### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ABCC11) # 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}}" "ABCC11" "ATP-binding cassette, sub-family C (CFTR/MRP), member 11" "16" "q12" "unknown" "NG_011522.1" "UD_132118990947" "" "https://www.LOVD.nl/ABCC11" "" "1" "14639" "85320" "607040" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.\r\nGraphical displays and utilities" "" "g" "https://databases.lovd.nl/shared/refseq/ABCC11_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2017-06-21 14:05:56" "00006" "2021-09-29 11:11:03" ## 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}}" "00001879" "ABCC11" "transcript variant 1" "002" "NM_032583.3" "" "NP_115972.2" "" "" "" "-64" "4512" "4149" "48269088" "48200822" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "01243" "ear wax dry" "secretion, gland, apocrine, variation in (ear wax wet/dry, colostrum secretion, axillary odor)" "AD" "117800" "" "autosomal recessive (G>A) dry ear wax type; presence or absence of axillary odor, variation in colostrum secretion" "" "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 = 1 "{{geneid}}" "{{diseaseid}}" "ABCC11" "01243" ## Individuals ## Do not remove or alter this header ## ## Count = 115 "{{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}}" "00050260" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "uninherited diplotypes" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050339" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00105226" "" "" "" "87" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "?" "no" "Japan" "" "0" "" "" "" "16444273-pops" "00105227" "" "" "" "1" "" "00006" "{PMID:Yoshiura 2006:16444273}" "2-generation family, dry ear wax mother and son" "M" "no" "Japan" "" "0" "" "" "" "16444273-EWd2" "00105228" "" "" "" "34" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "no" "Japan" "" "0" "" "" "" "16444273-EWd2" "00105229" "" "" "" "99" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Korea" "" "0" "" "" "Taegu" "16444273-pops" "00105230" "" "" "" "74" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "China" "" "0" "" "" "Han, North, Shanxi" "16444273-pops" "00105231" "" "" "" "110" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "China" "" "0" "" "" "Han, North, Jingsu" "16444273-pops" "00105232" "" "" "" "42" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "China" "" "0" "" "" "Han, North" "16444273-pops" "00105233" "" "" "" "93" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "China" "" "0" "" "" "Han, South, Fujian" "16444273-pops" "00105234" "" "" "" "76" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "China" "" "0" "" "" "Han, South, Guangdong" "16444273-pops" "00105235" "" "" "" "80" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "China" "" "0" "" "" "Han, South, Hunan" "16444273-pops" "00105236" "" "" "" "126" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Mongolia" "" "0" "" "" "Khalkha" "16444273-pops" "00105237" "" "" "" "87" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Japan" "" "0" "" "" "Nagasaki" "16444273-pops" "00105238" "" "" "" "30" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Japan" "" "0" "" "" "Okinawa" "16444273-pops" "00105239" "" "" "" "13" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Japan" "" "0" "" "" "Yonakuni" "16444273-pops" "00105240" "" "" "" "31" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Japan" "" "0" "" "" "Hokkaido, Ainu in Nibutani" "16444273-pops" "00105241" "" "" "" "82" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Viet Nam" "" "0" "" "" "" "16444273-pops" "00105242" "" "" "" "27" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "India" "" "0" "" "" "Dravidian, Tamil Nadu" "16444273-pops" "00105243" "" "" "" "25" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Thailand" "" "0" "" "" "North, Lahu tribe" "16444273-pops" "00105244" "" "" "" "13" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Thailand" "" "0" "" "" "North, Shan tribe" "16444273-pops" "00105245" "" "" "" "27" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Thailand" "" "0" "" "" "North, Lisu tribe" "16444273-pops" "00105246" "" "" "" "66" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Thailand" "" "0" "" "" "Mae-sot, Karen tribe" "16444273-pops" "00105247" "" "" "" "35" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Thailand" "" "0" "" "" "North, Hmong tribe" "16444273-pops" "00105248" "" "" "" "25" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Thailand" "" "0" "" "" "North, Akha tribe" "16444273-pops" "00105249" "" "" "" "24" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Thailand" "" "0" "" "" "North, Mlabri tribe" "16444273-pops" "00105250" "" "" "" "1" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Thailand" "" "0" "" "" "North, Urak Lawoi tribe" "16444273-pops" "00105251" "" "" "" "1" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Thailand" "" "0" "" "" "North, Sakai tribe" "16444273-pops" "00105252" "" "" "" "31" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Thailand" "" "0" "" "" "central, Bangkok" "16444273-pops" "00105253" "" "" "" "22" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Taiwan" "" "0" "" "" "Yami" "16444273-pops" "00105254" "" "" "" "12" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Taiwan" "" "0" "" "" "Ami" "16444273-pops" "00105255" "" "" "" "7" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Sri Lanka" "" "0" "" "" "Vedda" "16444273-pops" "00105256" "" "" "" "12" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Indonesia" "" "0" "" "" "Dayak, Kalimantan" "16444273-pops" "00105257" "" "" "" "17" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Indonesia" "" "0" "" "" "Toraja, Sulawesi" "16444273-pops" "00105258" "" "" "" "18" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Indonesia" "" "0" "" "" "Floresia" "16444273-pops" "00105259" "" "" "" "10" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Indonesia" "" "0" "" "" "Bugis, Sulawesi" "16444273-pops" "00105260" "" "" "" "9" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Indonesia" "" "0" "" "" "Sumban" "16444273-pops" "00105261" "" "" "" "24" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Malaysia" "" "0" "" "" "Borneo, north, Sabah" "16444273-pops" "00105262" "" "" "" "8" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Malaysia" "" "0" "" "" "Bentong" "16444273-pops" "00105263" "" "" "" "6" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "United States" "" "0" "" "" "native north American" "16444273-pops" "00105264" "" "" "" "11" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Philippines" "" "0" "" "" "" "16444273-pops" "00105265" "" "" "" "4" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "" "" "0" "" "" "East Islander" "16444273-pops" "00105266" "" "" "" "5" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Bolivia" "" "0" "" "" "" "16444273-pops" "00105267" "" "" "" "6" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Kazakhstan" "" "0" "" "" "Kazakh" "16444273-pops" "00105268" "" "" "" "2" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Paraguay" "" "0" "" "" "native, Ayoreos" "16444273-pops" "00105269" "" "" "" "5" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Russian Federation" "" "0" "" "" "" "16444273-pops" "00105270" "" "" "" "2" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Solomon Islands" "" "0" "" "" "" "16444273-pops" "00105271" "" "" "" "1" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "" "" "0" "" "" "Pacific islandes" "16444273-pops" "00105272" "" "" "" "1" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "France" "" "0" "" "" "" "16444273-pops" "00105273" "" "" "" "1" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "" "" "0" "" "" "South America, Andes" "16444273-pops" "00105274" "" "" "" "1" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Papua New Guinea" "" "0" "" "" "" "16444273-pops" "00105275" "" "" "" "1" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Vanuatu" "" "0" "" "" "Aneityum" "16444273-pops" "00105276" "" "" "" "1" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "United States" "" "0" "" "" "white" "16444273-pops" "00105277" "" "" "" "9" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "China" "" "0" "" "" "Han, North, Jingsu" "16444273-pops" "00105278" "" "" "" "10" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "China" "" "0" "" "" "Han, North" "16444273-pops" "00105279" "" "" "" "21" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "China" "" "0" "" "" "Han, South, Fujian" "16444273-pops" "00105280" "" "" "" "33" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "China" "" "0" "" "" "Han, South, Guangdong" "16444273-pops" "00105281" "" "" "" "9" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "China" "" "0" "" "" "Han, South, Hunan" "16444273-pops" "00105282" "" "" "" "36" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Mongolia" "" "0" "" "" "Khalkha" "16444273-pops" "00105283" "" "" "" "35" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Japan" "" "0" "" "" "Nagasaki" "16444273-pops" "00105284" "" "" "" "25" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Japan" "" "0" "" "" "Okinawa" "16444273-pops" "00105285" "" "" "" "15" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Japan" "" "0" "" "" "Yonakuni" "16444273-pops" "00105286" "" "" "" "23" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Japan" "" "0" "" "" "Hokkaido, Ainu in Nibutani" "16444273-pops" "00105287" "" "" "" "60" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Viet Nam" "" "0" "" "" "" "16444273-pops" "00105288" "" "" "" "17" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "India" "" "0" "" "" "Dravidian, Tamil Nadu" "16444273-pops" "00105289" "" "" "" "17" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Thailand" "" "0" "" "" "North, Lahu tribe" "16444273-pops" "00105290" "" "" "" "25" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Thailand" "" "0" "" "" "North, Shan tribe" "16444273-pops" "00105291" "" "" "" "18" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Thailand" "" "0" "" "" "North, Lisu tribe" "16444273-pops" "00105292" "" "" "" "51" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Thailand" "" "0" "" "" "Mae-sot, Karen tribe" "16444273-pops" "00105293" "" "" "" "10" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Thailand" "" "0" "" "" "North, Hmong tribe" "16444273-pops" "00105294" "" "" "" "18" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Thailand" "" "0" "" "" "North, Akha tribe" "16444273-pops" "00105295" "" "" "" "24" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Thailand" "" "0" "" "" "North, Mlabri tribe" "16444273-pops" "00105296" "" "" "" "10" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Thailand" "" "0" "" "" "North, Urak Lawoi tribe" "16444273-pops" "00105297" "" "" "" "13" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Thailand" "" "0" "" "" "North, Sakai tribe" "16444273-pops" "00105298" "" "" "" "10" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Thailand" "" "0" "" "" "central, Bangkok" "16444273-pops" "00105299" "" "" "" "24" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Taiwan" "" "0" "" "" "Yami" "16444273-pops" "00105300" "" "" "" "24" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Taiwan" "" "0" "" "" "Ami" "16444273-pops" "00105301" "" "" "" "12" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Sri Lanka" "" "0" "" "" "Vedda" "16444273-pops" "00105302" "" "" "" "23" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Indonesia" "" "0" "" "" "Dayak, Kalimantan" "16444273-pops" "00105303" "" "" "" "20" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Indonesia" "" "0" "" "" "Toraja, Sulawesi" "16444273-pops" "00105304" "" "" "" "25" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Indonesia" "" "0" "" "" "Floresia" "16444273-pops" "00105305" "" "" "" "29" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Indonesia" "" "0" "" "" "Bugis, Sulawesi" "16444273-pops" "00105306" "" "" "" "16" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Indonesia" "" "0" "" "" "Sumban" "16444273-pops" "00105307" "" "" "" "2" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Indonesia" "" "0" "" "" "Dani, Irian Jaya" "16444273-pops" "00105308" "" "" "" "27" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Malaysia" "" "0" "" "" "Borneo, north, Sabah" "16444273-pops" "00105309" "" "" "" "40" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Malaysia" "" "0" "" "" "Bentong" "16444273-pops" "00105310" "" "" "" "8" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "United States" "" "0" "" "" "native north American" "16444273-pops" "00105311" "" "" "" "23" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Philippines" "" "0" "" "" "" "16444273-pops" "00105312" "" "" "" "18" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "" "" "0" "" "" "East Islander" "16444273-pops" "00105313" "" "" "" "14" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Bolivia" "" "0" "" "" "" "16444273-pops" "00105314" "" "" "" "11" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Kazakhstan" "" "0" "" "" "Kazakh" "16444273-pops" "00105315" "" "" "" "34" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Paraguay" "" "0" "" "" "native, Ayoreos" "16444273-pops" "00105316" "" "" "" "14" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Paraguay" "" "0" "" "" "native, Sanapana" "16444273-pops" "00105317" "" "" "" "45" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Russian Federation" "" "0" "" "" "" "16444273-pops" "00105318" "" "" "" "25" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Solomon Islands" "" "0" "" "" "" "16444273-pops" "00105319" "" "" "" "1" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "" "" "0" "" "" "Pacific islandes" "16444273-pops" "00105320" "" "" "" "3" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "France" "" "0" "" "" "" "16444273-pops" "00105321" "" "" "" "2" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "" "" "0" "" "" "South America, Andes" "16444273-pops" "00105322" "" "" "" "4" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Hungary" "" "0" "" "" "" "16444273-pops" "00105323" "" "" "" "4" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "" "" "0" "" "" "Jewish-Ashkenazi" "16444273-pops" "00105324" "" "" "" "15" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Ukraine" "" "0" "" "" "" "16444273-pops" "00105325" "" "" "" "11" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Papua New Guinea" "" "0" "" "" "" "16444273-pops" "00105326" "" "" "" "8" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Vanuatu" "" "0" "" "" "Aneityum" "16444273-pops" "00105327" "" "" "" "9" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Vanuatu" "" "0" "" "" "Santo" "16444273-pops" "00105328" "" "" "" "16" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "United States" "" "0" "" "" "white" "16444273-pops" "00105329" "" "" "" "3" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Venezuela" "" "0" "" "" "Ye\'Kuana" "16444273-pops" "00105330" "" "" "" "2" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "" "" "0" "" "" "Iberia" "16444273-pops" "00105331" "" "" "" "2" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Colombia" "" "0" "" "" "" "16444273-pops" "00105332" "" "" "" "1" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "" "" "0" "" "" "Africa, Sub-Sahara" "16444273-pops" "00105333" "" "" "" "1" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Japan" "" "0" "" "" "Nagasaki" "16444273-pops" "00105334" "" "" "" "1" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Thailand" "" "0" "" "" "central, Bangkok" "16444273-pops" "00105335" "" "" "" "2" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "United States" "" "0" "" "" "native north American" "16444273-pops" "00105336" "" "" "" "9" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "Bolivia" "" "0" "" "" "" "16444273-pops" "00105337" "" "" "" "1" "" "00006" "{PMID:Yoshiura 2006:16444273}" "" "" "" "" "" "0" "" "" "South America, Andes" "16444273-pops" "00147176" "" "" "" "1" "" "00006" "{PMID:Rodriguez 2013:23325016}" "ALSPAC" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "23325016-Ind" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 114 "{{individualid}}" "{{diseaseid}}" "00050260" "00198" "00050339" "00198" "00105226" "01243" "00105227" "01243" "00105228" "00198" "00105229" "01243" "00105230" "01243" "00105231" "01243" "00105232" "01243" "00105233" "01243" "00105234" "01243" "00105235" "01243" "00105236" "01243" "00105237" "01243" "00105238" "01243" "00105239" "01243" "00105240" "01243" "00105241" "01243" "00105242" "01243" "00105243" "01243" "00105244" "01243" "00105245" "01243" "00105246" "01243" "00105247" "01243" "00105248" "01243" "00105249" "01243" "00105250" "01243" "00105251" "01243" "00105252" "01243" "00105253" "01243" "00105254" "01243" "00105255" "01243" "00105256" "01243" "00105257" "01243" "00105258" "01243" "00105259" "01243" "00105260" "01243" "00105261" "01243" "00105262" "01243" "00105263" "01243" "00105264" "01243" "00105265" "01243" "00105266" "01243" "00105267" "01243" "00105268" "01243" "00105269" "01243" "00105270" "01243" "00105271" "01243" "00105272" "01243" "00105273" "01243" "00105274" "01243" "00105275" "01243" "00105276" "01243" "00105277" "00198" "00105278" "00198" "00105279" "00198" "00105280" "00198" "00105281" "00198" "00105282" "00198" "00105283" "00198" "00105284" "00198" "00105285" "00198" "00105286" "00198" "00105287" "00198" "00105288" "00198" "00105289" "00198" "00105290" "00198" "00105291" "00198" "00105292" "00198" "00105293" "00198" "00105294" "00198" "00105295" "00198" "00105296" "00198" "00105297" "00198" "00105298" "00198" "00105299" "00198" "00105300" "00198" "00105301" "00198" "00105302" "00198" "00105303" "00198" "00105304" "00198" "00105305" "00198" "00105306" "00198" "00105307" "00198" "00105308" "00198" "00105309" "00198" "00105310" "00198" "00105311" "00198" "00105312" "00198" "00105313" "00198" "00105314" "00198" "00105315" "00198" "00105316" "00198" "00105317" "00198" "00105318" "00198" "00105319" "00198" "00105320" "00198" "00105321" "00198" "00105322" "00198" "00105323" "00198" "00105324" "00198" "00105325" "00198" "00105326" "00198" "00105327" "00198" "00105328" "00198" "00105329" "00198" "00105330" "00198" "00105331" "00198" "00105332" "00198" "00105333" "00198" "00105334" "00198" "00105335" "00198" "00105336" "00198" "00105337" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01243 ## Count = 114 "{{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}}" "0000036872" "00198" "00050260" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000036951" "00198" "00050339" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000083119" "01243" "00105226" "00006" "Familial, autosomal recessive" "" "ear wax, dry" "" "" "" "" "" "" "" "" "" "" "" "0000083120" "01243" "00105227" "00006" "Familial, autosomal recessive" "" "ear wax, dry" "" "" "" "" "" "" "" "" "" "" "" "0000083121" "00198" "00105228" "00006" "Unknown" "" "ear wax, wet" "" "" "" "" "" "" "" "" "" "" "" "0000083122" "01243" "00105229" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083123" "01243" "00105230" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083124" "01243" "00105231" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083125" "01243" "00105232" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083126" "01243" "00105233" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083127" "01243" "00105234" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083128" "01243" "00105235" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083129" "01243" "00105236" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083130" "01243" "00105237" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083131" "01243" "00105238" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083132" "01243" "00105239" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083133" "01243" "00105240" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083134" "01243" "00105241" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083135" "01243" "00105242" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083136" "01243" "00105243" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083137" "01243" "00105244" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083138" "01243" "00105245" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083139" "01243" "00105246" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083140" "01243" "00105247" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083141" "01243" "00105248" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083142" "01243" "00105249" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083143" "01243" "00105250" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083144" "01243" "00105251" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083145" "01243" "00105252" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083146" "01243" "00105253" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083147" "01243" "00105254" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083148" "01243" "00105255" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083149" "01243" "00105256" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083150" "01243" "00105257" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083151" "01243" "00105258" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083152" "01243" "00105259" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083153" "01243" "00105260" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083154" "01243" "00105261" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083155" "01243" "00105262" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083156" "01243" "00105263" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083157" "01243" "00105264" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083158" "01243" "00105265" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083159" "01243" "00105266" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083160" "01243" "00105267" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083161" "01243" "00105268" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083162" "01243" "00105269" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083163" "01243" "00105270" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083164" "01243" "00105271" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083165" "01243" "00105272" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083166" "01243" "00105273" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083167" "01243" "00105274" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083168" "01243" "00105275" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083169" "01243" "00105276" "00006" "Familial, autosomal recessive" "" "ear wax (dry)" "" "" "" "" "" "" "" "" "" "" "" "0000083170" "00198" "00105277" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083171" "00198" "00105278" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083172" "00198" "00105279" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083173" "00198" "00105280" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083174" "00198" "00105281" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083175" "00198" "00105282" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083176" "00198" "00105283" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083177" "00198" "00105284" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083178" "00198" "00105285" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083179" "00198" "00105286" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083180" "00198" "00105287" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083181" "00198" "00105288" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083182" "00198" "00105289" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083183" "00198" "00105290" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083184" "00198" "00105291" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083185" "00198" "00105292" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083186" "00198" "00105293" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083187" "00198" "00105294" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083188" "00198" "00105295" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083189" "00198" "00105296" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083190" "00198" "00105297" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083191" "00198" "00105298" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083192" "00198" "00105299" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083193" "00198" "00105300" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083194" "00198" "00105301" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083195" "00198" "00105302" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083196" "00198" "00105303" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083197" "00198" "00105304" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083198" "00198" "00105305" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083199" "00198" "00105306" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083200" "00198" "00105307" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083201" "00198" "00105308" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083202" "00198" "00105309" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083203" "00198" "00105310" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083204" "00198" "00105311" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083205" "00198" "00105312" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083206" "00198" "00105313" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083207" "00198" "00105314" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083208" "00198" "00105315" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083209" "00198" "00105316" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083210" "00198" "00105317" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083211" "00198" "00105318" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083212" "00198" "00105319" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083213" "00198" "00105320" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083214" "00198" "00105321" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083215" "00198" "00105322" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083216" "00198" "00105323" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083217" "00198" "00105324" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083218" "00198" "00105325" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083219" "00198" "00105326" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083220" "00198" "00105327" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083221" "00198" "00105328" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083222" "00198" "00105329" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083223" "00198" "00105330" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083224" "00198" "00105331" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083225" "00198" "00105332" "00006" "Unknown" "" "ear wax (wet)" "" "" "" "" "" "" "" "" "" "" "" "0000083226" "00198" "00105333" "00006" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000083227" "00198" "00105334" "00006" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000083228" "00198" "00105335" "00006" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000083229" "00198" "00105336" "00006" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000083230" "00198" "00105337" "00006" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 115 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050205" "00050260" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050284" "00050339" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000105696" "00105226" "1" "00006" "00006" "2012-09-08 21:10:35" "00006" "2012-09-08 21:12:49" "SEQ" "DNA" "" "" "0000105697" "00105227" "1" "00006" "00006" "2012-09-08 21:10:35" "00006" "2012-09-08 21:12:49" "SEQ" "DNA" "" "" "0000105698" "00105228" "1" "00006" "00006" "2012-09-08 21:10:35" "00006" "2012-09-08 21:12:49" "SEQ" "DNA" "" "" "0000105699" "00105229" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105700" "00105230" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105701" "00105231" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105702" "00105232" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105703" "00105233" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105704" "00105234" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105705" "00105235" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105706" "00105236" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105707" "00105237" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105708" "00105238" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105709" "00105239" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105710" "00105240" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105711" "00105241" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105712" "00105242" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105713" "00105243" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105714" "00105244" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105715" "00105245" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105716" "00105246" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105717" "00105247" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105718" "00105248" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105719" "00105249" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105720" "00105250" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105721" "00105251" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105722" "00105252" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105723" "00105253" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105724" "00105254" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105725" "00105255" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105726" "00105256" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105727" "00105257" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105728" "00105258" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105729" "00105259" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105730" "00105260" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105731" "00105261" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105732" "00105262" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105733" "00105263" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105734" "00105264" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105735" "00105265" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105736" "00105266" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105737" "00105267" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105738" "00105268" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105739" "00105269" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105740" "00105270" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105741" "00105271" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105742" "00105272" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105743" "00105273" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105744" "00105274" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105745" "00105275" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105746" "00105276" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105747" "00105277" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105748" "00105278" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105749" "00105279" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105750" "00105280" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105751" "00105281" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105752" "00105282" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105753" "00105283" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105754" "00105284" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105755" "00105285" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105756" "00105286" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105757" "00105287" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105758" "00105288" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105759" "00105289" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105760" "00105290" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105761" "00105291" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105762" "00105292" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105763" "00105293" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105764" "00105294" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105765" "00105295" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105766" "00105296" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105767" "00105297" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105768" "00105298" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105769" "00105299" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105770" "00105300" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105771" "00105301" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105772" "00105302" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105773" "00105303" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105774" "00105304" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105775" "00105305" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105776" "00105306" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105777" "00105307" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105778" "00105308" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105779" "00105309" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105780" "00105310" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105781" "00105311" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105782" "00105312" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105783" "00105313" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105784" "00105314" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105785" "00105315" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105786" "00105316" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105787" "00105317" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105788" "00105318" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105789" "00105319" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105790" "00105320" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105791" "00105321" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105792" "00105322" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105793" "00105323" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105794" "00105324" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105795" "00105325" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105796" "00105326" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105797" "00105327" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105798" "00105328" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105799" "00105329" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105800" "00105330" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105801" "00105331" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105802" "00105332" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105803" "00105333" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105804" "00105334" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105805" "00105335" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105806" "00105336" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000105807" "00105337" "1" "00006" "00006" "2012-09-09 11:53:07" "" "" "SEQ" "DNA" "" "" "0000148031" "00147176" "1" "00006" "00006" "2018-01-02 16:55:51" "" "" "PCR" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 115 "{{screeningid}}" "{{geneid}}" "0000050205" "ABCC11" "0000050284" "ABCC11" "0000105696" "ABCC11" "0000105697" "ABCC11" "0000105698" "ABCC11" "0000105699" "ABCC11" "0000105700" "ABCC11" "0000105701" "ABCC11" "0000105702" "ABCC11" "0000105703" "ABCC11" "0000105704" "ABCC11" "0000105705" "ABCC11" "0000105706" "ABCC11" "0000105707" "ABCC11" "0000105708" "ABCC11" "0000105709" "ABCC11" "0000105710" "ABCC11" "0000105711" "ABCC11" "0000105712" "ABCC11" "0000105713" "ABCC11" "0000105714" "ABCC11" "0000105715" "ABCC11" "0000105716" "ABCC11" "0000105717" "ABCC11" "0000105718" "ABCC11" "0000105719" "ABCC11" "0000105720" "ABCC11" "0000105721" "ABCC11" "0000105722" "ABCC11" "0000105723" "ABCC11" "0000105724" "ABCC11" "0000105725" "ABCC11" "0000105726" "ABCC11" "0000105727" "ABCC11" "0000105728" "ABCC11" "0000105729" "ABCC11" "0000105730" "ABCC11" "0000105731" "ABCC11" "0000105732" "ABCC11" "0000105733" "ABCC11" "0000105734" "ABCC11" "0000105735" "ABCC11" "0000105736" "ABCC11" "0000105737" "ABCC11" "0000105738" "ABCC11" "0000105739" "ABCC11" "0000105740" "ABCC11" "0000105741" "ABCC11" "0000105742" "ABCC11" "0000105743" "ABCC11" "0000105744" "ABCC11" "0000105745" "ABCC11" "0000105746" "ABCC11" "0000105747" "ABCC11" "0000105748" "ABCC11" "0000105749" "ABCC11" "0000105750" "ABCC11" "0000105751" "ABCC11" "0000105752" "ABCC11" "0000105753" "ABCC11" "0000105754" "ABCC11" "0000105755" "ABCC11" "0000105756" "ABCC11" "0000105757" "ABCC11" "0000105758" "ABCC11" "0000105759" "ABCC11" "0000105760" "ABCC11" "0000105761" "ABCC11" "0000105762" "ABCC11" "0000105763" "ABCC11" "0000105764" "ABCC11" "0000105765" "ABCC11" "0000105766" "ABCC11" "0000105767" "ABCC11" "0000105768" "ABCC11" "0000105769" "ABCC11" "0000105770" "ABCC11" "0000105771" "ABCC11" "0000105772" "ABCC11" "0000105773" "ABCC11" "0000105774" "ABCC11" "0000105775" "ABCC11" "0000105776" "ABCC11" "0000105777" "ABCC11" "0000105778" "ABCC11" "0000105779" "ABCC11" "0000105780" "ABCC11" "0000105781" "ABCC11" "0000105782" "ABCC11" "0000105783" "ABCC11" "0000105784" "ABCC11" "0000105785" "ABCC11" "0000105786" "ABCC11" "0000105787" "ABCC11" "0000105788" "ABCC11" "0000105789" "ABCC11" "0000105790" "ABCC11" "0000105791" "ABCC11" "0000105792" "ABCC11" "0000105793" "ABCC11" "0000105794" "ABCC11" "0000105795" "ABCC11" "0000105796" "ABCC11" "0000105797" "ABCC11" "0000105798" "ABCC11" "0000105799" "ABCC11" "0000105800" "ABCC11" "0000105801" "ABCC11" "0000105802" "ABCC11" "0000105803" "ABCC11" "0000105804" "ABCC11" "0000105805" "ABCC11" "0000105806" "ABCC11" "0000105807" "ABCC11" "0000148031" "ABCC11" ## 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 = 120 "{{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}}" "0000079157" "3" "90" "16" "48204130" "48204130" "subst" "0.0110614" "00006" "ABCC11_000003" "g.48204130C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.48170219C>T" "" "pathogenic" "" "0000079236" "1" "90" "16" "48204130" "48204130" "subst" "0.0110614" "00006" "ABCC11_000003" "g.48204130C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.48170219C>T" "" "pathogenic" "" "0000079264" "2" "90" "16" "48221232" "48221232" "subst" "0.00115782" "00006" "ABCC11_000004" "g.48221232G>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.48187321G>C" "" "pathogenic" "" "0000171153" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "87/126 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171154" "3" "99" "16" "48201500" "48201526" "del" "0" "00006" "ABCC11_000002" "g.48201500_48201526del" "1/126 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "3939–3965del27" "" "Germline" "" "" "0" "" "" "g.48167589_48167615del" "" "pathogenic" "" "0000171155" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "34/126 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171156" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "99/99 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171157" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "74/74 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171158" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "110/119 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171159" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "42/52 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171160" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "93/118 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171161" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "76/111 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171162" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "80/103 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171163" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "126/166 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171164" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "87/126 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171165" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "30/58 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171166" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "13/30 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171167" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "31/56 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171168" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "82/153 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171169" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "27/50 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171170" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "25/48 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171171" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "13/48 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171172" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "27/48 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171173" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "66/128 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171174" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "35/48 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171175" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "25/49 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171176" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "24/57 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171177" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "1/51 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171178" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "1/26 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171179" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "31/49 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171180" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "22/52 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171181" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "12/51 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171182" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "7/20 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171183" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "12/41 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171184" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "17/49 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171185" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "18/60 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171186" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "10/51 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171187" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "9/50 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171188" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "24/61 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171189" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "8/71 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171190" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "6/20 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171191" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "11/48 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171192" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "4/29 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171193" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "5/30 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171194" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "6/30 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171195" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "2/50 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171196" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "5/112 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171197" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "2/62 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171198" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "1/7 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171199" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "1/12 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171200" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "1/10 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171201" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "1/38 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171202" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "1/45 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171203" "3" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "1/82 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171204" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "9/119 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171205" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "10/52 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171206" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "21/118 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171207" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "33/111 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171208" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "9/103 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171209" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "36/166 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171210" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "35/126 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171211" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "25/58 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171212" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "15/30 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171213" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "23/56 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171214" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "60/153 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171215" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "17/50 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171216" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "17/48 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171217" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "25/48 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171218" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "18/48 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171219" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "51/128 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171220" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "10/48 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171221" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "18/49 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171222" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "24/57 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171223" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "10/51 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171224" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "13/26 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171225" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "10/49 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171226" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "24/52 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171227" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "24/51 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171228" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "12/20 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171229" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "23/41 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171230" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "20/49 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171231" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "25/60 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171232" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "29/51 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171233" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "16/50 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171234" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "2/33 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "0/33 homozygotes" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171235" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "27/61 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171236" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "40/71 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171237" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "8/20 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171238" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "23/48 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171239" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "18/29 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171240" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "14/30 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171241" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "11/30 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171242" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "34/50 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171243" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "14/75 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "0/75 homozygotes" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171244" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "45/112 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171245" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "25/62 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171246" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "1/7 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171247" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "3/12 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171248" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "2/10 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171249" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "4/10 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "0/10 homozygotes" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171250" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "4/10 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "0/10 homozygotes" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171251" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "15/42 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "0/42 homozygotes" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171252" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "11/38 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171253" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "8/45 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171254" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "9/47 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "0/47 homozygotes" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171255" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "16/82 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171256" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "3/24 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171257" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "2/10 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "0/10 homozygotes" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171258" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "2/17 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "0/17 homozygotes" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171259" "1" "99" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "1/11 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "" "0/11 homozygotes" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "pathogenic" "" "0000171260" "0" "99" "16" "48201500" "48201526" "del" "0" "00006" "ABCC11_000002" "g.48201500_48201526del" "1/668 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "3939–3965del27" "" "Germline" "" "" "0" "" "" "g.48167589_48167615del" "" "pathogenic" "" "0000171261" "0" "99" "16" "48201500" "48201526" "del" "0" "00006" "ABCC11_000002" "g.48201500_48201526del" "1/100 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "3939–3965del27" "" "Germline" "" "" "0" "" "" "g.48167589_48167615del" "" "pathogenic" "" "0000171262" "0" "99" "16" "48201500" "48201526" "del" "0" "00006" "ABCC11_000002" "g.48201500_48201526del" "2/40 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "3939–3965del27" "" "Germline" "" "" "0" "" "" "g.48167589_48167615del" "" "pathogenic" "" "0000171263" "0" "99" "16" "48201500" "48201526" "del" "0" "00006" "ABCC11_000002" "g.48201500_48201526del" "9/60 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "3939–3965del27" "" "Germline" "" "" "0" "" "" "g.48167589_48167615del" "" "pathogenic" "" "0000171264" "0" "99" "16" "48201500" "48201526" "del" "0" "00006" "ABCC11_000002" "g.48201500_48201526del" "1/20 individuals" "{PMID:Yoshiura 2006:16444273}, {OMIM607040:0001}" "" "3939–3965del27" "" "Germline" "" "" "0" "" "" "g.48167589_48167615del" "" "pathogenic" "" "0000241335" "3" "90" "16" "48258198" "48258198" "subst" "0.223433" "00006" "ABCC11_000001" "g.48258198C>T" "" "{PMID:Rodriguez 2013:23325016}" "" "" "associated with never using deodorant/using it infrequently" "Germline" "" "rs17822931" "0" "" "" "g.48224287C>T" "" "association" "" "0000258844" "0" "10" "16" "48258198" "48258198" "subst" "0.223433" "02325" "ABCC11_000001" "g.48258198C>T" "" "" "" "ABCC11(NM_033151.4):c.538G>A (p.G180R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48224287C>T" "" "benign" "" "0000558280" "0" "50" "16" "48232185" "48232185" "subst" "0.000337223" "01943" "ABCC11_000005" "g.48232185T>C" "" "" "" "ABCC11(NM_033151.3):c.2084A>G (p.Y695C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48198274T>C" "" "VUS" "" "0000657855" "0" "30" "16" "48239443" "48239443" "subst" "0.000315096" "01943" "ABCC11_000006" "g.48239443G>T" "" "" "" "ABCC11(NM_033151.3):c.1686C>A (p.H562Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48205532G>T" "" "likely benign" "" "0000657856" "0" "50" "16" "48249113" "48249113" "subst" "1.22059E-5" "01943" "ABCC11_000007" "g.48249113A>G" "" "" "" "ABCC11(NM_033151.3):c.1094T>C (p.I365T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48215202A>G" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ABCC11 ## Count = 120 "{{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}}" "0000079157" "00001879" "00" "3778" "-1" "3778" "-1" "c.3778-1G>A" "r.spl?" "p.?" "" "0000079236" "00001879" "00" "3778" "-1" "3778" "-1" "c.3778-1G>A" "r.spl?" "p.?" "" "0000079264" "00001879" "00" "2813" "0" "2813" "0" "c.2813C>G" "r.(?)" "p.(Ser938*)" "" "0000171153" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171154" "00001879" "99" "3939" "0" "3965" "0" "c.3939_3965del" "r.(?)" "p.(Asp1303_Arg1320del)" "27" "0000171155" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171156" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171157" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171158" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171159" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171160" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171161" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171162" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171163" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171164" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171165" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171166" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171167" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171168" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171169" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171170" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171171" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171172" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171173" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171174" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171175" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171176" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171177" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171178" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171179" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171180" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171181" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171182" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171183" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171184" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171185" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171186" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171187" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171188" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171189" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171190" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171191" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171192" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171193" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171194" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171195" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171196" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171197" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171198" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171199" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171200" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171201" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171202" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171203" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171204" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171205" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171206" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171207" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171208" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171209" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171210" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171211" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171212" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171213" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171214" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171215" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171216" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171217" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171218" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171219" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171220" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171221" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171222" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171223" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171224" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171225" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171226" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171227" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171228" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171229" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171230" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171231" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171232" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171233" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171234" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171235" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171236" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171237" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171238" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171239" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171240" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171241" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171242" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171243" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171244" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171245" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171246" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171247" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171248" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171249" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171250" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171251" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171252" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171253" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171254" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171255" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171256" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171257" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171258" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171259" "00001879" "99" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000171260" "00001879" "99" "3939" "0" "3965" "0" "c.3939_3965del" "r.(?)" "p.(Asp1303_Arg1320del)" "27" "0000171261" "00001879" "99" "3939" "0" "3965" "0" "c.3939_3965del" "r.(?)" "p.(Asp1303_Arg1320del)" "27" "0000171262" "00001879" "99" "3939" "0" "3965" "0" "c.3939_3965del" "r.(?)" "p.(Asp1303_Arg1320del)" "27" "0000171263" "00001879" "99" "3939" "0" "3965" "0" "c.3939_3965del" "r.(?)" "p.(Asp1303_Arg1320del)" "27" "0000171264" "00001879" "99" "3939" "0" "3965" "0" "c.3939_3965del" "r.(?)" "p.(Asp1303_Arg1320del)" "27" "0000241335" "00001879" "90" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "5" "0000258844" "00001879" "10" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" "" "0000558280" "00001879" "50" "2084" "0" "2084" "0" "c.2084A>G" "r.(?)" "p.(Tyr695Cys)" "" "0000657855" "00001879" "30" "1686" "0" "1686" "0" "c.1686C>A" "r.(?)" "p.(His562Gln)" "" "0000657856" "00001879" "50" "1094" "0" "1094" "0" "c.1094T>C" "r.(?)" "p.(Ile365Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 116 "{{screeningid}}" "{{variantid}}" "0000050205" "0000079157" "0000050284" "0000079236" "0000050284" "0000079264" "0000105696" "0000171153" "0000105697" "0000171154" "0000105698" "0000171155" "0000105699" "0000171156" "0000105700" "0000171157" "0000105701" "0000171158" "0000105702" "0000171159" "0000105703" "0000171160" "0000105704" "0000171161" "0000105705" "0000171162" "0000105706" "0000171163" "0000105707" "0000171164" "0000105708" "0000171165" "0000105709" "0000171166" "0000105710" "0000171167" "0000105711" "0000171168" "0000105712" "0000171169" "0000105713" "0000171170" "0000105714" "0000171171" "0000105715" "0000171172" "0000105716" "0000171173" "0000105717" "0000171174" "0000105718" "0000171175" "0000105719" "0000171176" "0000105720" "0000171177" "0000105721" "0000171178" "0000105722" "0000171179" "0000105723" "0000171180" "0000105724" "0000171181" "0000105725" "0000171182" "0000105726" "0000171183" "0000105727" "0000171184" "0000105728" "0000171185" "0000105729" "0000171186" "0000105730" "0000171187" "0000105731" "0000171188" "0000105732" "0000171189" "0000105733" "0000171190" "0000105734" "0000171191" "0000105735" "0000171192" "0000105736" "0000171193" "0000105737" "0000171194" "0000105738" "0000171195" "0000105739" "0000171196" "0000105740" "0000171197" "0000105741" "0000171198" "0000105742" "0000171199" "0000105743" "0000171200" "0000105744" "0000171201" "0000105745" "0000171202" "0000105746" "0000171203" "0000105747" "0000171204" "0000105748" "0000171205" "0000105749" "0000171206" "0000105750" "0000171207" "0000105751" "0000171208" "0000105752" "0000171209" "0000105753" "0000171210" "0000105754" "0000171211" "0000105755" "0000171212" "0000105756" "0000171213" "0000105757" "0000171214" "0000105758" "0000171215" "0000105759" "0000171216" "0000105760" "0000171217" "0000105761" "0000171218" "0000105762" "0000171219" "0000105763" "0000171220" "0000105764" "0000171221" "0000105765" "0000171222" "0000105766" "0000171223" "0000105767" "0000171224" "0000105768" "0000171225" "0000105769" "0000171226" "0000105770" "0000171227" "0000105771" "0000171228" "0000105772" "0000171229" "0000105773" "0000171230" "0000105774" "0000171231" "0000105775" "0000171232" "0000105776" "0000171233" "0000105777" "0000171234" "0000105778" "0000171235" "0000105779" "0000171236" "0000105780" "0000171237" "0000105781" "0000171238" "0000105782" "0000171239" "0000105783" "0000171240" "0000105784" "0000171241" "0000105785" "0000171242" "0000105786" "0000171243" "0000105787" "0000171244" "0000105788" "0000171245" "0000105789" "0000171246" "0000105790" "0000171247" "0000105791" "0000171248" "0000105792" "0000171249" "0000105793" "0000171250" "0000105794" "0000171251" "0000105795" "0000171252" "0000105796" "0000171253" "0000105797" "0000171254" "0000105798" "0000171255" "0000105799" "0000171256" "0000105800" "0000171257" "0000105801" "0000171258" "0000105802" "0000171259" "0000105803" "0000171260" "0000105804" "0000171261" "0000105805" "0000171262" "0000105806" "0000171263" "0000105807" "0000171264" "0000148031" "0000241335"