### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PCCB) # 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}}" "PCCB" "propionyl CoA carboxylase, beta polypeptide" "3" "q21-q22" "unknown" "NG_008939.1" "UD_132084457343" "" "https://www.LOVD.nl/PCCB" "Propionyl CoA Carboxylase databases " "1" "8654" "5096" "232050" "1" "1" "1" "1" "For this database we have collaborated with the Kraus lab and their databases for deficiency of cystathionine beta-synthase (CBS) and propionyl CoA carboxylase (PCC). Most data collected derive from the PCCB database (Jan P. Kraus, Sarah Venezia & Mirek Janosik) and we refer to the original source for more detailed information.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PCCB_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2021-04-29 09:47:29" "00000" "2025-11-01 13:22:20" ## 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}}" "00015734" "PCCB" "transcript variant 1" "002" "NM_000532.4" "" "NP_000523.2" "" "" "" "-51" "1765" "1620" "135969167" "136049013" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02554" "metabolic syndrome" "metabolic syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-15 15:48:08" "02571" "-" "acidemia, propionic" "AR" "606054" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PCCB" "02571" ## Individuals ## Do not remove or alter this header ## ## Count = 199 "{{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}}" "00019901" "" "" "" "1" "" "00705" "{PMID:Gilissen 2014:24896178}" "" "?" "?" "" "" "0" "" "" "" "" "00104050" "" "" "" "1" "" "01965" "" "" "" "" "" "" "0" "" "" "" "" "00104078" "" "" "" "1" "" "01968" "" "" "" "" "" "" "0" "" "" "" "p1" "00104079" "" "" "" "1" "" "01968" "" "" "" "" "" "" "0" "" "" "" "?" "00104080" "" "" "" "1" "" "01968" "" "" "" "" "" "" "0" "" "" "" "p3" "00104081" "" "" "" "1" "" "00006" "{PMID:Lamhonwah 1990:2249848}" "" "" "" "" "" "0" "" "" "" "02249848-539" "00104082" "" "" "" "1" "" "00006" "{PMID:Lamhonwah 1990:2249848}" "" "" "" "" "" "0" "" "" "white" "02249848-453CE" "00104083" "" "" "" "1" "" "00006" "{PMID:Lamhonwah 1990:2249848}" "" "" "" "" "" "0" "" "" "white" "02249848-500LS" "00104084" "" "" "" "1" "" "00006" "{PMID:Lamhonwah 1990:2249848}" "" "" "" "" "" "0" "" "" "white" "02249848-3088JL" "00104085" "" "" "" "1" "" "00006" "{PMID:Tahara 1990:2154743}" "" "" "" "(United States)" "" "0" "" "" "white" "02154743-pccBC519" "00104086" "" "" "" "1" "" "00006" "{PMID:Tahara 1990:2154743}" "" "" "" "(United States)" "" "0" "" "" "white" "02154743-pccBC534" "00104087" "" "" "" "1" "" "00006" "{PMID:Tahara 1990:2154743}" "" "" "" "(United States)" "" "0" "" "" "white" "02154743-pccBC1747" "00104088" "" "" "" "1" "" "00006" "{PMID:Tahara 1990:2154743}" "" "" "" "(United States)" "" "0" "" "" "white" "02154743-pccC467" "00104089" "" "" "" "1" "" "00006" "{PMID:Tahara 1990:2154743}" "" "" "" "(United States)" "" "0" "" "" "white" "02154743-pccC543" "00104090" "" "" "" "1" "" "00006" "{PMID:Tahara 1990:2154743}" "sib of 02154743-pccC576" "" "" "(United States)" "" "0" "" "" "white" "02154743-pccC572" "00104091" "" "" "" "1" "" "00006" "{PMID:Tahara 1990:2154743}" "sib of 02154743-pccC572" "" "" "(United States)" "" "0" "" "" "white" "02154743-pccC756" "00104092" "" "" "" "1" "" "00006" "{PMID:Tahara 1990:2154743}" "" "" "" "(United States)" "" "0" "" "" "white" "02154743-pccC1752" "00104093" "" "" "" "2" "" "00006" "{PMID:Tahara 1993:8411997}" "" "" "" "Japan" "" "0" "" "" "" "08411997-J113" "00104094" "" "" "" "1" "" "00006" "{PMID:Tahara 1993:8411997}" "sib of 08411997-J171" "" "" "Japan" "" "0" "" "" "" "08411997-J146" "00104095" "" "" "" "1" "" "00006" "{PMID:Tahara 1993:8411997}" "sib of 08411997-J146" "" "" "Japan" "" "0" "" "" "" "08411997-J171" "00104096" "" "" "" "1" "" "00006" "{PMID:Ohura 1993:8225321}, {PMID:Ohura 1993:8295402}" "" "" "" "Japan" "" "0" "" "" "" "08225321-338" "00104097" "" "" "" "1" "" "00006" "{PMID:Ohura 1993:8295402}" "" "" "" "Japan" "" "0" "" "" "" "08295402-83" "00104098" "" "" "" "1" "" "00006" "{PMID:Ohura 1993:8295402}" "" "" "" "Japan" "" "0" "" "" "" "08295402-212" "00104099" "" "" "" "1" "" "00006" "{PMID:Ohura 1993:8295402}" "" "" "" "Japan" "" "0" "" "" "" "08295402-276" "00104100" "" "" "" "1" "" "00006" "{PMID:Ohura 1993:8295402}" "" "" "" "Japan" "" "0" "" "" "" "08295402-187" "00104101" "" "" "" "1" "" "00006" "{PMID:Tahara 1993:8411997}" "" "" "" "" "" "0" "" "" "white;Hispanic" "08411997-2267" "00104102" "" "" "" "1" "" "00006" "{PMID:Tahara 1993:8411997}" "" "" "" "" "" "0" "" "" "white" "08411997-3007" "00104103" "" "" "" "1" "" "00006" "{PMID:Ohura 1995:7789958}" "" "" "" "Japan" "" "0" "" "" "" "07789958-Pat187" "00104104" "" "" "" "1" "" "00006" "{PMID:Gravel 1994:8023851}" "" "" "" "United States" "" "0" "" "" "Amish" "08023851-535" "00104105" "" "" "" "1" "" "00006" "{PMID:Gravel 1994:8023851}" "" "" "" "United States" "" "0" "" "" "" "08023851-445" "00104106" "" "" "" "1" "" "00006" "{PMID:Gravel 1994:8023851}" "" "" "" "United States" "" "0" "" "" "" "08023851-500" "00104107" "" "" "" "1" "" "00006" "{PMID:Gravel 1994:8023851}" "" "" "" "United States" "" "0" "" "" "" "08023851-3138" "00104108" "" "" "" "1" "" "00006" "{PMID:Gravel 1994:8023851}" "" "" "" "United States" "" "0" "" "" "" "08023851-8913" "00104109" "" "" "" "1" "" "00006" "{PMID:Gravel 1994:8023851}" "" "" "" "United States" "" "0" "" "" "" "08023851-539" "00104110" "" "" "" "1" "" "00006" "{PMID:Hoenicka 1998:9452096}" "" "" "" "Spain" "" "0" "" "" "" "09452096-APJ" "00104111" "" "" "" "1" "" "00006" "{PMID:Hoenicka 1998:9452096}" "" "" "" "Spain" "" "0" "" "" "" "09452096-SSL" "00104112" "" "" "" "1" "" "00006" "{PMID:Hoenicka 1998:9452096}" "" "" "" "Spain" "" "0" "" "" "" "09452096-pats" "00104113" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Spain" "" "0" "" "" "" "09683601-ALT" "00104114" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Spain" "" "0" "" "" "" "09683601-CBV" "00104115" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Spain" "" "0" "" "" "" "09683601-MRA" "00104116" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Chile" "" "0" "" "" "" "09683601-LMC" "00104117" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Chile" "" "0" "" "" "" "09683601-DTV" "00104118" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Spain" "" "0" "" "" "" "09683601-SSL" "00104119" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Spain" "" "0" "" "" "" "09683601-APJ" "00104120" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Spain" "" "0" "" "" "" "09683601-PRG" "00104121" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Chile" "" "0" "" "" "" "09683601-NGA" "00104122" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Spain" "" "0" "" "" "" "09683601-SVL" "00104123" "" "" "" "1" "" "00006" "{PMID:Muro 2001:11749052}, {PMID:Perez 2003:12559849}" "" "" "" "Spain" "" "0" "" "" "" "09683601-CTG" "00104124" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Spain" "" "0" "" "" "" "09683601-LGA" "00104125" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Spain" "" "0" "" "" "" "09683601-JGG" "00104126" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Chile" "" "0" "" "" "" "09683601-FM" "00104127" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Spain" "" "0" "" "" "" "09683601-VMP" "00104128" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Spain" "" "0" "" "" "" "09683601-AJA" "00104129" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Spain" "" "0" "" "" "" "09683601-GA" "00104130" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Spain" "" "0" "" "" "" "09683601-EAC" "00104131" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Ecuador" "" "0" "" "" "" "09683601-PPM" "00104132" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Spain" "" "0" "" "" "" "09683601-PVD" "00104133" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Spain" "" "0" "" "" "" "09683601-DMS" "00104134" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Chile" "" "0" "" "" "" "09683601-HMM" "00104135" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Spain" "" "0" "" "" "" "09683601-PHH" "00104136" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Spain" "" "0" "" "" "" "09683601-CJF" "00104137" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Spain" "" "0" "" "" "" "09683601-MBG" "00104138" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Spain" "" "0" "" "" "" "09683601-OVE" "00104139" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Brazil" "" "0" "" "" "" "09683601-HM" "00104140" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Spain" "" "0" "" "" "" "09683601-LVA" "00104141" "" "" "" "1" "" "00006" "{PMID:Rodriguez-Pombo 1998:9683601}" "" "" "" "Chile" "" "0" "" "" "" "09683601-MV" "00104142" "" "" "" "1" "" "00006" "{PMID:Ravn 2000:10820128}" "" "" "" "Greenland" "" "0" "" "" "Inuit" "10820128-Pat6" "00104143" "" "" "" "15" "" "00006" "{PMID:Ravn 2000:10820128}" "" "" "" "Greenland" "" "0" "" "" "Inuit" "10820128-pop" "00104144" "" "" "" "1" "" "00006" "{PMID:Muro 2001:11749052}" "" "" "" "Spain" "" "0" "" "" "" "11749052-ASF" "00104145" "" "" "" "1" "" "00006" "{PMID:Muro 1999:10447268}" "" "" "" "Spain" "" "0" "" "" "" "10447268-AML" "00104146" "" "" "" "1" "" "00006" "{PMID:Muro 1999:10447268}" "" "" "" "Spain" "" "0" "" "" "" "10447268-JRC" "00104147" "" "" "" "4" "" "00006" "{PMID:Muro 1999:10447268}" "family, 4 affecteds" "" "" "Austria" "" "0" "" "" "" "10447268-EE" "00104148" "" "" "" "1" "" "00006" "{PMID:Yorifuji 2002:12189489}" "" "" "" "Japan" "" "0" "" "" "" "12189489-Pat1" "00104149" "" "" "" "1" "" "00006" "{PMID:Yorifuji 2002:12189489}" "" "" "" "Japan" "" "0" "" "" "" "12189489-Pat2" "00104150" "" "" "" "1" "" "00006" "{PMID:Yorifuji 2002:12189489}" "" "" "" "Japan" "" "0" "" "" "" "12189489-Pat3" "00104151" "" "" "" "1" "" "00006" "{PMID:Yorifuji 2002:12189489}" "" "" "" "Japan" "" "0" "" "" "" "12189489-Pat4" "00104152" "" "" "" "1" "" "00006" "{PMID:Yorifuji 2002:12189489}" "" "" "" "Japan" "" "0" "" "" "" "12189489-Pat5" "00104153" "" "" "" "1" "" "00006" "{PMID:Yorifuji 2002:12189489}" "" "" "" "Japan" "" "0" "" "" "" "12189489-Pat6" "00104154" "" "" "" "1" "" "00006" "{PMID:Yorifuji 2002:12189489}" "" "" "" "Japan" "" "0" "" "" "" "12189489-Pat7" "00104155" "" "" "" "1" "" "00006" "{PMID:Yorifuji 2002:12189489}" "" "" "" "Japan" "" "0" "" "" "" "12189489-Pat8" "00104156" "" "" "" "1" "" "00006" "{PMID:Yorifuji 2002:12189489}" "" "" "" "Japan" "" "0" "" "" "" "12189489-Pat9" "00104157" "" "" "" "1" "" "00006" "{PMID:Yorifuji 2002:12189489}" "" "" "" "Japan" "" "0" "" "" "" "12189489-Pat10" "00104158" "" "" "" "1" "" "00006" "{PMID:Kim 2002:12409268}" "" "" "" "Korea" "" "0" "" "" "" "12409268-Pat1" "00104159" "" "" "" "1" "" "00006" "{PMID:Kim 2002:12409268}" "" "" "" "Korea" "" "0" "" "" "" "12409268-Pat2" "00104160" "" "" "" "1" "" "00006" "{PMID:Kim 2002:12409268}" "" "" "" "Korea" "" "0" "" "" "" "12409268-Pat3" "00104161" "" "" "" "1" "" "00006" "{PMID:Kim 2002:12409268}" "" "" "" "Korea" "" "0" "" "" "" "12409268-Pat4" "00104162" "" "" "" "1" "" "00006" "{PMID:Kim 2002:12409268}" "" "" "" "Korea" "" "0" "" "" "" "12409268-Pat5" "00104163" "" "" "" "1" "" "00006" "{PMID:Kim 2002:12409268}" "" "" "" "Korea" "" "0" "" "" "" "12409268-Pat6" "00104164" "" "" "" "1" "" "00006" "{PMID:Kim 2002:12409268}" "" "" "" "Korea" "" "0" "" "" "" "12409268-Pat7" "00104165" "" "" "" "1" "" "00006" "{PMID:Kim 2002:12409268}" "" "" "" "Korea" "" "0" "" "" "" "12409268-Pat8" "00104166" "" "" "" "1" "" "00006" "{PMID:Perez 2003:12559849}" "" "" "" "Spain" "" "0" "" "" "" "12559849-15491" "00104167" "" "" "" "1" "" "00006" "{PMID:Perez 2003:12559849}" "" "" "" "Spain" "" "0" "" "" "" "12559849-15108" "00104168" "" "" "" "1" "" "00006" "{PMID:Perez 2003:12559849}" "" "" "" "Spain" "" "0" "" "" "" "12559849-17094" "00104169" "" "" "" "1" "" "00006" "{PMID:Perez 2003:12559849}" "" "" "" "Spain" "" "0" "" "" "Basque" "12559849-16787" "00104170" "" "" "" "1" "" "00006" "{PMID:Perez 2003:12559849}" "" "" "" "Italy" "" "0" "" "" "" "12559849-16485" "00104171" "" "" "" "1" "" "00006" "{PMID:Perez 2003:12559849}" "" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "12559849-15814" "00104172" "" "" "" "1" "" "00006" "{PMID:Perez 2003:12559849}" "" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "12559849-15815" "00104173" "" "" "" "1" "" "00006" "{PMID:Perez 2003:12559849}" "" "" "" "Austria" "" "0" "" "" "" "12559849-14582" "00104174" "" "" "" "1" "" "00006" "{PMID:Perez 2003:12559849}" "" "" "" "United States" "" "0" "" "" "" "12559849-14762" "00104175" "" "" "" "1" "" "00006" "{PMID:Perez 2003:12559849}" "" "" "" "United States" "" "0" "" "" "" "12559849-14763" "00104176" "" "" "" "1" "" "00006" "{PMID:Perez 2003:12559849}" "" "" "" "United States" "" "0" "" "" "" "12559849-14935" "00104177" "" "" "" "1" "" "00006" "{PMID:Perez 2003:12559849}" "" "" "" "United States" "" "0" "" "" "Arab" "12559849-15513" "00104178" "" "" "" "1" "" "00006" "{PMID:Perez 2003:12559849}" "" "" "" "United States" "" "0" "" "" "" "12559849-16187" "00104179" "" "" "" "1" "" "00006" "{PMID:Yang 2004:15059621}" "" "" "" "" "" "0" "" "" "Brazil, Greece, Japan, Spain" "15059621-?" "00104180" "" "" "" "1" "" "00006" "{PMID:Yang 2004:15059621}" "" "" "" "Japan" "" "0" "" "" "" "15059621-?" "00104181" "" "" "" "1" "" "00006" "{PMID:Yang 2004:15059621}" "" "" "" "Japan" "" "0" "" "" "" "15059621-?" "00104182" "" "" "" "1" "" "00006" "{PMID:Yang 2004:15059621}" "" "" "" "Japan" "" "0" "" "" "" "15059621-?" "00104183" "" "" "" "1" "" "00006" "{PMID:Yang 2004:15059621}" "" "" "" "" "" "0" "" "" "Ecuador, Japan" "15059621-?" "00104184" "" "" "" "1" "" "00006" "{PMID:Yang 2004:15059621}" "" "" "" "Japan" "" "0" "" "" "" "15059621-?" "00104185" "" "" "" "1" "" "00006" "{PMID:Desviat 2006:17051315}" "" "" "" "United States" "" "0" "" "" "" "17051315-?" "00104186" "" "" "" "1" "" "00006" "{PMID:Desviat 2006:17051315}" "" "" "" "" "" "0" "" "" "Kurd" "17051315-?" "00104187" "" "" "" "1" "" "00006" "{PMID:Desviat 2006:17051315}" "" "" "" "United States" "" "0" "" "" "" "17051315-?" "00104188" "" "" "" "1" "" "00006" "{PMID:Desviat 2006:17051315}" "" "" "" "Italy" "" "0" "" "" "" "17051315-?" "00104189" "" "" "" "1" "" "00006" "{PMID:Desviat 2006:17051315}" "" "" "" "Germany" "" "0" "" "" "" "17051315-?" "00104190" "" "" "" "1" "" "00006" "{PMID:Desviat 2006:17051315}" "" "" "" "Pakistan" "" "0" "" "" "" "17051315-PAK" "00104191" "" "" "" "1" "" "00006" "{PMID:Desviat 2006:17051315}" "" "" "" "Iran" "" "0" "" "" "" "17051315-IRA" "00104192" "" "" "" "1" "" "00006" "{PMID:Brosch 2008:17415538}" "" "" "" "" "" "0" "" "" "" "?" "00104193" "" "" "" "1" "" "00006" "{PMID:Rincon 2007:17966092}" "" "" "" "" "" "0" "" "" "" "?" "00104194" "" "" "" "1" "" "00006" "{PMID:Bustamante-Aragones 2008:18599334}" "" "" "" "" "" "0" "" "" "" "?" "00104195" "" "" "" "1" "" "00006" "{PMID:Hu 2008:19099776}" "" "" "" "China" "" "0" "" "" "" "?" "00104196" "" "" "" "1" "" "00006" "{PMID:Hu 2008:19099776}" "" "" "" "" "" "0" "" "" "" "?" "00104197" "" "" "" "1" "" "00006" "{PMID:Hu 2008:19099776}" "" "" "" "China" "" "0" "" "" "" "?" "00104198" "" "" "" "1" "" "00006" "{PMID:Hu 2008:19099776}" "" "" "" "" "" "0" "" "" "" "?" "00104199" "" "" "" "1" "" "00006" "{PMID:Hu 2008:19099776}" "" "" "" "China" "" "0" "" "" "" "?" "00104200" "" "" "" "1" "" "00006" "{PMID:Hu 2008:19099776}" "" "" "" "China" "" "0" "" "" "" "?" "00104201" "" "" "" "1" "" "00006" "{PMID:Lee 2009:19238581}" "" "" "" "United States" "" "0" "" "" "Asian" "?" "00104202" "" "" "" "1" "" "00006" "{PMID:Lee 2009:19238581}" "" "" "" "United States" "" "0" "" "" "Asian" "?" "00104203" "" "" "" "1" "" "00006" "{PMID:de Keyzer 2009:19342984}" "" "" "" "" "" "0" "" "" "" "?" "00104204" "" "" "" "1" "" "00006" "{PMID:de Keyzer 2009:19342984}" "" "" "" "" "" "0" "" "" "" "?" "00104205" "" "" "" "1" "" "00006" "{PMID:Perez 2010:20549364}" "" "" "" "" "" "0" "" "" "Brazil, Greece, Japan, Spain" "?" "00104206" "" "" "" "1" "" "00006" "{PMID:Perez 2010:20549364}" "" "" "" "Chile" "" "0" "" "" "" "?" "00104207" "" "" "" "1" "" "00006" "{PMID:Perez 2010:20549364}" "" "" "" "" "" "0" "" "" "Ecuador, Japan" "?" "00104208" "" "" "" "1" "" "00006" "{PMID:Perez 2010:20549364}" "" "" "" "Spain" "" "0" "" "" "" "?" "00104209" "" "" "" "1" "" "00006" "{PMID:Perez 2010:20549364}" "" "" "" "" "" "0" "" "" "Chile, Spain" "?" "00104210" "" "" "" "1" "" "00006" "{PMID:Perez 2010:20549364}" "" "" "" "Argentina" "" "0" "" "" "" "?" "00104211" "" "" "" "1" "" "00006" "{PMID:Perez 2010:20549364}" "" "" "" "" "" "0" "" "" "Brazil, Turkey" "?" "00104212" "" "" "" "1" "" "00006" "{PMID:Perez 2010:20549364}" "" "" "" "" "" "0" "" "" "" "?" "00104213" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "Germany" "" "0" "" "" "" "?" "00104214" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "Austria" "" "0" "" "" "" "?" "00104215" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "" "" "0" "" "" "Brazil, Greece, Japan, Spain" "?" "00104216" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "Turkey" "" "0" "" "" "" "?" "00104217" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "Syria" "" "0" "" "" "" "?" "00104218" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "Germany" "" "0" "" "" "" "?" "00104219" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "Lebanon" "" "0" "" "" "" "?" "00104220" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "Japan" "" "0" "" "" "" "?" "00104221" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "" "" "0" "" "" "" "?" "00104222" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "United States" "" "0" "" "" "Amish" "?" "00104223" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "Spain" "" "0" "" "" "" "?" "00104224" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "" "" "0" "" "" "Austria, Germany" "?" "00104225" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "" "" "0" "" "" "Japan, USA" "?" "00104226" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "" "" "0" "" "" "Afghanistan, Turkey, Lebanon, Germany, Kosovo, Albania" "?" "00104227" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "Germany" "" "0" "" "" "" "?" "00104228" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "Austria" "" "0" "" "" "" "?" "00104229" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "" "" "0" "" "" "Albania, Turkey" "?" "00104230" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "" "" "0" "" "" "Italy, USA, Germany" "?" "00104231" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "Bosnia and Herzegovina" "" "0" "" "" "" "?" "00104232" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "" "" "0" "" "" "Germany, Turkey" "?" "00104233" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "Germany" "" "0" "" "" "" "?" "00104234" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "" "" "0" "" "" "Turkey, Kosovo, Germany, Switzerland, Syria, Austria" "?" "00104235" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "United States" "" "0" "" "" "" "?" "00104236" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "United States" "" "0" "" "" "" "?" "00104237" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "Germany" "" "0" "" "" "" "?" "00104238" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "Russian Federation" "" "0" "" "" "" "?" "00104239" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "Turkey" "" "0" "" "" "" "?" "00104240" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "Germany" "" "0" "" "" "" "?" "00104241" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "Germany" "" "0" "" "" "" "?" "00104242" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "Germany" "" "0" "" "" "" "?" "00104243" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "" "" "0" "" "" "Afghanistan, Germany, Kosovo, Switzerland, Russia, Bosnia and Herzegovina, Turkey, Austria" "?" "00104244" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "" "" "0" "" "" "Afghanistan, Turkey, Germany, Kosovo, Bosnia and Herzegovina, Greece, Albania, Austria" "?" "00104245" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "" "" "0" "" "" "Brazil, Turkey" "?" "00104246" "" "" "" "1" "" "00006" "{PMID:Kraus 2012:22033733}" "" "" "" "" "" "0" "" "" "" "?" "00104247" "" "" "" "1" "" "00006" "{PMID:Perez-Cerda 1994:7707688}" "" "" "" "" "" "0" "" "" "" "?" "00104248" "" "" "" "1" "" "00006" "{PMID:Ohura 1993:8225321}" "" "" "" "Japan" "" "0" "" "" "" "?" "00104249" "" "" "" "1" "" "00006" "{PMID:Hoenicka 1998:9425096}" "" "" "" "" "" "0" "" "" "Chile, Spain, United States" "?" "00104250" "" "" "" "1" "" "00006" "Abs Rodriguez-Pombo 2000, JIMD" "" "" "" "" "" "0" "" "" "" "?" "00104251" "" "" "" "1" "" "00006" "Abs Rodriguez-Pombo 2000, JIMD" "" "" "" "" "" "0" "" "" "" "?" "00104252" "" "" "" "1" "" "00006" "Abs Rodriguez-Pombo 2000, JIMD" "" "" "" "" "" "0" "" "" "" "?" "00104253" "" "" "" "1" "" "00006" "Heptinstall 1998 JIMD 21 S2 p79" "" "" "" "" "" "0" "" "" "Chile, Spain" "?" "00104254" "" "" "" "1" "" "00006" "Heptinstall 1998 JIMD 21 S2 p79" "" "" "" "" "" "0" "" "" "" "?" "00104255" "" "" "" "1" "" "00006" "LSDB Heptinstall 1998" "" "" "" "" "" "0" "" "" "" "?" "00104256" "" "" "" "1" "" "00006" "LSDB Heptinstall 1999" "" "" "" "" "" "0" "" "" "" "?" "00104257" "" "" "" "1" "" "00006" "Oglesbee 2006 JIMD 29 S1 p20" "" "" "" "United States" "" "0" "" "" "Amish" "?" "00104258" "" "" "" "1" "" "00006" "Ozgul 2010 JIMD 33 S1 p45" "" "" "" "Turkey" "" "0" "" "" "" "?" "00104259" "" "" "" "1" "" "00006" "Ozgul 2010 JIMD 33 S1 p45" "" "" "" "Turkey" "" "0" "" "" "" "?" "00104260" "" "" "" "1" "" "00006" "Perez 2005 JIMD 28 S1 p80" "" "" "" "Turkey" "" "0" "" "" "" "?" "00104261" "" "" "" "1" "" "00006" "Perez 2005 JIMD 28 S1 p80" "" "" "" "" "" "0" "" "" "" "?" "00104262" "" "" "" "1" "" "00006" "Perez 2005 JIMD 28 S1 p80" "" "" "" "" "" "0" "" "" "Kurd" "?" "00104263" "" "" "" "1" "" "00006" "Rodriguez-Pombo et al" "" "" "" "Spain" "" "0" "" "" "" "?" "00104264" "" "" "" "1" "" "00006" "Rodriguez-Pombo 2000 JIMD 23 p92" "" "" "" "United States" "" "0" "" "" "" "?" "00104265" "" "" "" "1" "" "00006" "Rodriguez-Pombo 2000 JIMD 23 p92" "" "" "" "" "" "0" "" "" "Japan, USA" "?" "00104266" "" "" "" "1" "" "00006" "Rodriguez-Pombo 2000 JIMD 23 p92" "" "" "" "United States" "" "0" "" "" "" "?" "00104267" "" "" "" "1" "" "00006" "Rodriguez-Pombo 2000 JIMD 23 p92" "" "" "" "" "" "0" "" "" "" "?" "00226127" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00293224" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295492" "" "" "" "1" "" "03619" "" "" "" "" "China" "" "0" "" "" "" "" "00431566" "" "" "" "1" "" "01602" "" "" "M" "" "Switzerland" "33y" "" "" "" "Europe" "SUDS039" "00431837" "" "" "" "1" "" "01602" "" "" "M" "" "Switzerland" "00y08m" "" "" "" "Europe" "SIDS016" "00453665" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat81" "00464613" "" "" "" "2" "" "04221" "Unpublished" "" "M" "?" "Mexico" "03y03m04d" "" "" "" "Mexican" "AP-07" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 199 "{{individualid}}" "{{diseaseid}}" "00019901" "00139" "00104050" "00198" "00104078" "02571" "00104079" "02571" "00104080" "02571" "00104081" "02571" "00104082" "02571" "00104083" "02571" "00104084" "02571" "00104085" "02571" "00104086" "02571" "00104087" "02571" "00104088" "02571" "00104089" "02571" "00104090" "02571" "00104091" "02571" "00104092" "02571" "00104093" "02571" "00104094" "02571" "00104095" "02571" "00104096" "02571" "00104097" "02571" "00104098" "02571" "00104099" "02571" "00104100" "02571" "00104101" "02571" "00104102" "02571" "00104103" "02571" "00104104" "02571" "00104105" "02571" "00104106" "02571" "00104107" "02571" "00104108" "02571" "00104109" "02571" "00104110" "02571" "00104111" "02571" "00104112" "02571" "00104113" "02571" "00104114" "02571" "00104115" "02571" "00104116" "02571" "00104117" "02571" "00104118" "02571" "00104119" "02571" "00104120" "02571" "00104121" "02571" "00104122" "02571" "00104123" "02571" "00104124" "02571" "00104125" "02571" "00104126" "02571" "00104127" "02571" "00104128" "02571" "00104129" "02571" "00104130" "02571" "00104131" "02571" "00104132" "02571" "00104133" "02571" "00104134" "02571" "00104135" "02571" "00104136" "02571" "00104137" "02571" "00104138" "02571" "00104139" "02571" "00104140" "02571" "00104141" "02571" "00104142" "02571" "00104143" "00000" "00104144" "02571" "00104145" "02571" "00104146" "02571" "00104147" "02571" "00104148" "02571" "00104149" "02571" "00104150" "02571" "00104151" "02571" "00104152" "02571" "00104153" "02571" "00104154" "02571" "00104155" "02571" "00104156" "02571" "00104157" "02571" "00104158" "02571" "00104159" "02571" "00104160" "02571" "00104161" "02571" "00104162" "02571" "00104163" "02571" "00104164" "02571" "00104165" "02571" "00104166" "02571" "00104167" "02571" "00104168" "02571" "00104169" "02571" "00104170" "02571" "00104171" "02571" "00104172" "02571" "00104173" "02571" "00104174" "02571" "00104175" "02571" "00104176" "02571" "00104177" "02571" "00104178" "02571" "00104179" "02571" "00104180" "02571" "00104181" "02571" "00104182" "02571" "00104183" "02571" "00104184" "02571" "00104185" "02571" "00104186" "02571" "00104187" "02571" "00104188" "02571" "00104189" "02571" "00104190" "02571" "00104191" "02571" "00104192" "02571" "00104193" "02571" "00104194" "02571" "00104195" "02571" "00104196" "02571" "00104197" "02571" "00104198" "02571" "00104199" "02571" "00104200" "02571" "00104201" "02571" "00104202" "02571" "00104203" "02571" "00104204" "02571" "00104205" "02571" "00104206" "02571" "00104207" "02571" "00104208" "02571" "00104209" "02571" "00104210" "02571" "00104211" "02571" "00104212" "02571" "00104213" "02571" "00104214" "02571" "00104215" "02571" "00104216" "02571" "00104217" "02571" "00104218" "02571" "00104219" "02571" "00104220" "02571" "00104221" "02571" "00104222" "02571" "00104223" "02571" "00104224" "02571" "00104225" "02571" "00104226" "02571" "00104227" "02571" "00104228" "02571" "00104229" "02571" "00104230" "02571" "00104231" "02571" "00104232" "02571" "00104233" "02571" "00104234" "02571" "00104235" "02571" "00104236" "02571" "00104237" "02571" "00104238" "02571" "00104239" "02571" "00104240" "02571" "00104241" "02571" "00104242" "02571" "00104243" "02571" "00104244" "02571" "00104245" "02571" "00104246" "02571" "00104247" "02571" "00104248" "02571" "00104249" "02571" "00104250" "02571" "00104251" "02571" "00104252" "02571" "00104253" "02571" "00104254" "02571" "00104255" "02571" "00104256" "02571" "00104257" "02571" "00104258" "02571" "00104259" "02571" "00104260" "02571" "00104261" "02571" "00104262" "02571" "00104263" "02571" "00104264" "02571" "00104265" "02571" "00104266" "02571" "00104267" "02571" "00226127" "00198" "00293224" "00198" "00295492" "02571" "00431566" "05166" "00431837" "02087" "00453665" "02554" "00464613" "02571" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 02087, 02554, 02571, 05166 ## Count = 197 "{{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}}" "0000017614" "00139" "00019901" "00705" "Unknown" "" "Moderate ID, features of autism, anxiety, mood instability and aggressive outbursts. No evident dysmorphic features." "" "" "" "" "" "" "" "" "" "" "" "0000081992" "00198" "00104050" "01965" "Familial, autosomal recessive" "" "propionic acidemia with adult-onset dilated cardiomyopathy" "42y" "" "" "" "" "" "" "" "" "" "" "0000082018" "02571" "00104078" "01968" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082019" "02571" "00104079" "01968" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082020" "02571" "00104080" "01968" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082021" "02571" "00104081" "00006" "Familial, autosomal recessive" "" "cell line no PCC activity" "" "" "" "" "" "" "" "" "" "" "" "0000082022" "02571" "00104082" "00006" "Familial, autosomal recessive" "" "cell line no PCC activity" "" "" "" "" "" "" "" "" "" "" "" "0000082023" "02571" "00104083" "00006" "Familial, autosomal recessive" "" "cell line no PCC activity" "" "" "" "" "" "" "" "" "" "" "" "0000082024" "02571" "00104084" "00006" "Familial, autosomal recessive" "" "cell line no PCC activity" "" "" "" "" "" "" "" "" "" "" "" "0000082025" "02571" "00104085" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082026" "02571" "00104086" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082027" "02571" "00104087" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082028" "02571" "00104088" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082029" "02571" "00104089" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082030" "02571" "00104090" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082031" "02571" "00104091" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082032" "02571" "00104092" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082033" "02571" "00104093" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082034" "02571" "00104094" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082035" "02571" "00104095" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082036" "02571" "00104096" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082037" "02571" "00104097" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082038" "02571" "00104098" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082039" "02571" "00104099" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082040" "02571" "00104100" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082041" "02571" "00104101" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082042" "02571" "00104102" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082043" "02571" "00104103" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082044" "02571" "00104104" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082045" "02571" "00104105" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082046" "02571" "00104106" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082047" "02571" "00104107" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082048" "02571" "00104108" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082049" "02571" "00104109" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082050" "02571" "00104110" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082051" "02571" "00104111" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082052" "02571" "00104112" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082053" "02571" "00104113" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082054" "02571" "00104114" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082055" "02571" "00104115" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082056" "02571" "00104116" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082057" "02571" "00104117" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082058" "02571" "00104118" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082059" "02571" "00104119" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082060" "02571" "00104120" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082061" "02571" "00104121" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082062" "02571" "00104122" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082063" "02571" "00104123" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082064" "02571" "00104124" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082065" "02571" "00104125" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082066" "02571" "00104126" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082067" "02571" "00104127" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082068" "02571" "00104128" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082069" "02571" "00104129" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082070" "02571" "00104130" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082071" "02571" "00104131" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082072" "02571" "00104132" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082073" "02571" "00104133" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082074" "02571" "00104134" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082075" "02571" "00104135" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082076" "02571" "00104136" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082077" "02571" "00104137" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082078" "02571" "00104138" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082079" "02571" "00104139" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082080" "02571" "00104140" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082081" "02571" "00104141" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082082" "02571" "00104142" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082083" "02571" "00104144" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082084" "02571" "00104145" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082085" "02571" "00104146" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082086" "02571" "00104147" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082087" "02571" "00104148" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082088" "02571" "00104149" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082089" "02571" "00104150" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082090" "02571" "00104151" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082091" "02571" "00104152" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082092" "02571" "00104153" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082093" "02571" "00104154" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082094" "02571" "00104155" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082095" "02571" "00104156" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082096" "02571" "00104157" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082097" "02571" "00104158" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082098" "02571" "00104159" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082099" "02571" "00104160" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082100" "02571" "00104161" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082101" "02571" "00104162" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082102" "02571" "00104163" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082103" "02571" "00104164" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082104" "02571" "00104165" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082105" "02571" "00104166" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082106" "02571" "00104167" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082107" "02571" "00104168" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082108" "02571" "00104169" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082109" "02571" "00104170" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082110" "02571" "00104171" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082111" "02571" "00104172" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082112" "02571" "00104173" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082113" "02571" "00104174" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082114" "02571" "00104175" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082115" "02571" "00104176" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082116" "02571" "00104177" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082117" "02571" "00104178" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082118" "02571" "00104179" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082119" "02571" "00104180" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082120" "02571" "00104181" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082121" "02571" "00104182" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082122" "02571" "00104183" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082123" "02571" "00104184" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082124" "02571" "00104185" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082125" "02571" "00104186" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082126" "02571" "00104187" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082127" "02571" "00104188" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082128" "02571" "00104189" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082129" "02571" "00104190" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082130" "02571" "00104191" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082131" "02571" "00104192" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082132" "02571" "00104193" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082133" "02571" "00104194" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082134" "02571" "00104195" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082135" "02571" "00104196" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082136" "02571" "00104197" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082137" "02571" "00104198" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082138" "02571" "00104199" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082139" "02571" "00104200" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082140" "02571" "00104201" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082141" "02571" "00104202" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082142" "02571" "00104203" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082143" "02571" "00104204" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082144" "02571" "00104205" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082145" "02571" "00104206" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082146" "02571" "00104207" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082147" "02571" "00104208" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082148" "02571" "00104209" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082149" "02571" "00104210" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082150" "02571" "00104211" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082151" "02571" "00104212" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082152" "02571" "00104213" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082153" "02571" "00104214" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082154" "02571" "00104215" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082155" "02571" "00104216" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082156" "02571" "00104217" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082157" "02571" "00104218" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082158" "02571" "00104219" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082159" "02571" "00104220" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082160" "02571" "00104221" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082161" "02571" "00104222" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082162" "02571" "00104223" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082163" "02571" "00104224" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082164" "02571" "00104225" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082165" "02571" "00104226" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082166" "02571" "00104227" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082167" "02571" "00104228" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082168" "02571" "00104229" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082169" "02571" "00104230" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082170" "02571" "00104231" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082171" "02571" "00104232" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082172" "02571" "00104233" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082173" "02571" "00104234" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082174" "02571" "00104235" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082175" "02571" "00104236" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082176" "02571" "00104237" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082177" "02571" "00104238" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082178" "02571" "00104239" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082179" "02571" "00104240" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082180" "02571" "00104241" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082181" "02571" "00104242" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082182" "02571" "00104243" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082183" "02571" "00104244" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082184" "02571" "00104245" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082185" "02571" "00104246" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082186" "02571" "00104247" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082187" "02571" "00104248" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082188" "02571" "00104249" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082189" "02571" "00104250" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082190" "02571" "00104251" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082191" "02571" "00104252" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082192" "02571" "00104253" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082193" "02571" "00104254" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082194" "02571" "00104255" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082195" "02571" "00104256" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082196" "02571" "00104257" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082197" "02571" "00104258" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082198" "02571" "00104259" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082199" "02571" "00104260" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082200" "02571" "00104261" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082201" "02571" "00104262" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082202" "02571" "00104263" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082203" "02571" "00104264" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082204" "02571" "00104265" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082205" "02571" "00104266" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082206" "02571" "00104267" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000171241" "00198" "00226127" "01807" "Unknown" "" "Neurodegeneration (HP:0002180); Abnormality of the immune system (HP:0002715); Propionicacidemia (HP:0003571); Short stature (HP:0004322); Hepatomegaly (HP:0002240); Feeding difficulties (HP:0011968)" "" "" "" "" "" "" "" "" "" "" "" "0000223062" "02571" "00295492" "03619" "Familial, autosomal recessive" "" "she had several episodes of infections, diarrhea, metabolic acidosi; and the result of MS/MS showed increased of acylcarnitine profile revealed and increased C3-acylcarnitin, C3/C2 and C3/C0 acylcarnitine ratio. She is now five years old with moderate mental retardation. In the past few years, she has been admitted to the hospital several times due to episodes of infections,diarrhea, metabolic acidosis and generalized tonic-clonic seizures. She also had poor weight gain (6th percentile). Her recent heart assessment is normal." "" "" "" "" "" "" "" "" "" "" "" "0000322139" "05166" "00431566" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" "0000322406" "02087" "00431837" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000342322" "02554" "00453665" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "propionic acidemia" "inborn error of metabolism" "" "0000350601" "02571" "00464613" "04221" "Familial, autosomal recessive" "00y01m" "HP:0001257 Spasticity, HP:0030680 Congenital malformation,  HP:0002013 Vomiting,  HP:0002020 Gastroesophageal reflux,  HP:0000952  Jaundice ,  HP:0000951Abnormality of the skin ,  HP:0001903 Anemia , Leukopenia HP:0001882,  HP:0001875 Neutropenia,  HP:0001888 Lymphopenia,   HP:0001873 Thrombocytopenia,  HP:0001263 Global developmental delay ,  HP:0001336 Myoclonus ,  HP:0001987 Hyperammonemia, Hypoglycemia HP:0001943," "" "00y01m" "" "" "" "" "" "" "Propionic acidemia" "Propionic acidemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 199 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000024226" "00019901" "1" "00006" "00006" "2014-11-08 12:57:14" "00006" "2014-11-08 13:14:02" "arraySNP;SEQ;SEQ-NG" "DNA" "" "" "0000104521" "00104050" "1" "01965" "01965" "2017-05-07 12:28:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000104548" "00104078" "0" "01968" "00006" "2011-11-17 16:21:46" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104549" "00104079" "0" "01968" "00006" "2011-11-17 16:25:28" "00006" "2017-05-12 12:49:26" "SEQ" "DNA;RNA" "" "" "0000104550" "00104080" "0" "01968" "00006" "2011-11-17 16:27:16" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104551" "00104081" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104552" "00104082" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104553" "00104083" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104554" "00104084" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104555" "00104085" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ;Southern" "DNA;RNA" "" "" "0000104556" "00104086" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ;Southern" "DNA;RNA" "" "" "0000104557" "00104087" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ;Southern" "DNA;RNA" "" "" "0000104558" "00104088" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ;Southern" "DNA;RNA" "" "" "0000104559" "00104089" "0" "00006" "00006" 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"2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104608" "00104138" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104609" "00104139" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104610" "00104140" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104611" "00104141" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104612" "00104142" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104613" "00104143" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104614" "00104144" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104615" "00104145" "0" "00006" "00006" "2012-02-24 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12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104624" "00104154" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104625" "00104155" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104626" "00104156" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104627" "00104157" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104628" "00104158" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104629" "00104159" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104630" "00104160" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104631" "00104161" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104632" "00104162" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104633" "00104163" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104634" "00104164" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104635" "00104165" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104636" "00104166" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104637" "00104167" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104638" "00104168" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104639" "00104169" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104640" "00104170" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104641" "00104171" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104642" "00104172" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104643" "00104173" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104644" "00104174" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104645" "00104175" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104646" "00104176" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104647" "00104177" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104648" "00104178" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104649" "00104179" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104650" "00104180" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104651" "00104181" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104652" "00104182" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104653" "00104183" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104654" "00104184" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104655" "00104185" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104656" "00104186" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104657" "00104187" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104658" "00104188" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104659" "00104189" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104660" "00104190" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104661" "00104191" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104662" "00104192" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104663" "00104193" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104664" "00104194" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104665" "00104195" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104666" "00104196" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104667" "00104197" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104668" "00104198" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104669" "00104199" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104670" "00104200" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104671" "00104201" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104672" "00104202" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104673" "00104203" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104674" "00104204" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104675" "00104205" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104676" "00104206" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104677" "00104207" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104678" "00104208" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104679" "00104209" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104680" "00104210" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104681" "00104211" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104682" "00104212" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104683" "00104213" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104684" "00104214" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104685" "00104215" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104686" "00104216" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104687" "00104217" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104688" "00104218" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104689" "00104219" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104690" "00104220" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104691" "00104221" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104692" "00104222" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104693" "00104223" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104694" "00104224" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104695" "00104225" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104696" "00104226" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104697" "00104227" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104698" "00104228" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104699" "00104229" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104700" "00104230" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104701" "00104231" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104702" "00104232" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104703" "00104233" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104704" "00104234" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104705" "00104235" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104706" "00104236" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104707" "00104237" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104708" "00104238" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104709" "00104239" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104710" "00104240" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104711" "00104241" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104712" "00104242" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104713" "00104243" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104714" "00104244" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104715" "00104245" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104716" "00104246" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104717" "00104247" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104718" "00104248" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104719" "00104249" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104720" "00104250" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104721" "00104251" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104722" "00104252" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104723" "00104253" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104724" "00104254" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104725" "00104255" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104726" "00104256" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104727" "00104257" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104728" "00104258" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104729" "00104259" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104730" "00104260" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104731" "00104261" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104732" "00104262" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104733" "00104263" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104734" "00104264" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104735" "00104265" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000104736" "00104266" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000104737" "00104267" "0" "00006" "00006" "2012-02-24 17:43:02" "00006" "2017-05-12 12:49:26" "SEQ" "DNA" "" "" "0000227199" "00226127" "1" "01807" "01807" "2019-02-27 11:46:13" "" "" "SEQ" "DNA" "" "" "0000294392" "00293224" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296659" "00295492" "1" "03619" "03619" "2020-03-12 04:03:39" "" "" "SEQ" "DNA" "Perpheral Blood" "" "0000432999" "00431566" "1" "01602" "01602" "2023-02-15 09:14:04" "" "" "SEQ-NG" "DNA" "" "" "0000433303" "00431837" "1" "01602" "01602" "2023-02-17 11:10:16" "" "" "SEQ-NG" "DNA" "" "" "0000455277" "00453665" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000466256" "00464613" "1" "04221" "04221" "2025-04-01 22:40:44" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 198 "{{screeningid}}" "{{geneid}}" "0000024226" "PCCB" "0000024226" "STAG1" "0000104521" "PCCA" "0000104521" "PCCB" "0000104548" "PCCB" "0000104549" "PCCB" "0000104550" "PCCB" "0000104551" "PCCB" "0000104552" "PCCB" "0000104553" "PCCB" "0000104554" "PCCB" "0000104555" "PCCB" "0000104556" "PCCB" "0000104557" "PCCB" "0000104558" "PCCB" "0000104559" "PCCB" "0000104560" "PCCB" "0000104561" "PCCB" "0000104562" "PCCB" "0000104563" "PCCB" "0000104564" "PCCB" "0000104565" "PCCB" "0000104566" "PCCB" "0000104567" "PCCB" "0000104568" "PCCB" "0000104569" "PCCB" "0000104570" "PCCB" "0000104571" "PCCB" "0000104572" "PCCB" "0000104573" "PCCB" "0000104574" "PCCB" "0000104575" "PCCB" "0000104576" "PCCB" "0000104577" "PCCB" "0000104578" "PCCB" "0000104579" "PCCB" "0000104580" "PCCB" "0000104581" "PCCB" "0000104582" "PCCB" "0000104583" "PCCB" "0000104584" "PCCB" "0000104585" "PCCB" "0000104586" "PCCB" "0000104587" "PCCB" "0000104588" "PCCB" "0000104589" "PCCB" "0000104590" "PCCB" "0000104591" "PCCB" "0000104592" "PCCB" "0000104593" "PCCB" "0000104594" "PCCB" "0000104595" "PCCB" "0000104596" "PCCB" "0000104597" "PCCB" "0000104598" "PCCB" "0000104599" "PCCB" "0000104600" "PCCB" "0000104601" "PCCB" "0000104602" "PCCB" "0000104603" "PCCB" "0000104604" "PCCB" "0000104605" "PCCB" "0000104606" "PCCB" "0000104607" "PCCB" "0000104608" "PCCB" "0000104609" "PCCB" "0000104610" "PCCB" "0000104611" "PCCB" "0000104612" "PCCB" "0000104613" "PCCB" "0000104614" "PCCB" "0000104615" "PCCB" "0000104616" "PCCB" "0000104617" "PCCB" "0000104618" "PCCB" "0000104619" "PCCB" "0000104620" "PCCB" "0000104621" "PCCB" "0000104622" "PCCB" "0000104623" "PCCB" "0000104624" "PCCB" "0000104625" "PCCB" "0000104626" "PCCB" "0000104627" "PCCB" "0000104628" "PCCB" "0000104629" "PCCB" "0000104630" "PCCB" "0000104631" "PCCB" "0000104632" "PCCB" "0000104633" "PCCB" "0000104634" "PCCB" "0000104635" "PCCB" "0000104636" "PCCB" "0000104637" "PCCB" "0000104638" "PCCB" "0000104639" "PCCB" "0000104640" "PCCB" "0000104641" "PCCB" "0000104642" "PCCB" "0000104643" "PCCB" "0000104644" "PCCB" "0000104645" "PCCB" "0000104646" "PCCB" "0000104647" "PCCB" "0000104648" "PCCB" "0000104649" "PCCB" "0000104650" "PCCB" "0000104651" "PCCB" "0000104652" "PCCB" "0000104653" "PCCB" "0000104654" "PCCB" "0000104655" "PCCB" "0000104656" "PCCB" "0000104657" "PCCB" "0000104658" "PCCB" "0000104659" "PCCB" "0000104660" "PCCB" "0000104661" "PCCB" "0000104662" "PCCB" "0000104663" "PCCB" "0000104664" "PCCB" "0000104665" "PCCB" "0000104666" "PCCB" "0000104667" "PCCB" "0000104668" "PCCB" "0000104669" "PCCB" "0000104670" "PCCB" "0000104671" "PCCB" "0000104672" "PCCB" "0000104673" "PCCB" "0000104674" "PCCB" "0000104675" "PCCB" "0000104676" "PCCB" "0000104677" "PCCB" "0000104678" "PCCB" "0000104679" "PCCB" "0000104680" "PCCB" "0000104681" "PCCB" "0000104682" "PCCB" "0000104683" "PCCB" "0000104684" "PCCB" "0000104685" "PCCB" "0000104686" "PCCB" "0000104687" "PCCB" "0000104688" "PCCB" "0000104689" "PCCB" "0000104690" "PCCB" "0000104691" "PCCB" "0000104692" "PCCB" "0000104693" "PCCB" "0000104694" "PCCB" "0000104695" "PCCB" "0000104696" "PCCB" "0000104697" "PCCB" "0000104698" "PCCB" "0000104699" "PCCB" "0000104700" "PCCB" "0000104701" "PCCB" "0000104702" "PCCB" "0000104703" "PCCB" "0000104704" "PCCB" "0000104705" "PCCB" "0000104706" "PCCB" "0000104707" "PCCB" "0000104708" "PCCB" "0000104709" "PCCB" "0000104710" "PCCB" "0000104711" "PCCB" "0000104712" "PCCB" "0000104713" "PCCB" "0000104714" "PCCB" "0000104715" "PCCB" "0000104716" "PCCB" "0000104717" "PCCB" "0000104718" "PCCB" "0000104719" "PCCB" "0000104720" "PCCB" "0000104721" "PCCB" "0000104722" "PCCB" "0000104723" "PCCB" "0000104724" "PCCB" "0000104725" "PCCB" "0000104726" "PCCB" "0000104727" "PCCB" "0000104728" "PCCB" "0000104729" "PCCB" "0000104730" "PCCB" "0000104731" "PCCB" "0000104732" "PCCB" "0000104733" "PCCB" "0000104734" "PCCB" "0000104735" "PCCB" "0000104736" "PCCB" "0000104737" "PCCB" "0000296659" "PCCA" "0000296659" "PCCB" "0000466256" "PCCA" "0000466256" "PCCB" ## 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 = 377 "{{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}}" "0000046775" "0" "30" "3" "136003159" "136003159" "delins" "0" "00006" "PCCB_000101" "g.136003159delinsGATGTTTCA" "" "{PMID:Gilissen 2014:24896178}" "" "" "" "Unknown" "" "" "0" "" "" "g.136284317delinsGATGTTTCA" "" "likely benign" "" "0000169465" "0" "70" "3" "136002746" "136002746" "subst" "2.8428E-5" "01965" "PCCB_000102" "g.136002746C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136283904C>T" "" "likely pathogenic" "" "0000169466" "0" "70" "3" "136016853" "136016855" "del" "0" "01965" "PCCB_000103" "g.136016853_136016855del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136298011_136298013del" "" "likely pathogenic" "" "0000169498" "1" "70" "3" "135975424" "135975424" "subst" "1.62431E-5" "01968" "PCCB_000001" "g.135975424C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136256582C>T" "" "likely pathogenic" "" "0000169499" "2" "70" "3" "135979363" "135979363" "subst" "0" "01968" "PCCB_000002" "g.135979363C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136260521C>T" "" "likely pathogenic" "" "0000169500" "1" "70" "3" "136019929" "136019929" "subst" "1.21839E-5" "01968" "PCCB_000003" "g.136019929C>A" "" "" "" "(Tyr315*)" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.136301087C>A" "" "likely pathogenic" "" "0000169501" "1" "70" "3" "136048788" "136048788" "subst" "4.0653E-6" "01968" "PCCB_000004" "g.136048788C>T" "" "" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.136329946C>T" "" "likely pathogenic" "" "0000169502" "11" "90" "3" "136046023" "136046025" "del" "0" "00006" "PCCB_000005" "g.136046023_136046025del" "" "{PMID:Lamhonwah 1990:02249848}" "" "delATC" "" "Germline" "" "" "0" "" "" "g.136327181_136327183del" "" "pathogenic" "" "0000169503" "21" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Lamhonwah 1990:02249848}" "" "delGGGCATCATCCGGCinsTAGAGCACAGGA" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169504" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Lamhonwah 1990:02249848}" "" "delGGGCATCATCCGGCinsTAGAGCACAGGA" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169505" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Lamhonwah 1990:02249848}" "" "delGGGCATCATCCGGCinsTAGAGCACAGGA" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169506" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Lamhonwah 1990:02249848}" "" "delGGGCATCATCCGGCinsTAGAGCACAGGA" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169507" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Tahara 1990:02154743}" "MspI-" "1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169508" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Tahara 1990:02154743}" "MspI-" "1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169509" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Tahara 1990:02154743}" "MspI-" "1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169510" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Tahara 1990:02154743}" "MspI-" "1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169511" "2" "90" "3" "136046023" "136046025" "del" "0" "00006" "PCCB_000005" "g.136046023_136046025del" "" "{PMID:Tahara 1990:02154743}" "" "" "" "Germline" "" "" "0" "" "" "g.136327181_136327183del" "" "pathogenic" "" "0000169512" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Tahara 1990:02154743}" "MspI-" "1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169513" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Tahara 1990:02154743}" "MspI-" "1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169514" "2" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Tahara 1990:02154743}" "MspI-" "1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169515" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Tahara 1990:02154743}" "MspI-" "1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169516" "2" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Tahara 1990:02154743}" "MspI-" "1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169517" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Tahara 1990:02154743}" "MspI-" "1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169518" "2" "90" "3" "136046023" "136046025" "del" "0" "00006" "PCCB_000005" "g.136046023_136046025del" "" "{PMID:Tahara 1990:02154743}" "" "" "" "Germline" "" "" "0" "" "" "g.136327181_136327183del" "" "pathogenic" "" "0000169519" "11" "90" "3" "136046026" "136046026" "subst" "2.44115E-5" "00006" "PCCB_000007" "g.136046026C>T" "" "{PMID:Tahara 1993:08411997}, {OMIM232050:0001}" "MspI-" "1240C>T" "" "Germline" "" "" "0" "" "" "g.136327184C>T" "" "pathogenic" "" "0000169520" "21" "90" "3" "136046026" "136046026" "subst" "2.44115E-5" "00006" "PCCB_000007" "g.136046026C>T" "" "{PMID:Tahara 1993:08411997}, {OMIM232050:0001}" "MspI-" "1240C>T" "" "Germline" "" "" "0" "" "" "g.136327184C>T" "" "pathogenic" "" "0000169521" "1" "90" "3" "136046026" "136046026" "subst" "2.44115E-5" "00006" "PCCB_000007" "g.136046026C>T" "" "{PMID:Tahara 1993:08411997}, {OMIM232050:0001}" "MspI-" "1240C>T" "" "Germline" "" "" "0" "" "" "g.136327184C>T" "" "pathogenic" "" "0000169522" "2" "90" "3" "136046026" "136046026" "subst" "2.44115E-5" "00006" "PCCB_000007" "g.136046026C>T" "" "{PMID:Tahara 1993:08411997}, {OMIM232050:0001}" "MspI-" "1240C>T" "" "Germline" "" "" "0" "" "" "g.136327184C>T" "" "pathogenic" "" "0000169523" "1" "90" "3" "136046026" "136046026" "subst" "2.44115E-5" "00006" "PCCB_000007" "g.136046026C>T" "" "{PMID:Tahara 1993:08411997}, {OMIM232050:0001}" "MspI-" "1240C>T" "" "Germline" "" "" "0" "" "" "g.136327184C>T" "" "pathogenic" "" "0000169524" "2" "90" "3" "136046026" "136046026" "subst" "2.44115E-5" "00006" "PCCB_000007" "g.136046026C>T" "" "{PMID:Tahara 1993:08411997}, {OMIM232050:0001}" "MspI-" "1240C>T" "" "Germline" "" "" "0" "" "" "g.136327184C>T" "" "pathogenic" "" "0000169525" "11" "90" "3" "136046100" "136046107" "del" "0" "00006" "PCCB_000008" "g.136046100_136046107del" "" "{PMID:Ohura 1993:08225321}, {PMID:Ohura 1993:08295402}, {OMIM232050:0002}" "AvaII-" "1299+3_1299+10delGAGGACCT" "" "Germline" "" "" "0" "" "" "g.136327258_136327265del" "" "pathogenic" "" "0000169526" "21" "90" "3" "136046100" "136046107" "del" "0" "00006" "PCCB_000008" "g.136046100_136046107del" "" "{PMID:Ohura 1993:08225321}, {PMID:Ohura 1993:08295402}, {OMIM232050:0002}" "AvaII-" "1299+3_1299+10delGAGGACCT" "" "Germline" "" "" "0" "" "" "g.136327258_136327265del" "" "pathogenic" "" "0000169527" "1" "90" "3" "136046081" "136046081" "subst" "2.44125E-5" "00006" "PCCB_000009" "g.136046081C>T" "" "{PMID:Ohura 1993:08295402}" "" "" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.136327239C>T" "" "pathogenic" "" "0000169528" "2" "90" "3" "136046081" "136046081" "subst" "2.44125E-5" "00006" "PCCB_000009" "g.136046081C>T" "" "{PMID:Ohura 1993:08295402}" "" "" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.136327239C>T" "" "pathogenic" "" "0000169529" "1" "90" "3" "136046081" "136046081" "subst" "2.44125E-5" "00006" "PCCB_000009" "g.136046081C>T" "" "{PMID:Ohura 1993:08295402}" "" "" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.136327239C>T" "" "pathogenic" "" "0000169530" "2" "90" "3" "136046081" "136046081" "subst" "2.44125E-5" "00006" "PCCB_000009" "g.136046081C>T" "" "{PMID:Ohura 1993:08295402}" "" "" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.136327239C>T" "" "pathogenic" "" "0000169531" "1" "90" "3" "136047696" "136047696" "subst" "4.06537E-6" "00006" "PCCB_000010" "g.136047696C>T" "" "{PMID:Ohura 1993:08295402}" "" "" "" "Germline" "" "" "0" "" "" "g.136328854C>T" "" "pathogenic" "" "0000169532" "2" "70" "3" "135980857" "135980857" "subst" "0" "00006" "PCCB_000011" "g.135980857C>T" "" "{PMID:Ohura 1993:08295402}" "" "" "" "Germline" "" "" "0" "" "" "g.136262015C>T" "" "likely pathogenic" "" "0000169533" "1" "90" "3" "136046081" "136046081" "subst" "2.44125E-5" "00006" "PCCB_000009" "g.136046081C>T" "" "{PMID:Ohura 1993:08295402}" "" "" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.136327239C>T" "" "pathogenic" "" "0000169534" "2" "90" "3" "135979380" "135979383" "del" "0" "00006" "PCCB_000012" "g.135979380_135979383del" "" "{PMID:Ohura 1993:08295402}, {PMID:Ohura 1995:07789958}" "" "" "" "Germline" "" "" "0" "" "" "g.136260538_136260541del" "" "pathogenic" "" "0000169535" "1" "90" "3" "136046026" "136046026" "subst" "2.44115E-5" "00006" "PCCB_000007" "g.136046026C>T" "" "{PMID:Tahara 1993:08411997}, {OMIM232050:0001}" "MspI-" "1240C>T" "" "Germline" "" "" "0" "" "" "g.136327184C>T" "" "pathogenic" "" "0000169536" "2" "90" "3" "136046026" "136046026" "subst" "2.44115E-5" "00006" "PCCB_000007" "g.136046026C>T" "" "{PMID:Tahara 1993:08411997}, {OMIM232050:0001}" "MspI-" "1240C>T" "" "Germline" "" "" "0" "" "" "g.136327184C>T" "" "pathogenic" "" "0000169537" "1" "90" "3" "136046026" "136046026" "subst" "2.44115E-5" "00006" "PCCB_000007" "g.136046026C>T" "" "{PMID:Tahara 1993:08411997}, {OMIM232050:0001}" "MspI-" "1240C>T" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.136327184C>T" "" "pathogenic" "" "0000169538" "1" "90" "3" "136046081" "136046081" "subst" "2.44125E-5" "00006" "PCCB_000009" "g.136046081C>T" "" "{PMID:Ohura 1995:07789958}" "" "" "" "Germline" "" "" "0" "" "" "g.136327239C>T" "" "pathogenic" "" "0000169539" "2" "90" "3" "135979380" "135979383" "del" "0" "00006" "PCCB_000013" "g.135979380_135979383del" "" "{PMID:Ohura 1995:07789958}" "" "IVS4+3del4" "" "Germline" "" "" "0" "" "" "g.136260538_136260541del" "" "pathogenic" "" "0000169540" "1" "90" "3" "136048854" "136048854" "subst" "1.62558E-5" "00006" "PCCB_000014" "g.136048854A>G" "" "{PMID:Gravel 1994:08023851}" "" "" "" "Germline" "" "" "0" "" "" "g.136330012A>G" "" "pathogenic" "" "0000169541" "2" "90" "3" "136012626" "136012626" "subst" "4.47114E-5" "00006" "PCCB_000015" "g.136012626C>T" "" "{PMID:Gravel 1994:08023851}" "" "" "" "Germline" "" "" "0" "" "" "g.136293784C>T" "" "pathogenic" "" "0000169542" "1" "90" "3" "135979366" "135979377" "dup" "0" "00006" "PCCB_000016" "g.135979366_135979377dup" "" "{PMID:Gravel 1994:08023851}" "" "419AAAAGATCTGCAdup" "" "Germline" "" "" "0" "" "" "g.136260524_136260535dup" "" "pathogenic" "" "0000169543" "2" "90" "3" "136046575" "136046575" "subst" "0" "00006" "PCCB_000017" "g.136046575G>T" "" "{PMID:Gravel 1994:08023851}" "" "" "" "Germline" "" "" "0" "" "" "g.136327733G>T" "" "pathogenic" "" "0000169544" "1" "90" "3" "136048854" "136048854" "subst" "1.62558E-5" "00006" "PCCB_000014" "g.136048854A>G" "" "{PMID:Gravel 1994:08023851}" "" "" "" "Germline" "" "" "0" "" "" "g.136330012A>G" "" "pathogenic" "" "0000169545" "2" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Gravel 1994:08023851}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169546" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Gravel 1994:08023851}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169547" "2" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Gravel 1994:08023851}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169548" "1" "90" "3" "136046026" "136046026" "subst" "2.44115E-5" "00006" "PCCB_000007" "g.136046026C>T" "" "{PMID:Gravel 1994:08023851}" "" "" "" "Germline" "" "" "0" "" "" "g.136327184C>T" "" "pathogenic" "" "0000169549" "2" "90" "3" "136046026" "136046026" "subst" "2.44115E-5" "00006" "PCCB_000007" "g.136046026C>T" "" "{PMID:Gravel 1994:08023851}" "" "" "" "Germline" "" "" "0" "" "" "g.136327184C>T" "" "pathogenic" "" "0000169550" "1" "90" "3" "136046023" "136046025" "del" "0" "00006" "PCCB_000005" "g.136046023_136046025del" "" "{PMID:Gravel 1994:08023851}" "" "" "" "Germline" "" "" "0" "" "" "g.136327181_136327183del" "" "pathogenic" "" "0000169551" "2" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Gravel 1994:08023851}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169552" "1" "90" "3" "136045727" "136045727" "dup" "0" "00006" "PCCB_000018" "g.136045727dup" "" "{PMID:Hoenicka 1998:09452096}" "" "" "" "Germline" "" "" "0" "" "" "g.136326885dup" "" "pathogenic" "" "0000169553" "2" "90" "3" "136045727" "136045727" "dup" "0" "00006" "PCCB_000018" "g.136045727dup" "" "{PMID:Hoenicka 1998:09452096}" "" "" "" "Germline" "" "" "0" "" "" "g.136326885dup" "" "pathogenic" "" "0000169554" "1" "90" "3" "136045727" "136045727" "dup" "0" "00006" "PCCB_000018" "g.136045727dup" "" "{PMID:Hoenicka 1998:09452096}" "" "" "" "Germline" "" "" "0" "" "" "g.136326885dup" "" "pathogenic" "" "0000169555" "2" "90" "3" "136045727" "136045727" "dup" "0" "00006" "PCCB_000018" "g.136045727dup" "" "{PMID:Hoenicka 1998:09452096}" "" "" "" "Germline" "" "" "0" "" "" "g.136326885dup" "" "pathogenic" "" "0000169556" "1" "90" "3" "136045727" "136045727" "dup" "0" "00006" "PCCB_000018" "g.136045727dup" "6/36" "{PMID:Hoenicka 1998:09452096}" "" "" "" "Germline" "" "" "0" "" "" "g.136326885dup" "" "pathogenic" "" "0000169557" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169558" "2" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169559" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169560" "2" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169561" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169562" "2" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169563" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169564" "2" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169565" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169566" "2" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169567" "1" "90" "3" "136045727" "136045727" "dup" "0" "00006" "PCCB_000018" "g.136045727dup" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "1170insT" "" "Germline" "" "" "0" "" "" "g.136326885dup" "" "pathogenic" "" "0000169568" "2" "90" "3" "136045727" "136045727" "dup" "0" "00006" "PCCB_000018" "g.136045727dup" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "1170insT" "" "Germline" "" "" "0" "" "" "g.136326885dup" "" "pathogenic" "" "0000169569" "1" "90" "3" "136045727" "136045727" "dup" "0" "00006" "PCCB_000018" "g.136045727dup" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "1170insT" "" "Germline" "" "" "0" "" "" "g.136326885dup" "" "pathogenic" "" "0000169570" "2" "90" "3" "136045727" "136045727" "dup" "0" "00006" "PCCB_000018" "g.136045727dup" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "1170insT" "" "Germline" "" "" "0" "" "" "g.136326885dup" "" "pathogenic" "" "0000169571" "1" "90" "3" "135980866" "135980866" "subst" "0" "00006" "PCCB_000019" "g.135980866G>A" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "E168K" "" "Germline" "" "" "0" "" "" "g.136262024G>A" "" "pathogenic" "" "0000169572" "2" "90" "3" "135980866" "135980866" "subst" "0" "00006" "PCCB_000019" "g.135980866G>A" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "E168K" "" "Germline" "" "" "0" "" "" "g.136262024G>A" "" "pathogenic" "" "0000169573" "1" "90" "3" "135980866" "135980866" "subst" "0" "00006" "PCCB_000019" "g.135980866G>A" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "E168K" "" "Germline" "" "" "0" "" "" "g.136262024G>A" "" "pathogenic" "" "0000169574" "2" "90" "3" "135980866" "135980866" "subst" "0" "00006" "PCCB_000019" "g.135980866G>A" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "E168K" "" "Germline" "" "" "0" "" "" "g.136262024G>A" "" "pathogenic" "" "0000169575" "1" "30" "3" "136047691" "136047691" "subst" "0.00204052" "00006" "PCCB_000020" "g.136047691C>T" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "A497V" "" "Germline" "" "" "0" "" "" "g.136328849C>T" "" "likely benign" "" "0000169576" "2" "30" "3" "136047691" "136047691" "subst" "0.00204052" "00006" "PCCB_000020" "g.136047691C>T" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "A497V" "" "Germline" "" "" "0" "" "" "g.136328849C>T" "" "likely benign" "" "0000169577" "1" "50" "3" "136002788" "136002788" "subst" "0" "00006" "PCCB_000022" "g.136002788A>G" "" "{PMID:Muro 2001:11749052}, {PMID:Perez 2003:12559849}" "" "K218R / V217-K218del2" "" "Germline" "" "" "0" "" "" "g.136283946A>G" "" "VUS" "" "0000169578" "1" "90" "3" "136002728" "136002728" "subst" "4.06124E-6" "00006" "PCCB_000021" "g.136002728G>A" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "G198D" "" "Germline" "" "" "0" "" "" "g.136283886G>A" "" "pathogenic" "" "0000169579" "2" "50" "3" "135980858" "135980858" "subst" "0" "00006" "PCCB_000023" "g.135980858G>A" "" "{PMID:Muro 2001:11749052}" "" "R165Q" "" "Germline" "" "" "0" "" "" "g.136262016G>A" "" "VUS" "" "0000169580" "2" "90" "3" "136002728" "136002728" "subst" "4.06124E-6" "00006" "PCCB_000021" "g.136002728G>A" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "G198D" "" "Germline" "" "" "0" "" "" "g.136283886G>A" "" "pathogenic" "" "0000169581" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169582" "2" "90" "3" "135980866" "135980866" "subst" "0" "00006" "PCCB_000019" "g.135980866G>A" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "E168K" "" "Germline" "" "" "0" "" "" "g.136262024G>A" "" "pathogenic" "" "0000169583" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169584" "2" "90" "3" "135980866" "135980866" "subst" "0" "00006" "PCCB_000019" "g.135980866G>A" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "E168K" "" "Germline" "" "" "0" "" "" "g.136262024G>A" "" "pathogenic" "" "0000169585" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169586" "2" "90" "3" "135980866" "135980866" "subst" "0" "00006" "PCCB_000019" "g.135980866G>A" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "E168K" "" "Germline" "" "" "0" "" "" "g.136262024G>A" "" "pathogenic" "" "0000169587" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169588" "2" "30" "3" "136047691" "136047691" "subst" "0.00204052" "00006" "PCCB_000020" "g.136047691C>T" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "A497V" "" "Germline" "" "" "0" "" "" "g.136328849C>T" "" "likely benign" "" "0000169589" "2" "90" "3" "135980858" "135980858" "subst" "0" "00006" "PCCB_000023" "g.135980858G>A" "" "{PMID:Muro 2001:11749052}" "" "R165Q" "" "Germline" "" "" "0" "" "" "g.136262016G>A" "" "pathogenic" "" "0000169590" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169591" "2" "90" "3" "135969348" "135969348" "subst" "0" "00006" "PCCB_000024" "g.135969348G>C" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "R44P" "" "Germline" "" "" "0" "" "" "g.136250506G>C" "" "pathogenic" "" "0000169592" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169593" "2" "90" "3" "136048841" "136048841" "subst" "0" "00006" "PCCB_000025" "g.136048841G>A" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "W531X" "" "Germline" "" "" "0" "" "" "g.136329999G>A" "" "pathogenic" "" "0000169594" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169595" "2" "90" "3" "136048782" "136048782" "subst" "4.06501E-6" "00006" "PCCB_000026" "g.136048782C>T" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "R512C" "" "Germline" "" "" "0" "" "" "g.136329940C>T" "" "pathogenic" "" "0000169596" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169597" "2" "90" "3" "135980857" "135980857" "subst" "0" "00006" "PCCB_000011" "g.135980857C>T" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "R165W" "" "Germline" "" "" "0" "" "" "g.136262015C>T" "" "pathogenic" "" "0000169598" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169599" "2" "90" "3" "135979339" "135979339" "subst" "0" "00006" "PCCB_000027" "g.135979339G>C" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "G131R" "" "Germline" "" "" "0" "" "" "g.136260497G>C" "" "pathogenic" "" "0000169600" "1" "90" "3" "136045727" "136045727" "dup" "0" "00006" "PCCB_000018" "g.136045727dup" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "1170insT" "" "Germline" "" "" "0" "" "" "g.136326885dup" "" "pathogenic" "" "0000169601" "2" "90" "3" "135980866" "135980866" "subst" "0" "00006" "PCCB_000019" "g.135980866G>A" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "E168K" "" "Germline" "" "" "0" "" "" "g.136262024G>A" "" "pathogenic" "" "0000169602" "1" "90" "3" "136045727" "136045727" "dup" "0" "00006" "PCCB_000018" "g.136045727dup" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "1170insT" "" "Germline" "" "" "0" "" "" "g.136326885dup" "" "pathogenic" "" "0000169603" "2" "90" "3" "135980866" "135980866" "subst" "0" "00006" "PCCB_000019" "g.135980866G>A" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "E168K" "" "Germline" "" "" "0" "" "" "g.136262024G>A" "" "pathogenic" "" "0000169604" "1" "90" "3" "136045727" "136045727" "dup" "0" "00006" "PCCB_000018" "g.136045727dup" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "1170insT" "" "Germline" "" "" "0" "" "" "g.136326885dup" "" "pathogenic" "" "0000169605" "2" "90" "3" "136048804" "136048804" "subst" "4.06431E-6" "00006" "PCCB_000028" "g.136048804T>C" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "L519P" "" "Germline" "" "" "0" "" "" "g.136329962T>C" "" "pathogenic" "" "0000169606" "1" "30" "3" "136047691" "136047691" "subst" "0.00204052" "00006" "PCCB_000020" "g.136047691C>T" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "A497V" "" "Germline" "" "" "0" "" "" "g.136328849C>T" "" "likely benign" "" "0000169607" "1" "90" "3" "136002788" "136002788" "subst" "0" "00006" "PCCB_000022" "g.136002788A>G" "" "{PMID:Muro 2001:11749052}, {PMID:Perez 2003:12559849}" "" "K218R / V217-K218del2" "" "Germline" "" "" "0" "" "" "g.136283946A>G" "" "pathogenic" "" "0000169608" "2" "90" "3" "135975411" "135975411" "subst" "0" "00006" "PCCB_000029" "g.135975411C>A" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "S106R" "" "Germline" "" "" "0" "" "" "g.136256569C>A" "" "pathogenic" "" "0000169609" "1" "90" "3" "135980866" "135980866" "subst" "0" "00006" "PCCB_000019" "g.135980866G>A" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "E168K" "" "Germline" "" "" "0" "" "" "g.136262024G>A" "" "pathogenic" "" "0000169610" "2" "90" "3" "135969403" "135969403" "subst" "4.33249E-6" "00006" "PCCB_000030" "g.135969403G>C" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "IVS1+3G>C" "" "Germline" "" "" "0" "" "" "g.136250561G>C" "" "pathogenic" "" "0000169611" "1" "90" "3" "136046026" "136046026" "subst" "2.44115E-5" "00006" "PCCB_000007" "g.136046026C>T" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "R410W" "" "Germline" "" "" "0" "" "" "g.136327184C>T" "" "pathogenic" "" "0000169612" "2" "90" "3" "136045637" "136045642" "del" "0" "00006" "PCCB_000031" "g.136045637_136045642del" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "IVS10-11del6" "" "Germline" "" "" "0" "" "" "g.136326795_136326800del" "" "pathogenic" "" "0000169613" "1" "90" "3" "136046026" "136046026" "subst" "2.44115E-5" "00006" "PCCB_000007" "g.136046026C>T" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "R410W" "" "Germline" "" "" "0" "" "" "g.136327184C>T" "" "pathogenic" "" "0000169614" "2" "90" "3" "136035806" "136035806" "dup" "0" "00006" "PCCB_000032" "g.136035806dup" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "985-990insT" "" "Germline" "" "" "0" "" "" "g.136316964dup" "" "pathogenic" "" "0000169615" "1" "90" "3" "136045727" "136045727" "dup" "0" "00006" "PCCB_000018" "g.136045727dup" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "1170insT" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.136326885dup" "" "pathogenic" "" "0000169616" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Rodriguez-Pombo 1998:09683601}" "" "" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169617" "2" "90" "3" "136046096" "136046096" "dup" "0" "00006" "PCCB_000033" "g.136046096dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136327254dup" "" "pathogenic" "" "0000169618" "1" "90" "3" "136048786" "136048788" "dup" "0" "00006" "PCCB_000034" "g.136048786_136048788dup" "" "{PMID:Ravn 2000:10820128}" "" "1540insCCC (513insP)" "not in 100 control chromosomes (Denmark)" "Germline" "" "" "0" "" "" "g.136329944_136329946dup" "" "pathogenic" "" "0000169619" "2" "90" "3" "136048786" "136048788" "dup" "0" "00006" "PCCB_000034" "g.136048786_136048788dup" "" "{PMID:Ravn 2000:10820128}" "" "1540insCCC (513insP)" "not in 100 control chromosomes (Denmark)" "Germline" "" "" "0" "" "" "g.136329944_136329946dup" "" "pathogenic" "" "0000169620" "1" "90" "3" "136048786" "136048788" "dup" "0" "00006" "PCCB_000034" "g.136048786_136048788dup" "15/310 controls" "{PMID:Ravn 2000:10820128}" "" "1540insCCC (513insP)" "300 controls" "Germline" "" "" "0" "" "" "g.136329944_136329946dup" "" "pathogenic" "" "0000169621" "1" "30" "3" "136047691" "136047691" "subst" "0.00204052" "00006" "PCCB_000020" "g.136047691C>T" "" "{PMID:Muro 2001:11749052}" "" "A497V" "" "Germline" "" "" "0" "" "" "g.136328849C>T" "" "likely benign" "" "0000169622" "1" "90" "3" "135980858" "135980858" "subst" "0" "00006" "PCCB_000023" "g.135980858G>A" "" "{PMID:Muro 2001:11749052}" "" "R165Q" "" "Germline" "" "" "0" "" "" "g.136262016G>A" "" "pathogenic" "" "0000169623" "2" "90" "3" "135974715" "135974715" "subst" "0" "00006" "PCCB_000035" "g.135974715G>Y" "" "{PMID:Muro 2001:11749052}" "" "R67S" "" "Germline" "" "" "0" "" "" "g.136255873G>Y" "" "pathogenic" "" "0000169624" "1" "50" "3" "135969266" "135969266" "subst" "0.00154264" "00006" "PCCB_000036" "g.135969266C>A" "" "{PMID:Muro 1999:10447268}" "" "" "" "Germline" "" "" "0" "" "" "g.136250424C>A" "" "VUS" "" "0000169625" "1" "90" "3" "136016820" "136016820" "dup" "0" "00006" "PCCB_000037" "g.136016820dup" "" "{PMID:Muro 1999:10447268}" "" "790insG" "" "Germline" "" "" "0" "" "" "g.136297978dup" "" "pathogenic" "" "0000169626" "2" "90" "3" "135980866" "135980866" "subst" "0" "00006" "PCCB_000019" "g.135980866G>A" "" "{PMID:Muro 1999:10447268}" "" "" "" "Germline" "" "" "0" "" "" "g.136262024G>A" "" "pathogenic" "" "0000169627" "1" "90" "3" "136046501" "136046501" "subst" "0" "00006" "PCCB_000038" "g.136046501T>C" "" "{PMID:Muro 1999:10447268}" "" "" "" "Germline" "" "" "0" "" "" "g.136327659T>C" "" "pathogenic" "" "0000169628" "2" "90" "3" "136045727" "136045727" "dup" "0" "00006" "PCCB_000018" "g.136045727dup" "" "{PMID:Muro 1999:10447268}" "" "1170insT" "" "Germline" "" "" "0" "" "" "g.136326885dup" "" "pathogenic" "" "0000169629" "1" "90" "3" "136002749" "136002749" "subst" "0" "00006" "PCCB_000039" "g.136002749T>A" "" "{PMID:Muro 1999:10447268}" "" "V205D" "" "Germline" "" "" "0" "" "" "g.136283907T>A" "" "pathogenic" "" "0000169630" "2" "90" "3" "136002749" "136002749" "subst" "0" "00006" "PCCB_000039" "g.136002749T>A" "" "{PMID:Muro 1999:10447268}" "" "V205D" "" "Germline" "" "" "0" "" "" "g.136283907T>A" "" "pathogenic" "" "0000169631" "1" "90" "3" "136046081" "136046081" "subst" "2.44125E-5" "00006" "PCCB_000009" "g.136046081C>T" "" "{PMID:Yorifuji 2002:12189489}" "" "C1283T" "" "Germline" "" "" "0" "" "" "g.136327239C>T" "" "pathogenic" "" "0000169632" "2" "90" "3" "136046480" "136046480" "subst" "6.09568E-5" "00006" "PCCB_000040" "g.136046480A>G" "" "{PMID:Yorifuji 2002:12189489}" "" "T1304C (Y435C)" "" "Germline" "" "" "0" "" "" "g.136327638A>G" "" "pathogenic" "" "0000169633" "1" "90" "3" "136046081" "136046081" "subst" "2.44125E-5" "00006" "PCCB_000009" "g.136046081C>T" "" "{PMID:Yorifuji 2002:12189489}" "" "C1283T" "" "Germline" "" "" "0" "" "" "g.136327239C>T" "" "pathogenic" "" "0000169634" "2" "90" "3" "136046086" "136046086" "subst" "0" "00006" "PCCB_000041" "g.136046086A>C" "" "{PMID:Yorifuji 2002:12189489}" "" "A1288C" "" "Germline" "" "" "0" "" "" "g.136327244A>C" "" "pathogenic" "" "0000169635" "1" "90" "3" "136046480" "136046480" "subst" "6.09568E-5" "00006" "PCCB_000040" "g.136046480A>G" "" "{PMID:Yorifuji 2002:12189489}" "" "T1304C (Y435C)" "" "Germline" "" "" "0" "" "" "g.136327638A>G" "" "pathogenic" "" "0000169636" "2" "90" "3" "136046480" "136046480" "subst" "6.09568E-5" "00006" "PCCB_000040" "g.136046480A>G" "" "{PMID:Yorifuji 2002:12189489}" "" "T1304C (Y435C)" "" "Germline" "" "" "0" "" "" "g.136327638A>G" "" "pathogenic" "" "0000169637" "1" "90" "3" "136046480" "136046480" "subst" "6.09568E-5" "00006" "PCCB_000040" "g.136046480A>G" "" "{PMID:Yorifuji 2002:12189489}" "" "T1304C (Y435C)" "" "Germline" "" "" "0" "" "" "g.136327638A>G" "" "pathogenic" "" "0000169638" "2" "90" "3" "136046480" "136046480" "subst" "6.09568E-5" "00006" "PCCB_000040" "g.136046480A>G" "" "{PMID:Yorifuji 2002:12189489}" "" "T1304C (Y435C)" "" "Germline" "" "" "0" "" "" "g.136327638A>G" "" "pathogenic" "" "0000169639" "1" "90" "3" "136047696" "136047696" "subst" "4.06537E-6" "00006" "PCCB_000010" "g.136047696C>T" "" "{PMID:Yorifuji 2002:12189489}" "" "C1495T" "" "Germline" "" "" "0" "" "" "g.136328854C>T" "" "pathogenic" "" "0000169640" "2" "90" "3" "136046492" "136046492" "subst" "2.03146E-5" "00006" "PCCB_000042" "g.136046492A>G" "" "{PMID:Yorifuji 2002:12189489}" "" "T1316C (Y439C)" "" "Germline" "" "" "0" "" "" "g.136327650A>G" "" "pathogenic" "" "0000169641" "1" "90" "3" "136046480" "136046480" "subst" "6.09568E-5" "00006" "PCCB_000040" "g.136046480A>G" "" "{PMID:Yorifuji 2002:12189489}" "" "T1304C (Y435C)" "" "Germline" "" "" "0" "" "" "g.136327638A>G" "" "pathogenic" "" "0000169642" "2" "90" "3" "136046480" "136046480" "subst" "6.09568E-5" "00006" "PCCB_000040" "g.136046480A>G" "" "{PMID:Yorifuji 2002:12189489}" "" "T1304C (Y435C)" "" "Germline" "" "" "0" "" "" "g.136327638A>G" "" "pathogenic" "" "0000169643" "1" "90" "3" "136046480" "136046480" "subst" "6.09568E-5" "00006" "PCCB_000040" "g.136046480A>G" "" "{PMID:Yorifuji 2002:12189489}" "" "T1304C (Y435C)" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.136327638A>G" "" "pathogenic" "" "0000169644" "1" "90" "3" "136046480" "136046480" "subst" "6.09568E-5" "00006" "PCCB_000040" "g.136046480A>G" "" "{PMID:Yorifuji 2002:12189489}" "" "T1304C (Y435C)" "" "Germline" "" "" "0" "" "" "g.136327638A>G" "" "pathogenic" "" "0000169645" "2" "90" "3" "136046480" "136046480" "subst" "6.09568E-5" "00006" "PCCB_000040" "g.136046480A>G" "" "{PMID:Yorifuji 2002:12189489}" "" "T1304C (Y435C)" "" "Germline" "" "" "0" "" "" "g.136327638A>G" "" "pathogenic" "" "0000169646" "1" "90" "3" "136046480" "136046480" "subst" "6.09568E-5" "00006" "PCCB_000040" "g.136046480A>G" "" "{PMID:Yorifuji 2002:12189489}" "" "T1304C (Y435C)" "" "Germline" "" "" "0" "" "" "g.136327638A>G" "" "pathogenic" "" "0000169647" "2" "90" "3" "136046480" "136046480" "subst" "6.09568E-5" "00006" "PCCB_000040" "g.136046480A>G" "" "{PMID:Yorifuji 2002:12189489}" "" "T1304C (Y435C)" "" "Germline" "" "" "0" "" "" "g.136327638A>G" "" "pathogenic" "" "0000169648" "1" "90" "3" "136046480" "136046480" "subst" "6.09568E-5" "00006" "PCCB_000040" "g.136046480A>G" "" "{PMID:Yorifuji 2002:12189489}" "" "T1304C (Y435C)" "" "Germline" "" "" "0" "" "" "g.136327638A>G" "" "pathogenic" "" "0000169649" "2" "90" "3" "136047603" "136047603" "subst" "1.2205E-5" "00006" "PCCB_000043" "g.136047603G>A" "" "{PMID:Yorifuji 2002:12189489}" "" "G1402A" "" "Germline" "" "" "0" "" "" "g.136328761G>A" "" "pathogenic" "" "0000169650" "1" "90" "3" "136046492" "136046492" "subst" "2.03146E-5" "00006" "PCCB_000042" "g.136046492A>G" "" "{PMID:Kim 2002:12409268}" "" "" "" "Germline" "" "" "0" "" "" "g.136327650A>G" "" "pathogenic" "" "0000169651" "2" "90" "3" "135969248" "135969257" "del" "0" "00006" "PCCB_000044" "g.135969248_135969257del" "" "{PMID:Kim 2002:12409268}" "" "" "" "Germline" "" "" "0" "" "" "g.136250406_136250415del" "" "pathogenic" "" "0000169652" "1" "90" "3" "136046081" "136046081" "subst" "2.44125E-5" "00006" "PCCB_000009" "g.136046081C>T" "" "{PMID:Kim 2002:12409268}" "" "" "" "Germline" "" "" "0" "" "" "g.136327239C>T" "" "pathogenic" "" "0000169653" "2" "90" "3" "136046492" "136046492" "subst" "2.03146E-5" "00006" "PCCB_000042" "g.136046492A>G" "" "{PMID:Kim 2002:12409268}" "" "" "" "Germline" "" "" "0" "" "" "g.136327650A>G" "" "pathogenic" "" "0000169654" "1" "90" "3" "136046468" "136046468" "subst" "0" "00006" "PCCB_000045" "g.136046468T>A" "" "{PMID:Kim 2002:12409268}" "" "" "" "Germline" "" "" "0" "" "" "g.136327626T>A" "" "pathogenic" "" "0000169655" "2" "90" "3" "136046081" "136046081" "subst" "2.44125E-5" "00006" "PCCB_000009" "g.136046081C>T" "" "{PMID:Kim 2002:12409268}" "" "" "" "Germline" "" "" "0" "" "" "g.136327239C>T" "" "pathogenic" "" "0000169656" "1" "90" "3" "136046081" "136046081" "subst" "2.44125E-5" "00006" "PCCB_000009" "g.136046081C>T" "" "{PMID:Kim 2002:12409268}" "" "" "" "Germline" "" "" "0" "" "" "g.136327239C>T" "" "pathogenic" "" "0000169657" "2" "90" "3" "136046081" "136046081" "subst" "2.44125E-5" "00006" "PCCB_000009" "g.136046081C>T" "" "{PMID:Kim 2002:12409268}" "" "" "" "Germline" "" "" "0" "" "" "g.136327239C>T" "" "pathogenic" "" "0000169658" "1" "90" "3" "136048775" "136048777" "del" "0" "00006" "PCCB_000046" "g.136048775_136048777del" "" "{PMID:Kim 2002:12409268}" "" "" "" "Germline" "" "" "0" "" "" "g.136329933_136329935del" "" "pathogenic" "" "0000169659" "2" "90" "3" "136048775" "136048777" "del" "0" "00006" "PCCB_000046" "g.136048775_136048777del" "" "{PMID:Kim 2002:12409268}" "" "" "" "Germline" "" "" "0" "" "" "g.136329933_136329935del" "" "pathogenic" "" "0000169660" "1" "90" "3" "136046081" "136046081" "subst" "2.44125E-5" "00006" "PCCB_000009" "g.136046081C>T" "" "{PMID:Kim 2002:12409268}" "" "" "" "Germline" "" "" "0" "" "" "g.136327239C>T" "" "pathogenic" "" "0000169661" "2" "90" "3" "136046081" "136046081" "subst" "2.44125E-5" "00006" "PCCB_000009" "g.136046081C>T" "" "{PMID:Kim 2002:12409268}" "" "" "" "Germline" "" "" "0" "" "" "g.136327239C>T" "" "pathogenic" "" "0000169662" "1" "90" "3" "136046081" "136046081" "subst" "2.44125E-5" "00006" "PCCB_000009" "g.136046081C>T" "" "{PMID:Kim 2002:12409268}" "" "" "" "Germline" "" "" "0" "" "" "g.136327239C>T" "" "pathogenic" "" "0000169663" "2" "90" "3" "136046081" "136046081" "subst" "2.44125E-5" "00006" "PCCB_000009" "g.136046081C>T" "" "{PMID:Kim 2002:12409268}" "" "" "" "Germline" "" "" "0" "" "" "g.136327239C>T" "" "pathogenic" "" "0000169664" "1" "90" "3" "136046081" "136046081" "subst" "2.44125E-5" "00006" "PCCB_000009" "g.136046081C>T" "" "{PMID:Kim 2002:12409268}" "" "" "" "Germline" "" "" "0" "" "" "g.136327239C>T" "" "pathogenic" "" "0000169665" "2" "90" "3" "136046533" "136046533" "dup" "0" "00006" "PCCB_000047" "g.136046533dup" "" "{PMID:Kim 2002:12409268}" "" "" "" "Germline" "" "" "0" "" "" "g.136327691dup" "" "pathogenic" "" "0000169666" "1" "90" "3" "136012680" "136012680" "subst" "0" "00006" "PCCB_000048" "g.136012680G>T" "" "{PMID:Perez 2003:12559849}" "" "G246V" "" "Germline" "" "" "0" "" "" "g.136293838G>T" "" "pathogenic" "" "0000169667" "2" "90" "3" "136012680" "136012680" "subst" "0" "00006" "PCCB_000048" "g.136012680G>T" "" "{PMID:Perez 2003:12559849}" "" "G246V" "" "Germline" "" "" "0" "" "" "g.136293838G>T" "" "pathogenic" "" "0000169668" "1" "90" "3" "136035806" "136035806" "dup" "0" "00006" "PCCB_000032" "g.136035806dup" "" "{PMID:Perez 2003:12559849}" "" "985-990insT" "" "Germline" "" "" "0" "" "" "g.136316964dup" "" "pathogenic" "" "0000169669" "2" "90" "3" "136035836" "136035838" "del" "0" "00006" "PCCB_000049" "g.136035836_136035838del" "" "{PMID:Perez 2003:12559849}" "" "1020-1021delATC (I341del)" "" "Germline" "" "" "0" "" "" "g.136316994_136316996del" "" "pathogenic" "" "0000169670" "1" "30" "3" "136047691" "136047691" "subst" "0.00204052" "00006" "PCCB_000020" "g.136047691C>T" "" "{PMID:Perez 2003:12559849}" "" "A497V" "" "Germline" "" "" "0" "" "" "g.136328849C>T" "" "likely benign" "" "0000169671" "1" "90" "3" "135980858" "135980858" "subst" "0" "00006" "PCCB_000023" "g.135980858G>A" "" "{PMID:Perez 2003:12559849}" "" "R165Q" "" "Germline" "" "" "0" "" "" "g.136262016G>A" "" "pathogenic" "" "0000169672" "2" "30" "3" "136047691" "136047691" "subst" "0.00204052" "00006" "PCCB_000020" "g.136047691C>T" "" "{PMID:Perez 2003:12559849}" "" "A497V" "" "Germline" "" "" "0" "" "" "g.136328849C>T" "" "likely benign" "" "0000169673" "2" "90" "3" "135980858" "135980858" "subst" "0" "00006" "PCCB_000023" "g.135980858G>A" "" "{PMID:Perez 2003:12559849}" "" "R165Q" "" "Germline" "" "" "0" "" "" "g.136262016G>A" "" "pathogenic" "" "0000169674" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Perez 2003:12559849}" "" "Ins.del" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169675" "2" "90" "3" "135980866" "135980866" "subst" "0" "00006" "PCCB_000019" "g.135980866G>A" "" "{PMID:Perez 2003:12559849}" "" "E168K" "" "Germline" "" "" "0" "" "" "g.136262024G>A" "" "pathogenic" "" "0000169676" "1" "90" "3" "135975428" "135975428" "subst" "0" "00006" "PCCB_000050" "g.135975428G>A" "" "{PMID:Perez 2003:12559849}" "" "G112D" "" "Germline" "" "" "0" "" "" "g.136256586G>A" "" "pathogenic" "" "0000169677" "2" "90" "3" "136002697" "136002697" "subst" "4.06154E-6" "00006" "PCCB_000051" "g.136002697G>A" "" "{PMID:Perez 2003:12559849}" "" "G188R" "" "Germline" "" "" "0" "" "" "g.136283855G>A" "" "pathogenic" "" "0000169678" "1" "90" "3" "135975412" "135975412" "subst" "0" "00006" "PCCB_000052" "g.135975412G>A" "" "{PMID:Perez 2003:12559849}" "" "V107M" "" "Germline" "" "" "0" "" "" "g.136256570G>A" "" "pathogenic" "" "0000169679" "2" "90" "3" "135975412" "135975412" "subst" "0" "00006" "PCCB_000052" "g.135975412G>A" "" "{PMID:Perez 2003:12559849}" "" "V107M" "" "Germline" "" "" "0" "" "" "g.136256570G>A" "" "pathogenic" "" "0000169680" "1" "90" "3" "135975412" "135975412" "subst" "0" "00006" "PCCB_000052" "g.135975412G>A" "" "{PMID:Perez 2003:12559849}" "" "V107M" "" "Germline" "" "" "0" "" "" "g.136256570G>A" "" "pathogenic" "" "0000169681" "2" "90" "3" "135975412" "135975412" "subst" "0" "00006" "PCCB_000052" "g.135975412G>A" "" "{PMID:Perez 2003:12559849}" "" "V107M" "" "Germline" "" "" "0" "" "" "g.136256570G>A" "" "pathogenic" "" "0000169682" "1" "90" "3" "136045995" "136045995" "subst" "0" "00006" "PCCB_000053" "g.136045995A>G" "" "{PMID:Perez 2003:12559849}" "" "IVS11-2A>G" "" "Germline" "" "" "0" "" "" "g.136327153A>G" "" "pathogenic" "" "0000169683" "2" "90" "3" "136045995" "136045995" "subst" "0" "00006" "PCCB_000053" "g.136045995A>G" "" "{PMID:Perez 2003:12559849}" "" "IVS11-2A>G" "" "Germline" "" "" "0" "" "" "g.136327153A>G" "" "pathogenic" "" "0000169684" "1" "90" "3" "136045727" "136045727" "dup" "0" "00006" "PCCB_000018" "g.136045727dup" "" "{PMID:Perez 2003:12559849}" "" "1170insT" "" "Germline" "" "" "0" "" "" "g.136326885dup" "" "pathogenic" "" "0000169685" "2" "90" "3" "136016792" "136016792" "del" "0" "00006" "PCCB_000054" "g.136016792del" "" "{PMID:Perez 2003:12559849}" "" "IVS7-2delA" "" "Germline" "" "" "0" "" "" "g.136297950del" "" "pathogenic" "" "0000169686" "1" "90" "3" "135975428" "135975428" "subst" "0" "00006" "PCCB_000050" "g.135975428G>A" "" "{PMID:Perez 2003:12559849}" "" "G112D" "" "Germline" "" "" "0" "" "" "g.136256586G>A" "" "pathogenic" "" "0000169687" "2" "90" "3" "136046002" "136046002" "del" "0" "00006" "PCCB_000055" "g.136046002del" "" "{PMID:Perez 2003:12559849}" "" "1204delG" "" "Germline" "" "" "0" "" "" "g.136327160del" "" "pathogenic" "" "0000169688" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Perez 2003:12559849}" "" "Ins.del" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169689" "2" "90" "3" "135979380" "135979383" "del" "0" "00006" "PCCB_000013" "g.135979380_135979383del" "" "{PMID:Perez 2003:12559849}" "" "IVS4+3del4" "" "Germline" "" "" "0" "" "" "g.136260538_136260541del" "" "pathogenic" "" "0000169690" "1" "90" "3" "135980908" "135980908" "subst" "0" "00006" "PCCB_000056" "g.135980908G>A" "" "{PMID:Perez 2003:12559849}" "" "IVS5nt1G>A" "" "Germline" "" "" "0" "" "" "g.136262066G>A" "" "pathogenic" "" "0000169691" "2" "90" "3" "135980908" "135980908" "subst" "0" "00006" "PCCB_000056" "g.135980908G>A" "" "{PMID:Perez 2003:12559849}" "" "IVS5nt1G>A" "" "Germline" "" "" "0" "" "" "g.136262066G>A" "" "pathogenic" "" "0000169692" "1" "90" "3" "136002697" "136002697" "subst" "4.06154E-6" "00006" "PCCB_000051" "g.136002697G>A" "" "{PMID:Perez 2003:12559849}" "" "G188R" "" "Germline" "" "" "0" "" "" "g.136283855G>A" "" "pathogenic" "" "0000169693" "2" "90" "3" "136048746" "136048746" "subst" "0" "00006" "PCCB_000057" "g.136048746G>C" "" "{PMID:Perez 2003:12559849}" "" "IVS14-1G>C" "" "Germline" "" "" "0" "" "" "g.136329904G>C" "" "pathogenic" "" "0000169694" "1" "90" "3" "136046026" "136046026" "subst" "2.44115E-5" "00006" "PCCB_000007" "g.136046026C>T" "" "{PMID:Yang 2004:15059621}" "" "R410W" "" "Germline" "" "" "0" "" "" "g.136327184C>T" "" "pathogenic" "" "0000169695" "1" "90" "3" "136046081" "136046081" "subst" "2.44125E-5" "00006" "PCCB_000009" "g.136046081C>T" "" "{PMID:Yang 2004:15059621}" "" "T428I" "" "Germline" "" "" "0" "" "" "g.136327239C>T" "" "pathogenic" "" "0000169696" "1" "90" "3" "136048782" "136048782" "subst" "4.06501E-6" "00006" "PCCB_000026" "g.136048782C>T" "" "{PMID:Yang 2004:15059621}" "" "R512C" "" "Germline" "" "" "0" "" "" "g.136329940C>T" "" "pathogenic" "" "0000169697" "1" "90" "3" "135980821" "135980821" "subst" "0" "00006" "PCCB_000058" "g.135980821G>C" "" "{PMID:Yang 2004:15059621}" "" "A153P" "" "Germline" "" "" "0" "" "" "g.136261979G>C" "" "pathogenic" "" "0000169698" "1" "90" "3" "135980857" "135980857" "subst" "0" "00006" "PCCB_000011" "g.135980857C>T" "" "{PMID:Yang 2004:15059621}" "" "R165W" "" "Germline" "" "" "0" "" "" "g.136262015C>T" "" "pathogenic" "" "0000169699" "1" "90" "3" "136019954" "136019954" "subst" "0" "00006" "PCCB_000059" "g.136019954G>T" "" "{PMID:Yang 2004:15059621}" "" "IVS9+1G>T" "" "Germline" "" "" "0" "" "" "g.136301112G>T" "" "pathogenic" "" "0000169700" "1" "90" "3" "135969372" "135969417" "del" "0" "00006" "PCCB_000060" "g.135969372_135969417del" "" "{PMID:Desviat 2006:17051315}" "" "154-183+17del46" "" "Germline" "" "" "0" "" "" "g.136250530_136250575del" "" "pathogenic" "" "0000169701" "1" "90" "3" "135969402" "135969402" "subst" "0" "00006" "PCCB_000061" "g.135969402T>C" "" "{PMID:Desviat 2006:17051315}" "" "IVS1+2T>C" "" "Germline" "" "" "0" "" "" "g.136250560T>C" "" "pathogenic" "" "0000169702" "1" "90" "3" "136002697" "136002697" "subst" "4.06154E-6" "00006" "PCCB_000051" "g.136002697G>A" "" "{PMID:Desviat 2006:17051315}" "" "G188R" "" "Germline" "" "" "0" "" "" "g.136283855G>A" "" "pathogenic" "" "0000169703" "1" "90" "3" "136002697" "136002697" "subst" "4.06154E-6" "00006" "PCCB_000051" "g.136002697G>A" "" "{PMID:Desviat 2006:17051315}" "" "G188R" "" "Germline" "" "" "0" "" "" "g.136283855G>A" "" "pathogenic" "" "0000169704" "1" "90" "3" "136002697" "136002697" "subst" "4.06154E-6" "00006" "PCCB_000051" "g.136002697G>A" "" "{PMID:Desviat 2006:17051315}" "" "G188R" "" "Germline" "" "" "0" "" "" "g.136283855G>A" "" "pathogenic" "" "0000169705" "1" "90" "3" "136047701" "136047701" "subst" "0" "00006" "PCCB_000062" "g.136047701T>C" "" "{PMID:Desviat 2006:17051315}" "" "IVS14+2T>C" "" "Germline" "" "" "0" "" "" "g.136328859T>C" "" "pathogenic" "" "0000169706" "2" "90" "3" "136047701" "136047701" "subst" "0" "00006" "PCCB_000062" "g.136047701T>C" "" "{PMID:Desviat 2006:17051315}" "" "IVS14+2T>C" "" "Germline" "" "" "0" "" "" "g.136328859T>C" "" "pathogenic" "" "0000169707" "1" "90" "3" "136047701" "136047701" "subst" "0" "00006" "PCCB_000062" "g.136047701T>C" "" "{PMID:Desviat 2006:17051315}" "" "IVS14+2T>C" "" "Germline" "" "" "0" "" "" "g.136328859T>C" "" "pathogenic" "" "0000169708" "2" "90" "3" "136047701" "136047701" "subst" "0" "00006" "PCCB_000062" "g.136047701T>C" "" "{PMID:Desviat 2006:17051315}" "" "IVS14+2T>C" "" "Germline" "" "" "0" "" "" "g.136328859T>C" "" "pathogenic" "" "0000169709" "1" "90" "3" "135975430" "135975430" "subst" "2.84257E-5" "00006" "PCCB_000063" "g.135975430C>T" "" "{PMID:Brosch 2008:17415538}" "" "" "" "Germline" "" "" "0" "" "" "g.136256588C>T" "" "pathogenic" "" "0000169710" "1" "90" "3" "136003251" "136003251" "subst" "0" "00006" "PCCB_000064" "g.136003251A>G" "" "{PMID:Rincon 2007:17966092}" "" "IVS6+462A>G" "" "Germline" "" "" "0" "" "" "g.136284409A>G" "" "pathogenic" "" "0000169711" "1" "90" "3" "136048762" "136048762" "subst" "0" "00006" "PCCB_000065" "g.136048762T>A" "" "{PMID:Bustamante-Aragones 2008:18599334}" "" "" "" "Germline" "" "" "0" "" "" "g.136329920T>A" "" "pathogenic" "" "0000169712" "1" "90" "3" "136046051" "136046051" "subst" "0" "00006" "PCCB_000066" "g.136046051C>T" "" "{PMID:Hu 2008:19099776}" "" "" "" "Germline" "" "" "0" "" "" "g.136327209C>T" "" "pathogenic" "" "0000169713" "1" "90" "3" "135969384" "135969396" "delins" "0" "00006" "PCCB_000067" "g.135969384_135969396delinsC" "" "{PMID:Hu 2008:19099776}" "" "" "" "Germline" "" "" "0" "" "" "g.136250542_136250554delinsC" "" "pathogenic" "" "0000169714" "1" "90" "3" "135980848" "135980848" "subst" "0" "00006" "PCCB_000068" "g.135980848G>A" "" "{PMID:Hu 2008:19099776}" "" "G162R" "" "Germline" "" "" "0" "" "" "g.136262006G>A" "" "pathogenic" "" "0000169715" "1" "90" "3" "136002695" "136002696" "delins" "0" "00006" "PCCB_000069" "g.136002695_136002696delinsA" "" "{PMID:Hu 2008:19099776}" "" "560_561delCCinsA" "" "Germline" "" "" "0" "" "" "g.136283853_136283854delinsA" "" "pathogenic" "" "0000169716" "1" "90" "3" "136002695" "136002696" "delins" "0" "00006" "PCCB_000070" "g.136002695_136002696delinsT" "" "{PMID:Hu 2008:19099776}" "" "" "" "Germline" "" "" "0" "" "" "g.136283853_136283854delinsT" "" "pathogenic" "" "0000169717" "1" "90" "3" "136002736" "136002736" "subst" "0" "00006" "PCCB_000071" "g.136002736G>A" "" "{PMID:Hu 2008:19099776}" "" "" "" "Germline" "" "" "0" "" "" "g.136283894G>A" "" "pathogenic" "" "0000169718" "1" "90" "3" "136046027" "136046027" "subst" "2.84777E-5" "00006" "PCCB_000072" "g.136046027G>A" "" "{PMID:Lee 2009:19238581}" "" "" "" "Germline" "" "" "0" "" "" "g.136327185G>A" "" "pathogenic" "" "0000169719" "1" "90" "3" "136012708" "136012708" "subst" "4.06792E-6" "00006" "PCCB_000073" "g.136012708T>G" "" "{PMID:Lee 2009:19238581}" "" "" "" "Germline" "" "" "0" "" "" "g.136293866T>G" "" "pathogenic" "" "0000169720" "1" "90" "3" "136045680" "136045680" "subst" "4.06276E-6" "00006" "PCCB_000074" "g.136045680C>T" "" "{PMID:de Keyzer 2009:19342984}" "" "" "" "Germline" "" "" "0" "" "" "g.136326838C>T" "" "pathogenic" "" "0000169721" "1" "90" "3" "136016803" "136016803" "subst" "0" "00006" "PCCB_000075" "g.136016803A>G" "" "{PMID:de Keyzer 2009:19342984}" "" "" "" "Germline" "" "" "0" "" "" "g.136297961A>G" "" "pathogenic" "" "0000169722" "1" "90" "3" "136046026" "136046026" "subst" "2.44115E-5" "00006" "PCCB_000007" "g.136046026C>T" "" "{PMID:Perez 2010:20549364}" "" "R410W" "" "Germline" "" "" "0" "" "" "g.136327184C>T" "" "pathogenic" "" "0000169723" "1" "90" "3" "136046096" "136046096" "dup" "0" "00006" "PCCB_000033" "g.136046096dup" "" "{PMID:Perez 2010:20549364}" "" "1298insA" "" "Germline" "" "" "0" "" "" "g.136327254dup" "" "pathogenic" "" "0000169724" "1" "90" "3" "135980857" "135980857" "subst" "0" "00006" "PCCB_000011" "g.135980857C>T" "" "{PMID:Perez 2010:20549364}" "" "R165W" "" "Germline" "" "" "0" "" "" "g.136262015C>T" "" "pathogenic" "" "0000169725" "1" "90" "3" "135980858" "135980858" "subst" "0" "00006" "PCCB_000023" "g.135980858G>A" "" "{PMID:Perez 2010:20549364}" "" "R165Q" "" "Germline" "" "" "0" "" "" "g.136262016G>A" "" "pathogenic" "" "0000169726" "1" "90" "3" "135980866" "135980866" "subst" "0" "00006" "PCCB_000019" "g.135980866G>A" "" "{PMID:Perez 2010:20549364}" "" "E168K" "" "Germline" "" "" "0" "" "" "g.136262024G>A" "" "pathogenic" "" "0000169727" "1" "90" "3" "136003251" "136003251" "subst" "0" "00006" "PCCB_000064" "g.136003251A>G" "" "{PMID:Perez 2010:20549364}" "" "IVS6+462A>G" "" "Germline" "" "" "0" "" "" "g.136284409A>G" "" "pathogenic" "" "0000169728" "1" "90" "3" "136035806" "136035806" "dup" "0" "00006" "PCCB_000032" "g.136035806dup" "" "{PMID:Perez 2010:20549364}" "" "" "" "Germline" "" "" "0" "" "" "g.136316964dup" "" "pathogenic" "" "0000169729" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Perez 2010:20549364}" "" "1218del14ins12" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169730" "1" "90" "3" "136045681" "136045681" "subst" "0" "00006" "PCCB_000076" "g.136045681G>T" "" "{PMID:Kraus 2012:22033733}" "" "" "" "Germline" "" "" "0" "" "" "g.136326839G>T" "" "pathogenic" "" "0000169731" "1" "90" "3" "136045995" "136045995" "subst" "0" "00006" "PCCB_000053" "g.136045995A>G" "" "{PMID:Kraus 2012:22033733}" "" "IVS11-2A>G" "" "Germline" "" "" "0" "" "" "g.136327153A>G" "" "pathogenic" "" "0000169732" "1" "90" "3" "136046026" "136046026" "subst" "2.44115E-5" "00006" "PCCB_000007" "g.136046026C>T" "" "{PMID:Kraus 2012:22033733}" "" "R410W" "" "Germline" "" "" "0" "" "" "g.136327184C>T" "" "pathogenic" "" "0000169733" "1" "90" "3" "136046485" "136046485" "subst" "1.21905E-5" "00006" "PCCB_000077" "g.136046485G>A" "" "{PMID:Kraus 2012:22033733}" "" "G437S" "" "Germline" "" "" "0" "" "" "g.136327643G>A" "" "pathogenic" "" "0000169734" "1" "90" "3" "136046489" "136046489" "subst" "0" "00006" "PCCB_000078" "g.136046489C>T" "" "{PMID:Kraus 2012:22033733}" "" "" "" "Germline" "" "" "0" "" "" "g.136327647C>T" "" "pathogenic" "" "0000169735" "1" "90" "3" "136046527" "136046527" "dup" "0" "00006" "PCCB_000079" "g.136046527dup" "" "{PMID:Kraus 2012:22033733}" "" "1351dupA" "" "Germline" "" "" "0" "" "" "g.136327685dup" "" "pathogenic" "" "0000169736" "1" "90" "3" "136046528" "136046528" "subst" "0.000455011" "00006" "PCCB_000080" "g.136046528C>T" "" "{PMID:Kraus 2012:22033733}" "" "" "" "Germline" "" "" "0" "" "" "g.136327686C>T" "" "pathogenic" "" "0000169737" "1" "90" "3" "136048782" "136048782" "subst" "4.06501E-6" "00006" "PCCB_000026" "g.136048782C>T" "" "{PMID:Kraus 2012:22033733}" "" "R512C" "" "Germline" "" "" "0" "" "" "g.136329940C>T" "" "pathogenic" "" "0000169738" "1" "90" "3" "135969372" "135969417" "del" "0" "00006" "PCCB_000060" "g.135969372_135969417del" "" "{PMID:Kraus 2012:22033733}" "" "154-183+17del46" "" "Germline" "" "" "0" "" "" "g.136250530_136250575del" "" "pathogenic" "" "0000169739" "1" "90" "3" "136048854" "136048854" "subst" "1.62558E-5" "00006" "PCCB_000014" "g.136048854A>G" "" "{PMID:Kraus 2012:22033733}" "" "N536D" "" "Germline" "" "" "0" "" "" "g.136330012A>G" "" "pathogenic" "" "0000169740" "1" "90" "3" "135969403" "135969403" "subst" "4.33249E-6" "00006" "PCCB_000030" "g.135969403G>C" "" "{PMID:Kraus 2012:22033733}" "" "IVS1+3G>C" "" "Germline" "" "" "0" "" "" "g.136250561G>C" "" "pathogenic" "" "0000169741" "1" "90" "3" "135975430" "135975430" "subst" "2.84257E-5" "00006" "PCCB_000063" "g.135975430C>T" "" "{PMID:Kraus 2012:22033733}" "" "R113X" "" "Germline" "" "" "0" "" "" "g.136256588C>T" "" "pathogenic" "" "0000169742" "1" "90" "3" "135979380" "135979383" "del" "0" "00006" "PCCB_000013" "g.135979380_135979383del" "" "{PMID:Kraus 2012:22033733}" "" "IVS4+3del4" "" "Germline" "" "" "0" "" "" "g.136260538_136260541del" "" "pathogenic" "" "0000169743" "1" "50" "3" "135980673" "135980673" "subst" "0" "00006" "PCCB_000081" "g.135980673C>T" "" "{PMID:Kraus 2012:22033733}" "" "" "" "Germline" "" "" "0" "" "" "g.136261831C>T" "" "VUS" "" "0000169744" "1" "90" "3" "135980847" "135980847" "dup" "0" "00006" "PCCB_000082" "g.135980847dup" "" "{PMID:Kraus 2012:22033733}" "" "" "" "Germline" "" "" "0" "" "" "g.136262005dup" "" "pathogenic" "" "0000169745" "1" "90" "3" "135969167" "135975465" "del" "0" "00006" "PCCB_000083" "g.135969167_135975465del" "" "{PMID:Kraus 2012:22033733}" "" "" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.136250325_136256623del" "" "pathogenic" "" "0000169746" "1" "90" "3" "135969078" "135969078" "subst" "0" "00006" "PCCB_000084" "g.135969078C>G" "" "{PMID:Kraus 2012:22033733}" "" "10140C>G" "" "Germline" "" "" "0" "" "" "g.136250236C>G" "" "pathogenic" "" "0000169747" "1" "90" "3" "136002697" "136002697" "subst" "4.06154E-6" "00006" "PCCB_000051" "g.136002697G>A" "" "{PMID:Kraus 2012:22033733}" "" "G188R" "" "Germline" "" "" "0" "" "" "g.136283855G>A" "" "pathogenic" "" "0000169748" "1" "90" "3" "136002731" "136002731" "subst" "0" "00006" "PCCB_000085" "g.136002731C>G" "" "{PMID:Kraus 2012:22033733}" "" "" "" "Germline" "" "" "0" "" "" "g.136283889C>G" "" "pathogenic" "" "0000169749" "1" "90" "3" "136002748" "136002748" "subst" "0" "00006" "PCCB_000086" "g.136002748G>T" "" "{PMID:Kraus 2012:22033733}" "" "" "" "Germline" "" "" "0" "" "" "g.136283906G>T" "" "pathogenic" "" "0000169750" "1" "90" "3" "136002755" "136002755" "subst" "0" "00006" "PCCB_000087" "g.136002755C>T" "" "{PMID:Kraus 2012:22033733}" "" "" "" "Germline" "" "" "0" "" "" "g.136283913C>T" "" "pathogenic" "" "0000169751" "1" "90" "3" "136002809" "136002809" "subst" "0.160088" "00006" "PCCB_000088" "g.136002809T>C" "" "{PMID:Kraus 2012:22033733}" "" "" "" "Germline" "" "" "0" "" "" "g.136283967T>C" "" "pathogenic" "" "0000169752" "1" "90" "3" "136012626" "136012626" "subst" "4.47114E-5" "00006" "PCCB_000015" "g.136012626C>T" "" "{PMID:Kraus 2012:22033733}" "" "P228L" "" "Germline" "" "" "0" "" "" "g.136293784C>T" "" "pathogenic" "" "0000169753" "1" "90" "3" "136016792" "136016792" "del" "0" "00006" "PCCB_000054" "g.136016792del" "" "{PMID:Kraus 2012:22033733}" "" "" "" "Germline" "" "" "0" "" "" "g.136297950del" "" "pathogenic" "" "0000169754" "1" "90" "3" "135969293" "135969293" "dup" "0" "00006" "PCCB_000089" "g.135969293dup" "" "{PMID:Kraus 2012:22033733}" "" "R26fs" "" "Germline" "" "" "0" "" "" "g.136250451dup" "" "pathogenic" "" "0000169755" "1" "90" "3" "136016833" "136016833" "subst" "0" "00006" "PCCB_000090" "g.136016833T>G" "" "{PMID:Kraus 2012:22033733}" "" "" "" "Germline" "" "" "0" "" "" "g.136297991T>G" "" "pathogenic" "" "0000169756" "1" "90" "3" "136016892" "136016892" "subst" "0.000203061" "00006" "PCCB_000091" "g.136016892G>A" "" "{PMID:Kraus 2012:22033733}" "" "" "" "Germline" "" "" "0" "" "" "g.136298050G>A" "" "pathogenic" "" "0000169757" "1" "90" "3" "136016902" "136016902" "subst" "0.00134019" "00006" "PCCB_000092" "g.136016902G>A" "" "{PMID:Kraus 2012:22033733}" "" "" "" "Germline" "" "" "0" "" "" "g.136298060G>A" "" "pathogenic" "" "0000169758" "1" "90" "3" "136019870" "136019870" "subst" "0" "00006" "PCCB_000093" "g.136019870A>G" "" "{PMID:Kraus 2012:22033733}" "" "" "" "Germline" "" "" "0" "" "" "g.136301028A>G" "" "pathogenic" "" "0000169759" "1" "90" "3" "136019882" "136019882" "subst" "0" "00006" "PCCB_000094" "g.136019882G>T" "" "{PMID:Kraus 2012:22033733}" "" "" "" "Germline" "" "" "0" "" "" "g.136301040G>T" "" "pathogenic" "" "0000169760" "1" "90" "3" "136020058" "136020058" "subst" "0" "00006" "PCCB_000095" "g.136020058G>A" "" "{PMID:Kraus 2012:22033733}" "" "" "" "Germline" "" "" "0" "" "" "g.136301216G>A" "" "pathogenic" "" "0000169761" "1" "50" "3" "136035737" "136035737" "subst" "0.295148" "00006" "PCCB_000096" "g.136035737A>G" "" "{PMID:Kraus 2012:22033733}" "" "" "" "Germline" "" "" "0" "" "" "g.136316895A>G" "" "VUS" "" "0000169762" "1" "90" "3" "136035806" "136035806" "dup" "0" "00006" "PCCB_000032" "g.136035806dup" "" "{PMID:Kraus 2012:22033733}" "" "" "" "Germline" "" "" "0" "" "" "g.136316964dup" "" "pathogenic" "" "0000169763" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Kraus 2012:22033733}" "" "1218del14ins12" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169764" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Perez-Cerda 1994:07707688}" "" "1218del14ins12" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000169765" "1" "90" "3" "136046100" "136046107" "del" "0" "00006" "PCCB_000008" "g.136046100_136046107del" "" "{PMID:Ohura 1993:8225321}" "" "IVS12+3del8" "" "Germline" "" "" "0" "" "" "g.136327258_136327265del" "" "pathogenic" "" "0000169766" "1" "90" "3" "136045727" "136045727" "dup" "0" "00006" "PCCB_000018" "g.136045727dup" "" "{PMID:Hoenicka 1998:9425096}" "" "1170insT" "" "Germline" "" "" "0" "" "" "g.136326885dup" "" "pathogenic" "" "0000169767" "1" "90" "3" "136046002" "136046002" "del" "0" "00006" "PCCB_000055" "g.136046002del" "" "Abs Rodriguez-Pombo 2000, JIMD" "" "" "" "Germline" "" "" "0" "" "" "g.136327160del" "" "pathogenic" "" "0000169768" "1" "90" "3" "135975428" "135975428" "subst" "0" "00006" "PCCB_000050" "g.135975428G>A" "" "Abs Rodriguez-Pombo 2000, JIMD" "" "" "" "Germline" "" "" "0" "" "" "g.136256586G>A" "" "pathogenic" "" "0000169769" "1" "90" "3" "136016792" "136016792" "del" "0" "00006" "PCCB_000054" "g.136016792del" "" "Abs Rodriguez-Pombo 2000, JIMD" "" "" "" "Germline" "" "" "0" "" "" "g.136297950del" "" "pathogenic" "" "0000169770" "1" "90" "3" "135980896" "135980896" "subst" "0" "00006" "PCCB_000097" "g.135980896G>C" "" "Heptinstall 1998 JIMD 21 S2 p79" "" "D178H" "" "Germline" "" "" "0" "" "" "g.136262054G>C" "" "pathogenic" "" "0000169771" "1" "90" "3" "136048788" "136048788" "subst" "4.0653E-6" "00006" "PCCB_000004" "g.136048788C>T" "" "Heptinstall 1998 JIMD 21 S2 p79" "" "R514X" "" "Germline" "" "" "0" "" "" "g.136329946C>T" "" "pathogenic" "" "0000169772" "1" "90" "3" "135980896" "135980896" "subst" "0" "00006" "PCCB_000097" "g.135980896G>C" "" "LSDB Heptinstall 1998" "" "" "" "Germline" "" "" "0" "" "" "g.136262054G>C" "" "pathogenic" "" "0000169773" "1" "90" "3" "136048788" "136048788" "subst" "4.0653E-6" "00006" "PCCB_000004" "g.136048788C>T" "" "LSDB Heptinstall 1999" "" "" "" "Germline" "" "" "0" "" "" "g.136329946C>T" "" "pathogenic" "" "0000169774" "1" "90" "3" "136048854" "136048854" "subst" "1.62558E-5" "00006" "PCCB_000014" "g.136048854A>G" "" "Oglesbee 2006 JIMD 29 S1 p20" "" "N536D" "" "Germline" "" "" "0" "" "" "g.136330012A>G" "" "pathogenic" "" "0000169775" "1" "90" "3" "135975430" "135975430" "subst" "2.84257E-5" "00006" "PCCB_000063" "g.135975430C>T" "" "Ozgul 2010 JIMD 33 S1 p45" "" "R113X" "" "Germline" "" "" "0" "" "" "g.136256588C>T" "" "pathogenic" "" "0000169776" "1" "90" "3" "136002739" "136002739" "subst" "0" "00006" "PCCB_000098" "g.136002739G>A" "" "Ozgul 2010 JIMD 33 S1 p45" "" "G202R" "" "Germline" "" "" "0" "" "" "g.136283897G>A" "" "pathogenic" "" "0000169777" "1" "90" "3" "136046485" "136046485" "subst" "1.21905E-5" "00006" "PCCB_000077" "g.136046485G>A" "" "Perez 2005 JIMD 28 S1 p80" "" "G437S" "" "Germline" "" "" "0" "" "" "g.136327643G>A" "" "pathogenic" "" "0000169778" "1" "90" "3" "136047701" "136047701" "subst" "0" "00006" "PCCB_000062" "g.136047701T>C" "" "Perez 2005 JIMD 28 S1 p80" "" "IVS14+2T>C" "" "Germline" "" "" "0" "" "" "g.136328859T>C" "" "pathogenic" "" "0000169779" "1" "90" "3" "135969402" "135969402" "subst" "0" "00006" "PCCB_000061" "g.135969402T>C" "" "Perez 2005 JIMD 28 S1 p80" "" "IVS1+2T>C" "" "Germline" "" "" "0" "" "" "g.136250560T>C" "" "pathogenic" "" "0000169780" "1" "90" "3" "136002728" "136002728" "subst" "4.06124E-6" "00006" "PCCB_000021" "g.136002728G>A" "" "Rodriguez-Pombo et al" "" "G198D" "" "Germline" "" "" "0" "" "" "g.136283886G>A" "" "pathogenic" "" "0000169781" "1" "90" "3" "136046002" "136046002" "del" "0" "00006" "PCCB_000055" "g.136046002del" "" "Rodriguez-Pombo 2000 JIMD 23 p92" "" "1204delG" "" "Germline" "" "" "0" "" "" "g.136327160del" "" "pathogenic" "" "0000169782" "1" "90" "3" "135979380" "135979383" "del" "0" "00006" "PCCB_000013" "g.135979380_135979383del" "" "Rodriguez-Pombo 2000 JIMD 23 p92" "" "IVS4+3del4" "" "Germline" "" "" "0" "" "" "g.136260538_136260541del" "" "pathogenic" "" "0000169783" "1" "90" "3" "136016792" "136016792" "del" "0" "00006" "PCCB_000054" "g.136016792del" "" "Rodriguez-Pombo 2000 JIMD 23 p92" "" "IVS7-2delA" "" "Germline" "" "" "0" "" "" "g.136297950del" "" "pathogenic" "" "0000169784" "1" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "Rodriguez-Pombo 2000 JIMD 23 p92" "" "1218del14ins12" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0000246183" "0" "50" "3" "136045699" "136045699" "subst" "1.21866E-5" "02330" "PCCB_000109" "g.136045699A>G" "" "" "" "PCCB(NM_001178014.2):c.1205A>G (p.D402G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136326857A>G" "" "VUS" "" "0000249745" "0" "50" "3" "135980794" "135980794" "subst" "1.90954E-5" "02325" "PCCB_000106" "g.135980794A>G" "" "" "" "PCCB(NM_001178014.2):c.490A>G (p.I164V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136261952A>G" "" "VUS" "" "0000293439" "0" "70" "3" "136035883" "136035883" "subst" "0" "02330" "PCCB_000108" "g.136035883G>A" "" "" "" "PCCB(NM_001178014.2):c.1127G>A (p.G376D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136317041G>A" "" "likely pathogenic" "" "0000293440" "0" "30" "3" "136047691" "136047691" "subst" "0.00204052" "02330" "PCCB_000020" "g.136047691C>T" "" "" "" "PCCB(NM_000532.5):c.1490C>T (p.A497V), PCCB(NM_001178014.1):c.1550C>T (p.A517V), PCCB(NM_001178014.2):c.1550C>T (p.A517V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136328849C>T" "" "likely benign" "" "0000293441" "0" "10" "3" "136002809" "136002809" "subst" "0.160088" "02330" "PCCB_000088" "g.136002809T>C" "" "" "" "PCCB(NM_001178014.2):c.714+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136283967T>C" "" "benign" "" "0000296782" "0" "50" "3" "136016845" "136016845" "subst" "0.00196961" "02325" "PCCB_000107" "g.136016845G>A" "" "" "" "PCCB(NM_000532.4):c.815G>A (p.(Arg272Gln)), PCCB(NM_000532.5):c.815G>A (p.R272Q), PCCB(NM_001178014.1):c.875G>A (p.R292Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136298003G>A" "" "VUS" "" "0000305070" "0" "90" "3" "136046017" "136046017" "subst" "2.44123E-5" "01943" "PCCB_000111" "g.136046017G>A" "" "" "" "PCCB(NM_001178014.1):c.1279G>A (p.G427S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136327175G>A" "" "pathogenic" "" "0000305071" "0" "90" "3" "136046021" "136046021" "del" "2.44119E-5" "01943" "PCCB_000112" "g.136046021del" "" "" "" "PCCB(NM_001178014.1):c.1283delT (p.I428Tfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136327179del" "" "pathogenic" "" "0000305072" "0" "90" "3" "136046024" "136046026" "del" "0" "01943" "PCCB_000113" "g.136046024_136046026del" "" "" "" "PCCB(NM_001178014.1):c.1286_1288delTCC (p.I429del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136327182_136327184del" "" "pathogenic" "" "0000305073" "0" "90" "3" "136046029" "136046029" "subst" "2.8477E-5" "01943" "PCCB_000114" "g.136046029C>A" "" "" "" "PCCB(NM_001178014.1):c.1291C>A (p.H431N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136327187C>A" "" "pathogenic" "" "0000305074" "0" "50" "3" "135974783" "135974783" "subst" "0" "01943" "PCCB_000105" "g.135974783G>A" "" "" "" "PCCB(NM_001178014.1):c.269G>A (p.C90Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136255941G>A" "" "VUS" "" "0000329635" "0" "50" "3" "135969375" "135969375" "subst" "0" "01804" "PCCB_000104" "g.135969375G>A" "" "" "" "PCCB(NM_000532.4):c.158G>A (p.(Arg53His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136250533G>A" "" "VUS" "" "0000461252" "0" "90" "3" "135969372" "135969417" "del" "0" "01807" "PCCB_000060" "g.135969372_135969417del" "" "" "" "135969366_135969411del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.136250530_136250575del" "" "pathogenic" "" "0000518040" "0" "30" "3" "135969266" "135969266" "subst" "0.00154264" "01943" "PCCB_000036" "g.135969266C>A" "" "" "" "PCCB(NM_001178014.1):c.49C>A (p.L17M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136250424C>A" "" "likely benign" "" "0000518041" "0" "30" "3" "135969266" "135969266" "subst" "0.00154264" "02326" "PCCB_000036" "g.135969266C>A" "" "" "" "PCCB(NM_001178014.1):c.49C>A (p.L17M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136250424C>A" "" "likely benign" "" "0000518042" "0" "30" "3" "135969382" "135969382" "subst" "0" "01943" "STAG1_000008" "g.135969382T>C" "" "" "" "PCCB(NM_001178014.1):c.165T>C (p.I55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136250540T>C" "" "likely benign" "" "0000518043" "0" "30" "3" "135969417" "135969417" "subst" "3.14186E-5" "02330" "STAG1_000009" "g.135969417C>T" "" "" "" "PCCB(NM_001178014.2):c.183+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136250575C>T" "" "likely benign" "" "0000518044" "0" "50" "3" "135974776" "135974776" "subst" "0" "01804" "STAG1_000010" "g.135974776C>A" "" "" "" "PCCB(NM_000532.4):c.262C>A (p.(His88Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136255934C>A" "" "VUS" "" "0000518045" "0" "30" "3" "135974825" "135974825" "subst" "0.000203032" "02326" "STAG1_000011" "g.135974825T>A" "" "" "" "PCCB(NM_001178014.1):c.303+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136255983T>A" "" "likely benign" "" "0000518046" "0" "10" "3" "135978029" "135978029" "subst" "0.00255444" "02330" "STAG1_000012" "g.135978029C>T" "" "" "" "PCCB(NM_001178014.2):c.384C>T (p.G128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136259187C>T" "" "benign" "" "0000518047" "0" "90" "3" "135980857" "135980857" "subst" "0" "01804" "PCCB_000011" "g.135980857C>T" "" "" "" "PCCB(NM_000532.4):c.493C>T (p.(Arg165Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136262015C>T" "" "pathogenic" "" "0000518048" "0" "10" "3" "136002681" "136002681" "subst" "0.00122266" "02330" "STAG1_000013" "g.136002681G>A" "" "" "" "PCCB(NM_000532.5):c.546G>A (p.R182=), PCCB(NM_001178014.2):c.606G>A (p.R202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136283839G>A" "" "benign" "" "0000518049" "0" "50" "3" "136016845" "136016845" "subst" "0.00196961" "01943" "PCCB_000107" "g.136016845G>A" "" "" "" "PCCB(NM_000532.4):c.815G>A (p.(Arg272Gln)), PCCB(NM_000532.5):c.815G>A (p.R272Q), PCCB(NM_001178014.1):c.875G>A (p.R292Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136298003G>A" "" "VUS" "" "0000518050" "0" "30" "3" "136016845" "136016845" "subst" "0.00196961" "01804" "PCCB_000107" "g.136016845G>A" "" "" "" "PCCB(NM_000532.4):c.815G>A (p.(Arg272Gln)), PCCB(NM_000532.5):c.815G>A (p.R272Q), PCCB(NM_001178014.1):c.875G>A (p.R292Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136298003G>A" "" "likely benign" "" "0000518051" "0" "50" "3" "136019898" "136019898" "subst" "0.000613268" "01943" "STAG1_000014" "g.136019898C>T" "" "" "" "PCCB(NM_000532.5):c.911C>T (p.(Thr304Ile)), PCCB(NM_001178014.1):c.971C>T (p.T324I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136301056C>T" "" "VUS" "" "0000518052" "0" "90" "3" "136046015" "136046016" "ins" "0" "01943" "STAG1_000015" "g.136046015_136046016insTA" "" "" "" "PCCB(NM_001178014.1):c.1277_1278insTA (p.G427Rfs*37)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136327173_136327174insTA" "" "pathogenic" "" "0000518053" "0" "10" "3" "136046106" "136046106" "subst" "0.000622969" "02330" "STAG1_000016" "g.136046106C>A" "" "" "" "PCCB(NM_001178014.2):c.1359+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136327264C>A" "" "benign" "" "0000518055" "0" "10" "3" "136047686" "136047686" "subst" "8.5361E-5" "02330" "STAG1_000018" "g.136047686T>G" "" "" "" "PCCB(NM_001178014.2):c.1545T>G (p.P515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136328844T>G" "" "benign" "" "0000518056" "0" "30" "3" "136047691" "136047691" "subst" "0.00204052" "01943" "PCCB_000020" "g.136047691C>T" "" "" "" "PCCB(NM_000532.5):c.1490C>T (p.A497V), PCCB(NM_001178014.1):c.1550C>T (p.A517V), PCCB(NM_001178014.2):c.1550C>T (p.A517V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136328849C>T" "" "likely benign" "" "0000518057" "0" "30" "3" "136047691" "136047691" "subst" "0.00204052" "02326" "PCCB_000020" "g.136047691C>T" "" "" "" "PCCB(NM_000532.5):c.1490C>T (p.A497V), PCCB(NM_001178014.1):c.1550C>T (p.A517V), PCCB(NM_001178014.2):c.1550C>T (p.A517V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136328849C>T" "" "likely benign" "" "0000608339" "0" "50" "3" "135969363" "135969363" "subst" "0" "01804" "STAG1_000022" "g.135969363G>C" "" "" "" "PCCB(NM_000532.4):c.146G>C (p.(Gly49Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136250521G>C" "" "VUS" "" "0000608340" "0" "70" "3" "135969390" "135969390" "subst" "4.27131E-6" "02327" "STAG1_000023" "g.135969390A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136250548A>C" "" "likely pathogenic" "" "0000608341" "0" "50" "3" "135974764" "135974764" "subst" "0.000158361" "02327" "STAG1_000024" "g.135974764A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136255922A>G" "" "VUS" "" "0000608342" "0" "50" "3" "136002730" "136002730" "subst" "0.00103968" "01943" "STAG1_000025" "g.136002730C>T" "" "" "" "PCCB(NM_000532.5):c.595C>T (p.(Pro199Ser)), PCCB(NM_001178014.1):c.655C>T (p.P219S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136283888C>T" "" "VUS" "" "0000608343" "0" "70" "3" "136002746" "136002746" "subst" "2.8428E-5" "02327" "PCCB_000102" "g.136002746C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136283904C>T" "" "likely pathogenic" "" "0000608344" "0" "70" "3" "136016853" "136016855" "del" "0" "02327" "PCCB_000103" "g.136016853_136016855del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136298011_136298013del" "" "likely pathogenic" "" "0000608345" "0" "70" "3" "136016902" "136016902" "subst" "0.00134019" "02330" "PCCB_000092" "g.136016902G>A" "" "" "" "PCCB(NM_000532.4):c.872G>A (p.C291Y), PCCB(NM_001178014.1):c.932G>A (p.C311Y), PCCB(NM_001178014.2):c.932G>A (p.C311Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136298060G>A" "" "likely pathogenic" "" "0000651081" "1" "50" "3" "136016845" "136016845" "subst" "0.00196961" "03575" "PCCB_000107" "g.136016845G>A" "4/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; {DB:CLININrs150555106}" "Germline" "" "rs150555106" "0" "" "" "g.136298003G>A" "" "VUS" "" "0000653349" "11" "70" "3" "135975452" "135975453" "del" "0" "03619" "PCCB_000115" "g.135975452_135975453del" "" "" "" "359_360delAT" "" "Germline" "" "" "0" "" "" "g.136256610_136256611del" "" "pathogenic (recessive)" "" "0000653350" "21" "70" "3" "136046575" "136046575" "subst" "0" "03619" "PCCB_000116" "g.136046575G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136327733G>A" "" "pathogenic (recessive)" "" "0000654811" "0" "90" "3" "136002719" "136002719" "del" "0" "01943" "STAG1_000027" "g.136002719del" "" "" "" "PCCB(NM_001178014.1):c.644delT (p.L215Rfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136283877del" "" "pathogenic" "" "0000654812" "0" "30" "3" "136047711" "136047712" "del" "0" "01943" "STAG1_000028" "g.136047711_136047712del" "" "" "" "PCCB(NM_001178014.1):c.1558+12_1558+13delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136328869_136328870del" "" "likely benign" "" "0000676833" "0" "70" "3" "135980866" "135980866" "subst" "0" "02325" "PCCB_000019" "g.135980866G>A" "" "" "" "PCCB(NM_001178014.2):c.562G>A (p.E188K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000676834" "0" "30" "3" "136016845" "136016845" "subst" "0.00196961" "02327" "PCCB_000107" "g.136016845G>A" "" "" "" "PCCB(NM_000532.4):c.815G>A (p.(Arg272Gln)), PCCB(NM_000532.5):c.815G>A (p.R272Q), PCCB(NM_001178014.1):c.875G>A (p.R292Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676835" "0" "70" "3" "136016902" "136016902" "subst" "0.00134019" "02327" "PCCB_000092" "g.136016902G>A" "" "" "" "PCCB(NM_000532.4):c.872G>A (p.C291Y), PCCB(NM_001178014.1):c.932G>A (p.C311Y), PCCB(NM_001178014.2):c.932G>A (p.C311Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000676836" "0" "70" "3" "136048756" "136048756" "subst" "4.06643E-6" "02325" "STAG1_000030" "g.136048756A>G" "" "" "" "PCCB(NM_000532.5):c.1508A>G (p.D503G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000688951" "0" "50" "3" "135975431" "135975431" "subst" "0.000337042" "02326" "STAG1_000032" "g.135975431G>A" "" "" "" "PCCB(NM_001178014.1):c.338G>A (p.R113Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688952" "0" "30" "3" "135978092" "135978092" "subst" "0.000291764" "02326" "STAG1_000033" "g.135978092T>C" "" "" "" "PCCB(NM_001178014.1):c.432+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688953" "0" "10" "3" "136002809" "136002809" "subst" "0.160088" "02327" "PCCB_000088" "g.136002809T>C" "" "" "" "PCCB(NM_001178014.2):c.714+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688954" "0" "50" "3" "136016902" "136016902" "subst" "0.00134019" "02326" "PCCB_000092" "g.136016902G>A" "" "" "" "PCCB(NM_000532.4):c.872G>A (p.C291Y), PCCB(NM_001178014.1):c.932G>A (p.C311Y), PCCB(NM_001178014.2):c.932G>A (p.C311Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688955" "0" "50" "3" "136016902" "136016902" "subst" "0.00134019" "01943" "PCCB_000092" "g.136016902G>A" "" "" "" "PCCB(NM_000532.4):c.872G>A (p.C291Y), PCCB(NM_001178014.1):c.932G>A (p.C311Y), PCCB(NM_001178014.2):c.932G>A (p.C311Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688956" "0" "50" "3" "136046086" "136046086" "subst" "0" "02326" "PCCB_000041" "g.136046086A>C" "" "" "" "PCCB(NM_001178014.1):c.1348A>C (p.I450L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688957" "0" "30" "3" "136047691" "136047691" "subst" "0.00204052" "02325" "PCCB_000020" "g.136047691C>T" "" "" "" "PCCB(NM_000532.5):c.1490C>T (p.A497V), PCCB(NM_001178014.1):c.1550C>T (p.A517V), PCCB(NM_001178014.2):c.1550C>T (p.A517V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719211" "0" "50" "3" "135975431" "135975431" "subst" "0.000337042" "02329" "STAG1_000032" "g.135975431G>A" "" "" "" "PCCB(NM_001178014.1):c.338G>A (p.R113Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719212" "0" "50" "3" "136002776" "136002776" "subst" "2.84331E-5" "02325" "STAG1_000034" "g.136002776C>T" "" "" "" "PCCB(NM_000532.5):c.641C>T (p.T214M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719213" "0" "50" "3" "136060343" "136060343" "subst" "0" "02329" "STAG1_000019" "g.136060343T>C" "" "" "" "STAG1(NM_005862.3):c.3497A>G (p.N1166S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801013" "0" "30" "3" "135969299" "135969299" "subst" "0.000233352" "02326" "STAG1_000040" "g.135969299C>G" "" "" "" "PCCB(NM_000532.5):c.82C>G (p.L28V), PCCB(NM_001178014.1):c.82C>G (p.L28V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801014" "0" "30" "3" "136016912" "136016912" "subst" "0.000942247" "01943" "STAG1_000041" "g.136016912C>T" "" "" "" "PCCB(NM_000532.5):c.882C>T (p.P294=), PCCB(NM_001178014.1):c.942C>T (p.P314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801015" "0" "50" "3" "136035820" "136035820" "subst" "0" "02325" "STAG1_000042" "g.136035820A>T" "" "" "" "PCCB(NM_000532.5):c.1004A>T (p.N335I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801016" "0" "50" "3" "136046014" "136046014" "subst" "1.62713E-5" "01943" "STAG1_000043" "g.136046014G>A" "" "" "" "PCCB(NM_001178014.1):c.1276G>A (p.G426R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801017" "0" "30" "3" "136047595" "136047595" "subst" "8.1367E-6" "01943" "STAG1_000044" "g.136047595C>T" "" "" "" "PCCB(NM_001178014.1):c.1459-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850145" "0" "50" "3" "136012689" "136012689" "subst" "1.2198E-5" "01943" "STAG1_000047" "g.136012689C>T" "" "" "" "PCCB(NM_001178014.1):c.806C>T (p.T269I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858812" "0" "30" "3" "135969299" "135969299" "subst" "0.000233352" "01943" "STAG1_000040" "g.135969299C>G" "" "" "" "PCCB(NM_000532.5):c.82C>G (p.L28V), PCCB(NM_001178014.1):c.82C>G (p.L28V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858813" "0" "50" "3" "135978028" "135978028" "subst" "0" "01943" "STAG1_000046" "g.135978028G>T" "" "" "" "PCCB(NM_001178014.1):c.383G>T (p.G128V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885568" "0" "30" "3" "136002681" "136002681" "subst" "0.00122266" "02326" "STAG1_000013" "g.136002681G>A" "" "" "" "PCCB(NM_000532.5):c.546G>A (p.R182=), PCCB(NM_001178014.2):c.606G>A (p.R202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000918625" "0" "70" "3" "136047618" "136047618" "subst" "0" "01602" "PCCB_000117" "g.136047618T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000918947" "0" "70" "3" "135975425" "135975425" "subst" "0" "01602" "PCCB_000118" "g.135975425G>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000923844" "0" "50" "3" "136045691" "136045691" "subst" "0" "02326" "STAG1_000055" "g.136045691A>C" "" "" "" "PCCB(NM_000532.5):c.1137A>C (p.R379S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928717" "0" "30" "3" "136016892" "136016892" "subst" "0.000203061" "02326" "PCCB_000091" "g.136016892G>A" "" "" "" "PCCB(NM_000532.5):c.862G>A (p.V288I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948038" "0" "30" "3" "135979384" "135979384" "subst" "0.000591031" "02327" "STAG1_000077" "g.135979384G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948039" "0" "30" "3" "136002674" "136002674" "subst" "0.000162529" "02326" "STAG1_000078" "g.136002674G>C" "" "" "" "PCCB(NM_000532.5):c.544-5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948040" "0" "30" "3" "136016912" "136016912" "subst" "0.000942247" "02326" "STAG1_000041" "g.136016912C>T" "" "" "" "PCCB(NM_000532.5):c.882C>T (p.P294=), PCCB(NM_001178014.1):c.942C>T (p.P314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975594" "0" "50" "3" "135969325" "135969325" "subst" "0" "01804" "STAG1_000081" "g.135969325C>A" "" "" "" "PCCB(NM_000532.5):c.108C>A (p.(Asn36Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975595" "0" "50" "3" "135974807" "135974807" "subst" "0" "01804" "STAG1_000082" "g.135974807A>G" "" "" "" "PCCB(NM_000532.5):c.293A>G (p.(Asp98Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975596" "0" "50" "3" "136002781" "136002781" "subst" "4.0621E-6" "01804" "STAG1_000083" "g.136002781A>G" "" "" "" "PCCB(NM_000532.5):c.646A>G (p.(Met216Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975597" "0" "50" "3" "136019898" "136019898" "subst" "0.000613268" "01804" "STAG1_000014" "g.136019898C>T" "" "" "" "PCCB(NM_000532.5):c.911C>T (p.(Thr304Ile)), PCCB(NM_001178014.1):c.971C>T (p.T324I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975598" "0" "50" "3" "136035822" "136035822" "subst" "0" "01804" "STAG1_000084" "g.136035822T>C" "" "" "" "PCCB(NM_000532.5):c.1006T>C (p.(Tyr336His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007310" "3" "90" "3" "136046016" "136046029" "delins" "0" "00006" "PCCB_000006" "g.136046016_136046029delinsTAGAGCACAGGA" "" "{PMID:Navarrete 2019:30626930}" "" "c.1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA" "" "Germline" "" "" "0" "" "" "g.136327174_136327187delinsTAGAGCACAGGA" "" "pathogenic" "" "0001013819" "0" "70" "3" "136046081" "136046081" "subst" "2.44125E-5" "02327" "PCCB_000009" "g.136046081C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001030166" "0" "90" "3" "136046564" "136046564" "subst" "0" "04221" "PCCB_000119" "g.136046564T>G" "1/28 patients" "" "" "" "" "Germline" "yes" "" "" "" "" "g.136327722T>G" "" "likely pathogenic (recessive)" "ACMG" "0001030167" "0" "70" "3" "136046485" "136046485" "subst" "1.21905E-5" "04221" "PCCB_000077" "g.136046485G>A" "7/28 patients" "" "" "" "" "Germline" "yes" "rs1349202366" "0" "" "" "g.136327643G>A" "{CV:836321}" "pathogenic (recessive)" "ACMG" "0001033707" "0" "50" "3" "136002730" "136002730" "subst" "0.00103968" "01804" "STAG1_000025" "g.136002730C>T" "" "" "" "PCCB(NM_000532.5):c.595C>T (p.(Pro199Ser)), PCCB(NM_001178014.1):c.655C>T (p.P219S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033708" "0" "50" "3" "136002748" "136002748" "subst" "6.09226E-5" "01804" "STAG1_000102" "g.136002748G>A" "" "" "" "PCCB(NM_000532.5):c.613G>A (p.(Val205Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033709" "0" "50" "3" "136046554" "136046554" "subst" "2.43778E-5" "01804" "STAG1_000103" "g.136046554A>G" "" "" "" "PCCB(NM_000532.5):c.1378A>G (p.(Ile460Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033710" "0" "50" "3" "136060314" "136060314" "subst" "4.06481E-6" "01804" "STAG1_000104" "g.136060314T>C" "" "" "" "STAG1(NM_005862.3):c.3526A>G (p.(Met1176Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051520" "0" "50" "3" "136019928" "136019928" "subst" "0.000125901" "01804" "STAG1_000112" "g.136019928A>G" "" "" "" "PCCB(NM_000532.5):c.941A>G (p.(Tyr314Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051521" "0" "50" "3" "136046528" "136046528" "subst" "0.000455011" "01804" "PCCB_000080" "g.136046528C>T" "" "" "" "PCCB(NM_000532.5):c.1352C>T (p.(Thr451Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 PCCB ## Count = 377 "{{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}}" "0000046775" "00015734" "30" "654" "370" "654" "370" "c.654+370delinsGATGTTTCA" "r.(=)" "p.(=)" "6i" "0000169465" "00015734" "70" "611" "0" "611" "0" "c.611C>T" "r.(?)" "p.(Ala204Val)" "6" "0000169466" "00015734" "70" "823" "0" "825" "0" "c.823_825del" "r.(?)" "p.(Phe275del)" "8" "0000169498" "00015734" "70" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111*)" "3" "0000169499" "00015734" "70" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.(Gln139*)" "4" "0000169500" "00015734" "70" "942" "0" "942" "0" "c.942C>A" "r.(?)" "p.(Tyr314*)" "9" "0000169501" "00015734" "70" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Arg514*)" "15" "0000169502" "00015734" "90" "1225" "0" "1227" "0" "c.1225_1227del" "r.1225_1227del" "p.Ile409del" "12" "0000169503" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1225_1227del" "p.fs*" "12" "0000169504" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1225_1227del" "p.fs*" "12" "0000169505" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1225_1227del" "p.fs*" "12" "0000169506" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1225_1227del" "p.fs*" "12" "0000169507" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1218_1231delinsuagagcacagga" "p.fs*" "12" "0000169508" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1218_1231delinsuagagcacagga" "p.fs*" "12" "0000169509" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1218_1231delinsuagagcacagga" "p.fs*" "12" "0000169510" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1218_1231delinsuagagcacagga" "p.fs*" "12" "0000169511" "00015734" "90" "1225" "0" "1227" "0" "c.1225_1227del" "r.(?)" "p.(Ile409del)" "12" "0000169512" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1218_1231delinsuagagcacagga" "p.fs*" "12" "0000169513" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1218_1231delinsuagagcacagga" "p.fs*" "12" "0000169514" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1218_1231delinsuagagcacagga" "p.fs*" "12" "0000169515" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1218_1231delinsuagagcacagga" "p.fs*" "12" "0000169516" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1218_1231delinsuagagcacagga" "p.fs*" "12" "0000169517" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1218_1231delinsuagagcacagga" "p.fs*" "12" "0000169518" "00015734" "90" "1225" "0" "1227" "0" "c.1225_1227del" "r.(?)" "p.(Ile409del)" "12" "0000169519" "00015734" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "12" "0000169520" "00015734" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "12" "0000169521" "00015734" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "12" "0000169522" "00015734" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "12" "0000169523" "00015734" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "12" "0000169524" "00015734" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "12" "0000169525" "00015734" "90" "1299" "3" "1299" "10" "c.1299+3_1299+10del" "r.1199_1299del" "p.Thr401Leufs*5" "12i" "0000169526" "00015734" "90" "1299" "3" "1299" "10" "c.1299+3_1299+10del" "r.1199_1299del" "p.Thr401Leufs*6" "12i" "0000169527" "00015734" "90" "1283" "0" "1283" "0" "c.1283C>T" "r.1283c>u" "p.(Thr428Ile)" "12" "0000169528" "00015734" "90" "1283" "0" "1283" "0" "c.1283C>T" "r.1283c>u" "p.(Thr428Ile)" "12" "0000169529" "00015734" "90" "1283" "0" "1283" "0" "c.1283C>T" "r.1283c>u" "p.(Thr428Ile)" "12" "0000169530" "00015734" "90" "1283" "0" "1283" "0" "c.1283C>T" "r.1283c>u" "p.(Thr428Ile)" "12" "0000169531" "00015734" "90" "1495" "0" "1495" "0" "c.1495C>T" "r.1495c>u" "p.(Arg499*)" "14" "0000169532" "00015734" "70" "493" "0" "493" "0" "c.493C>T" "r.493c>u" "p.(Arg165Trp)" "5" "0000169533" "00015734" "90" "1283" "0" "1283" "0" "c.1283C>T" "r.1283c>u" "p.(Thr428Ile)" "12" "0000169534" "00015734" "90" "429" "3" "429" "6" "c.429+3_429+6del" "r.373_429del" "p.Asp125_Lys143del" "4i" "0000169535" "00015734" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "12" "0000169536" "00015734" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "12" "0000169537" "00015734" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "12" "0000169538" "00015734" "90" "1283" "0" "1283" "0" "c.1283C>T" "r.1283c>u" "p.(Thr428Ile)" "12" "0000169539" "00015734" "90" "429" "3" "429" "6" "c.429+3_429+6del" "r.373_429del" "p.Asp125_Lys143del" "4i" "0000169540" "00015734" "90" "1606" "0" "1606" "0" "c.1606A>G" "r.1606a>g" "p.Asn536Asp" "15" "0000169541" "00015734" "90" "683" "0" "683" "0" "c.683C>T" "r.683c>u" "p.Pro228Leu" "7" "0000169542" "00015734" "90" "418" "0" "429" "0" "c.418_429dup" "r.418_429dup" "p.Lys140_Ile141insLysIleCysLys" "4" "0000169543" "00015734" "90" "1398" "1" "1398" "1" "c.1398+1G>T" "r.1398_1399ins[u;1398+2_1398+142]" "p.?" "13i" "0000169544" "00015734" "90" "1606" "0" "1606" "0" "c.1606A>G" "r.1606a>g" "p.Asn536Asp" "15" "0000169545" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.(?)" "p.(?)" "12" "0000169546" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.(?)" "p.(?)" "12" "0000169547" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.(?)" "p.(?)" "12" "0000169548" "00015734" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.1228c>u" "p.Arg410Trp" "12" "0000169549" "00015734" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.1228c>u" "p.Arg410Trp" "12" "0000169550" "00015734" "90" "1225" "0" "1227" "0" "c.1225_1227del" "r.1225_1227del" "p.Ile409del" "12" "0000169551" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.(?)" "p.(?)" "12" "0000169552" "00015734" "90" "1173" "0" "1173" "0" "c.1173dup" "r.[1173dup, 1199_1299del]" "p.(Val392CysfsTer2)" "11" "0000169553" "00015734" "90" "1173" "0" "1173" "0" "c.1173dup" "r.[1173dup, 1199_1299del]" "p.(Val392CysfsTer2)" "11" "0000169554" "00015734" "90" "1173" "0" "1173" "0" "c.1173dup" "r.[1173dup, 1199_1299del]" "p.(Val392CysfsTer2)" "11" "0000169555" "00015734" "90" "1173" "0" "1173" "0" "c.1173dup" "r.[1173dup, 1199_1299del]" "p.(Val392CysfsTer2)" "11" "0000169556" "00015734" "90" "1173" "0" "1173" "0" "c.1173dup" "r.[1173dup, 1199_1299del]" "p.(Val392CysfsTer2)" "11" "0000169557" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1225_1227del" "p.fs*" "12" "0000169558" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1225_1227del" "p.fs*" "12" "0000169559" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1225_1227del" "p.fs*" "12" "0000169560" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1225_1227del" "p.fs*" "12" "0000169561" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1225_1227del" "p.fs*" "12" "0000169562" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1225_1227del" "p.fs*" "12" "0000169563" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1225_1227del" "p.fs*" "12" "0000169564" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1225_1227del" "p.fs*" "12" "0000169565" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1225_1227del" "p.fs*" "12" "0000169566" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.1225_1227del" "p.fs*" "12" "0000169567" "00015734" "90" "1173" "0" "1173" "0" "c.1173dup" "r.1173dup" "p.Val392Cysfs*2" "11" "0000169568" "00015734" "90" "1173" "0" "1173" "0" "c.1173dup" "r.1173dup" "p.Val392Cysfs*2" "11" "0000169569" "00015734" "90" "1173" "0" "1173" "0" "c.1173dup" "r.1173dup" "p.Val392Cysfs*2" "11" "0000169570" "00015734" "90" "1173" "0" "1173" "0" "c.1173dup" "r.1173dup" "p.Val392Cysfs*2" "11" "0000169571" "00015734" "90" "502" "0" "502" "0" "c.502G>A" "r.502g>a" "p.Glu168Lys" "5" "0000169572" "00015734" "90" "502" "0" "502" "0" "c.502G>A" "r.502g>a" "p.Glu168Lys" "5" "0000169573" "00015734" "90" "502" "0" "502" "0" "c.502G>A" "r.502g>a" "p.Glu168Lys" "5" "0000169574" "00015734" "90" "502" "0" "502" "0" "c.502G>A" "r.502g>a" "p.Glu168Lys" "5" "0000169575" "00015734" "30" "1490" "0" "1490" "0" "c.1490C>T" "r.1490c>u" "p.Ala497Val" "14" "0000169576" "00015734" "30" "1490" "0" "1490" "0" "c.1490C>T" "r.1490c>u" "p.Ala497Val" "14" "0000169577" "00015734" "50" "653" "0" "653" "0" "c.653A>G" "r.649_654del" "p.Val217_Lys218del" "6" "0000169578" "00015734" "90" "593" "0" "593" "0" "c.593G>A" "r.593G>A" "p.Gly198Asp" "6" "0000169579" "00015734" "50" "494" "0" "494" "0" "c.494G>A" "r.494g>a" "p.Arg165Gln" "5" "0000169580" "00015734" "90" "593" "0" "593" 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"p.(Gly188Arg)" "6" "0000169705" "00015734" "90" "1498" "2" "1498" "2" "c.1498+2T>C" "r.1399_1498del" "p.fs*" "14i" "0000169706" "00015734" "90" "1498" "2" "1498" "2" "c.1498+2T>C" "r.1399_1498del" "p.fs*" "14i" "0000169707" "00015734" "90" "1498" "2" "1498" "2" "c.1498+2T>C" "r.1399_1498del" "p.fs*" "14i" "0000169708" "00015734" "90" "1498" "2" "1498" "2" "c.1498+2T>C" "r.1399_1498del" "p.fs*" "14i" "0000169709" "00015734" "90" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113*)" "3" "0000169710" "00015734" "90" "654" "462" "654" "462" "c.654+462A>G" "r.654_655ins654+386_654+457" "p.fs*" "6i" "0000169711" "00015734" "90" "1514" "0" "1514" "0" "c.1514T>A" "r.(?)" "p.(Ile505Asn)" "15" "0000169712" "00015734" "90" "1253" "0" "1253" "0" "c.1253C>T" "r.(?)" "p.(Ala418Val)" "12" "0000169713" "00015734" "90" "167" "0" "179" "0" "c.167_179delinsC" "r.(?)" "p.(Asp56_Lys60delinsAla)" "1" "0000169714" "00015734" "90" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Gly162Arg)" "5" "0000169715" "00015734" "90" "560" "0" "561" "0" "c.560_561delinsA" "r.(?)" "p.fs*" "6" "0000169716" "00015734" "90" "560" "0" "561" "0" "c.560_561delinsT" "r.(?)" "p.(Ser187Leufs*9)" "6" "0000169717" "00015734" "90" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Ala201Thr)" "6" "0000169718" "00015734" "90" "1229" "0" "1229" "0" "c.1229G>A" "r.(?)" "p.(Arg410Gln)" "12" "0000169719" "00015734" "90" "763" "2" "763" "2" "c.763+2T>G" "r.spl" "p.?" "7i" "0000169720" "00015734" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376Cys)" "11" "0000169721" "00015734" "90" "773" "0" "773" "0" "c.773A>G" "r.(?)" "p.(Hiss258Arg)" "8" "0000169722" "00015734" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "12" "0000169723" "00015734" "90" "1298" "0" "1298" "0" "c.1298dup" "r.(?)" "p.(Ala434Glyfs*7)" "12" "0000169724" "00015734" "90" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Arg165Trp)" "5" "0000169725" "00015734" "90" "494" "0" "494" "0" "c.494G>A" "r.(?)" "p.(Arg165Gln)" "5" "0000169726" "00015734" "90" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Glu168Lys)" "5" "0000169727" "00015734" "90" "654" "462" "654" "462" "c.654+462A>G" "r.654_655ins654+386_654+457" "p.fs*" "6i" "0000169728" "00015734" "90" "990" "0" "990" "0" "c.990dup" "r.(?)" "p.(Glu331Ter)" "10" "0000169729" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.(?)" "p.fs*" "12" "0000169730" "00015734" "90" "1127" "0" "1127" "0" "c.1127G>T" "r.(?)" "p.(Arg376Leu)" "11" "0000169731" "00015734" "90" "1199" "-2" "1199" "-2" "c.1199-2A>G" "r.spl" "p.?" "11i" "0000169732" "00015734" "90" "1228" "0" "1228" "0" "c.1228C>T" "r.(?)" "p.(Arg410Trp)" "12" "0000169733" "00015734" "90" "1309" "0" "1309" "0" "c.1309G>A" "r.(?)" "p.(Gly437Ser)" "13" "0000169734" "00015734" "90" "1313" "0" "1313" "0" "c.1313C>T" "r.(?)" "p.(Ala438Val)" "13" "0000169735" "00015734" "90" "1351" "0" "1351" "0" "c.1351dup" "r.(?)" "p.(Thr451Asnfs*27)" "13" "0000169736" "00015734" "90" "1352" "0" "1352" "0" "c.1352C>T" "r.(?)" "p.(Thr451Ile)" "13" "0000169737" "00015734" "90" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512Cys)" "15" "0000169738" "00015734" "90" "155" "0" "183" "17" "c.155_183+17del" "r.spl" "p.?" "1" "0000169739" "00015734" "90" "1606" "0" "1606" "0" "c.1606A>G" "r.(?)" "p.(Asn536Asp)" "15" "0000169740" "00015734" "90" "183" "3" "183" "3" "c.183+3G>C" "r.(spl?)" "p.0?" "1i" "0000169741" "00015734" "90" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113*)" "3" "0000169742" "00015734" "90" "429" "3" "429" "6" "c.429+3_429+6del" "r.373_429del" "p.Asp125_Lys143del" "4i" "0000169743" "00015734" "50" "430" "-121" "430" "-121" "c.430-121C>T" "r.(?)" "p.(=)" "4i" "0000169744" "00015734" "90" "483" "0" "483" "0" "c.483dup" "r.(?)" "p.(Gly162Trpfs*68)" "5" "0000169745" "00015734" "90" "-51" "-1" "372" "1" "c.-51-?_372+?del" "r.0?" "p.0?" "1_3i" "0000169746" "00015734" "90" "-140" "0" "-140" "0" "c.-140C>G" "r.(?)" "p.(=)" "?" "0000169747" "00015734" "90" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Gly188Arg)" "6" "0000169748" "00015734" "90" "596" "0" "596" "0" "c.596C>G" "r.(?)" "p.(Pro199Arg)" "6" "0000169749" "00015734" "90" "613" "0" "613" "0" "c.613G>T" "r.(?)" "p.(Val205Phe)" "6" "0000169750" "00015734" "90" "620" "0" "620" "0" "c.620C>T" "r.(?)" "p.(Ser207Phe)" "6" "0000169751" "00015734" "90" "654" "20" "654" "20" "c.654+20T>C" "r.(?)" "p.(=)" "6i" "0000169752" "00015734" "90" "683" "0" "683" "0" "c.683C>T" "r.(?)" "p.(Pro228Leu)" "7" "0000169753" "00015734" "90" "764" "-2" "764" "-2" "c.764-2del" "r.spl" "p.?" "7i" "0000169754" "00015734" "90" "76" "0" "76" "0" "c.76dup" "r.(?)" "p.(Arg26Profs*11)" "1" "0000169755" "00015734" "90" "803" "0" "803" "0" "c.803T>G" "r.(?)" "p.(Leu268Trp)" "8" "0000169756" "00015734" "90" "862" "0" "862" "0" "c.862G>A" "r.(?)" "p.(Val288Ile)" "8" "0000169757" "00015734" "90" "872" "0" "872" "0" "c.872G>A" "r.(?)" "p.(Cys291Tyr)" "8" "0000169758" "00015734" "90" "885" "-2" "885" "-2" "c.885-2A>G" "r.spl" "p.?" "8i" "0000169759" "00015734" "90" "895" "0" "895" "0" "c.895G>T" "r.(?)" "p.(Val299Phe)" "9" "0000169760" "00015734" "90" "966" "105" "966" "105" "c.966+105G>A" "r.(?)" "p.(=)" "9i" "0000169761" "00015734" "50" "967" "-46" "967" "-46" "c.967-46A>G" "r.(?)" "p.(=)" "9i" "0000169762" "00015734" "90" "990" "0" "990" "0" "c.990dup" "r.(?)" "p.(Glu331Ter)" "10" "0000169763" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.(?)" "p.fs*" "12" "0000169764" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.(?)" "p.fs*" "12" "0000169765" "00015734" "90" "1299" "3" "1299" "10" "c.1299+3_1299+10del" "r.1199_1299del" "p.(Thr401Leufs*6)" "12i" "0000169766" "00015734" "90" "1173" "0" "1173" "0" "c.1173dup" "r.(?)" "p.(Val392Cysfs*2)" "11" "0000169767" "00015734" "90" "1204" "0" "1204" "0" "c.1204del" "r.(?)" "p.(Ala402Hisfs*41)" "12" "0000169768" "00015734" "90" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(G112D)" "3" "0000169769" "00015734" "90" "764" "-2" "764" "-2" "c.764-2del" "r.spl?" "p.?" "7i" "0000169770" "00015734" "90" "532" "0" "532" "0" "c.532G>C" "r.(?)" "p.(Asp178His)" "5" "0000169771" "00015734" "90" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Arg514*)" "15" "0000169772" "00015734" "90" "532" "0" "532" "0" "c.532G>C" "r.(?)" "p.(D178H)" "5" "0000169773" "00015734" "90" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(R514X)" "15" "0000169774" "00015734" "90" "1606" "0" "1606" "0" "c.1606A>G" "r.(?)" "p.(Asn536Asp)" "15" "0000169775" "00015734" "90" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113*)" "3" "0000169776" "00015734" "90" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Gly202Arg)" "6" "0000169777" "00015734" "90" "1309" "0" "1309" "0" "c.1309G>A" "r.(?)" "p.(Gly437Ser)" "13" "0000169778" "00015734" "90" "1498" "2" "1498" "2" "c.1498+2T>C" "r.1399_1498del" "p.fs*" "14i" "0000169779" "00015734" "90" "183" "2" "183" "2" "c.183+2T>C" "r.183_184ins[gc;183+3_183+20]" "p.fs*" "1i" "0000169780" "00015734" "90" "593" "0" "593" "0" "c.593G>A" "r.spl?" "p.(Gly198Asp)" "6" "0000169781" "00015734" "90" "1204" "0" "1204" "0" "c.1204del" "r.(?)" "p.(Ala402Hisfs*41)" "12" "0000169782" "00015734" "90" "429" "3" "429" "6" "c.429+3_429+6del" "r.373_429del" "p.del" "4i" "0000169783" "00015734" "90" "764" "-2" "764" "-2" "c.764-2del" "r.[764_966del, 764_1090del]" "p.?" "7i" "0000169784" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.(?)" "p.fs*" "12" "0000246183" "00015734" "50" "1145" "0" "1145" "0" "c.1145A>G" "r.(?)" "p.(Asp382Gly)" "" "0000249745" "00015734" "50" "430" "0" "430" "0" "c.430A>G" "r.(?)" "p.(Ile144Val)" "" "0000293439" "00015734" "70" "1067" "0" "1067" "0" "c.1067G>A" "r.(?)" "p.(Gly356Asp)" "" "0000293440" "00015734" "30" "1490" "0" "1490" "0" "c.1490C>T" "r.(?)" "p.(Ala497Val)" "" "0000293441" "00015734" "10" "654" "20" "654" "20" "c.654+20T>C" "r.(=)" "p.(=)" "" "0000296782" "00015734" "50" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Arg272Gln)" "" "0000305070" "00015734" "90" "1219" "0" "1219" "0" "c.1219G>A" "r.(?)" "p.(Gly407Ser)" "" "0000305071" "00015734" "90" "1223" "0" "1223" "0" "c.1223del" "r.(?)" "p.(Ile408ThrfsTer35)" "" "0000305072" "00015734" "90" "1226" "0" "1228" "0" "c.1226_1228del" "r.(?)" "p.(Ile409del)" "" "0000305073" "00015734" "90" "1231" "0" "1231" "0" "c.1231C>A" "r.(?)" "p.(His411Asn)" "" "0000305074" "00015734" "50" "269" "0" "269" "0" "c.269G>A" "r.(?)" "p.(Cys90Tyr)" "" "0000329635" "00015734" "50" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53His)" "" "0000461252" "00015734" "90" "155" "0" "183" "17" "c.155_183+17del" "r.spl?" "p.?" "" "0000518040" "00015734" "30" "49" "0" "49" "0" "c.49C>A" "r.(?)" "p.(Leu17Met)" "" "0000518041" "00015734" "30" "49" "0" "49" "0" "c.49C>A" "r.(?)" "p.(Leu17Met)" "" "0000518042" "00015734" "30" "165" "0" "165" "0" "c.165T>C" "r.(?)" "p.(Ile55=)" "" "0000518043" "00015734" "30" "183" "17" "183" "17" "c.183+17C>T" "r.(=)" "p.(=)" "" "0000518044" "00015734" "50" "262" "0" "262" "0" "c.262C>A" "r.(?)" "p.(His88Asn)" "" "0000518045" "00015734" "30" "303" "8" "303" "8" "c.303+8T>A" "r.(=)" "p.(=)" "" "0000518046" "00015734" "10" "373" "-1292" "373" "-1292" "c.373-1292C>T" "r.(=)" "p.(=)" "" "0000518047" "00015734" "90" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Arg165Trp)" "" "0000518048" "00015734" "10" "546" "0" "546" "0" "c.546G>A" "r.(?)" "p.(Arg182=)" "" "0000518049" "00015734" "50" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Arg272Gln)" "" "0000518050" "00015734" "30" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Arg272Gln)" "" "0000518051" "00015734" "50" "911" "0" "911" "0" "c.911C>T" "r.(?)" "p.(Thr304Ile)" "" "0000518052" "00015734" "90" "1217" "0" "1218" "0" "c.1217_1218insTA" "r.(?)" "p.(Gly407ArgfsTer37)" "" "0000518053" "00015734" "10" "1299" "9" "1299" "9" "c.1299+9C>A" "r.(=)" "p.(=)" "" "0000518055" "00015734" "10" "1485" "0" "1485" "0" "c.1485T>G" "r.(?)" "p.(Pro495=)" "" "0000518056" "00015734" "30" "1490" "0" "1490" "0" "c.1490C>T" "r.(?)" "p.(Ala497Val)" "" "0000518057" "00015734" "30" "1490" "0" "1490" "0" "c.1490C>T" "r.(?)" "p.(Ala497Val)" "" "0000608339" "00015734" "50" "146" "0" "146" "0" "c.146G>C" "r.(?)" "p.(Gly49Ala)" "" "0000608340" "00015734" "70" "173" "0" "173" "0" "c.173A>C" "r.(?)" "p.(Gln58Pro)" "" "0000608341" "00015734" "50" "250" "0" "250" "0" "c.250A>G" "r.(?)" "p.(Met84Val)" "" "0000608342" "00015734" "50" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Pro199Ser)" "" "0000608343" "00015734" "70" "611" "0" "611" "0" "c.611C>T" "r.(?)" "p.(Ala204Val)" "" "0000608344" "00015734" "70" "823" "0" "825" "0" "c.823_825del" "r.(?)" "p.(Phe275del)" "" "0000608345" "00015734" "70" "872" "0" "872" "0" "c.872G>A" "r.(?)" "p.(Cys291Tyr)" "" "0000651081" "00015734" "50" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Arg272Gln)" "" "0000653349" "00015734" "70" "359" "0" "360" "0" "c.359_360del" "r.(?)" "p.(Tyr120Cysfs*40)" "3" "0000653350" "00015734" "70" "1398" "1" "1398" "1" "c.1398+1G>A" "r.spl" "p.?" "13i" "0000654811" "00015734" "90" "584" "0" "584" "0" "c.584del" "r.(?)" "p.(Leu195ArgfsTer16)" "" "0000654812" "00015734" "30" "1498" "12" "1498" "13" "c.1498+12_1498+13del" "r.(=)" "p.(=)" "" "0000676833" "00015734" "70" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Glu168Lys)" "" "0000676834" "00015734" "30" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Arg272Gln)" "" "0000676835" "00015734" "70" "872" "0" "872" "0" "c.872G>A" "r.(?)" "p.(Cys291Tyr)" "" "0000676836" "00015734" "70" "1508" "0" "1508" "0" "c.1508A>G" "r.(?)" "p.(Asp503Gly)" "" "0000688951" "00015734" "50" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Arg113Gln)" "" "0000688952" "00015734" "30" "373" "-1229" "373" "-1229" "c.373-1229T>C" "r.(=)" "p.(=)" "" "0000688953" "00015734" "10" "654" "20" "654" "20" "c.654+20T>C" "r.(=)" "p.(=)" "" "0000688954" "00015734" "50" "872" "0" "872" "0" "c.872G>A" "r.(?)" "p.(Cys291Tyr)" "" "0000688955" "00015734" "50" "872" "0" "872" "0" "c.872G>A" "r.(?)" "p.(Cys291Tyr)" "" "0000688956" "00015734" "50" "1288" "0" "1288" "0" "c.1288A>C" "r.(?)" "p.(Ile430Leu)" "" "0000688957" "00015734" "30" "1490" "0" "1490" "0" "c.1490C>T" "r.(?)" "p.(Ala497Val)" "" "0000719211" "00015734" "50" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Arg113Gln)" "" "0000719212" "00015734" "50" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Thr214Met)" "" "0000719213" "00015734" "50" "13095" "0" "13095" "0" "c.*11475T>C" "r.(=)" "p.(=)" "" "0000801013" "00015734" "30" "82" "0" "82" "0" "c.82C>G" "r.(?)" "p.(Leu28Val)" "" "0000801014" "00015734" "30" "882" "0" "882" "0" "c.882C>T" "r.(?)" "p.(Pro294=)" "" "0000801015" "00015734" "50" "1004" "0" "1004" "0" "c.1004A>T" "r.(?)" "p.(Asn335Ile)" "" "0000801016" "00015734" "50" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Gly406Arg)" "" "0000801017" "00015734" "30" "1399" "-5" "1399" "-5" "c.1399-5C>T" "r.spl?" "p.?" "" "0000850145" "00015734" "50" "746" "0" "746" "0" "c.746C>T" "r.(?)" "p.(Thr249Ile)" "" "0000858812" "00015734" "30" "82" "0" "82" "0" "c.82C>G" "r.(?)" "p.(Leu28Val)" "" "0000858813" "00015734" "50" "373" "-1293" "373" "-1293" "c.373-1293G>T" "r.(=)" "p.(=)" "" "0000885568" "00015734" "30" "546" "0" "546" "0" "c.546G>A" "r.(?)" "p.(Arg182=)" "" "0000918625" "00015734" "70" "1417" "0" "1417" "0" "c.1417T>C" "r.(?)" "p.(Phe473Leu)" "" "0000918947" "00015734" "70" "332" "0" "332" "0" "c.332G>T" "r.(?)" "p.(Arg111Leu)" "" "0000923844" "00015734" "50" "1137" "0" "1137" "0" "c.1137A>C" "r.(?)" "p.(Arg379Ser)" "" "0000928717" "00015734" "30" "862" "0" "862" "0" "c.862G>A" "r.(?)" "p.(Val288Ile)" "" "0000948038" "00015734" "30" "429" "7" "429" "7" "c.429+7G>A" "r.(=)" "p.(=)" "" "0000948039" "00015734" "30" "544" "-5" "544" "-5" "c.544-5G>C" "r.spl?" "p.?" "" "0000948040" "00015734" "30" "882" "0" "882" "0" "c.882C>T" "r.(?)" "p.(Pro294=)" "" "0000975594" "00015734" "50" "108" "0" "108" "0" "c.108C>A" "r.(?)" "p.(Asn36Lys)" "" "0000975595" "00015734" "50" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(Asp98Gly)" "" "0000975596" "00015734" "50" "646" "0" "646" "0" "c.646A>G" "r.(?)" "p.(Met216Val)" "" "0000975597" "00015734" "50" "911" "0" "911" "0" "c.911C>T" "r.(?)" "p.(Thr304Ile)" "" "0000975598" "00015734" "50" "1006" "0" "1006" "0" "c.1006T>C" "r.(?)" "p.(Tyr336His)" "" "0001007310" "00015734" "90" "1218" "0" "1231" "0" "c.1218_1231delinsTAGAGCACAGGA" "r.(?)" "p.(Gly407ArgfsTer14)" "" "0001013819" "00015734" "70" "1283" "0" "1283" "0" "c.1283C>T" "r.(?)" "p.(Thr428Ile)" "" "0001030166" "00015734" "90" "1388" "0" "1388" "0" "c.1388T>G" "r.(?)" "p.(Met463Arg)" "13" "0001030167" "00015734" "70" "1309" "0" "1309" "0" "c.1309G>A" "r.(?)" "p.(Gly437Ser)" "13" "0001033707" "00015734" "50" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Pro199Ser)" "" "0001033708" "00015734" "50" "613" "0" "613" "0" "c.613G>A" "r.(?)" "p.(Val205Ile)" "" "0001033709" "00015734" "50" "1378" "0" "1378" "0" "c.1378A>G" "r.(?)" "p.(Ile460Val)" "" "0001033710" "00015734" "50" "13066" "0" "13066" "0" "c.*11446T>C" "r.(=)" "p.(=)" "" "0001051520" "00015734" "50" "941" "0" "941" "0" "c.941A>G" "r.(?)" "p.(Tyr314Cys)" "" "0001051521" "00015734" "50" "1352" "0" "1352" "0" "c.1352C>T" "r.(?)" "p.(Thr451Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 299 "{{screeningid}}" "{{variantid}}" "0000024226" "0000046775" "0000104521" "0000169465" "0000104521" "0000169466" "0000104548" "0000169498" "0000104548" "0000169499" "0000104549" "0000169500" "0000104550" "0000169501" "0000104551" "0000169502" "0000104551" "0000169503" "0000104552" "0000169504" "0000104553" "0000169505" "0000104554" "0000169506" "0000104555" "0000169507" "0000104556" "0000169508" "0000104557" "0000169509" "0000104558" "0000169510" "0000104558" "0000169511" "0000104559" "0000169512" "0000104560" "0000169513" "0000104560" "0000169514" "0000104561" "0000169515" "0000104561" "0000169516" "0000104562" "0000169517" "0000104562" "0000169518" "0000104563" "0000169519" "0000104563" "0000169520" "0000104564" "0000169521" "0000104564" "0000169522" "0000104565" "0000169523" "0000104565" "0000169524" "0000104566" "0000169525" "0000104566" "0000169526" "0000104567" "0000169527" "0000104567" "0000169528" "0000104568" "0000169529" "0000104568" "0000169530" "0000104569" "0000169531" "0000104569" "0000169532" "0000104570" "0000169533" "0000104570" "0000169534" "0000104571" "0000169535" "0000104571" "0000169536" "0000104572" "0000169537" "0000104573" "0000169538" "0000104573" "0000169539" "0000104574" "0000169540" "0000104574" "0000169541" "0000104575" "0000169542" "0000104575" "0000169543" "0000104576" "0000169544" "0000104576" "0000169545" "0000104577" "0000169546" "0000104577" "0000169547" "0000104578" "0000169548" "0000104578" "0000169549" "0000104579" "0000169550" "0000104579" "0000169551" "0000104580" "0000169552" "0000104580" "0000169553" "0000104581" "0000169554" "0000104581" "0000169555" "0000104582" "0000169556" "0000104583" "0000169557" "0000104583" "0000169558" "0000104584" "0000169559" "0000104584" "0000169560" "0000104585" "0000169561" "0000104585" "0000169562" "0000104586" "0000169563" "0000104586" "0000169564" "0000104587" "0000169565" "0000104587" "0000169566" "0000104588" "0000169567" "0000104588" "0000169568" "0000104589" "0000169569" "0000104589" "0000169570" "0000104590" "0000169571" "0000104590" "0000169572" "0000104591" "0000169573" "0000104591" "0000169574" "0000104592" "0000169575" "0000104592" "0000169576" "0000104593" "0000169577" "0000104593" "0000169578" "0000104593" "0000169579" "0000104593" "0000169580" "0000104594" "0000169581" "0000104594" "0000169582" "0000104595" "0000169583" "0000104595" "0000169584" "0000104596" "0000169585" "0000104596" "0000169586" "0000104597" "0000169587" "0000104597" "0000169588" "0000104597" "0000169589" "0000104598" "0000169590" "0000104598" "0000169591" "0000104599" "0000169592" "0000104599" "0000169593" "0000104600" "0000169594" "0000104600" "0000169595" "0000104601" "0000169596" "0000104601" "0000169597" "0000104602" "0000169598" "0000104602" "0000169599" "0000104603" "0000169600" "0000104603" "0000169601" "0000104604" "0000169602" "0000104604" "0000169603" "0000104605" "0000169604" "0000104605" "0000169605" "0000104606" "0000169606" "0000104606" "0000169607" "0000104606" "0000169608" "0000104607" "0000169609" "0000104607" "0000169610" "0000104608" "0000169611" "0000104608" "0000169612" "0000104609" "0000169613" "0000104609" "0000169614" "0000104610" "0000169615" "0000104611" "0000169616" "0000104611" "0000169617" "0000104612" "0000169618" "0000104612" "0000169619" "0000104613" "0000169620" "0000104614" "0000169621" "0000104614" "0000169622" "0000104614" "0000169623" "0000104615" "0000169624" "0000104615" "0000169625" "0000104615" "0000169626" "0000104616" "0000169627" "0000104616" "0000169628" "0000104617" "0000169629" "0000104617" "0000169630" "0000104618" "0000169631" "0000104618" "0000169632" "0000104619" "0000169633" "0000104619" "0000169634" "0000104620" "0000169635" "0000104620" "0000169636" "0000104621" "0000169637" "0000104621" "0000169638" "0000104622" "0000169639" "0000104622" "0000169640" "0000104623" "0000169641" "0000104623" "0000169642" "0000104624" "0000169643" "0000104625" "0000169644" "0000104625" "0000169645" "0000104626" "0000169646" "0000104626" "0000169647" "0000104627" "0000169648" "0000104627" "0000169649" "0000104628" "0000169650" "0000104628" "0000169651" "0000104629" "0000169652" "0000104629" "0000169653" "0000104630" "0000169654" "0000104630" "0000169655" "0000104631" "0000169656" "0000104631" "0000169657" "0000104632" "0000169658" "0000104632" "0000169659" "0000104633" "0000169660" "0000104633" "0000169661" "0000104634" "0000169662" "0000104634" "0000169663" "0000104635" "0000169664" "0000104635" "0000169665" "0000104636" "0000169666" "0000104636" "0000169667" "0000104637" "0000169668" "0000104637" "0000169669" "0000104638" "0000169670" "0000104638" "0000169671" "0000104638" "0000169672" "0000104638" "0000169673" "0000104639" "0000169674" "0000104639" "0000169675" "0000104640" "0000169676" "0000104640" "0000169677" "0000104641" "0000169678" "0000104641" "0000169679" "0000104642" "0000169680" "0000104642" "0000169681" "0000104643" "0000169682" "0000104643" "0000169683" "0000104644" "0000169684" "0000104644" "0000169685" "0000104645" "0000169686" "0000104645" "0000169687" "0000104646" "0000169688" "0000104646" "0000169689" "0000104647" "0000169690" "0000104647" "0000169691" "0000104648" "0000169692" "0000104648" "0000169693" "0000104649" "0000169694" "0000104650" "0000169695" "0000104651" "0000169696" "0000104652" "0000169697" "0000104653" "0000169698" "0000104654" "0000169699" "0000104655" "0000169700" "0000104656" "0000169701" "0000104657" "0000169702" "0000104658" "0000169703" "0000104659" "0000169704" "0000104660" "0000169705" "0000104660" "0000169706" "0000104661" "0000169707" "0000104661" "0000169708" "0000104662" "0000169709" "0000104663" "0000169710" "0000104664" "0000169711" "0000104665" "0000169712" "0000104666" "0000169713" "0000104667" "0000169714" "0000104668" "0000169715" "0000104669" "0000169716" "0000104670" "0000169717" "0000104671" "0000169718" "0000104672" "0000169719" "0000104673" "0000169720" "0000104674" "0000169721" "0000104675" "0000169722" "0000104676" "0000169723" "0000104677" "0000169724" "0000104678" "0000169725" "0000104679" "0000169726" "0000104680" "0000169727" "0000104681" "0000169728" "0000104682" "0000169729" "0000104683" "0000169730" "0000104684" "0000169731" "0000104685" "0000169732" "0000104686" "0000169733" "0000104687" "0000169734" "0000104688" "0000169735" "0000104689" "0000169736" "0000104690" "0000169737" "0000104691" "0000169738" "0000104692" "0000169739" "0000104693" "0000169740" "0000104694" "0000169741" "0000104695" "0000169742" "0000104696" "0000169743" "0000104697" "0000169744" "0000104698" "0000169745" "0000104699" "0000169746" "0000104700" "0000169747" "0000104701" "0000169748" "0000104702" "0000169749" "0000104703" "0000169750" "0000104704" "0000169751" "0000104705" "0000169752" "0000104706" "0000169753" "0000104707" "0000169754" "0000104708" "0000169755" "0000104709" "0000169756" "0000104710" "0000169757" "0000104711" "0000169758" "0000104712" "0000169759" "0000104713" "0000169760" "0000104714" "0000169761" "0000104715" "0000169762" "0000104716" "0000169763" "0000104717" "0000169764" "0000104718" "0000169765" "0000104719" "0000169766" "0000104720" "0000169767" "0000104721" "0000169768" "0000104722" "0000169769" "0000104723" "0000169770" "0000104724" "0000169771" "0000104725" "0000169772" "0000104726" "0000169773" "0000104727" "0000169774" "0000104728" "0000169775" "0000104729" "0000169776" "0000104730" "0000169777" "0000104731" "0000169778" "0000104732" "0000169779" "0000104733" "0000169780" "0000104734" "0000169781" "0000104735" "0000169782" "0000104736" "0000169783" "0000104737" "0000169784" "0000227199" "0000461252" "0000294392" "0000651081" "0000296659" "0000653349" "0000296659" "0000653350" "0000432999" "0000918625" "0000433303" "0000918947" "0000455277" "0001007310" "0000466256" "0001030166" "0000466256" "0001030167"