### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATL1) # 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}}" "ATL1" "atlastin GTPase 1" "14" "q21.3" "unknown" "NG_009028.1" "UD_132118540895" "" "http://www.LOVD.nl/ATL1" "" "1" "11231" "51062" "606439" "1" "1" "1" "1" "This database is one of the gene variant databases from the:\r\n
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB.\r\nWe gratefully acknowledge the role of Christian Beetz in curating this database (2016-2018)." "" "g" "http://databases.lovd.nl/shared/refseq/ATL1_codingDNA.html" "1" "" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)" "-1" "" "-1" "00001" "2012-05-23 00:00:00" "00006" "2021-05-20 18:31:02" "00006" "2025-11-13 13:04:16" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00023895" "ATL1" "transcript variant 1" "002" "NM_015915.4" "" "NP_056999.2" "" "" "" "-241" "2406" "1677" "51026743" "51099786" "00006" "2013-12-20 10:27:51" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00289" "SPG3A" "paraplegia, spastic, autosomal dominant, type 3A (SPG-3A)" "AD" "182600" "" "autosomal dominant" "" "00006" "2013-12-20 10:18:57" "00006" "2021-12-10 21:51:32" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "00360" "MDC" "dystrophy, muscular, congenital (MDC)" "" "" "" "" "" "00006" "2014-03-21 23:02:36" "00006" "2018-07-03 16:30:02" "03400" "HSN1D" "neuropathy, sensory, hereditary, type ID (HSN-1D)" "AD" "613708" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ATL1" "00289" "ATL1" "03400" ## Individuals ## Do not remove or alter this header ## ## Count = 711 "{{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}}" "00004105" "" "" "" "6" "" "00559" "{PMID:Khan 2014:24473461}" "4 generation consanguineous family with 6 affected individuals, unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00046993" "" "" "" "1" "" "01330" "" "" "" "" "" "" "0" "" "" "" "" "00057796" "" "" "" "21" "" "00006" "{PMID:Varga 2013:23483706}" "5-generation family, 21 affecteds, numerous affected male carriers and several unaffected female carriers (and potentially a few male carriers)" "F" "?" "United States" "" "0" "" "" "" "" "00057801" "" "" "" "2" "" "00006" "{PMID:Rainier 2006:16533974}" "2-generation family, affected mother/son" "F;M" "no" "" "" "0" "" "" "" "" "00057808" "" "" "" "11" "" "00006" "{PMID:Muglia 2002:12112092}" "4-generation family, 11 affecteds" "F;M" "no" "Italy" "" "0" "" "" "" "" "00057833" "" "" "" "4" "" "00006" "{PMID:Varga 2013:23483706}" "4-generation family; 4 homozygous affecteds, third affected sibbling is heterozygous, at least five more family members are heterozygous but unaffected" "F" "" "Morocco" "" "0" "" "" "" "" "00059239" "" "" "" "2" "" "01552" "" "family, 2 affecteds" "M" "yes" "(France);Sudan" "" "0" "yes" "" "" "" "00094255" "" "" "" "1" "" "01500" "{PMID:de Bot 2013:23108492}" "3-generation family, 3 affecteds" "F" "" "Netherlands" "" "0" "" "" "" "" "00094256" "" "" "" "1" "" "01500" "{PMID:de Bot 2013:23108492}" "3-generation family, 3 affecteds" "F" "" "Netherlands" "" "0" "" "" "" "" "00094257" "" "" "" "1" "" "01500" "{PMID:de Bot 2013:23108492}" "3-generation family, 3 affecteds" "M" "" "Netherlands" "" "0" "" "" "" "" "00094258" "" "" "" "1" "" "01500" "{PMID:de Bot 2013:23108492}" "3-generation family, 2 affecteds, 1st generation not tested" "M" "" "Netherlands" "" "0" "" "" "" "" "00094259" "" "" "" "1" "" "01500" "{PMID:de Bot 2013:23108492}" "3-generation family, 2 affecteds, 1st generation not tested" "M" "" "Netherlands" "" "0" "" "" "" "" "00094260" "" "" "" "1" "" "01500" "{PMID:de Bot 2013:23108492}" "3-generation family, 6 affecteds" "F" "" "Netherlands" "" "0" "" "" "" "" "00094261" "" "" "" "1" "" "01500" "{PMID:de Bot 2013:23108492}" "3-generation family, 6 affecteds" "F" "" "Netherlands" "" "0" "" "" "" "" "00094262" "" "" "" "1" "" "01500" "{PMID:de Bot 2013:23108492}" "3-generation family, 6 affecteds" "M" "" "Netherlands" "" "0" "" "" "" "" "00094263" "" "" "" "1" "" "01500" "{PMID:de Bot 2013:23108492}" "3-generation family, 6 affecteds" "M" "" "Netherlands" "" "0" "" "" "" "" "00094264" "" "" "" "1" "" "01500" "{PMID:de Bot 2013:23108492}" "3-generation family, 6 affecteds" "M" "" "Netherlands" "" "0" "" "" "" "" "00094265" "" "" "" "1" "" "01500" "{PMID:de Bot 2013:23108492}" "3-generation family, 6 affecteds" "F" "" "Netherlands" "" "0" "" "" "" "" "00094266" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "3 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094267" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "3 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094268" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "3 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094269" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "2 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094270" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "2 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094271" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "2 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094272" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "2 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094273" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "4 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094274" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "4 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094275" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "4 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094276" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "4 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094277" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "2 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094278" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "2 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094279" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "3 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094280" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "3 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094281" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "3 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094282" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "3 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094283" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "3 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094284" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "3 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094285" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "3 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094286" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "3 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094287" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "3 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094288" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "4 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094289" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "4 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094290" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "4 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094291" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "4 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094292" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "8 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094293" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "8 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094294" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "8 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094295" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "8 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094296" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "8 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094297" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "8 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094298" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "8 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094299" "" "" "" "1" "" "01500" "{PMID:Elert-Dobkowska 2015:26671083}" "8 affecteds" "?" "" "Poland" "" "0" "" "" "" "" "00094300" "" "" "" "1" "" "01500" "{PMID:Loureiro 2013:23400676}" "family 1 out of 89" "?" "" "Portugal" "" "0" "" "" "" "" "00094301" "" "" "" "1" "" "01500" "{PMID:Loureiro 2013:23400676}" "family 2 out of 89" "?" "" "Portugal" "" "0" "" "" "" "" "00094302" "" "" "" "1" "" "01500" "{PMID:Loureiro 2013:23400676}" "family 3 out of 89" "?" "" "Portugal" "" "0" "" "" "" "" "00094303" "" "" "" "1" "" "01500" "{PMID:Loureiro 2013:23400676}" "family 4 out of 89" "?" "" "Portugal" "" "0" "" "" "" "" "00094304" "" "" "" "1" "" "01500" "{PMID:Ishiura 2014:24451228}" "variant 1 in exon 12" "?" "" "Japan" "" "0" "" "" "" "" "00094305" "" "" "" "1" "" "01500" "{PMID:Ishiura 2014:24451228}" "variant 2 in exon 12" "?" "" "Japan" "" "0" "" "" "" "" "00094306" "" "" "" "1" "" "01500" "{PMID:Guelly 2011:21194679}" "4-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094307" "" "" "" "1" "" "01500" "{PMID:Guelly 2011:21194679}" "4-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094308" "" "" "" "1" "" "01500" "{PMID:Guelly 2011:21194679}" "4-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094309" "" "" "" "1" "" "01500" "{PMID:Guelly 2011:21194679}" "4-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094310" "" "" "" "1" "" "01500" "{PMID:Guelly 2011:21194679}" "4-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094311" "" "" "" "1" "" "01500" "{PMID:Guelly 2011:21194679}" "4-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094312" "" "" "" "1" "" "01500" "{PMID:Guelly 2011:21194679}" "4-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094313" "" "" "" "1" "" "01500" "{PMID:Guelly 2011:21194679}" "4-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094314" "" "" "" "1" "" "01500" "{PMID:Guelly 2011:21194679}" "4-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094315" "" "" "" "1" "" "01500" "{PMID:Guelly 2011:21194679}" "4-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094316" "" "" "" "1" "" "01500" "{PMID:Guelly 2011:21194679}" "4-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094317" "" "" "" "1" "" "01500" "{PMID:Guelly 2011:21194679}" "4-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094318" "" "" "" "1" "" "01500" "{PMID:Guelly 2011:21194679}" "HSN Patient B with father" "M" "" "" "" "0" "" "" "" "" "00094319" "" "" "" "1" "" "01500" "{PMID:Guelly 2011:21194679}" "HSN Patient B with father" "?" "" "" "" "0" "" "" "" "" "00094320" "" "" "" "1" "" "01500" "{PMID:Guelly 2011:21194679}" "HSN Patient A with deceased mother" "F" "" "" "" "0" "" "" "" "" "00094321" "" "" "" "1" "" "01500" "{PMID:Guelly 2011:21194679}" "HSN Patient A with deceased mother" "?" "" "" "" "0" "" "" "" "" "00094322" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "22 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094323" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "22 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094324" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "22 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094325" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "22 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094326" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "22 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094327" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "22 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094328" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "22 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094329" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "22 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094330" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "22 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094331" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "22 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094332" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "22 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094333" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "22 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094334" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "22 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094335" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "22 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094336" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "22 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094337" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "22 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094338" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "22 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094339" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "22 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094340" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "22 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094341" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "22 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094342" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "22 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094343" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "22 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094344" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "6 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094345" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "6 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094346" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "6 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094347" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "6 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094348" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "6 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094349" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "6 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094350" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094351" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094352" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094353" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094354" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094355" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094356" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094357" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094358" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094359" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094360" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in 1 family" "?" "" "" "" "0" "" "" "" "" "00094361" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "4 patients in one family" "?" "" "" "" "0" "" "" "" "" "00094362" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "4 patients in one family" "?" "" "" "" "0" "" "" "" "" "00094363" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "4 patients in one family" "?" "" "" "" "0" "" "" "" "" "00094364" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "4 patients in one family" "?" "" "" "" "0" "" "" "" "" "00094365" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "3 patients in family" "?" "" "" "" "0" "" "" "" "" "00094366" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "3 patients in family" "?" "" "" "" "0" "" "" "" "" "00094367" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "3 patients in family" "?" "" "" "" "0" "" "" "" "" "00094368" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in family" "?" "" "" "" "0" "" "" "" "" "00094369" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in family" "?" "" "" "" "0" "" "" "" "" "00094370" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in family" "?" "" "" "" "0" "" "" "" "" "00094371" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in family" "?" "" "" "" "0" "" "" "" "" "00094372" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in family" "?" "" "" "" "0" "" "" "" "" "00094373" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in family" "?" "" "" "" "0" "" "" "" "" "00094374" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in family" "?" "" "" "" "0" "" "" "" "" "00094375" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in family" "?" "" "" "" "0" "" "" "" "" "00094376" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in family" "?" "" "" "" "0" "" "" "" "" "00094377" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in family" "?" "" "" "" "0" "" "" "" "" "00094378" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in family" "?" "" "" "" "0" "" "" "" "" "00094379" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "2 patients in family" "?" "" "" "" "0" "" "" "" "" "00094380" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "2 patients in family" "?" "" "" "" "0" "" "" "" "" "00094381" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "new variant 1" "?" "" "" "" "0" "" "" "" "" "00094382" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "new variant 2" "?" "" "" "" "0" "" "" "" "" "00094383" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "1 patient" "?" "" "" "" "0" "" "" "" "" "00094384" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in family" "?" "" "" "" "0" "" "" "" "" "00094385" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in family" "?" "" "" "" "0" "" "" "" "" "00094386" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in family" "?" "" "" "" "0" "" "" "" "" "00094387" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in family" "?" "" "" "" "0" "" "" "" "" "00094388" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in family" "?" "" "" "" "0" "" "" "" "" "00094389" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in family" "?" "" "" "" "0" "" "" "" "" "00094390" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in family" "?" "" "" "" "0" "" "" "" "" "00094391" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in family" "?" "" "" "" "0" "" "" "" "" "00094392" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in family" "?" "" "" "" "0" "" "" "" "" "00094393" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in family" "?" "" "" "" "0" "" "" "" "" "00094394" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "11 patients in family" "?" "" "" "" "0" "" "" "" "" "00094395" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "9 patients in family" "?" "" "" "" "0" "" "" "" "" "00094396" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "9 patients in family" "?" "" "" "" "0" "" "" "" "" "00094397" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "9 patients in family" "?" "" "" "" "0" "" "" "" "" "00094398" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "9 patients in family" "?" "" "" "" "0" "" "" "" "" "00094399" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "9 patients in family" "?" "" "" "" "0" "" "" "" "" "00094400" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "9 patients in family" "?" "" "" "" "0" "" "" "" "" "00094401" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "9 patients in family" "?" "" "" "" "0" "" "" "" "" "00094402" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "9 patients in family" "?" "" "" "" "0" "" "" "" "" "00094403" "" "" "" "1" "" "01500" "{PMID:Abel 2004:15517445}" "9 patients in family" "?" "" "" "" "0" "" "" "" "" "00094404" "" "" "" "1" "" "01500" "{PMID:Dufke 2012:22552817}" "Patient 20" "?" "" "Germany" "" "0" "" "" "" "" "00094405" "" "" "" "1" "" "01500" "{PMID:Dufke 2012:22552817}" "Patient 46" "?" "" "Germany" "" "0" "" "" "" "" "00094406" "" "" "" "1" "" "01500" "{PMID:Dufke 2012:22552817}" "Patient 46" "?" "" "Germany" "" "0" "" "" "" "" "00094407" "" "" "" "1" "" "01500" "{PMID:Dufke 2012:22552817}" "8 patients" "?" "" "Germany" "" "0" "" "" "" "" "00094408" "" "" "" "1" "" "01500" "{PMID:Dufke 2012:22552817}" "8 patients" "?" "" "Germany" "" "0" "" "" "" "" "00094409" "" "" "" "1" "" "01500" "{PMID:Dufke 2012:22552817}" "8 patients" "?" "" "Germany" "" "0" "" "" "" "" "00094410" "" "" "" "1" "" "01500" "{PMID:Dufke 2012:22552817}" "8 patients" "?" "" "Germany" "" "0" "" "" "" "" "00094411" "" "" "" "1" "" "01500" "{PMID:Dufke 2012:22552817}" "8 patients" "?" "" "Germany" "" "0" "" "" "" "" "00094412" "" "" "" "1" "" "01500" "{PMID:Dufke 2012:22552817}" "8 patients" "?" "" "Germany" "" "0" "" "" "" "" "00094413" "" "" "" "1" "" "01500" "{PMID:Dufke 2012:22552817}" "8 patients" "?" "" "Germany" "" "0" "" "" "" "" "00094414" "" "" "" "1" "" "01500" "{PMID:Dufke 2012:22552817}" "8 patients" "?" "" "Germany" "" "0" "" "" "" "" "00094415" "" "" "" "1" "" "01500" "{PMID:Dufke 2012:22552817}" "2 patients with mutation" "?" "" "Germany" "" "0" "" "" "" "" "00094416" "" "" "" "1" "" "01500" "{PMID:Dufke 2012:22552817}" "2 patients with mutation" "?" "" "Germany" "" "0" "" "" "" "" "00094417" "" "" "" "1" "" "01500" "{PMID:Dufke 2012:22552817}" "2 patients with mutation" "?" "" "Germany" "" "0" "" "" "" "" "00094418" "" "" "" "1" "" "01500" "{PMID:Dufke 2012:22552817}" "2 patients with mutation" "?" "" "Germany" "" "0" "" "" "" "" "00094419" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "Case 97" "?" "" "Spain" "" "0" "" "" "" "" "00094420" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "Case 102" "?" "" "Spain" "" "0" "" "" "" "" "00094421" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "Case 220" "?" "" "Spain" "" "0" "" "" "" "" "00094422" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "Case 279" "?" "" "Spain" "" "0" "" "" "" "" "00094423" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "Case 233" "?" "" "Spain" "" "0" "" "" "" "" "00094424" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "Case 159" "?" "" "Spain" "" "0" "" "" "" "" "00094425" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "3-generation family, 2 affecteds, 1st generation not affected" "M" "" "Spain" "" "0" "" "" "" "" "00094426" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "3-generation family, 2 affecteds, 1st generation not affected" "M" "" "Spain" "" "0" "" "" "" "" "00094427" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "4-generation family, 13 affecteds" "M" "" "Spain" "" "0" "" "" "" "" "00094428" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "4-generation family, 13 affecteds" "F" "" "Spain" "" "0" "" "" "" "" "00094429" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "4-generation family, 13 affecteds" "F" "" "Spain" "" "0" "" "" "" "" "00094430" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "4-generation family, 13 affecteds" "F" "" "Spain" "" "0" "" "" "" "" "00094431" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "4-generation family, 13 affecteds" "F" "" "Spain" "" "0" "" "" "" "" "00094432" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "4-generation family, 13 affecteds" "F" "" "Spain" "" "0" "" "" "" "" "00094433" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "4-generation family, 13 affecteds" "F" "" "Spain" "" "0" "" "" "" "" "00094434" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "4-generation family, 13 affecteds" "M" "" "Spain" "" "0" "" "" "" "" "00094435" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "4-generation family, 13 affecteds" "F" "" "Spain" "" "0" "" "" "" "" "00094436" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "4-generation family, 13 affecteds" "F" "" "Spain" "" "0" "" "" "" "" "00094437" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "4-generation family, 13 affecteds" "F" "" "Spain" "" "0" "" "" "" "" "00094438" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "4-generation family, 13 affecteds" "M" "" "Spain" "" "0" "" "" "" "" "00094439" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "4-generation family, 13 affecteds" "F" "" "Spain" "" "0" "" "" "" "" "00094440" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "2-generation family, 2 affecteds" "F" "" "Spain" "" "0" "" "" "" "" "00094441" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "2-generation family, 2 affecteds" "F" "" "Spain" "" "0" "" "" "" "" "00094442" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "Case 64" "?" "" "Spain" "" "0" "" "" "" "" "00094443" "" "" "" "1" "" "01500" "{PMID:Álvarez 2010:20932283}" "Case 110" "?" "" "Spain" "" "0" "" "" "" "" "00094444" "" "" "" "1" "" "01500" "{PMID:Hedera 2004:15477516}" "4-generation family, 6 affecteds" "M" "" "" "" "0" "" "" "" "" "00094445" "" "" "" "1" "" "01500" "{PMID:Hedera 2004:15477516}" "4-generation family, 6 affecteds" "M" "" "" "" "0" "" "" "" "" "00094446" "" "" "" "1" "" "01500" "{PMID:Hedera 2004:15477516}" "4-generation family, 6 affecteds" "M" "" "" "" "0" "" "" "" "" "00094447" "" "" "" "1" "" "01500" "{PMID:Hedera 2004:15477516}" "4-generation family, 6 affecteds" "M" "" "" "" "0" "" "" "" "" "00094448" "" "" "" "1" "" "01500" "{PMID:Hedera 2004:15477516}" "4-generation family, 6 affecteds" "F" "" "" "" "0" "" "" "" "" "00094449" "" "" "" "1" "" "01500" "{PMID:Hedera 2004:15477516}" "4-generation family, 6 affecteds" "F" "" "" "" "0" "" "" "" "" "00094450" "" "" "" "1" "" "01500" "{PMID:Rainier 2006:16533974}" "3-generation family, 2 affecteds" "F" "" "" "" "0" "" "" "" "" "00094451" "" "" "" "1" "" "01500" "{PMID:Rainier 2006:16533974}" "3-generation family, 2 affecteds" "M" "" "" "" "0" "" "" "" "" "00094452" "" "" "" "1" "" "01500" "{PMID:Sauter 2004:14695538}" "patient with father and grandfather" "M" "" "" "" "0" "" "" "" "" "00094453" "" "" "" "1" "" "01500" "{PMID:Sauter 2004:14695538}" "patient with father and grandfather" "M" "" "" "" "0" "" "" "" "" "00094454" "" "" "" "1" "" "01500" "{PMID:Sauter 2004:14695538}" "patient with father and grandfather" "M" "" "" "" "0" "" "" "" "" "00094455" "" "" "" "1" "" "01500" "{PMID:Sauter 2004:14695538}" "patient with son" "M" "" "" "" "0" "" "" "" "" "00094456" "" "" "" "1" "" "01500" "{PMID:Sauter 2004:14695538}" "patient with son" "M" "" "" "" "0" "" "" "" "" "00094457" "" "" "" "1" "" "01500" "{PMID:Sauter 2004:14695538}" "3-generation family, 4 affecteds" "F" "" "" "" "0" "" "" "" "" "00094458" "" "" "" "1" "" "01500" "{PMID:Sauter 2004:14695538}" "3-generation family, 4 affecteds" "F" "" "" "" "0" "" "" "" "" "00094459" "" "" "" "1" "" "01500" "{PMID:Sauter 2004:14695538}" "3-generation family, 4 affecteds" "F" "" "" "" "0" "" "" "" "" "00094460" "" "" "" "1" "" "01500" "{PMID:Sauter 2004:14695538}" "3-generation family, 4 affecteds" "M" "" "" "" "0" "" "" "" "" "00094461" "" "" "" "1" "" "01500" "{PMID:Sauter 2004:14695538}" "patient with brother and father" "M" "" "" "" "0" "" "" "" "" "00094462" "" "" "" "1" "" "01500" "{PMID:Sauter 2004:14695538}" "patient with brother and father" "F" "" "" "" "0" "" "" "" "" "00094463" "" "" "" "1" "" "01500" "{PMID:Sauter 2004:14695538}" "patient with brother and father" "M" "" "" "" "0" "" "" "" "" "00094464" "" "" "" "1" "" "01500" "{PMID:Sauter 2004:14695538}" "new variant 1" "?" "" "" "" "0" "" "" "" "" "00094465" "" "" "" "1" "" "01500" "{PMID:Sauter 2004:14695538}" "3-generation family, 2 affecteds" "F" "" "" "" "0" "" "" "" "" "00094466" "" "" "" "1" "" "01500" "{PMID:Sauter 2004:14695538}" "3-generation family, 2 affecteds" "F" "" "" "" "0" "" "" "" "" "00094467" "" "" "" "1" "" "01500" "{PMID:Smith 2009:19459885}" "Patient Number 2" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00094468" "" "" "" "1" "" "01500" "{PMID:Smith 2009:19459885}" "Patient Number 6" "?" "" "Poland" "" "0" "" "" "" "" "00094469" "" "" "" "1" "" "01500" "{PMID:Smith 2009:19459885}" "Patient Number 6" "?" "" "Poland" "" "0" "" "" "" "" "00094470" "" "" "" "1" "" "01500" "{PMID:Smith 2009:19459885}" "Patient Number 6" "?" "" "Poland" "" "0" "" "" "" "" "00094471" "" "" "" "1" "" "01500" "{PMID:Smith 2009:19459885}" "Patient Number 1" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00094472" "" "" "" "1" "" "01500" "{PMID:Smith 2009:19459885}" "Patient Number 1" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00094473" "" "" "" "1" "" "01500" "{PMID:Smith 2009:19459885}" "Patient Number 3" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00094474" "" "" "" "1" "" "01500" "{PMID:Smith 2009:19459885}" "Patient Number 3" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00094475" "" "" "" "1" "" "01500" "{PMID:Smith 2009:19459885}" "Patient Number 4" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00094476" "" "" "" "1" "" "01500" "{PMID:Smith 2009:19459885}" "Patient Number 4" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00094477" "" "" "" "1" "" "01500" "{PMID:Smith 2009:19459885}" "Patient Number 5" "F" "" "Italy" "" "0" "" "" "" "" "00094478" "" "" "" "1" "" "01500" "{PMID:Smith 2009:19459885}" "Patient Number 5" "?" "" "Italy" "" "0" "" "" "" "" "00094479" "" "" "" "1" "" "01500" "{PMID:Smith 2009:19459885}" "Patient Number 5" "?" "" "Italy" "" "0" "" "" "" "" "00094480" "" "" "" "1" "" "01500" "{PMID:Smith 2009:19459885}" "Patient Number 5" "?" "" "Italy" "" "0" "" "" "" "" "00094481" "" "" "" "1" "" "01500" "{PMID:Smith 2009:19459885}" "Patient Number 5" "?" "" "Italy" "" "0" "" "" "" "" "00094482" "" "" "" "1" "" "01500" "{PMID:Smith 2009:19459885}" "Patient Number 5" "?" "" "Italy" "" "0" "" "" "" "" "00094483" "" "" "" "1" "" "01500" "{PMID:Smith 2009:19459885}" "Patient Number 5" "?" "" "Italy" "" "0" "" "" "" "" "00094484" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 5 affecteds" "?" "" "Belgium" "" "0" "" "" "" "" "00094485" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 5 affecteds" "?" "" "Belgium" "" "0" "" "" "" "" "00094486" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 5 affecteds" "?" "" "Belgium" "" "0" "" "" "" "" "00094487" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 5 affecteds" "?" "" "Belgium" "" "0" "" "" "" "" "00094488" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 5 affecteds" "?" "" "Belgium" "" "0" "" "" "" "" "00094489" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 8 affecteds" "?" "" "Austria" "" "0" "" "" "" "" "00094490" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 8 affecteds" "?" "" "Austria" "" "0" "" "" "" "" "00094491" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 8 affecteds" "?" "" "Austria" "" "0" "" "" "" "" "00094492" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 8 affecteds" "?" "" "Austria" "" "0" "" "" "" "" "00094493" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 8 affecteds" "?" "" "Austria" "" "0" "" "" "" "" "00094494" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 8 affecteds" "?" "" "Austria" "" "0" "" "" "" "" "00094495" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 8 affecteds" "?" "" "Austria" "" "0" "" "" "" "" "00094496" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 8 affecteds" "?" "" "Austria" "" "0" "" "" "" "" "00094497" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "2-generation family, 2 affecteds" "?" "" "Sweden" "" "0" "" "" "" "" "00094498" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "2-generation family, 2 affecteds" "?" "" "Sweden" "" "0" "" "" "" "" "00094499" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "2-generation family, 2 affecteds" "?" "" "Germany" "" "0" "" "" "" "" "00094500" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "2-generation family, 2 affecteds" "?" "" "Germany" "" "0" "" "" "" "" "00094501" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "3-generation family, 3 affecteds" "?" "" "Belgium" "" "0" "" "" "" "" "00094502" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "3-generation family, 3 affecteds" "?" "" "Belgium" "" "0" "" "" "" "" "00094503" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "3-generation family, 3 affecteds" "?" "" "Belgium" "" "0" "" "" "" "" "00094504" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "3-generation family, 2 affecteds" "?" "" "Belgium" "" "0" "" "" "" "" "00094505" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "3-generation family, 2 affecteds" "?" "" "Belgium" "" "0" "" "" "" "" "00094506" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "3-generation family, 4 affecteds" "?" "" "Australia" "" "0" "" "" "" "" "00094507" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "3-generation family, 4 affecteds" "?" "" "Australia" "" "0" "" "" "" "" "00094508" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "3-generation family, 4 affecteds" "?" "" "Australia" "" "0" "" "" "" "" "00094509" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "3-generation family, 4 affecteds" "?" "" "Australia" "" "0" "" "" "" "" "00094510" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 7 affecteds" "?" "" "Bulgaria" "" "0" "" "" "" "" "00094511" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 7 affecteds" "?" "" "Bulgaria" "" "0" "" "" "" "" "00094512" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 7 affecteds" "?" "" "Bulgaria" "" "0" "" "" "" "" "00094513" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 7 affecteds" "?" "" "Bulgaria" "" "0" "" "" "" "" "00094514" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 7 affecteds" "?" "" "Bulgaria" "" "0" "" "" "" "" "00094515" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 7 affecteds" "?" "" "Bulgaria" "" "0" "" "" "" "" "00094516" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 7 affecteds" "?" "" "Bulgaria" "" "0" "" "" "" "" "00094517" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "2-generation family, 1 affected" "?" "" "Czech Republic" "" "0" "" "" "" "" "00094518" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "3-generation family, 4 affecteds" "?" "" "Austria" "" "0" "" "" "" "" "00094519" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "3-generation family, 4 affecteds" "?" "" "Austria" "" "0" "" "" "" "" "00094520" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "3-generation family, 4 affecteds" "?" "" "Austria" "" "0" "" "" "" "" "00094521" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "3-generation family, 4 affecteds" "?" "" "Austria" "" "0" "" "" "" "" "00094522" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 5 affecteds" "?" "" "Bulgaria" "" "0" "" "" "" "" "00094523" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 5 affecteds" "?" "" "Bulgaria" "" "0" "" "" "" "" "00094524" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 5 affecteds" "?" "" "Bulgaria" "" "0" "" "" "" "" "00094525" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 5 affecteds" "?" "" "Bulgaria" "" "0" "" "" "" "" "00094526" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "4-generation family, 5 affecteds" "?" "" "Bulgaria" "" "0" "" "" "" "" "00094527" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "3-generation family, 3 affecteds" "?" "" "Norway" "" "0" "" "" "" "" "00094528" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "3-generation family, 3 affecteds" "?" "" "Norway" "" "0" "" "" "" "" "00094529" "" "" "" "1" "" "01500" "{PMID:Ivanova 2007:17502470}" "3-generation family, 3 affecteds" "?" "" "Norway" "" "0" "" "" "" "" "00094530" "" "" "" "1" "" "01500" "{PMID:McCorquodale 2011:20718791}" "new variant in exon 6" "?" "" "" "" "0" "" "" "" "" "00094531" "" "" "" "1" "" "01500" "{PMID:McCorquodale 2011:20718791}" "new variant in exon 7" "?" "" "" "" "0" "" "" "" "" "00094532" "" "" "" "1" "" "01500" "{PMID:McCorquodale 2011:20718791}" "new variant in exon 7" "?" "" "" "" "0" "" "" "" "" "00094533" "" "" "" "1" "" "01500" "{PMID:McCorquodale 2011:20718791}" "new variant in exon 8" "?" "" "" "" "0" "" "" "" "" "00094534" "" "" "" "1" "" "01500" "{PMID:McCorquodale 2011:20718791}" "new variant in exon 12" "?" "" "" "" "0" "" "" "" "" "00094535" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094536" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094537" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094538" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094539" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094540" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094541" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094542" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094543" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094544" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094545" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094546" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094547" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094548" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094549" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094550" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094551" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094552" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094553" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094554" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094555" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094556" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094557" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094558" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 12 affecteds" "?" "" "" "" "0" "" "" "" "" "00094559" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "3-generation family, 3 affecteds" "?" "" "" "" "0" "" "" "" "" "00094560" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "3-generation family, 3 affecteds" "?" "" "" "" "0" "" "" "" "" "00094561" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "3-generation family, 3 affecteds" "?" "" "" "" "0" "" "" "" "" "00094562" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094563" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094564" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094565" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094566" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094567" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094568" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094569" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094570" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094571" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094572" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094573" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094574" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094575" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094576" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094577" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094578" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094579" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094580" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094581" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094582" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094583" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094584" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094585" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094586" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094587" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094588" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094589" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094590" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "6-generation family, 29 affecteds" "?" "" "" "" "0" "" "" "" "" "00094591" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 18 affecteds" "?" "" "" "" "0" "" "" "" "" "00094592" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 18 affecteds" "?" "" "" "" "0" "" "" "" "" "00094593" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 18 affecteds" "?" "" "" "" "0" "" "" "" "" "00094594" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 18 affecteds" "?" "" "" "" "0" "" "" "" "" "00094595" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 18 affecteds" "?" "" "" "" "0" "" "" "" "" "00094596" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 18 affecteds" "?" "" "" "" "0" "" "" "" "" "00094597" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 18 affecteds" "?" "" "" "" "0" "" "" "" "" "00094598" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 18 affecteds" "?" "" "" "" "0" "" "" "" "" "00094599" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 18 affecteds" "?" "" "" "" "0" "" "" "" "" "00094600" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 18 affecteds" "?" "" "" "" "0" "" "" "" "" "00094601" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 18 affecteds" "?" "" "" "" "0" "" "" "" "" "00094602" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 18 affecteds" "?" "" "" "" "0" "" "" "" "" "00094603" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 18 affecteds" "?" "" "" "" "0" "" "" "" "" "00094604" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 18 affecteds" "?" "" "" "" "0" "" "" "" "" "00094605" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 18 affecteds" "?" "" "" "" "0" "" "" "" "" "00094606" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 18 affecteds" "?" "" "" "" "0" "" "" "" "" "00094607" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 18 affecteds" "?" "" "" "" "0" "" "" "" "" "00094608" "" "" "" "1" "" "01500" "{PMID:Zhao 2001:11685207}" "5-generation family, 18 affecteds" "?" "" "" "" "0" "" "" "" "" "00094609" "" "" "" "1" "" "01500" "{PMID:Kwon 2010:20947813}" "3-generation family, 6 affecteds" "F" "" "Korea" "" "0" "" "" "" "" "00094610" "" "" "" "1" "" "01500" "{PMID:Kwon 2010:20947813}" "3-generation family, 6 affecteds" "F" "" "Korea" "" "0" "" "" "" "" "00094611" "" "" "" "1" "" "01500" "{PMID:Kwon 2010:20947813}" "3-generation family, 6 affecteds" "F" "" "Korea" "" "0" "" "" "" "" "00094612" "" "" "" "1" "" "01500" "{PMID:Kwon 2010:20947813}" "3-generation family, 6 affecteds" "M" "" "Korea" "" "0" "" "" "" "" "00094613" "" "" "" "1" "" "01500" "{PMID:Kwon 2010:20947813}" "3-generation family, 6 affecteds" "F" "" "Korea" "" "0" "" "" "" "" "00094614" "" "" "" "1" "" "01500" "{PMID:Kwon 2010:20947813}" "3-generation family, 6 affecteds" "F" "" "Korea" "" "0" "" "" "" "" "00094615" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "3 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094616" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "3 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094617" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "3 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094618" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "1 new patient" "?" "" "France" "" "0" "" "" "" "" "00094619" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "5 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094620" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "5 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094621" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "5 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094622" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "5 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094623" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "5 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094624" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "2 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094625" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "2 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094626" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "4 patients in one family" "?" "" "France" "" "0" "" "" "" "" "00094627" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "4 patients in one family" "?" "" "France" "" "0" "" "" "" "" "00094628" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "4 patients in one family" "?" "" "France" "" "0" "" "" "" "" "00094629" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "4 patients in one family" "?" "" "France" "" "0" "" "" "" "" "00094630" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "2 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094631" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "2 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094632" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "3 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094633" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "3 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094634" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "3 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094635" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "1 new patient" "?" "" "France" "" "0" "" "" "" "" "00094636" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "4-generation family, 5 affecteds" "?" "" "France" "" "0" "" "" "" "" "00094637" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "4-generation family, 5 affecteds" "?" "" "France" "" "0" "" "" "" "" "00094638" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "4-generation family, 5 affecteds" "?" "" "France" "" "0" "" "" "" "" "00094639" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "4-generation family, 5 affecteds" "?" "" "France" "" "0" "" "" "" "" "00094640" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "4-generation family, 5 affecteds" "?" "" "France" "" "0" "" "" "" "" "00094641" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "3 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094642" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "3 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094643" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "3 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094644" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "5 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094645" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "5 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094646" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "5 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094647" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "5 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094648" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "5 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094649" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "2 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094650" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "2 patients in family" "?" "" "France" "" "0" "" "" "" "" "00094651" "" "" "" "1" "" "01500" "{PMID:Dürr 2004:15596607}" "1 new patient" "?" "" "France" "" "0" "" "" "" "" "00094652" "" "" "" "1" "" "01500" "{PMID:Klein 2014:24604904}" "4-generation family, 13 affecteds" "F" "" "" "" "0" "" "" "" "" "00094653" "" "" "" "1" "" "01500" "{PMID:Klein 2014:24604904}" "4-generation family, 13 affecteds" "M" "" "" "" "0" "" "" "" "" "00094654" "" "" "" "1" "" "01500" "{PMID:Klein 2014:24604904}" "4-generation family, 13 affecteds" "M" "" "" "" "0" "" "" "" "" "00094655" "" "" "" "1" "" "01500" "{PMID:Klein 2014:24604904}" "4-generation family, 13 affecteds" "M" "" "" "" "0" "" "" "" "" "00094656" "" "" "" "1" "" "01500" "{PMID:Klein 2014:24604904}" "4-generation family, 13 affecteds" "F" "" "" "" "0" "" "" "" "" "00094657" "" "" "" "1" "" "01500" "{PMID:Klein 2014:24604904}" "4-generation family, 13 affecteds" "F" "" "" "" "0" "" "" "" "" "00094658" "" "" "" "1" "" "01500" "{PMID:Klein 2014:24604904}" "4-generation family, 13 affecteds" "M" "" "" "" "0" "" "" "" "" "00094659" "" "" "" "1" "" "01500" "{PMID:Klein 2014:24604904}" "4-generation family, 13 affecteds" "F" "" "" "" "0" "" "" "" "" "00094660" "" "" "" "1" "" "01500" "{PMID:Klein 2014:24604904}" "4-generation family, 13 affecteds" "F" "" "" "" "0" "" "" "" "" "00094661" "" "" "" "1" "" "01500" "{PMID:Klein 2014:24604904}" "4-generation family, 13 affecteds" "M" "" "" "" "0" "" "" "" "" "00094662" "" "" "" "1" "" "01500" "{PMID:Klein 2014:24604904}" "4-generation family, 13 affecteds" "F" "" "" "" "0" "" "" "" "" "00094663" "" "" "" "1" "" "01500" "{PMID:Klein 2014:24604904}" "4-generation family, 13 affecteds" "M" "" "" "" "0" "" "" "" "" "00094664" "" "" "" "1" "" "01500" "{PMID:Klein 2014:24604904}" "4-generation family, 13 affecteds" "F" "" "" "" "0" "" "" "" "" "00094665" "" "" "" "1" "" "01500" "{PMID:Fusco 2012:22378671}" "very early onset with complicated phenotype" "F" "" "" "" "0" "" "" "" "" "00094666" "" "" "" "1" "" "01500" "{PMID:Zhao 2015:26600529}" "5-generation family, 12 affecteds" "M" "" "" "" "0" "" "" "" "" "00094667" "" "" "" "1" "" "01500" "{PMID:Zhao 2015:26600529}" "5-generation family, 12 affecteds" "F" "" "" "" "0" "" "" "" "" "00094668" "" "" "" "1" "" "01500" "{PMID:Zhao 2015:26600529}" "5-generation family, 12 affecteds" "M" "" "" "" "0" "" "" "" "" "00094669" "" "" "" "1" "" "01500" "{PMID:Zhao 2015:26600529}" "5-generation family, 12 affecteds" "F" "" "" "" "0" "" "" "" "" "00094670" "" "" "" "1" "" "01500" "{PMID:Zhao 2015:26600529}" "5-generation family, 12 affecteds" "F" "" "" "" "0" "" "" "" "" "00094671" "" "" "" "1" "" "01500" "{PMID:Zhao 2015:26600529}" "5-generation family, 12 affecteds" "F" "" "" "" "0" "" "" "" "" "00094672" "" "" "" "1" "" "01500" "{PMID:Zhao 2015:26600529}" "5-generation family, 12 affecteds" "M" "" "" "" "0" "" "" "" "" "00094673" "" "" "" "1" "" "01500" "{PMID:Zhao 2015:26600529}" "5-generation family, 12 affecteds" "F" "" "" "" "0" "" "" "" "" "00094674" "" "" "" "1" "" "01500" "{PMID:Zhao 2015:26600529}" "5-generation family, 12 affecteds" "M" "" "" "" "0" "" "" "" "" "00094675" "" "" "" "1" "" "01500" "{PMID:Zhao 2015:26600529}" "5-generation family, 12 affecteds" "M" "" "" "" "0" "" "" "" "" "00094676" "" "" "" "1" "" "01500" "{PMID:Zhao 2015:26600529}" "5-generation family, 12 affecteds" "M" "" "" "" "0" "" "" "" "" "00094677" "" "" "" "1" "" "01500" "{PMID:Zhao 2015:26600529}" "5-generation family, 12 affecteds" "M" "" "" "" "0" "" "" "" "" "00094678" "" "" "" "1" "" "01500" "{PMID:Zhao 2015:26600529}" "4-generation family, 10 affecteds" "F" "" "" "" "0" "" "" "" "" "00094679" "" "" "" "1" "" "01500" "{PMID:Zhao 2015:26600529}" "4-generation family, 10 affecteds" "M" "" "" "" "0" "" "" "" "" "00094680" "" "" "" "1" "" "01500" "{PMID:Zhao 2015:26600529}" "4-generation family, 10 affecteds" "F" "" "" "" "0" "" "" "" "" "00094681" "" "" "" "1" "" "01500" "{PMID:Zhao 2015:26600529}" "4-generation family, 10 affecteds" "F" "" "" "" "0" "" "" "" "" "00094682" "" "" "" "1" "" "01500" "{PMID:Zhao 2015:26600529}" "4-generation family, 10 affecteds" "F" "" "" "" "0" "" "" "" "" "00094683" "" "" "" "1" "" "01500" "{PMID:Zhao 2015:26600529}" "4-generation family, 10 affecteds" "M" "" "" "" "0" "" "" "" "" "00094684" "" "" "" "1" "" "01500" "{PMID:Zhao 2015:26600529}" "4-generation family, 10 affecteds" "M" "" "" "" "0" "" "" "" "" "00094685" "" "" "" "1" "" "01500" "{PMID:Zhao 2015:26600529}" "4-generation family, 10 affecteds" "M" "" "" "" "0" "" "" "" "" "00094686" "" "" "" "1" "" "01500" "{PMID:Zhao 2015:26600529}" "4-generation family, 10 affecteds" "F" "" "" "" "0" "" "" "" "" "00094687" "" "" "" "1" "" "01500" "{PMID:Zhao 2015:26600529}" "4-generation family, 10 affecteds" "F" "" "" "" "0" "" "" "" "" "00094688" "" "" "" "1" "" "01500" "{PMID:Leonardi 2015:25637064}" "3-generation family, 2 affecteds, 1st generation not affected" "M" "" "" "" "0" "" "" "" "" "00094689" "" "" "" "1" "" "01500" "{PMID:Leonardi 2015:25637064}" "3-generation family, 2 affecteds, 1st generation not affected" "F" "" "" "" "0" "" "" "" "" "00094690" "" "" "" "1" "" "01500" "{PMID:Leonardi 2015:25637064}" "de novo variant in exon 12" "M" "" "" "" "0" "" "" "" "" "00094691" "" "" "" "1" "" "01500" "{PMID:Leonardi 2015:25637064}" "de novo variant in exon 10" "M" "" "" "" "0" "" "" "" "" "00094692" "" "" "" "1" "" "01500" "{PMID:Li 2007:17531128}" "3-generation family, 5 affecteds" "F" "" "" "" "0" "" "" "" "" "00094693" "" "" "" "1" "" "01500" "{PMID:Li 2007:17531128}" "3-generation family, 5 affecteds" "F" "" "" "" "0" "" "" "" "" "00094694" "" "" "" "1" "" "01500" "{PMID:Li 2007:17531128}" "3-generation family, 5 affecteds" "F" "" "" "" "0" "" "" "" "" "00094695" "" "" "" "1" "" "01500" "{PMID:Li 2007:17531128}" "3-generation family, 5 affecteds" "F" "" "" "" "0" "" "" "" "" "00094696" "" "" "" "1" "" "01500" "{PMID:Li 2007:17531128}" "3-generation family, 5 affecteds" "M" "" "" "" "0" "" "" "" "" "00094697" "" "" "" "1" "" "01500" "{PMID:Li 2007:17531128}" "3-generation family, 8 affecteds" "F" "" "" "" "0" "" "" "" "" "00094698" "" "" "" "1" "" "01500" "{PMID:Li 2007:17531128}" "3-generation family, 8 affecteds" "F" "" "" "" "0" "" "" "" "" "00094699" "" "" "" "1" "" "01500" "{PMID:Li 2007:17531128}" "3-generation family, 8 affecteds" "F" "" "" "" "0" "" "" "" "" "00094700" "" "" "" "1" "" "01500" "{PMID:Li 2007:17531128}" "3-generation family, 8 affecteds" "M" "" "" "" "0" "" "" "" "" "00094701" "" "" "" "1" "" "01500" "{PMID:Li 2007:17531128}" "3-generation family, 8 affecteds" "F" "" "" "" "0" "" "" "" "" "00094702" "" "" "" "1" "" "01500" "{PMID:Li 2007:17531128}" "3-generation family, 8 affecteds" "F" "" "" "" "0" "" "" "" "" "00094703" "" "" "" "1" "" "01500" "{PMID:Li 2007:17531128}" "3-generation family, 8 affecteds" "F" "" "" "" "0" "" "" "" "" "00094704" "" "" "" "1" "" "01500" "{PMID:Li 2007:17531128}" "3-generation family, 8 affecteds" "M" "" "" "" "0" "" "" "" "" "00094705" "" "" "" "1" "" "01500" "{PMID:Leonardis 2012:22340599}" "4-generation family, 14 affecteds" "M" "" "Slovenia" "" "0" "" "" "" "" "00094706" "" "" "" "1" "" "01500" "{PMID:Leonardis 2012:22340599}" "4-generation family, 14 affecteds" "M" "" "Slovenia" "" "0" "" "" "" "" "00094707" "" "" "" "1" "" "01500" "{PMID:Leonardis 2012:22340599}" "4-generation family, 14 affecteds" "M" "" "Slovenia" "" "0" "" "" "" "" "00094708" "" "" "" "1" "" "01500" "{PMID:Leonardis 2012:22340599}" "4-generation family, 14 affecteds" "M" "" "Slovenia" "" "0" "" "" "" "" "00094709" "" "" "" "1" "" "01500" "{PMID:Leonardis 2012:22340599}" "4-generation family, 14 affecteds" "M" "" "Slovenia" "" "0" "" "" "" "" "00094710" "" "" "" "1" "" "01500" "{PMID:Leonardis 2012:22340599}" "4-generation family, 14 affecteds" "F" "" "Slovenia" "" "0" "" "" "" "" "00094711" "" "" "" "1" "" "01500" "{PMID:Leonardis 2012:22340599}" "4-generation family, 14 affecteds" "M" "" "Slovenia" "" "0" "" "" "" "" "00094712" "" "" "" "1" "" "01500" "{PMID:Leonardis 2012:22340599}" "4-generation family, 14 affecteds" "F" "" "Slovenia" "" "0" "" "" "" "" "00094713" "" "" "" "1" "" "01500" "{PMID:Leonardis 2012:22340599}" "4-generation family, 14 affecteds" "F" "" "Slovenia" "" "0" "" "" "" "" "00094714" "" "" "" "1" "" "01500" "{PMID:Leonardis 2012:22340599}" "4-generation family, 14 affecteds" "F" "" "Slovenia" "" "0" "" "" "" "" "00094715" "" "" "" "1" "" "01500" "{PMID:Leonardis 2012:22340599}" "4-generation family, 14 affecteds" "F" "" "Slovenia" "" "0" "" "" "" "" "00094716" "" "" "" "1" "" "01500" "{PMID:Leonardis 2012:22340599}" "4-generation family, 14 affecteds" "M" "" "Slovenia" "" "0" "" "" "" "" "00094717" "" "" "" "1" "" "01500" "{PMID:Leonardis 2012:22340599}" "4-generation family, 14 affecteds" "M" "" "Slovenia" "" "0" "" "" "" "" "00094718" "" "" "" "1" "" "01500" "{PMID:Leonardis 2012:22340599}" "4-generation family, 14 affecteds" "M" "" "Slovenia" "" "0" "" "" "" "" "00094719" "" "" "" "1" "" "01500" "{PMID:Svenstrup 2009:19423133}" "sporadic case" "?" "" "Denmark" "" "0" "" "" "" "" "00094720" "" "" "" "1" "" "01500" "{PMID:Svenstrup 2009:19423133}" "4-generation family, 6 affecteds" "F" "" "Denmark" "" "0" "" "" "" "" "00094721" "" "" "" "1" "" "01500" "{PMID:Svenstrup 2009:19423133}" "4-generation family, 6 affecteds" "F" "" "Denmark" "" "0" "" "" "" "" "00094722" "" "" "" "1" "" "01500" "{PMID:Svenstrup 2009:19423133}" "4-generation family, 6 affecteds" "F" "" "Denmark" "" "0" "" "" "" "" "00094723" "" "" "" "1" "" "01500" "{PMID:Svenstrup 2009:19423133}" "4-generation family, 6 affecteds" "F" "" "Denmark" "" "0" "" "" "" "" "00094724" "" "" "" "1" "" "01500" "{PMID:Svenstrup 2009:19423133}" "4-generation family, 6 affecteds" "M" "" "Denmark" "" "0" "" "" "" "" "00094725" "" "" "" "1" "" "01500" "{PMID:Svenstrup 2009:19423133}" "4-generation family, 6 affecteds" "F" "" "Denmark" "" "0" "" "" "" "" "00094726" "" "" "" "1" "" "01500" "{PMID:Svenstrup 2009:19423133}" "familial case with pure phenotype" "?" "" "Denmark" "" "0" "" "" "" "" "00094727" "" "" "" "1" "" "01500" "{PMID:Svenstrup 2009:19423133}" "2-generation family, 2 affecteds, only one with variant" "F" "" "Denmark" "" "0" "" "" "" "" "00094728" "" "" "" "1" "" "01500" "{PMID:Svenstrup 2009:19423133}" "2-generation family, 2 affecteds, only one with variant" "M" "" "Denmark" "" "0" "" "" "" "" "00094729" "" "" "" "1" "" "01500" "{PMID:Yonekawa 2014:25193411}" "neonatal onset in sporadic case" "M" "" "" "" "0" "" "" "" "" "00094730" "" "" "" "1" "" "01500" "{PMID:Lu 2014:25454648}" "5-generation family, 18 affecteds" "M" "" "" "" "0" "" "" "" "" "00094731" "" "" "" "1" "" "01500" "{PMID:Lu 2014:25454648}" "5-generation family, 18 affecteds" "M" "" "" "" "0" "" "" "" "" "00094732" "" "" "" "1" "" "01500" "{PMID:Lu 2014:25454648}" "5-generation family, 18 affecteds" "M" "" "" "" "0" "" "" "" "" "00094733" "" "" "" "1" "" "01500" "{PMID:Lu 2014:25454648}" "5-generation family, 18 affecteds" "M" "" "" "" "0" "" "" "" "" "00094734" "" "" "" "1" "" "01500" "{PMID:Lu 2014:25454648}" "5-generation family, 18 affecteds" "F" "" "" "" "0" "" "" "" "" "00094735" "" "" "" "1" "" "01500" "{PMID:Lu 2014:25454648}" "5-generation family, 18 affecteds" "F" "" "" "" "0" "" "" "" "" "00094736" "" "" "" "1" "" "01500" "{PMID:Lu 2014:25454648}" "5-generation family, 18 affecteds" "F" "" "" "" "0" "" "" "" "" "00094737" "" "" "" "1" "" "01500" "{PMID:Lu 2014:25454648}" "5-generation family, 18 affecteds" "F" "" "" "" "0" "" "" "" "" "00094738" "" "" "" "1" "" "01500" "{PMID:Lu 2014:25454648}" "5-generation family, 18 affecteds" "F" "" "" "" "0" "" "" "" "" "00094739" "" "" "" "1" "" "01500" "{PMID:Lu 2014:25454648}" "5-generation family, 18 affecteds" "F" "" "" "" "0" "" "" "" "" "00094740" "" "" "" "1" "" "01500" "{PMID:Lu 2014:25454648}" "5-generation family, 18 affecteds" "F" "" "" "" "0" "" "" "" "" "00094741" "" "" "" "1" "" "01500" "{PMID:Lu 2014:25454648}" "5-generation family, 18 affecteds" "M" "" "" "" "0" "" "" "" "" "00094742" "" "" "" "1" "" "01500" "{PMID:Lu 2014:25454648}" "5-generation family, 18 affecteds" "F" "" "" "" "0" "" "" "" "" "00094743" "" "" "" "1" "" "01500" "{PMID:Lu 2014:25454648}" "5-generation family, 18 affecteds" "F" "" "" "" "0" "" "" "" "" "00094744" "" "" "" "1" "" "01500" "{PMID:Lu 2014:25454648}" "5-generation family, 18 affecteds" "F" "" "" "" "0" "" "" "" "" "00094745" "" "" "" "1" "" "01500" "{PMID:Lu 2014:25454648}" "5-generation family, 18 affecteds" "F" "" "" "" "0" "" "" "" "" "00094746" "" "" "" "1" "" "01500" "{PMID:Lu 2014:25454648}" "5-generation family, 18 affecteds" "M" "" "" "" "0" "" "" "" "" "00094747" "" "" "" "1" "" "01500" "{PMID:Lu 2014:25454648}" "5-generation family, 18 affecteds" "M" "" "" "" "0" "" "" "" "" "00094748" "" "" "" "1" "" "01500" "{PMID:Lu 2014:25454648}" "new variant in exon 12" "F" "" "" "" "0" "" "" "" "" "00094749" "" "" "00057796" "1" "" "01500" "{PMID:Varga 2013:23483706}" "5-generation family, 21 affecteds" "M" "" "" "" "0" "" "" "" "" "00094750" "" "" "00057796" "1" "" "01500" "{PMID:Varga 2013:23483706}" "5-generation family, 21 affecteds" "M" "" "" "" "0" "" "" "" "" "00094751" "" "" "00057796" "1" "" "01500" "{PMID:Varga 2013:23483706}" "5-generation family, 21 affecteds" "M" "" "" "" "0" "" "" "" "" "00094752" "" "" "00057796" "1" "" "01500" "{PMID:Varga 2013:23483706}" "5-generation family, 21 affecteds" "F" "" "" "" "0" "" "" "" "" "00094753" "" "" "00057796" "1" "" "01500" "{PMID:Varga 2013:23483706}" "5-generation family, 21 affecteds" "M" "" "" "" "0" "" "" "" "" "00094754" "" "" "00057796" "1" "" "01500" "{PMID:Varga 2013:23483706}" "5-generation family, 21 affecteds" "F" "" "" "" "0" "" "" "" "" "00094755" "" "" "00057796" "1" "" "01500" "{PMID:Varga 2013:23483706}" "5-generation family, 21 affecteds" "F" "" "" "" "0" "" "" "" "" "00094756" "" "" "00057796" "1" "" "01500" "{PMID:Varga 2013:23483706}" "5-generation family, 21 affecteds" "F" "" "" "" "0" "" "" "" "" "00094757" "" "" "00057796" "1" "" "01500" "{PMID:Varga 2013:23483706}" "5-generation family, 21 affecteds" "F" "" "" "" "0" "" "" "" "" "00094758" "" "" "00057796" "1" "" "01500" "{PMID:Varga 2013:23483706}" "5-generation family, 21 affecteds" "F" "" "" "" "0" "" "" "" "" "00094759" "" "" "00057796" "1" "" "01500" "{PMID:Varga 2013:23483706}" "5-generation family, 21 affecteds" "M" "" "" "" "0" "" "" "" "" "00094760" "" "" "00057796" "1" "" "01500" "{PMID:Varga 2013:23483706}" "5-generation family, 21 affecteds" "M" "" "" "" "0" "" "" "" "" "00094761" "" "" "00057796" "1" "" "01500" "{PMID:Varga 2013:23483706}" "5-generation family, 21 affecteds" "M" "" "" "" "0" "" "" "" "" "00094762" "" "" "00057796" "1" "" "01500" "{PMID:Varga 2013:23483706}" "5-generation family, 21 affecteds" "M" "" "" "" "0" "" "" "" "" "00094763" "" "" "00057796" "1" "" "01500" "{PMID:Varga 2013:23483706}" "5-generation family, 21 affecteds" "M" "" "" "" "0" "" "" "" "" "00094764" "" "" "00057796" "1" "" "01500" "{PMID:Varga 2013:23483706}" "5-generation family, 21 affecteds" "M" "" "" "" "0" "" "" "" "" "00094765" "" "" "00057796" "1" "" "01500" "{PMID:Varga 2013:23483706}" "5-generation family, 21 affecteds" "M" "" "" "" "0" "" "" "" "" "00094766" "" "" "00057796" "1" "" "01500" "{PMID:Varga 2013:23483706}" "5-generation family, 21 affecteds" "F" "" "" "" "0" "" "" "" "" "00094767" "" "" "00057796" "1" "" "01500" "{PMID:Varga 2013:23483706}" "5-generation family, 21 affecteds" "M" "" "" "" "0" "" "" "" "" "00094768" "" "" "00057796" "1" "" "01500" "{PMID:Varga 2013:23483706}" "5-generation family, 21 affecteds" "F" "" "" "" "0" "" "" "" "" "00094769" "" "" "" "1" "" "01500" "{PMID:Varga 2013:23483706}" "2-generation family, 1 affected, 2 asymptomatic" "M" "" "Spain" "" "0" "" "" "" "" "00094770" "" "" "" "1" "" "01500" "{PMID:Varga 2013:23483706}" "2-generation family, 1 affected, 2 asymptomatic" "M" "" "Spain" "" "0" "" "" "" "" "00094771" "" "" "" "1" "" "01500" "{PMID:Varga 2013:23483706}" "2-generation family, 1 affected, 2 asymptomatic" "M" "" "Spain" "" "0" "" "" "" "" "00094772" "" "" "" "1" "" "01500" "{PMID:Varga 2013:23483706}" "4-generation family, 14 affecteds" "F" "" "" "" "0" "" "" "" "" "00094773" "" "" "" "1" "" "01500" "{PMID:Varga 2013:23483706}" "4-generation family, 14 affecteds" "F" "" "" "" "0" "" "" "" "" "00094774" "" "" "" "1" "" "01500" "{PMID:Varga 2013:23483706}" "4-generation family, 14 affecteds" "F" "" "" "" "0" "" "" "" "" "00094775" "" "" "" "1" "" "01500" "{PMID:Varga 2013:23483706}" "4-generation family, 14 affecteds" "F" "" "" "" "0" "" "" "" "" "00094776" "" "" "" "1" "" "01500" "{PMID:Varga 2013:23483706}" "4-generation family, 14 affecteds" "F" "" "" "" "0" "" "" "" "" "00094777" "" "" "" "1" "" "01500" "{PMID:Varga 2013:23483706}" "4-generation family, 14 affecteds" "M" "" "" "" "0" "" "" "" "" "00094778" "" "" "" "1" "" "01500" "{PMID:Varga 2013:23483706}" "4-generation family, 14 affecteds" "M" "" "" "" "0" "" "" "" "" "00094779" "" "" "" "1" "" "01500" "{PMID:Varga 2013:23483706}" "4-generation family, 14 affecteds" "M" "" "" "" "0" "" "" "" "" "00094780" "" "" "" "1" "" "01500" "{PMID:Varga 2013:23483706}" "4-generation family, 14 affecteds" "M" "" "" "" "0" "" "" "" "" "00094781" "" "" "" "1" "" "01500" "{PMID:Varga 2013:23483706}" "4-generation family, 14 affecteds" "F" "" "" "" "0" "" "" "" "" "00094782" "" "" "" "1" "" "01500" "{PMID:Varga 2013:23483706}" "4-generation family, 14 affecteds" "M" "" "" "" "0" "" "" "" "" "00094783" "" "" "" "1" "" "01500" "{PMID:Varga 2013:23483706}" "4-generation family, 14 affecteds" "M" "" "" "" "0" "" "" "" "" "00094784" "" "" "" "1" "" "01500" "{PMID:Varga 2013:23483706}" "4-generation family, 14 affecteds" "M" "" "" "" "0" "" "" "" "" "00094785" "" "" "" "1" "" "01500" "{PMID:Varga 2013:23483706}" "4-generation family, 14 affecteds" "M" "" "" "" "0" "" "" "" "" "00094786" "" "" "" "1" "" "01500" "{PMID:Varga 2013:23483706}" "3-generation family, 5 affecteds" "F" "" "" "" "0" "" "" "" "" "00094787" "" "" "" "1" "" "01500" "{PMID:Varga 2013:23483706}" "3-generation family, 5 affecteds" "M" "" "" "" "0" "" "" "" "" "00094788" "" "" "" "1" "" "01500" "{PMID:Varga 2013:23483706}" "3-generation family, 5 affecteds" "F" "" "" "" "0" "" "" "" "" "00094789" "" "" "" "1" "" "01500" "{PMID:Varga 2013:23483706}" "3-generation family, 5 affecteds" "M" "" "" "" "0" "" "" "" "" "00094790" "" "" "" "1" "" "01500" "{PMID:Varga 2013:23483706}" "3-generation family, 5 affecteds" "M" "" "" "" "0" "" "" "" "" "00094791" "" "" "00057833" "1" "" "01500" "{PMID:Varga 2013:23483706}" "4-generation family, 4 homozygous affecteds" "F" "" "Morocco" "" "0" "" "" "" "" "00094792" "" "" "00057833" "1" "" "01500" "{PMID:Varga 2013:23483706}" "4-generation family, 4 homozygous affecteds" "F" "" "Morocco" "" "0" "" "" "" "" "00094793" "" "" "00057833" "1" "" "01500" "{PMID:Varga 2013:23483706}" "4-generation family, 4 homozygous affecteds" "F" "" "Morocco" "" "0" "" "" "" "" "00094794" "" "" "" "1" "" "01500" "{PMID:Fusco 2010:19735987}" "de novo mutation in female" "F" "" "" "" "0" "" "" "" "" "00094795" "" "" "" "1" "" "01500" "{PMID:D\'Amico 2004:15184642}" "5-generation family, 15 affecteds" "M" "" "Italy" "" "0" "" "" "" "" "00094796" "" "" "" "1" "" "01500" "{PMID:D\'Amico 2004:15184642}" "5-generation family, 15 affecteds" "F" "" "Italy" "" "0" "" "" "" "" "00094797" "" "" "" "1" "" "01500" "{PMID:D\'Amico 2004:15184642}" "5-generation family, 15 affecteds" "M" "" "Italy" "" "0" "" "" "" "" "00094798" "" "" "" "1" "" "01500" "{PMID:D\'Amico 2004:15184642}" "5-generation family, 15 affecteds" "M" "" "Italy" "" "0" "" "" "" "" "00094799" "" "" "" "1" "" "01500" "{PMID:D\'Amico 2004:15184642}" "5-generation family, 15 affecteds" "M" "" "Italy" "" "0" "" "" "" "" "00094800" "" "" "" "1" "" "01500" "{PMID:D\'Amico 2004:15184642}" "5-generation family, 15 affecteds" "F" "" "Italy" "" "0" "" "" "" "" "00094801" "" "" "" "1" "" "01500" "{PMID:D\'Amico 2004:15184642}" "5-generation family, 15 affecteds" "M" "" "Italy" "" "0" "" "" "" "" "00094802" "" "" "" "1" "" "01500" "{PMID:D\'Amico 2004:15184642}" "5-generation family, 15 affecteds" "F" "" "Italy" "" "0" "" "" "" "" "00094803" "" "" "" "1" "" "01500" "{PMID:D\'Amico 2004:15184642}" "5-generation family, 15 affecteds" "M" "" "Italy" "" "0" "" "" "" "" "00094804" "" "" "" "1" "" "01500" "{PMID:D\'Amico 2004:15184642}" "5-generation family, 15 affecteds" "F" "" "Italy" "" "0" "" "" "" "" "00094805" "" "" "" "1" "" "01500" "{PMID:D\'Amico 2004:15184642}" "5-generation family, 15 affecteds" "M" "" "Italy" "" "0" "" "" "" "" "00094806" "" "" "" "1" "" "01500" "{PMID:D\'Amico 2004:15184642}" "5-generation family, 15 affecteds" "M" "" "Italy" "" "0" "" "" "" "" "00094807" "" "" "" "1" "" "01500" "{PMID:D\'Amico 2004:15184642}" "5-generation family, 15 affecteds" "M" "" "Italy" "" "0" "" "" "" "" "00094808" "" "" "" "1" "" "01500" "{PMID:D\'Amico 2004:15184642}" "5-generation family, 15 affecteds" "F" "" "Italy" "" "0" "" "" "" "" "00094809" "" "" "" "1" "" "01500" "{PMID:D\'Amico 2004:15184642}" "5-generation family, 15 affecteds" "M" "" "Italy" "" "0" "" "" "" "" "00094810" "" "" "" "1" "" "01500" "{PMID:D\'Amico 2004:15184642}" "5-generation family, 15 affecteds" "F" "" "Italy" "" "0" "" "" "" "" "00094811" "" "" "" "1" "" "01500" "{PMID:Namekawa 2006:16401858}" "1. family with variant in exon 7" "?" "" "" "" "0" "" "" "" "" "00094812" "" "" "" "1" "" "01500" "{PMID:Namekawa 2006:16401858}" "2. family with variant in exon 7" "?" "" "" "" "0" "" "" "" "" "00094813" "" "" "" "1" "" "01500" "{PMID:Namekawa 2006:16401858}" "1 family with variant in exon 12" "?" "" "" "" "0" "" "" "" "" "00094814" "" "" "" "1" "" "01500" "{PMID:Namekawa 2006:16401858}" "1 family with variant in exon 9" "?" "" "" "" "0" "" "" "" "" "00094815" "" "" "" "1" "" "01500" "{PMID:Namekawa 2006:16401858}" "1 family with variant in exon 8" "?" "" "" "" "0" "" "" "" "" "00094816" "" "" "" "1" "" "01500" "{PMID:Namekawa 2006:16401858}" "1 family with variant in exon 4" "?" "" "" "" "0" "" "" "" "" "00094817" "" "" "" "1" "" "01500" "{PMID:Namekawa 2006:16401858}" "1 family with variant in exon 12" "?" "" "" "" "0" "" "" "" "" "00094818" "" "" "" "1" "" "01500" "{PMID:Dalpozzo 2003:12939451}" "3-generation family, 7 affecteds" "M" "" "" "" "0" "" "" "" "" "00094819" "" "" "" "1" "" "01500" "{PMID:Dalpozzo 2003:12939451}" "3-generation family, 7 affecteds" "F" "" "" "" "0" "" "" "" "" "00094820" "" "" "" "1" "" "01500" "{PMID:Dalpozzo 2003:12939451}" "3-generation family, 7 affecteds" "M" "" "" "" "0" "" "" "" "" "00094821" "" "" "" "1" "" "01500" "{PMID:Dalpozzo 2003:12939451}" "3-generation family, 7 affecteds" "F" "" "" "" "0" "" "" "" "" "00094822" "" "" "" "1" "" "01500" "{PMID:Dalpozzo 2003:12939451}" "3-generation family, 7 affecteds" "M" "" "" "" "0" "" "" "" "" "00094823" "" "" "" "1" "" "01500" "{PMID:Dalpozzo 2003:12939451}" "3-generation family, 7 affecteds" "F" "" "" "" "0" "" "" "" "" "00094824" "" "" "" "1" "" "01500" "{PMID:Dalpozzo 2003:12939451}" "3-generation family, 7 affecteds" "M" "" "" "" "0" "" "" "" "" "00094825" "" "" "" "1" "" "01500" "{PMID:Di Fabio 2014:24417445}" "4-generation family, 2 affecteds" "M" "" "" "" "0" "" "" "" "" "00094826" "" "" "" "1" "" "01500" "{PMID:Di Fabio 2014:24417445}" "4-generation family, 2 affecteds" "M" "" "" "" "0" "" "" "" "" "00094827" "" "" "" "1" "" "01500" "{PMID:Orlacchio 2011:21336785}" "3-generation family, 10 affecteds" "M" "" "South Africa" "" "0" "" "" "" "" "00094828" "" "" "" "1" "" "01500" "{PMID:Orlacchio 2011:21336785}" "3-generation family, 10 affecteds" "M" "" "South Africa" "" "0" "" "" "" "" "00094829" "" "" "" "1" "" "01500" "{PMID:Orlacchio 2011:21336785}" "3-generation family, 10 affecteds" "M" "" "South Africa" "" "0" "" "" "" "" "00094830" "" "" "" "1" "" "01500" "{PMID:Orlacchio 2011:21336785}" "3-generation family, 10 affecteds" "F" "" "South Africa" "" "0" "" "" "" "" "00094831" "" "" "" "1" "" "01500" "{PMID:Orlacchio 2011:21336785}" "3-generation family, 10 affecteds" "F" "" "South Africa" "" "0" "" "" "" "" "00094832" "" "" "" "1" "" "01500" "{PMID:Orlacchio 2011:21336785}" "3-generation family, 10 affecteds" "M" "" "South Africa" "" "0" "" "" "" "" "00094833" "" "" "" "1" "" "01500" "{PMID:Orlacchio 2011:21336785}" "3-generation family, 10 affecteds" "F" "" "South Africa" "" "0" "" "" "" "" "00094834" "" "" "" "1" "" "01500" "{PMID:Orlacchio 2011:21336785}" "3-generation family, 10 affecteds" "M" "" "South Africa" "" "0" "" "" "" "" "00094835" "" "" "" "1" "" "01500" "{PMID:Orlacchio 2011:21336785}" "3-generation family, 10 affecteds" "F" "" "South Africa" "" "0" "" "" "" "" "00094836" "" "" "" "1" "" "01500" "{PMID:Orlacchio 2011:21336785}" "3-generation family, 10 affecteds" "M" "" "South Africa" "" "0" "" "" "" "" "00094837" "" "" "" "1" "" "01500" "{PMID:Magariello 2012:22581552}" "2-generation family, 3 affecteds" "F" "" "" "" "0" "" "" "" "" "00094838" "" "" "" "1" "" "01500" "{PMID:Magariello 2012:22581552}" "2-generation family, 3 affecteds" "M" "" "" "" "0" "" "" "" "" "00094839" "" "" "" "1" "" "01500" "{PMID:Magariello 2012:22581552}" "2-generation family, 3 affecteds" "F" "" "" "" "0" "" "" "" "" "00094840" "" "" "" "1" "" "01500" "{PMID:de Leva 2010:19768483}" "Case 2" "M" "" "" "" "0" "" "" "" "" "00094841" "" "" "" "1" "" "01500" "{PMID:de Leva 2010:19768483}" "Case 1" "F" "" "" "" "0" "" "" "" "" "00094842" "" "" "" "1" "" "01500" "{PMID:Matsui 2007:17380240}" "3-generation family, 3 affecteds" "?" "" "Japan" "" "0" "" "" "" "" "00094843" "" "" "" "1" "" "01500" "{PMID:Matsui 2007:17380240}" "3-generation family, 3 affecteds" "?" "" "Japan" "" "0" "" "" "" "" "00094844" "" "" "" "1" "" "01500" "{PMID:Matsui 2007:17380240}" "3-generation family, 3 affecteds" "?" "" "Japan" "" "0" "" "" "" "" "00094845" "" "" "" "1" "" "01500" "{PMID:Shin 2014:24969372}" "2-generation family, 3 affecteds" "M" "" "Korea" "" "0" "" "" "" "" "00094846" "" "" "" "1" "" "01500" "{PMID:Shin 2014:24969372}" "2-generation family, 3 affecteds" "M" "" "Korea" "" "0" "" "" "" "" "00094847" "" "" "" "1" "" "01500" "{PMID:Shin 2014:24969372}" "2-generation family, 3 affecteds" "F" "" "Korea" "" "0" "" "" "" "" "00094848" "" "" "" "1" "" "01500" "{PMID:Meijer 2007:17427918}" "5 patients in family" "?" "" "Canada" "" "0" "" "" "" "" "00094849" "" "" "" "1" "" "01500" "{PMID:Meijer 2007:17427918}" "5 patients in family" "?" "" "Canada" "" "0" "" "" "" "" "00094850" "" "" "" "1" "" "01500" "{PMID:Meijer 2007:17427918}" "5 patients in family" "?" "" "Canada" "" "0" "" "" "" "" "00094851" "" "" "" "1" "" "01500" "{PMID:Meijer 2007:17427918}" "5 patients in family" "?" "" "Canada" "" "0" "" "" "" "" "00094852" "" "" "" "1" "" "01500" "{PMID:Meijer 2007:17427918}" "5 patients in family" "?" "" "Canada" "" "0" "" "" "" "" "00094853" "" "" "" "1" "" "01500" "{PMID:Meijer 2007:17427918}" "4 patients in family" "?" "" "Canada" "" "0" "" "" "" "" "00094854" "" "" "" "1" "" "01500" "{PMID:Meijer 2007:17427918}" "4 patients in family" "?" "" "Canada" "" "0" "" "" "" "" "00094855" "" "" "" "1" "" "01500" "{PMID:Meijer 2007:17427918}" "4 patients in family" "?" "" "Canada" "" "0" "" "" "" "" "00094856" "" "" "" "1" "" "01500" "{PMID:Meijer 2007:17427918}" "4 patients in family" "?" "" "Canada" "" "0" "" "" "" "" "00094857" "" "" "" "1" "" "01500" "{PMID:Tessa 2002:12499504}" "5-generation family, 14 affecteds" "F" "" "" "" "0" "" "" "" "" "00094858" "" "" "" "1" "" "01500" "{PMID:Tessa 2002:12499504}" "5-generation family, 14 affecteds" "M" "" "" "" "0" "" "" "" "" "00094859" "" "" "" "1" "" "01500" "{PMID:Tessa 2002:12499504}" "5-generation family, 14 affecteds" "M" "" "" "" "0" "" "" "" "" "00094860" "" "" "" "1" "" "01500" "{PMID:Tessa 2002:12499504}" "5-generation family, 14 affecteds" "M" "" "" "" "0" "" "" "" "" "00094861" "" "" "" "1" "" "01500" "{PMID:Tessa 2002:12499504}" "5-generation family, 14 affecteds" "F" "" "" "" "0" "" "" "" "" "00094862" "" "" "" "1" "" "01500" "{PMID:Tessa 2002:12499504}" "5-generation family, 14 affecteds" "M" "" "" "" "0" "" "" "" "" "00094863" "" "" "" "1" "" "01500" "{PMID:Tessa 2002:12499504}" "5-generation family, 14 affecteds" "M" "" "" "" "0" "" "" "" "" "00094864" "" "" "" "1" "" "01500" "{PMID:Tessa 2002:12499504}" "5-generation family, 14 affecteds" "F" "" "" "" "0" "" "" "" "" "00094865" "" "" "" "1" "" "01500" "{PMID:Tessa 2002:12499504}" "5-generation family, 14 affecteds" "F" "" "" "" "0" "" "" "" "" "00094866" "" "" "" "1" "" "01500" "{PMID:Tessa 2002:12499504}" "5-generation family, 14 affecteds" "M" "" "" "" "0" "" "" "" "" "00094867" "" "" "" "1" "" "01500" "{PMID:Tessa 2002:12499504}" "5-generation family, 14 affecteds" "F" "" "" "" "0" "" "" "" "" "00094868" "" "" "" "1" "" "01500" "{PMID:Tessa 2002:12499504}" "5-generation family, 14 affecteds" "M" "" "" "" "0" "" "" "" "" "00094869" "" "" "" "1" "" "01500" "{PMID:Tessa 2002:12499504}" "5-generation family, 14 affecteds" "F" "" "" "" "0" "" "" "" "" "00094870" "" "" "" "1" "" "01500" "{PMID:Tessa 2002:12499504}" "5-generation family, 14 affecteds" "F" "" "" "" "0" "" "" "" "" "00094871" "" "" "" "1" "" "01500" "{PMID:Loureiro 2008:18664244}" "3-generation family, 3 affecteds" "M" "" "Portugal" "" "0" "" "" "" "" "00094872" "" "" "" "1" "" "01500" "{PMID:Loureiro 2008:18664244}" "3-generation family, 3 affecteds" "M" "" "Portugal" "" "0" "" "" "" "" "00094873" "" "" "" "1" "" "01500" "{PMID:Loureiro 2008:18664244}" "3-generation family, 3 affecteds" "F" "" "Portugal" "" "0" "" "" "" "" "00094874" "" "" "" "1" "" "01500" "{PMID:Sulek 2013:22203332}" "1 patient with del exon 3" "?" "" "Poland" "" "0" "" "" "" "" "00094875" "" "" "" "1" "" "01500" "{PMID:Al-Maawali 2011:21321493}" "3-generation family, 9 affecteds" "F" "" "" "" "0" "" "" "" "" "00094876" "" "" "" "1" "" "01500" "{PMID:Al-Maawali 2011:21321493}" "3-generation family, 9 affecteds" "F" "" "" "" "0" "" "" "" "" "00094877" "" "" "" "1" "" "01500" "{PMID:Al-Maawali 2011:21321493}" "3-generation family, 9 affecteds" "M" "" "" "" "0" "" "" "" "" "00094878" "" "" "" "1" "" "01500" "{PMID:Al-Maawali 2011:21321493}" "3-generation family, 9 affecteds" "F" "" "" "" "0" "" "" "" "" "00094879" "" "" "" "1" "" "01500" "{PMID:Al-Maawali 2011:21321493}" "3-generation family, 9 affecteds" "F" "" "" "" "0" "" "" "" "" "00094880" "" "" "" "1" "" "01500" "{PMID:Al-Maawali 2011:21321493}" "3-generation family, 9 affecteds" "M" "" "" "" "0" "" "" "" "" "00094881" "" "" "" "1" "" "01500" "{PMID:Al-Maawali 2011:21321493}" "3-generation family, 9 affecteds" "M" "" "" "" "0" "" "" "" "" "00094882" "" "" "" "1" "" "01500" "{PMID:Al-Maawali 2011:21321493}" "3-generation family, 9 affecteds" "M" "" "" "" "0" "" "" "" "" "00094883" "" "" "" "1" "" "01500" "{PMID:Al-Maawali 2011:21321493}" "3-generation family, 9 affecteds" "F" "" "" "" "0" "" "" "" "" "00094884" "" "" "" "1" "" "01500" "{PMID:Terada 2013:23233086}" "3-generation family, 5 affecteds" "F" "" "Japan" "" "0" "" "" "" "" "00094885" "" "" "" "1" "" "01500" "{PMID:Terada 2013:23233086}" "3-generation family, 5 affecteds" "F" "" "Japan" "" "0" "" "" "" "" "00094886" "" "" "" "1" "" "01500" "{PMID:Terada 2013:23233086}" "3-generation family, 5 affecteds" "F" "" "Japan" "" "0" "" "" "" "" "00094887" "" "" "" "1" "" "01500" "{PMID:Terada 2013:23233086}" "3-generation family, 5 affecteds" "F" "" "Japan" "" "0" "" "" "" "" "00094888" "" "" "" "1" "" "01500" "{PMID:Terada 2013:23233086}" "3-generation family, 5 affecteds" "M" "" "Japan" "" "0" "" "" "" "" "00094889" "" "" "" "1" "" "01500" "{PMID:Wilkinson 2003:14607301}" "3-generation family, 6 affecteds" "F" "" "" "" "0" "" "" "" "" "00094890" "" "" "" "1" "" "01500" "{PMID:Wilkinson 2003:14607301}" "3-generation family, 6 affecteds" "M" "" "" "" "0" "" "" "" "" "00094891" "" "" "" "1" "" "01500" "{PMID:Wilkinson 2003:14607301}" "3-generation family, 6 affecteds" "M" "" "" "" "0" "" "" "" "" "00094892" "" "" "" "1" "" "01500" "{PMID:Wilkinson 2003:14607301}" "3-generation family, 6 affecteds" "F" "" "" "" "0" "" "" "" "" "00094893" "" "" "" "1" "" "01500" "{PMID:Wilkinson 2003:14607301}" "3-generation family, 6 affecteds" "F" "" "" "" "0" "" "" "" "" "00094894" "" "" "" "1" "" "01500" "{PMID:Wilkinson 2003:14607301}" "3-generation family, 6 affecteds" "M" "" "" "" "0" "" "" "" "" "00094895" "" "" "" "1" "" "01500" "{PMID:Park 2015:26208798}" "patient 52 with no family history" "F" "" "" "" "0" "" "" "" "" "00094896" "" "" "" "1" "" "01500" "{PMID:Park 2015:26208798}" "patient 51 with family history" "M" "" "" "" "0" "" "" "" "" "00094897" "" "" "" "1" "" "01500" "{PMID:Park 2015:26208798}" "patient 53 with family history" "M" "" "" "" "0" "" "" "" "" "00094898" "" "" "" "1" "" "01500" "{PMID:Park 2015:26208798}" "patient 50 with no family history" "M" "" "" "" "0" "" "" "" "" "00094899" "" "" "" "1" "" "01500" "{PMID:Balicza 2016:27084228}" "Proband 1 with family history" "?" "" "Hungary" "" "0" "" "" "" "" "00094900" "" "" "" "1" "" "01500" "{PMID:Luo 2014:25341883}" "1 sporadic case in family" "?" "" "China" "" "0" "" "" "" "" "00094901" "" "" "" "1" "" "01500" "{PMID:Luo 2014:25341883}" "new case in family" "?" "" "China" "" "0" "" "" "" "" "00094902" "" "" "" "1" "" "01500" "{PMID:Luo 2014:25341883}" "family with 15 probands" "?" "" "China" "" "0" "" "" "" "" "00094903" "" "" "" "1" "" "01500" "{PMID:Luo 2014:25341883}" "family with 15 probands" "M" "" "China" "" "0" "" "" "" "" "00094904" "" "" "" "1" "" "01500" "{PMID:Luo 2014:25341883}" "family with 15 probands" "?" "" "China" "" "0" "" "" "" "" "00094905" "" "" "" "1" "" "01500" "{PMID:Luo 2014:25341883}" "family with 15 probands" "?" "" "China" "" "0" "" "" "" "" "00094906" "" "" "" "1" "" "01500" "{PMID:Luo 2014:25341883}" "family with 15 probands" "?" "" "China" "" "0" "" "" "" "" "00094907" "" "" "" "1" "" "01500" "{PMID:Luo 2014:25341883}" "family with 15 probands" "?" "" "China" "" "0" "" "" "" "" "00094908" "" "" "" "1" "" "01500" "{PMID:Luo 2014:25341883}" "family with 15 probands" "?" "" "China" "" "0" "" "" "" "" "00094909" "" "" "" "1" "" "01500" "{PMID:Luo 2014:25341883}" "family with 15 probands" "?" "" "China" "" "0" "" "" "" "" "00094910" "" "" "" "1" "" "01500" "{PMID:Luo 2014:25341883}" "family with 15 probands" "?" "" "China" "" "0" "" "" "" "" "00094911" "" "" "" "1" "" "01500" "{PMID:Luo 2014:25341883}" "family with 15 probands" "?" "" "China" "" "0" "" "" "" "" "00094912" "" "" "" "1" "" "01500" "{PMID:Luo 2014:25341883}" "family with 15 probands" "?" "" "China" "" "0" "" "" "" "" "00094913" "" "" "" "1" "" "01500" "{PMID:Luo 2014:25341883}" "family with 15 probands" "?" "" "China" "" "0" "" "" "" "" "00094914" "" "" "" "1" "" "01500" "{PMID:Luo 2014:25341883}" "family with 15 probands" "?" "" "China" "" "0" "" "" "" "" "00094915" "" "" "" "1" "" "01500" "{PMID:Luo 2014:25341883}" "family with 15 probands" "?" "" "China" "" "0" "" "" "" "" "00094916" "" "" "" "1" "" "01500" "{PMID:Luo 2014:25341883}" "family with 15 probands" "?" "" "China" "" "0" "" "" "" "" "00094917" "" "" "" "1" "" "01500" "{PMID:Muglia 2002:12382159}" "5-generation family, 13 affecteds" "F" "" "Italy" "" "0" "" "" "" "" "00094918" "" "" "" "1" "" "01500" "{PMID:Muglia 2002:12382159}" "5-generation family, 13 affecteds" "M" "" "Italy" "" "0" "" "" "" "" "00094919" "" "" "" "1" "" "01500" "{PMID:Muglia 2002:12382159}" "5-generation family, 13 affecteds" "F" "" "Italy" "" "0" "" "" "" "" "00094920" "" "" "" "1" "" "01500" "{PMID:Muglia 2002:12382159}" "5-generation family, 13 affecteds" "M" "" "Italy" "" "0" "" "" "" "" "00094921" "" "" "" "1" "" "01500" "{PMID:Muglia 2002:12382159}" "5-generation family, 13 affecteds" "M" "" "Italy" "" "0" "" "" "" "" "00094922" "" "" "" "1" "" "01500" "{PMID:Muglia 2002:12382159}" "5-generation family, 13 affecteds" "M" "" "Italy" "" "0" "" "" "" "" "00094923" "" "" "" "1" "" "01500" "{PMID:Muglia 2002:12382159}" "5-generation family, 13 affecteds" "M" "" "Italy" "" "0" "" "" "" "" "00094924" "" "" "" "1" "" "01500" "{PMID:Muglia 2002:12382159}" "5-generation family, 13 affecteds" "F" "" "Italy" "" "0" "" "" "" "" "00094925" "" "" "" "1" "" "01500" "{PMID:Muglia 2002:12382159}" "5-generation family, 13 affecteds" "M" "" "Italy" "" "0" "" "" "" "" "00094926" "" "" "" "1" "" "01500" "{PMID:Muglia 2002:12382159}" "5-generation family, 13 affecteds" "F" "" "Italy" "" "0" "" "" "" "" "00094927" "" "" "" "1" "" "01500" "{PMID:Muglia 2002:12382159}" "5-generation family, 13 affecteds" "M" "" "Italy" "" "0" "" "" "" "" "00094928" "" "" "" "1" "" "01500" "{PMID:Muglia 2002:12382159}" "5-generation family, 13 affecteds" "M" "" "Italy" "" "0" "" "" "" "" "00094929" "" "" "" "1" "" "01500" "{PMID:Muglia 2002:12382159}" "5-generation family, 13 affecteds" "F" "" "Italy" "" "0" "" "" "" "" "00094930" "" "" "" "1" "" "01500" "{PMID:Scarano 2005:15742100}" "2-generation family, 4 affecteds" "M" "" "" "" "0" "" "" "" "" "00094931" "" "" "" "1" "" "01500" "{PMID:Scarano 2005:15742100}" "2-generation 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"01500" "{PMID:Khan 2014:24473461}" "4-generation family, 6 homozygous affecteds" "M" "" "Pakistan" "" "0" "" "" "" "" "00094940" "" "" "00004105" "1" "" "01500" "{PMID:Khan 2014:24473461}" "4-generation family, 6 homozygous affecteds" "M" "" "Pakistan" "" "0" "" "" "" "" "00094941" "" "" "00004105" "1" "" "01500" "{PMID:Khan 2014:24473461}" "4-generation family, 6 homozygous affecteds" "M" "" "Pakistan" "" "0" "" "" "" "" "00094942" "" "" "00004105" "1" "" "01500" "{PMID:Khan 2014:24473461}" "4-generation family, 6 homozygous affecteds" "M" "" "Pakistan" "" "0" "" "" "" "" "00094943" "" "" "00004105" "1" "" "01500" "{PMID:Khan 2014:24473461}" "4-generation family, 6 homozygous affecteds" "M" "" "Pakistan" "" "0" "" "" "" "" "00094944" "" "" "" "1" "" "01500" "{PMID:Chan 2009:19652243}" "3-generation family, 3 affecteds" "M" "" "China" "" "0" "" "" "" "" "00094945" "" "" "" "1" "" "01500" "{PMID:Chan 2009:19652243}" "3-generation family, 3 affecteds" "F" "" "China" "" "0" "" "" "" "" 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"00094906" "00289" "00094907" "00289" "00094908" "00289" "00094909" "00289" "00094910" "00289" "00094911" "00289" "00094912" "00289" "00094913" "00289" "00094914" "00289" "00094915" "00289" "00094916" "00289" "00094917" "00289" "00094918" "00289" "00094919" "00289" "00094920" "00289" "00094921" "00289" "00094922" "00289" "00094923" "00289" "00094924" "00289" "00094925" "00289" "00094926" "00289" "00094927" "00289" "00094928" "00289" "00094929" "00289" "00094930" "00289" "00094931" "00289" "00094932" "00289" "00094933" "00289" "00094934" "00289" "00094935" "00289" "00094936" "00289" "00094937" "00289" "00094938" "00289" "00094939" "00289" "00094940" "00289" "00094941" "00289" "00094942" "00289" "00094943" "00289" "00094944" "00289" "00094945" "00289" "00094946" "00289" "00155240" "00289" "00300312" "00198" "00301400" "00198" "00307691" "00198" "00377109" "00198" "00451673" "00325" "00455774" "00198" "00455775" "00198" "00460218" "00360" "00468664" "00198" "00468665" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00289, 00325, 00360, 03400 ## Count = 710 "{{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}}" "0000002897" "00289" "00004105" "00559" "Familial, autosomal recessive" "45y" "scoliosis, urinary symptoms, pes cavus, decreased vibration sense, paresthesia, numbness, excessive tingling" "01y" "" "" "" "" "" "" "" "" "" "" "0000035826" "00289" "00046993" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044447" "00325" "00057796" "00006" "Familial, autosomal dominant" "" "early onset, clinically pure" "" "" "" "" "" "" "" "" "" "" "" "0000044452" "00289" "00057801" "00006" "Familial, autosomal dominant" "" "childhood-onset spastic gait, similarly affected child, no previous family history of hereditary spastic paraplegia" "" "" "" "" "" "" "" "" "" "" "" "0000044459" "00289" "00057808" "00006" "Familial, autosomal dominant" "" "insidiously progressive lower extremity weakness/spasticity, mean age at onset 8.3y" "" "" "" "" "" "" "" "" "" "" "" "0000044484" "00325" "00057833" "00006" "Familial, autosomal recessive" "42y" "subclinical signs" "" "" "" "" "" "" "" "" "" "" "" "0000045743" "00289" "00059239" "01552" "Familial, autosomal dominant" "05y05m" "spastic paraplegia, hyperreflexia" "00y19m" "" "" "" "" "" "" "" "" "" "" "0000072647" "00289" "00094255" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072648" "00289" "00094256" "01500" "Familial, autosomal dominant" "54y" "hyperlordosis" "7y" "" "" "" "" "" "" "" "" "" "" "0000072649" "00289" "00094257" "01500" "Familial, autosomal dominant" "30y" "pes planus" "1y6m" "" "" "" "" "" "" "" "" "" "" "0000072650" "00289" "00094258" "01500" "Familial, autosomal dominant" "56y" "impaired vibration sense, bladder dysfunction, pes planus, restless legs syndrome, hyperlordosis" "3y" "" "" "" "" "" "" "" "" "" "" "0000072651" "00289" "00094259" "01500" "Familial, autosomal dominant" "14y" "pes planus, restless legs syndrome" "1y6m" "" "" "" "" "" "" "" "" "" "" "0000072652" "00289" "00094260" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072653" "00289" "00094261" "01500" "Familial, autosomal dominant" "57y" "impaired vibration sense, bladder dysfunction, pes equinus, restless legs syndrome" "13y" "" "" "" "" "" "" "" "" "" "" "0000072654" "00289" "00094262" "01500" "Familial, autosomal dominant" "?" "unknown" "<57y" "" "" "" "" "" "" "" "" "" "" "0000072655" "00289" "00094263" "01500" "Familial, autosomal dominant" "47y" "restless legs syndrome" "40y" "" "" "" "" "" "" "" "" "" "" "0000072656" "00289" "00094264" "01500" "Familial, autosomal dominant" "?" "unknown" "<47y" "" "" "" "" "" "" "" "" "" "" "0000072657" "00289" "00094265" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072658" "00289" "00094266" "01500" "Familial, autosomal dominant" "?" "none" "4y" "" "" "" "" "" "" "" "" "" "" "0000072659" "00289" "00094267" "01500" "Familial, autosomal dominant" "?" "none" "4y" "" "" "" "" "" "" "" "" "" "" "0000072660" "00289" "00094268" "01500" "Familial, autosomal dominant" "?" "none" "4y" "" "" "" "" "" "" "" "" "" "" "0000072661" "00289" "00094269" "01500" "Familial, autosomal dominant" "?" "none" "2y" "" "" "" "" "" "" "" "" "" "" "0000072662" "00289" "00094270" "01500" "Familial, autosomal dominant" "?" "none" "2y" "" "" "" "" "" "" "" "" "" "" "0000072663" "00289" "00094271" "01500" "Familial, autosomal dominant" "?" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000072664" "00289" "00094272" "01500" "Familial, autosomal dominant" "?" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000072665" "00289" "00094273" "01500" "Familial, autosomal dominant" "?" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000072666" "00289" "00094274" "01500" "Familial, autosomal dominant" "?" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000072667" "00289" "00094275" "01500" "Familial, autosomal dominant" "?" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000072668" "00289" "00094276" "01500" "Familial, autosomal dominant" "?" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000072669" "00289" "00094277" "01500" "Familial, autosomal dominant" "?" "none" "19y" "" "" "" "" "" "" "" "" "" "" "0000072670" "00289" "00094278" "01500" "Familial, autosomal dominant" "?" "none" "19y" "" "" "" "" "" "" "" "" "" "" "0000072671" "00289" "00094279" "01500" "Familial, autosomal dominant" "?" "distal motor neuropathy, muscle wasting" "10y" "" "" "" "" "" "" "" "" "" "" "0000072672" "00289" "00094280" "01500" "Familial, autosomal dominant" "?" "distal motor neuropathy, muscle wasting" "10y" "" "" "" "" "" "" "" "" "" "" "0000072673" "00289" "00094281" "01500" "Familial, autosomal dominant" "?" "distal motor neuropathy, muscle wasting" "10y" "" "" "" "" "" "" "" "" "" "" "0000072674" "00289" "00094282" "01500" "Familial, autosomal dominant" "?" "none" "15y" "" "" "" "" "" "" "" "" "" "" "0000072675" "00289" "00094283" "01500" "Familial, autosomal dominant" "?" "none" "15y" "" "" "" "" "" "" "" "" "" "" "0000072676" "00289" "00094284" "01500" "Familial, autosomal dominant" "?" "none" "15y" "" "" "" "" "" "" "" "" "" "" "0000072677" "00289" "00094285" "01500" "Familial, autosomal dominant" "?" "none" "12y" "" "" "" "" "" "" "" "" "" "" "0000072678" "00289" "00094286" "01500" "Familial, autosomal dominant" "?" "none" "12y" "" "" "" "" "" "" "" "" "" "" "0000072679" "00289" "00094287" "01500" "Familial, autosomal dominant" "?" "none" "12y" "" "" "" "" "" "" "" "" "" "" "0000072680" "00289" "00094288" "01500" "Familial, autosomal dominant" "?" "distal motor neuropathy, muscle wasting" "3y" "" "" "" "" "" "" "" "" "" "" "0000072681" "00289" "00094289" "01500" "Familial, autosomal dominant" "?" "distal motor neuropathy, muscle wasting" "3y" "" "" "" "" "" "" "" "" "" "" "0000072682" "00289" "00094290" "01500" "Familial, autosomal dominant" "?" "distal motor neuropathy, muscle wasting" "3y" "" "" "" "" "" "" "" "" "" "" "0000072683" "00289" "00094291" "01500" "Familial, autosomal dominant" "?" "distal motor neuropathy, muscle wasting" "3y" "" "" "" "" "" "" "" "" "" "" "0000072684" "00289" "00094292" "01500" "Familial, autosomal dominant" "?" "none" "4y" "" "" "" "" "" "" "" "" "" "" "0000072685" "00289" "00094293" "01500" "Familial, autosomal dominant" "?" "none" "4y" "" "" "" "" "" "" "" "" "" "" "0000072686" "00289" "00094294" "01500" "Familial, autosomal dominant" "?" "none" "4y" "" "" "" "" "" "" "" "" "" "" "0000072687" "00289" "00094295" "01500" "Familial, autosomal dominant" "?" "none" "4y" "" "" "" "" "" "" "" "" "" "" "0000072688" "00289" "00094296" "01500" "Familial, autosomal dominant" "?" "none" "4y" "" "" "" "" "" "" "" "" "" "" "0000072689" "00289" "00094297" "01500" "Familial, autosomal dominant" "?" "none" "4y" "" "" "" "" "" "" "" "" "" "" "0000072690" "00289" "00094298" "01500" "Familial, autosomal dominant" "?" "none" "4y" "" "" "" "" "" "" "" "" "" "" "0000072691" "00289" "00094299" "01500" "Familial, autosomal dominant" "?" "none" "4y" "" "" "" "" "" "" "" "" "" "" "0000072692" "00289" "00094300" "01500" "Familial, autosomal dominant" "?" "unknown" "1y" "" "" "" "" "" "" "" "" "" "" "0000072693" "00289" "00094301" "01500" "Familial, autosomal dominant" "?" "mental retardation" "9y" "" "" "" "" "" "" "" "" "" "" "0000072694" "00289" "00094302" "01500" "Familial, autosomal dominant" "?" "mental retardation" "2y" "" "" "" "" "" "" "" "" "" "" "0000072695" "00289" "00094303" "01500" "Familial, autosomal dominant" "?" "unknown" "1y" "" "" "" "" "" "" "" "" "" "" "0000072696" "00289" "00094304" "01500" "Familial, autosomal dominant" "?" "none" "12y" "" "" "" "" "" "" "" "" "" "" "0000072697" "00289" "00094305" "01500" "Isolated (sporadic)" "?" "none" "12y" "" "" "" "" "" "" "" "" "" "" "0000072698" "00289" "00094306" "01500" "Familial, autosomal dominant" "?" "distal sensory neuropathy" "?" "" "" "" "" "" "" "" "" "" "" "0000072699" "00289" "00094307" "01500" "Familial, autosomal dominant" "?" "distal sensory neuropathy" "?" "" "" "" "" "" "" "" "" "" "" "0000072700" "00289" "00094308" "01500" "Familial, autosomal dominant" "?" "distal sensory neuropathy" "?" "" "" "" "" "" "" "" "" "" "" "0000072701" "00289" "00094309" "01500" "Familial, autosomal dominant" "?" "distal sensory neuropathy" "?" "" "" "" "" "" "" "" "" "" "" "0000072702" "00289" "00094310" "01500" "Familial, autosomal dominant" "?" "distal sensory neuropathy, upper limb involvement" "?" "" "" "" "" "" "" "" "" "" "" "0000072703" "00289" "00094311" "01500" "Familial, autosomal dominant" "?" "distal sensory neuropathy, upper limb involvement, muscle wasting" "?" "" "" "" "" "" "" "" "" "" "" "0000072704" "00289" "00094312" "01500" "Familial, autosomal dominant" "?" "upper limb involvement" "?" "" "" "" "" "" "" "" "" "" "" "0000072705" "00289" "00094313" "01500" "Familial, autosomal dominant" "?" "distal sensory neuropathy, upper limb involvement, muscle wasting" "?" "" "" "" "" "" "" "" "" "" "" "0000072706" "00289" "00094314" "01500" "Familial, autosomal dominant" "?" "distal sensory neuropathy, muscle wasting" "?" "" "" "" "" "" "" "" "" "" "" "0000072707" "00289" "00094315" "01500" "Familial, autosomal dominant" "?" "distal sensory neuropathy, upper limb involvement" "?" "" "" "" "" "" "" "" "" "" "" "0000072708" "00289" "00094316" "01500" "Familial, autosomal dominant" "?" "upper limb involvement" "?" "" "" "" "" "" "" "" "" "" "" "0000072709" "00289" "00094317" "01500" "Familial, autosomal dominant" "23y" "upper limb involvement" "<23y" "" "" "" "" "" "" "" "" "" "" "0000072710" "00289" "00094318" "01500" "Familial, autosomal dominant" "?" "distal sensorimotor neuropathy, foot ulcerations, lack of pain perception" "?" "" "" "" "" "" "" "" "" "" "" "0000072711" "00289" "00094319" "01500" "Familial, autosomal dominant" "?" "distal sensorimotor neuropathy, foot ulcerations, lack of pain perception" ">18y" "" "" "" "" "" "" "" "" "" "" "0000072712" "00289" "00094320" "01500" "Familial, autosomal dominant" "?" "mild distal sensory neuropathy" "?" "" "" "" "" "" "" "" "" "" "" "0000072713" "00289" "00094321" "01500" "Familial, autosomal dominant" "61y" "mild distal sensory neuropathy" "<61y" "" "" "" "" "" "" "" "" "" "" "0000072714" "00289" "00094322" "01500" "Familial, autosomal dominant" "?" "age onset 2-50y; upper limb involvement" "" "" "" "" "" "" "" "" "" "" "" "0000072715" "00289" "00094323" "01500" "Familial, autosomal dominant" "?" "age onset 2-50y; upper limb involvement" "" "" "" "" "" "" "" "" "" "" "" "0000072716" "00289" "00094324" "01500" "Familial, autosomal dominant" "?" "age onset 2-50y; upper limb involvement" "" "" "" "" "" "" "" "" "" "" "" "0000072717" "00289" "00094325" "01500" "Familial, autosomal dominant" "?" "age onset 2-50y; upper limb involvement" "" "" "" "" "" "" "" "" "" "" "" "0000072718" "00289" "00094326" "01500" "Familial, autosomal dominant" "?" "age onset 2-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072719" "00289" "00094327" "01500" "Familial, autosomal dominant" "?" "age onset 2-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072720" "00289" "00094328" "01500" "Familial, autosomal dominant" "?" "age onset 2-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072721" "00289" "00094329" "01500" "Familial, autosomal dominant" "?" "age onset 2-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072722" "00289" "00094330" "01500" "Familial, autosomal dominant" "?" "age onset 2-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072723" "00289" "00094331" "01500" "Familial, autosomal dominant" "?" "age onset 2-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072724" "00289" "00094332" "01500" "Familial, autosomal dominant" "?" "age onset 2-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072725" "00289" "00094333" "01500" "Familial, autosomal dominant" "?" "age onset 2-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072726" "00289" "00094334" "01500" "Familial, autosomal dominant" "?" "age onset 2-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072727" "00289" "00094335" "01500" "Familial, autosomal dominant" "?" "age onset 2-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072728" "00289" "00094336" "01500" "Familial, autosomal dominant" "?" "age onset 2-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072729" "00289" "00094337" "01500" "Familial, autosomal dominant" "?" "age onset 2-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072730" "00289" "00094338" "01500" "Familial, autosomal dominant" "?" "age onset 2-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072731" "00289" "00094339" "01500" "Familial, autosomal dominant" "?" "age onset 2-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072732" "00289" "00094340" "01500" "Familial, autosomal dominant" "?" "age onset 2-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072733" "00289" "00094341" "01500" "Familial, autosomal dominant" "?" "age onset 2-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072734" "00289" "00094342" "01500" "Familial, autosomal dominant" "?" "age onset 2-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072735" "00289" "00094343" "01500" "Familial, autosomal dominant" "?" "age onset 2-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072736" "00289" "00094344" "01500" "Familial, autosomal dominant" "?" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000072737" "00289" "00094345" "01500" "Familial, autosomal dominant" "?" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000072738" "00289" "00094346" "01500" "Familial, autosomal dominant" "?" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000072739" "00289" "00094347" "01500" "Familial, autosomal dominant" "?" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000072740" "00289" "00094348" "01500" "Familial, autosomal dominant" "?" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000072741" "00289" "00094349" "01500" "Familial, autosomal dominant" "?" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000072742" "00289" "00094350" "01500" "Familial, autosomal dominant" "?" "age onset 1-33y; urinary symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000072743" "00289" "00094351" "01500" "Familial, autosomal dominant" "?" "age onset 1-33y; urinary symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000072744" "00289" "00094352" "01500" "Familial, autosomal dominant" "?" "age onset 1-33y; urinary symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000072745" "00289" "00094353" "01500" "Familial, autosomal dominant" "?" "age onset 1-33y" "" "" "" "" "" "" "" "" "" "" "" "0000072746" "00289" "00094354" "01500" "Familial, autosomal dominant" "?" "age onset 1-33y" "" "" "" "" "" "" "" "" "" "" "" "0000072747" "00289" "00094355" "01500" "Familial, autosomal dominant" "?" "age onset 1-33y" "" "" "" "" "" "" "" "" "" "" "" "0000072748" "00289" "00094356" "01500" "Familial, autosomal dominant" "?" "age onset 1-33y" "" "" "" "" "" "" "" "" "" "" "" "0000072749" "00289" "00094357" "01500" "Familial, autosomal dominant" "?" "age onset 1-33y" "" "" "" "" "" "" "" "" "" "" "" "0000072750" "00289" "00094358" "01500" "Familial, autosomal dominant" "?" "age onset 1-33y" "" "" "" "" "" "" "" "" "" "" "" "0000072751" "00289" "00094359" "01500" "Familial, autosomal dominant" "?" "age onset 1-33y" "" "" "" "" "" "" "" "" "" "" "" "0000072752" "00289" "00094360" "01500" "Familial, autosomal dominant" "?" "age onset 1-33y" "" "" "" "" "" "" "" "" "" "" "" "0000072753" "00289" "00094361" "01500" "Familial, autosomal dominant" "?" "none" "<18y" "" "" "" "" "" "" "" "" "" "" "0000072754" "00289" "00094362" "01500" "Familial, autosomal dominant" "?" "none" "<18y" "" "" "" "" "" "" "" "" "" "" "0000072755" "00289" "00094363" "01500" "Familial, autosomal dominant" "?" "none" "<18y" "" "" "" "" "" "" "" "" "" "" "0000072756" "00289" "00094364" "01500" "Familial, autosomal dominant" "?" "none" "<18y" "" "" "" "" "" "" "" "" "" "" "0000072757" "00289" "00094365" "01500" "Familial, autosomal dominant" "?" "age onset 45-55y; urinary symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000072758" "00289" "00094366" "01500" "Familial, autosomal dominant" "?" "age onset 45-55y" "" "" "" "" "" "" "" "" "" "" "" "0000072759" "00289" "00094367" "01500" "Familial, autosomal dominant" "?" "age onset 45-55y" "" "" "" "" "" "" "" "" "" "" "" "0000072760" "00289" "00094368" "01500" "Familial, autosomal dominant" "?" "age onset 3-29y" "" "" "" "" "" "" "" "" "" "" "" "0000072761" "00289" "00094369" "01500" "Familial, autosomal dominant" "?" "age onset 3-29y" "" "" "" "" "" "" "" "" "" "" "" "0000072762" "00289" "00094370" "01500" "Familial, autosomal dominant" "?" "age onset 3-29y" "" "" "" "" "" "" "" "" "" "" "" "0000072763" "00289" "00094371" "01500" "Familial, autosomal dominant" "?" "age onset 3-29y" "" "" "" "" "" "" "" "" "" "" "" "0000072764" "00289" "00094372" "01500" "Familial, autosomal dominant" "?" "age onset 3-29y" "" "" "" "" "" "" "" "" "" "" "" "0000072765" "00289" "00094373" "01500" "Familial, autosomal dominant" "?" "age onset 3-29y" "" "" "" "" "" "" "" "" "" "" "" "0000072766" "00289" "00094374" "01500" "Familial, autosomal dominant" "?" "age onset 3-29y" "" "" "" "" "" "" "" "" "" "" "" "0000072767" "00289" "00094375" "01500" "Familial, autosomal dominant" "?" "age onset 3-29y" "" "" "" "" "" "" "" "" "" "" "" "0000072768" "00289" "00094376" "01500" "Familial, autosomal dominant" "?" "age onset 3-29y" "" "" "" "" "" "" "" "" "" "" "" "0000072769" "00289" "00094377" "01500" "Familial, autosomal dominant" "?" "age onset 3-29y" "" "" "" "" "" "" "" "" "" "" "" "0000072770" "00289" "00094378" "01500" "Familial, autosomal dominant" "?" "age onset 3-29y" "" "" "" "" "" "" "" "" "" "" "" "0000072771" "00289" "00094379" "01500" "Familial, autosomal dominant" "?" "urinary symptoms" "3y" "" "" "" "" "" "" "" "" "" "" "0000072772" "00289" "00094380" "01500" "Familial, autosomal dominant" "?" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000072773" "00289" "00094381" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072774" "00289" "00094382" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072775" "00289" "00094383" "01500" "Familial, autosomal dominant" "?" "none" "<9y" "" "" "" "" "" "" "" "" "" "" "0000072776" "00289" "00094384" "01500" "Familial, autosomal dominant" "?" "age onset 1y3m-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072777" "00289" "00094385" "01500" "Familial, autosomal dominant" "?" "age onset 1y3m-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072778" "00289" "00094386" "01500" "Familial, autosomal dominant" "?" "age onset 1y3m-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072779" "00289" "00094387" "01500" "Familial, autosomal dominant" "?" "age onset 1y3m-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072780" "00289" "00094388" "01500" "Familial, autosomal dominant" "?" "age onset 1y3m-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072781" "00289" "00094389" "01500" "Familial, autosomal dominant" "?" "age onset 1y3m-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072782" "00289" "00094390" "01500" "Familial, autosomal dominant" "?" "age onset 1y3m-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072783" "00289" "00094391" "01500" "Familial, autosomal dominant" "?" "age onset 1y3m-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072784" "00289" "00094392" "01500" "Familial, autosomal dominant" "?" "age onset 1y3m-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072785" "00289" "00094393" "01500" "Familial, autosomal dominant" "?" "age onset 1y3m-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072786" "00289" "00094394" "01500" "Familial, autosomal dominant" "?" "age onset 1y3m-50y" "" "" "" "" "" "" "" "" "" "" "" "0000072787" "00289" "00094395" "01500" "Familial, autosomal dominant" "?" "age onset 5-39y" "" "" "" "" "" "" "" "" "" "" "" "0000072788" "00289" "00094396" "01500" "Familial, autosomal dominant" "?" "age onset 5-39y" "" "" "" "" "" "" "" "" "" "" "" "0000072789" "00289" "00094397" "01500" "Familial, autosomal dominant" "?" "age onset 5-39y" "" "" "" "" "" "" "" "" "" "" "" "0000072790" "00289" "00094398" "01500" "Familial, autosomal dominant" "?" "age onset 5-39y" "" "" "" "" "" "" "" "" "" "" "" "0000072791" "00289" "00094399" "01500" "Familial, autosomal dominant" "?" "age onset 5-39y" "" "" "" "" "" "" "" "" "" "" "" "0000072792" "00289" "00094400" "01500" "Familial, autosomal dominant" "?" "age onset 5-39y" "" "" "" "" "" "" "" "" "" "" "" "0000072793" "00289" "00094401" "01500" "Familial, autosomal dominant" "?" "age onset 5-39y" "" "" "" "" "" "" "" "" "" "" "" "0000072794" "00289" "00094402" "01500" "Familial, autosomal dominant" "?" "age onset 5-39y" "" "" "" "" "" "" "" "" "" "" "" "0000072795" "00289" "00094403" "01500" "Familial, autosomal dominant" "?" "age onset 5-39y" "" "" "" "" "" "" "" "" "" "" "" "0000072796" "00289" "00094404" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072797" "00289" "00094405" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072798" "00289" "00094406" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072799" "00289" "00094407" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072800" "00289" "00094408" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072801" "00289" "00094409" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072802" "00289" "00094410" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072803" "00289" "00094411" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072804" "00289" "00094412" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072805" "00289" "00094413" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072806" "00289" "00094414" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072807" "00289" "00094415" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072808" "00289" "00094416" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072809" "00289" "00094417" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072810" "00289" "00094418" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072811" "00289" "00094419" "01500" "Familial, autosomal dominant" "?" "none" "8y" "" "" "" "" "" "" "" "" "" "" "0000072812" "00289" "00094420" "01500" "Familial, autosomal dominant" "?" "none" "4y" "" "" "" "" "" "" "" "" "" "" "0000072813" "00289" "00094421" "01500" "Familial, autosomal dominant" "?" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000072814" "00289" "00094422" "01500" "Familial, autosomal dominant" "?" "none" "5y" "" "" "" "" "" "" "" "" "" "" "0000072815" "00289" "00094423" "01500" "Familial, autosomal dominant" "?" "unknown" "16y" "" "" "" "" "" "" "" "" "" "" "0000072816" "00289" "00094424" "01500" "Familial, autosomal dominant" "?" "none" "5y" "" "" "" "" "" "" "" "" "" "" "0000072817" "00289" "00094425" "01500" "Familial, autosomal dominant" "?" "none" "1y" "" "" "" "" "" "" "" "" "" "" "0000072818" "00289" "00094426" "01500" "Familial, autosomal dominant" "?" "none" "2y" "" "" "" "" "" "" "" "" "" "" "0000072819" "00289" "00094427" "01500" "Familial, autosomal dominant" "?" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072820" "00289" "00094428" "01500" "Familial, autosomal dominant" "?" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072821" "00289" "00094429" "01500" "Familial, autosomal dominant" "63y" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072822" "00289" "00094430" "01500" "Familial, autosomal dominant" "60y" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072823" "00289" "00094431" "01500" "Familial, autosomal dominant" "?" "none" "<63y" "" "" "" "" "" "" "" "" "" "" "0000072824" "00289" "00094432" "01500" "Familial, autosomal dominant" "45y" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000072825" "00289" "00094433" "01500" "Familial, autosomal dominant" "?" "none" "<45y" "" "" "" "" "" "" "" "" "" "" "0000072826" "00289" "00094434" "01500" "Familial, autosomal dominant" "?" "none" "<45y" "" "" "" "" "" "" "" "" "" "" "0000072827" "00289" "00094435" "01500" "Familial, autosomal dominant" "?" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072828" "00289" "00094436" "01500" "Familial, autosomal dominant" "?" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072829" "00289" "00094437" "01500" "Familial, autosomal dominant" "?" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072830" "00289" "00094438" "01500" "Familial, autosomal dominant" "?" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072831" "00289" "00094439" "01500" "Familial, autosomal dominant" "?" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072832" "00289" "00094440" "01500" "Familial, autosomal dominant" "?" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072833" "00289" "00094441" "01500" "Familial, autosomal dominant" "?" "distal sensory neuropathy" "6y" "" "" "" "" "" "" "" "" "" "" "0000072834" "00289" "00094442" "01500" "Familial, autosomal dominant" "?" "none" "10y" "" "" "" "" "" "" "" "" "" "" "0000072835" "00289" "00094443" "01500" "Familial, autosomal dominant" "?" "none" "17y" "" "" "" "" "" "" "" "" "" "" "0000072836" "00289" "00094444" "01500" "Familial, autosomal dominant" "61y" "pes cavus" "<5y" "" "" "" "" "" "" "" "" "" "" "0000072837" "00289" "00094445" "01500" "Familial, autosomal dominant" "<61y" "pes cavus" "<5y" "" "" "" "" "" "" "" "" "" "" "0000072838" "00289" "00094446" "01500" "Familial, autosomal dominant" "<61y" "pes cavus" "<5y" "" "" "" "" "" "" "" "" "" "" "0000072839" "00289" "00094447" "01500" "Familial, autosomal dominant" "5y" "pes cavus" "<5y" "" "" "" "" "" "" "" "" "" "" "0000072840" "00289" "00094448" "01500" "Familial, autosomal dominant" "<12y" "pes cavus" "<5y" "" "" "" "" "" "" "" "" "" "" "0000072841" "00289" "00094449" "01500" "Familial, autosomal dominant" "<12y" "pes cavus" "<5y" "" "" "" "" "" "" "" "" "" "" "0000072842" "00289" "00094450" "01500" "Familial, autosomal dominant" "34y" "none" "<5y" "" "" "" "" "" "" "" "" "" "" "0000072843" "00289" "00094451" "01500" "Familial, autosomal dominant" "8y" "none" "1y" "" "" "" "" "" "" "" "" "" "" "0000072844" "00289" "00094452" "01500" "Familial, autosomal dominant" "?" "unknown" "<1y" "" "" "" "" "" "" "" "" "" "" "0000072845" "00289" "00094453" "01500" "Familial, autosomal dominant" "?" "age onset 3-4y" "" "" "" "" "" "" "" "" "" "" "" "0000072846" "00289" "00094454" "01500" "Familial, autosomal dominant" "8y" "unknown" "1y" "" "" "" "" "" "" "" "" "" "" "0000072847" "00289" "00094455" "01500" "Familial, autosomal dominant" "53y" "urinary symptoms" "<15y" "" "" "" "" "" "" "" "" "" "" "0000072848" "00289" "00094456" "01500" "Familial, autosomal dominant" "?" "supinated feet" "3y" "" "" "" "" "" "" "" "" "" "" "0000072849" "00289" "00094457" "01500" "Familial, autosomal dominant" "?" "unknown" "<15y" "" "" "" "" "" "" "" "" "" "" "0000072850" "00289" "00094458" "01500" "Familial, autosomal dominant" "?" "learning difficulties" "<15y" "" "" "" "" "" "" "" "" "" "" "0000072851" "00289" "00094459" "01500" "Familial, autosomal dominant" "38y" "unknown" "<15y" "" "" "" "" "" "" "" "" "" "" "0000072852" "00289" "00094460" "01500" "Familial, autosomal dominant" "?" "learning difficulties, supinated feet" "<15y" "" "" "" "" "" "" "" "" "" "" "0000072853" "00289" "00094461" "01500" "Familial, autosomal dominant" "?" "unknown" ">50y" "" "" "" "" "" "" "" "" "" "" "0000072854" "00289" "00094462" "01500" "Familial, autosomal dominant" "?" "reduced vibration sense, mild bladder disturbance" "55y" "" "" "" "" "" "" "" "" "" "" "0000072855" "00289" "00094463" "01500" "Familial, autosomal dominant" "?" "unknown" "45y" "" "" "" "" "" "" "" "" "" "" "0000072856" "00289" "00094464" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072857" "00289" "00094465" "01500" "Familial, autosomal dominant" "37y" "supinated feet" "3y" "" "" "" "" "" "" "" "" "" "" "0000072858" "00289" "00094466" "01500" "Familial, autosomal dominant" "5y" "supinated feet" "3y" "" "" "" "" "" "" "" "" "" "" "0000072859" "00289" "00094467" "01500" "Familial, autosomal dominant" "71y" "pes cavus, urinary symptoms" "6y" "" "" "" "" "" "" "" "" "" "" "0000072860" "00289" "00094468" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072861" "00289" "00094469" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072862" "00289" "00094470" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072863" "00289" "00094471" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072864" "00289" "00094472" "01500" "Familial, autosomal dominant" "34y" "urinary symptoms" "4y" "" "" "" "" "" "" "" "" "" "" "0000072865" "00289" "00094473" "01500" "Familial, autosomal dominant" "55y" "urinary symptoms" "2y" "" "" "" "" "" "" "" "" "" "" "0000072866" "00289" "00094474" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072867" "00289" "00094475" "01500" "Familial, autosomal dominant" "?" "optic atrophy, muscle wasting" "?" "" "" "" "" "" "" "" "" "" "" "0000072868" "00289" "00094476" "01500" "Familial, autosomal dominant" "9y" "urinary symptoms" "4y" "" "" "" "" "" "" "" "" "" "" "0000072869" "00289" "00094477" "01500" "Familial, autosomal dominant" "73y" "writer\'s cramp" "25y" "" "" "" "" "" "" "" "" "" "" "0000072870" "00289" "00094478" "01500" "Familial, autosomal dominant" "?" "age onset 6-60y" "" "" "" "" "" "" "" "" "" "" "" "0000072871" "00289" "00094479" "01500" "Familial, autosomal dominant" "?" "age onset 6-60y" "" "" "" "" "" "" "" "" "" "" "" "0000072872" "00289" "00094480" "01500" "Familial, autosomal dominant" "?" "age onset 6-60y" "" "" "" "" "" "" "" "" "" "" "" "0000072873" "00289" "00094481" "01500" "Familial, autosomal dominant" "?" "age onset 6-60y" "" "" "" "" "" "" "" "" "" "" "" "0000072874" "00289" "00094482" "01500" "Familial, autosomal dominant" "?" "age onset 6-60y" "" "" "" "" "" "" "" "" "" "" "" "0000072875" "00289" "00094483" "01500" "Familial, autosomal dominant" "?" "age onset 6-60y" "" "" "" "" "" "" "" "" "" "" "" "0000072876" "00289" "00094484" "01500" "Familial, autosomal dominant" "61y" "none" "<18y" "" "" "" "" "" "" "" "" "" "" "0000072877" "00289" "00094485" "01500" "Familial, autosomal dominant" "36y" "none" "<18y" "" "" "" "" "" "" "" "" "" "" "0000072878" "00289" "00094486" "01500" "Familial, autosomal dominant" "33y" "none" "<18y" "" "" "" "" "" "" "" "" "" "" "0000072879" "00289" "00094487" "01500" "Familial, autosomal dominant" "8y6m" "none" "1y" "" "" "" "" "" "" "" "" "" "" "0000072880" "00289" "00094488" "01500" "Familial, autosomal dominant" "4y6m" "none" "1y" "" "" "" "" "" "" "" "" "" "" "0000072881" "00289" "00094489" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072882" "00289" "00094490" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072883" "00289" "00094491" "01500" "Familial, autosomal dominant" "57y" "none" "28y" "" "" "" "" "" "" "" "" "" "" "0000072884" "00289" "00094492" "01500" "Familial, autosomal dominant" "42y" "none" "8y" "" "" "" "" "" "" "" "" "" "" "0000072885" "00289" "00094493" "01500" "Familial, autosomal dominant" "?" "unknown" "<42y" "" "" "" "" "" "" "" "" "" "" "0000072886" "00289" "00094494" "01500" "Familial, autosomal dominant" "34y" "pes cavus, hyperesthesia, distal sensorimotor neuropathy" "10y" "" "" "" "" "" "" "" "" "" "" "0000072887" "00289" "00094495" "01500" "Familial, autosomal dominant" "20y" "none" "10y" "" "" "" "" "" "" "" "" "" "" "0000072888" "00289" "00094496" "01500" "Familial, autosomal dominant" "12y" "unknown" "<12y" "" "" "" "" "" "" "" "" "" "" "0000072889" "00289" "00094497" "01500" "Familial, autosomal dominant" "63y" "decreased vibration sense, upper limb involvement" "1y" "" "" "" "" "" "" "" "" "" "" "0000072890" "00289" "00094498" "01500" "Familial, autosomal dominant" "34y" "none" "1y" "" "" "" "" "" "" "" "" "" "" "0000072891" "00289" "00094499" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000072892" "00289" "00094500" "01500" "Familial, autosomal dominant" "49y" "pes cavus, decreased vibration sense, hypesthesia, hypalgesia, distal sensorimotor neuropathy" "4y" "" "" "" "" "" "" "" "" "" "" "0000072893" "00289" "00094501" "01500" "Familial, autosomal dominant" "49y" "none" "1y6m" "" "" "" "" "" "" "" "" "" "" "0000072894" "00289" "00094502" "01500" "Familial, autosomal dominant" "25y" "none" "1y6m" "" "" "" "" "" "" "" "" "" "" "0000072895" "00289" "00094503" "01500" "Familial, autosomal dominant" "22y" "none" "1y" "" "" "" "" "" "" "" "" "" "" "0000072896" "00289" "00094504" "01500" "Familial, autosomal dominant" "41y" "upper limb involvement" "<18y" "" "" "" "" "" "" "" "" "" "" "0000072897" "00289" "00094505" "01500" "Familial, autosomal dominant" "3y" "unknown" "1y" "" "" "" "" "" "" "" "" "" "" "0000072898" "00289" "00094506" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000072899" "00289" "00094507" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000072900" "00289" "00094508" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000072901" "00289" "00094509" "01500" "Familial, autosomal dominant" "39y" "decreased vibration sense, sensorimotor neuropathy" "<18y" "" "" "" "" "" "" "" "" "" "" "0000072902" "00289" "00094510" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000072903" "00289" "00094511" "01500" "Familial, autosomal dominant" "69y" "none" "6y" "" "" "" "" "" "" "" "" "" "" "0000072904" "00289" "00094512" "01500" "Familial, autosomal dominant" "37y" "none" "5y" "" "" "" "" "" "" "" "" "" "" "0000072905" "00289" "00094513" "01500" "Familial, autosomal dominant" "39y" "none" "5y" "" "" "" "" "" "" "" "" "" "" "0000072906" "00289" "00094514" "01500" "Familial, autosomal dominant" "15y" "upper limb involvement" "2y" "" "" "" "" "" "" "" "" "" "" "0000072907" "00289" "00094515" "01500" "Familial, autosomal dominant" "12y" "upper limb involvement" "6y" "" "" "" "" "" "" "" "" "" "" "0000072908" "00289" "00094516" "01500" "Familial, autosomal dominant" "10y" "none" "5y" "" "" "" "" "" "" "" "" "" "" "0000072909" "00289" "00094517" "01500" "Isolated (sporadic)" "4y6m" "upper limb involvement, dysarthria, bradykinesia, growth retardation, distal sensorimotor neuropathy, muscle wasting" "6m" "" "" "" "" "" "" "" "" "" "" "0000072910" "00289" "00094518" "01500" "Familial, autosomal dominant" "63y" "pes cavus" "?" "" "" "" "" "" "" "" "" "" "" "0000072911" "00289" "00094519" "01500" "Familial, autosomal dominant" "40y" "pes cavus, decreased vibration sense, distal sensorimotor neuropathy" "2y" "" "" "" "" "" "" "" "" "" "" "0000072912" "00289" "00094520" "01500" "Familial, autosomal dominant" "29y" "pes cavus, distal motor neuropathy" "2y" "" "" "" "" "" "" "" "" "" "" "0000072913" "00289" "00094521" "01500" "Familial, autosomal dominant" "10y" "none" "2y" "" "" "" "" "" "" "" "" "" "" "0000072914" "00289" "00094522" "01500" "Familial, autosomal dominant" "63y" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000072915" "00289" "00094523" "01500" "Familial, autosomal dominant" "61y" "upper limb involvement" "9y" "" "" "" "" "" "" "" "" "" "" "0000072916" "00289" "00094524" "01500" "Familial, autosomal dominant" "32y" "upper limb involvement" "1y6m" "" "" "" "" "" "" "" "" "" "" "0000072917" "00289" "00094525" "01500" "Familial, autosomal dominant" "34y" "upper limb involvement, epilepsy" "3y" "" "" "" "" "" "" "" "" "" "" "0000072918" "00289" "00094526" "01500" "Familial, autosomal dominant" "12y" "upper limb involvement" "1y" "" "" "" "" "" "" "" "" "" "" "0000072919" "00289" "00094527" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000072920" "00289" "00094528" "01500" "Familial, autosomal dominant" "36y" "none" "1y" "" "" "" "" "" "" "" "" "" "" "0000072921" "00289" "00094529" "01500" "Familial, autosomal dominant" "7y" "none" "1y" "" "" "" "" "" "" "" "" "" "" "0000072922" "00289" "00094530" "01500" "Familial, autosomal dominant" "?" "none" "10y" "" "" "" "" "" "" "" "" "" "" "0000072923" "00289" "00094531" "01500" "Familial, autosomal dominant" "?" "none" "15y" "" "" "" "" "" "" "" "" "" "" "0000072924" "00289" "00094532" "01500" "Familial, autosomal dominant" "?" "none" "8y" "" "" "" "" "" "" "" "" "" "" "0000072925" "00289" "00094533" "01500" "Familial, autosomal dominant" "?" "ataxia" "36y" "" "" "" "" "" "" "" "" "" "" "0000072926" "00289" "00094534" "01500" "Familial, autosomal dominant" "?" "white matter changes in MRI, seizures" "35y" "" "" "" "" "" "" "" "" "" "" "0000072927" "00289" "00094535" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072928" "00289" "00094536" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072929" "00289" "00094537" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072930" "00289" "00094538" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072931" "00289" "00094539" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072932" "00289" "00094540" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072933" "00289" "00094541" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072934" "00289" "00094542" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072935" "00289" "00094543" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072936" "00289" "00094544" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072937" "00289" "00094545" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072938" "00289" "00094546" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072939" "00289" "00094547" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072940" "00289" "00094548" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072941" "00289" "00094549" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072942" "00289" "00094550" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072943" "00289" "00094551" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072944" "00289" "00094552" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072945" "00289" "00094553" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072946" "00289" "00094554" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072947" "00289" "00094555" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072948" "00289" "00094556" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072949" "00289" "00094557" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072950" "00289" "00094558" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072951" "00289" "00094559" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072952" "00289" "00094560" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072953" "00289" "00094561" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072954" "00289" "00094562" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072955" "00289" "00094563" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072956" "00289" "00094564" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072957" "00289" "00094565" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072958" "00289" "00094566" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072959" "00289" "00094567" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072960" "00289" "00094568" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072961" "00289" "00094569" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072962" "00289" "00094570" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072963" "00289" "00094571" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072964" "00289" "00094572" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072965" "00289" "00094573" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072966" "00289" "00094574" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072967" "00289" "00094575" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072968" "00289" "00094576" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072969" "00289" "00094577" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072970" "00289" "00094578" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072971" "00289" "00094579" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072972" "00289" "00094580" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072973" "00289" "00094581" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072974" "00289" "00094582" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072975" "00289" "00094583" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072976" "00289" "00094584" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072977" "00289" "00094585" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072978" "00289" "00094586" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072979" "00289" "00094587" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072980" "00289" "00094588" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072981" "00289" "00094589" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072982" "00289" "00094590" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072983" "00289" "00094591" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072984" "00289" "00094592" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072985" "00289" "00094593" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072986" "00289" "00094594" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072987" "00289" "00094595" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072988" "00289" "00094596" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072989" "00289" "00094597" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072990" "00289" "00094598" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072991" "00289" "00094599" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072992" "00289" "00094600" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072993" "00289" "00094601" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072994" "00289" "00094602" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072995" "00289" "00094603" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072996" "00289" "00094604" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072997" "00289" "00094605" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072998" "00289" "00094606" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000072999" "00289" "00094607" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073000" "00289" "00094608" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073001" "00289" "00094609" "01500" "Familial, autosomal dominant" "80y" "unknown" "<80y" "" "" "" "" "" "" "" "" "" "" "0000073002" "00289" "00094610" "01500" "Familial, autosomal dominant" "51y" "unknown" "<51y" "" "" "" "" "" "" "" "" "" "" "0000073003" "00289" "00094611" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073004" "00289" "00094612" "01500" "Familial, autosomal dominant" "38y" "unknown" "<38y" "" "" "" "" "" "" "" "" "" "" "0000073005" "00289" "00094613" "01500" "Familial, autosomal dominant" "28y" "unknown" "<18y" "" "" "" "" "" "" "" "" "" "" "0000073006" "00289" "00094614" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073007" "00289" "00094615" "01500" "Familial, autosomal dominant" "?" "unknown" "1y" "" "" "" "" "" "" "" "" "" "" "0000073008" "00289" "00094616" "01500" "Familial, autosomal dominant" "?" "unknown" "3y" "" "" "" "" "" "" "" "" "" "" "0000073009" "00289" "00094617" "01500" "Familial, autosomal dominant" "?" "unknown" "4y" "" "" "" "" "" "" "" "" "" "" "0000073010" "00289" "00094618" "01500" "Familial, autosomal dominant" "?" "unknown" "10y" "" "" "" "" "" "" "" "" "" "" "0000073011" "00289" "00094619" "01500" "Familial, autosomal dominant" "?" "unknown" "0y" "" "" "" "" "" "" "" "" "" "" "0000073012" "00289" "00094620" "01500" "Familial, autosomal dominant" "?" "unknown" "4y" "" "" "" "" "" "" "" "" "" "" "0000073013" "00289" "00094621" "01500" "Familial, autosomal dominant" "?" "unknown" "5y" "" "" "" "" "" "" "" "" "" "" "0000073014" "00289" "00094622" "01500" "Familial, autosomal dominant" "?" "unknown" "6y" "" "" "" "" "" "" "" "" "" "" "0000073015" "00289" "00094623" "01500" "Familial, autosomal dominant" "4y" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073016" "00289" "00094624" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073017" "00289" "00094625" "01500" "Familial, autosomal dominant" "?" "unknown" "6y" "" "" "" "" "" "" "" "" "" "" "0000073018" "00289" "00094626" "01500" "Familial, autosomal dominant" "?" "unknown" "2y" "" "" "" "" "" "" "" "" "" "" "0000073019" "00289" "00094627" "01500" "Familial, autosomal dominant" "?" "unknown" "2y" "" "" "" "" "" "" "" "" "" "" "0000073020" "00289" "00094628" "01500" "Familial, autosomal dominant" "?" "unknown" "10y" "" "" "" "" "" "" "" "" "" "" "0000073021" "00289" "00094629" "01500" "Familial, autosomal dominant" "53y" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073022" "00289" "00094630" "01500" "Familial, autosomal dominant" "?" "unknown" "2y" "" "" "" "" "" "" "" "" "" "" "0000073023" "00289" "00094631" "01500" "Familial, autosomal dominant" "50y" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073024" "00289" "00094632" "01500" "Familial, autosomal dominant" "?" "unknown" "0y" "" "" "" "" "" "" "" "" "" "" "0000073025" "00289" "00094633" "01500" "Familial, autosomal dominant" "?" "unknown" "2y" "" "" "" "" "" "" "" "" "" "" "0000073026" "00289" "00094634" "01500" "Familial, autosomal dominant" "?" "unknown" "6y" "" "" "" "" "" "" "" "" "" "" "0000073027" "00289" "00094635" "01500" "Familial, autosomal dominant" "?" "unknown" "1y" "" "" "" "" "" "" "" "" "" "" "0000073028" "00289" "00094636" "01500" "Familial, autosomal dominant" "71y" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073029" "00289" "00094637" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073030" "00289" "00094638" "01500" "Familial, autosomal dominant" "46y" "unknown" "2y" "" "" "" "" "" "" "" "" "" "" "0000073031" "00289" "00094639" "01500" "Familial, autosomal dominant" "20y" "unknown" "12y" "" "" "" "" "" "" "" "" "" "" "0000073032" "00289" "00094640" "01500" "Familial, autosomal dominant" "18y" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073033" "00289" "00094641" "01500" "Familial, autosomal dominant" "?" "unknown" "6y" "" "" "" "" "" "" "" "" "" "" "0000073034" "00289" "00094642" "01500" "Familial, autosomal dominant" "?" "unknown" "8y" "" "" "" "" "" "" "" "" "" "" "0000073035" "00289" "00094643" "01500" "Familial, autosomal dominant" "?" "unknown" "8y" "" "" "" "" "" "" "" "" "" "" "0000073036" "00289" "00094644" "01500" "Familial, autosomal dominant" "?" "unknown" "1y6m" "" "" "" "" "" "" "" "" "" "" "0000073037" "00289" "00094645" "01500" "Familial, autosomal dominant" "?" "unknown" "6y" "" "" "" "" "" "" "" "" "" "" "0000073038" "00289" "00094646" "01500" "Familial, autosomal dominant" "?" "unknown" "10y" "" "" "" "" "" "" "" "" "" "" "0000073039" "00289" "00094647" "01500" "Familial, autosomal dominant" "?" "unknown" "14y" "" "" "" "" "" "" "" "" "" "" "0000073040" "00289" "00094648" "01500" "Familial, autosomal dominant" "34y" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073041" "00289" "00094649" "01500" "Familial, autosomal dominant" "?" "unknown" "0y" "" "" "" "" "" "" "" "" "" "" "0000073042" "00289" "00094650" "01500" "Familial, autosomal dominant" "?" "unknown" "0y" "" "" "" "" "" "" "" "" "" "" "0000073043" "00289" "00094651" "01500" "Familial, autosomal dominant" "?" "unknown" "10y" "" "" "" "" "" "" "" "" "" "" "0000073044" "00289" "00094652" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073045" "00289" "00094653" "01500" "Familial, autosomal dominant" "?" "cerebral palsy, distal motor neuropathy, muscle wasting" "6m" "" "" "" "" "" "" "" "" "" "" "0000073046" "00289" "00094654" "01500" "Familial, autosomal dominant" "?" "unknown" "40y" "" "" "" "" "" "" "" "" "" "" "0000073047" "00289" "00094655" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073048" "00289" "00094656" "01500" "Familial, autosomal dominant" "55y" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073049" "00289" "00094657" "01500" "Familial, autosomal dominant" "<50y" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073050" "00289" "00094658" "01500" "Familial, autosomal dominant" "?" "unknown" "<50y" "" "" "" "" "" "" "" "" "" "" "0000073051" "00289" "00094659" "01500" "Familial, autosomal dominant" "?" "unknown" "<50y" "" "" "" "" "" "" "" "" "" "" "0000073052" "00289" "00094660" "01500" "Familial, autosomal dominant" "<50y" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073053" "00289" "00094661" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073054" "00289" "00094662" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073055" "00289" "00094663" "01500" "Familial, autosomal dominant" "?" "unknown" "11y" "" "" "" "" "" "" "" "" "" "" "0000073056" "00289" "00094664" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073057" "00289" "00094665" "01500" "Isolated (sporadic)" "17y" "pes cavus, lower limb distal amyotrophy, swallowing and chewing difficulties, cognitive impairment, absent speech, upper limb involvement, distal sensorimotor neuropathy" "3m" "" "" "" "" "" "" "" "" "" "" "0000073058" "00289" "00094666" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073059" "00289" "00094667" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073060" "00289" "00094668" "01500" "Familial, autosomal dominant" "56y" "upper limb involvement" "4y" "" "" "" "" "" "" "" "" "" "" "0000073061" "00289" "00094669" "01500" "Familial, autosomal dominant" "54y" "unknown" "3y" "" "" "" "" "" "" "" "" "" "" "0000073062" "00289" "00094670" "01500" "Familial, autosomal dominant" "52y" "unknown" "6y" "" "" "" "" "" "" "" "" "" "" "0000073063" "00289" "00094671" "01500" "Familial, autosomal dominant" "49y" "unknown" "1y" "" "" "" "" "" "" "" "" "" "" "0000073064" "00289" "00094672" "01500" "Familial, autosomal dominant" "30y" "unknown" "2y" "" "" "" "" "" "" "" "" "" "" "0000073065" "00289" "00094673" "01500" "Familial, autosomal dominant" "26y" "unknown" "5y" "" "" "" "" "" "" "" "" "" "" "0000073066" "00289" "00094674" "01500" "Familial, autosomal dominant" "21y" "unknown" "4y" "" "" "" "" "" "" "" "" "" "" "0000073067" "00289" "00094675" "01500" "Familial, autosomal dominant" "23y" "unknown" "5y" "" "" "" "" "" "" "" "" "" "" "0000073068" "00289" "00094676" "01500" "Familial, autosomal dominant" "18y" "unknown" "4y" "" "" "" "" "" "" "" "" "" "" "0000073069" "00289" "00094677" "01500" "Familial, autosomal dominant" "6y" "unknown" "1y" "" "" "" "" "" "" "" "" "" "" "0000073070" "00289" "00094678" "01500" "Familial, autosomal dominant" "55y" "pes cavus, facial figures" "0y" "" "" "" "" "" "" "" "" "" "" "0000073071" "00289" "00094679" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073072" "00289" "00094680" "01500" "Familial, autosomal dominant" "35y" "pes cavus, facial figures" "0y" "" "" "" "" "" "" "" "" "" "" "0000073073" "00289" "00094681" "01500" "Familial, autosomal dominant" "33y" "pes cavus, facial figures" "0y" "" "" "" "" "" "" "" "" "" "" "0000073074" "00289" "00094682" "01500" "Familial, autosomal dominant" "31y" "pes cavus, facial figures" "0y" "" "" "" "" "" "" "" "" "" "" "0000073075" "00289" "00094683" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073076" "00289" "00094684" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073077" "00289" "00094685" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073078" "00289" "00094686" "01500" "Familial, autosomal dominant" "12y" "pes cavus, facial figures" "12y" "" "" "" "" "" "" "" "" "" "" "0000073079" "00289" "00094687" "01500" "Familial, autosomal dominant" "5y" "pes cavus, facial figures" "5y" "" "" "" "" "" "" "" "" "" "" "0000073080" "00289" "00094688" "01500" "Isolated (sporadic)" "50y" "urinary symptoms" "<5y" "" "" "" "" "" "" "" "" "" "" "0000073081" "00289" "00094689" "01500" "Familial, autosomal dominant" "17y" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000073082" "00289" "00094690" "01500" "Isolated (sporadic)" "3y" "none" "<3y" "" "" "" "" "" "" "" "" "" "" "0000073083" "00289" "00094691" "01500" "Isolated (sporadic)" "15y" "distal sensorimotor neuropathy" "<5y" "" "" "" "" "" "" "" "" "" "" "0000073084" "00289" "00094692" "01500" "Familial, autosomal dominant" "?" "none" "<6y" "" "" "" "" "" "" "" "" "" "" "0000073085" "00289" "00094693" "01500" "Familial, autosomal dominant" "?" "flat feet" "<6y" "" "" "" "" "" "" "" "" "" "" "0000073086" "00289" "00094694" "01500" "Familial, autosomal dominant" "?" "flat feet" "<6y" "" "" "" "" "" "" "" "" "" "" "0000073087" "00289" "00094695" "01500" "Familial, autosomal dominant" "?" "none" "<6y" "" "" "" "" "" "" "" "" "" "" "0000073088" "00289" "00094696" "01500" "Familial, autosomal dominant" "?" "flat feet" "<6y" "" "" "" "" "" "" "" "" "" "" "0000073089" "00289" "00094697" "01500" "Familial, autosomal dominant" "?" "flat feet" "<6y" "" "" "" "" "" "" "" "" "" "" "0000073090" "00289" "00094698" "01500" "Familial, autosomal dominant" "?" "flat feet" "<6y" "" "" "" "" "" "" "" "" "" "" "0000073091" "00289" "00094699" "01500" "Familial, autosomal dominant" "?" "flat feet" "<6y" "" "" "" "" "" "" "" "" "" "" "0000073092" "00289" "00094700" "01500" "Familial, autosomal dominant" "?" "flat feet" "<6y" "" "" "" "" "" "" "" "" "" "" "0000073093" "00289" "00094701" "01500" "Familial, autosomal dominant" "?" "none" "<6y" "" "" "" "" "" "" "" "" "" "" "0000073094" "00289" "00094702" "01500" "Familial, autosomal dominant" "?" "none" "<6y" "" "" "" "" "" "" "" "" "" "" "0000073095" "00289" "00094703" "01500" "Familial, autosomal dominant" "?" "flat feet" "<6y" "" "" "" "" "" "" "" "" "" "" "0000073096" "00289" "00094704" "01500" "Familial, autosomal dominant" "?" "flat feet" "<6y" "" "" "" "" "" "" "" "" "" "" "0000073097" "00289" "00094705" "01500" "Familial, autosomal dominant" "?" "foot ulceration" "?" "" "" "" "" "" "" "" "" "" "" "0000073098" "00289" "00094706" "01500" "Familial, autosomal dominant" "70y" "painless ulcers, inflammation, upper limb involvement, hearing loss, distal sensorimotor neuropathy, muscle wasting" "25y" "" "" "" "" "" "" "" "" "" "" "0000073099" "00289" "00094707" "01500" "Familial, autosomal dominant" "?" "foot ulceration" "<70y" "" "" "" "" "" "" "" "" "" "" "0000073100" "00289" "00094708" "01500" "Familial, autosomal dominant" "71y" "feet ulcerations, muscle cramps in calves, distal motor neuropathy, muscle wasting" "27y" "" "" "" "" "" "" "" "" "" "" "0000073101" "00289" "00094709" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073102" "00289" "00094710" "01500" "Familial, autosomal dominant" "65y" "painless ulcers, upper limb involvement, meningoencephalitis, distal motor neuropathy, muscle wasting" "27y" "" "" "" "" "" "" "" "" "" "" "0000073103" "00289" "00094711" "01500" "Familial, autosomal dominant" "?" "unknown" "<65y" "" "" "" "" "" "" "" "" "" "" "0000073104" "00289" "00094712" "01500" "Familial, autosomal dominant" "43y" "upper limb involvement, painless ulcers, inflammation, charcot joints, hyperhydrosis, distal sensory neuropathy, muscle wasting" "18y" "" "" "" "" "" "" "" "" "" "" "0000073105" "00289" "00094713" "01500" "Familial, autosomal dominant" "38y" "painless and painfil ulcers, hyperpigmentation, muscle wasting" "37y" "" "" "" "" "" "" "" "" "" "" "0000073106" "00289" "00094714" "01500" "Familial, autosomal dominant" "36y" "painless ulcers, inflammation, charcot joints, hyperhydrosis, muscle wasting, distal sensory neuropathy" "20y" "" "" "" "" "" "" "" "" "" "" "0000073107" "00289" "00094715" "01500" "Familial, autosomal dominant" "39y" "painless ulcers, muscle cramps in calves, distal motor neuropathy, muscle wasting" "31y" "" "" "" "" "" "" "" "" "" "" "0000073108" "00289" "00094716" "01500" "Familial, autosomal dominant" "24y" "pes cavus, muscle wasting" "23y" "" "" "" "" "" "" "" "" "" "" "0000073109" "00289" "00094717" "01500" "Familial, autosomal dominant" "20y" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000073110" "00289" "00094718" "01500" "Familial, autosomal dominant" "18y" "muscle wasting" "1y" "" "" "" "" "" "" "" "" "" "" "0000073111" "00289" "00094719" "01500" "Isolated (sporadic)" "?" "none" "1y" "" "" "" "" "" "" "" "" "" "" "0000073112" "00289" "00094720" "01500" "Familial, autosomal dominant" "?" "none" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073113" "00289" "00094721" "01500" "Familial, autosomal dominant" "?" "none" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073114" "00289" "00094722" "01500" "Familial, autosomal dominant" "?" "none" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073115" "00289" "00094723" "01500" "Familial, autosomal dominant" "?" "none" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073116" "00289" "00094724" "01500" "Familial, autosomal dominant" "?" "none" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073117" "00289" "00094725" "01500" "Familial, autosomal dominant" "?" "none" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073118" "00289" "00094726" "01500" "Familial, autosomal dominant" "?" "none" "1y" "" "" "" "" "" "" "" "" "" "" "0000073119" "00289" "00094727" "01500" "Familial, autosomal dominant" "?" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000073120" "00289" "00094728" "01500" "Familial, autosomal dominant" "?" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000073121" "00289" "00094729" "01500" "Isolated (sporadic)" "12y" "hypertonia, hypokinesia, cerebral palsy, pseudobulbar palsy, dysarthria, dysphagia, dysmasesis, muscle wasting, distal sensorimotor neuopathy" "0y" "" "" "" "" "" "" "" "" "" "" "0000073122" "00289" "00094730" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073123" "00289" "00094731" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073124" "00289" "00094732" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073125" "00289" "00094733" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073126" "00289" "00094734" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073127" "00289" "00094735" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073128" "00289" "00094736" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073129" "00289" "00094737" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073130" "00289" "00094738" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073131" "00289" "00094739" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073132" "00289" "00094740" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073133" "00289" "00094741" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073134" "00289" "00094742" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073135" "00289" "00094743" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073136" "00289" "00094744" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073137" "00289" "00094745" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073138" "00289" "00094746" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073139" "00289" "00094747" "01500" "Familial, autosomal dominant" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073140" "00289" "00094748" "01500" "Familial, autosomal dominant" "17y" "unknown" "5y" "" "" "" "" "" "" "" "" "" "" "0000073141" "00289" "00094749" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073142" "00289" "00094750" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073143" "00289" "00094751" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073144" "00289" "00094752" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073145" "00289" "00094753" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073146" "00289" "00094754" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073147" "00289" "00094755" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073148" "00289" "00094756" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073149" "00289" "00094757" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073150" "00289" "00094758" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073151" "00289" "00094759" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073152" "00289" "00094760" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073153" "00289" "00094761" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073154" "00289" "00094762" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073155" "00289" "00094763" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073156" "00289" "00094764" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073157" "00289" "00094765" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073158" "00289" "00094766" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073159" "00289" "00094767" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073160" "00289" "00094768" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073161" "00289" "00094769" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073162" "00289" "00094770" "01500" "Familial, autosomal dominant" "43y" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073163" "00289" "00094771" "01500" "Familial, autosomal dominant" "39y" "unknown" "16y" "" "" "" "" "" "" "" "" "" "" "0000073164" "00289" "00094772" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073165" "00289" "00094773" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073166" "00289" "00094774" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073167" "00289" "00094775" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073168" "00289" "00094776" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073169" "00289" "00094777" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073170" "00289" "00094778" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073171" "00289" "00094779" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073172" "00289" "00094780" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073173" "00289" "00094781" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073174" "00289" "00094782" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073175" "00289" "00094783" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073176" "00289" "00094784" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073177" "00289" "00094785" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073178" "00289" "00094786" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073179" "00289" "00094787" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073180" "00289" "00094788" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073181" "00289" "00094789" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073182" "00289" "00094790" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073183" "00289" "00094791" "01500" "Familial, autosomal recessive" "21y" "upper limb involvement" "5y" "" "" "" "" "" "" "" "" "" "" "0000073184" "00289" "00094792" "01500" "Familial, autosomal recessive" "13y" "upper limb involvement" "5y" "" "" "" "" "" "" "" "" "" "" "0000073185" "00289" "00094793" "01500" "Familial, autosomal recessive" "10y" "subclinical signs" "?" "" "" "" "" "" "" "" "" "" "" "0000073186" "00289" "00094794" "01500" "Isolated (sporadic)" "4y" "cerebral palsy, pes cavus, distal motor neuropathy, muscle wasting" "<1y" "" "" "" "" "" "" "" "" "" "" "0000073187" "00289" "00094795" "01500" "Familial, autosomal dominant" "75y" "unknown" "<1y" "" "" "" "" "" "" "" "" "" "" "0000073188" "00289" "00094796" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073189" "00289" "00094797" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073190" "00289" "00094798" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073191" "00289" "00094799" "01500" "Familial, autosomal dominant" "51y" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073192" "00289" "00094800" "01500" "Familial, autosomal dominant" "55y" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073193" "00289" "00094801" "01500" "Familial, autosomal dominant" "63y" "unknown" "<1y" "" "" "" "" "" "" "" "" "" "" "0000073194" "00289" "00094802" "01500" "Familial, autosomal dominant" "56y" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073195" "00289" "00094803" "01500" "Familial, autosomal dominant" "49y" "none" "5y" "" "" "" "" "" "" "" "" "" "" "0000073196" "00289" "00094804" "01500" "Familial, autosomal dominant" "56y" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073197" "00289" "00094805" "01500" "Familial, autosomal dominant" "17y" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073198" "00289" "00094806" "01500" "Familial, autosomal dominant" "13y" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073199" "00289" "00094807" "01500" "Familial, autosomal dominant" "30y" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073200" "00289" "00094808" "01500" "Familial, autosomal dominant" "26y" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073201" "00289" "00094809" "01500" "Familial, autosomal dominant" "32y" "unknown" "4y" "" "" "" "" "" "" "" "" "" "" "0000073202" "00289" "00094810" "01500" "Familial, autosomal dominant" "22y" "unknown" "3y" "" "" "" "" "" "" "" "" "" "" "0000073203" "00289" "00094811" "01500" "Familial, autosomal dominant" "?" "age onset 1-50y" "" "" "" "" "" "" "" "" "" "" "" "0000073204" "00289" "00094812" "01500" "Familial, autosomal dominant" "?" "age onset 1-50y" "" "" "" "" "" "" "" "" "" "" "" "0000073205" "00289" "00094813" "01500" "Familial, autosomal dominant" "?" "none" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073206" "00289" "00094814" "01500" "Familial, autosomal dominant" "?" "none" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073207" "00289" "00094815" "01500" "Familial, autosomal dominant" "?" "age onset 2-6y" "" "" "" "" "" "" "" "" "" "" "" "0000073208" "00289" "00094816" "01500" "Familial, autosomal dominant" "?" "none" "<1y" "" "" "" "" "" "" "" "" "" "" "0000073209" "00289" "00094817" "01500" "Familial, autosomal dominant" "?" "none" "1y6m" "" "" "" "" "" "" "" "" "" "" "0000073210" "00289" "00094818" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073211" "00289" "00094819" "01500" "Familial, autosomal dominant" "39y" "upper limb involvement, parestesias, hypermetropia, muscle wasting" "<1y" "" "" "" "" "" "" "" "" "" "" "0000073212" "00289" "00094820" "01500" "Familial, autosomal dominant" "16y" "upper limb involvement, hypermetropia, muscle wasting" "<1y" "" "" "" "" "" "" "" "" "" "" "0000073213" "00289" "00094821" "01500" "Familial, autosomal dominant" "15y" "scoliosis" "2y" "" "" "" "" "" "" "" "" "" "" "0000073214" "00289" "00094822" "01500" "Familial, autosomal dominant" "6y" "none" "4y" "" "" "" "" "" "" "" "" "" "" "0000073215" "00289" "00094823" "01500" "Familial, autosomal dominant" "3y" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000073216" "00289" "00094824" "01500" "Familial, autosomal dominant" "1y" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000073217" "00289" "00094825" "01500" "Familial, autosomal dominant" "49y" "pes cavus" "?" "" "" "" "" "" "" "" "" "" "" "0000073218" "00289" "00094826" "01500" "Familial, autosomal dominant" "16y" "urinary symptoms" "<1y" "" "" "" "" "" "" "" "" "" "" "0000073219" "00289" "00094827" "01500" "Familial, autosomal dominant" "53y" "mild mental retardation, thin corpus callosum" "45y" "" "" "" "" "" "" "" "" "" "" "0000073220" "00289" "00094828" "01500" "Familial, autosomal dominant" "66y" "moderate mental retardation, thin corpus callosum, sphincter disturbances" "44y" "" "" "" "" "" "" "" "" "" "" "0000073221" "00289" "00094829" "01500" "Familial, autosomal dominant" "68y" "mild mental retardation, thin corpus callosum, urinary symptoms, sphincter incompetence" "56y" "" "" "" "" "" "" "" "" "" "" "0000073222" "00289" "00094830" "01500" "Familial, autosomal dominant" "56y" "mild mental retardation, thin corpus callosum" "51y" "" "" "" "" "" "" "" "" "" "" "0000073223" "00289" "00094831" "01500" "Familial, autosomal dominant" "51y" "mild mental retardation, thin corpus callosum" "42y" "" "" "" "" "" "" "" "" "" "" "0000073224" "00289" "00094832" "01500" "Familial, autosomal dominant" "56y" "mild mental retardation, thin corpus callosum, sphincter disturbances" "38y" "" "" "" "" "" "" "" "" "" "" "0000073225" "00289" "00094833" "01500" "Familial, autosomal dominant" "50y" "moderate mental retardation, thin corpus callosum" "48y" "" "" "" "" "" "" "" "" "" "" "0000073226" "00289" "00094834" "01500" "Familial, autosomal dominant" "51y" "mild mental retardation, thin corpus callosum" "46y" "" "" "" "" "" "" "" "" "" "" "0000073227" "00289" "00094835" "01500" "Familial, autosomal dominant" "55y" "severe mental retardation, thin corpus callosum" "39y" "" "" "" "" "" "" "" "" "" "" "0000073228" "00289" "00094836" "01500" "Familial, autosomal dominant" "49y" "mild mental retardation, thin corpus callosum" "41y" "" "" "" "" "" "" "" "" "" "" "0000073229" "00289" "00094837" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073230" "00289" "00094838" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073231" "00289" "00094839" "01500" "Familial, autosomal dominant" "52y" "none" "14y" "" "" "" "" "" "" "" "" "" "" "0000073232" "00289" "00094840" "01500" "Familial, autosomal dominant" "70y" "dyspnea, denervation, upper limb involvement, muscle wasting" "67y" "" "" "" "" "" "" "" "" "" "" "0000073233" "00289" "00094841" "01500" "Familial, autosomal dominant" "39y" "dysdiadochkinesia, mild vermis atrophy, hypometabolism in brain regions" "5y" "" "" "" "" "" "" "" "" "" "" "0000073234" "00289" "00094842" "01500" "Familial, autosomal dominant" "?" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000073235" "00289" "00094843" "01500" "Familial, autosomal dominant" "?" "none" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073236" "00289" "00094844" "01500" "Familial, autosomal dominant" "29y" "tumor-like nodule in left lateral ventricle" "3y" "" "" "" "" "" "" "" "" "" "" "0000073237" "00289" "00094845" "01500" "Familial, autosomal dominant" "45y" "erectile dysfunction, urinary symptoms, orthostatic intolerance, mild distal sensory neuropathy" "44y" "" "" "" "" "" "" "" "" "" "" "0000073238" "00289" "00094846" "01500" "Familial, autosomal dominant" "15y" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000073239" "00289" "00094847" "01500" "Familial, autosomal dominant" "17y" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000073240" "00289" "00094848" "01500" "Familial, autosomal dominant" "43y" "age onset 1-2y; upper limb involvement" "" "" "" "" "" "" "" "" "" "" "" "0000073241" "00289" "00094849" "01500" "Familial, autosomal dominant" "23y" "age onset 1-2y" "" "" "" "" "" "" "" "" "" "" "" "0000073242" "00289" "00094850" "01500" "Familial, autosomal dominant" "22y" "age onset 1-2y" "" "" "" "" "" "" "" "" "" "" "" "0000073243" "00289" "00094851" "01500" "Familial, autosomal dominant" "18y" "age onset 1-2y" "" "" "" "" "" "" "" "" "" "" "" "0000073244" "00289" "00094852" "01500" "Familial, autosomal dominant" "26y" "age onset 1-2y" "" "" "" "" "" "" "" "" "" "" "" "0000073245" "00289" "00094853" "01500" "Familial, autosomal dominant" "57y" "decreased vibration sense" "18y" "" "" "" "" "" "" "" "" "" "" "0000073246" "00289" "00094854" "01500" "Familial, autosomal dominant" "4y" "upper limb involvement" "1y6m" "" "" "" "" "" "" "" "" "" "" "0000073247" "00289" "00094855" "01500" "Familial, autosomal dominant" "36y" "pes cavus" "?" "" "" "" "" "" "" "" "" "" "" "0000073248" "00289" "00094856" "01500" "Familial, autosomal dominant" "63y" "decreased vibration sense, distal sensorimotor neuropathy, muscle wasting" "16y" "" "" "" "" "" "" "" "" "" "" "0000073249" "00289" "00094857" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073250" "00289" "00094858" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073251" "00289" "00094859" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073252" "00289" "00094860" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073253" "00289" "00094861" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073254" "00289" "00094862" "01500" "Familial, autosomal dominant" "81y" "upper limb involvement" "20y" "" "" "" "" "" "" "" "" "" "" "0000073255" "00289" "00094863" "01500" "Familial, autosomal dominant" "65y" "urinary symptoms" "5y" "" "" "" "" "" "" "" "" "" "" "0000073256" "00289" "00094864" "01500" "Familial, autosomal dominant" "62y" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000073257" "00289" "00094865" "01500" "Familial, autosomal dominant" "49y" "none" "30y" "" "" "" "" "" "" "" "" "" "" "0000073258" "00289" "00094866" "01500" "Familial, autosomal dominant" "52y" "upper limb involvement, urinary symptoms" "10y" "" "" "" "" "" "" "" "" "" "" "0000073259" "00289" "00094867" "01500" "Familial, autosomal dominant" "56y" "urinary symptoms" "39y" "" "" "" "" "" "" "" "" "" "" "0000073260" "00289" "00094868" "01500" "Familial, autosomal dominant" "33y" "upper limb involvement, urinary symptoms" "10y" "" "" "" "" "" "" "" "" "" "" "0000073261" "00289" "00094869" "01500" "Familial, autosomal dominant" "25y" "urinary symptoms" "12y" "" "" "" "" "" "" "" "" "" "" "0000073262" "00289" "00094870" "01500" "Familial, autosomal dominant" "25y" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000073263" "00289" "00094871" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073264" "00289" "00094872" "01500" "Familial, autosomal dominant" "?" "unknown" "<73y" "" "" "" "" "" "" "" "" "" "" "0000073265" "00289" "00094873" "01500" "Familial, autosomal dominant" "44y" "none" "4y" "" "" "" "" "" "" "" "" "" "" "0000073266" "00289" "00094874" "01500" "Isolated (sporadic)" "?" "unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073267" "00289" "00094875" "01500" "Familial, autosomal dominant" "?" "distal sensorimotor neuropathy" "?" "" "" "" "" "" "" "" "" "" "" "0000073268" "00289" "00094876" "01500" "Familial, autosomal dominant" "47y" "distal sensorimotor neuropathy" "11y" "" "" "" "" "" "" "" "" "" "" "0000073269" "00289" "00094877" "01500" "Familial, autosomal dominant" "?" "distal sensorimotor neuropathy" "?" "" "" "" "" "" "" "" "" "" "" "0000073270" "00289" "00094878" "01500" "Familial, autosomal dominant" "53y" "distal sensorimotor neuropathy" "11y" "" "" "" "" "" "" "" "" "" "" "0000073271" "00289" "00094879" "01500" "Familial, autosomal dominant" "12y" "none" "11y" "" "" "" "" "" "" "" "" "" "" "0000073272" "00289" "00094880" "01500" "Familial, autosomal dominant" "10y" "none" "2y" "" "" "" "" "" "" "" "" "" "" "0000073273" "00289" "00094881" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073274" "00289" "00094882" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073275" "00289" "00094883" "01500" "Familial, autosomal dominant" "25y" "unknown" "25y" "" "" "" "" "" "" "" "" "" "" "0000073276" "00289" "00094884" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073277" "00289" "00094885" "01500" "Familial, autosomal dominant" "56y" "none" "6y" "" "" "" "" "" "" "" "" "" "" "0000073278" "00289" "00094886" "01500" "Familial, autosomal dominant" "54y" "none" "6y" "" "" "" "" "" "" "" "" "" "" "0000073279" "00289" "00094887" "01500" "Familial, autosomal dominant" "?" "unknown" "<54y" "" "" "" "" "" "" "" "" "" "" "0000073280" "00289" "00094888" "01500" "Familial, autosomal dominant" "?" "unknown" "<54y" "" "" "" "" "" "" "" "" "" "" "0000073281" "00289" "00094889" "01500" "Familial, autosomal dominant" "62y" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000073282" "00289" "00094890" "01500" "Familial, autosomal dominant" "40y" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000073283" "00289" "00094891" "01500" "Familial, autosomal dominant" "35y" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000073284" "00289" "00094892" "01500" "Familial, autosomal dominant" "33y" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000073285" "00289" "00094893" "01500" "Familial, autosomal dominant" "14y" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000073286" "00289" "00094894" "01500" "Familial, autosomal dominant" "11y" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000073287" "00289" "00094895" "01500" "Isolated (sporadic)" "?" "none" "<20y" "" "" "" "" "" "" "" "" "" "" "0000073288" "00289" "00094896" "01500" "Familial, autosomal dominant" "?" "none" "<30y" "" "" "" "" "" "" "" "" "" "" "0000073289" "00289" "00094897" "01500" "Familial, autosomal dominant" "?" "none" "<20y" "" "" "" "" "" "" "" "" "" "" "0000073290" "00289" "00094898" "01500" "Isolated (sporadic)" "?" "urinary symptoms" "40y" "" "" "" "" "" "" "" "" "" "" "0000073291" "00289" "00094899" "01500" "Familial, autosomal dominant" "?" "none" "1y6m" "" "" "" "" "" "" "" "" "" "" "0000073292" "00289" "00094900" "01500" "Isolated (sporadic)" "?" "none" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073293" "00289" "00094901" "01500" "Familial, autosomal dominant" "?" "none" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073294" "00289" "00094902" "01500" "Familial, autosomal dominant" "?" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000073295" "00289" "00094903" "01500" "Familial, autosomal dominant" "?" "retinitis pigmentosa" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073296" "00289" "00094904" "01500" "Familial, autosomal dominant" "?" "none" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073297" "00289" "00094905" "01500" "Familial, autosomal dominant" "?" "none" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073298" "00289" "00094906" "01500" "Familial, autosomal dominant" "?" "none" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073299" "00289" "00094907" "01500" "Familial, autosomal dominant" "?" "none" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073300" "00289" "00094908" "01500" "Familial, autosomal dominant" "?" "none" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073301" "00289" "00094909" "01500" "Familial, autosomal dominant" "?" "none" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073302" "00289" "00094910" "01500" "Familial, autosomal dominant" "?" "none" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073303" "00289" "00094911" "01500" "Familial, autosomal dominant" "?" "none" "<10y" "" "" "" "" "" "" "" "" "" "" "0000073304" "00289" "00094912" "01500" "Familial, autosomal dominant" "?" "distal motor neuropathy, muscle wasting" ">50y" "" "" "" "" "" "" "" "" "" "" "0000073305" "00289" "00094913" "01500" "Familial, autosomal dominant" "?" "muscle wasting" ">50y" "" "" "" "" "" "" "" "" "" "" "0000073306" "00289" "00094914" "01500" "Familial, autosomal dominant" "?" "muscle wasting" ">50y" "" "" "" "" "" "" "" "" "" "" "0000073307" "00289" "00094915" "01500" "Familial, autosomal dominant" "?" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000073308" "00289" "00094916" "01500" "Familial, autosomal dominant" "?" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000073309" "00289" "00094917" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073310" "00289" "00094918" "01500" "Familial, autosomal dominant" "59y" "unknown" "3y" "" "" "" "" "" "" "" "" "" "" "0000073311" "00289" "00094919" "01500" "Familial, autosomal dominant" "49y" "unknown" "11y" "" "" "" "" "" "" "" "" "" "" "0000073312" "00289" "00094920" "01500" "Familial, autosomal dominant" "40y" "pes cavus" "5y" "" "" "" "" "" "" "" "" "" "" "0000073313" "00289" "00094921" "01500" "Familial, autosomal dominant" "34y" "unknown" "4y" "" "" "" "" "" "" "" "" "" "" "0000073314" "00289" "00094922" "01500" "Familial, autosomal dominant" "33y" "unknown" "12y" "" "" "" "" "" "" "" "" "" "" "0000073315" "00289" "00094923" "01500" "Familial, autosomal dominant" "32y" "unknown" "4y" "" "" "" "" "" "" "" "" "" "" "0000073316" "00289" "00094924" "01500" "Familial, autosomal dominant" "30y" "unknown" "29y" "" "" "" "" "" "" "" "" "" "" "0000073317" "00289" "00094925" "01500" "Familial, autosomal dominant" "27y" "unknown" "4y" "" "" "" "" "" "" "" "" "" "" "0000073318" "00289" "00094926" "01500" "Familial, autosomal dominant" "11y" "unknown" "9y" "" "" "" "" "" "" "" "" "" "" "0000073319" "00289" "00094927" "01500" "Familial, autosomal dominant" "12y" "pes cavus" "7y" "" "" "" "" "" "" "" "" "" "" "0000073320" "00289" "00094928" "01500" "Familial, autosomal dominant" "3y" "unknown" "3y" "" "" "" "" "" "" "" "" "" "" "0000073321" "00289" "00094929" "01500" "Familial, autosomal dominant" "?" "unknown" "?" "" "" "" "" "" "" "" "" "" "" "0000073322" "00289" "00094930" "01500" "Familial, autosomal dominant" "?" "scoliosis, pes planus, distal sensorimotor neuropathy" "?" "" "" "" "" "" "" "" "" "" "" "0000073323" "00289" "00094931" "01500" "Familial, autosomal dominant" "?" "scoliosis, pes planus, distal sensorimotor neuropathy, muscle wasting" "3y" "" "" "" "" "" "" "" "" "" "" "0000073324" "00289" "00094932" "01500" "Familial, autosomal dominant" "?" "scoliosis, pes planus, distal sensorimotor neuropathy" "7y" "" "" "" "" "" "" "" "" "" "" "0000073325" "00289" "00094933" "01500" "Familial, autosomal dominant" "?" "scoliosis, pes planus, distal sensorimotor neuropathy" "3y" "" "" "" "" "" "" "" "" "" "" "0000073326" "00289" "00094934" "01500" "Familial, autosomal dominant" "?" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000073327" "00289" "00094935" "01500" "Familial, autosomal dominant" "4y" "none" "2y" "" "" "" "" "" "" "" "" "" "" "0000073328" "00289" "00094936" "01500" "Familial, autosomal dominant" "?" "none" "?" "" "" "" "" "" "" "" "" "" "" "0000073329" "00289" "00094937" "01500" "Familial, autosomal dominant" "2y" "none" "2y" "" "" "" "" "" "" "" "" "" "" "0000073330" "00289" "00094938" "01500" "Isolated (sporadic)" "2y" "none" "1y" "" "" "" "" "" "" "" "" "" "" "0000073331" "00289" "00094939" "01500" "Familial, autosomal recessive" "31y" "scoliosis, urinary symptoms, pes cavus, decreased vibration sense, paresthesia, numbness, excessive tingling" "1y" "" "" "" "" "" "" "" "" "" "" "0000073332" "00289" "00094940" "01500" "Familial, autosomal recessive" "43y" "scoliosis, urinary symptoms, pes cavus, decreased vibration sense, paresthesia, numbness, excessive tingling" "1y" "" "" "" "" "" "" "" "" "" "" "0000073333" "00289" "00094941" "01500" "Familial, autosomal recessive" "12y" "pes cavus, decreased vibration sense, paresthesia, numbness, excessive tingling" "1y" "" "" "" "" "" "" "" "" "" "" "0000073334" "00289" "00094942" "01500" "Familial, autosomal recessive" "10y" "pes cavus, decreased vibration sense, paresthesia, numbness, excessive tingling" "1y" "" "" "" "" "" "" "" "" "" "" "0000073335" "00289" "00094943" "01500" "Familial, autosomal recessive" "3y" "pes cavus, paresthesia, numbness, excessive tingling" "1y" "" "" "" "" "" "" "" "" "" "" "0000073336" "00289" "00094944" "01500" "Familial, autosomal dominant" "40y" "age onset 3-4y" "" "" "" "" "" "" "" "" "" "" "" "0000073337" "00289" "00094945" "01500" "Familial, autosomal dominant" "9y" "age onset 3-4y" "" "" "" "" "" "" "" "" "" "" "" "0000073338" "00289" "00094946" "01500" "Familial, autosomal dominant" "6y" "none" "3y" "" "" "" "" "" "" "" "" "" "" "0000157417" "00198" "00208805" "01164" "Unknown" "" "HP:0011442 (Abnormality of central motor function); HP:0011804 (Abnormality of muscle physiology); HP:0001252 (Muscular hypotonia); HP:0001347 (Hyperreflexia); HP:0003487 (Babinski sign); HP:0007256 (Abnormal pyramidal signs); HP:0100022 (Abnormality of movement); HP:0001288 (Gait disturbance); HP:0002313 (Spastic paraparesis)" "" "" "" "" "" "" "" "" "" "" "" "0000227622" "00198" "00300312" "01164" "Unknown" "" "Spastic paraparesis (HP:0002313)" "" "" "" "" "" "" "" "" "" "" "" "0000228578" "00198" "00301400" "01164" "Unknown" "" "Spastic gait (HP:0002064); Abnormal muscle tone (HP:0003808)" "" "" "" "" "" "" "" "" "" "" "" "0000233251" "00198" "00307691" "01164" "Unknown" "" "Global developmental delay (HP:0001263); Abnormal muscle tone (HP:0003808)" "" "" "" "" "" "" "" "" "" "" "" "0000272291" "00198" "00377109" "01807" "Unknown" "" "Spastic paraplegia (HP:0001258)" "" "" "" "" "" "" "" "" "" "" "" "0000340333" "00325" "00451673" "01709" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "SPG3A" "spastic paraplegia" "" "0000344307" "00198" "00455774" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "SPG3A" "neurogenetic diseases" "" "0000344308" "00198" "00455775" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "SPG3A" "neurogenetic diseases" "" "0000347946" "00360" "00460218" "00006" "Familial, autosomal dominant" "37y" "see paper; ..., deceased after last visit; motor retardation; normal muscle tone; spastic paraplegia" "" "" "" "" "" "" "" "" "SPG3A" "congenital muscular dystrophy/myopathy" "" "0000353817" "00198" "00468664" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000353818" "00198" "00468665" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 711 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000004029" "00004105" "1" "00559" "00559" "2013-12-07 17:12:14" "00006" "2013-12-20 10:34:43" "arrayCNV;SEQ-NG-S" "DNA" "" "" "0000047193" "00046993" "1" "01330" "01330" "2015-08-04 16:25:19" "" "" "SEQ" "DNA" "" "" "0000057757" "00057796" "1" "00006" "00006" "2013-02-26 10:12:58" "00006" "2013-02-26 15:37:15" "SEQ" "DNA" "" "" "0000057762" "00057801" "1" "00006" "00006" "2012-11-05 13:33:58" "" "" "SEQ" "DNA" "" "" "0000057769" "00057808" "1" "00006" "00006" "2012-11-05 13:33:58" "" "" "SEQ" "DNA" "" "" "0000057794" "00057833" "1" "00006" "00006" "2013-02-26 10:08:07" "00006" "2013-02-26 15:48:02" "SEQ" "DNA" "" "" "0000059225" "00059239" "1" "01552" "01552" "2016-03-04 12:45:17" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000094656" "00094255" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094657" "00094256" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094658" "00094257" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094659" "00094258" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094660" "00094259" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094661" "00094260" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094662" "00094261" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094663" "00094262" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094664" "00094263" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094665" "00094264" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094666" "00094265" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094667" "00094266" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094668" "00094267" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094669" "00094268" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094670" "00094269" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094671" "00094270" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094672" "00094271" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094673" "00094272" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094674" "00094273" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094675" "00094274" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094676" "00094275" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094677" "00094276" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094678" "00094277" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094679" "00094278" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094680" "00094279" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094681" "00094280" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094682" "00094281" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094683" "00094282" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094684" "00094283" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094685" "00094284" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094686" "00094285" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094687" "00094286" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094688" "00094287" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094689" "00094288" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094690" "00094289" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094691" "00094290" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094692" "00094291" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094693" "00094292" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094694" "00094293" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094695" "00094294" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094696" "00094295" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094697" "00094296" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094698" "00094297" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094699" "00094298" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094700" "00094299" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094701" "00094300" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094702" "00094301" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094703" "00094302" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094704" "00094303" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094705" "00094304" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094706" "00094305" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094707" "00094306" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094708" "00094307" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094709" "00094308" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094710" "00094309" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094711" "00094310" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094712" "00094311" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094713" "00094312" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094714" "00094313" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094715" "00094314" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094716" "00094315" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094717" "00094316" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094718" "00094317" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094719" "00094318" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094720" "00094319" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094721" "00094320" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094722" "00094321" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094723" "00094322" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094724" "00094323" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094725" "00094324" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094726" "00094325" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094727" "00094326" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094728" "00094327" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094729" "00094328" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094730" "00094329" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094731" "00094330" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094732" "00094331" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094733" "00094332" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094734" "00094333" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094735" "00094334" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094736" "00094335" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094737" "00094336" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094738" "00094337" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094739" "00094338" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094740" "00094339" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094741" "00094340" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094742" "00094341" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094743" "00094342" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094744" "00094343" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094745" "00094344" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094746" "00094345" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094747" "00094346" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094748" "00094347" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094749" "00094348" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094750" "00094349" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094751" "00094350" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094752" "00094351" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094753" "00094352" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094754" "00094353" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094755" "00094354" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094756" "00094355" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094757" "00094356" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094758" "00094357" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094759" "00094358" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094760" "00094359" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094761" "00094360" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094762" "00094361" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094763" "00094362" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094764" "00094363" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094765" "00094364" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094766" "00094365" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094767" "00094366" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094768" "00094367" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094769" "00094368" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094770" "00094369" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094771" "00094370" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094772" "00094371" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094773" "00094372" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094774" "00094373" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094775" "00094374" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094776" "00094375" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094777" "00094376" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094778" "00094377" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094779" "00094378" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094780" "00094379" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094781" "00094380" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094782" "00094381" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094783" "00094382" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094784" "00094383" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094785" "00094384" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094786" "00094385" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094787" "00094386" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094788" "00094387" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094789" "00094388" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094790" "00094389" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094791" "00094390" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094792" "00094391" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094793" "00094392" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094794" "00094393" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094795" "00094394" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094796" "00094395" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094797" "00094396" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094798" "00094397" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094799" "00094398" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094800" "00094399" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094801" "00094400" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094802" "00094401" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094803" "00094402" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094804" "00094403" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094805" "00094404" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094806" "00094405" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094807" "00094406" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094808" "00094407" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094809" "00094408" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094810" "00094409" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094811" "00094410" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094812" "00094411" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094813" "00094412" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094814" "00094413" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094815" "00094414" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094816" "00094415" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094817" "00094416" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094818" "00094417" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094819" "00094418" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094820" "00094419" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094821" "00094420" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094822" "00094421" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094823" "00094422" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094824" "00094423" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094825" "00094424" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094826" "00094425" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094827" "00094426" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094828" "00094427" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094829" "00094428" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094830" "00094429" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094831" "00094430" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094832" "00094431" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094833" "00094432" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094834" "00094433" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094835" "00094434" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094836" "00094435" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094837" "00094436" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094838" "00094437" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094839" "00094438" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094840" "00094439" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094841" "00094440" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094842" "00094441" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094843" "00094442" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094844" "00094443" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094845" "00094444" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094846" "00094445" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094847" "00094446" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094848" "00094447" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094849" "00094448" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094850" "00094449" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094851" "00094450" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094852" "00094451" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094853" "00094452" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094854" "00094453" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094855" "00094454" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094856" "00094455" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094857" "00094456" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094858" "00094457" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094859" "00094458" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094860" "00094459" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094861" "00094460" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094862" "00094461" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094863" "00094462" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094864" "00094463" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094865" "00094464" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094866" "00094465" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094867" "00094466" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094868" "00094467" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094869" "00094468" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094870" "00094469" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094871" "00094470" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094872" "00094471" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094873" "00094472" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094874" "00094473" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094875" "00094474" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094876" "00094475" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094877" "00094476" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094878" "00094477" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094879" "00094478" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094880" "00094479" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094881" "00094480" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094882" "00094481" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094883" "00094482" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094884" "00094483" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094885" "00094484" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094886" "00094485" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094887" "00094486" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094888" "00094487" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094889" "00094488" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094890" "00094489" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094891" "00094490" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094892" "00094491" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094893" "00094492" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094894" "00094493" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094895" "00094494" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094896" "00094495" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094897" "00094496" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094898" "00094497" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094899" "00094498" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094900" "00094499" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094901" "00094500" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094902" "00094501" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094903" "00094502" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094904" "00094503" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094905" "00094504" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094906" "00094505" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094907" "00094506" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094908" "00094507" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094909" "00094508" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094910" "00094509" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094911" "00094510" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094912" "00094511" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094913" "00094512" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094914" "00094513" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094915" "00094514" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094916" "00094515" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094917" "00094516" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094918" "00094517" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094919" "00094518" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094920" "00094519" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094921" "00094520" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094922" "00094521" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094923" "00094522" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094924" "00094523" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094925" "00094524" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094926" "00094525" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094927" "00094526" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094928" "00094527" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094929" "00094528" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094930" "00094529" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000094931" "00094530" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094932" "00094531" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094933" "00094532" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094934" "00094533" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094935" "00094534" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000094936" "00094535" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094937" "00094536" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094938" "00094537" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094939" "00094538" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094940" "00094539" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094941" "00094540" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094942" "00094541" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094943" "00094542" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094944" "00094543" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094945" "00094544" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094946" "00094545" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094947" "00094546" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094948" "00094547" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094949" "00094548" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094950" "00094549" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094951" "00094550" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094952" "00094551" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094953" "00094552" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094954" "00094553" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094955" "00094554" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094956" "00094555" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094957" "00094556" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094958" "00094557" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094959" "00094558" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094960" "00094559" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094961" "00094560" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094962" "00094561" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094963" "00094562" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094964" "00094563" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094965" "00094564" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094966" "00094565" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094967" "00094566" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094968" "00094567" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094969" "00094568" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094970" "00094569" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094971" "00094570" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094972" "00094571" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094973" "00094572" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094974" "00094573" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094975" "00094574" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094976" "00094575" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094977" "00094576" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094978" "00094577" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094979" "00094578" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094980" "00094579" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094981" "00094580" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094982" "00094581" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094983" "00094582" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094984" "00094583" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094985" "00094584" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094986" "00094585" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094987" "00094586" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094988" "00094587" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094989" "00094588" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094990" "00094589" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094991" "00094590" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094992" "00094591" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094993" "00094592" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094994" "00094593" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094995" "00094594" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094996" "00094595" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094997" "00094596" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094998" "00094597" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000094999" "00094598" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095000" "00094599" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095001" "00094600" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095002" "00094601" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095003" "00094602" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095004" "00094603" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095005" "00094604" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095006" "00094605" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095007" "00094606" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095008" "00094607" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095009" "00094608" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095010" "00094609" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095011" "00094610" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095012" "00094611" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095013" "00094612" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095014" "00094613" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095015" "00094614" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095016" "00094615" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095017" "00094616" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095018" "00094617" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095019" "00094618" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095020" "00094619" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095021" "00094620" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095022" "00094621" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095023" "00094622" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095024" "00094623" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095025" "00094624" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095026" "00094625" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095027" "00094626" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095028" "00094627" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095029" "00094628" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095030" "00094629" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095031" "00094630" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095032" "00094631" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095033" "00094632" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095034" "00094633" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095035" "00094634" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095036" "00094635" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095037" "00094636" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095038" "00094637" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095039" "00094638" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095040" "00094639" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095041" "00094640" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095042" "00094641" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095043" "00094642" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095044" "00094643" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095045" "00094644" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095046" "00094645" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095047" "00094646" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095048" "00094647" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095049" "00094648" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095050" "00094649" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095051" "00094650" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095052" "00094651" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095053" "00094652" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095054" "00094653" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095055" "00094654" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095056" "00094655" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095057" "00094656" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095058" "00094657" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095059" "00094658" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095060" "00094659" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095061" "00094660" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095062" "00094661" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095063" "00094662" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095064" "00094663" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095065" "00094664" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095066" "00094665" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095067" "00094666" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095068" "00094667" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095069" "00094668" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095070" "00094669" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095071" "00094670" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095072" "00094671" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095073" "00094672" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095074" "00094673" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095075" "00094674" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095076" "00094675" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095077" "00094676" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095078" "00094677" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095079" "00094678" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095080" "00094679" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095081" "00094680" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095082" "00094681" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095083" "00094682" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095084" "00094683" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095085" "00094684" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095086" "00094685" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095087" "00094686" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095088" "00094687" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095089" "00094688" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095090" "00094689" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095091" "00094690" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095092" "00094691" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095093" "00094692" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095094" "00094693" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095095" "00094694" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095096" "00094695" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095097" "00094696" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095098" "00094697" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095099" "00094698" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095100" "00094699" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095101" "00094700" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095102" "00094701" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095103" "00094702" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095104" "00094703" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095105" "00094704" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095106" "00094705" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095107" "00094706" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095108" "00094707" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095109" "00094708" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095110" "00094709" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095111" "00094710" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095112" "00094711" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095113" "00094712" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095114" "00094713" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095115" "00094714" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095116" "00094715" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095117" "00094716" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095118" "00094717" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095119" "00094718" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095120" "00094719" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095121" "00094720" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095122" "00094721" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095123" "00094722" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095124" "00094723" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095125" "00094724" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095126" "00094725" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095127" "00094726" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095128" "00094727" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095129" "00094728" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095130" "00094729" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095131" "00094730" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095132" "00094731" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095133" "00094732" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095134" "00094733" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095135" "00094734" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095136" "00094735" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095137" "00094736" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095138" "00094737" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095139" "00094738" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095140" "00094739" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095141" "00094740" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095142" "00094741" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095143" "00094742" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095144" "00094743" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095145" "00094744" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095146" "00094745" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095147" "00094746" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095148" "00094747" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095149" "00094748" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095150" "00094749" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095151" "00094750" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095152" "00094751" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095153" "00094752" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095154" "00094753" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095155" "00094754" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095156" "00094755" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095157" "00094756" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095158" "00094757" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095159" "00094758" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095160" "00094759" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095161" "00094760" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095162" "00094761" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095163" "00094762" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095164" "00094763" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095165" "00094764" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095166" "00094765" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095167" "00094766" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095168" "00094767" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095169" "00094768" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095170" "00094769" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095171" "00094770" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095172" "00094771" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095173" "00094772" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095174" "00094773" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095175" "00094774" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095176" "00094775" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095177" "00094776" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095178" "00094777" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095179" "00094778" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095180" "00094779" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095181" "00094780" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095182" "00094781" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095183" "00094782" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095184" "00094783" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095185" "00094784" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095186" "00094785" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095187" "00094786" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095188" "00094787" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095189" "00094788" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095190" "00094789" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095191" "00094790" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095192" "00094791" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095193" "00094792" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095194" "00094793" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095195" "00094794" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095196" "00094795" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095197" "00094796" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095198" "00094797" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095199" "00094798" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095200" "00094799" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095201" "00094800" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095202" "00094801" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095203" "00094802" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095204" "00094803" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095205" "00094804" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095206" "00094805" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095207" "00094806" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095208" "00094807" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095209" "00094808" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095210" "00094809" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095211" "00094810" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095212" "00094811" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC" "DNA" "leukocytes" "" "0000095213" "00094812" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC" "DNA" "leukocytes" "" "0000095214" "00094813" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC" "DNA" "leukocytes" "" "0000095215" "00094814" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC" "DNA" "leukocytes" "" "0000095216" "00094815" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC" "DNA" "leukocytes" "" "0000095217" "00094816" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC" "DNA" "leukocytes" "" "0000095218" "00094817" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC" "DNA" "leukocytes" "" "0000095219" "00094818" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095220" "00094819" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095221" "00094820" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095222" "00094821" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095223" "00094822" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095224" "00094823" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095225" "00094824" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095226" "00094825" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095227" "00094826" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095228" "00094827" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095229" "00094828" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095230" "00094829" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095231" "00094830" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095232" "00094831" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095233" "00094832" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095234" "00094833" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095235" "00094834" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095236" "00094835" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095237" "00094836" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095238" "00094837" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095239" "00094838" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095240" "00094839" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "SEQ" "DNA" "leukocytes" "" "0000095241" "00094840" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095242" "00094841" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095243" "00094842" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095244" "00094843" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095245" "00094844" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RFLP" "DNA" "leukocytes" "" "0000095246" "00094845" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RT-PCR;SEQ" "DNA;RNA" "leukocytes" "" "0000095247" "00094846" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RT-PCR;SEQ" "DNA;RNA" "leukocytes" "" "0000095248" "00094847" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RT-PCR;SEQ" "DNA;RNA" "leukocytes" "" "0000095249" "00094848" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC" "DNA" "leukocytes" "" "0000095250" "00094849" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC" "DNA" "leukocytes" "" "0000095251" "00094850" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC" "DNA" "leukocytes" "" "0000095252" "00094851" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC" "DNA" "leukocytes" "" "0000095253" "00094852" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC" "DNA" "leukocytes" "" "0000095254" "00094853" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC" "DNA" "leukocytes" "" "0000095255" "00094854" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC" "DNA" "leukocytes" "" "0000095256" "00094855" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC" "DNA" "leukocytes" "" "0000095257" "00094856" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC" "DNA" "leukocytes" "" "0000095258" "00094857" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RT-PCR" "DNA" "leukocytes" "" "0000095259" "00094858" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RT-PCR" "DNA" "leukocytes" "" "0000095260" "00094859" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RT-PCR" "DNA" "leukocytes" "" "0000095261" "00094860" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RT-PCR" "DNA" "leukocytes" "" "0000095262" "00094861" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RT-PCR" "DNA" "leukocytes" "" "0000095263" "00094862" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RT-PCR" "DNA" "leukocytes" "" "0000095264" "00094863" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RT-PCR" "DNA" "leukocytes" "" "0000095265" "00094864" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RT-PCR" "DNA" "leukocytes" "" "0000095266" "00094865" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RT-PCR" "DNA" "leukocytes" "" "0000095267" "00094866" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RT-PCR" "DNA" "leukocytes" "" "0000095268" "00094867" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RT-PCR" "DNA" "leukocytes" "" "0000095269" "00094868" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RT-PCR" "DNA" "leukocytes" "" "0000095270" "00094869" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RT-PCR" "DNA" "leukocytes" "" "0000095271" "00094870" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "RT-PCR" "DNA" "leukocytes" "" "0000095272" "00094871" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC" "DNA" "leukocytes" "" "0000095273" "00094872" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC" "DNA" "leukocytes" "" "0000095274" "00094873" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "DHPLC" "DNA" "leukocytes" "" "0000095275" "00094874" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "MLPA" "DNA" "leukocytes" "" "0000095276" "00094875" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095277" "00094876" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095278" "00094877" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095279" "00094878" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095280" "00094879" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095281" "00094880" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095282" "00094881" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095283" "00094882" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095284" "00094883" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095285" "00094884" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095286" "00094885" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000095287" "00094886" "1" "01500" "01500" 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"" "0000095347" "00094946" "1" "01500" "01500" "2016-12-15 14:31:34" "" "" "PCR" "DNA" "leukocytes" "" "0000156104" "00155240" "1" "01741" "01741" "2018-03-19 10:58:08" "" "" "SEQ" "DNA" "" "" "0000209854" "00208805" "1" "01164" "01164" "2018-12-17 10:13:39" "" "" "SEQ-NG" "DNA" "" "" "0000301433" "00300312" "1" "01164" "01164" "2020-04-30 13:29:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000302521" "00301400" "1" "01164" "01164" "2020-05-15 11:27:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000308831" "00307691" "1" "01164" "01164" "2020-08-18 12:56:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000378314" "00377109" "1" "01807" "01807" "2021-07-05 14:03:01" "" "" "SEQ" "DNA" "" "" "0000453277" "00451673" "1" "01709" "00006" "2024-06-27 15:56:25" "00006" "2024-07-18 13:19:35" "SEQ-NG" "DNA" "" "" "0000457390" "00455774" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000457391" "00455775" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000461849" 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"0000094980" "ATL1" "0000094981" "ATL1" "0000094982" "ATL1" "0000094983" "ATL1" "0000094984" "ATL1" "0000094985" "ATL1" "0000094986" "ATL1" "0000094987" "ATL1" "0000094988" "ATL1" "0000094989" "ATL1" "0000094990" "ATL1" "0000094991" "ATL1" "0000094992" "ATL1" "0000094993" "ATL1" "0000094994" "ATL1" "0000094995" "ATL1" "0000094996" "ATL1" "0000094997" "ATL1" "0000094998" "ATL1" "0000094999" "ATL1" "0000095000" "ATL1" "0000095001" "ATL1" "0000095002" "ATL1" "0000095003" "ATL1" "0000095004" "ATL1" "0000095005" "ATL1" "0000095006" "ATL1" "0000095007" "ATL1" "0000095008" "ATL1" "0000095009" "ATL1" "0000095010" "ATL1" "0000095011" "ATL1" "0000095012" "ATL1" "0000095013" "ATL1" "0000095014" "ATL1" "0000095015" "ATL1" "0000095016" "ATL1" "0000095017" "ATL1" "0000095018" "ATL1" "0000095019" "ATL1" "0000095020" "ATL1" "0000095021" "ATL1" "0000095022" "ATL1" "0000095023" "ATL1" "0000095024" "ATL1" "0000095025" "ATL1" "0000095026" "ATL1" "0000095027" "ATL1" "0000095028" "ATL1" "0000095029" "ATL1" "0000095030" "ATL1" "0000095031" "ATL1" "0000095032" "ATL1" "0000095033" "ATL1" "0000095034" "ATL1" "0000095035" "ATL1" "0000095036" "ATL1" "0000095037" "ATL1" "0000095038" "ATL1" "0000095039" "ATL1" "0000095040" "ATL1" "0000095041" "ATL1" "0000095042" "ATL1" "0000095043" "ATL1" "0000095044" "ATL1" "0000095045" "ATL1" "0000095046" "ATL1" "0000095047" "ATL1" "0000095048" "ATL1" "0000095049" "ATL1" "0000095050" "ATL1" "0000095051" "ATL1" "0000095052" "ATL1" "0000095053" "ATL1" "0000095054" "ATL1" "0000095055" "ATL1" "0000095056" "ATL1" "0000095057" "ATL1" "0000095058" "ATL1" "0000095059" "ATL1" "0000095060" "ATL1" "0000095061" "ATL1" "0000095062" "ATL1" "0000095063" "ATL1" "0000095064" "ATL1" "0000095065" "ATL1" "0000095066" "ATL1" "0000095067" "ATL1" "0000095068" "ATL1" "0000095069" "ATL1" "0000095070" "ATL1" "0000095071" "ATL1" "0000095072" "ATL1" "0000095073" "ATL1" "0000095074" "ATL1" "0000095075" "ATL1" "0000095076" "ATL1" "0000095077" "ATL1" "0000095078" "ATL1" "0000095079" "ATL1" "0000095080" "ATL1" "0000095081" "ATL1" "0000095082" "ATL1" "0000095083" "ATL1" "0000095084" "ATL1" "0000095085" "ATL1" "0000095086" "ATL1" "0000095087" "ATL1" "0000095088" "ATL1" "0000095089" "ATL1" "0000095090" "ATL1" "0000095091" "ATL1" "0000095092" "ATL1" "0000095093" "ATL1" "0000095094" "ATL1" "0000095095" "ATL1" "0000095096" "ATL1" "0000095097" "ATL1" "0000095098" "ATL1" "0000095099" "ATL1" "0000095100" "ATL1" "0000095101" "ATL1" "0000095102" "ATL1" "0000095103" "ATL1" "0000095104" "ATL1" "0000095105" "ATL1" "0000095106" "ATL1" "0000095107" "ATL1" "0000095108" "ATL1" "0000095109" "ATL1" "0000095110" "ATL1" "0000095111" "ATL1" "0000095112" "ATL1" "0000095113" "ATL1" "0000095114" "ATL1" "0000095115" "ATL1" "0000095116" "ATL1" "0000095117" "ATL1" "0000095118" "ATL1" "0000095119" "ATL1" "0000095120" "ATL1" "0000095121" "ATL1" "0000095122" "ATL1" "0000095123" "ATL1" "0000095124" "ATL1" "0000095125" "ATL1" "0000095126" "ATL1" "0000095127" "ATL1" "0000095128" "ATL1" "0000095129" "ATL1" "0000095130" "ATL1" "0000095131" "ATL1" "0000095132" "ATL1" "0000095133" "ATL1" "0000095134" "ATL1" "0000095135" "ATL1" "0000095136" "ATL1" "0000095137" "ATL1" "0000095138" "ATL1" "0000095139" "ATL1" "0000095140" "ATL1" "0000095141" "ATL1" "0000095142" "ATL1" "0000095143" "ATL1" "0000095144" "ATL1" "0000095145" "ATL1" "0000095146" "ATL1" "0000095147" "ATL1" "0000095148" "ATL1" "0000095149" "ATL1" "0000095150" "ATL1" "0000095151" "ATL1" "0000095152" "ATL1" "0000095153" "ATL1" "0000095154" "ATL1" "0000095155" "ATL1" "0000095156" "ATL1" "0000095157" "ATL1" "0000095158" "ATL1" "0000095159" "ATL1" "0000095160" "ATL1" "0000095161" "ATL1" "0000095162" "ATL1" "0000095163" "ATL1" "0000095164" "ATL1" "0000095165" "ATL1" "0000095166" "ATL1" "0000095167" "ATL1" "0000095168" "ATL1" "0000095169" "ATL1" "0000095170" "ATL1" "0000095171" "ATL1" "0000095172" "ATL1" "0000095173" "ATL1" "0000095174" "ATL1" "0000095175" "ATL1" "0000095176" "ATL1" "0000095177" "ATL1" "0000095178" "ATL1" "0000095179" "ATL1" "0000095180" "ATL1" "0000095181" "ATL1" "0000095182" "ATL1" "0000095183" "ATL1" "0000095184" "ATL1" "0000095185" "ATL1" "0000095186" "ATL1" "0000095187" "ATL1" "0000095188" "ATL1" "0000095189" "ATL1" "0000095190" "ATL1" "0000095191" "ATL1" "0000095192" "ATL1" "0000095193" "ATL1" "0000095194" "ATL1" "0000095195" "ATL1" "0000095196" "ATL1" "0000095197" "ATL1" "0000095198" "ATL1" "0000095199" "ATL1" "0000095200" "ATL1" "0000095201" "ATL1" "0000095202" "ATL1" "0000095203" "ATL1" "0000095204" "ATL1" "0000095205" "ATL1" "0000095206" "ATL1" "0000095207" "ATL1" "0000095208" "ATL1" "0000095209" "ATL1" "0000095210" "ATL1" "0000095211" "ATL1" "0000095212" "ATL1" "0000095213" "ATL1" "0000095214" "ATL1" "0000095215" "ATL1" "0000095216" "ATL1" "0000095217" "ATL1" "0000095218" "ATL1" "0000095219" "ATL1" "0000095220" "ATL1" "0000095221" "ATL1" "0000095222" "ATL1" "0000095223" "ATL1" "0000095224" "ATL1" "0000095225" "ATL1" "0000095226" "ATL1" "0000095227" "ATL1" "0000095228" "ATL1" "0000095229" "ATL1" "0000095230" "ATL1" "0000095231" "ATL1" "0000095232" "ATL1" "0000095233" "ATL1" "0000095234" "ATL1" "0000095235" "ATL1" "0000095236" "ATL1" "0000095237" "ATL1" "0000095238" "ATL1" "0000095239" "ATL1" "0000095240" "ATL1" "0000095241" "ATL1" "0000095242" "ATL1" "0000095243" "ATL1" "0000095244" "ATL1" "0000095245" "ATL1" "0000095246" "ATL1" "0000095247" "ATL1" "0000095248" "ATL1" "0000095249" "ATL1" "0000095250" "ATL1" "0000095251" "ATL1" "0000095252" "ATL1" "0000095253" "ATL1" "0000095254" "ATL1" "0000095255" "ATL1" "0000095256" "ATL1" "0000095257" "ATL1" "0000095258" "ATL1" "0000095259" "ATL1" "0000095260" "ATL1" "0000095261" "ATL1" "0000095262" "ATL1" "0000095263" "ATL1" "0000095264" "ATL1" "0000095265" "ATL1" "0000095266" "ATL1" "0000095267" "ATL1" "0000095268" "ATL1" "0000095269" "ATL1" "0000095270" "ATL1" "0000095271" "ATL1" "0000095272" "ATL1" "0000095273" "ATL1" "0000095274" "ATL1" "0000095275" "ATL1" "0000095276" "ATL1" "0000095277" "ATL1" "0000095278" "ATL1" "0000095279" "ATL1" "0000095280" "ATL1" "0000095281" "ATL1" "0000095282" "ATL1" "0000095283" "ATL1" "0000095284" "ATL1" "0000095285" "ATL1" "0000095286" "ATL1" "0000095287" "ATL1" "0000095288" "ATL1" "0000095289" "ATL1" "0000095290" "ATL1" "0000095291" "ATL1" "0000095292" "ATL1" "0000095293" "ATL1" "0000095294" "ATL1" "0000095295" "ATL1" "0000095296" "ATL1" "0000095297" "ATL1" "0000095298" "ATL1" "0000095299" "ATL1" "0000095300" "ATL1" "0000095301" "ATL1" "0000095302" "ATL1" "0000095303" "ATL1" "0000095304" "ATL1" "0000095305" "ATL1" "0000095306" "ATL1" "0000095307" "ATL1" "0000095308" "ATL1" "0000095309" "ATL1" "0000095310" "ATL1" "0000095311" "ATL1" "0000095312" "ATL1" "0000095313" "ATL1" "0000095314" "ATL1" "0000095315" "ATL1" "0000095316" "ATL1" "0000095317" "ATL1" "0000095318" "ATL1" "0000095319" "ATL1" "0000095320" "ATL1" "0000095321" "ATL1" "0000095322" "ATL1" "0000095323" "ATL1" "0000095324" "ATL1" "0000095325" "ATL1" "0000095326" "ATL1" "0000095327" "ATL1" "0000095328" "ATL1" "0000095329" "ATL1" "0000095330" "ATL1" "0000095331" "ATL1" "0000095332" "ATL1" "0000095333" "ATL1" "0000095334" "ATL1" "0000095335" "ATL1" "0000095336" "ATL1" "0000095337" "ATL1" "0000095338" "ATL1" "0000095339" "ATL1" "0000095340" "ATL1" "0000095341" "ATL1" "0000095342" "ATL1" "0000095343" "ATL1" "0000095344" "ATL1" "0000095345" "ATL1" "0000095346" "ATL1" "0000095347" "ATL1" "0000156104" "ATL1" "0000156104" "SPAST" "0000453277" "ATL1" ## 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 = 809 "{{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}}" "0000022935" "3" "75" "14" "51057729" "51057729" "subst" "0" "00559" "ATL1_000051" "g.51057729G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591011G>A" "" "likely pathogenic" "" "0000075863" "0" "50" "14" "51095112" "51095112" "subst" "4.06316E-6" "01330" "ATL1_000017" "g.51095112C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50628394C>T" "" "VUS" "" "0000088051" "1" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "00006" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000088056" "1" "90" "14" "51058305" "51058305" "subst" "0" "00006" "ATL1_000023" "g.51058305T>G" "" "{PMID:Rainier 2006:16533974}" "" "" "" "De novo" "yes" "" "0" "" "" "g.50591587T>G" "" "pathogenic" "" "0000088063" "1" "90" "14" "51079996" "51079996" "subst" "0" "00006" "ATL1_000004" "g.51079996G>A" "" "{PMID:Muglia 2002:12112092}" "" "818G>A (Arg217Gln)" "" "Germline" "yes" "" "0" "" "" "g.50613278G>A" "" "pathogenic" "" "0000088088" "3" "90" "14" "51094873" "51094873" "subst" "4.06458E-6" "00006" "ATL1_000050" "g.51094873G>A" "" "{PMID:Varga 2013:23483706}" "MspI-" "1244A>G" "" "Germline" "yes" "" "0" "" "" "g.50628155G>A" "" "pathogenic" "" "0000090064" "11" "90" "14" "51058287" "51058287" "subst" "0" "01552" "ATL1_000012" "g.51058287T>C" "" "" "" "" "variant present in affected index and his father, absent in his mother" "Germline" "yes" "" "0" "" "" "g.50591569T>C" "" "pathogenic" "" "0000153198" "0" "90" "14" "51058323" "51058323" "subst" "0" "01500" "ATL1_000052" "g.51058323T>C" "" "{PMID:de Bot 2013:23108492}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50591605T>C" "" "pathogenic" "" "0000153199" "21" "90" "14" "51058323" "51058323" "subst" "0" "01500" "ATL1_000052" "g.51058323T>C" "" "{PMID:de Bot 2013:23108492}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591605T>C" "" "pathogenic" "" "0000153200" "21" "90" "14" "51058323" "51058323" "subst" "0" "01500" "ATL1_000052" "g.51058323T>C" "" "{PMID:de Bot 2013:23108492}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591605T>C" "" "pathogenic" "" "0000153201" "0" "90" "14" "51088595" "51088595" "subst" "0" "01500" "ATL1_000053" "g.51088595C>A" "" "{PMID:de Bot 2013:23108492}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50621877C>A" "" "pathogenic" "" "0000153202" "11" "90" "14" "51088595" "51088595" "subst" "0" "01500" "ATL1_000053" "g.51088595C>A" "" "{PMID:de Bot 2013:23108492}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50621877C>A" "" "pathogenic" "" "0000153203" "0" "90" "14" "51095134" "51095135" "del" "0" "01500" "ATL1_000054" "g.51095134_51095135del" "" "{PMID:de Bot 2013:23108492}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628416_50628417del" "" "pathogenic" "" "0000153204" "21" "90" "14" "51095134" "51095135" "del" "0" "01500" "ATL1_000054" "g.51095134_51095135del" "" "{PMID:de Bot 2013:23108492}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628416_50628417del" "" "pathogenic" "" "0000153205" "21" "90" "14" "51095134" "51095135" "del" "0" "01500" "ATL1_000054" "g.51095134_51095135del" "" "{PMID:de Bot 2013:23108492}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628416_50628417del" "" "pathogenic" "" "0000153206" "21" "90" "14" "51095134" "51095135" "del" "0" "01500" "ATL1_000054" "g.51095134_51095135del" "" "{PMID:de Bot 2013:23108492}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628416_50628417del" "" "pathogenic" "" "0000153207" "21" "90" "14" "51095134" "51095135" "del" "0" "01500" "ATL1_000054" "g.51095134_51095135del" "" "{PMID:de Bot 2013:23108492}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628416_50628417del" "" "pathogenic" "" "0000153208" "11" "90" "14" "51095134" "51095135" "del" "0" "01500" "ATL1_000054" "g.51095134_51095135del" "" "{PMID:de Bot 2013:23108492}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628416_50628417del" "" "pathogenic" "" "0000153209" "0" "90" "14" "51058293" "51058293" "subst" "0" "01500" "ATL1_000055" "g.51058293G>C" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591575G>C" "" "pathogenic" "" "0000153210" "0" "90" "14" "51058293" "51058293" "subst" "0" "01500" "ATL1_000055" "g.51058293G>C" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591575G>C" "" "pathogenic" "" "0000153211" "0" "90" "14" "51058293" "51058293" "subst" "0" "01500" "ATL1_000055" "g.51058293G>C" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591575G>C" "" "pathogenic" "" "0000153212" "0" "90" "14" "51058308" "51058308" "subst" "0" "01500" "ATL1_000056" "g.51058308G>C" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591590G>C" "" "pathogenic" "" "0000153213" "0" "90" "14" "51058308" "51058308" "subst" "0" "01500" "ATL1_000056" "g.51058308G>C" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591590G>C" "" "pathogenic" "" "0000153214" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153215" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153216" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153217" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153218" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153219" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153220" "0" "90" "14" "51081097" "51081097" "subst" "0" "01500" "ATL1_000057" "g.51081097G>A" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614379G>A" "" "pathogenic" "" "0000153221" "0" "90" "14" "51081097" "51081097" "subst" "0" "01500" "ATL1_000057" "g.51081097G>A" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614379G>A" "" "pathogenic" "" "0000153222" "0" "90" "14" "51081107" "51081107" "subst" "0" "01500" "ATL1_000039" "g.51081107A>G" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614389A>G" "" "pathogenic" "" "0000153223" "0" "90" "14" "51081107" "51081107" "subst" "0" "01500" "ATL1_000039" "g.51081107A>G" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614389A>G" "" "pathogenic" "" "0000153224" "0" "90" "14" "51081107" "51081107" "subst" "0" "01500" "ATL1_000039" "g.51081107A>G" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614389A>G" "" "pathogenic" "" "0000153225" "0" "90" "14" "51088568" "51088568" "subst" "0" "01500" "ATL1_000058" "g.51088568T>A" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50621850T>A" "" "pathogenic" "" "0000153226" "0" "90" "14" "51088568" "51088568" "subst" "0" "01500" "ATL1_000058" "g.51088568T>A" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50621850T>A" "" "pathogenic" "" "0000153227" "0" "90" "14" "51088568" "51088568" "subst" "0" "01500" "ATL1_000058" "g.51088568T>A" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50621850T>A" "" "pathogenic" "" "0000153228" "0" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153229" "0" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153230" "0" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153231" "0" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153232" "0" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153233" "0" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153234" "0" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153235" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153236" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153237" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153238" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153239" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153240" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153241" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153242" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Elert-Dobkowska 2015:26671083}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153243" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Loureiro 2013:23400676}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153244" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Loureiro 2013:23400676}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153245" "0" "90" "14" "51088576" "51088576" "subst" "0" "01500" "ATL1_000026" "g.51088576T>C" "" "{PMID:Loureiro 2013:23400676}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50621858T>C" "" "pathogenic" "" "0000153246" "0" "90" "14" "51088576" "51088576" "subst" "0" "01500" "ATL1_000026" "g.51088576T>C" "" "{PMID:Loureiro 2013:23400676}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50621858T>C" "" "pathogenic" "" "0000153247" "0" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Ishiura 2014:24451228}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153248" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Ishiura 2014:24451228}" "" "" "" "De novo" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153249" "0" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Guelly 2011:21194679}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153250" "0" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Guelly 2011:21194679}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153251" "0" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Guelly 2011:21194679}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153252" "0" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Guelly 2011:21194679}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153253" "0" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Guelly 2011:21194679}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153254" "0" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Guelly 2011:21194679}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153255" "0" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Guelly 2011:21194679}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153256" "0" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Guelly 2011:21194679}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153257" "0" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Guelly 2011:21194679}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153258" "0" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Guelly 2011:21194679}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153259" "0" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Guelly 2011:21194679}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153260" "0" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Guelly 2011:21194679}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153261" "0" "90" "14" "51087430" "51087430" "del" "0" "01500" "ATL1_000046" "g.51087430del" "" "{PMID:Guelly 2011:21194679}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50620712del" "" "pathogenic" "" "0000153262" "11" "90" "14" "51087430" "51087430" "del" "0" "01500" "ATL1_000046" "g.51087430del" "" "{PMID:Guelly 2011:21194679}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50620712del" "" "pathogenic" "" "0000153263" "0" "90" "14" "51054710" "51054710" "subst" "6.90327E-5" "01500" "ATL1_000047" "g.51054710G>C" "" "{PMID:Guelly 2011:21194679}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50587992G>C" "" "pathogenic" "" "0000153264" "21" "90" "14" "51054710" "51054710" "subst" "6.90327E-5" "01500" "ATL1_000047" "g.51054710G>C" "" "{PMID:Guelly 2011:21194679}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50587992G>C" "" "pathogenic" "" "0000153265" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153266" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153267" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153268" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153269" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153270" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153271" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153272" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153273" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153274" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153275" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153276" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153277" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153278" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153279" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153280" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153281" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153282" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153283" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153284" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153285" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153286" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153287" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153288" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153289" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153290" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153291" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153292" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Abel 2004:15517445}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153293" "0" "90" "14" "51058287" "51058287" "subst" "0" "01500" "ATL1_000012" "g.51058287T>C" "" "{PMID:Abel 2004:15517445}" "" "F151S" "" "Germline" "yes" "" "0" "" "" "g.50591569T>C" "" "pathogenic" "" "0000153294" "0" "90" "14" "51058287" "51058287" "subst" "0" "01500" "ATL1_000012" "g.51058287T>C" "" "{PMID:Abel 2004:15517445}" "" "F151S" "" "Germline" "yes" "" "0" "" "" "g.50591569T>C" "" "pathogenic" "" "0000153295" "0" "90" "14" "51058287" "51058287" "subst" "0" "01500" "ATL1_000012" "g.51058287T>C" "" "{PMID:Abel 2004:15517445}" "" "F151S" "" "Germline" "yes" "" "0" "" "" "g.50591569T>C" "" "pathogenic" "" "0000153296" "0" "90" "14" "51058287" "51058287" "subst" "0" "01500" "ATL1_000012" "g.51058287T>C" "" "{PMID:Abel 2004:15517445}" "" "F151S" "" "Germline" "yes" "" "0" "" "" "g.50591569T>C" "" "pathogenic" "" "0000153297" "0" "90" "14" "51058287" "51058287" "subst" "0" "01500" "ATL1_000012" "g.51058287T>C" "" "{PMID:Abel 2004:15517445}" "" "F151S" "" "Germline" "yes" "" "0" "" "" "g.50591569T>C" "" "pathogenic" "" "0000153298" "0" "90" "14" "51058287" "51058287" "subst" "0" "01500" "ATL1_000012" "g.51058287T>C" "" "{PMID:Abel 2004:15517445}" "" "F151S" "" "Germline" "yes" "" "0" "" "" "g.50591569T>C" "" "pathogenic" "" "0000153299" "0" "90" "14" "51058287" "51058287" "subst" "0" "01500" "ATL1_000012" "g.51058287T>C" "" "{PMID:Abel 2004:15517445}" "" "F151S" "" "Germline" "yes" "" "0" "" "" "g.50591569T>C" "" "pathogenic" "" "0000153300" "0" "90" "14" "51058287" "51058287" "subst" "0" "01500" "ATL1_000012" "g.51058287T>C" "" "{PMID:Abel 2004:15517445}" "" "F151S" "" "Germline" "yes" "" "0" "" "" "g.50591569T>C" "" "pathogenic" "" "0000153301" "0" "90" "14" "51058287" "51058287" "subst" "0" "01500" "ATL1_000012" "g.51058287T>C" "" "{PMID:Abel 2004:15517445}" "" "F151S" "" "Germline" "yes" "" "0" "" "" "g.50591569T>C" "" "pathogenic" "" "0000153302" "0" "90" "14" "51058287" "51058287" "subst" "0" "01500" "ATL1_000012" "g.51058287T>C" "" "{PMID:Abel 2004:15517445}" "" "F151S" "" "Germline" "yes" "" "0" "" "" "g.50591569T>C" "" "pathogenic" "" "0000153303" "0" "90" "14" "51058287" "51058287" "subst" "0" "01500" "ATL1_000012" "g.51058287T>C" "" "{PMID:Abel 2004:15517445}" "" "F151S" "" "Germline" "yes" "" "0" "" "" "g.50591569T>C" "" "pathogenic" "" "0000153304" "0" "90" "14" "51058316" "51058316" "subst" "0" "01500" "ATL1_000008" "g.51058316G>C" "" "{PMID:Abel 2004:15517445}" "" "A161P" "" "Germline" "yes" "" "0" "" "" "g.50591598G>C" "" "pathogenic" "" "0000153305" "0" "90" "14" "51058316" "51058316" "subst" "0" "01500" "ATL1_000008" "g.51058316G>C" "" "{PMID:Abel 2004:15517445}" "" "A161P" "" "Germline" "yes" "" "0" "" "" "g.50591598G>C" "" "pathogenic" "" "0000153306" "0" "90" "14" "51058316" "51058316" "subst" "0" "01500" "ATL1_000008" "g.51058316G>C" "" "{PMID:Abel 2004:15517445}" "" "A161P" "" "Germline" "yes" "" "0" "" "" "g.50591598G>C" "" "pathogenic" "" "0000153307" "0" "90" "14" "51058316" "51058316" "subst" "0" "01500" "ATL1_000008" "g.51058316G>C" "" "{PMID:Abel 2004:15517445}" "" "A161P" "" "Germline" "yes" "" "0" "" "" "g.50591598G>C" "" "pathogenic" "" "0000153308" "0" "90" "14" "51058316" "51058316" "subst" "0" "01500" "ATL1_000008" "g.51058316G>C" "" "{PMID:Abel 2004:15517445}" "" "A161P" "" "Germline" "yes" "" "0" "" "" "g.50591598G>C" "" "pathogenic" "" "0000153309" "0" "90" "14" "51058316" "51058316" "subst" "0" "01500" "ATL1_000008" "g.51058316G>C" "" "{PMID:Abel 2004:15517445}" "" "A161P" "" "Germline" "yes" "" "0" "" "" "g.50591598G>C" "" "pathogenic" "" "0000153310" "0" "90" "14" "51058316" "51058316" "subst" "0" "01500" "ATL1_000008" "g.51058316G>C" "" "{PMID:Abel 2004:15517445}" "" "A161P" "" "Germline" "yes" "" "0" "" "" "g.50591598G>C" "" "pathogenic" "" "0000153311" "0" "90" "14" "51079996" "51079996" "subst" "0" "01500" "ATL1_000004" "g.51079996G>A" "" "{PMID:Abel 2004:15517445}" "" "R217Q" "" "Germline" "yes" "" "0" "" "" "g.50613278G>A" "" "pathogenic" "" "0000153312" "0" "90" "14" "51079996" "51079996" "subst" "0" "01500" "ATL1_000004" "g.51079996G>A" "" "{PMID:Abel 2004:15517445}" "" "R217Q" "" "Germline" "yes" "" "0" "" "" "g.50613278G>A" "" "pathogenic" "" "0000153313" "0" "90" "14" "51079996" "51079996" "subst" "0" "01500" "ATL1_000004" "g.51079996G>A" "" "{PMID:Abel 2004:15517445}" "" "R217Q" "" "Germline" "yes" "" "0" "" "" "g.50613278G>A" "" "pathogenic" "" "0000153314" "0" "90" "14" "51079996" "51079996" "subst" "0" "01500" "ATL1_000004" "g.51079996G>A" "" "{PMID:Abel 2004:15517445}" "" "R217Q" "" "Germline" "yes" "" "0" "" "" "g.50613278G>A" "" "pathogenic" "" "0000153315" "0" "90" "14" "51079996" "51079996" "subst" "0" "01500" "ATL1_000004" "g.51079996G>A" "" "{PMID:Abel 2004:15517445}" "" "R217Q" "" "Germline" "yes" "" "0" "" "" "g.50613278G>A" "" "pathogenic" "" "0000153316" "0" "90" "14" "51079996" "51079996" "subst" "0" "01500" "ATL1_000004" "g.51079996G>A" "" "{PMID:Abel 2004:15517445}" "" "R217Q" "" "Germline" "yes" "" "0" "" "" "g.50613278G>A" "" "pathogenic" "" "0000153317" "0" "90" "14" "51079996" "51079996" "subst" "0" "01500" "ATL1_000004" "g.51079996G>A" "" "{PMID:Abel 2004:15517445}" "" "R217Q" "" "Germline" "yes" "" "0" "" "" "g.50613278G>A" "" "pathogenic" "" "0000153318" "0" "90" "14" "51079996" "51079996" "subst" "0" "01500" "ATL1_000004" "g.51079996G>A" "" "{PMID:Abel 2004:15517445}" "" "R217Q" "" "Germline" "yes" "" "0" "" "" "g.50613278G>A" "" "pathogenic" "" "0000153319" "0" "90" "14" "51079996" "51079996" "subst" "0" "01500" "ATL1_000004" "g.51079996G>A" "" "{PMID:Abel 2004:15517445}" "" "R217Q" "" "Germline" "yes" "" "0" "" "" "g.50613278G>A" "" "pathogenic" "" "0000153320" "0" "90" "14" "51079996" "51079996" "subst" "0" "01500" "ATL1_000004" "g.51079996G>A" "" "{PMID:Abel 2004:15517445}" "" "R217Q" "" "Germline" "yes" "" "0" "" "" "g.50613278G>A" "" "pathogenic" "" "0000153321" "0" "90" "14" "51079996" "51079996" "subst" "0" "01500" "ATL1_000004" "g.51079996G>A" "" "{PMID:Abel 2004:15517445}" "" "R217Q" "" "Germline" "yes" "" "0" "" "" "g.50613278G>A" "" "pathogenic" "" "0000153322" "0" "90" "14" "51081107" "51081107" "subst" "0" "01500" "ATL1_000009" "g.51081107A>C" "" "{PMID:Abel 2004:15517445}" "" "H247P" "" "Germline" "yes" "" "0" "" "" "g.50614389A>C" "" "pathogenic" "" "0000153323" "0" "90" "14" "51081107" "51081107" "subst" "0" "01500" "ATL1_000009" "g.51081107A>C" "" "{PMID:Abel 2004:15517445}" "" "H247P" "" "Germline" "yes" "" "0" "" "" "g.50614389A>C" "" "pathogenic" "" "0000153324" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Abel 2004:15517445}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153325" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000003" "g.51081143C>A" "" "{PMID:Abel 2004:15517445}" "" "S259Y" "" "Germline" "yes" "" "0" "" "" "g.50614425C>A" "" "pathogenic" "" "0000153326" "0" "90" "14" "51087398" "51087398" "subst" "0" "01500" "ATL1_000013" "g.51087398T>G" "" "{PMID:Abel 2004:15517445}" "" "I315S" "" "Germline" "yes" "" "0" "" "" "g.50620680T>G" "" "pathogenic" "" "0000153327" "0" "90" "14" "51094822" "51094822" "subst" "0" "01500" "ATL1_000014" "g.51094822C>A" "" "{PMID:Abel 2004:15517445}" "" "S298Y" "" "Germline" "yes" "" "0" "" "" "g.50628104C>A" "" "pathogenic" "" "0000153328" "0" "90" "14" "51094822" "51094822" "subst" "0" "01500" "ATL1_000014" "g.51094822C>A" "" "{PMID:Abel 2004:15517445}" "" "S298Y" "" "Germline" "yes" "" "0" "" "" "g.50628104C>A" "" "pathogenic" "" "0000153329" "0" "90" "14" "51094822" "51094822" "subst" "0" "01500" "ATL1_000014" "g.51094822C>A" "" "{PMID:Abel 2004:15517445}" "" "S298Y" "" "Germline" "yes" "" "0" "" "" "g.50628104C>A" "" "pathogenic" "" "0000153330" "0" "90" "14" "51094822" "51094822" "subst" "0" "01500" "ATL1_000014" "g.51094822C>A" "" "{PMID:Abel 2004:15517445}" "" "S298Y" "" "Germline" "yes" "" "0" "" "" "g.50628104C>A" "" "pathogenic" "" "0000153331" "0" "90" "14" "51094822" "51094822" "subst" "0" "01500" "ATL1_000014" "g.51094822C>A" "" "{PMID:Abel 2004:15517445}" "" "S298Y" "" "Germline" "yes" "" "0" "" "" "g.50628104C>A" "" "pathogenic" "" "0000153332" "0" "90" "14" "51094822" "51094822" "subst" "0" "01500" "ATL1_000014" "g.51094822C>A" "" "{PMID:Abel 2004:15517445}" "" "S298Y" "" "Germline" "yes" "" "0" "" "" "g.50628104C>A" "" "pathogenic" "" "0000153333" "0" "90" "14" "51094822" "51094822" "subst" "0" "01500" "ATL1_000014" "g.51094822C>A" "" "{PMID:Abel 2004:15517445}" "" "S298Y" "" "Germline" "yes" "" "0" "" "" "g.50628104C>A" "" "pathogenic" "" "0000153334" "0" "90" "14" "51094822" "51094822" "subst" "0" "01500" "ATL1_000014" "g.51094822C>A" "" "{PMID:Abel 2004:15517445}" "" "S298Y" "" "Germline" "yes" "" "0" "" "" "g.50628104C>A" "" "pathogenic" "" "0000153335" "0" "90" "14" "51094822" "51094822" "subst" "0" "01500" "ATL1_000014" "g.51094822C>A" "" "{PMID:Abel 2004:15517445}" "" "S298Y" "" "Germline" "yes" "" "0" "" "" "g.50628104C>A" "" "pathogenic" "" "0000153336" "0" "90" "14" "51094822" "51094822" "subst" "0" "01500" "ATL1_000014" "g.51094822C>A" "" "{PMID:Abel 2004:15517445}" "" "S298Y" "" "Germline" "yes" "" "0" "" "" "g.50628104C>A" "" "pathogenic" "" "0000153337" "0" "90" "14" "51094822" "51094822" "subst" "0" "01500" "ATL1_000014" "g.51094822C>A" "" "{PMID:Abel 2004:15517445}" "" "S298Y" "" "Germline" "yes" "" "0" "" "" "g.50628104C>A" "" "pathogenic" "" "0000153338" "0" "90" "14" "51095150" "51095150" "dup" "0" "01500" "ATL1_000059" "g.51095150dup" "" "{PMID:Abel 2004:15517445}" "" "1520insA" "" "Germline" "yes" "" "0" "" "" "g.50628432dup" "" "pathogenic" "" "0000153339" "0" "90" "14" "51095150" "51095150" "dup" "0" "01500" "ATL1_000059" "g.51095150dup" "" "{PMID:Abel 2004:15517445}" "" "1520insA" "" "Germline" "yes" "" "0" "" "" "g.50628432dup" "" "pathogenic" "" "0000153340" "0" "90" "14" "51095150" "51095150" "dup" "0" "01500" "ATL1_000059" "g.51095150dup" "" "{PMID:Abel 2004:15517445}" "" "1520insA" "" "Germline" "yes" "" "0" "" "" "g.50628432dup" "" "pathogenic" "" "0000153341" "0" "90" "14" "51095150" "51095150" "dup" "0" "01500" "ATL1_000059" "g.51095150dup" "" "{PMID:Abel 2004:15517445}" "" "1520insA" "" "Germline" "yes" "" "0" "" "" "g.50628432dup" "" "pathogenic" "" "0000153342" "0" "90" "14" "51095150" "51095150" "dup" "0" "01500" "ATL1_000059" "g.51095150dup" "" "{PMID:Abel 2004:15517445}" "" "1520insA" "" "Germline" "yes" "" "0" "" "" "g.50628432dup" "" "pathogenic" "" "0000153343" "0" "90" "14" "51095150" "51095150" "dup" "0" "01500" "ATL1_000059" "g.51095150dup" "" "{PMID:Abel 2004:15517445}" "" "1520insA" "" "Germline" "yes" "" "0" "" "" "g.50628432dup" "" "pathogenic" "" "0000153344" "0" "90" "14" "51095150" "51095150" "dup" "0" "01500" "ATL1_000059" "g.51095150dup" "" "{PMID:Abel 2004:15517445}" "" "1520insA" "" "Germline" "yes" "" "0" "" "" "g.50628432dup" "" "pathogenic" "" "0000153345" "0" "90" "14" "51095150" "51095150" "dup" "0" "01500" "ATL1_000059" "g.51095150dup" "" "{PMID:Abel 2004:15517445}" "" "1520insA" "" "Germline" "yes" "" "0" "" "" "g.50628432dup" "" "pathogenic" "" "0000153346" "0" "90" "14" "51095150" "51095150" "dup" "0" "01500" "ATL1_000059" "g.51095150dup" "" "{PMID:Abel 2004:15517445}" "" "1520insA" "" "Germline" "yes" "" "0" "" "" "g.50628432dup" "" "pathogenic" "" "0000153347" "0" "90" "14" "51058293" "51058293" "subst" "0" "01500" "ATL1_000055" "g.51058293G>C" "" "{PMID:Dufke 2012:22552817}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591575G>C" "" "pathogenic" "" "0000153348" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Dufke 2012:22552817}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153349" "0" "90" "14" "51088594" "51088594" "subst" "0" "01500" "ATL1_000060" "g.51088594C>T" "" "{PMID:Dufke 2012:22552817}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50621876C>T" "" "pathogenic" "" "0000153350" "0" "90" "14" "51057727" "51057727" "subst" "0.763822" "01500" "ATL1_000060" "g.51057727G>A" "" "{PMID:Dufke 2012:22552817}" "" "" "" "Germline" "yes" "rs1060197" "0" "" "" "g.50591009G>A" "" "pathogenic" "" "0000153351" "0" "90" "14" "51057727" "51057727" "subst" "0.763822" "01500" "ATL1_000060" "g.51057727G>A" "" "{PMID:Dufke 2012:22552817}" "" "" "" "Germline" "yes" "rs1060197" "0" "" "" "g.50591009G>A" "" "pathogenic" "" "0000153352" "0" "90" "14" "51057727" "51057727" "subst" "0.763822" "01500" "ATL1_000060" "g.51057727G>A" "" "{PMID:Dufke 2012:22552817}" "" "" "" "Germline" "yes" "rs1060197" "0" "" "" "g.50591009G>A" "" "pathogenic" "" "0000153353" "0" "90" "14" "51057727" "51057727" "subst" "0.763822" "01500" "ATL1_000060" "g.51057727G>A" "" "{PMID:Dufke 2012:22552817}" "" "" "" "Germline" "yes" "rs1060197" "0" "" "" "g.50591009G>A" "" "pathogenic" "" "0000153354" "0" "90" "14" "51057727" "51057727" "subst" "0.763822" "01500" "ATL1_000060" "g.51057727G>A" "" "{PMID:Dufke 2012:22552817}" "" "" "" "Germline" "yes" "rs1060197" "0" "" "" "g.50591009G>A" "" "pathogenic" "" "0000153355" "0" "90" "14" "51057727" "51057727" "subst" "0.763822" "01500" "ATL1_000060" "g.51057727G>A" "" "{PMID:Dufke 2012:22552817}" "" "" "" "Germline" "yes" "rs1060197" "0" "" "" "g.50591009G>A" "" "pathogenic" "" "0000153356" "0" "90" "14" "51057727" "51057727" "subst" "0.763822" "01500" "ATL1_000060" "g.51057727G>A" "" "{PMID:Dufke 2012:22552817}" "" "" "" "Germline" "yes" "rs1060197" "0" "" "" "g.50591009G>A" "" "pathogenic" "" "0000153357" "0" "90" "14" "51057727" "51057727" "subst" "0.763822" "01500" "ATL1_000060" "g.51057727G>A" "" "{PMID:Dufke 2012:22552817}" "" "" "" "Germline" "yes" "rs1060197" "0" "" "" "g.50591009G>A" "" "pathogenic" "" "0000153358" "0" "90" "14" "51054598" "51054598" "subst" "0.130805" "01500" "ATL1_000061" "g.51054598A>G" "" "{PMID:Dufke 2012:22552817}" "" "" "" "Germline" "yes" "rs35014209" "0" "" "" "g.50587880A>G" "" "pathogenic" "" "0000153359" "0" "90" "14" "51054598" "51054598" "subst" "0.130805" "01500" "ATL1_000061" "g.51054598A>G" "" "{PMID:Dufke 2012:22552817}" "" "" "" "Germline" "yes" "rs35014209" "0" "" "" "g.50587880A>G" "" "pathogenic" "" "0000153360" "0" "90" "14" "51062357" "51062357" "subst" "0.129149" "01500" "ATL1_000062" "g.51062357G>A" "" "{PMID:Dufke 2012:22552817}" "" "" "" "Germline" "yes" "rs3759588" "0" "" "" "g.50595639G>A" "" "pathogenic" "" "0000153361" "0" "90" "14" "51062357" "51062357" "subst" "0.129149" "01500" "ATL1_000062" "g.51062357G>A" "" "{PMID:Dufke 2012:22552817}" "" "" "" "Germline" "yes" "rs3759588" "0" "" "" "g.50595639G>A" "" "pathogenic" "" "0000153362" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153363" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153364" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153365" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153366" "0" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153367" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153368" "0" "90" "14" "51058295" "51058295" "subst" "0" "01500" "ATL1_000044" "g.51058295C>G" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "De novo" "yes" "" "0" "" "" "g.50591577C>G" "" "pathogenic" "" "0000153369" "11" "90" "14" "51058295" "51058295" "subst" "0" "01500" "ATL1_000044" "g.51058295C>G" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591577C>G" "" "pathogenic" "" "0000153370" "0" "90" "14" "51081133" "51081133" "subst" "0" "01500" "ATL1_000063" "g.51081133C>A" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50614415C>A" "" "pathogenic" "" "0000153371" "0" "90" "14" "51081133" "51081133" "subst" "0" "01500" "ATL1_000063" "g.51081133C>A" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50614415C>A" "" "pathogenic" "" "0000153372" "3" "90" "14" "51081133" "51081133" "subst" "0" "01500" "ATL1_000063" "g.51081133C>A" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614415C>A" "" "pathogenic" "" "0000153373" "3" "90" "14" "51081133" "51081133" "subst" "0" "01500" "ATL1_000063" "g.51081133C>A" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614415C>A" "" "pathogenic" "" "0000153374" "21" "90" "14" "51081133" "51081133" "subst" "0" "01500" "ATL1_000063" "g.51081133C>A" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614415C>A" "" "pathogenic" "" "0000153375" "21" "90" "14" "51081133" "51081133" "subst" "0" "01500" "ATL1_000063" "g.51081133C>A" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614415C>A" "" "pathogenic" "" "0000153376" "21" "90" "14" "51081133" "51081133" "subst" "0" "01500" "ATL1_000063" "g.51081133C>A" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614415C>A" "" "pathogenic" "" "0000153377" "21" "90" "14" "51081133" "51081133" "subst" "0" "01500" "ATL1_000063" "g.51081133C>A" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614415C>A" "" "pathogenic" "" "0000153378" "21" "90" "14" "51081133" "51081133" "subst" "0" "01500" "ATL1_000063" "g.51081133C>A" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614415C>A" "" "pathogenic" "" "0000153379" "21" "90" "14" "51081133" "51081133" "subst" "0" "01500" "ATL1_000063" "g.51081133C>A" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614415C>A" "" "pathogenic" "" "0000153380" "21" "90" "14" "51081133" "51081133" "subst" "0" "01500" "ATL1_000063" "g.51081133C>A" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614415C>A" "" "pathogenic" "" "0000153381" "21" "90" "14" "51081133" "51081133" "subst" "0" "01500" "ATL1_000063" "g.51081133C>A" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614415C>A" "" "pathogenic" "" "0000153382" "21" "90" "14" "51081133" "51081133" "subst" "0" "01500" "ATL1_000063" "g.51081133C>A" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614415C>A" "" "pathogenic" "" "0000153383" "0" "90" "14" "51094866" "51094866" "subst" "0" "01500" "ATL1_000043" "g.51094866T>G" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628148T>G" "" "pathogenic" "" "0000153384" "21" "90" "14" "51094866" "51094866" "subst" "0" "01500" "ATL1_000043" "g.51094866T>G" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628148T>G" "" "pathogenic" "" "0000153385" "0" "90" "14" "51081124" "51081124" "subst" "0" "01500" "ATL1_000020" "g.51081124G>A" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614406G>A" "" "pathogenic" "" "0000153386" "0" "90" "14" "51094948" "51094948" "subst" "0" "01500" "ATL1_000016" "g.51094948A>C" "" "{PMID:Álvarez 2010:20932283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628230A>C" "" "pathogenic" "" "0000153387" "0" "90" "14" "51058302" "51058302" "subst" "0" "01500" "ATL1_000011" "g.51058302C>T" "" "{PMID:Hedera 2004:15477516}" "" "C635T" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50591584C>T" "" "pathogenic" "" "0000153388" "11" "90" "14" "51058302" "51058302" "subst" "0" "01500" "ATL1_000011" "g.51058302C>T" "" "{PMID:Hedera 2004:15477516}" "" "C635T" "" "Germline" "yes" "" "0" "" "" "g.50591584C>T" "" "pathogenic" "" "0000153389" "11" "90" "14" "51058302" "51058302" "subst" "0" "01500" "ATL1_000011" "g.51058302C>T" "" "{PMID:Hedera 2004:15477516}" "" "C635T" "" "Germline" "yes" "" "0" "" "" "g.50591584C>T" "" "pathogenic" "" "0000153390" "11" "90" "14" "51058302" "51058302" "subst" "0" "01500" "ATL1_000011" "g.51058302C>T" "" "{PMID:Hedera 2004:15477516}" "" "C635T" "" "Germline" "yes" "" "0" "" "" "g.50591584C>T" "" "pathogenic" "" "0000153391" "11" "90" "14" "51058302" "51058302" "subst" "0" "01500" "ATL1_000011" "g.51058302C>T" "" "{PMID:Hedera 2004:15477516}" "" "C635T" "" "Germline" "yes" "" "0" "" "" "g.50591584C>T" "" "pathogenic" "" "0000153392" "11" "90" "14" "51058302" "51058302" "subst" "0" "01500" "ATL1_000011" "g.51058302C>T" "" "{PMID:Hedera 2004:15477516}" "" "C635T" "" "Germline" "yes" "" "0" "" "" "g.50591584C>T" "" "pathogenic" "" "0000153393" "0" "90" "14" "51079984" "51079984" "subst" "0" "01500" "ATL1_000064" "g.51079984T>C" "" "{PMID:Rainier 2006:16533974}" "" "L157W" "" "De novo" "yes" "" "0" "" "" "g.50613266T>C" "" "pathogenic" "" "0000153394" "21" "90" "14" "51079984" "51079984" "subst" "0" "01500" "ATL1_000064" "g.51079984T>C" "" "{PMID:Rainier 2006:16533974}" "" "L157W" "" "Germline" "yes" "" "0" "" "" "g.50613266T>C" "" "pathogenic" "" "0000153395" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Sauter 2004:14695538}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153396" "11" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Sauter 2004:14695538}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153397" "11" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Sauter 2004:14695538}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153398" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Sauter 2004:14695538}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153399" "11" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Sauter 2004:14695538}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153400" "0" "90" "14" "51058316" "51058316" "subst" "0" "01500" "ATL1_000008" "g.51058316G>C" "" "{PMID:Sauter 2004:14695538}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50591598G>C" "" "pathogenic" "" "0000153401" "21" "90" "14" "51058316" "51058316" "subst" "0" "01500" "ATL1_000008" "g.51058316G>C" "" "{PMID:Sauter 2004:14695538}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591598G>C" "" "pathogenic" "" "0000153402" "21" "90" "14" "51058316" "51058316" "subst" "0" "01500" "ATL1_000008" "g.51058316G>C" "" "{PMID:Sauter 2004:14695538}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591598G>C" "" "pathogenic" "" "0000153403" "21" "90" "14" "51058316" "51058316" "subst" "0" "01500" "ATL1_000008" "g.51058316G>C" "" "{PMID:Sauter 2004:14695538}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591598G>C" "" "pathogenic" "" "0000153404" "0" "90" "14" "51058316" "51058316" "subst" "0" "01500" "ATL1_000008" "g.51058316G>C" "" "{PMID:Sauter 2004:14695538}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50591598G>C" "" "pathogenic" "" "0000153405" "11" "90" "14" "51058316" "51058316" "subst" "0" "01500" "ATL1_000008" "g.51058316G>C" "" "{PMID:Sauter 2004:14695538}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591598G>C" "" "pathogenic" "" "0000153406" "11" "90" "14" "51058316" "51058316" "subst" "0" "01500" "ATL1_000008" "g.51058316G>C" "" "{PMID:Sauter 2004:14695538}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591598G>C" "" "pathogenic" "" "0000153407" "0" "90" "14" "51079996" "51079996" "subst" "0" "01500" "ATL1_000004" "g.51079996G>A" "" "{PMID:Sauter 2004:14695538}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50613278G>A" "" "pathogenic" "" "0000153408" "0" "90" "14" "51081107" "51081107" "subst" "0" "01500" "ATL1_000009" "g.51081107A>C" "" "{PMID:Sauter 2004:14695538}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50614389A>C" "" "pathogenic" "" "0000153409" "21" "90" "14" "51081107" "51081107" "subst" "0" "01500" "ATL1_000009" "g.51081107A>C" "" "{PMID:Sauter 2004:14695538}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614389A>C" "" "pathogenic" "" "0000153410" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Smith 2009:19459885}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153411" "0" "90" "14" "51081107" "51081107" "subst" "0" "01500" "ATL1_000039" "g.51081107A>G" "" "{PMID:Smith 2009:19459885}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614389A>G" "" "pathogenic" "" "0000153412" "0" "90" "14" "51081107" "51081107" "subst" "0" "01500" "ATL1_000039" "g.51081107A>G" "" "{PMID:Smith 2009:19459885}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614389A>G" "" "pathogenic" "" "0000153413" "0" "90" "14" "51081107" "51081107" "subst" "0" "01500" "ATL1_000039" "g.51081107A>G" "" "{PMID:Smith 2009:19459885}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614389A>G" "" "pathogenic" "" "0000153414" "0" "90" "14" "51058328" "51058328" "subst" "0" "01500" "ATL1_000037" "g.51058328G>A" "" "{PMID:Smith 2009:19459885}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50591610G>A" "" "pathogenic" "" "0000153415" "11" "90" "14" "51058328" "51058328" "subst" "0" "01500" "ATL1_000037" "g.51058328G>A" "" "{PMID:Smith 2009:19459885}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591610G>A" "" "pathogenic" "" "0000153416" "0" "90" "14" "51080062" "51080062" "subst" "0" "01500" "ATL1_000038" "g.51080062G>T" "" "{PMID:Smith 2009:19459885}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50613344G>T" "" "pathogenic" "" "0000153417" "11" "90" "14" "51080062" "51080062" "subst" "0" "01500" "ATL1_000038" "g.51080062G>T" "" "{PMID:Smith 2009:19459885}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613344G>T" "" "pathogenic" "" "0000153418" "0" "90" "14" "51080062" "51080062" "subst" "0" "01500" "ATL1_000038" "g.51080062G>T" "" "{PMID:Smith 2009:19459885}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50613344G>T" "" "pathogenic" "" "0000153419" "21" "90" "14" "51080062" "51080062" "subst" "0" "01500" "ATL1_000038" "g.51080062G>T" "" "{PMID:Smith 2009:19459885}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613344G>T" "" "pathogenic" "" "0000153420" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000036" "g.51081143C>T" "" "{PMID:Smith 2009:19459885}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614425C>T" "" "pathogenic" "" "0000153421" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000036" "g.51081143C>T" "" "{PMID:Smith 2009:19459885}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614425C>T" "" "pathogenic" "" "0000153422" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000036" "g.51081143C>T" "" "{PMID:Smith 2009:19459885}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614425C>T" "" "pathogenic" "" "0000153423" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000036" "g.51081143C>T" "" "{PMID:Smith 2009:19459885}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614425C>T" "" "pathogenic" "" "0000153424" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000036" "g.51081143C>T" "" "{PMID:Smith 2009:19459885}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614425C>T" "" "pathogenic" "" "0000153425" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000036" "g.51081143C>T" "" "{PMID:Smith 2009:19459885}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614425C>T" "" "pathogenic" "" "0000153426" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000036" "g.51081143C>T" "" "{PMID:Smith 2009:19459885}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614425C>T" "" "pathogenic" "" "0000153427" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153428" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153429" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153430" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153431" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153432" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153433" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153434" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153435" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153436" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153437" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153438" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153439" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153440" "0" "90" "14" "51088576" "51088576" "subst" "0" "01500" "ATL1_000026" "g.51088576T>C" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50621858T>C" "" "pathogenic" "" "0000153441" "0" "90" "14" "51088576" "51088576" "subst" "0" "01500" "ATL1_000026" "g.51088576T>C" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50621858T>C" "" "pathogenic" "" "0000153442" "0" "90" "14" "51058287" "51058287" "subst" "0" "01500" "ATL1_000012" "g.51058287T>C" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50591569T>C" "" "pathogenic" "" "0000153443" "0" "90" "14" "51058287" "51058287" "subst" "0" "01500" "ATL1_000012" "g.51058287T>C" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591569T>C" "" "pathogenic" "" "0000153444" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153445" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153446" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153447" "0" "90" "14" "51058305" "51058305" "subst" "0" "01500" "ATL1_000023" "g.51058305T>G" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50591587T>G" "" "pathogenic" "" "0000153448" "0" "90" "14" "51058305" "51058305" "subst" "0" "01500" "ATL1_000023" "g.51058305T>G" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591587T>G" "" "pathogenic" "" "0000153449" "0" "90" "14" "51060613" "51060613" "subst" "0" "01500" "ATL1_000031" "g.51060613A>G" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50593895A>G" "" "pathogenic" "" "0000153450" "0" "90" "14" "51060613" "51060613" "subst" "0" "01500" "ATL1_000031" "g.51060613A>G" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50593895A>G" "" "pathogenic" "" "0000153451" "0" "90" "14" "51060613" "51060613" "subst" "0" "01500" "ATL1_000031" "g.51060613A>G" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50593895A>G" "" "pathogenic" "" "0000153452" "0" "90" "14" "51060613" "51060613" "subst" "0" "01500" "ATL1_000031" "g.51060613A>G" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50593895A>G" "" "pathogenic" "" "0000153453" "0" "90" "14" "51081116" "51081116" "subst" "0" "01500" "ATL1_000032" "g.51081116T>C" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50614398T>C" "" "pathogenic" "" "0000153454" "0" "90" "14" "51081116" "51081116" "subst" "0" "01500" "ATL1_000032" "g.51081116T>C" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50614398T>C" "" "pathogenic" "" "0000153455" "0" "90" "14" "51081116" "51081116" "subst" "0" "01500" "ATL1_000032" "g.51081116T>C" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614398T>C" "" "pathogenic" "" "0000153456" "0" "90" "14" "51081116" "51081116" "subst" "0" "01500" "ATL1_000032" "g.51081116T>C" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614398T>C" "" "pathogenic" "" "0000153457" "0" "90" "14" "51081116" "51081116" "subst" "0" "01500" "ATL1_000032" "g.51081116T>C" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614398T>C" "" "pathogenic" "" "0000153458" "0" "90" "14" "51081116" "51081116" "subst" "0" "01500" "ATL1_000032" "g.51081116T>C" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614398T>C" "" "pathogenic" "" "0000153459" "0" "90" "14" "51081116" "51081116" "subst" "0" "01500" "ATL1_000032" "g.51081116T>C" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614398T>C" "" "pathogenic" "" "0000153460" "0" "90" "14" "51094852" "51094852" "subst" "0" "01500" "ATL1_000027" "g.51094852T>C" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "De novo" "yes" "" "0" "" "" "g.50628134T>C" "" "pathogenic" "" "0000153461" "0" "90" "14" "51095035" "51095035" "subst" "0" "01500" "ATL1_000028" "g.51095035G>C" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628317G>C" "" "pathogenic" "" "0000153462" "0" "90" "14" "51095035" "51095035" "subst" "0" "01500" "ATL1_000028" "g.51095035G>C" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628317G>C" "" "pathogenic" "" "0000153463" "0" "90" "14" "51095035" "51095035" "subst" "0" "01500" "ATL1_000028" "g.51095035G>C" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628317G>C" "" "pathogenic" "" "0000153464" "0" "90" "14" "51095035" "51095035" "subst" "0" "01500" "ATL1_000028" "g.51095035G>C" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628317G>C" "" "pathogenic" "" "0000153465" "0" "90" "14" "51095074" "51095074" "subst" "0" "01500" "ATL1_000029" "g.51095074G>T" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628356G>T" "" "pathogenic" "" "0000153466" "0" "90" "14" "51095074" "51095074" "subst" "0" "01500" "ATL1_000029" "g.51095074G>T" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628356G>T" "" "pathogenic" "" "0000153467" "0" "90" "14" "51095074" "51095074" "subst" "0" "01500" "ATL1_000029" "g.51095074G>T" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628356G>T" "" "pathogenic" "" "0000153468" "0" "90" "14" "51095074" "51095074" "subst" "0" "01500" "ATL1_000029" "g.51095074G>T" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628356G>T" "" "pathogenic" "" "0000153469" "0" "90" "14" "51095074" "51095074" "subst" "0" "01500" "ATL1_000029" "g.51095074G>T" "" "{PMID:Ivanova 2007:17502470}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628356G>T" "" "pathogenic" "" "0000153470" "0" "90" "14" "51095103" "51095103" "dup" "0" "01500" "ATL1_000030" "g.51095103dup" "" "{PMID:Ivanova 2007:17502470}" "" "1474_1475insG" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628385dup" "" "pathogenic" "" "0000153471" "0" "90" "14" "51095103" "51095103" "dup" "0" "01500" "ATL1_000030" "g.51095103dup" "" "{PMID:Ivanova 2007:17502470}" "" "1474_1475insG" "" "Germline" "yes" "" "0" "" "" "g.50628385dup" "" "pathogenic" "" "0000153472" "0" "90" "14" "51095103" "51095103" "dup" "0" "01500" "ATL1_000030" "g.51095103dup" "" "{PMID:Ivanova 2007:17502470}" "" "1474_1475insG" "" "Germline" "yes" "" "0" "" "" "g.50628385dup" "" "pathogenic" "" "0000153473" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:McCorquodale 2011:20718791}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153474" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:McCorquodale 2011:20718791}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153475" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:McCorquodale 2011:20718791}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153476" "0" "90" "14" "51081124" "51081124" "subst" "0" "01500" "ATL1_000020" "g.51081124G>A" "" "{PMID:McCorquodale 2011:20718791}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614406G>A" "" "pathogenic" "" "0000153477" "0" "90" "14" "51062307" "51062307" "subst" "0" "01500" "ATL1_000042" "g.51062307A>G" "" "{PMID:McCorquodale 2011:20718791}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50595589A>G" "" "pathogenic" "" "0000153478" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153479" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153480" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153481" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153482" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153483" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153484" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153485" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153486" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153487" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153488" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153489" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153490" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153491" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153492" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153493" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153494" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153495" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153496" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153497" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153498" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153499" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153500" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153501" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153502" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153503" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153504" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2001:11685207}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153505" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153506" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153507" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153508" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153509" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153510" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153511" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153512" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153513" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153514" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153515" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153516" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153517" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153518" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153519" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153520" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153521" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153522" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153523" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153524" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153525" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153526" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153527" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153528" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153529" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153530" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153531" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153532" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153533" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Zhao 2001:11685207}" "" "H258R" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153534" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000003" "g.51081143C>A" "" "{PMID:Zhao 2001:11685207}" "" "S259Y" "" "Germline" "yes" "" "0" "" "" "g.50614425C>A" "" "pathogenic" "" "0000153535" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000003" "g.51081143C>A" "" "{PMID:Zhao 2001:11685207}" "" "S259Y" "" "Germline" "yes" "" "0" "" "" "g.50614425C>A" "" "pathogenic" "" "0000153536" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000003" "g.51081143C>A" "" "{PMID:Zhao 2001:11685207}" "" "S259Y" "" "Germline" "yes" "" "0" "" "" "g.50614425C>A" "" "pathogenic" "" "0000153537" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000003" "g.51081143C>A" "" "{PMID:Zhao 2001:11685207}" "" "S259Y" "" "Germline" "yes" "" "0" "" "" "g.50614425C>A" "" "pathogenic" "" "0000153538" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000003" "g.51081143C>A" "" "{PMID:Zhao 2001:11685207}" "" "S259Y" "" "Germline" "yes" "" "0" "" "" "g.50614425C>A" "" "pathogenic" "" "0000153539" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000003" "g.51081143C>A" "" "{PMID:Zhao 2001:11685207}" "" "S259Y" "" "Germline" "yes" "" "0" "" "" "g.50614425C>A" "" "pathogenic" "" "0000153540" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000003" "g.51081143C>A" "" "{PMID:Zhao 2001:11685207}" "" "S259Y" "" "Germline" "yes" "" "0" "" "" "g.50614425C>A" "" "pathogenic" "" "0000153541" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000003" "g.51081143C>A" "" "{PMID:Zhao 2001:11685207}" "" "S259Y" "" "Germline" "yes" "" "0" "" "" "g.50614425C>A" "" "pathogenic" "" "0000153542" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000003" "g.51081143C>A" "" "{PMID:Zhao 2001:11685207}" "" "S259Y" "" "Germline" "yes" "" "0" "" "" "g.50614425C>A" "" "pathogenic" "" "0000153543" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000003" "g.51081143C>A" "" "{PMID:Zhao 2001:11685207}" "" "S259Y" "" "Germline" "yes" "" "0" "" "" "g.50614425C>A" "" "pathogenic" "" "0000153544" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000003" "g.51081143C>A" "" "{PMID:Zhao 2001:11685207}" "" "S259Y" "" "Germline" "yes" "" "0" "" "" "g.50614425C>A" "" "pathogenic" "" "0000153545" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000003" "g.51081143C>A" "" "{PMID:Zhao 2001:11685207}" "" "S259Y" "" "Germline" "yes" "" "0" "" "" "g.50614425C>A" "" "pathogenic" "" "0000153546" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000003" "g.51081143C>A" "" "{PMID:Zhao 2001:11685207}" "" "S259Y" "" "Germline" "yes" "" "0" "" "" "g.50614425C>A" "" "pathogenic" "" "0000153547" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000003" "g.51081143C>A" "" "{PMID:Zhao 2001:11685207}" "" "S259Y" "" "Germline" "yes" "" "0" "" "" "g.50614425C>A" "" "pathogenic" "" "0000153548" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000003" "g.51081143C>A" "" "{PMID:Zhao 2001:11685207}" "" "S259Y" "" "Germline" "yes" "" "0" "" "" "g.50614425C>A" "" "pathogenic" "" "0000153549" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000003" "g.51081143C>A" "" "{PMID:Zhao 2001:11685207}" "" "S259Y" "" "Germline" "yes" "" "0" "" "" "g.50614425C>A" "" "pathogenic" "" "0000153550" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000003" "g.51081143C>A" "" "{PMID:Zhao 2001:11685207}" "" "S259Y" "" "Germline" "yes" "" "0" "" "" "g.50614425C>A" "" "pathogenic" "" "0000153551" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000003" "g.51081143C>A" "" "{PMID:Zhao 2001:11685207}" "" "S259Y" "" "Germline" "yes" "" "0" "" "" "g.50614425C>A" "" "pathogenic" "" "0000153552" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Kwon 2010:20947813}" "" "R239C" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153553" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Kwon 2010:20947813}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153554" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Kwon 2010:20947813}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153555" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Kwon 2010:20947813}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153556" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Kwon 2010:20947813}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153557" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Kwon 2010:20947813}" "" "R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153558" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153559" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153560" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153561" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153562" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153563" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153564" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153565" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153566" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153567" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153568" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153569" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153570" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153571" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153572" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153573" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153574" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153575" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000003" "g.51081143C>A" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614425C>A" "" "pathogenic" "" "0000153576" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000003" "g.51081143C>A" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614425C>A" "" "pathogenic" "" "0000153577" "0" "90" "14" "51081143" "51081143" "subst" "0" "01500" "ATL1_000003" "g.51081143C>A" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614425C>A" "" "pathogenic" "" "0000153578" "0" "90" "14" "51094822" "51094822" "subst" "0" "01500" "ATL1_000014" "g.51094822C>A" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628104C>A" "" "pathogenic" "" "0000153579" "0" "90" "14" "51081124" "51081124" "subst" "0" "01500" "ATL1_000020" "g.51081124G>A" "" "{PMID:Dürr 2004:15596607}" "" "V253I" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50614406G>A" "" "pathogenic" "" "0000153580" "0" "90" "14" "51081124" "51081124" "subst" "0" "01500" "ATL1_000020" "g.51081124G>A" "" "{PMID:Dürr 2004:15596607}" "" "V253I" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50614406G>A" "" "pathogenic" "" "0000153581" "0" "90" "14" "51081124" "51081124" "subst" "0" "01500" "ATL1_000020" "g.51081124G>A" "" "{PMID:Dürr 2004:15596607}" "" "V253I" "" "Germline" "yes" "" "0" "" "" "g.50614406G>A" "" "pathogenic" "" "0000153582" "0" "90" "14" "51081124" "51081124" "subst" "0" "01500" "ATL1_000020" "g.51081124G>A" "" "{PMID:Dürr 2004:15596607}" "" "V253I" "" "Germline" "yes" "" "0" "" "" "g.50614406G>A" "" "pathogenic" "" "0000153583" "0" "90" "14" "51081124" "51081124" "subst" "0" "01500" "ATL1_000020" "g.51081124G>A" "" "{PMID:Dürr 2004:15596607}" "" "V253I" "" "Germline" "yes" "" "0" "" "" "g.50614406G>A" "" "pathogenic" "" "0000153584" "0" "90" "14" "51094948" "51094948" "subst" "0" "01500" "ATL1_000016" "g.51094948A>C" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628230A>C" "" "pathogenic" "" "0000153585" "0" "90" "14" "51094948" "51094948" "subst" "0" "01500" "ATL1_000016" "g.51094948A>C" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628230A>C" "" "pathogenic" "" "0000153586" "0" "90" "14" "51094948" "51094948" "subst" "0" "01500" "ATL1_000016" "g.51094948A>C" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628230A>C" "" "pathogenic" "" "0000153587" "0" "90" "14" "51081118" "51081118" "subst" "0" "01500" "ATL1_000019" "g.51081118C>A" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614400C>A" "" "pathogenic" "" "0000153588" "0" "90" "14" "51081118" "51081118" "subst" "0" "01500" "ATL1_000019" "g.51081118C>A" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614400C>A" "" "pathogenic" "" "0000153589" "0" "90" "14" "51081118" "51081118" "subst" "0" "01500" "ATL1_000019" "g.51081118C>A" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614400C>A" "" "pathogenic" "" "0000153590" "0" "90" "14" "51081118" "51081118" "subst" "0" "01500" "ATL1_000019" "g.51081118C>A" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614400C>A" "" "pathogenic" "" "0000153591" "0" "90" "14" "51081118" "51081118" "subst" "0" "01500" "ATL1_000019" "g.51081118C>A" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614400C>A" "" "pathogenic" "" "0000153592" "0" "90" "14" "51094866" "51094866" "subst" "0" "01500" "ATL1_000015" "g.51094866T>C" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628148T>C" "" "pathogenic" "" "0000153593" "0" "90" "14" "51094866" "51094866" "subst" "0" "01500" "ATL1_000015" "g.51094866T>C" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628148T>C" "" "pathogenic" "" "0000153594" "0" "90" "14" "51096717" "51096717" "subst" "2.10565E-5" "01500" "ATL1_000018" "g.51096717G>A" "" "{PMID:Dürr 2004:15596607}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50629999G>A" "" "pathogenic" "" "0000153595" "0" "90" "14" "51081124" "51081124" "subst" "0" "01500" "ATL1_000020" "g.51081124G>A" "" "{PMID:Klein 2014:24604904}" "" "p.253Val>Ile" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50614406G>A" "" "pathogenic" "" "0000153596" "21" "90" "14" "51081124" "51081124" "subst" "0" "01500" "ATL1_000020" "g.51081124G>A" "" "{PMID:Klein 2014:24604904}" "" "p.253Val>Ile" "" "Germline" "yes" "" "0" "" "" "g.50614406G>A" "" "pathogenic" "" "0000153597" "21" "90" "14" "51081124" "51081124" "subst" "0" "01500" "ATL1_000020" "g.51081124G>A" "" "{PMID:Klein 2014:24604904}" "" "p.253Val>Ile" "" "Germline" "yes" "" "0" "" "" "g.50614406G>A" "" "pathogenic" "" "0000153598" "11" "90" "14" "51081124" "51081124" "subst" "0" "01500" "ATL1_000020" "g.51081124G>A" "" "{PMID:Klein 2014:24604904}" "" "p.253Val>Ile" "" "Germline" "yes" "" "0" "" "" "g.50614406G>A" "" "pathogenic" "" "0000153599" "11" "90" "14" "51081124" "51081124" "subst" "0" "01500" "ATL1_000020" "g.51081124G>A" "" "{PMID:Klein 2014:24604904}" "" "p.253Val>Ile" "" "Germline" "yes" "" "0" "" "" "g.50614406G>A" "" "pathogenic" "" "0000153600" "11" "90" "14" "51081124" "51081124" "subst" "0" "01500" "ATL1_000020" "g.51081124G>A" "" "{PMID:Klein 2014:24604904}" "" "p.253Val>Ile" "" "Germline" "yes" "" "0" "" "" "g.50614406G>A" "" "pathogenic" "" "0000153601" "11" "90" "14" "51081124" "51081124" "subst" "0" "01500" "ATL1_000020" "g.51081124G>A" "" "{PMID:Klein 2014:24604904}" "" "p.253Val>Ile" "" "Germline" "yes" "" "0" "" "" "g.50614406G>A" "" "pathogenic" "" "0000153602" "11" "90" "14" "51081124" "51081124" "subst" "0" "01500" "ATL1_000020" "g.51081124G>A" "" "{PMID:Klein 2014:24604904}" "" "p.253Val>Ile" "" "Germline" "yes" "" "0" "" "" "g.50614406G>A" "" "pathogenic" "" "0000153603" "11" "90" "14" "51081124" "51081124" "subst" "0" "01500" "ATL1_000020" "g.51081124G>A" "" "{PMID:Klein 2014:24604904}" "" "p.253Val>Ile" "" "Germline" "yes" "" "0" "" "" "g.50614406G>A" "" "pathogenic" "" "0000153604" "11" "90" "14" "51081124" "51081124" "subst" "0" "01500" "ATL1_000020" "g.51081124G>A" "" "{PMID:Klein 2014:24604904}" "" "p.253Val>Ile" "" "Germline" "yes" "" "0" "" "" "g.50614406G>A" "" "pathogenic" "" "0000153605" "11" "90" "14" "51081124" "51081124" "subst" "0" "01500" "ATL1_000020" "g.51081124G>A" "" "{PMID:Klein 2014:24604904}" "" "p.253Val>Ile" "" "Germline" "yes" "" "0" "" "" "g.50614406G>A" "" "pathogenic" "" "0000153606" "21" "90" "14" "51081124" "51081124" "subst" "0" "01500" "ATL1_000020" "g.51081124G>A" "" "{PMID:Klein 2014:24604904}" "" "p.253Val>Ile" "" "Germline" "yes" "" "0" "" "" "g.50614406G>A" "" "pathogenic" "" "0000153607" "21" "90" "14" "51081124" "51081124" "subst" "0" "01500" "ATL1_000020" "g.51081124G>A" "" "{PMID:Klein 2014:24604904}" "" "p.253Val>Ile" "" "Germline" "yes" "" "0" "" "" "g.50614406G>A" "" "pathogenic" "" "0000153608" "0" "90" "14" "51088600" "51088600" "subst" "0" "01500" "ATL1_000066" "g.51088600C>T" "" "{PMID:Fusco 2012:22378671}" "" "C>T P344S>CT" "" "De novo" "yes" "" "0" "" "" "g.50621882C>T" "" "pathogenic" "" "0000153609" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2015:26600529}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153610" "11" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2015:26600529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153611" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2015:26600529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153612" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2015:26600529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153613" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2015:26600529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153614" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2015:26600529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153615" "11" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2015:26600529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153616" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2015:26600529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153617" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2015:26600529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153618" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2015:26600529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153619" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2015:26600529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153620" "11" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Zhao 2015:26600529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153621" "0" "90" "14" "51094833" "51094833" "subst" "0" "01500" "ATL1_000067" "g.51094833T>G" "" "{PMID:Zhao 2015:26600529}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628115T>G" "" "pathogenic" "" "0000153622" "21" "90" "14" "51094833" "51094833" "subst" "0" "01500" "ATL1_000067" "g.51094833T>G" "" "{PMID:Zhao 2015:26600529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628115T>G" "" "pathogenic" "" "0000153623" "21" "90" "14" "51094833" "51094833" "subst" "0" "01500" "ATL1_000067" "g.51094833T>G" "" "{PMID:Zhao 2015:26600529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628115T>G" "" "pathogenic" "" "0000153624" "21" "90" "14" "51094833" "51094833" "subst" "0" "01500" "ATL1_000067" "g.51094833T>G" "" "{PMID:Zhao 2015:26600529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628115T>G" "" "pathogenic" "" "0000153625" "21" "90" "14" "51094833" "51094833" "subst" "0" "01500" "ATL1_000067" "g.51094833T>G" "" "{PMID:Zhao 2015:26600529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628115T>G" "" "pathogenic" "" "0000153626" "21" "90" "14" "51094833" "51094833" "subst" "0" "01500" "ATL1_000067" "g.51094833T>G" "" "{PMID:Zhao 2015:26600529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628115T>G" "" "pathogenic" "" "0000153627" "21" "90" "14" "51094833" "51094833" "subst" "0" "01500" "ATL1_000067" "g.51094833T>G" "" "{PMID:Zhao 2015:26600529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628115T>G" "" "pathogenic" "" "0000153628" "21" "90" "14" "51094833" "51094833" "subst" "0" "01500" "ATL1_000067" "g.51094833T>G" "" "{PMID:Zhao 2015:26600529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628115T>G" "" "pathogenic" "" "0000153629" "21" "90" "14" "51094833" "51094833" "subst" "0" "01500" "ATL1_000067" "g.51094833T>G" "" "{PMID:Zhao 2015:26600529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628115T>G" "" "pathogenic" "" "0000153630" "21" "90" "14" "51094833" "51094833" "subst" "0" "01500" "ATL1_000067" "g.51094833T>G" "" "{PMID:Zhao 2015:26600529}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628115T>G" "" "pathogenic" "" "0000153631" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Leonardi 2015:25637064}" "" "" "" "De novo" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153632" "11" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Leonardi 2015:25637064}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153633" "0" "90" "14" "51094937" "51094937" "subst" "0" "01500" "ATL1_000068" "g.51094937T>A" "" "{PMID:Leonardi 2015:25637064}" "" "" "" "De novo" "yes" "" "0" "" "" "g.50628219T>A" "" "pathogenic" "" "0000153634" "0" "90" "14" "51088610" "51088610" "subst" "0" "01500" "ATL1_000048" "g.51088610T>C" "" "{PMID:Leonardi 2015:25637064}" "" "" "" "De novo" "yes" "" "0" "" "" "g.50621892T>C" "" "pathogenic" "" "0000153635" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Li 2007:17531128}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153636" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Li 2007:17531128}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153637" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Li 2007:17531128}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153638" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Li 2007:17531128}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153639" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Li 2007:17531128}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153640" "0" "90" "14" "51060606" "51060606" "subst" "0" "01500" "ATL1_000033" "g.51060606C>G" "" "{PMID:Li 2007:17531128}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50593888C>G" "" "pathogenic" "" "0000153641" "21" "90" "14" "51060606" "51060606" "subst" "0" "01500" "ATL1_000033" "g.51060606C>G" "" "{PMID:Li 2007:17531128}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50593888C>G" "" "pathogenic" "" "0000153642" "21" "90" "14" "51060606" "51060606" "subst" "0" "01500" "ATL1_000033" "g.51060606C>G" "" "{PMID:Li 2007:17531128}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50593888C>G" "" "pathogenic" "" "0000153643" "21" "90" "14" "51060606" "51060606" "subst" "0" "01500" "ATL1_000033" "g.51060606C>G" "" "{PMID:Li 2007:17531128}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50593888C>G" "" "pathogenic" "" "0000153644" "21" "90" "14" "51060606" "51060606" "subst" "0" "01500" "ATL1_000033" "g.51060606C>G" "" "{PMID:Li 2007:17531128}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50593888C>G" "" "pathogenic" "" "0000153645" "21" "90" "14" "51060606" "51060606" "subst" "0" "01500" "ATL1_000033" "g.51060606C>G" "" "{PMID:Li 2007:17531128}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50593888C>G" "" "pathogenic" "" "0000153646" "11" "90" "14" "51060606" "51060606" "subst" "0" "01500" "ATL1_000033" "g.51060606C>G" "" "{PMID:Li 2007:17531128}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50593888C>G" "" "pathogenic" "" "0000153647" "11" "90" "14" "51060606" "51060606" "subst" "0" "01500" "ATL1_000033" "g.51060606C>G" "" "{PMID:Li 2007:17531128}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50593888C>G" "" "pathogenic" "" "0000153648" "0" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Leonardis 2012:22340599}" "" "C1065A" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153649" "11" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Leonardis 2012:22340599}" "" "C1065A" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153650" "11" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Leonardis 2012:22340599}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153651" "11" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Leonardis 2012:22340599}" "" "C1065A" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153652" "11" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Leonardis 2012:22340599}" "" "C1065A" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153653" "11" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Leonardis 2012:22340599}" "" "C1065A" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153654" "11" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Leonardis 2012:22340599}" "" "C1065A" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153655" "11" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Leonardis 2012:22340599}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153656" "11" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Leonardis 2012:22340599}" "" "C1065A" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153657" "11" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Leonardis 2012:22340599}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153658" "11" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Leonardis 2012:22340599}" "" "C1065A" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153659" "11" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Leonardis 2012:22340599}" "" "C1065A" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153660" "21" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Leonardis 2012:22340599}" "" "C1065A" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153661" "21" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Leonardis 2012:22340599}" "" "C1065A" "" "Germline" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153662" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Svenstrup 2009:19423133}" "" "" "" "De novo" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153663" "0" "90" "14" "51094849" "51094849" "subst" "0" "01500" "ATL1_000035" "g.51094849A>G" "" "{PMID:Svenstrup 2009:19423133}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628131A>G" "" "pathogenic" "" "0000153664" "21" "90" "14" "51094849" "51094849" "subst" "0" "01500" "ATL1_000035" "g.51094849A>G" "" "{PMID:Svenstrup 2009:19423133}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628131A>G" "" "pathogenic" "" "0000153665" "21" "90" "14" "51094849" "51094849" "subst" "0" "01500" "ATL1_000035" "g.51094849A>G" "" "{PMID:Svenstrup 2009:19423133}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628131A>G" "" "pathogenic" "" "0000153666" "21" "90" "14" "51094849" "51094849" "subst" "0" "01500" "ATL1_000035" "g.51094849A>G" "" "{PMID:Svenstrup 2009:19423133}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628131A>G" "" "pathogenic" "" "0000153667" "21" "90" "14" "51094849" "51094849" "subst" "0" "01500" "ATL1_000035" "g.51094849A>G" "" "{PMID:Svenstrup 2009:19423133}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628131A>G" "" "pathogenic" "" "0000153668" "21" "90" "14" "51094849" "51094849" "subst" "0" "01500" "ATL1_000035" "g.51094849A>G" "" "{PMID:Svenstrup 2009:19423133}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628131A>G" "" "pathogenic" "" "0000153669" "0" "90" "14" "51094935" "51094937" "del" "0" "01500" "ATL1_000025" "g.51094935_51094937del" "" "{PMID:Svenstrup 2009:19423133}" "" "1306_1308delAAT" "" "De novo" "yes" "" "0" "" "" "g.50628217_50628219del" "" "pathogenic" "" "0000153670" "0" "90" "14" "51095052" "51095052" "subst" "4.06309E-6" "01500" "ATL1_000070" "g.51095052A>G" "" "{PMID:Svenstrup 2009:19423133}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628334A>G" "" "pathogenic" "" "0000153671" "11" "90" "14" "51095052" "51095052" "subst" "4.06309E-6" "01500" "ATL1_000070" "g.51095052A>G" "" "{PMID:Svenstrup 2009:19423133}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628334A>G" "" "pathogenic" "" "0000153672" "0" "90" "14" "51094855" "51094855" "subst" "0" "01500" "ATL1_000071" "g.51094855G>A" "" "{PMID:Yonekawa 2014:25193411}" "" "" "" "De novo" "yes" "" "0" "" "" "g.50628137G>A" "" "pathogenic" "" "0000153673" "0" "90" "14" "51094871" "51094871" "subst" "0" "01500" "ATL1_000072" "g.51094871C>G" "" "{PMID:Lu 2014:25454648}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628153C>G" "" "pathogenic" "" "0000153674" "11" "90" "14" "51094871" "51094871" "subst" "0" "01500" "ATL1_000072" "g.51094871C>G" "" "{PMID:Lu 2014:25454648}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628153C>G" "" "pathogenic" "" "0000153675" "11" "90" "14" "51094871" "51094871" "subst" "0" "01500" "ATL1_000072" "g.51094871C>G" "" "{PMID:Lu 2014:25454648}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628153C>G" "" "pathogenic" "" "0000153676" "11" "90" "14" "51094871" "51094871" "subst" "0" "01500" "ATL1_000072" "g.51094871C>G" "" "{PMID:Lu 2014:25454648}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628153C>G" "" "pathogenic" "" "0000153677" "11" "90" "14" "51094871" "51094871" "subst" "0" "01500" "ATL1_000072" "g.51094871C>G" "" "{PMID:Lu 2014:25454648}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628153C>G" "" "pathogenic" "" "0000153678" "11" "90" "14" "51094871" "51094871" "subst" "0" "01500" "ATL1_000072" "g.51094871C>G" "" "{PMID:Lu 2014:25454648}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628153C>G" "" "pathogenic" "" "0000153679" "11" "90" "14" "51094871" "51094871" "subst" "0" "01500" "ATL1_000072" "g.51094871C>G" "" "{PMID:Lu 2014:25454648}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628153C>G" "" "pathogenic" "" "0000153680" "11" "90" "14" "51094871" "51094871" "subst" "0" "01500" "ATL1_000072" "g.51094871C>G" "" "{PMID:Lu 2014:25454648}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628153C>G" "" "pathogenic" "" "0000153681" "11" "90" "14" "51094871" "51094871" "subst" "0" "01500" "ATL1_000072" "g.51094871C>G" "" "{PMID:Lu 2014:25454648}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628153C>G" "" "pathogenic" "" "0000153682" "11" "90" "14" "51094871" "51094871" "subst" "0" "01500" "ATL1_000072" "g.51094871C>G" "" "{PMID:Lu 2014:25454648}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628153C>G" "" "pathogenic" "" "0000153683" "21" "90" "14" "51094871" "51094871" "subst" "0" "01500" "ATL1_000072" "g.51094871C>G" "" "{PMID:Lu 2014:25454648}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628153C>G" "" "pathogenic" "" "0000153684" "21" "90" "14" "51094871" "51094871" "subst" "0" "01500" "ATL1_000072" "g.51094871C>G" "" "{PMID:Lu 2014:25454648}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628153C>G" "" "pathogenic" "" "0000153685" "21" "90" "14" "51094871" "51094871" "subst" "0" "01500" "ATL1_000072" "g.51094871C>G" "" "{PMID:Lu 2014:25454648}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628153C>G" "" "pathogenic" "" "0000153686" "21" "90" "14" "51094871" "51094871" "subst" "0" "01500" "ATL1_000072" "g.51094871C>G" "" "{PMID:Lu 2014:25454648}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628153C>G" "" "pathogenic" "" "0000153687" "21" "90" "14" "51094871" "51094871" "subst" "0" "01500" "ATL1_000072" "g.51094871C>G" "" "{PMID:Lu 2014:25454648}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628153C>G" "" "pathogenic" "" "0000153688" "21" "90" "14" "51094871" "51094871" "subst" "0" "01500" "ATL1_000072" "g.51094871C>G" "" "{PMID:Lu 2014:25454648}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628153C>G" "" "pathogenic" "" "0000153689" "21" "90" "14" "51094871" "51094871" "subst" "0" "01500" "ATL1_000072" "g.51094871C>G" "" "{PMID:Lu 2014:25454648}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628153C>G" "" "pathogenic" "" "0000153690" "21" "90" "14" "51094871" "51094871" "subst" "0" "01500" "ATL1_000072" "g.51094871C>G" "" "{PMID:Lu 2014:25454648}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628153C>G" "" "pathogenic" "" "0000153691" "0" "90" "14" "51095094" "51095095" "dup" "0" "01500" "ATL1_000073" "g.51095094_51095095dup" "" "{PMID:Lu 2014:25454648}" "" "1466_1467insTG" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628376_50628377dup" "" "pathogenic" "" "0000153692" "1" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153693" "1" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153694" "1" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153695" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153696" "3" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153697" "11" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153698" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153699" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153700" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153701" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153702" "1" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153703" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153704" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153705" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153706" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153707" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153708" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153709" "11" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153710" "11" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153711" "11" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153712" "0" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153713" "11" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153714" "11" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153715" "0" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153716" "0" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153717" "0" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153718" "0" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153719" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153720" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153721" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153722" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153723" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153724" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153725" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153726" "11" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153727" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153728" "11" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153729" "0" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153730" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153731" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153732" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153733" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153734" "3" "90" "14" "51094873" "51094873" "subst" "4.06458E-6" "01500" "ATL1_000050" "g.51094873G>A" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628155G>A" "" "pathogenic" "" "0000153735" "3" "90" "14" "51094873" "51094873" "subst" "4.06458E-6" "01500" "ATL1_000050" "g.51094873G>A" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628155G>A" "" "pathogenic" "" "0000153736" "1" "90" "14" "51094873" "51094873" "subst" "4.06458E-6" "01500" "ATL1_000050" "g.51094873G>A" "" "{PMID:Varga 2013:23483706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628155G>A" "" "pathogenic" "" "0000153737" "0" "90" "14" "51094822" "51094822" "subst" "0" "01500" "ATL1_000040" "g.51094822C>T" "" "{PMID:Fusco 2010:19735987}" "" "S398F" "" "De novo" "yes" "" "0" "" "" "g.50628104C>T" "" "pathogenic" "" "0000153738" "0" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:D\'Amico 2004:15184642}" "" "R415W" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153739" "0" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:D\'Amico 2004:15184642}" "" "R415W" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153740" "0" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:D\'Amico 2004:15184642}" "" "R415W" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153741" "0" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:D\'Amico 2004:15184642}" "" "R415W" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153742" "11" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:D\'Amico 2004:15184642}" "" "R415W" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153743" "11" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:D\'Amico 2004:15184642}" "" "R415W" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153744" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:D\'Amico 2004:15184642}" "" "R415W" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153745" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:D\'Amico 2004:15184642}" "" "R415W" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153746" "11" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:D\'Amico 2004:15184642}" "" "R415W" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153747" "11" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:D\'Amico 2004:15184642}" "" "R415W" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153748" "11" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:D\'Amico 2004:15184642}" "" "R415W" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153749" "11" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:D\'Amico 2004:15184642}" "" "R415W" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153750" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:D\'Amico 2004:15184642}" "" "R415W" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153751" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:D\'Amico 2004:15184642}" "" "R415W" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153752" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:D\'Amico 2004:15184642}" "" "R415W" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153753" "21" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:D\'Amico 2004:15184642}" "" "R415W" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153754" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Namekawa 2006:16401858}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153755" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Namekawa 2006:16401858}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153756" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Namekawa 2006:16401858}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153757" "0" "90" "14" "51087398" "51087398" "subst" "0" "01500" "ATL1_000013" "g.51087398T>G" "" "{PMID:Namekawa 2006:16401858}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50620680T>G" "" "pathogenic" "" "0000153758" "0" "90" "14" "51081124" "51081124" "subst" "0" "01500" "ATL1_000020" "g.51081124G>A" "" "{PMID:Namekawa 2006:16401858}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614406G>A" "" "pathogenic" "" "0000153759" "0" "90" "14" "51058319" "51058319" "subst" "0" "01500" "ATL1_000021" "g.51058319A>C" "" "{PMID:Namekawa 2006:16401858}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591601A>C" "" "pathogenic" "" "0000153760" "0" "90" "14" "51094752" "51094752" "subst" "0" "01500" "ATL1_000022" "g.51094752T>C" "" "{PMID:Namekawa 2006:16401858}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628034T>C" "" "pathogenic" "" "0000153761" "0" "90" "14" "51094851" "51094851" "subst" "0" "01500" "ATL1_000006" "g.51094851A>G" "" "{PMID:Dalpozzo 2003:12939451}" "" "" "" "Germline/De novo (untested)" "yes" "rs28939094" "0" "" "" "g.50628133A>G" "" "pathogenic" "" "0000153762" "0" "90" "14" "51094851" "51094851" "subst" "0" "01500" "ATL1_000006" "g.51094851A>G" "" "{PMID:Dalpozzo 2003:12939451}" "" "" "" "Germline/De novo (untested)" "yes" "rs28939094" "0" "" "" "g.50628133A>G" "" "pathogenic" "" "0000153763" "21" "90" "14" "51094851" "51094851" "subst" "0" "01500" "ATL1_000006" "g.51094851A>G" "" "{PMID:Dalpozzo 2003:12939451}" "" "" "" "Germline" "yes" "rs28939094" "0" "" "" "g.50628133A>G" "" "pathogenic" "" "0000153764" "21" "90" "14" "51094851" "51094851" "subst" "0" "01500" "ATL1_000006" "g.51094851A>G" "" "{PMID:Dalpozzo 2003:12939451}" "" "" "" "Germline" "yes" "rs28939094" "0" "" "" "g.50628133A>G" "" "pathogenic" "" "0000153765" "21" "90" "14" "51094851" "51094851" "subst" "0" "01500" "ATL1_000006" "g.51094851A>G" "" "{PMID:Dalpozzo 2003:12939451}" "" "" "" "Germline" "yes" "rs28939094" "0" "" "" "g.50628133A>G" "" "pathogenic" "" "0000153766" "21" "90" "14" "51094851" "51094851" "subst" "0" "01500" "ATL1_000006" "g.51094851A>G" "" "{PMID:Dalpozzo 2003:12939451}" "" "" "" "Germline" "yes" "rs28939094" "0" "" "" "g.50628133A>G" "" "pathogenic" "" "0000153767" "21" "90" "14" "51094851" "51094851" "subst" "0" "01500" "ATL1_000006" "g.51094851A>G" "" "{PMID:Dalpozzo 2003:12939451}" "" "" "" "Germline" "yes" "rs28939094" "0" "" "" "g.50628133A>G" "" "pathogenic" "" "0000153768" "0" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Di Fabio 2014:24417445}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153769" "11" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01500" "ATL1_000010" "g.51094872C>T" "" "{PMID:Di Fabio 2014:24417445}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000153770" "0" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Orlacchio 2011:21336785}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153771" "11" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Orlacchio 2011:21336785}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153772" "11" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Orlacchio 2011:21336785}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153773" "11" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Orlacchio 2011:21336785}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153774" "11" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Orlacchio 2011:21336785}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153775" "11" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Orlacchio 2011:21336785}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153776" "11" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Orlacchio 2011:21336785}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153777" "21" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Orlacchio 2011:21336785}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153778" "21" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Orlacchio 2011:21336785}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153779" "21" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Orlacchio 2011:21336785}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153780" "0" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Magariello 2012:22581552}" "" "p.Arg416Cys" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153781" "21" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Magariello 2012:22581552}" "" "p.Arg416Cys" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153782" "21" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Magariello 2012:22581552}" "" "p.Arg416Cys" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153783" "0" "90" "14" "51094876" "51094876" "subst" "0" "01500" "ATL1_000041" "g.51094876G>A" "" "{PMID:de Leva 2010:19768483}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628158G>A" "" "pathogenic" "" "0000153784" "11" "90" "14" "51094876" "51094876" "subst" "0" "01500" "ATL1_000041" "g.51094876G>A" "" "{PMID:de Leva 2010:19768483}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628158G>A" "" "pathogenic" "" "0000153785" "0" "90" "14" "51095005" "51095005" "subst" "0" "01500" "ATL1_000024" "g.51095005A>G" "" "{PMID:Matsui 2007:17380240}" "" "Y459C" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628287A>G" "" "pathogenic" "" "0000153786" "0" "90" "14" "51095005" "51095005" "subst" "0" "01500" "ATL1_000024" "g.51095005A>G" "" "{PMID:Matsui 2007:17380240}" "" "Y459C" "" "Germline" "yes" "" "0" "" "" "g.50628287A>G" "" "pathogenic" "" "0000153787" "0" "90" "14" "51095005" "51095005" "subst" "0" "01500" "ATL1_000024" "g.51095005A>G" "" "{PMID:Matsui 2007:17380240}" "" "Y459C" "" "Germline" "yes" "" "0" "" "" "g.50628287A>G" "" "pathogenic" "" "0000153788" "0" "90" "14" "51054546" "51054546" "subst" "0" "01500" "ATL1_000074" "g.51054546C>T" "" "{PMID:Shin 2014:24969372}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50587828C>T" "" "pathogenic" "" "0000153789" "11" "90" "14" "51054546" "51054546" "subst" "0" "01500" "ATL1_000074" "g.51054546C>T" "" "{PMID:Shin 2014:24969372}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50587828C>T" "" "pathogenic" "" "0000153790" "11" "90" "14" "51054546" "51054546" "subst" "0" "01500" "ATL1_000074" "g.51054546C>T" "" "{PMID:Shin 2014:24969372}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50587828C>T" "" "pathogenic" "" "0000153791" "0" "90" "14" "51094935" "51094937" "del" "0" "01500" "ATL1_000025" "g.51094935_51094937del" "" "{PMID:Meijer 2007:17427918}" "" "p.del436N" "" "Germline" "yes" "" "0" "" "" "g.50628217_50628219del" "" "pathogenic" "" "0000153792" "0" "90" "14" "51094935" "51094937" "del" "0" "01500" "ATL1_000025" "g.51094935_51094937del" "" "{PMID:Meijer 2007:17427918}" "" "p.del436N" "" "Germline" "yes" "" "0" "" "" "g.50628217_50628219del" "" "pathogenic" "" "0000153793" "0" "90" "14" "51094935" "51094937" "del" "0" "01500" "ATL1_000025" "g.51094935_51094937del" "" "{PMID:Meijer 2007:17427918}" "" "p.del436N" "" "Germline" "yes" "" "0" "" "" "g.50628217_50628219del" "" "pathogenic" "" "0000153794" "0" "90" "14" "51094935" "51094937" "del" "0" "01500" "ATL1_000025" "g.51094935_51094937del" "" "{PMID:Meijer 2007:17427918}" "" "p.del436N" "" "Germline" "yes" "" "0" "" "" "g.50628217_50628219del" "" "pathogenic" "" "0000153795" "0" "90" "14" "51094935" "51094937" "del" "0" "01500" "ATL1_000025" "g.51094935_51094937del" "" "{PMID:Meijer 2007:17427918}" "" "p.del436N" "" "Germline" "yes" "" "0" "" "" "g.50628217_50628219del" "" "pathogenic" "" "0000153796" "0" "90" "14" "51094935" "51094937" "del" "0" "01500" "ATL1_000025" "g.51094935_51094937del" "" "{PMID:Meijer 2007:17427918}" "" "p.del436N" "" "Germline" "yes" "" "0" "" "" "g.50628217_50628219del" "" "pathogenic" "" "0000153797" "0" "90" "14" "51094935" "51094937" "del" "0" "01500" "ATL1_000025" "g.51094935_51094937del" "" "{PMID:Meijer 2007:17427918}" "" "p.del436N" "" "Germline" "yes" "" "0" "" "" "g.50628217_50628219del" "" "pathogenic" "" "0000153798" "0" "90" "14" "51094935" "51094937" "del" "0" "01500" "ATL1_000025" "g.51094935_51094937del" "" "{PMID:Meijer 2007:17427918}" "" "p.del436N" "" "Germline" "yes" "" "0" "" "" "g.50628217_50628219del" "" "pathogenic" "" "0000153799" "0" "90" "14" "51094935" "51094937" "del" "0" "01500" "ATL1_000025" "g.51094935_51094937del" "" "{PMID:Meijer 2007:17427918}" "" "p.del436N" "" "Germline" "yes" "" "0" "" "" "g.50628217_50628219del" "" "pathogenic" "" "0000153800" "0" "90" "14" "51095148" "51095148" "dup" "0" "01500" "ATL1_000005" "g.51095148dup" "" "{PMID:Tessa 2002:12499504}" "" "AY032844:1688insA" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628430dup" "" "pathogenic" "" "0000153801" "21" "90" "14" "51095148" "51095148" "dup" "0" "01500" "ATL1_000005" "g.51095148dup" "" "{PMID:Tessa 2002:12499504}" "" "AY032844:1688insA" "" "Germline" "yes" "" "0" "" "" "g.50628430dup" "" "pathogenic" "" "0000153802" "21" "90" "14" "51095148" "51095148" "dup" "0" "01500" "ATL1_000005" "g.51095148dup" "" "{PMID:Tessa 2002:12499504}" "" "AY032844:1688insA" "" "Germline" "yes" "" "0" "" "" "g.50628430dup" "" "pathogenic" "" "0000153803" "11" "90" "14" "51095148" "51095148" "dup" "0" "01500" "ATL1_000005" "g.51095148dup" "" "{PMID:Tessa 2002:12499504}" "" "AY032844:1688insA" "" "Germline" "yes" "" "0" "" "" "g.50628430dup" "" "pathogenic" "" "0000153804" "11" "90" "14" "51095148" "51095148" "dup" "0" "01500" "ATL1_000005" "g.51095148dup" "" "{PMID:Tessa 2002:12499504}" "" "AY032844:1688insA" "" "Germline" "yes" "" "0" "" "" "g.50628430dup" "" "pathogenic" "" "0000153805" "11" "90" "14" "51095148" "51095148" "dup" "0" "01500" "ATL1_000005" "g.51095148dup" "" "{PMID:Tessa 2002:12499504}" "" "AY032844:1688insA" "" "Germline" "yes" "" "0" "" "" "g.50628430dup" "" "pathogenic" "" "0000153806" "11" "90" "14" "51095148" "51095148" "dup" "0" "01500" "ATL1_000005" "g.51095148dup" "" "{PMID:Tessa 2002:12499504}" "" "AY032844:1688insA" "" "Germline" "yes" "" "0" "" "" "g.50628430dup" "" "pathogenic" "" "0000153807" "11" "90" "14" "51095148" "51095148" "dup" "0" "01500" "ATL1_000005" "g.51095148dup" "" "{PMID:Tessa 2002:12499504}" "" "AY032844:1688insA" "" "Germline" "yes" "" "0" "" "" "g.50628430dup" "" "pathogenic" "" "0000153808" "11" "90" "14" "51095148" "51095148" "dup" "0" "01500" "ATL1_000005" "g.51095148dup" "" "{PMID:Tessa 2002:12499504}" "" "AY032844:1688insA" "" "Germline" "yes" "" "0" "" "" "g.50628430dup" "" "pathogenic" "" "0000153809" "11" "90" "14" "51095148" "51095148" "dup" "0" "01500" "ATL1_000005" "g.51095148dup" "" "{PMID:Tessa 2002:12499504}" "" "AY032844:1688insA" "" "Germline" "yes" "" "0" "" "" "g.50628430dup" "" "pathogenic" "" "0000153810" "21" "90" "14" "51095148" "51095148" "dup" "0" "01500" "ATL1_000005" "g.51095148dup" "" "{PMID:Tessa 2002:12499504}" "" "AY032844:1688insA" "" "Germline" "yes" "" "0" "" "" "g.50628430dup" "" "pathogenic" "" "0000153811" "11" "90" "14" "51095148" "51095148" "dup" "0" "01500" "ATL1_000005" "g.51095148dup" "" "{PMID:Tessa 2002:12499504}" "" "AY032844:1688insA" "" "Germline" "yes" "" "0" "" "" "g.50628430dup" "" "pathogenic" "" "0000153812" "11" "90" "14" "51095148" "51095148" "dup" "0" "01500" "ATL1_000005" "g.51095148dup" "" "{PMID:Tessa 2002:12499504}" "" "AY032844:1688insA" "" "Germline" "yes" "" "0" "" "" "g.50628430dup" "" "pathogenic" "" "0000153813" "21" "90" "14" "51095148" "51095148" "dup" "0" "01500" "ATL1_000005" "g.51095148dup" "" "{PMID:Tessa 2002:12499504}" "" "AY032844:1688insA" "" "Germline" "yes" "" "0" "" "" "g.50628430dup" "" "pathogenic" "" "0000153814" "0" "90" "14" "51095133" "51095133" "dup" "0" "01500" "ATL1_000076" "g.51095133dup" "" "{PMID:Loureiro 2008:18664244}" "" "1504_1505insG" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628415dup" "" "pathogenic" "" "0000153815" "11" "90" "14" "51095133" "51095133" "dup" "0" "01500" "ATL1_000076" "g.51095133dup" "" "{PMID:Loureiro 2008:18664244}" "" "1504_1505insG" "" "Germline" "yes" "" "0" "" "" "g.50628415dup" "" "pathogenic" "" "0000153816" "11" "90" "14" "51095133" "51095133" "dup" "0" "01500" "ATL1_000076" "g.51095133dup" "" "{PMID:Loureiro 2008:18664244}" "" "1504_1505insG" "" "Germline" "yes" "" "0" "" "" "g.50628415dup" "" "pathogenic" "" "0000153817" "0" "90" "14" "51058252" "51058358" "" "0" "01500" "ATL1_000079" "g.(51057794_51058252)_(51058358_51060563)del" "" "{PMID:Sulek 2013:22203332}" "" "del exon 4" "" "De novo" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000153818" "0" "90" "14" "51088610" "51088610" "subst" "0" "01500" "ATL1_000048" "g.51088610T>C" "" "{PMID:Al-Maawali 2011:21321493}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50621892T>C" "" "pathogenic" "" "0000153819" "21" "90" "14" "51088610" "51088610" "subst" "0" "01500" "ATL1_000048" "g.51088610T>C" "" "{PMID:Al-Maawali 2011:21321493}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50621892T>C" "" "pathogenic" "" "0000153820" "21" "90" "14" "51088610" "51088610" "subst" "0" "01500" "ATL1_000048" "g.51088610T>C" "" "{PMID:Al-Maawali 2011:21321493}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50621892T>C" "" "pathogenic" "" "0000153821" "21" "90" "14" "51088610" "51088610" "subst" "0" "01500" "ATL1_000048" "g.51088610T>C" "" "{PMID:Al-Maawali 2011:21321493}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50621892T>C" "" "pathogenic" "" "0000153822" "21" "90" "14" "51088610" "51088610" "subst" "0" "01500" "ATL1_000048" "g.51088610T>C" "" "{PMID:Al-Maawali 2011:21321493}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50621892T>C" "" "pathogenic" "" "0000153823" "21" "90" "14" "51088610" "51088610" "subst" "0" "01500" "ATL1_000048" "g.51088610T>C" "" "{PMID:Al-Maawali 2011:21321493}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50621892T>C" "" "pathogenic" "" "0000153824" "11" "90" "14" "51088610" "51088610" "subst" "0" "01500" "ATL1_000048" "g.51088610T>C" "" "{PMID:Al-Maawali 2011:21321493}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50621892T>C" "" "pathogenic" "" "0000153825" "21" "90" "14" "51088610" "51088610" "subst" "0" "01500" "ATL1_000048" "g.51088610T>C" "" "{PMID:Al-Maawali 2011:21321493}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50621892T>C" "" "pathogenic" "" "0000153826" "21" "90" "14" "51088610" "51088610" "subst" "0" "01500" "ATL1_000048" "g.51088610T>C" "" "{PMID:Al-Maawali 2011:21321493}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50621892T>C" "" "pathogenic" "" "0000153827" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Terada 2013:23233086}" "" "884C>T (R239C)" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153828" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Terada 2013:23233086}" "" "884C>T (R239C)" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153829" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Terada 2013:23233086}" "" "884C>T (R239C)" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153830" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Terada 2013:23233086}" "" "884C>T (R239C)" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153831" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Terada 2013:23233086}" "" "884C>T (R239C)" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153832" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Wilkinson 2003:14607301}" "" "884C>T (R239C)" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153833" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Wilkinson 2003:14607301}" "" "884C>T (R239C)" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153834" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Wilkinson 2003:14607301}" "" "884C>T (R239C)" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153835" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Wilkinson 2003:14607301}" "" "884C>T (R239C)" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153836" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Wilkinson 2003:14607301}" "" "884C>T (R239C)" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153837" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Wilkinson 2003:14607301}" "" "884C>T (R239C)" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153838" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Park 2015:26208798}" "" "" "" "De novo" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153839" "0" "90" "14" "51081124" "51081124" "subst" "0" "01500" "ATL1_000020" "g.51081124G>A" "" "{PMID:Park 2015:26208798}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614406G>A" "" "pathogenic" "" "0000153840" "0" "90" "14" "51094789" "51094789" "subst" "0" "01500" "ATL1_000077" "g.51094789T>C" "" "{PMID:Park 2015:26208798}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628071T>C" "" "pathogenic" "" "0000153841" "0" "90" "14" "51054546" "51054546" "subst" "0" "01500" "ATL1_000074" "g.51054546C>T" "" "{PMID:Park 2015:26208798}" "" "" "" "De novo" "yes" "" "0" "" "" "g.50587828C>T" "" "pathogenic" "" "0000153842" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Balicza 2016:27084228}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153843" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Luo 2014:25341883}" "" "" "" "De novo" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153844" "0" "90" "14" "51081140" "51081140" "subst" "0" "01500" "ATL1_000002" "g.51081140A>G" "" "{PMID:Luo 2014:25341883}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614422A>G" "" "pathogenic" "" "0000153845" "0" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Luo 2014:25341883}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153846" "0" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Luo 2014:25341883}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153847" "0" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Luo 2014:25341883}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153848" "0" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Luo 2014:25341883}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153849" "0" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Luo 2014:25341883}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153850" "0" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Luo 2014:25341883}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153851" "0" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Luo 2014:25341883}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153852" "0" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Luo 2014:25341883}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153853" "0" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Luo 2014:25341883}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153854" "0" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Luo 2014:25341883}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153855" "0" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Luo 2014:25341883}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153856" "0" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Luo 2014:25341883}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153857" "0" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Luo 2014:25341883}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153858" "0" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Luo 2014:25341883}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153859" "0" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "01500" "ATL1_000049" "g.51094875C>T" "" "{PMID:Luo 2014:25341883}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000153860" "0" "90" "14" "51081185" "51081185" "subst" "0" "01500" "ATL1_000078" "g.51081185G>A" "" "{PMID:Muglia 2002:12382159}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50614467G>A" "" "pathogenic" "" "0000153861" "21" "90" "14" "51081185" "51081185" "subst" "0" "01500" "ATL1_000078" "g.51081185G>A" "" "{PMID:Muglia 2002:12382159}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614467G>A" "" "pathogenic" "" "0000153862" "21" "90" "14" "51081185" "51081185" "subst" "0" "01500" "ATL1_000078" "g.51081185G>A" "" "{PMID:Muglia 2002:12382159}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614467G>A" "" "pathogenic" "" "0000153863" "21" "90" "14" "51081185" "51081185" "subst" "0" "01500" "ATL1_000078" "g.51081185G>A" "" "{PMID:Muglia 2002:12382159}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614467G>A" "" "pathogenic" "" "0000153864" "11" "90" "14" "51081185" "51081185" "subst" "0" "01500" "ATL1_000078" "g.51081185G>A" "" "{PMID:Muglia 2002:12382159}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614467G>A" "" "pathogenic" "" "0000153865" "11" "90" "14" "51081185" "51081185" "subst" "0" "01500" "ATL1_000078" "g.51081185G>A" "" "{PMID:Muglia 2002:12382159}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614467G>A" "" "pathogenic" "" "0000153866" "11" "90" "14" "51081185" "51081185" "subst" "0" "01500" "ATL1_000078" "g.51081185G>A" "" "{PMID:Muglia 2002:12382159}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614467G>A" "" "pathogenic" "" "0000153867" "11" "90" "14" "51081185" "51081185" "subst" "0" "01500" "ATL1_000078" "g.51081185G>A" "" "{PMID:Muglia 2002:12382159}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614467G>A" "" "pathogenic" "" "0000153868" "11" "90" "14" "51081185" "51081185" "subst" "0" "01500" "ATL1_000078" "g.51081185G>A" "" "{PMID:Muglia 2002:12382159}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614467G>A" "" "pathogenic" "" "0000153869" "11" "90" "14" "51081185" "51081185" "subst" "0" "01500" "ATL1_000078" "g.51081185G>A" "" "{PMID:Muglia 2002:12382159}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614467G>A" "" "pathogenic" "" "0000153870" "11" "90" "14" "51081185" "51081185" "subst" "0" "01500" "ATL1_000078" "g.51081185G>A" "" "{PMID:Muglia 2002:12382159}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614467G>A" "" "pathogenic" "" "0000153871" "11" "90" "14" "51081185" "51081185" "subst" "0" "01500" "ATL1_000078" "g.51081185G>A" "" "{PMID:Muglia 2002:12382159}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614467G>A" "" "pathogenic" "" "0000153872" "21" "90" "14" "51081185" "51081185" "subst" "0" "01500" "ATL1_000078" "g.51081185G>A" "" "{PMID:Muglia 2002:12382159}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50614467G>A" "" "pathogenic" "" "0000153873" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Scarano 2005:15742100}" "" "R495W" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153874" "11" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Scarano 2005:15742100}" "" "R495W" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153875" "11" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Scarano 2005:15742100}" "" "R495W" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153876" "11" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "01500" "ATL1_000017" "g.51095112C>T" "" "{PMID:Scarano 2005:15742100}" "" "R495W" "" "Germline" "yes" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000153877" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Polymeris 2016:27260292}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153878" "11" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Polymeris 2016:27260292}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153879" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Polymeris 2016:27260292}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153880" "21" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Polymeris 2016:27260292}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153881" "0" "90" "14" "51089912" "51089912" "subst" "0" "01500" "ATL1_000045" "g.51089912C>A" "" "{PMID:Polymeris 2016:27260292}" "" "" "" "De novo" "yes" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000153882" "3" "90" "14" "51057729" "51057729" "subst" "0" "01500" "ATL1_000051" "g.51057729G>A" "" "{PMID:Khan 2014:24473461}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591011G>A" "" "pathogenic" "" "0000153883" "3" "90" "14" "51057729" "51057729" "subst" "0" "01500" "ATL1_000051" "g.51057729G>A" "" "{PMID:Khan 2014:24473461}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591011G>A" "" "pathogenic" "" "0000153884" "3" "90" "14" "51057729" "51057729" "subst" "0" "01500" "ATL1_000051" "g.51057729G>A" "" "{PMID:Khan 2014:24473461}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591011G>A" "" "pathogenic" "" "0000153885" "3" "90" "14" "51057729" "51057729" "subst" "0" "01500" "ATL1_000051" "g.51057729G>A" "" "{PMID:Khan 2014:24473461}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591011G>A" "" "pathogenic" "" "0000153886" "3" "90" "14" "51057729" "51057729" "subst" "0" "01500" "ATL1_000051" "g.51057729G>A" "" "{PMID:Khan 2014:24473461}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50591011G>A" "" "pathogenic" "" "0000153887" "0" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Chan 2009:19652243}" "" "p.R239C" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153888" "11" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Chan 2009:19652243}" "" "p.R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000153889" "11" "90" "14" "51080061" "51080061" "subst" "0" "01500" "ATL1_000001" "g.51080061C>T" "" "{PMID:Chan 2009:19652243}" "" "p.R239C" "" "Germline" "yes" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000247251" "0" "10" "14" "51054598" "51054598" "subst" "0.130805" "02330" "ATL1_000061" "g.51054598A>G" "" "" "" "ATL1(NM_001127713.1):c.84A>G (p.P28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50587880A>G" "" "benign" "" "0000247266" "0" "10" "14" "51057796" "51057796" "subst" "0.00441677" "02330" "ATL1_000110" "g.51057796A>G" "" "" "" "ATL1(NM_001127713.1):c.417+3A>G, ATL1(NM_015915.4):c.417+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50591078A>G" "" "benign" "" "0000254294" "0" "30" "14" "51094961" "51094961" "subst" "4.06808E-6" "01943" "ATL1_000096" "g.51094961A>C" "" "" "" "ATL1(NM_001127713.1):c.1332A>C (p.A444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50628243A>C" "" "likely benign" "" "0000258409" "0" "90" "14" "51089912" "51089912" "subst" "0" "02330" "ATL1_000045" "g.51089912C>A" "" "" "" "ATL1(NM_001127713.1):c.1065C>A (p.N355K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50623194C>A" "" "pathogenic" "" "0000258410" "0" "90" "14" "51054710" "51054710" "subst" "6.90327E-5" "02330" "ATL1_000047" "g.51054710G>C" "" "" "" "ATL1(NM_001127713.1):c.196G>C (p.E66Q), ATL1(NM_015915.5):c.196G>C (p.E66Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50587992G>C" "" "pathogenic" "" "0000258411" "0" "10" "14" "51057727" "51057727" "subst" "0.763822" "02330" "ATL1_000060" "g.51057727G>A" "" "" "" "ATL1(NM_001127713.1):c.351G>A (p.E117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50591009G>A" "" "benign" "" "0000258412" "0" "10" "14" "51058234" "51058234" "subst" "0.76371" "02330" "ATL1_000080" "g.51058234G>T" "" "" "" "ATL1(NM_001127713.1):c.418-19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50591516G>T" "" "benign" "" "0000258413" "0" "10" "14" "51062357" "51062357" "subst" "0.129149" "02330" "ATL1_000062" "g.51062357G>A" "" "" "" "ATL1(NM_001127713.1):c.630+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50595639G>A" "" "benign" "" "0000258802" "0" "10" "14" "51057727" "51057727" "subst" "0.763822" "02325" "ATL1_000060" "g.51057727G>A" "" "" "" "ATL1(NM_001127713.1):c.351G>A (p.E117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50591009G>A" "" "benign" "" "0000258803" "0" "10" "14" "51058234" "51058234" "subst" "0.76371" "02325" "ATL1_000080" "g.51058234G>T" "" "" "" "ATL1(NM_001127713.1):c.418-19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50591516G>T" "" "benign" "" "0000261132" "0" "30" "14" "51062288" "51062288" "subst" "8.14239E-6" "02326" "ATL1_000111" "g.51062288T>C" "" "" "" "ATL1(NM_001127713.1):c.574-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50595570T>C" "" "likely benign" "" "0000263169" "0" "30" "14" "51094873" "51094873" "subst" "4.06458E-6" "01943" "ATL1_000050" "g.51094873G>A" "" "" "" "ATL1(NM_001127713.1):c.1244G>A (p.R415Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50628155G>A" "" "likely benign" "" "0000263170" "0" "30" "14" "51099021" "51099021" "subst" "1.62874E-5" "01943" "ATL1_000112" "g.51099021G>A" "" "" "" "ATL1(NM_001127713.1):c.1626G>A (p.S542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50632303G>A" "" "likely benign" "" "0000323679" "0" "50" "14" "51058343" "51058343" "subst" "0" "01804" "ATL1_000114" "g.51058343A>G" "" "" "" "ATL1(NM_001127713.1):c.508A>G (p.(Ile170Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50591625A>G" "" "VUS" "" "0000338346" "0" "10" "14" "51058234" "51058234" "subst" "0.76371" "02327" "ATL1_000080" "g.51058234G>T" "" "" "" "ATL1(NM_001127713.1):c.418-19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50591516G>T" "" "benign" "" "0000338348" "0" "10" "14" "51062357" "51062357" "subst" "0.129149" "02327" "ATL1_000062" "g.51062357G>A" "" "" "" "ATL1(NM_001127713.1):c.630+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50595639G>A" "" "benign" "" "0000338349" "0" "30" "14" "51062370" "51062370" "subst" "0" "02327" "ATL1_000083" "g.51062370T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50595652T>G" "" "likely benign" "" "0000338350" "0" "30" "14" "51088629" "51088629" "subst" "8.30917E-6" "02327" "ATL1_000089" "g.51088629T>C" "" "" "" "ATL1(NM_015915.4):c.1047+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50621911T>C" "" "likely benign" "" "0000338351" "0" "10" "14" "51096609" "51096610" "ins" "0" "02327" "ATL1_000100" "g.51096609_51096610insTTTCT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50629891_50629892insTTTCT" "" "benign" "" "0000338352" "0" "10" "14" "51096610" "51096610" "subst" "0" "02327" "ATL1_000101" "g.51096610G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50629892G>T" "" "benign" "" "0000338353" "0" "10" "14" "51096645" "51096646" "ins" "0" "02327" "ATL1_000102" "g.51096645_51096646insAAT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50629927_50629928insAAT" "" "benign" "" "0000338355" "0" "30" "14" "51096652" "51096652" "subst" "0" "02327" "ATL1_000104" "g.51096652T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50629934T>A" "" "likely benign" "" "0000338991" "0" "90" "14" "51058328" "51058328" "subst" "0" "02327" "ATL1_000081" "g.51058328G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50591610G>T" "" "pathogenic" "" "0000339201" "0" "10" "14" "51057727" "51057727" "subst" "0.763822" "02327" "ATL1_000060" "g.51057727G>A" "" "" "" "ATL1(NM_001127713.1):c.351G>A (p.E117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50591009G>A" "" "benign" "" "0000340219" "0" "10" "14" "51054598" "51054598" "subst" "0.130805" "02327" "ATL1_000061" "g.51054598A>G" "" "" "" "ATL1(NM_001127713.1):c.84A>G (p.P28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50587880A>G" "" "benign" "" "0000340220" "0" "10" "14" "51080051" "51080051" "subst" "0.00581556" "02327" "ATL1_000086" "g.51080051C>T" "" "" "" "ATL1(NM_001127713.1):c.705C>T (p.F235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50613333C>T" "" "benign" "" "0000340221" "0" "30" "14" "51094781" "51094781" "subst" "3.25161E-5" "02327" "ATL1_000092" "g.51094781A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50628063A>G" "" "likely benign" "" "0000340222" "0" "10" "14" "51094859" "51094859" "subst" "0.00121114" "02327" "ATL1_000093" "g.51094859G>A" "" "" "" "ATL1(NM_001127713.1):c.1230G>A (p.G410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50628141G>A" "" "benign" "" "0000340223" "0" "30" "14" "51094961" "51094961" "subst" "4.06808E-6" "02327" "ATL1_000096" "g.51094961A>C" "" "" "" "ATL1(NM_001127713.1):c.1332A>C (p.A444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50628243A>C" "" "likely benign" "" "0000340728" "0" "30" "14" "51094940" "51094940" "subst" "5.69532E-5" "02327" "ATL1_000095" "g.51094940T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50628222T>C" "" "likely benign" "" "0000340857" "0" "30" "14" "51095138" "51095138" "subst" "0" "02327" "ATL1_000098" "g.51095138G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50628420G>A" "" "likely benign" "" "0000342368" "0" "90" "14" "51080061" "51080061" "subst" "0" "02327" "ATL1_000001" "g.51080061C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50613343C>T" "" "pathogenic" "" "0000342857" "0" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "02327" "ATL1_000010" "g.51094872C>T" "" "" "" "ATL1(NM_015915.5):c.1243C>T (p.(Arg415Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50628154C>T" "" "pathogenic" "" "0000342858" "0" "90" "14" "51094875" "51094875" "subst" "8.12843E-6" "02327" "ATL1_000049" "g.51094875C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50628157C>T" "" "pathogenic" "" "0000343009" "0" "90" "14" "51095112" "51095112" "subst" "4.06316E-6" "02327" "ATL1_000017" "g.51095112C>T" "" "" "" "ATL1(NM_001127713.1):c.1483C>T (p.R495W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50628394C>T" "" "pathogenic" "" "0000343025" "0" "50" "14" "51095131" "51095131" "subst" "8.12632E-6" "02327" "ATL1_000097" "g.51095131G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50628413G>A" "" "VUS" "" "0000343726" "0" "50" "14" "51089914" "51089914" "subst" "0" "02327" "ATL1_000090" "g.51089914A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50623196A>G" "" "VUS" "" "0000346063" "0" "50" "14" "51094855" "51094855" "subst" "0" "02327" "ATL1_000071" "g.51094855G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50628137G>A" "" "VUS" "" "0000347516" "0" "50" "14" "51087347" "51087347" "subst" "0" "02327" "ATL1_000087" "g.51087347A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50620629A>G" "" "VUS" "" "0000347539" "0" "90" "14" "51088604" "51088604" "subst" "0" "02327" "ATL1_000088" "g.51088604A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50621886A>C" "" "pathogenic" "" "0000347992" "0" "70" "14" "51080020" "51080020" "subst" "0" "02327" "ATL1_000085" "g.51080020T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50613302T>C" "" "likely pathogenic" "" "0000348391" "0" "50" "14" "51088595" "51088595" "subst" "0" "02327" "ATL1_000053" "g.51088595C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50621877C>A" "" "VUS" "" "0000348879" "0" "90" "14" "51081143" "51081143" "subst" "0" "02327" "ATL1_000003" "g.51081143C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50614425C>A" "" "pathogenic" "" "0000349088" "0" "30" "14" "51099020" "51099020" "subst" "2.03568E-5" "02327" "ATL1_000107" "g.51099020C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50632302C>T" "" "likely benign" "" "0000350088" "0" "70" "14" "51094878" "51094878" "subst" "0" "02327" "ATL1_000094" "g.51094878T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50628160T>C" "" "likely pathogenic" "" "0000350107" "0" "70" "14" "51095005" "51095005" "subst" "0" "02327" "ATL1_000024" "g.51095005A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50628287A>G" "" "likely pathogenic" "" "0000350334" "0" "70" "14" "51058323" "51058323" "subst" "0" "02327" "ATL1_000052" "g.51058323T>C" "" "" "" "ATL1(NM_001127713.1):c.488T>C (p.V163A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50591605T>C" "" "likely pathogenic" "" "0000350425" "0" "70" "14" "51081124" "51081124" "subst" "0" "02327" "ATL1_000020" "g.51081124G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50614406G>A" "" "likely pathogenic" "" "0000350506" "0" "50" "14" "51089925" "51089925" "subst" "4.06841E-5" "02327" "ATL1_000091" "g.51089925G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50623207G>A" "" "VUS" "" "0000357999" "0" "90" "14" "51095129" "51095129" "subst" "0" "01741" "ATL1_000109" "g.51095129C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50628411C>G" "" "pathogenic" "" "0000440082" "0" "70" "14" "51094789" "51094789" "subst" "0" "01164" "ATL1_000113" "g.51094789T>G" "" "" "" "" "ACMG grading: PM5,PP3,PM2,PM6; in our patient de novo confirmed / Park et al 2015 describe c.1160T>C p.(Leu387Ser) as pathogenic" "Germline" "" "" "0" "" "" "g.50628071T>G" "" "likely pathogenic" "ACMG" "0000552611" "0" "50" "14" "51058343" "51058343" "subst" "0" "02327" "ATL1_000114" "g.51058343A>G" "" "" "" "ATL1(NM_001127713.1):c.508A>G (p.(Ile170Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50591625A>G" "" "VUS" "" "0000552612" "0" "30" "14" "51062341" "51062341" "subst" "0.000564839" "01943" "ATL1_000115" "g.51062341G>A" "" "" "" "ATL1(NM_001127713.1):c.621G>A (p.K207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50595623G>A" "" "likely benign" "" "0000552613" "0" "10" "14" "51080039" "51080039" "subst" "0.00187418" "01943" "ATL1_000116" "g.51080039T>C" "" "" "" "ATL1(NM_001127713.1):c.693T>C (p.G231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50613321T>C" "" "benign" "" "0000552614" "0" "50" "14" "51081115" "51081115" "subst" "0" "02327" "ATL1_000117" "g.51081115C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50614397C>G" "" "VUS" "" "0000552615" "0" "50" "14" "51096713" "51096713" "subst" "0" "02327" "SAV1_000001" "g.51096713G>A" "" "" "" "ATL1(NM_015915.5):c.1552G>A (p.G518R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50629995G>A" "" "VUS" "" "0000552616" "0" "30" "14" "51099067" "51099067" "subst" "3.69273E-5" "02330" "SAV1_000002" "g.51099067T>C" "" "" "" "ATL1(NM_001127713.1):c.*10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50632349T>C" "" "likely benign" "" "0000614970" "0" "10" "14" "51094859" "51094859" "subst" "0.00121114" "02330" "ATL1_000093" "g.51094859G>A" "" "" "" "ATL1(NM_001127713.1):c.1230G>A (p.G410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50628141G>A" "" "benign" "" "0000623138" "0" "30" "14" "51026973" "51026973" "subst" "4.08951E-6" "02330" "ATL1_000118" "g.51026973C>T" "" "" "" "ATL1(NM_001127713.1):c.-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50560255C>T" "" "likely benign" "" "0000664369" "0" "50" "14" "51081102" "51081102" "subst" "0" "01164" "ATL1_000119" "g.51081102C>A" "" "" "" "" "ACMG grading: BP4,PM2" "Germline" "" "" "0" "" "" "g.50614384C>A" "" "VUS" "ACMG" "0000665811" "0" "70" "14" "51094875" "51094875" "subst" "8.12843E-6" "01164" "ATL1_000049" "g.51094875C>T" "" "" "" "" "ACMG grading: PVS1,PS2,PM2; Jongmans et al. 2006. J Med Genet 43: 306" "Germline" "" "rs387906941" "0" "" "" "g.50628157C>T" "" "likely pathogenic" "ACMG" "0000679985" "0" "30" "14" "51058285" "51058285" "subst" "0" "01943" "ATL1_000120" "g.51058285C>A" "" "" "" "ATL1(NM_001127713.1):c.450C>A (p.T150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683264" "0" "70" "14" "51094849" "51094851" "del" "0" "01164" "ATL1_000121" "g.51094849_51094851del" "" "Chrestian et al. 2017. Neurol Genet 3: 122" "" "" "ACMG grading: PM1,PM2,PM4,PM5\r\none year old male patient with developmental delay, clinical cerebral movement disorder bilateral with increased muscle tone" "Germline" "" "" "0" "" "" "g.50628131_50628133del" "" "likely pathogenic" "ACMG" "0000691662" "0" "30" "14" "51057698" "51057698" "subst" "0.000162569" "01943" "ATL1_000122" "g.51057698A>G" "" "" "" "ATL1(NM_001127713.1):c.322A>G (p.T108A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724782" "0" "30" "14" "51057698" "51057698" "subst" "0.000162569" "02326" "ATL1_000122" "g.51057698A>G" "" "" "" "ATL1(NM_001127713.1):c.322A>G (p.T108A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724783" "0" "50" "14" "51058274" "51058274" "subst" "0" "01943" "ATL1_000123" "g.51058274A>T" "" "" "" "ATL1(NM_001127713.1):c.439A>T (p.T147S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724784" "0" "70" "14" "51058323" "51058323" "subst" "0" "02329" "ATL1_000052" "g.51058323T>C" "" "" "" "ATL1(NM_001127713.1):c.488T>C (p.V163A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000724785" "0" "30" "14" "51089890" "51089890" "subst" "4.08543E-6" "02325" "ATL1_000124" "g.51089890C>T" "" "" "" "ATL1(NM_015915.5):c.1048-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724786" "0" "50" "14" "51099008" "51099008" "subst" "0" "02327" "SAV1_000004" "g.51099008C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000791035" "0" "90" "14" "51095130" "51095130" "subst" "0" "01807" "ATL1_000125" "g.51095130C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000806410" "0" "50" "14" "51054710" "51054710" "subst" "6.90327E-5" "02325" "ATL1_000047" "g.51054710G>C" "" "" "" "ATL1(NM_001127713.1):c.196G>C (p.E66Q), ATL1(NM_015915.5):c.196G>C (p.E66Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806411" "0" "50" "14" "51080038" "51080038" "subst" "0" "02329" "ATL1_000126" "g.51080038G>T" "" "" "" "ATL1(NM_001127713.1):c.692G>T (p.G231V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806412" "0" "50" "14" "51089896" "51089896" "subst" "0" "02327" "ATL1_000127" "g.51089896C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806413" "0" "50" "14" "51095149" "51095149" "subst" "4.06309E-6" "02329" "ATL1_000128" "g.51095149T>C" "" "" "" "ATL1(NM_001127713.1):c.1520T>C (p.I507T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853837" "0" "10" "14" "51080015" "51080015" "subst" "0.000812876" "02330" "ATL1_000129" "g.51080015C>T" "" "" "" "ATL1(NM_001127713.1):c.669C>T (p.Y223=), ATL1(NM_015915.4):c.669C>T (p.Y223=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853838" "0" "50" "14" "51096717" "51096717" "subst" "2.10565E-5" "02330" "ATL1_000018" "g.51096717G>A" "" "" "" "ATL1(NM_015915.5):c.1556G>A (p.S519N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863565" "0" "10" "14" "51080039" "51080039" "subst" "0.00187418" "02330" "ATL1_000116" "g.51080039T>C" "" "" "" "ATL1(NM_001127713.1):c.693T>C (p.G231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863566" "0" "10" "14" "51080051" "51080051" "subst" "0.00581556" "02330" "ATL1_000086" "g.51080051C>T" "" "" "" "ATL1(NM_001127713.1):c.705C>T (p.F235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000891803" "0" "30" "14" "51057784" "51057784" "subst" "0.00106697" "02326" "ATL1_000130" "g.51057784T>C" "" "" "" "ATL1(NM_001127713.1):c.408T>C (p.D136=), ATL1(NM_015915.4):c.408T>C (p.D136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891804" "0" "90" "14" "51058293" "51058293" "subst" "0" "02327" "ATL1_000055" "g.51058293G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000891805" "0" "70" "14" "51095112" "51095112" "subst" "4.06316E-6" "02329" "ATL1_000017" "g.51095112C>T" "" "" "" "ATL1(NM_001127713.1):c.1483C>T (p.R495W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000891806" "0" "50" "14" "51096713" "51096713" "subst" "0" "02325" "SAV1_000001" "g.51096713G>A" "" "" "" "ATL1(NM_015915.5):c.1552G>A (p.G518R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914195" "0" "50" "14" "51080016" "51080016" "subst" "0" "02325" "ATL1_000084" "g.51080016G>A" "" "" "" "ATL1(NM_015915.5):c.670G>A (p.E224K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925880" "0" "30" "14" "51080015" "51080015" "subst" "0.000812876" "02326" "ATL1_000129" "g.51080015C>T" "" "" "" "ATL1(NM_001127713.1):c.669C>T (p.Y223=), ATL1(NM_015915.4):c.669C>T (p.Y223=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930307" "0" "10" "14" "51057796" "51057796" "subst" "0.00441677" "02326" "ATL1_000110" "g.51057796A>G" "" "" "" "ATL1(NM_001127713.1):c.417+3A>G, ATL1(NM_015915.4):c.417+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950250" "0" "50" "14" "51096717" "51096717" "subst" "2.10565E-5" "02329" "ATL1_000018" "g.51096717G>A" "" "" "" "ATL1(NM_015915.5):c.1556G>A (p.S519N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967494" "0" "10" "14" "51057784" "51057784" "subst" "0.00106697" "02330" "ATL1_000130" "g.51057784T>C" "" "" "" "ATL1(NM_001127713.1):c.408T>C (p.D136=), ATL1(NM_015915.4):c.408T>C (p.D136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000967495" "0" "70" "14" "51058328" "51058328" "subst" "0" "02327" "ATL1_000037" "g.51058328G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000967496" "0" "30" "14" "51088629" "51088629" "subst" "8.30917E-6" "02326" "ATL1_000089" "g.51088629T>C" "" "" "" "ATL1(NM_015915.4):c.1047+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980923" "0" "50" "14" "51057693" "51057693" "subst" "4.06395E-6" "01804" "ATL1_000131" "g.51057693C>T" "" "" "" "ATL1(NM_015915.5):c.317C>T (p.(Pro106Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980924" "0" "50" "14" "51057697" "51057697" "subst" "0" "01804" "ATL1_000132" "g.51057697G>C" "" "" "" "ATL1(NM_015915.5):c.321G>C (p.(Leu107Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980925" "0" "30" "14" "51094961" "51094961" "subst" "4.06808E-6" "02330" "ATL1_000096" "g.51094961A>C" "" "" "" "ATL1(NM_001127713.1):c.1332A>C (p.A444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980926" "0" "50" "14" "51095049" "51095049" "subst" "0" "01804" "ATL1_000133" "g.51095049G>C" "" "" "" "ATL1(NM_015915.5):c.1420G>C (p.(Ala474Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985318" "0" "50" "14" "51062294" "51062294" "subst" "0" "01709" "ATL1_000134" "g.51062294C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50595576C>G" "RCV003612723" "likely pathogenic" "ACMG" "0001001028" "0" "30" "14" "51057796" "51057796" "subst" "0.00441677" "01804" "ATL1_000110" "g.51057796A>G" "" "" "" "ATL1(NM_001127713.1):c.417+3A>G, ATL1(NM_015915.4):c.417+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001029" "0" "50" "14" "51062343" "51062343" "subst" "0" "01804" "ATL1_000135" "g.51062343C>T" "" "" "" "ATL1(NM_015915.4):c.623C>T (p.(Pro208Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001030" "0" "30" "14" "51087401" "51087401" "subst" "4.06276E-6" "01804" "ATL1_000136" "g.51087401A>G" "" "" "" "ATL1(NM_015915.4):c.947A>G (p.(Asn316Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001011893" "0" "90" "14" "51095101" "51095101" "subst" "0" "00006" "ATL1_000137" "g.51095101G>A" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Unknown" "" "" "0" "" "" "g.50628383G>A" "SUB7797680" "pathogenic" "" "0001011894" "0" "90" "14" "51095101" "51095101" "subst" "0" "00006" "ATL1_000137" "g.51095101G>A" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Unknown" "" "" "0" "" "" "g.50628383G>A" "SUB7797680" "pathogenic" "" "0001015157" "0" "50" "14" "51027011" "51027011" "subst" "0" "02325" "ATL1_000138" "g.51027011A>T" "" "" "" "ATL1(NM_015915.5):c.28A>T (p.S10C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015158" "0" "10" "14" "51027013" "51027013" "subst" "0.000221188" "02330" "ATL1_000139" "g.51027013T>C" "" "" "" "ATL1(NM_001127713.1):c.30T>C (p.S10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015159" "0" "50" "14" "51054678" "51054678" "subst" "2.43641E-5" "02330" "ATL1_000140" "g.51054678G>A" "" "" "" "ATL1(NM_001127713.1):c.164G>A (p.R55Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015160" "0" "70" "14" "51095134" "51095135" "del" "0" "02325" "ATL1_000054" "g.51095134_51095135del" "" "" "" "ATL1(NM_015915.5):c.1505_1506delAG (p.E502Afs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001021218" "21" "70" "14" "51088595" "51088595" "subst" "0" "00006" "ATL1_000053" "g.51088595C>A" "" "{PMID:Mao 2025:39815277}" "" "" "ACMG PM1, PM2, PM5, PP1, PP2, PP3" "Germline" "" "" "0" "" "" "g.50621877C>A" "" "likely pathogenic (dominant)" "ACMG" "0001026392" "0" "30" "14" "51095135" "51095135" "subst" "0" "02330" "ATL1_000141" "g.51095135G>A" "" "" "" "ATL1(NM_001127713.1):c.1506G>A (p.E502=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039986" "0" "30" "14" "51080072" "51080088" "del" "0" "01804" "ATL1_000142" "g.51080072_51080088del" "" "" "" "ATL1(NM_015915.5):c.723+3_723+19del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039987" "0" "90" "14" "51094872" "51094872" "subst" "4.06458E-6" "01804" "ATL1_000010" "g.51094872C>T" "" "" "" "ATL1(NM_015915.5):c.1243C>T (p.(Arg415Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001054833" "0" "50" "14" "51057760" "51057760" "subst" "0" "01804" "ATL1_000143" "g.51057760A>T" "" "" "" "ATL1(NM_015915.5):c.384A>T (p.(Glu128Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058454" "0" "90" "14" "51089911" "51089911" "subst" "0" "00006" "ATL1_000144" "g.51089911A>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.50623193A>T" "" "pathogenic" "" "0001058455" "0" "70" "14" "51094850" "51094850" "subst" "0" "00006" "ATL1_000145" "g.51094850G>C" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.50628132G>C" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ATL1 ## Count = 809 "{{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}}" "0000022935" "00023895" "75" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Arg118Gln)" "3" "0000075863" "00023895" "50" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495Trp)" "12" "0000088051" "00023895" "90" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415Trp)" "12" "0000088056" "00023895" "90" "470" "0" "470" "0" "c.470T>G" "r.(?)" "p.(Leu157Trp)" "4" "0000088063" "00023895" "90" "650" "0" "650" "0" "c.650G>A" "r.(?)" "p.(Arg217Gln)" "7" "0000088088" "00023895" "90" "1244" "0" "1244" "0" "c.1244G>A" "r.(?)" "p.(Arg415Gln)" "12" "0000090064" "00023895" "90" "452" "0" "452" "0" "c.452T>C" "r.(?)" "p.(Phe151Ser)" "4" "0000153198" "00023895" "90" "488" "0" "488" "0" "c.488T>C" "r.(?)" "p.(Val163Ala)" "4" "0000153199" "00023895" "90" "488" "0" "488" "0" "c.488T>C" "r.(?)" "p.(Val163Ala)" "4" "0000153200" "00023895" "90" "488" "0" "488" "0" "c.488T>C" "r.(?)" "p.(Val163Ala)" "4" "0000153201" "00023895" "90" "1025" "0" "1025" "0" "c.1025C>A" "r.(?)" "p.(Pro342Gln)" "10" "0000153202" "00023895" "90" "1025" "0" "1025" "0" "c.1025C>A" "r.(?)" "p.(Pro342Gln)" "10" "0000153203" "00023895" "90" "1505" "0" "1506" "0" "c.1505_1506del" "r.(?)" "p.(Glu502Alafs*20)" "12" "0000153204" "00023895" "90" "1505" "0" "1506" "0" "c.1505_1506del" "r.(?)" "p.(Glu502Alafs*20)" "12" "0000153205" "00023895" "90" "1505" "0" "1506" "0" "c.1505_1506del" "r.(?)" "p.(Glu502Alafs*20)" "12" "0000153206" "00023895" "90" "1505" "0" "1506" "0" "c.1505_1506del" "r.(?)" "p.(Glu502Alafs*20)" "12" "0000153207" "00023895" "90" "1505" "0" "1506" "0" "c.1505_1506del" "r.(?)" "p.(Glu502Alafs*20)" "12" "0000153208" "00023895" "90" "1505" "0" "1506" "0" "c.1505_1506del" "r.(?)" "p.(Glu502Alafs*20)" "12" "0000153209" "00023895" "90" "458" "0" "458" "0" "c.458G>C" "r.(?)" "p.(Ser153Thr)" "4" "0000153210" "00023895" "90" "458" "0" "458" "0" "c.458G>C" "r.(?)" "p.(Ser153Thr)" "4" "0000153211" "00023895" "90" "458" "0" "458" "0" "c.458G>C" "r.(?)" "p.(Ser153Thr)" "4" "0000153212" "00023895" "90" "473" "0" "473" "0" "c.473G>C" "r.(?)" "p.(Arg158Thr)" "4" "0000153213" "00023895" "90" "473" "0" "473" "0" "c.473G>C" "r.(?)" "p.(Arg158Thr)" "4" "0000153214" "00023895" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Cys)" "7" "0000153215" "00023895" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Cys)" "7" "0000153216" "00023895" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Cys)" "7" "0000153217" "00023895" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Cys)" "7" "0000153218" "00023895" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Cys)" "7" "0000153219" "00023895" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Cys)" "7" "0000153220" "00023895" "90" "730" "0" "730" "0" "c.730G>A" "r.(?)" "p.(Gly244Arg)" "8" "0000153221" "00023895" "90" "730" "0" "730" "0" "c.730G>A" "r.(?)" "p.(Gly244Arg)" "8" "0000153222" "00023895" "90" "740" "0" "740" "0" "c.740A>G" "r.(?)" "p.(His247Arg)" "8" "0000153223" "00023895" "90" "740" "0" "740" "0" "c.740A>G" "r.(?)" "p.(His247Arg)" "8" "0000153224" "00023895" "90" "740" "0" "740" "0" "c.740A>G" "r.(?)" "p.(His247Arg)" "8" "0000153225" "00023895" "90" "998" "0" "998" "0" "c.998T>A" "r.(?)" "p.(Ile333Lys)" "10" "0000153226" "00023895" "90" "998" "0" "998" "0" "c.998T>A" "r.(?)" "p.(Ile333Lys)" "10" "0000153227" "00023895" "90" "998" "0" "998" "0" "c.998T>A" "r.(?)" "p.(Ile333Lys)" "10" "0000153228" "00023895" "90" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415Trp)" "12" "0000153229" "00023895" "90" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415Trp)" "12" "0000153230" "00023895" "90" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415Trp)" "12" "0000153231" "00023895" "90" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415Trp)" "12" "0000153232" "00023895" "90" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415Trp)" "12" "0000153233" "00023895" "90" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415Trp)" "12" "0000153234" "00023895" "90" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415Trp)" "12" "0000153235" "00023895" "90" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495Trp)" "12" "0000153236" "00023895" "90" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495Trp)" "12" "0000153237" "00023895" "90" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495Trp)" "12" "0000153238" "00023895" "90" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495Trp)" "12" "0000153239" "00023895" "90" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495Trp)" "12" "0000153240" "00023895" "90" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495Trp)" "12" "0000153241" "00023895" "90" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495Trp)" "12" "0000153242" "00023895" "90" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495Trp)" "12" "0000153243" "00023895" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Cys)" "7" "0000153244" "00023895" "90" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495Trp)" "12" "0000153245" "00023895" "90" "1006" "0" "1006" "0" "c.1006T>C" "r.(?)" "p.(Tyr336His)" "10" "0000153246" "00023895" "90" "1006" "0" "1006" "0" "c.1006T>C" "r.(?)" "p.(Tyr336His)" "10" "0000153247" "00023895" "90" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415Trp)" "12" "0000153248" "00023895" "90" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495Trp)" "12" "0000153249" "00023895" "90" "1065" "0" "1065" "0" "c.1065C>A" "r.(?)" "p.(Asn355Lys)" "11" "0000153250" "00023895" "90" "1065" "0" "1065" "0" "c.1065C>A" "r.(?)" "p.(Asn355Lys)" "11" "0000153251" "00023895" "90" "1065" "0" "1065" "0" "c.1065C>A" "r.(?)" "p.(Asn355Lys)" "11" "0000153252" "00023895" "90" "1065" "0" "1065" "0" "c.1065C>A" "r.(?)" "p.(Asn355Lys)" "11" "0000153253" "00023895" "90" "1065" "0" "1065" "0" "c.1065C>A" "r.(?)" "p.(Asn355Lys)" "11" "0000153254" "00023895" "90" "1065" "0" "1065" "0" "c.1065C>A" "r.(?)" "p.(Asn355Lys)" "11" "0000153255" "00023895" "90" "1065" "0" "1065" "0" "c.1065C>A" "r.(?)" "p.(Asn355Lys)" "11" "0000153256" "00023895" "90" "1065" "0" "1065" "0" "c.1065C>A" "r.(?)" "p.(Asn355Lys)" "11" "0000153257" "00023895" "90" "1065" "0" "1065" "0" "c.1065C>A" "r.(?)" 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"p.(Arg118Gln)" "3" "0000153883" "00023895" "90" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Arg118Gln)" "3" "0000153884" "00023895" "90" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Arg118Gln)" "3" "0000153885" "00023895" "90" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Arg118Gln)" "3" "0000153886" "00023895" "90" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Arg118Gln)" "3" "0000153887" "00023895" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Cys)" "7" "0000153888" "00023895" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Cys)" "7" "0000153889" "00023895" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Cys)" "7" "0000247251" "00023895" "10" "84" "0" "84" "0" "c.84A>G" "r.(?)" "p.(Pro28=)" "" "0000247266" "00023895" "10" "417" "3" "417" "3" "c.417+3A>G" "r.spl?" "p.?" "" "0000254294" "00023895" "30" "1332" "0" "1332" "0" "c.1332A>C" "r.(?)" "p.(Ala444=)" "" "0000258409" "00023895" "90" "1065" "0" "1065" "0" "c.1065C>A" "r.(?)" "p.(Asn355Lys)" "" "0000258410" "00023895" "90" "196" "0" "196" "0" "c.196G>C" "r.(?)" "p.(Glu66Gln)" "" "0000258411" "00023895" "10" "351" "0" "351" "0" "c.351G>A" "r.(?)" "p.(Glu117=)" "" "0000258412" "00023895" "10" "418" "-19" "418" "-19" "c.418-19G>T" "r.(=)" "p.(=)" "" "0000258413" "00023895" "10" "630" "7" "630" "7" "c.630+7G>A" "r.(=)" "p.(=)" "" "0000258802" "00023895" "10" "351" "0" "351" "0" "c.351G>A" "r.(?)" "p.(Glu117=)" "" "0000258803" "00023895" "10" "418" "-19" "418" "-19" "c.418-19G>T" "r.(=)" "p.(=)" "" "0000261132" "00023895" "30" "574" "-6" "574" "-6" "c.574-6T>C" "r.(=)" "p.(=)" "" "0000263169" "00023895" "30" "1244" "0" "1244" "0" "c.1244G>A" "r.(?)" "p.(Arg415Gln)" "" "0000263170" "00023895" "30" "1641" "0" "1641" "0" "c.1641G>A" "r.(?)" "p.(Ser547=)" "" "0000323679" "00023895" "50" "508" "0" "508" "0" "c.508A>G" "r.(?)" "p.(Ile170Val)" "" "0000338346" "00023895" "10" "418" "-19" "418" "-19" "c.418-19G>T" "r.(=)" "p.(=)" "" "0000338348" "00023895" "10" "630" "7" "630" "7" "c.630+7G>A" "r.(=)" "p.(=)" "" "0000338349" "00023895" "30" "630" "20" "630" "20" "c.630+20T>G" "r.(=)" "p.(=)" "" "0000338350" "00023895" "30" "1047" "12" "1047" "12" "c.1047+12T>C" "r.(=)" "p.(=)" "" "0000338351" "00023895" "10" "1552" "-104" "1552" "-103" "c.1552-104_1552-103insTTTCT" "r.(=)" "p.(=)" "" "0000338352" "00023895" "10" "1552" "-103" "1552" "-103" "c.1552-103G>T" "r.(=)" "p.(=)" "" "0000338353" "00023895" "10" "1552" "-68" "1552" "-67" "c.1552-68_1552-67insAAT" "r.(=)" "p.(=)" "" "0000338355" "00023895" "30" "1552" "-61" "1552" "-61" "c.1552-61T>A" "r.(=)" "p.(=)" "" "0000338991" "00023895" "90" "493" "0" "493" "0" "c.493G>T" "r.(?)" "p.(Ala165Ser)" "" "0000339201" "00023895" "10" "351" "0" "351" "0" "c.351G>A" "r.(?)" "p.(Glu117=)" "" "0000340219" "00023895" "10" "84" "0" "84" "0" "c.84A>G" "r.(?)" "p.(Pro28=)" "" "0000340220" "00023895" "10" "705" "0" "705" "0" "c.705C>T" "r.(?)" "p.(Phe235=)" "" "0000340221" "00023895" "30" "1152" "0" "1152" "0" "c.1152A>G" "r.(?)" "p.(Pro384=)" "" "0000340222" "00023895" "10" "1230" "0" "1230" "0" "c.1230G>A" "r.(?)" "p.(Gly410=)" "" "0000340223" "00023895" "30" "1332" "0" "1332" "0" "c.1332A>C" "r.(?)" "p.(Ala444=)" "" "0000340728" "00023895" "30" "1311" "0" "1311" "0" "c.1311T>C" "r.(?)" "p.(Asp437=)" "" "0000340857" "00023895" "30" "1509" "0" "1509" "0" "c.1509G>A" "r.(?)" "p.(Leu503=)" "" "0000342368" "00023895" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Cys)" "" "0000342857" "00023895" "90" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415Trp)" "" "0000342858" "00023895" "90" "1246" "0" "1246" "0" "c.1246C>T" "r.(?)" "p.(Arg416Cys)" "" "0000343009" "00023895" "90" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495Trp)" "" "0000343025" "00023895" "50" "1502" "0" "1502" "0" "c.1502G>A" "r.(?)" "p.(Arg501Gln)" "" "0000343726" "00023895" "50" "1067" "0" "1067" "0" "c.1067A>G" "r.(?)" "p.(Asn356Ser)" "" "0000346063" "00023895" "50" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "" "0000347516" "00023895" "50" "893" "0" "893" "0" "c.893A>G" "r.(?)" "p.(Lys298Arg)" "" "0000347539" "00023895" "90" "1034" "0" "1034" "0" "c.1034A>C" "r.(?)" "p.(Lys345Thr)" "" "0000347992" "00023895" "70" "674" "0" "674" "0" "c.674T>C" "r.(?)" "p.(Phe225Ser)" "" "0000348391" "00023895" "50" "1025" "0" "1025" "0" "c.1025C>A" "r.(?)" "p.(Pro342Gln)" "" "0000348879" "00023895" "90" "776" "0" "776" "0" "c.776C>A" "r.(?)" "p.(Ser259Tyr)" "" "0000349088" "00023895" "30" "1640" "0" "1640" "0" "c.1640C>T" "r.(?)" "p.(Ser547Leu)" "" "0000350088" "00023895" "70" "1249" "0" "1249" "0" "c.1249T>C" "r.(?)" "p.(Tyr417His)" "" "0000350107" "00023895" "70" "1376" "0" "1376" "0" "c.1376A>G" "r.(?)" "p.(Tyr459Cys)" "" "0000350334" "00023895" "70" "488" "0" "488" "0" "c.488T>C" "r.(?)" "p.(Val163Ala)" "" "0000350425" "00023895" "70" "757" "0" "757" "0" "c.757G>A" "r.(?)" "p.(Val253Ile)" "" "0000350506" "00023895" "50" "1078" "0" "1078" "0" "c.1078G>A" "r.(?)" "p.(Val360Met)" "" "0000357999" "00023895" "90" "1500" "0" "1500" "0" "c.1500C>G" "r.(?)" "p.(Tyr500*)" "12" "0000440082" "00023895" "70" "1160" "0" "1160" "0" "c.1160T>G" "r.(?)" "p.Leu387Trp" "" "0000552611" "00023895" "50" "508" "0" "508" "0" "c.508A>G" "r.(?)" "p.(Ile170Val)" "" "0000552612" "00023895" "30" "621" "0" "621" "0" "c.621G>A" "r.(?)" "p.(Lys207=)" "" "0000552613" "00023895" "10" "693" "0" "693" "0" "c.693T>C" "r.(?)" "p.(Gly231=)" "" "0000552614" "00023895" "50" "748" "0" "748" "0" "c.748C>G" "r.(?)" "p.(Leu250Val)" "" "0000552615" "00023895" "50" "1552" "0" "1552" "0" "c.1552G>A" "r.(?)" "p.(Gly518Arg)" "" "0000552616" "00023895" "30" "1687" "0" "1687" "0" "c.*10T>C" "r.(=)" "p.(=)" "" "0000614970" "00023895" "10" "1230" "0" "1230" "0" "c.1230G>A" "r.(?)" "p.(Gly410=)" "" "0000623138" "00023895" "30" "-11" "0" "-11" "0" "c.-11C>T" "r.(?)" "p.(=)" "" "0000664369" "00023895" "50" "735" "0" "735" "0" "c.735C>A" "r.(?)" "p.(Asn245Lys)" "" "0000665811" "00023895" "70" "1246" "0" "1246" "0" "c.1246C>T" "r.(?)" "p.(Arg416Cys)" "" "0000679985" "00023895" "30" "450" "0" "450" "0" "c.450C>A" "r.(?)" "p.(Thr150=)" "" "0000683264" "00023895" "70" "1220" "0" "1222" "0" "c.1220_1222del" "r.(?)" "p.(Lys407del)" "" "0000691662" "00023895" "30" "322" "0" "322" "0" "c.322A>G" "r.(?)" "p.(Thr108Ala)" "" "0000724782" "00023895" "30" "322" "0" "322" "0" "c.322A>G" "r.(?)" "p.(Thr108Ala)" "" "0000724783" "00023895" "50" "439" "0" "439" "0" "c.439A>T" "r.(?)" "p.(Thr147Ser)" "" "0000724784" "00023895" "70" "488" "0" "488" "0" "c.488T>C" "r.(?)" "p.(Val163Ala)" "" "0000724785" "00023895" "30" "1048" "-5" "1048" "-5" "c.1048-5C>T" "r.spl?" "p.?" "" "0000724786" "00023895" "50" "1628" "0" "1628" "0" "c.1628C>T" "r.(?)" "p.(Pro543Leu)" "" "0000791035" "00023895" "90" "1501" "0" "1501" "0" "c.1501C>T" "r.(?)" "p.(Arg501Ter)" "" "0000806410" "00023895" "50" "196" "0" "196" "0" "c.196G>C" "r.(?)" "p.(Glu66Gln)" "" "0000806411" "00023895" "50" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "" "0000806412" "00023895" "50" "1049" "0" "1049" "0" "c.1049C>T" "r.(?)" "p.(Ala350Val)" "" "0000806413" "00023895" "50" "1520" "0" "1520" "0" "c.1520T>C" "r.(?)" "p.(Ile507Thr)" "" "0000853837" "00023895" "10" "669" "0" "669" "0" "c.669C>T" "r.(?)" "p.(Tyr223=)" "" "0000853838" "00023895" "50" "1556" "0" "1556" "0" "c.1556G>A" "r.(?)" "p.(Ser519Asn)" "" "0000863565" "00023895" "10" "693" "0" "693" "0" "c.693T>C" "r.(?)" "p.(Gly231=)" "" "0000863566" "00023895" "10" "705" "0" "705" "0" "c.705C>T" "r.(?)" "p.(Phe235=)" "" "0000891803" "00023895" "30" "408" "0" "408" "0" "c.408T>C" "r.(?)" "p.(Asp136=)" "" "0000891804" "00023895" "90" "458" "0" "458" "0" "c.458G>C" "r.(?)" "p.(Ser153Thr)" "" "0000891805" "00023895" "70" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495Trp)" "" "0000891806" "00023895" "50" "1552" "0" "1552" "0" "c.1552G>A" "r.(?)" "p.(Gly518Arg)" "" "0000914195" "00023895" "50" "670" "0" "670" "0" "c.670G>A" "r.(?)" "p.(Glu224Lys)" "" "0000925880" "00023895" "30" "669" "0" "669" "0" "c.669C>T" "r.(?)" "p.(Tyr223=)" "" "0000930307" "00023895" "10" "417" "3" "417" "3" "c.417+3A>G" "r.spl?" "p.?" "" "0000950250" "00023895" "50" "1556" "0" "1556" "0" "c.1556G>A" "r.(?)" "p.(Ser519Asn)" "" "0000967494" "00023895" "10" "408" "0" "408" "0" "c.408T>C" "r.(?)" "p.(Asp136=)" "" "0000967495" "00023895" "70" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Ala165Thr)" "" "0000967496" "00023895" "30" "1047" "12" "1047" "12" "c.1047+12T>C" "r.(=)" "p.(=)" "" "0000980923" "00023895" "50" "317" "0" "317" "0" "c.317C>T" "r.(?)" "p.(Pro106Leu)" "" "0000980924" "00023895" "50" "321" "0" "321" "0" "c.321G>C" "r.(?)" "p.(Leu107Phe)" "" "0000980925" "00023895" "30" "1332" "0" "1332" "0" "c.1332A>C" "r.(?)" "p.(Ala444=)" "" "0000980926" "00023895" "50" "1420" "0" "1420" "0" "c.1420G>C" "r.(?)" "p.(Ala474Pro)" "" "0000985318" "00023895" "50" "574" "0" "574" "0" "c.574C>G" "r.(?)" "p.(Leu192Val)" "" "0001001028" "00023895" "30" "417" "3" "417" "3" "c.417+3A>G" "r.spl?" "p.?" "" "0001001029" "00023895" "50" "623" "0" "623" "0" "c.623C>T" "r.(?)" "p.(Pro208Leu)" "" "0001001030" "00023895" "30" "947" "0" "947" "0" "c.947A>G" "r.(?)" "p.(Asn316Ser)" "" "0001011893" "00023895" "90" "1472" "0" "1472" "0" "c.1472G>A" "r.(?)" "p.(Trp491Ter)" "" "0001011894" "00023895" "90" "1472" "0" "1472" "0" "c.1472G>A" "r.(?)" "p.(Trp491Ter)" "" "0001015157" "00023895" "50" "28" "0" "28" "0" "c.28A>T" "r.(?)" "p.(Ser10Cys)" "" "0001015158" "00023895" "10" "30" "0" "30" "0" "c.30T>C" "r.(?)" "p.(=)" "" "0001015159" "00023895" "50" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Arg55Gln)" "" "0001015160" "00023895" "70" "1505" "0" "1506" "0" "c.1505_1506del" "r.(?)" "p.(Glu502Alafs*20)" "" "0001021218" "00023895" "70" "1025" "0" "1025" "0" "c.1025C>A" "r.(?)" "p.(Pro342Gln)" "10" "0001026392" "00023895" "30" "1506" "0" "1506" "0" "c.1506G>A" "r.(?)" "p.(=)" "" "0001039986" "00023895" "30" "723" "3" "723" "19" "c.723+3_723+19del" "r.spl?" "p.?" "" "0001039987" "00023895" "90" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415Trp)" "" "0001054833" "00023895" "50" "384" "0" "384" "0" "c.384A>T" "r.(?)" "p.(Glu128Asp)" "" "0001058454" "00023895" "90" "1064" "0" "1064" "0" "c.1064A>T" "r.(?)" "p.(Asn355Ile)" "" "0001058455" "00023895" "70" "1221" "0" "1221" "0" "c.1221G>C" "r.(?)" "p.(Lys407Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 711 "{{screeningid}}" "{{variantid}}" "0000004029" "0000022935" "0000047193" "0000075863" "0000057757" "0000088051" "0000057762" "0000088056" "0000057769" "0000088063" "0000057794" "0000088088" "0000059225" "0000090064" "0000094656" "0000153198" "0000094657" "0000153199" "0000094658" "0000153200" "0000094659" "0000153201" "0000094660" "0000153202" "0000094661" "0000153203" "0000094662" "0000153204" "0000094663" "0000153205" "0000094664" "0000153206" "0000094665" "0000153207" "0000094666" "0000153208" "0000094667" "0000153209" "0000094668" "0000153210" "0000094669" "0000153211" "0000094670" "0000153212" "0000094671" "0000153213" "0000094672" "0000153214" "0000094673" "0000153215" "0000094674" "0000153216" "0000094675" "0000153217" "0000094676" "0000153218" "0000094677" "0000153219" "0000094678" "0000153220" "0000094679" "0000153221" "0000094680" "0000153222" "0000094681" "0000153223" "0000094682" "0000153224" "0000094683" "0000153225" "0000094684" "0000153226" "0000094685" "0000153227" "0000094686" "0000153228" "0000094687" "0000153229" "0000094688" "0000153230" "0000094689" "0000153231" "0000094690" "0000153232" "0000094691" "0000153233" "0000094692" "0000153234" "0000094693" "0000153235" "0000094694" "0000153236" "0000094695" "0000153237" "0000094696" "0000153238" "0000094697" "0000153239" "0000094698" "0000153240" "0000094699" "0000153241" "0000094700" "0000153242" "0000094701" "0000153243" "0000094702" "0000153244" "0000094703" "0000153245" "0000094704" "0000153246" "0000094705" "0000153247" "0000094706" "0000153248" "0000094707" "0000153249" "0000094708" "0000153250" "0000094709" "0000153251" "0000094710" "0000153252" "0000094711" "0000153253" "0000094712" "0000153254" "0000094713" "0000153255" "0000094714" "0000153256" "0000094715" "0000153257" "0000094716" "0000153258" "0000094717" "0000153259" "0000094718" "0000153260" "0000094719" "0000153261" "0000094720" "0000153262" "0000094721" "0000153263" "0000094722" "0000153264" "0000094723" "0000153265" "0000094724" "0000153266" "0000094725" "0000153267" "0000094726" "0000153268" "0000094727" "0000153269" "0000094728" "0000153270" "0000094729" "0000153271" "0000094730" "0000153272" "0000094731" "0000153273" "0000094732" "0000153274" "0000094733" "0000153275" "0000094734" "0000153276" "0000094735" "0000153277" "0000094736" "0000153278" "0000094737" "0000153279" "0000094738" "0000153280" "0000094739" "0000153281" "0000094740" "0000153282" "0000094741" "0000153283" "0000094742" "0000153284" "0000094743" "0000153285" "0000094744" "0000153286" "0000094745" "0000153287" "0000094746" "0000153288" "0000094747" "0000153289" "0000094748" "0000153290" "0000094749" "0000153291" "0000094750" "0000153292" "0000094751" "0000153293" "0000094752" "0000153294" "0000094753" "0000153295" "0000094754" "0000153296" "0000094755" "0000153297" "0000094756" "0000153298" "0000094757" "0000153299" "0000094758" "0000153300" "0000094759" "0000153301" "0000094760" "0000153302" "0000094761" "0000153303" "0000094762" "0000153304" "0000094763" "0000153305" "0000094764" "0000153306" "0000094765" "0000153307" "0000094766" "0000153308" "0000094767" "0000153309" "0000094768" "0000153310" "0000094769" "0000153311" "0000094770" "0000153312" "0000094771" "0000153313" "0000094772" "0000153314" "0000094773" "0000153315" "0000094774" "0000153316" "0000094775" "0000153317" "0000094776" "0000153318" "0000094777" "0000153319" "0000094778" "0000153320" "0000094779" "0000153321" "0000094780" "0000153322" "0000094781" "0000153323" "0000094782" "0000153324" "0000094783" "0000153325" "0000094784" "0000153326" "0000094785" "0000153327" "0000094786" "0000153328" "0000094787" "0000153329" "0000094788" "0000153330" "0000094789" "0000153331" "0000094790" "0000153332" "0000094791" "0000153333" "0000094792" "0000153334" "0000094793" "0000153335" "0000094794" "0000153336" "0000094795" "0000153337" "0000094796" "0000153338" "0000094797" "0000153339" "0000094798" "0000153340" "0000094799" "0000153341" "0000094800" "0000153342" "0000094801" "0000153343" "0000094802" "0000153344" "0000094803" "0000153345" "0000094804" "0000153346" "0000094805" "0000153347" "0000094806" "0000153348" "0000094807" "0000153349" "0000094808" "0000153350" "0000094809" "0000153351" "0000094810" "0000153352" "0000094811" "0000153353" "0000094812" "0000153354" "0000094813" "0000153355" "0000094814" "0000153356" "0000094815" "0000153357" "0000094816" "0000153358" "0000094817" "0000153359" "0000094818" "0000153360" "0000094819" "0000153361" "0000094820" "0000153362" "0000094821" "0000153363" "0000094822" "0000153364" "0000094823" "0000153365" "0000094824" "0000153366" "0000094825" "0000153367" "0000094826" "0000153368" "0000094827" "0000153369" "0000094828" "0000153370" "0000094829" "0000153371" "0000094830" "0000153372" "0000094831" "0000153373" "0000094832" "0000153374" "0000094833" "0000153375" "0000094834" "0000153376" "0000094835" "0000153377" "0000094836" "0000153378" "0000094837" "0000153379" "0000094838" "0000153380" "0000094839" "0000153381" "0000094840" "0000153382" "0000094841" "0000153383" "0000094842" "0000153384" "0000094843" "0000153385" "0000094844" "0000153386" "0000094845" "0000153387" "0000094846" "0000153388" "0000094847" "0000153389" "0000094848" "0000153390" "0000094849" "0000153391" "0000094850" "0000153392" "0000094851" "0000153393" "0000094852" "0000153394" "0000094853" "0000153395" "0000094854" "0000153396" "0000094855" "0000153397" "0000094856" "0000153398" "0000094857" "0000153399" "0000094858" "0000153400" "0000094859" "0000153401" "0000094860" "0000153402" "0000094861" "0000153403" "0000094862" "0000153404" "0000094863" "0000153405" "0000094864" "0000153406" "0000094865" "0000153407" "0000094866" "0000153408" "0000094867" "0000153409" "0000094868" "0000153410" "0000094869" "0000153411" "0000094870" "0000153412" "0000094871" "0000153413" "0000094872" "0000153414" "0000094873" "0000153415" "0000094874" "0000153416" "0000094875" "0000153417" "0000094876" "0000153418" "0000094877" "0000153419" "0000094878" "0000153420" "0000094879" "0000153421" "0000094880" "0000153422" "0000094881" "0000153423" "0000094882" "0000153424" "0000094883" "0000153425" "0000094884" "0000153426" "0000094885" "0000153427" "0000094886" "0000153428" "0000094887" "0000153429" "0000094888" "0000153430" "0000094889" "0000153431" "0000094890" "0000153432" "0000094891" "0000153433" "0000094892" "0000153434" "0000094893" "0000153435" "0000094894" "0000153436" "0000094895" "0000153437" "0000094896" "0000153438" "0000094897" "0000153439" "0000094898" "0000153440" "0000094899" "0000153441" "0000094900" "0000153442" "0000094901" "0000153443" "0000094902" "0000153444" "0000094903" "0000153445" "0000094904" "0000153446" "0000094905" "0000153447" "0000094906" "0000153448" "0000094907" "0000153449" "0000094908" "0000153450" "0000094909" "0000153451" "0000094910" "0000153452" "0000094911" "0000153453" "0000094912" "0000153454" 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