### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PORCN)
# 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}}"
"PORCN"	"porcupine homolog (Drosophila)"	"X"	"p11.23"	"unknown"	"NG_009278.1"	"UD_132085419039"	""	"https://www.LOVD.nl/PORCN"	""	"1"	"17652"	"64840"	"300651"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"http://databases.lovd.nl/shared/refseq/PORCN_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00000"	"2010-02-12 00:00:00"	"00006"	"2017-11-10 13:36:01"	"00000"	"2026-01-20 18:57:21"


## 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}}"
"00023900"	"PORCN"	"transcript variant D"	"003"	"NM_203475.1"	""	"NP_982301.1"	""	""	""	"-37"	"1724"	"1386"	"48368172"	"48379202"	"00006"	"2014-01-17 19:10:03"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 9
"{{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"
"00298"	"FDH"	"hypoplasia, dermal, focal (FDH)"	"XLD"	"305600"	""	"X-linked dominant"	""	"00006"	"2014-01-17 19:02:50"	"00006"	"2021-12-10 21:51:32"
"00944"	"GOSHS"	"Goldberg-Shprintzen megacolon syndrome"	"AR"	"609460"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01157"	"CHTE"	"Hypothyroidism, central, testicular enlargement (CHTE)"	"XLR"	"300888"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01768"	"SHFM6"	"split-hand/foot malformation, type 6 (SHFM-6)"	"AR"	"225300"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"PORCN"	"00139"
"PORCN"	"00298"


## Individuals ## Do not remove or alter this header ##
## Count = 229
"{{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}}"
"00000208"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00000209"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00004220"	""	""	""	"1"	""	"00574"	""	""	"M"	"no"	"(Belgium)"	"00y00m00d"	"0"	""	""	"white"	""
"00004221"	""	""	""	"1"	""	"00574"	""	""	"M"	"no"	"(Belgium)"	"00y00m10d"	"0"	""	""	"white"	""
"00004223"	""	""	""	"1"	""	"00574"	""	"skewed X-inactivation; 70/30"	"F"	"no"	"(Belgium)"	">08y"	"0"	""	""	"white"	""
"00004224"	""	""	""	"1"	""	"00574"	""	"skewed X-inactivation; 88/18"	"F"	"no"	"(Belgium)"	">05y"	"0"	""	""	"white"	""
"00004225"	""	""	""	"1"	""	"00574"	""	"healthy mother of Patient 1, Patient 2, Patient 3, Patient 4.\r\nSkewed X-inactivation; 90/10"	"F"	"no"	"(Belgium)"	">40y"	"0"	""	""	"white"	""
"00132797"	""	""	""	"2"	""	"02308"	""	"multi-generation family, several affecteds"	"M"	"no"	"United Kingdom (Great Britain)"	">26y"	"0"	"Yes"	""	"White British"	"121906"
"00132798"	""	""	""	"2"	""	"02308"	""	""	"M"	"no"	"United Kingdom (Great Britain)"	">48y"	"0"	"Yes"	""	"White British"	"121906"
"00163778"	""	""	""	"1"	""	"01741"	""	""	""	""	""	""	"0"	""	""	""	""
"00231005"	""	""	""	"1"	""	"01962"	""	""	"M"	"no"	"Japan"	""	"0"	""	""	""	"35-II-1"
"00231006"	""	""	""	"1"	""	"01962"	""	""	"F"	"no"	"Japan"	""	"0"	""	""	""	"36-II-1"
"00233852"	""	""	""	"1"	""	"00577"	"{PMID:Lombardi 2011:21472892}"	""	"F"	""	"Netherlands"	""	"0"	""	""	"white"	""
"00233853"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233854"	""	""	""	"1"	""	"00577"	"{PMID:Harmsen 2009:19277062}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233855"	""	""	""	"1"	""	"00577"	"{PMID:Wang 2007:17546030}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233856"	""	""	""	"1"	""	"00577"	"{PMID:Clements 2009:19292719}"	"adopted"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"white"	"Proband 2"
"00233857"	""	""	""	"1"	""	"00577"	"{PMID:Harmsen 2009:19277062}"	"mother of FDH3b"	"F"	""	""	""	"0"	""	""	""	""
"00233858"	""	""	""	"1"	""	"00577"	"{PMID:Harmsen 2009:19277062}"	"daughter of FDH3a"	"F"	""	""	""	"0"	""	""	""	""
"00233859"	""	""	""	"1"	""	"00577"	"{PMID:Wang 2007:17546030}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233860"	""	""	""	"1"	""	"00577"	"{PMID:Wang 2007:17546030}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233861"	""	""	""	"1"	""	"00577"	"{PMID:Harmsen 2009:19277062}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233862"	""	""	""	"1"	""	"00577"	"{PMID:Grzeschik 2007:17546031}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233863"	""	""	""	"1"	""	"00577"	"{PMID:Wang 2007:17546030}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233864"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233865"	""	""	""	"1"	""	"00577"	"{PMID:Harmsen 2009:19277062}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233866"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233867"	""	""	""	"1"	""	"00577"	"{PMID:Maas 2009:19586929}"	""	"F"	""	"Netherlands"	""	"0"	""	""	"white"	"1"
"00233868"	""	""	""	"1"	""	"00577"	"{PMID:Wang 2007:17546030}"	""	"M"	""	""	""	"0"	""	""	""	""
"00233869"	""	""	""	"1"	""	"00577"	"{PMID:Grzeschik 2007:17546031}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233870"	""	""	""	"1"	""	"00577"	"{PMID:Grzeschik 2007:17546031}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233871"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233872"	""	""	""	"1"	""	"00577"	"communicated by MP Lombardi"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"white"	""
"00233873"	""	""	""	"1"	""	"00577"	"{PMID:Leoyklang 2009:18325042}"	""	"F"	""	"Thailand"	""	"0"	""	""	"Thai"	"patient 1"
"00233874"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233875"	""	""	""	"1"	""	"00577"	"{PMID:Schaffer 2009:19221286}"	""	"F"	""	"Ecuador"	""	"0"	""	""	""	"case report"
"00233876"	""	""	""	"1"	""	"00577"	"{PMID:Harmsen 2009:19277062}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233877"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233878"	""	""	""	"1"	""	"00577"	"{PMID:Wang 2007:17546030}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233879"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	""	"M"	""	""	""	"0"	""	""	""	""
"00233880"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233881"	""	""	""	"1"	""	"00577"	"{PMID:Maas 2009:19586929}"	""	"F"	""	"Netherlands"	""	"0"	""	""	"white"	"10"
"00233882"	""	""	""	"1"	""	"00577"	"{PMID:Maas 2009:19586929}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"white"	"2"
"00233883"	""	""	""	"1"	""	"00577"	"{PMID:Harmsen 2009:19277062}"	"mother and grandmother possibly affected"	"F"	""	""	""	"0"	""	""	""	""
"00233884"	""	""	""	"1"	""	"00577"	"{PMID:Maas 2009:19586929}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"white"	"3"
"00233885"	""	""	""	"1"	""	"00577"	"{PMID:Wang 2007:17546030}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233886"	""	""	""	"1"	""	"00577"	"{PMID:Maas 2009:19586929}"	""	"F"	""	"Netherlands"	""	"0"	""	""	"white"	"6"
"00233887"	""	""	""	"1"	""	"00577"	"{PMID:Leoyklang 2009:18325042}"	"c[.682C>T; 737_738insA] mutations are on same allele"	"F"	""	"Thailand"	""	"0"	""	""	"Thai"	"Patient 2"
"00233888"	""	""	""	"1"	""	"00577"	"{PMID:Grzeschik 2007:17546031}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233889"	""	""	""	"1"	""	"00577"	"{PMID:Grzeschik 2007:17546031}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233890"	""	""	""	"1"	""	"00577"	"{PMID:Harmsen 2009:19277062}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233891"	""	""	""	"1"	""	"02310"	"communicated by MP Lombardi"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00233892"	""	""	""	"1"	""	"00577"	"{PMID:Smigiel 2011:21484999}"	"born 09-02-2009"	"F"	""	"Poland"	""	"0"	""	""	"white"	""
"00233893"	""	""	""	"1"	""	"00577"	"{PMID:Lombardi 2011:21472892}"	"born 05-12-2009"	"F"	""	"Sweden"	""	"0"	""	""	"white"	""
"00233894"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233895"	""	""	""	"1"	""	"00577"	"{PMID:Wang 2007:17546030}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233896"	""	""	""	"1"	""	"00577"	"{PMID:Grzeschik 2007:17546031}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233897"	""	""	""	"1"	""	"00577"	"{PMID:Clements 2009:19292719}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"white"	"Proband 1"
"00233898"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233899"	""	""	""	"1"	""	"00577"	"{PMID:Maas 2009:19586929}"	"sister of 12"	"F"	""	"Netherlands"	""	"0"	""	""	"white"	"11"
"00233900"	""	""	""	"1"	""	"00577"	"{PMID:Maas 2009:19586929}"	"sister of 11"	"F"	""	"Netherlands"	""	"0"	""	""	"white"	"12"
"00233901"	""	""	""	"1"	""	"00577"	"{PMID:Clements 2008:17951029}"	""	"F"	""	"Thailand"	""	"0"	""	""	"Thai"	"patient 1"
"00233902"	""	""	""	"1"	""	"00577"	"{PMID:Lombardi 2011:21472892}"	""	"F"	""	"Sweden"	""	"0"	""	""	""	""
"00233903"	""	""	""	"1"	""	"00577"	"{PMID:Grzeschik 2007:17546031}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233904"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233905"	""	""	""	"1"	""	"00577"	"{PMID:Maas 2009:19586929}"	""	"F"	""	"Netherlands"	""	"0"	""	""	"white"	"8"
"00233906"	""	""	""	"1"	""	"00577"	"{PMID:Maas 2009:19586929}"	"fetus (of pat 8)"	"F"	""	"Netherlands"	""	"0"	""	""	"white"	"8.1"
"00233907"	""	""	""	"1"	""	"00577"	"{PMID:Lombardi 2011:21472892}"	""	"F"	""	"Denmark"	""	"0"	""	""	"white"	""
"00233908"	""	""	""	"1"	""	"00577"	"{PMID:Froyen 2009:19863546}"	""	"F"	""	"Belgium"	""	"0"	""	""	"white"	""
"00233909"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233910"	""	""	""	"1"	""	"00577"	"{PMID:Wang 2007:17546030}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233911"	""	""	""	"1"	""	"00577"	"{PMID:Wang 2007:17546030}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233912"	""	""	""	"1"	""	"00577"	"{PMID:Wang 2007:17546030}"	""	"M"	""	""	""	"0"	""	""	""	""
"00233913"	""	""	""	"1"	""	"00577"	"{PMID:Grzeschik 2007:17546031}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233914"	""	""	""	"1"	""	"00577"	"{PMID:Wang 2007:17546030}"	""	"M"	""	""	""	"0"	""	""	""	""
"00233915"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	"mother has skin linear lesions"	"F"	""	""	""	"0"	""	""	""	""
"00233916"	""	""	""	"1"	""	"00577"	"{PMID:Harmsen 2009:19277062}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233917"	""	""	""	"1"	""	"00577"	"{PMID:Wang 2007:17546030}"	""	"M"	""	""	""	"0"	""	""	""	""
"00233918"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233919"	""	""	""	"1"	""	"00577"	"{PMID:Maas 2009:19586929}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"white"	"13"
"00233920"	""	""	""	"1"	""	"00577"	"{PMID:Leoyklang 2009:18325042}"	""	"F"	""	"Thailand"	""	"0"	""	""	"Thai"	"Patient 3"
"00233921"	""	""	""	"1"	""	"00577"	"{PMID:Froyen 2009:19863546}"	""	"F"	""	"Finland"	""	"0"	""	""	"white"	""
"00233922"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	""	"M"	""	""	""	"0"	""	""	""	""
"00233923"	""	""	""	"1"	""	"00577"	"{PMID:Wang 2007:17546030}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233924"	""	""	""	"1"	""	"00577"	"{PMID:Maas 2009:19586929}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"white"	"14"
"00233925"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233926"	""	""	""	"1"	""	"00577"	"{PMID:Harmsen 2009:19277062}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233927"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	""	"M"	""	""	""	"0"	""	""	""	""
"00233928"	""	""	""	"1"	""	"00577"	"{PMID:Harmsen 2009:19277062}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233929"	""	""	""	"1"	""	"00577"	"{PMID:Maas 2009:19586929}"	""	"F"	""	"Netherlands"	""	"0"	""	""	"white"	"9"
"00233930"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233931"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233932"	""	""	""	"1"	""	"00577"	"{PMID:Harmsen 2009:19277062}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233933"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	""	"M"	""	""	""	"0"	""	""	""	""
"00233934"	""	""	""	"1"	""	"00577"	"{PMID:Harmsen 2009:19277062}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233935"	""	""	""	"1"	""	"00577"	"{PMID:Maas 2009:19586929}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"white"	"4"
"00233936"	""	""	""	"1"	""	"00577"	"{PMID:Maas 2009:19586929}"	""	"F"	""	"Slovenia"	""	"0"	""	""	"white"	"5"
"00233937"	""	""	""	"1"	""	"00577"	"{PMID:Maas 2009:19586929}"	"fetus 1 (of pat 5)"	"F"	""	"Slovenia"	""	"0"	""	""	"white"	"5.1"
"00233938"	""	""	""	"1"	""	"00577"	"{PMID:Maas 2009:19586929}"	"fetus 2 (of pat 5)"	"F"	""	"Slovenia"	""	"0"	""	""	"white"	"5.2"
"00233939"	""	""	""	"1"	""	"00577"	"{PMID:Maas 2009:19586929}"	""	"F"	""	"Netherlands"	""	"0"	""	""	"white"	"7"
"00233940"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233941"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233942"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233943"	""	""	""	"1"	""	"00577"	"{PMID:Bornholdt 2009:19309688}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233944"	""	""	""	"1"	""	"00577"	"{PMID:Grzeschik 2007:17546031}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233945"	""	""	""	"1"	""	"00577"	"{PMID:Grzeschik 2007:17546031}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233946"	""	""	""	"1"	""	"00577"	"{PMID:Grzeschik 2007:17546031}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233947"	""	""	""	"1"	""	"00577"	"{PMID:Wang 2007:17546030}"	"mother and sister affected by history"	"F"	""	""	""	"0"	""	""	""	""
"00233948"	""	""	""	"1"	""	"00577"	"{PMID:Wang 2007:17546030}"	""	"F"	""	""	""	"0"	""	""	""	""
"00233949"	""	""	""	"1"	""	"00577"	"{PMID:Froyen 2009:19863546}"	""	"F"	""	"Finland"	""	"0"	""	""	"white"	""
"00233950"	""	""	""	"1"	""	"00577"	"{PMID:Houge, 2008:18478042}"	"phenotype is angioma serpiginosum"	"F"	""	"Norway"	""	"0"	""	""	"white"	"Norway"
"00233951"	""	""	""	"1"	""	"00577"	"{PMID:Lombardi 2011:21472892}"	"RD born 18-06-1988, referred M Gabbett, Australia"	"F"	""	"Australia"	""	"0"	""	""	""	""
"00233952"	""	""	""	"1"	""	"00577"	"{PMID:Lombardi 2011:21472892}"	"KF born 16-12-2008, referred by Anne Lampe, Edinburgh"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"white"	""
"00233953"	""	""	""	"1"	""	"00577"	"unpublished"	"D.G., born 16-06-1988, refrred by den Hollander, LUMC"	"F"	""	"Netherlands"	""	"0"	""	""	"white"	""
"00233954"	""	""	""	"1"	""	"00577"	"{PMID:Lombardi 2011:21472892}"	"born, 28-08-2005, referred by J van der Smagt"	"F"	""	""	""	"0"	""	""	""	""
"00233955"	""	""	""	"1"	""	"00577"	"{PMID:Dias 2010:20704476}"	"fetus at 34 weeks gestation"	"F"	""	"Portugal"	""	"0"	""	""	"white"	""
"00233956"	""	""	""	"1"	""	"00577"	"{PMID:Vreeburg 2010:20626533}"	"5-year-old boy, mild phenotype"	"M"	""	"Netherlands"	""	"0"	""	""	"white"	""
"00233957"	""	""	""	"1"	""	"03285"	"unpublished"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"European"	""
"00233958"	""	""	""	"1"	""	"00577"	"unpublished"	""	"F"	""	"Nigeria"	""	"0"	""	""	"African"	""
"00233959"	""	""	""	"1"	""	"02310"	"{PMID:Fernandes 2010:220854095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 1"
"00233960"	""	""	""	"1"	""	"02310"	"{PMID:Fernandes 2010:220854095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 2"
"00233961"	""	""	""	"1"	""	"00577"	"{PMID:Fernandes 2010:220854095}"	"mosaic"	"M"	""	""	""	"0"	""	""	""	"Pt 6"
"00233962"	""	""	""	"1"	""	"00577"	"{PMID:Fernandes 2010:220854095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 3"
"00233963"	""	""	""	"1"	""	"00577"	"{PMID:Fernandes 2010:20854095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 4"
"00233964"	""	""	""	"1"	""	"00577"	""	""	"F"	""	""	""	"0"	""	""	""	"Pt 5"
"00233965"	""	""	""	"1"	""	"00577"	"{PMID:Fernandes 2010:20854095}"	"mosaic"	"F"	""	""	""	"0"	""	""	""	"Pt 7"
"00233966"	""	""	""	"1"	""	"00577"	"{PMID:Fernandes 2010:20854095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 8"
"00233967"	""	""	""	"1"	""	"00577"	"{PMID:Fernandes 2010:20854095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 9"
"00233968"	""	""	""	"1"	""	"02310"	"{PMID:Fernandes 2010:20854095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 10"
"00233969"	""	""	""	"1"	""	"02310"	"{PMID:Fernandes 2010:20854095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 11"
"00233970"	""	""	""	"1"	""	"02310"	"{PMID:Fernandes 2010:20854095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 12"
"00233971"	""	""	""	"1"	""	"00577"	"{PMID:Fernandes 2010:20554095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 13"
"00233972"	""	""	""	"1"	""	"00577"	"{PMID:Fernandes et. 2010:20854095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 14"
"00233973"	""	""	""	"1"	""	"00577"	"{PMID:Fernandes etal. 2010:20854095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 15"
"00233974"	""	""	""	"1"	""	"00577"	"{PMID:Fernandes etal. 2010:20854095}"	"mosaic"	"M"	""	""	""	"0"	""	""	""	"Pt 16"
"00233975"	""	""	""	"1"	""	"00577"	"{PMID:Fernandes etal. 2010:20854095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 17"
"00233976"	""	""	""	"1"	""	"00577"	"{PMID:Fernandes etal. 2010:20854095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 18"
"00233977"	""	""	""	"1"	""	"00577"	"{PMID:Fernandes 2010:20854095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 19"
"00233978"	""	""	""	"1"	""	"00577"	"{PMID:Fernandes 2010:20854095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 20"
"00233979"	""	""	""	"1"	""	"00577"	"{PMID:Fernandes 2010:20854095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 21"
"00233980"	""	""	""	"1"	""	"00577"	"{PMID:Fernandes 2010:20854095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 22"
"00233981"	""	""	""	"1"	""	"00577"	"{PMID:Fernandes 2010:20854095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 23"
"00233982"	""	""	""	"1"	""	"00577"	"{PMID:Fernandes 2010:20854095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 24"
"00233983"	""	""	""	"1"	""	"02310"	"{PMID:Fernandes 2010:20854095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 25"
"00233984"	""	""	""	"1"	""	"00577"	"{PMID:Fernandes 2010:20854095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 26"
"00233985"	""	""	""	"1"	""	"00577"	"{PMID:Fernandes 2010:20854095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 27"
"00233986"	""	""	""	"1"	""	"02310"	"{PMID:Maalouf 2012:22250236}"	"FDH with unilateral (left) presentation"	"F"	""	"Lebanon"	""	"0"	""	""	""	"case report"
"00233987"	""	""	""	"1"	""	"02310"	"{PMID:Kapoor 2012:21732017}"	"11 y old girl"	"F"	""	"India"	""	"0"	""	""	"Indian"	"case report"
"00233988"	""	""	""	"1"	""	"02310"	"{PMID:Yoshihashi 2010:21133992}"	"mosaic"	"M"	""	"Japan"	""	"0"	""	""	"Japan"	"case report"
"00233989"	""	""	""	"1"	""	"00577"	"{PMID:Fernandes 2010:20854095}"	""	"F"	""	""	""	"0"	""	""	""	"Pt 28"
"00233990"	""	""	""	"1"	""	"00577"	"unpublished"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00233991"	""	""	""	"1"	""	"00577"	"unpublished"	"foetus of AMC_13"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00233992"	""	""	""	"1"	""	"03283"	"unpublished"	""	"F"	""	"Poland"	""	"0"	""	""	"white"	""
"00233993"	""	""	""	"1"	""	"03283"	"unpublished"	""	"F"	""	"Poland"	""	"0"	""	""	"white"	""
"00233994"	""	""	""	"1"	""	"02310"	"unpublished"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00233995"	""	""	""	"1"	""	"02310"	"unpublished"	""	"F"	""	"France"	""	"0"	""	""	""	""
"00233996"	""	""	""	"1"	""	"02310"	"unpublished"	""	"F"	""	"Italy"	""	"0"	""	""	"white"	""
"00233997"	""	""	""	"1"	""	"02310"	"unpublished"	""	"F"	""	""	""	"0"	""	""	""	""
"00233998"	""	""	""	"1"	""	"02310"	"{PMID:Contreras-Capetillo et al., 2013:24357603}"	"daghter of AMC_22"	"F"	""	"Mexico"	""	"0"	""	""	""	""
"00233999"	""	""	""	"1"	""	"02310"	"{PMID:Contreras-Capetillo et al., 2013:24357603}"	"mother of AMC_21"	"F"	""	"Mexico"	""	"0"	""	""	""	""
"00234000"	""	""	""	"1"	""	"00577"	"unpublished"	"mosaic"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00234001"	""	""	""	"1"	""	"00577"	"unpublished"	"mosaic"	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00234002"	""	""	""	"1"	""	"00577"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00234003"	""	""	""	"1"	""	"00577"	"unpublished"	""	"F"	""	"Iceland"	""	"0"	""	""	""	""
"00234004"	""	""	""	"1"	""	"00577"	"unpublished"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00234005"	""	""	""	"1"	""	"00577"	"{PMID:Asano 2012:22735390}"	""	"F"	""	"Japan"	""	"0"	""	""	""	"case report"
"00234006"	""	""	""	"2"	""	"00577"	"{PMID:Patrizi 2012:22414489}"	""	"F"	""	"Italy"	""	"0"	""	""	"white"	"case report"
"00234007"	""	""	""	"1"	""	"03284"	"{PMID:Peters 2014:24387693}"	""	"M"	""	"Nigeria"	""	"0"	""	""	"Nigerian"	""
"00234008"	""	""	""	"1"	""	"00577"	"{PMID:Garavelli 2013:23696273}"	""	"F"	""	"Italy"	""	"0"	""	""	"white"	"case report"
"00234009"	""	""	""	"1"	""	"00577"	"not published"	"mosaic, mild phenotype"	"M"	""	"Sweden"	""	"0"	""	""	""	""
"00234010"	""	""	""	"1"	""	"00577"	"not published"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00234011"	""	""	""	"1"	""	"00577"	"{PMID:Nakanishi 2013:23399492}"	"typical cutaneous symptoms and skeletal abnomalities"	"F"	""	"Japan"	""	"0"	""	""	"Japan"	"case 1"
"00234012"	""	""	""	"1"	""	"00577"	"{PMID:Nakanishi 2013:23399492}"	"mosaic"	"F"	""	"Japan"	""	"0"	""	""	"Japan"	"case 2"
"00234013"	""	""	""	"1"	""	"00577"	"{PMID:Sellars 2013:23943565}"	"mosaic"	"F"	""	"United States"	""	"0"	""	""	""	"case 1"
"00234014"	""	""	""	"1"	""	"00577"	"{PMID:Sellars 2013:23943565}"	"Prenatal diagnosis of Goltz-Gorlin Syndrome at 11 3/7 weeks by first trimester ultrasound analysis"	"F"	""	"United States"	""	"0"	""	""	""	"case 2"
"00234015"	""	""	""	"1"	""	"00577"	"{PMID:Alkindi et al., 2012:23131169}"	"47 XXY, Kleinfelter syndrome, male with a non-mosaic heterozygous mutation"	"M"	""	"New Zealand"	""	"0"	""	""	""	"case 1"
"00235328"	""	""	""	"1"	""	"00577"	""	""	"M"	"?"	"Turkey"	""	"0"	""	""	""	""
"00235338"	""	""	""	"1"	""	"00577"	""	"mother and sister affected"	"F"	""	"Australia"	">25y"	"0"	""	""	""	""
"00235388"	""	""	""	"1"	""	"00577"	"{PMID:Severino-Freire 2017:28293688}"	""	"F"	""	"France"	">09y"	"0"	""	""	""	"AMC_59"
"00238981"	""	""	""	"1"	""	"00577"	"{PMID:Young et al, 2014:24698628}"	""	"M"	""	"United States"	">00y18m"	"0"	""	""	""	""
"00238982"	""	""	""	"1"	""	"00577"	"{PMID:Arias-Llorente et al, 2015:26470739}"	""	"F"	"no"	"Spain"	""	"0"	""	""	""	""
"00238983"	""	""	""	"1"	""	"00577"	"{PMID:Ramirez-Botero et al., 2016:26603014}"	""	"F"	""	"Colombia"	">08y"	"0"	""	""	""	""
"00239099"	""	""	""	"1"	""	"00577"	"{PMID:Bostwick et al, 2016:26853229}"	""	"F"	""	"United States"	""	"0"	""	""	""	"GS-1"
"00239104"	""	""	""	"1"	""	"00577"	"{PMID:Bostwick 2016:26853229}"	""	"F"	""	"United States"	""	"0"	""	""	""	"GS-2"
"00239161"	""	""	""	"1"	""	"00577"	"{PMID:Bostwick et al, 2016 :26853229}"	""	"F"	""	"United States"	""	"0"	""	""	""	"GS-3"
"00239164"	""	""	""	"1"	""	"00577"	"{PMID:Bostwick et al, 2016:26853229}"	""	"F"	""	"United States"	""	"0"	""	""	""	"GS-4"
"00239174"	""	""	""	"1"	""	"00577"	"{PMID:Bostwick et al, 2016 :26853229}"	""	"M"	""	"United States"	""	"0"	""	""	""	"GS-5"
"00239175"	""	""	""	"1"	""	"00577"	"{PMID:Bostwick et al, 2016:26853229}"	""	"F"	""	"United States"	""	"0"	""	""	""	"GS-6"
"00239176"	""	""	""	"1"	""	"00577"	"{PMID:Bostwick et al, 2016: 26853229}"	""	"F"	""	"United States"	""	"0"	""	""	""	"GS-7"
"00239177"	""	""	""	"1"	""	"00577"	"{PMID:Bostwick et al, 2016 : 26853229}"	""	"F"	""	"United States"	""	"0"	""	""	""	"GS-8"
"00239178"	""	""	""	"1"	""	"00577"	"{PMID:Bostwick et al, 2016:26853229}"	""	"F"	""	"United States"	""	"0"	""	""	""	"GS-9"
"00239179"	""	""	""	"1"	""	"00577"	"{PMID:Bostwick et al, 2016 :26853229}"	""	"F"	""	"United States"	""	"0"	""	""	""	"GS-10"
"00239180"	""	""	""	"1"	""	"00577"	"{PMID:Bostwick et al, 2016 :26853229}"	""	"F"	""	"United States"	""	"0"	""	""	""	"GS-11"
"00239181"	""	""	""	"1"	""	"00577"	"{PMID:Bostwick et al, 2016 :26853229}"	""	"F"	""	"United States"	""	"0"	""	""	""	"GS-12"
"00239182"	""	""	""	"1"	""	"00577"	"{PMID:Bostwick et al, 2016 :26853229}"	""	"M"	""	"United States"	""	"0"	""	""	""	"GS-15"
"00239183"	""	""	""	"1"	""	"00577"	"{PMID:Bostwick et al, 2016 :26853229}"	""	"F"	""	"United States"	""	"0"	""	""	""	"GS-13"
"00239185"	""	""	""	"1"	""	"00577"	"{PMID:Rao SS. et al, 2016:27904205}"	"mosaic"	"M"	"no"	"(India)"	">00y10m"	"0"	""	""	""	"case report"
"00239615"	""	""	""	"1"	""	"00577"	"{PMID:Madan et al, 2017:28626639}"	""	"M"	""	"United States"	">08y"	"0"	""	""	"African-American"	"case report"
"00240146"	""	""	""	"1"	""	"00577"	"{PMID:Stevenson et al., 2014:2504319}"	""	"M"	""	""	""	"0"	""	""	""	""
"00240227"	""	""	""	"1"	""	"00577"	"{PMID:Durmaz et al., 2018:29525789}"	""	"F"	""	"Turkey"	">29y"	"0"	""	""	""	"case report"
"00240228"	""	""	""	"1"	""	"00577"	"{PMID:Frisk et al., 2018:30455901}"	""	"M"	""	"China"	">03y"	"0"	""	""	""	"case report"
"00240332"	""	""	""	"1"	""	"00577"	""	""	"F"	""	"Iran"	""	"0"	""	""	""	"AMC-35"
"00240339"	""	""	""	"1"	""	"00577"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"AMC-58"
"00240340"	""	""	""	"1"	""	"00577"	""	""	"F"	""	"Denmark"	">13y"	"0"	""	""	""	"AMC-36"
"00240345"	""	""	""	"1"	""	"00577"	""	""	"F"	""	"Netherlands"	""	"0"	""	""	""	"AMC-37"
"00240416"	""	""	""	"1"	""	"00577"	""	""	"F"	""	"Australia"	">29y"	"0"	""	""	""	"FF139090"
"00248390"	""	""	""	"1"	""	"00577"	"{PMID:Aarabi 2018:29392406}"	"Pregnancy terminated at 14 weeks of gestation"	"F"	""	"United States"	""	"0"	""	""	""	"PN19 (case 4)"
"00248394"	""	""	""	"1"	""	"00577"	"{PMID:Mary 2016:27623003}"	"Pregnancy interrupted between 22 and 34 GW, because of the lethality of the malformations."	"F"	"no"	"France"	""	"0"	""	""	""	"Fetus 1"
"00248395"	""	""	""	"1"	""	"00577"	"{PMID:Mary 2016:27623003}"	"Pregnancy interrupted between 22 and 34 GW, because of the lethality of the malformations."	"F"	"no"	"France"	""	"0"	""	""	""	"Fetus 2"
"00248397"	""	""	""	"1"	""	"00577"	"{PMID:Mary 2016:27623003 }"	"Pregnancy interrupted between 22 and 34 GW, because of the lethality of the malformations."	"F"	""	"France"	""	"0"	""	""	""	"Fetus 3"
"00248469"	""	""	""	"1"	""	"00577"	""	""	"F"	""	"Australia"	""	"0"	""	""	""	"AMC_39"
"00248470"	""	""	""	"1"	""	"00577"	""	""	"F"	"?"	"Poland"	">19y"	"0"	""	""	""	"AMC_40"
"00248488"	""	""	""	"1"	""	"00577"	""	""	"F"	"no"	"France"	""	"0"	""	""	""	"AMC_41"
"00248509"	""	""	""	"1"	""	"00577"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"AMC_44"
"00248527"	""	""	""	"1"	""	"00577"	""	""	"F"	""	"Norway"	""	"0"	""	""	""	"AMC_45"
"00248529"	""	""	""	"1"	""	"00577"	""	""	"F"	""	"Scotland"	""	"0"	""	""	""	"AMC_46"
"00248531"	""	""	""	"1"	""	"00577"	""	""	"F"	""	"Sweden"	""	"0"	""	""	""	"AMC_48"
"00248532"	""	""	""	"1"	""	"00577"	""	""	"F"	"no"	"Suriname"	">03y"	"0"	""	""	""	"AMC_49"
"00248535"	""	""	""	"1"	""	"00577"	""	""	"F"	""	"Switzerland"	""	"0"	""	""	""	"AMC_60"
"00248537"	""	""	""	"1"	""	"00577"	"{DB:CLN}"	""	"F"	""	"Australia"	""	"0"	""	""	""	"AMC_50"
"00248542"	""	""	""	"1"	""	"00577"	""	""	"F"	""	"France"	""	"0"	""	""	""	"AMC_52"
"00248851"	""	""	""	"1"	""	"00577"	""	""	"F"	""	"Sweden"	">29y"	"0"	""	""	""	"AMC_51"
"00248852"	""	""	""	"1"	""	"00577"	""	""	""	""	"France"	">50y"	"0"	""	""	""	"AMC_53"
"00374119"	""	""	""	"1"	""	"00006"	"{PMID:Lefebvre 2021:32732226}"	"fetus"	"F"	""	"France"	""	"0"	""	""	""	""
"00382093"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2019:30653986}"	""	"?"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"294"
"00387674"	""	""	""	"1"	""	"00000"	"{PMID:Zanolli 2020:32141364}"	"individual ID not present in paper, consecutive numbers given"	"?"	""	"Chile"	""	"0"	""	""	""	"73"
"00410587"	""	""	""	"1"	""	"00006"	"{PMID:Schuermans 2022:35606766}"	"analysis 329 adult patients suffering from undiagnosed rare disease"	"F"	""	"Belgium"	""	"0"	""	""	""	"Pat49"
"00467777"	""	""	""	"1"	""	"00006"	"{PMID:Charng 2016:27435318}"	"2-generation family, 1 affected, unaffected non-carrier parents"	""	"no"	"Saudi Arabia"	""	"0"	""	""	""	"Fam010PatBAB6697"
"00469246"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 229
"{{individualid}}"	"{{diseaseid}}"
"00000208"	"01157"
"00000209"	"01157"
"00004220"	"00298"
"00004221"	"00298"
"00004223"	"00298"
"00004224"	"00298"
"00004225"	"00000"
"00132797"	"00198"
"00132798"	"00198"
"00163778"	"00944"
"00231005"	"01768"
"00231006"	"00298"
"00233852"	"00298"
"00233853"	"00298"
"00233854"	"00298"
"00233855"	"00298"
"00233856"	"00298"
"00233857"	"00298"
"00233858"	"00298"
"00233859"	"00298"
"00233860"	"00298"
"00233861"	"00298"
"00233862"	"00298"
"00233863"	"00298"
"00233864"	"00298"
"00233865"	"00298"
"00233866"	"00298"
"00233867"	"00298"
"00233868"	"00298"
"00233869"	"00298"
"00233870"	"00298"
"00233871"	"00298"
"00233872"	"00298"
"00233873"	"00298"
"00233874"	"00298"
"00233875"	"00298"
"00233876"	"00298"
"00233877"	"00298"
"00233878"	"00298"
"00233879"	"00298"
"00233880"	"00298"
"00233881"	"00298"
"00233882"	"00298"
"00233883"	"00298"
"00233884"	"00298"
"00233885"	"00298"
"00233886"	"00298"
"00233887"	"00298"
"00233888"	"00298"
"00233889"	"00298"
"00233890"	"00298"
"00233891"	"00298"
"00233892"	"00298"
"00233893"	"00298"
"00233894"	"00298"
"00233895"	"00298"
"00233896"	"00298"
"00233897"	"00298"
"00233898"	"00298"
"00233899"	"00298"
"00233900"	"00298"
"00233901"	"00298"
"00233902"	"00298"
"00233903"	"00298"
"00233904"	"00298"
"00233905"	"00298"
"00233906"	"00298"
"00233907"	"00298"
"00233908"	"00298"
"00233909"	"00298"
"00233910"	"00298"
"00233911"	"00298"
"00233912"	"00298"
"00233913"	"00298"
"00233914"	"00298"
"00233915"	"00298"
"00233916"	"00298"
"00233917"	"00298"
"00233918"	"00298"
"00233919"	"00298"
"00233920"	"00298"
"00233921"	"00298"
"00233922"	"00298"
"00233923"	"00298"
"00233924"	"00298"
"00233925"	"00298"
"00233926"	"00298"
"00233927"	"00298"
"00233928"	"00298"
"00233929"	"00298"
"00233930"	"00298"
"00233931"	"00298"
"00233932"	"00298"
"00233933"	"00298"
"00233934"	"00298"
"00233935"	"00298"
"00233936"	"00298"
"00233937"	"00298"
"00233938"	"00298"
"00233939"	"00298"
"00233940"	"00298"
"00233941"	"00298"
"00233942"	"00298"
"00233943"	"00298"
"00233944"	"00298"
"00233945"	"00298"
"00233946"	"00298"
"00233947"	"00298"
"00233948"	"00298"
"00233949"	"00298"
"00233950"	"00298"
"00233951"	"00298"
"00233952"	"00298"
"00233953"	"00298"
"00233954"	"00298"
"00233955"	"00298"
"00233956"	"00298"
"00233957"	"00298"
"00233958"	"00298"
"00233959"	"00298"
"00233960"	"00298"
"00233961"	"00298"
"00233962"	"00298"
"00233963"	"00298"
"00233964"	"00298"
"00233965"	"00298"
"00233966"	"00298"
"00233967"	"00298"
"00233968"	"00298"
"00233969"	"00298"
"00233970"	"00298"
"00233971"	"00298"
"00233972"	"00298"
"00233973"	"00298"
"00233974"	"00298"
"00233975"	"00298"
"00233976"	"00298"
"00233977"	"00298"
"00233978"	"00298"
"00233979"	"00298"
"00233980"	"00298"
"00233981"	"00298"
"00233982"	"00298"
"00233983"	"00298"
"00233984"	"00298"
"00233985"	"00298"
"00233986"	"00298"
"00233987"	"00298"
"00233988"	"00298"
"00233989"	"00298"
"00233990"	"00298"
"00233991"	"00298"
"00233992"	"00298"
"00233993"	"00298"
"00233994"	"00298"
"00233995"	"00298"
"00233996"	"00298"
"00233997"	"00298"
"00233998"	"00298"
"00233999"	"00298"
"00234000"	"00298"
"00234001"	"00298"
"00234002"	"00298"
"00234003"	"00298"
"00234004"	"00298"
"00234005"	"00298"
"00234006"	"00298"
"00234007"	"00298"
"00234008"	"00298"
"00234009"	"00298"
"00234010"	"00298"
"00234011"	"00298"
"00234012"	"00298"
"00234013"	"00298"
"00234014"	"00298"
"00234015"	"00298"
"00235328"	"00298"
"00235338"	"00298"
"00235388"	"00298"
"00238981"	"00298"
"00238982"	"00298"
"00238983"	"00298"
"00239099"	"00298"
"00239104"	"00298"
"00239161"	"00298"
"00239164"	"00298"
"00239174"	"00298"
"00239175"	"00298"
"00239176"	"00298"
"00239177"	"00298"
"00239178"	"00298"
"00239179"	"00298"
"00239180"	"00298"
"00239181"	"00298"
"00239182"	"00298"
"00239183"	"00298"
"00239185"	"00298"
"00239615"	"00298"
"00240146"	"00298"
"00240227"	"00298"
"00240228"	"00298"
"00240332"	"00298"
"00240339"	"00298"
"00240340"	"00298"
"00240345"	"00298"
"00240416"	"00298"
"00248390"	"00298"
"00248394"	"00298"
"00248395"	"00298"
"00248397"	"00298"
"00248469"	"00298"
"00248470"	"00298"
"00248488"	"00298"
"00248509"	"00298"
"00248527"	"00298"
"00248529"	"00298"
"00248531"	"00298"
"00248532"	"00298"
"00248535"	"00298"
"00248537"	"00298"
"00248542"	"00298"
"00248851"	"00298"
"00248852"	"00298"
"00374119"	"00198"
"00382093"	"00298"
"00387674"	"04214"
"00410587"	"00198"
"00467777"	"05611"
"00469246"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00298, 00944, 01157, 01768, 04214, 05611
## Count = 228
"{{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}}"
"0000003016"	"00298"	"00004220"	"00574"	"Familial, X-linked dominant"	"00y00m"	"microphthalmia; coloboma of the retina; left-sided posterolateral diaphragmatic hernia; atrial septal defect (ASD); deceased day 0."	""	""	""	""	""	""	""	""	""	""	""
"0000003017"	"00298"	"00004221"	"00574"	"Familial, X-linked dominant"	"00y00m"	"bilateral microphthalmia; dense intra-ocular tissue; large thoraco-lumbar spina bifida; hydronephrosis of left kidney; hypospadias; disarrayed toes; deceased day 10 due to respiratory insufficiency."	""	""	""	""	""	""	""	""	""	""	""
"0000003018"	"00298"	"00004223"	"00574"	"Familial, X-linked dominant"	"07y?"	"cutis aplasia of the scalp"	""	""	""	""	""	""	""	""	""	""	""
"0000003019"	"00298"	"00004224"	"00574"	"Familial, X-linked dominant"	"05y?"	"normal; no phenotypic features"	""	""	""	""	""	""	""	""	""	""	""
"0000038983"	"01157"	"00000208"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)"	""	"3w"	""	""	""	""	""	""	""	""	""
"0000038984"	"01157"	"00000209"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)"	""	"07y04m"	""	""	""	""	""	""	""	""	""
"0000117252"	"00198"	"00132797"	"02308"	"Familial, X-linked recessive"	""	"microphthalmia (0000568) right sided, hypospadias (0000047), no skin defects, feeding difficulties in infancy (0008872), mild LD"	""	""	""	""	""	""	""	""	""	"Lenz syndrome"	""
"0000117253"	"00198"	"00132798"	"02308"	"Familial, X-linked recessive"	""	"bilateral microphthalmia (0007633), severe LD, schizophrenia (HP:0100753), unusual thumbs (HP:0001172), dental anomalies (HP:0000164)"	""	""	""	""	""	""	""	""	""	"Lenz syndrome"	""
"0000128936"	"00944"	"00163778"	"01741"	"Unknown"	""	"foca dermal hypoplasia (Goltz-Gorlin- oder Goltz-Syndrom)"	""	""	""	""	""	""	""	""	""	""	""
"0000173487"	"01768"	"00231005"	"01962"	"Isolated (sporadic)"	""	"split foot, polydactyly, Microphthalmia, cryptorchidism, global developmental delay"	""	""	""	""	""	""	""	""	"split-hand/foot malformation"	"split-hand/foot malformation"	""
"0000173488"	"00198"	"00231006"	"01962"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"split-hand/foot malformation"	"split-hand/foot malformation"	""
"0000173489"	"00298"	"00231006"	"01962"	"Isolated (sporadic)"	""	"Hyperpigmentation, nodular fat herniation, ridged dysplastic nails, dental malformations"	""	""	""	""	""	""	""	""	""	""	""
"0000174274"	"00298"	"00233852"	"00577"	"Isolated (sporadic)"	""	"no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no ectrodactyly (-HP:0100257), no oligodactyly (-HP:0012165); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); microcephaly (HP:0000252); no mental retardation (-HP:0001249);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174275"	"00298"	"00233853"	"00577"	"Isolated (sporadic)"	""	"dental defects; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features; microcephaly (HP:0000252); mental retardation (HP:0001249);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174276"	"00298"	"00233854"	"00577"	"Isolated (sporadic)"	""	"camptodactyly, R preauricular appendage, umbilical hernia, low set ears, aniridia, glaucoma, thorax deformation, gastro esophageal reflux, large clitoris, hypoplastic labia; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210); mental retardation (HP:0001249); IUGR (HP:0001511)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174277"	"00298"	"00233855"	"00577"	"Isolated (sporadic)"	""	"developmental delay, yes; skin hypoplasia (HP:0008065), fat herniation (HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257); microcephaly (HP:0000252);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174278"	"00298"	"00233856"	"00577"	"Unknown"	""	"lower limb hypoplasia, osteoporosis, ostheoarthritis, hearing loss, strabismus, giant cell tumour of bone; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), ectrodactyly (HP:0100257); oligodontia (HP:0000677); hypohidrosis (HP:0000966)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174279"	"00298"	"00233857"	"00577"	"Unknown"	""	"short stature, one abortion, due to limb defects, 5 spontaneous; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); no syndactyly (-HP:0001159); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); no omphalocele (-HP:0001539), no IUGR (-HP:0001511)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174280"	"00298"	"00233858"	"00577"	"Familial"	""	"hypoplastic R thumb, rudimentary preaxial polydactyly R, preauricular appendages, hypoplastic labia; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), polydactyly (HP:0010442); no oligodontia (-HP:0000677), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); microcephaly (HP:0000252); heart defect (HP:0001627); no omphalocele (-HP:0001539), no IUGR (-HP:0001511)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174281"	"00298"	"00233859"	"00577"	"Familial"	""	"patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441); syndactyly (HP:0001159); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174282"	"00298"	"00233860"	"00577"	"Isolated (sporadic)"	""	"nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159); microphthalmia (HP:0000568), coloboma (HP:0000589); mental retardation (HP:0001249);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174283"	"00298"	"00233861"	"00577"	"Isolated (sporadic)"	""	"clino-campodactyly R 5th finger, dental defects, strabismus, hypermetropia, asymmetric face, bulbous nasal tip, dorsal lymphedema of feet in infancy, single transverse crease on R palm; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), fat herniation (HP:0008441), papilloma periorally (HP:0040167); no syndactyly (-HP:0001159); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), tear duct obstruction (HP:0000579); microcephaly (HP:0000252); heart defect (HP:0001627); mental retardation (HP:0001249); omphalocele (HP:0001539), no IUGR (-HP:0001511)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174284"	"00298"	"00233862"	"00577"	"Isolated (sporadic)"	""	"dental defects, esophageal papillomas; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features; osteopathia striata (HP:001074)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174285"	"00298"	"00233863"	"00577"	"Unknown"	""	"Blashkolinear pigmentation, costovertebral dyssegmentation, diastasis pubis; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); ectrodactyly (HP:0100257); microphthalmia (HP:0000568); microcephaly (HP:0000252); mental retardation (HP:0001249);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174286"	"00298"	"00233864"	"00577"	"Isolated (sporadic)"	""	"dental defects; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features;"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174287"	"00298"	"00233865"	"00577"	"Isolated (sporadic)"	""	"coloboma iris and choroidea; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no heart defect (-HP:0001627); omphalocele (HP:0001539), no IUGR (-HP:0001511)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174288"	"00298"	"00233866"	"00577"	"Isolated (sporadic)"	""	"dental defects, clinodactily; skin hypoplasia (HP:0008065); oligodactyly (HP:0012165); has oral features; microcephaly (HP:0000252);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174289"	"00298"	"00233867"	"00577"	"Isolated (sporadic)"	""	"hyperhidrosis, bicuspid aortic valve, renal reflux ; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), polydactyly (HP:0010442); oligodontia (HP:0000677), enamel hypoplasia (HP:0006297), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); microcephaly (HP:0000252); heart defect (HP:0001627), displaced anus (HP:0004397); no nipple hypoplasia in adults (-HP:0002557), no mammary hypoplasia in adults (-HP:0003187), caudal appendage (HP:0002825), acral abnormalities, occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174290"	"00298"	"00233868"	"00577"	"Isolated (sporadic)"	""	"skin hypoplasia (HP:0008065); syndactyly (HP:0001159), ectrodactyly (HP:0100257);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174291"	"00298"	"00233869"	"00577"	"Isolated (sporadic)"	""	"dental defects, esophageal papillomas; skin hypoplasia (HP:0008065), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159); has oral features;"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174292"	"00298"	"00233870"	"00577"	"Isolated (sporadic)"	""	"skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); mental retardation (HP:0001249); osteopathia striata (HP:001074)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174293"	"00298"	"00233871"	"00577"	"Isolated (sporadic)"	""	"unilateral hexadactyly; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174294"	"00298"	"00233872"	"00577"	"Isolated (sporadic)"	""	"sacral dimple; patchy alopecia (HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), ; no kidney malformation (-HP:0012210), no hydronephrosis (-HP:0000126), ND;"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174295"	"00298"	"00233873"	"00577"	"Isolated (sporadic)"	""	"aniridia, R nipple absent, deformities of ribs; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257); cleft lip/palate (HP:0000202); microphthalmia (HP:0000568); no kidney malformation (-HP:0012210);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174296"	"00298"	"00233874"	"00577"	"Isolated (sporadic)"	""	"dental defects, anophthalmia, hearing loss; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); has oral features; significantly decreased vision (HP:0000572), microphthalmia (HP:0000568);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174297"	"00298"	"00233875"	"00577"	"Isolated (sporadic)"	""	"syringocystadenoma papilliferum, blashkolinear streaks of dermal hyperpigmentation, telangiectasias, hyperpigmented macules, soft yellow nodules; skin hypoplasia (HP:0008065); skeletal defects (HP:0011842); has oral features; eye anomalies (HP:0000478);"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia, syringocystadenoma papilliferum"	""
"0000174298"	"00298"	"00233876"	"00577"	"Unknown"	""	"coloboma R iris; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), polydactyly (HP:0010442); no oligodontia (-HP:0000677), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no heart defect (-HP:0001627);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174299"	"00298"	"00233877"	"00577"	"Isolated (sporadic)"	""	"bilateral blindness, hearing loss, facial cleft, absence deformities of bones, brain defects; skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), skeletal defects (HP:0011842); cleft lip/palate (HP:0000202); significantly decreased vision (HP:0000572); microcephaly (HP:0000252); mental retardation (HP:0001249); omphalocele (HP:0001539)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174300"	"00298"	"00233878"	"00577"	"Isolated (sporadic)"	""	"diastasis pubis, costovertebral dyssegmentation; skin hypoplasia (HP:0008065); syndactyly (HP:0001159); microphthalmia (HP:0000568);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174301"	"00298"	"00233879"	"00577"	"Isolated (sporadic)"	""	"dental defects; skin hypoplasia (HP:0008065); syndactyly (HP:0001159); has oral features; coloboma (HP:0000589);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174302"	"00298"	"00233880"	"00577"	"Isolated (sporadic)"	""	"optic atrophy; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210), hydronephrosis (HP:0000126), displaced anus (HP:0004397);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174303"	"00298"	"00233881"	"00577"	"Isolated (sporadic)"	""	"ala nasi coloboma, 2 ear tags, ASD; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589); hydronephrosis (HP:0000126), heart defect (HP:0001627); occipitofrontal circumference less than P3-P10 (HP:0040195), no caudal appendage (-HP:0002825), acral abnormalities"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174304"	"00298"	"00233882"	"00577"	"Unknown"	""	"unilateral absent clavicle, breast cancer in underdeveloped mamma; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), papilloma periorally (HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference less than P3-P10 (HP:0040195), nipple hypoplasia in adults (HP:0002557), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174305"	"00298"	"00233883"	"00577"	"Familial"	""	"R leg shorter, Lymphedema, teleangiectasia, fibroma, bony cyst of fibula; patchy alopecia (HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); hydronephrosis (HP:0000126), no heart defect (-HP:0001627); no omphalocele (-HP:0001539), no IUGR (-HP:0001511)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174306"	"00298"	"00233884"	"00577"	"Unknown"	""	"unilateral ptosis, midline skin hypoplasia trunc, hearing loss, ala nasi coloboma, irregular vermillion ; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165), skeletal defects (HP:0011842); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), yes; thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589), tear duct obstruction (HP:0000579); occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), no mammary hypoplasia in adults (-HP:0003187), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174307"	"00298"	"00233885"	"00577"	"Isolated (sporadic)"	""	"skin hypoplasia (HP:0008065), fat herniation (HP:0008441); microphthalmia (HP:0000568); mental retardation (HP:0001249);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174308"	"00298"	"00233886"	"00577"	"Isolated (sporadic)"	""	"lymphedema legs; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); oligodontia (HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); major internal organs anomalies; occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), no mammary hypoplasia in adults (-HP:0003187), hypohidrosis (HP:0000966), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174309"	"00298"	"00233887"	"00577"	"Familial"	""	"midface hypoplasia; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); ectrodactyly (HP:0100257), skeletal defects (HP:0011842); oligodontia (HP:0000677), cleft lip/palate (HP:0000202); microphthalmia (HP:0000568), coloboma (HP:0000589); no mental retardation (-HP:0001249); occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174310"	"00298"	"00233888"	"00577"	"Isolated (sporadic)"	""	"horseshoe kidney, mitral valve prolapse; skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); microphthalmia (HP:0000568), coloboma (HP:0000589); major internal organs anomalies; omphalocele (HP:0001539)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174311"	"00298"	"00233889"	"00577"	"Isolated (sporadic)"	""	"dental defects; skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features;"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174312"	"00298"	"00233890"	"00577"	"Unknown"	""	"hypoplastic left heart, lethal outcome ; no patchy alopecia (-HP:0002232), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), coloboma (HP:0000589); no microcephaly (-HP:0000252); heart defect (HP:0001627); omphalocele (HP:0001539), IUGR (HP:0001511)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174313"	"00298"	"00233891"	"02310"	"Unknown"	""	"has additional features; skin phenotype; skeletal defects (HP:0011842); has oral features; thin protruding ear (HP:0000411); eye anomalies (HP:0000478);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174314"	"00298"	"00233892"	"00577"	"Unknown"	""	"Pentalogy of Cantrell, absence lower sternum, ectopia cordis, multiple limb malformations, anophtalmia (bilateral), agenesis corpus callosum, colpocephaly, unil. hear loss, bifid nose; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159);  , cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572); no heart defect (-HP:0001627), displaced anus (HP:0004397); mental retardation (HP:0001249);  omphalocele (HP:0001539), caudal appendage (HP:0002825), IUGR (HP:0001511)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174315"	"00298"	"00233893"	"00577"	"Isolated (sporadic)"	""	"nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no ectrodactyly (-HP:0100257), no oligodactyly (-HP:0012165);  no cleft lip/palate (-HP:0000202); no thin protruding ear (-HP:0000411); no microphthalmia (-HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no mental retardation (-HP:0001249);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174316"	"00298"	"00233894"	"00577"	"Isolated (sporadic)"	""	"hexadactyly; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165), skeletal defects (HP:0011842); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174317"	"00298"	"00233895"	"00577"	"Isolated (sporadic)"	""	"nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159); oligodontia (HP:0000677); coloboma (HP:0000589); no mental retardation (-HP:0001249);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174318"	"00298"	"00233896"	"00577"	"Isolated (sporadic)"	""	"patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); coloboma (HP:0000589);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174319"	"00298"	"00233897"	"00577"	"Unknown"	""	"mid facial hypoplasia; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), fat herniation (HP:0008441); syndactyly (HP:0001159), scoliosis (HP:0002650), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); thin protruding ear (HP:0000411); omphalocele (HP:0001539)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174320"	"00298"	"00233898"	"00577"	"Isolated (sporadic)"	""	"dental defects, caudal cord defects; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), skeletal defects (HP:0011842); cleft lip/palate (HP:0000202), yes; coloboma (HP:0000589); mental retardation (HP:0001249); omphalocele (HP:0001539)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174321"	"00298"	"00233899"	"00577"	"Isolated (sporadic)"	""	"no additional features; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174322"	"00298"	"00233900"	"00577"	"Isolated (sporadic)"	""	"ala nasi coloboma; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165), skeletal defects (HP:0011842); oligodontia (HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), coloboma (HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174323"	"00298"	"00233901"	"00577"	"Isolated (sporadic)"	""	"dental caries; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); syndactyly (HP:0001159); has oral features; osteopathia striata (HP:001074)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174324"	"00298"	"00233902"	"00577"	"Unknown"	""	"nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); no syndactyly (-HP:0001159), no ectrodactyly (-HP:0100257), no oligodactyly (-HP:0012165); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); no thin protruding ear (-HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); no mental retardation (-HP:0001249);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174325"	"00298"	"00233903"	"00577"	"Isolated (sporadic)"	""	"patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); osteopathia striata (HP:001074)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174326"	"00298"	"00233904"	"00577"	"Isolated (sporadic)"	""	"has additional features; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); mammary hypoplasia in adults (HP:0003187)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174327"	"00298"	"00233905"	"00577"	"Familial"	""	"hearing loss, thoracic wall abnormalities; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165); no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no caudal appendage (-HP:0002825), acral abnormalities"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174328"	"00298"	"00233906"	"00577"	"Familial"	""	"ectopia cordis, ala nasi coloboma, bilat renal agenesis, bilat fibula agenesis, anal atresia, diaphr hernia, butterfly T6, abdominal wall defect; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165), skeletal defects (HP:0011842); no cleft lip/palate (-HP:0000202); microphthalmia (HP:0000568); kidney malformation (HP:0012210), heart defect (HP:0001627); no caudal appendage (-HP:0002825), acral abnormalities"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174329"	"00298"	"00233907"	"00577"	"Unknown"	""	"nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), ectrodactyly (HP:0100257), oligodactyly (HP:0012165); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no mental retardation (-HP:0001249);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174330"	"00298"	"00233908"	"00577"	"Isolated (sporadic)"	""	"dental anomalies; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no fat herniation (-HP:0008441), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); no syndactyly (-HP:0001159), ectrodactyly (HP:0100257), skeletal defects (HP:0011842); has oral features; microphthalmia (HP:0000568), coloboma (HP:0000589); mental retardation (HP:0001249);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174331"	"00298"	"00233909"	"00577"	"Isolated (sporadic)"	""	"dental defects; skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); has oral features; coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210); osteopathia striata (HP:001074)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174332"	"00298"	"00233910"	"00577"	"Unknown"	""	"tooth anomalies, diastasis pubis; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257), skeletal defects (HP:0011842); has oral features; microphthalmia (HP:0000568), coloboma (HP:0000589);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174333"	"00298"	"00233911"	"00577"	"Familial"	""	"skin hypoplasia (HP:0008065), papilloma elsewhere (HP:0012740); ectrodactyly (HP:0100257); microphthalmia (HP:0000568), coloboma (HP:0000589); mental retardation (HP:0001249);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174334"	"00298"	"00233912"	"00577"	"Unknown"	""	"Blashkolinear pigmentation, tooth anomalies; skin hypoplasia (HP:0008065); ectrodactyly (HP:0100257); has oral features;"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174335"	"00298"	"00233913"	"00577"	"Isolated (sporadic)"	""	"nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174336"	"00298"	"00233914"	"00577"	"Isolated (sporadic)"	""	"Blashkolinear pigmentation; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159); no mental retardation (-HP:0001249); osteopathia striata (HP:001074)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174337"	"00298"	"00233915"	"00577"	"Familial"	""	"dental defects; skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); has oral features; coloboma (HP:0000589); microcephaly (HP:0000252);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174338"	"00298"	"00233916"	"00577"	"Isolated (sporadic)"	""	"dental defects, bilateral coloboma iris and retina, inguinal hernia, umbilical hernia, moderate hearing deficit, acute lymphatic leukemia, strabismus; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441), yes; syndactyly (HP:0001159), ectrodactyly (HP:0100257); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no heart defect (-HP:0001627); no mental retardation (-HP:0001249); IUGR (HP:0001511)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174339"	"00298"	"00233917"	"00577"	"Isolated (sporadic)"	""	"costovertebral dyssegmentation, distasis pubis; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), ectrodactyly (HP:0100257); microphthalmia (HP:0000568), coloboma (HP:0000589); no mental retardation (-HP:0001249); no osteopathia striata (-HP:001074)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174340"	"00298"	"00233918"	"00577"	"Isolated (sporadic)"	""	"patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165), skeletal defects (HP:0011842);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174341"	"00298"	"00233919"	"00577"	"Unknown"	""	"unilat extra nipple; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165), skeletal defects (HP:0011842); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference less than P3-P10 (HP:0040195), no nipple hypoplasia in adults (-HP:0002557), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174342"	"00298"	"00233920"	"00577"	"Isolated (sporadic)"	""	"bilateral anophtalmos split sternum, absent nail L 2nd finger, ; skin hypoplasia (HP:0008065); syndactyly (HP:0001159), scoliosis (HP:0002650), ectrodactyly (HP:0100257); oligodontia (HP:0000677), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568); mental retardation (HP:0001249);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174343"	"00298"	"00233921"	"00577"	"Isolated (sporadic)"	""	"dental anomalis; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no fat herniation (-HP:0008441), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), no ectrodactyly (-HP:0100257); has oral features; no microphthalmia (-HP:0000568), coloboma (HP:0000589); no mental retardation (-HP:0001249);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174344"	"00298"	"00233922"	"00577"	"Isolated (sporadic)"	""	"has additional features; skin hypoplasia (HP:0008065);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174345"	"00298"	"00233923"	"00577"	"Isolated (sporadic)"	""	"skin hypoplasia (HP:0008065); ectrodactyly (HP:0100257);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174346"	"00298"	"00233924"	"00577"	"Unknown"	""	"no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589); nipple hypoplasia in adults (HP:0002557), mammary hypoplasia in adults (HP:0003187), no caudal appendage (-HP:0002825), acral abnormalities"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174347"	"00298"	"00233925"	"00577"	"Isolated (sporadic)"	""	"hearing loss; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210); omphalocele (HP:0001539)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174348"	"00298"	"00233926"	"00577"	"Familial"	""	"abdominal wall defect+bladder ectopia, single umbilical artery, lateral displacement of pubic bones; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), fat herniation (HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257), oligodactyly (HP:0012165); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no heart defect (-HP:0001627); mental retardation (HP:0001249); IUGR (HP:0001511)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174349"	"00298"	"00233927"	"00577"	"Isolated (sporadic)"	""	"optic atrophy, dental defects, inguinal hernia, seizures; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features; microcephaly (HP:0000252);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174350"	"00298"	"00233928"	"00577"	"Unknown"	""	"clinodactyly, dental defects, asymmetric face; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); no heart defect (-HP:0001627), ND; no omphalocele (-HP:0001539), no IUGR (-HP:0001511), ND"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174351"	"00298"	"00233929"	"00577"	"Isolated (sporadic)"	""	"unilat aplasia fibula, dermal hypoplasia only lower limbs; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165), skeletal defects (HP:0011842); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202), yes; thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), ND; occipitofrontal circumference not less than P3-P10 (-HP:0040195), nipple hypoplasia in adults (HP:0002557), mammary hypoplasia in adults (HP:0003187), hypohidrosis (HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174352"	"00298"	"00233930"	"00577"	"Isolated (sporadic)"	""	"skin hypoplasia (HP:0008065); scoliosis (HP:0002650), oligodactyly (HP:0012165); cleft lip/palate (HP:0000202); coloboma (HP:0000589);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174353"	"00298"	"00233931"	"00577"	"Isolated (sporadic)"	""	"dental defects; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); has oral features;"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174354"	"00298"	"00233932"	"00577"	"Unknown"	""	"pulmonic atresia, atrial and ventricular septal defects,overriding aorta, umbilical hernia, low set ears, orbital cyst, brachycephaly, pachygyria, abnormal EEG, uterus and vaginal aplasia, lethal outcome ; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); heart defect (HP:0001627), ND; IUGR (HP:0001511)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174355"	"00298"	"00233933"	"00577"	"Isolated (sporadic)"	""	"sacral dimple; skin hypoplasia (HP:0008065); syndactyly (HP:0001159), polydactyly (HP:0010442), assymmetrical skeletal defects (HP:0011842);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174356"	"00298"	"00233934"	"00577"	"Isolated (sporadic)"	""	"hypoplastic thumbs, bladder extrophy, horshoe kidney, no periauricular appendages; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), fat herniation (HP:0008441); syndactyly (HP:0001159), polydactyly (HP:0010442), ectrodactyly (HP:0100257); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210), ND; mental retardation (HP:0001249); no omphalocele (-HP:0001539), height less than P3-P10 (HP:0004322), IUGR (HP:0001511)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174357"	"00298"	"00233935"	"00577"	"Unknown"	""	"telangiectasias; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165); oligodontia (HP:0000677), no enamel hypoplasia (-HP:0006297), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589), tear duct obstruction (HP:0000579); occipitofrontal circumference less than P3-P10 (HP:0040195), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), caudal appendage (HP:0002825), acral abnormalities"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174358"	"00298"	"00233936"	"00577"	"Unknown"	""	"has additional features; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), no enamel hypoplasia (-HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference less than P3-P10 (HP:0040195), no nipple hypoplasia in adults (-HP:0002557), mammary hypoplasia in adults (HP:0003187), hypohidrosis (HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174359"	"00298"	"00233937"	"00577"	"Familial"	""	"unilateral agenesis kidney,ectopia cordis, ala nasi coloboma, VSD, diaphr abnor, abdom wall defects, supracerebellar cyst; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); no polydactyly (-HP:0010442), oligodactyly (HP:0012165); cleft lip/palate (HP:0000202); microphthalmia (HP:0000568); occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174360"	"00298"	"00233938"	"00577"	"Familial"	""	"unilateral agenesis kdney, two ear tags, midline skin defect trunk; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); cleft lip/palate (HP:0000202); microphthalmia (HP:0000568); omphalocele (HP:0001539), occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322), acral abnormalities"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174361"	"00298"	"00233939"	"00577"	"Unknown"	""	"has additional features; skin phenotype; skeletal defects (HP:0011842); has oral features; thin protruding ear (HP:0000411); eye anomalies (HP:0000478);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174362"	"00298"	"00233940"	"00577"	"Isolated (sporadic)"	""	"dental defects; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features;"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174363"	"00298"	"00233941"	"00577"	"Isolated (sporadic)"	""	"nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165), skeletal defects (HP:0011842);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174364"	"00298"	"00233942"	"00577"	"Isolated (sporadic)"	""	"nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); mammary hypoplasia in adults (HP:0003187)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174365"	"00298"	"00233943"	"00577"	"Familial"	""	"skin hypoplasia (HP:0008065); oligodactyly (HP:0012165); eye anomalies (HP:0000478); omphalocele (HP:0001539)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174366"	"00298"	"00233944"	"00577"	"Familial"	""	"nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); mammary hypoplasia in adults (HP:0003187)"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174367"	"00298"	"00233945"	"00577"	"Familial"	""	"nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174368"	"00298"	"00233946"	"00577"	"Familial"	""	"tetralogy of Fallot; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); heart defect (HP:0001627);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174369"	"00298"	"00233947"	"00577"	"Unknown"	""	"lashkolinear pigmentation; skin hypoplasia (HP:0008065), fat herniation (HP:0008441); no syndactyly (-HP:0001159), ectrodactyly (HP:0100257);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174370"	"00298"	"00233948"	"00577"	"Isolated (sporadic)"	""	"lashkolinear pigmentation; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), ectrodactyly (HP:0100257); no oligodontia (-HP:0000677); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); no mental retardation (-HP:0001249);"	""	""	""	""	""	""	""	""	"FDH"	"Goltz-Gorlin syndrome"	""
"0000174371"	"00298"	"00233949"	"00577"	"Isolated (sporadic)"	""	"dental anomalies; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), no ectrodactyly (-HP:0100257); has oral features; no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no mental retardation (-HP:0001249);"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174372"	"00298"	"00233950"	"00577"	"Familial"	""	"vascular streaks along Blascko\'s lines, esophageal papillomas; no patchy alopecia (-HP:0002232), no skin hypoplasia (-HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441), papilloma elsewhere (HP:0012740); no syndactyly (-HP:0001159), scoliosis (HP:0002650), no polydactyly (-HP:0010442), no assymmetrical skeletal defects (-HP:0011842), no ectrodactyly (-HP:0100257), no oligodactyly (-HP:0012165); no oligodontia (-HP:0000677), no enamel hypoplasia (-HP:0006297), no cleft lip/palate (-HP:0000202); no thin protruding ear (-HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); no microcephaly (-HP:0000252); no kidney malformation (-HP:0012210), no hydronephrosis (-HP:0000126), no heart defect (-HP:0001627), no displaced anus (-HP:0004397); no mental retardation (-HP:0001249); no osteopathia striata (-HP:001074), no omphalocele (-HP:0001539), occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), no mammary hypoplasia in adults (-HP:0003187), no hypohidrosis (-HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), no IUGR (-HP:0001511)"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174373"	"00298"	"00233951"	"00577"	"Unknown"	""	"no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), no ectrodactyly (-HP:0100257), no oligodactyly (-HP:0012165); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); no thin protruding ear (-HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); no displaced anus (-HP:0004397); no mental retardation (-HP:0001249);"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174374"	"00298"	"00233952"	"00577"	"Unknown"	""	"hypopigmentation following Blasko lines, hypoplastic R clavicle, ptosis, blepharophimosis, large exomphalos; no nail dysplasia (-HP:0002164), no skin hypoplasia (-HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), ectrodactyly (HP:0100257), oligodactyly (HP:0012165); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), coloboma (HP:0000589), no tear duct obstruction (-HP:0000579); microcephaly (HP:0000252); displaced anus (HP:0004397); no mental retardation (-HP:0001249);"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174375"	"00298"	"00233953"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174376"	"00298"	"00233954"	"00577"	"Familial"	""	"mild phenotype; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no ectrodactyly (-HP:0100257), no oligodactyly (-HP:0012165); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); no heart defect (-HP:0001627); no mental retardation (-HP:0001249); no caudal appendage (-HP:0002825)"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174377"	"00298"	"00233955"	"00577"	"Unknown"	""	"lung anomalies, unilat clavicle hypoplasia, diaphragmatic hernia, natal teeth;   nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no scoliosis (-HP:0002650), no polydactyly (-HP:0010442), assymmetrical skeletal defects (HP:0011842), ectrodactyly (HP:0100257), oligodactyly (HP:0012165);  , no cleft lip/palate (-HP:0000202); no thin protruding ear (-HP:0000411);  microphthalmia (HP:0000568), ; microcephaly (HP:0000252); kidney malformation (HP:0012210), no hydronephrosis (-HP:0000126), no heart defect (-HP:0001627), no displaced anus (-HP:0004397); no osteopathia striata (-HP:001074), no omphalocele (-HP:0001539), occipitofrontal circumference less than P3-P10 (HP:0040195), caudal appendage (HP:0002825), no acral abnormalities, IUGR (HP:0001511)"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174378"	"00298"	"00233956"	"00577"	"Unknown"	""	"asymmetries, linear alopecia, clinodactyly, cutaneous syndactyly, born at 29 w gestation; skin hypoplasia (HP:0008065); syndactyly (HP:0001159); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); microcephaly (HP:0000252); no kidney malformation (-HP:0012210), no hydronephrosis (-HP:0000126), no heart defect (-HP:0001627), no displaced anus (-HP:0004397); no mental retardation (-HP:0001249); occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322)"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174379"	"00298"	"00233957"	"03285"	"Unknown"	""	"widespread focal dermal hypoplasia, vesicoureteric reflux; no patchy alopecia (-HP:0002232); syndactyly (HP:0001159); enamel hypoplasia (HP:0006297); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572); microcephaly (HP:0000252); kidney malformation (HP:0012210); no mental retardation (-HP:0001249); occipitofrontal circumference less than P3-P10 (HP:0040195)"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174380"	"00298"	"00233958"	"00577"	"Unknown"	""	"skin hypoplasia (HP:0008065);"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174381"	"00298"	"00233959"	"02310"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174382"	"00298"	"00233960"	"02310"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174383"	"00298"	"00233961"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174384"	"00298"	"00233962"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174385"	"00298"	"00233963"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174386"	"00298"	"00233964"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174387"	"00298"	"00233965"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174388"	"00298"	"00233966"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174389"	"00298"	"00233967"	"00577"	"Unknown"	""	"no hypohidrosis (-HP:0000966)"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174390"	"00298"	"00233968"	"02310"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174391"	"00298"	"00233969"	"02310"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"focal dermal hypoplasia"	""
"0000174392"	"00298"	"00233970"	"02310"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174393"	"00298"	"00233971"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174394"	"00298"	"00233972"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174395"	"00298"	"00233973"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174396"	"00298"	"00233974"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174397"	"00298"	"00233975"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174398"	"00298"	"00233976"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174399"	"00298"	"00233977"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174400"	"00298"	"00233978"	"00577"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174401"	"00298"	"00233979"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174402"	"00298"	"00233980"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174403"	"00298"	"00233981"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174404"	"00298"	"00233982"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174405"	"00298"	"00233983"	"02310"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174406"	"00298"	"00233984"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174407"	"00298"	"00233985"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174408"	"00298"	"00233986"	"02310"	"Unknown"	""	"lobster claw deformity; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), no scoliosis (-HP:0002650); enamel hypoplasia (HP:0006297); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); no kidney malformation (-HP:0012210), no heart defect (-HP:0001627); no mental retardation (-HP:0001249); mammary hypoplasia in adults (HP:0003187)"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174409"	"00298"	"00233987"	"02310"	"Unknown"	""	"nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953); syndactyly (HP:0001159), scoliosis (HP:0002650), ectrodactyly (HP:0100257); oligodontia (HP:0000677); significantly decreased vision (HP:0000572), coloboma (HP:0000589); microcephaly (HP:0000252); mental retardation (HP:0001249);"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174410"	"00298"	"00233988"	"02310"	"Isolated (sporadic)"	""	"patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no fat herniation (-HP:0008441); syndactyly (HP:0001159); hydronephrosis (HP:0000126); no mental retardation (-HP:0001249);"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174411"	"00298"	"00233989"	"00577"	"Familial"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174412"	"00298"	"00233990"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174413"	"00298"	"00233991"	"00577"	"Familial"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174414"	"00298"	"00233992"	"03283"	"Unknown"	""	"mixed hearing loss; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167); syndactyly (HP:0001159), no scoliosis (-HP:0002650), no polydactyly (-HP:0010442), assymmetrical skeletal defects (HP:0011842), ectrodactyly (HP:0100257), oligodactyly (HP:0012165); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589), ; microcephaly (HP:0000252); heart defect (HP:0001627), ; no mental retardation (-HP:0001249);  no omphalocele (-HP:0001539), occipitofrontal circumference not less than P3-P10 (-HP:0040195), no caudal appendage (-HP:0002825), acral abnormalities, no IUGR (-HP:0001511)"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174415"	"00298"	"00233993"	"03283"	"Unknown"	""	"no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953); syndactyly (HP:0001159), no scoliosis (-HP:0002650), polydactyly (HP:0010442), assymmetrical skeletal defects (HP:0011842), ectrodactyly (HP:0100257), oligodactyly (HP:0012165);  , cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), tear duct obstruction (HP:0000579); microcephaly (HP:0000252); no kidney malformation (-HP:0012210), hydronephrosis (HP:0000126), no heart defect (-HP:0001627), displaced anus (HP:0004397);  omphalocele (HP:0001539), occipitofrontal circumference not less than P3-P10 (-HP:0040195), no caudal appendage (-HP:0002825), acral abnormalities, no IUGR (-HP:0001511)"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174416"	"00298"	"00233994"	"02310"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174417"	"00298"	"00233995"	"02310"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174418"	"00298"	"00233996"	"02310"	"Isolated (sporadic)"	""	"bifid uvula; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), fat herniation (HP:0008441), papilloma periorally (HP:0040167); syndactyly (HP:0001159), scoliosis (HP:0002650), no polydactyly (-HP:0010442), assymmetrical skeletal defects (HP:0011842), no ectrodactyly (-HP:0100257), oligodactyly (HP:0012165); oligodontia (HP:0000677), no enamel hypoplasia (-HP:0006297), no cleft lip/palate (-HP:0000202); no thin protruding ear (-HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), tear duct obstruction (HP:0000579); no kidney malformation (-HP:0012210), hydronephrosis (HP:0000126), no heart defect (-HP:0001627), no displaced anus (-HP:0004397); osteopathia striata (HP:001074), no omphalocele (-HP:0001539), occipitofrontal circumference less than P3-P10 (HP:0040195), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), no acral abnormalities, no IUGR (-HP:0001511)"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174419"	"00298"	"00233997"	"02310"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174420"	"00298"	"00233998"	"02310"	"Familial"	""	"Cantrell; patchy alopecia (HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441), papilloma periorally (HP:0040167); syndactyly (HP:0001159), no scoliosis (-HP:0002650), no polydactyly (-HP:0010442), assymmetrical skeletal defects (HP:0011842), ectrodactyly (HP:0100257), no oligodactyly (-HP:0012165); no oligodontia (-HP:0000677), no enamel hypoplasia (-HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), no coloboma (-HP:0000589), ; no kidney malformation (-HP:0012210), no hydronephrosis (-HP:0000126), heart defect (HP:0001627), no displaced anus (-HP:0004397); no mental retardation (-HP:0001249);  omphalocele (HP:0001539), occipitofrontal circumference less than P3-P10 (HP:0040195), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities,"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174421"	"00298"	"00233999"	"02310"	"Unknown"	""	"no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), no skin hypoplasia (-HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441), no papilloma periorally (-HP:0040167); syndactyly (HP:0001159), no scoliosis (-HP:0002650), no polydactyly (-HP:0010442), assymmetrical skeletal defects (HP:0011842), ectrodactyly (HP:0100257), no oligodactyly (-HP:0012165); oligodontia (HP:0000677), ; no thin protruding ear (-HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), no coloboma (-HP:0000589), ; no kidney malformation (-HP:0012210), no hydronephrosis (-HP:0000126), no heart defect (-HP:0001627), ; no mental retardation (-HP:0001249);  no omphalocele (-HP:0001539), occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), no mammary hypoplasia in adults (-HP:0003187), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities,"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174422"	"00298"	"00234000"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174423"	"00298"	"00234001"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174424"	"00298"	"00234002"	"00577"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174425"	"00298"	"00234003"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174426"	"00298"	"00234004"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174427"	"00298"	"00234005"	"00577"	"Unknown"	""	"almost all located on one side of body; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065);   no polydactyly (-HP:0010442), assymmetrical skeletal defects (HP:0011842), no ectrodactyly (-HP:0100257), no oligodactyly (-HP:0012165);  enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), ;"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174428"	"00298"	"00234006"	"00577"	"Unknown"	""	"basal cell carcinomas; skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), fat herniation (HP:0008441), no papilloma periorally (-HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), no scoliosis (-HP:0002650), no polydactyly (-HP:0010442), assymmetrical skeletal defects (HP:0011842), no ectrodactyly (-HP:0100257), oligodactyly (HP:0012165);  , no cleft lip/palate (-HP:0000202);  no microphthalmia (-HP:0000568), ; osteopathia striata (HP:001074), no mammary hypoplasia in adults (-HP:0003187), height not less than P3-P10 (-HP:0004322),"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174429"	"00298"	"00234007"	"03284"	"Unknown"	""	"Lumbar meningocele, Arnold-Chiari malformation and hydrocephalus; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), assymmetrical skeletal defects (HP:0011842), ectrodactyly (HP:0100257), oligodactyly (HP:0012165);  , no cleft lip/palate (-HP:0000202); significantly decreased vision (HP:0000572), no microphthalmia (-HP:0000568), coloboma (HP:0000589), ; microcephaly (HP:0000252); no kidney malformation (-HP:0012210), no hydronephrosis (-HP:0000126), no heart defect (-HP:0001627), ; no osteopathia striata (-HP:001074), no omphalocele (-HP:0001539), IUGR (HP:0001511)"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174430"	"00298"	"00234008"	"00577"	"Isolated (sporadic)"	""	"cone-shaped teeth, nail pterygia, split foot, dural ectasia over several vertebrae; skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953); syndactyly (HP:0001159); no cleft lip/palate (-HP:0000202); microphthalmia (HP:0000568); no kidney malformation (-HP:0012210), no hydronephrosis (-HP:0000126), no heart defect (-HP:0001627); no mental retardation (-HP:0001249); no IUGR (-HP:0001511)"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174431"	"00298"	"00234009"	"00577"	"Unknown"	""	"skin hypoplasia (HP:0008065);"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174432"	"00298"	"00234010"	"00577"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174433"	"00298"	"00234011"	"00577"	"Unknown"	""	"skin hypoplasia (HP:0008065);"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174434"	"00298"	"00234012"	"00577"	"Unknown"	""	"only cutaneous symptoms present; skin hypoplasia (HP:0008065); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442); no oligodontia (-HP:0000677); no microphthalmia (-HP:0000568); no displaced anus (-HP:0004397); no osteopathia striata (-HP:001074), no omphalocele (-HP:0001539)"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174435"	"00298"	"00234013"	"00577"	"Unknown"	""	"mild asymmetry of of ears, mildly short palpebral fissures; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), no ectrodactyly (-HP:0100257); oligodontia (HP:0000677); no coloboma (-HP:0000589); no hydronephrosis (-HP:0000126), no displaced anus (-HP:0004397); no osteopathia striata (-HP:001074), no omphalocele (-HP:0001539)"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174436"	"00298"	"00234014"	"00577"	"Familial"	""	"absent L arm and L leg, asymmetric ventriculomegaly, absent corpus callosum,typeII Chiari malformation, cleft lip/palate, open neural tube defect, ventricular wall defect, stomach absent; no oligodactyly (-HP:0012165); kidney malformation (HP:0012210), heart defect (HP:0001627);"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000174437"	"00298"	"00234015"	"00577"	"Isolated (sporadic)"	""	"R hemifacial microsomia, splayed symphysis pubis, covered bladder exstrophy, dorsal penile opening, R undescended testis, optic nerve atrophy, siplaced leses; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159); oligodontia (HP:0000677); microphthalmia (HP:0000568), coloboma (HP:0000589); no displaced anus (-HP:0004397); omphalocele (HP:0001539)"	""	""	""	""	""	""	""	""	"FDH"	"focal dermal hypoplasia"	""
"0000175590"	"00298"	"00235328"	"00577"	"Unknown"	"17y"	"variant detected in PBL-DNA, mosaic"	""	""	""	""	""	""	""	""	"FDH"	""	""
"0000175600"	"00298"	"00235338"	"00577"	"Familial, X-linked dominant"	""	""	""	"25y"	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000175650"	"00298"	"00235388"	"00577"	"Unknown"	"21y"	"Linear hyperpigmented and atrophic lesions\r\nin a Blaschkoid distribution. Lesions were located on the right arm, right leg and left trunk and involved approximately 10% of the body surface. Syndactyly of 2–3 and 4–5\r\nfingers of the left hand"	""	""	"skin lesions since birth"	""	""	""	""	""	"FDH"	"FDH"	""
"0000179273"	"00298"	"00238981"	"00577"	"Familial, X-linked dominant"	"00y18m"	"Eye:bilateral iris colobomas, left esotropia.\r\nSyndactyly, split foot malformation, possible osteopathia striatum, nail dystrophy, cutis aplasia, dermal hypoplasia, simplified ears with underdevelopment of the superior helices, and ocular colobomas. Pulmonary hypertension and atrial septal defect."	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000179274"	"00298"	"00238982"	"00577"	"Familial, X-linked dominant"	"00y01m"	"ectrodactyly of both hands and right foot, small palpebral fissures, bilateral microphthalmia, microretrognathia, broad nasal bridge, serrated gum, extensive cutaneous lesions with left-sided predominance, multiple vesicles together with atrophic scars and functional anterior anus. \r\nEye:Bilateral microphthalmia, bilateral chorioretinal coloboma\r\nEchocardiography: patent ductus arteriosus."	""	""	""	""	""	""	""	""	""	""	""
"0000179276"	"00298"	"00238983"	"00577"	"Familial, X-linked dominant"	"08y"	"Severe intellectual disability and evidence of auto and heteroaggressive conduct.\r\nFacial asymmetry, left microphtalmia, low set dysplastic ears, a narrow auditory canal, bifid lower lip, oligodontia, an arborescent papilloma in the mental region, prognathism and pointed chin, anteverted nares, a narrow nasal bridge and sparse hair with patchy alopecia.\r\nAtrophy of the skin, syndactyly of the third and fourth finger of the right hand, a split left hand, a cleft right foot and adactylia of the left hallux"	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000179344"	"00298"	"00239099"	"00577"	"Familial, X-linked dominant"	""	"Facial asymmetry L>R, abnormal ear morphology, skin atrophy, nail hypoplasia, R and L foot syndactyly, long bone reduction, limb defects"	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000179345"	"00298"	"00239104"	"00577"	"Familial, X-linked dominant"	""	"Hypoplastic alae nasi, hyperpigmentation,skin atrophy, nail hypoplasia, R hand syndactyly, Left foot syndactyly, limb defects"	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000179383"	"00298"	"00239161"	"00577"	"Familial, X-linked dominant"	""	"L+R hand syndactyly ,L+R foot syndactyly, long bone reduction, limb defects, facial asymmetry L>R, hypoplasic lae nasi,abnormal ear morphologgy, hyperpigmentation, fat deposits, skin atrophy and nail hypoplasia"	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000179387"	"00298"	"00239164"	"00577"	"Familial, X-linked dominant"	""	"R hand syndactyly, R+L foot syndactyly, R+L foot ectrodactyly, long bone reduction, limb defects, R>L facial asymmetry, hypoplastic alae nasi, hyperpigmentation, skin atrophy"	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000179396"	"00298"	"00239174"	"00577"	"Familial, X-linked dominant"	""	"L hand ectrodactyly, L foot ectrodactyly,R foot syndactyly, limb defects, facial asymmetry R>L, hyperpigmentation,skin atrophy, nail apoplasia"	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000179397"	"00298"	"00239175"	"00577"	"Familial, X-linked dominant"	""	"Hypoplasic alae nasi, abnormal ear morphology, hyperpigmentation, fat deposits, skin atrophy, nail hypoplasia, R hand ectrodactyly, L hand syndactyly, R+L foot ectrodactyly, long bone reduction, limb defects"	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000179398"	"00298"	"00239176"	"00577"	"Familial, X-linked dominant"	""	"R>L facial asymmetry, hypoplasic alae nasi, hyperpigmentation, fat deposit,skin atrophy, nail hypoplasia, R hand syndactyly, L foot ectrodactyly, long bone reduction, limb defects."	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000179399"	"00298"	"00239177"	"00577"	"Familial, X-linked dominant"	""	"Hypoplasic alae nasi, hyperpigmentation,skin atrophy, nail hypoplasia, L foot ectrodactyly,  L foot syndactyly, long bone reduction, limb defects"	""	""	"FDH"	"FDH"	""	""	""	""	"FDH"	"FDH"	""
"0000179400"	"00298"	"00239178"	"00577"	"Familial, X-linked dominant"	""	"Hyperpigmentation, fat deposits, skin atrophy, L+R foot ectrodactyly,transverse limb defect,long bone reduction, limb defects."	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000179401"	"00298"	"00239179"	"00577"	"Familial, X-linked dominant"	""	"L>R facial asymmetry, hyperpigmentation, fat deposits, skin atrophy, R hand syndactyly, L foot ectrodactyly, L foot syndactyly, long bone reduction, limb defects"	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000179402"	"00298"	"00239180"	"00577"	"Familial, X-linked dominant"	""	"Hypoplasic alae nasi, hyperpigmentation, fat deposits, skin atrophy, nail hypoplasia, R hand ectrodactyly, R+L hand syndactyly, R foot ectrodactyly, R+L foot syndactyly, long bone reduction, limb defects"	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000179403"	"00298"	"00239181"	"00577"	"Familial, X-linked dominant"	""	"Abnormal ear morphology, hyperpigmentation, skin atrophy, nail hypoplasia, R hand ectrodactyly, R foor syndactyly, limb defects"	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000179404"	"00298"	"00239182"	"00577"	"Familial, X-linked dominant"	""	"abnormal ear morphology, hyperpigmentation, fat deposits, skin atrophy, nail hypoplasia, R hand ectrodactyly, R hand syndactyly, R foot ectrodactyly, long bone reduction, limb defects"	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000179405"	"00298"	"00239183"	"00577"	"Familial, X-linked dominant"	""	"L>R facial asymmetry, hupoplasic alae nasi, hyperpigmentation, fat deposits, skin atrophy, R+L fot syndactyly, lims defects"	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000179407"	"00298"	"00239185"	"00577"	"Familial, X-linked dominant"	"00y10m"	"Skeletal deformities and hypopigmented macules,\r\nfacial asymmetry, skin atrophy, sparse hair, oligodontia, coloboma of the iris and optic disc, syndactyly of hand, ectrodactyly of foot, undescended testis. Global developmental delay and growth below third centiles."	""	"00y10m"	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000179831"	"00298"	"00239615"	"00577"	"Familial, X-linked dominant"	""	"Prenatal: IUGR,  oligohydramnios, facial clefts and polycystic kidneys. At birth: absence of skin findings, hypoplastic widely spaced nipples. Heart: bicuspid aortic valve and pulmonary hypertension Ears had underfolded helices, were low set and posteriorly rotated. Left cryptorchidism. Ocular defects: bilateral microphthalmia, microcornea, large fundus coloboma involving the optic nerve. Bilateral clefts of the lip and cleft palate that extend to the palpebral fissures bilaterally. R hand ectrodactyly, L hand syndactyly. Left forearm markedly shortened and radially angulated at the wrist. Bilateral hypoplasia of the radius and short ulnae. R foot syndactyly, Lt foot mild 3–4 syndactyly. Hypoplastic nails. X rays: absence of a rib pair and radial hypoplasia."	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000180298"	"00298"	"00240146"	"00577"	"Familial, X-linked dominant"	"00y01m"	"Skin: FDH following  the lines of Blaschko on the lower extremities, linear lesions bilaterally on trunk. Small papules of the fourth toe and a small mobile mass on the posterior scalp. Sparseness of hair and eyelashes.\r\nAsymmetry of the upper lip with hypoplastic tissue on the left. Ears: slightly posteriorly rotated and large relative to his body.\r\nSyndactyly on the R 2nd and 3rd finger, ectrodactyly  R foot, and osteopathia striatum.  Right foot ectrodactyly was present with absent right fifth toenail. Linear nail anomalies of the second and third left fingernails were noted, as well as ulnar deviation of the left fourth finger. Diastasis recti. Eye: bilateral colobomas. Heart: secundum atrial septal defect, patent ductus arteriosus (PDA), and pulmonary hypertension. \r\nUndescended testes."	""	"00y01m"	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000180366"	"00298"	"00240227"	"00577"	"Familial, X-linked dominant"	"29y"	"Skin: almost unilateral FDH on the right side of her body, hyperpigmented nodules, dermal hypoplasia, subcutaneous fat herniation into the dermis on the right side of trunk and extremities. Hypoplastic R upper and lower extremitie. Facial asymmetry, microcephaly, cone-shaped teeth, and ridged dysplastic nails. Eye: bilateral microphthalmos, choroidoretinal coloboma R eye. Ectrodactyly of the R foot. Primary infertility."	""	"29y"	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000180367"	"00298"	"00240228"	"00577"	"Familial, X-linked dominant"	"03y"	"facial asymmetry, right‐sided hypoplasia, widely spaced teeth, low set ears. Hypopigmentation in a blaschkolinear distribution on R arm. Telangiectasia R+L arms, L leg in a blaschkolinear distribution. Atrophic skin with nodular fat herniation clustered on the right‐side trunk. Patchy skin aplasia on R leg. His right foot showed partial ectrodactyly of the second toe (Figure 1D). Clinodactyly R+L hands and a complete syndactyly of the third and fourth fingers of L hand. Ridged nails L hand and 2nd -3rd finger R hand. Right‐sided dacryostenosis, short stature (−4 SD), inguinal hernia, and osteopathia striata."	""	"03y"	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000180407"	"00298"	"00240332"	"00577"	"Familial, X-linked dominant"	""	"ectrodactyly, ectodermal dysplasia and orofacial clefts"	""	""	""	""	""	""	""	""	"FDH"	"EEC syndrome"	""
"0000180414"	"00298"	"00240339"	"00577"	"Familial, X-linked dominant"	""	""	""	">30y"	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000180415"	"00298"	"00240340"	"00577"	"Familial, X-linked dominant"	""	""	""	">13y"	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000180420"	"00298"	"00240345"	"00577"	"Familial, X-linked dominant"	""	"14 weeks TOP, omphalocele, oligodactyly, low set ears, mother has reticular pigmentation of the skin"	""	""	""	""	""	""	""	""	"FDH not confirmed"	"FDH"	""
"0000180480"	"00298"	"00240416"	"00577"	"Familial, X-linked dominant"	""	""	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000187386"	"00298"	"00248390"	"00577"	"Familial, X-linked dominant"	""	"Cystic hygroma, limb defects, shortening of the long bones, Ectrodactyly involving all extremities, Split-Hand/Foot Malformation (SHFM)"	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000187389"	"00298"	"00248394"	"00577"	"Familial, X-linked dominant"	""	"affected mother. Skull: Wormian bones. Skin:  dermal hypoplasia. Limb: ectromelia, ectrodactyly. Nail hypo-/a-/dys-plasia. Facial asymmetry. Eye: asymmetry, axis deviation, retinal ysplasia. Rudimentary teeth. Split sternum. Abdominal wall thinning. Caudal appendix. Kidney hypoplasia. Hydronephrosis. Internal and external genitalia anomaly.     Corpus callosum agenesis.  Nasal bone absence. Ribs anomaly. Abnormal shape/absence long bones. Pelvic anomaly. Scoliosis. Inner ear hypoplasia. Reduced feto-maternal exchange surface."	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000187390"	"00298"	"00248395"	"00577"	"Familial, X-linked dominant"	""	"IUGR Skull:microcephaly. Skin:pigmentation anomaly. Limb: ectrodactyly, syndactyly, oligodactyly, camptodactyly. Nail hypo-/a-/dys-plasia. Sparse hair. Hernia diaphragmatica. Hydronephrosis. Polysplenia. Internal and external genitalia anomaly. Cardiopathy. Cerebellar anomaly. Ribs anomaly. Clavicles anomaly. Pelvic anomaly. Scoliosis. Advance maturation."	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000187391"	"00298"	"00248397"	"00577"	"Familial, X-linked dominant"	""	"IUGR. Skin: dermal hypoplasia. Limb: syndactyly. Nail hypo-/a-/dys-plasia. Split sternum. Scoliosis. Reduced feto-maternal exchange surface."	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000187460"	"00298"	"00248469"	"00577"	"Familial, X-linked dominant"	"01y"	""	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000187461"	"00298"	"00248470"	"00577"	"Familial, X-linked dominant"	""	"diagnosis aplasia cutis congenita made after birth, syndactyly of proximal phalanges III en IV finger LH, syndactyly of III and IV toes of RF, oesophageal paillomas , normal psycomotor and intellectual development"	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000187478"	"00298"	"00248488"	"00577"	"Familial, X-linked dominant"	""	""	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000187484"	"00298"	"00248509"	"00577"	"Familial, X-linked dominant"	""	""	""	"30y?"	""	""	""	""	""	""	"FDH"	"angioma seriginosum"	""
"0000187496"	"00298"	"00248527"	"00577"	"Familial, X-linked dominant"	""	""	""	"00y06m?"	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000187498"	"00298"	"00248529"	"00577"	"Familial, X-linked dominant"	""	""	""	"00y06m?"	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000187500"	"00298"	"00248531"	"00577"	"Familial, X-linked dominant"	""	""	""	">20y"	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000187501"	"00298"	"00248532"	"00577"	"Familial, X-linked dominant"	"00y01m?"	"mild phenotype, skin hyperpigmentation following Blaschko lines, hypoplastic nails. teleangiectasia. No eyes/skeletal abnormalities."	""	"01y?"	""	""	""	""	""	""	"FDH"	"Incontinentia pigmenti/FDH"	""
"0000187505"	"00298"	"00248535"	"00577"	"Familial, X-linked dominant"	""	"skin aplasia , finger malformations"	""	"00y06m?"	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000187507"	"00298"	"00248537"	"00577"	"Familial, X-linked dominant"	""	""	""	"12y?"	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000187510"	"00298"	"00248542"	"00577"	"Familial, X-linked dominant"	""	"fetus 25 weeks"	""	""	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000187820"	"00298"	"00248852"	"00577"	"Familial, X-linked dominant"	"?"	"mild phenotype, osteopathia striata"	""	"48y?"	""	""	""	""	""	""	"FDH"	"FDH"	""
"0000269330"	"00198"	"00374119"	"00006"	"Isolated (sporadic)"	"<0d"	"24w-fetus, ultrasound intrauterine growth retardation, hygroma, diaphragmatic hernia; autopsy intrauterine growth retardation, hygroma, facial dysmorphism, right retinal coloboma, syndactyly, broad hallux, left diaphragmatic hernia, toe nail hypoplasia;  no skin abnomality, no oral abnomality"	""	""	""	""	""	""	""	""	""	"multiple congenital abnormalities"	""
"0000275935"	"00298"	"00382093"	"00000"	"Familial, X-linked dominant"	""	"microphthalmia, anophthalmia, and coloboma; MIM, 305600"	""	""	""	""	""	""	""	""	""	"MIM, 305600"	""
"0000281237"	"04214"	"00387674"	"00000"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	"Gorlin goltz syndrome"	"Microphthalmia anophthalmia coloboma spectrum"	""
"0000302690"	"00198"	"00410587"	"00006"	"Familial, X-linked dominant"	""	"see paper; ..., onset neonatal, focal dermal hypoplasia, dystrophic nails, enamel hypoplasia, scoliosis, syndactyly 2nd/3rd toe, papillomas, no family history"	""	""	""	""	""	""	""	""	"FDH"	""	""
"0000352930"	"05611"	"00467777"	"00006"	"Isolated (sporadic)"	""	"no syndromic BM, no abnormal corpus callosum, no cortical dysgenesis, no microcephaly, hindbrain malformation, no white matter abnormalities, non-syndromic developmental delay/intellectual disability"	""	""	""	""	""	""	""	""	"FDH"	"neurodevelopmental disorder"	""
"0000354399"	"00198"	"00469246"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"abnormality of the integument"	""


## Screenings ## Do not remove or alter this header ##
## Count = 229
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000209"	"00000208"	"1"	"00037"	"00001"	"2012-09-13 12:02:03"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000000210"	"00000209"	"1"	"00037"	"00001"	"2012-09-13 12:09:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000004146"	"00004220"	"1"	"00574"	"00574"	"2014-01-17 10:41:20"	"00006"	"2014-01-17 19:04:28"	"SEQ-NG-I"	"DNA"	""	""
"0000004147"	"00004221"	"1"	"00574"	"00574"	"2014-01-17 11:17:56"	"00006"	"2014-01-17 19:37:17"	"SEQ-NG-I"	"DNA"	""	""
"0000004149"	"00004223"	"1"	"00574"	"00574"	"2014-01-17 11:31:49"	"00006"	"2014-01-17 19:45:02"	"SEQ-NG-I"	"DNA"	""	""
"0000004150"	"00004224"	"1"	"00574"	"00574"	"2014-01-17 11:35:23"	"00006"	"2014-01-17 19:41:42"	"SEQ-NG-I"	"DNA"	""	""
"0000004151"	"00004225"	"1"	"00574"	"00574"	"2014-01-17 11:38:24"	"00006"	"2014-01-17 19:43:04"	"SEQ-NG-I"	"DNA"	""	""
"0000133631"	"00132797"	"1"	"02308"	"02308"	"2017-11-09 11:23:10"	""	""	"SEQ"	"DNA"	""	""
"0000133632"	"00132798"	"1"	"02308"	"02308"	"2017-11-09 11:41:16"	""	""	"SEQ"	"DNA"	""	""
"0000164642"	"00163778"	"1"	"01741"	"01741"	"2018-04-11 11:04:13"	""	""	"SEQ"	"DNA"	""	""
"0000232101"	"00231005"	"1"	"01962"	"01962"	"2019-04-22 18:34:56"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000232102"	"00231006"	"1"	"01962"	"01962"	"2019-04-22 18:45:24"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000234951"	"00233852"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2012-07-12 14:44:56"	"SEQ"	"DNA"	""	""
"0000234952"	"00233853"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-29 12:16:21"	"SEQ"	"DNA"	""	""
"0000234953"	"00233854"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:50:03"	"SEQ"	"DNA"	""	""
"0000234954"	"00233855"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-23 00:26:39"	"SEQ"	"DNA"	""	""
"0000234955"	"00233856"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-26 15:27:12"	"SEQ"	"DNA"	""	""
"0000234956"	"00233857"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-04-01 16:17:41"	"SEQ"	"DNA"	""	""
"0000234957"	"00233858"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:04:19"	"SEQ"	"DNA"	""	""
"0000234958"	"00233859"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:50:56"	"SEQ"	"DNA"	""	""
"0000234959"	"00233860"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:05:43"	"SEQ"	"DNA"	""	""
"0000234960"	"00233861"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:08:22"	"SEQ"	"DNA"	""	""
"0000234961"	"00233862"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:09:38"	"SEQ"	"DNA"	""	""
"0000234962"	"00233863"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-16 12:09:53"	"SEQ"	"DNA"	""	""
"0000234963"	"00233864"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-29 12:18:58"	"SEQ"	"DNA"	""	""
"0000234964"	"00233865"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-16 12:12:18"	"SEQ"	"DNA"	""	""
"0000234965"	"00233866"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-16 12:15:33"	"SEQ"	"DNA"	""	""
"0000234966"	"00233867"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:11:26"	"SEQ"	"DNA"	""	""
"0000234967"	"00233868"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-25 09:41:49"	"SEQ"	"DNA"	""	""
"0000234968"	"00233869"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:15:22"	"SEQ"	"DNA"	""	""
"0000234969"	"00233870"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-31 11:40:34"	"SEQ"	"DNA"	""	""
"0000234970"	"00233871"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-29 12:24:30"	"SEQ"	"DNA"	""	""
"0000234971"	"00233872"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:14:37"	"SEQ"	"DNA"	""	""
"0000234972"	"00233873"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-29 10:13:54"	"SEQ"	"DNA"	""	""
"0000234973"	"00233874"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:52:06"	"SEQ"	"DNA"	""	""
"0000234974"	"00233875"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:21:18"	"SEQ"	"DNA"	""	""
"0000234975"	"00233876"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-16 12:38:01"	"SEQ"	"DNA"	""	""
"0000234976"	"00233877"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-16 12:41:22"	"SEQ"	"DNA"	""	""
"0000234977"	"00233878"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-23 11:52:12"	"SEQ"	"DNA"	""	""
"0000234978"	"00233879"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-29 12:35:40"	"SEQ"	"DNA"	""	""
"0000234979"	"00233880"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:18:50"	"SEQ"	"DNA"	""	""
"0000234980"	"00233881"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:20:04"	"SEQ"	"DNA"	""	""
"0000234981"	"00233882"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-23 14:31:22"	"SEQ"	"DNA"	""	""
"0000234982"	"00233883"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:23:08"	"SEQ"	"DNA"	""	""
"0000234983"	"00233884"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-23 14:46:55"	"SEQ"	"DNA"	""	""
"0000234984"	"00233885"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-16 12:47:50"	"SEQ"	"DNA"	""	""
"0000234985"	"00233886"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-24 13:49:59"	"SEQ"	"DNA"	""	""
"0000234986"	"00233887"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-29 10:18:49"	"SEQ"	"DNA"	""	""
"0000234987"	"00233888"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-31 11:42:34"	"SEQ"	"DNA"	""	""
"0000234988"	"00233889"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-31 11:43:56"	"SEQ"	"DNA"	""	""
"0000234989"	"00233890"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:24:38"	"SEQ"	"DNA"	""	""
"0000234990"	"00233891"	"1"	"02310"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-19 16:02:27"	"SEQ"	"DNA"	""	""
"0000234991"	"00233892"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2012-07-12 12:59:42"	"SEQ"	"DNA"	""	""
"0000234992"	"00233893"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2012-07-12 15:02:26"	"SEQ"	"DNA"	""	""
"0000234993"	"00233894"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:54:42"	"SEQ"	"DNA"	""	""
"0000234994"	"00233895"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:25:34"	"SEQ"	"DNA"	""	""
"0000234995"	"00233896"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-31 11:50:34"	"SEQ"	"DNA"	""	""
"0000234996"	"00233897"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:35:34"	"SEQ"	"DNA"	""	""
"0000234997"	"00233898"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-29 12:48:34"	"SEQ"	"DNA"	""	""
"0000234998"	"00233899"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-24 14:36:17"	"SEQ"	"DNA"	""	""
"0000234999"	"00233900"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-24 14:42:02"	"SEQ"	"DNA"	""	""
"0000235000"	"00233901"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-26 15:14:44"	"SEQ"	"DNA"	""	""
"0000235001"	"00233902"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2012-07-12 16:12:54"	"SEQ"	"DNA"	""	""
"0000235002"	"00233903"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-31 11:51:32"	"SEQ"	"DNA"	""	""
"0000235003"	"00233904"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-29 12:50:18"	"SEQ"	"DNA"	""	""
"0000235004"	"00233905"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-24 14:00:08"	"SEQ"	"DNA"	""	""
"0000235005"	"00233906"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:29:23"	"SEQ"	"DNA"	""	""
"0000235006"	"00233907"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2012-07-12 16:14:08"	"SEQ"	"DNA"	""	""
"0000235007"	"00233908"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:30:36"	"SEQ"	"DNA"	""	""
"0000235008"	"00233909"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:31:51"	"SEQ"	"DNA"	""	""
"0000235009"	"00233910"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-25 09:51:39"	"SEQ"	"DNA"	""	""
"0000235010"	"00233911"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:53:24"	"SEQ"	"DNA"	""	""
"0000235011"	"00233912"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-25 09:59:23"	"SEQ"	"DNA"	""	""
"0000235012"	"00233913"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-31 11:52:41"	"SEQ"	"DNA"	""	""
"0000235013"	"00233914"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-16 13:25:37"	"SEQ"	"DNA"	""	""
"0000235014"	"00233915"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-29 12:57:14"	"SEQ"	"DNA"	""	""
"0000235015"	"00233916"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:27:17"	"SEQ"	"DNA"	""	""
"0000235016"	"00233917"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-16 13:30:20"	"SEQ"	"DNA"	""	""
"0000235017"	"00233918"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:38:22"	"SEQ"	"DNA"	""	""
"0000235018"	"00233919"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-24 14:47:33"	"SEQ"	"DNA"	""	""
"0000235019"	"00233920"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:39:33"	"SEQ"	"DNA"	""	""
"0000235020"	"00233921"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:37:11"	"SEQ"	"DNA"	""	""
"0000235021"	"00233922"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-29 13:00:13"	"SEQ"	"DNA"	""	""
"0000235022"	"00233923"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-25 10:14:38"	"SEQ"	"DNA"	""	""
"0000235023"	"00233924"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-24 14:53:16"	"SEQ"	"DNA"	""	""
"0000235024"	"00233925"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:41:54"	"SEQ"	"DNA"	""	""
"0000235025"	"00233926"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:40:56"	"SEQ"	"DNA"	""	""
"0000235026"	"00233927"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-29 13:06:11"	"SEQ"	"DNA"	""	""
"0000235027"	"00233928"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-04-06 16:34:17"	"SEQ"	"DNA"	""	""
"0000235028"	"00233929"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-24 14:23:30"	"SEQ"	"DNA"	""	""
"0000235029"	"00233930"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:56:25"	"SEQ"	"DNA"	""	""
"0000235030"	"00233931"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:46:16"	"SEQ"	"DNA"	""	""
"0000235031"	"00233932"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:48:02"	"SEQ"	"DNA"	""	""
"0000235032"	"00233933"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-29 13:13:24"	"SEQ"	"DNA"	""	""
"0000235033"	"00233934"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:43:50"	"SEQ"	"DNA"	""	""
"0000235034"	"00233935"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:44:36"	"SEQ"	"DNA"	""	""
"0000235035"	"00233936"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-23 15:14:41"	"SEQ"	"DNA"	""	""
"0000235036"	"00233937"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-24 13:33:04"	"SEQ"	"DNA"	""	""
"0000235037"	"00233938"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-24 13:38:50"	"SEQ"	"DNA"	""	""
"0000235038"	"00233939"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-19 16:02:27"	"SEQ"	"DNA"	""	""
"0000235039"	"00233940"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-29 15:21:02"	"arrayCGH;MAPH"	"DNA"	""	""
"0000235040"	"00233941"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 13:41:51"	"arrayCGH;MAPH"	"DNA"	""	""
"0000235041"	"00233942"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 13:43:41"	"MAPH"	"DNA"	""	""
"0000235042"	"00233943"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 13:45:04"	"MAPH"	"DNA"	""	""
"0000235043"	"00233944"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-31 11:16:29"	"arrayCGH;MAPH"	"DNA"	""	""
"0000235044"	"00233945"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-03-31 11:18:01"	"arrayCGH;MAPH"	"DNA"	""	""
"0000235045"	"00233946"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 14:01:25"	"arrayCGH;MAPH"	"DNA"	""	""
"0000235046"	"00233947"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 13:46:25"	"PCRq;arrayCGH;FISH"	"DNA"	""	""
"0000235047"	"00233948"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 13:51:35"	"arrayCGH;FISH;PCRq"	"DNA"	""	""
"0000235048"	"00233949"	"1"	"00577"	"00577"	"2010-03-18 15:03:45"	"00577"	"2010-09-17 13:54:45"	"arrayCGH"	"DNA"	""	""
"0000235049"	"00233950"	"1"	"00577"	"00577"	"2010-07-25 00:10:48"	"00577"	"2010-09-17 14:32:49"	"arrayCGH"	"DNA"	""	""
"0000235050"	"00233951"	"1"	"00577"	"00577"	"2010-07-25 00:54:33"	"00577"	"2012-07-12 16:15:23"	"SEQ"	"DNA"	""	""
"0000235051"	"00233952"	"1"	"00577"	"00577"	"2010-07-25 01:11:16"	"00577"	"2012-07-12 15:05:27"	"SEQ"	"DNA"	""	""
"0000235052"	"00233953"	"1"	"00577"	"00577"	"2010-07-25 01:20:47"	"00577"	"2012-07-15 11:51:01"	"SEQ"	"DNA"	""	""
"0000235053"	"00233954"	"1"	"00577"	"00577"	"2010-07-26 10:29:34"	"00577"	"2019-05-24 14:39:21"	"arrayCGH"	"DNA"	""	""
"0000235054"	"00233955"	"1"	"00577"	"00577"	"2010-09-22 11:52:26"	"00577"	"2013-01-02 14:57:49"	"SEQ"	"DNA"	""	""
"0000235055"	"00233956"	"1"	"00577"	"00577"	"2010-09-22 12:32:23"	"00577"	"2010-09-22 21:56:03"	"SEQ"	"DNA"	""	""
"0000235056"	"00233957"	"1"	"03285"	"00577"	"2011-01-06 17:14:49"	"00577"	"2013-01-02 15:00:15"	"SEQ"	"DNA"	""	""
"0000235057"	"00233958"	"1"	"00577"	"00577"	"2012-07-12 12:51:26"	"00577"	"2013-01-02 14:50:25"	"SEQ"	"DNA"	""	""
"0000235058"	"00233959"	"1"	"02310"	"00577"	"2012-07-12 16:36:46"	"00577"	"2013-01-02 14:43:29"	"SEQ"	"DNA"	""	""
"0000235059"	"00233960"	"1"	"02310"	"00577"	"2012-07-12 16:54:20"	"00577"	"2012-07-12 16:58:30"	"SEQ"	"DNA"	""	""
"0000235060"	"00233961"	"1"	"00577"	"00577"	"2012-07-12 17:03:23"	""	""	"SEQ"	"DNA"	""	""
"0000235061"	"00233962"	"1"	"00577"	"00577"	"2012-07-12 17:11:03"	""	""	"SEQ"	"DNA"	""	""
"0000235062"	"00233963"	"1"	"00577"	"00577"	"2012-07-13 08:48:03"	"00577"	"2012-07-13 08:48:41"	"SEQ"	"DNA"	""	""
"0000235063"	"00233964"	"1"	"00577"	"00577"	"2012-07-13 08:52:53"	"00577"	"2013-01-02 14:41:44"	"SEQ"	"DNA"	""	""
"0000235064"	"00233965"	"1"	"00577"	"00577"	"2012-07-13 10:32:14"	"00577"	"2012-07-13 11:27:48"	"SEQ"	"DNA"	""	""
"0000235065"	"00233966"	"1"	"00577"	"00577"	"2012-07-13 11:35:34"	""	""	"SEQ"	"DNA"	""	""
"0000235066"	"00233967"	"1"	"00577"	"00577"	"2012-07-13 11:48:30"	""	""	"SEQ"	"DNA"	""	""
"0000235067"	"00233968"	"1"	"02310"	"00577"	"2012-07-13 12:36:40"	"00577"	"2012-07-13 12:37:05"	"SEQ"	"DNA"	""	""
"0000235068"	"00233969"	"1"	"02310"	"00577"	"2012-07-15 00:07:08"	""	""	"SEQ"	"DNA"	""	""
"0000235069"	"00233970"	"1"	"02310"	"00577"	"2012-07-15 00:16:58"	"00577"	"2012-07-15 22:01:05"	"SEQ"	"DNA"	""	""
"0000235070"	"00233971"	"1"	"00577"	"00577"	"2012-07-15 00:25:52"	""	""	"SEQ"	"DNA"	""	""
"0000235071"	"00233972"	"1"	"00577"	"00577"	"2012-07-15 00:39:27"	"00577"	"2012-07-15 11:52:19"	"SEQ"	"DNA"	""	""
"0000235072"	"00233973"	"1"	"00577"	"00577"	"2012-07-15 11:38:07"	"00577"	"2012-07-15 11:53:42"	"SEQ"	"DNA"	""	""
"0000235073"	"00233974"	"1"	"00577"	"00577"	"2012-07-15 11:43:29"	"00577"	"2012-07-15 11:54:47"	"SEQ"	"DNA"	""	""
"0000235074"	"00233975"	"1"	"00577"	"00577"	"2012-07-15 11:47:04"	"00577"	"2012-07-15 11:55:49"	"SEQ"	"DNA"	""	""
"0000235075"	"00233976"	"1"	"00577"	"00577"	"2012-07-15 12:00:01"	"00577"	"2013-01-02 14:42:56"	"SEQ"	"DNA"	""	""
"0000235076"	"00233977"	"1"	"00577"	"00577"	"2012-07-15 17:53:46"	""	""	"SEQ"	"DNA"	""	""
"0000235077"	"00233978"	"1"	"00577"	"00577"	"2012-07-15 17:58:14"	""	""	"SEQ"	"DNA"	""	""
"0000235078"	"00233979"	"1"	"00577"	"00577"	"2012-07-15 18:02:52"	""	""	"SEQ"	"DNA"	""	""
"0000235079"	"00233980"	"1"	"00577"	"00577"	"2012-07-15 18:06:39"	""	""	"SEQ"	"DNA"	""	""
"0000235080"	"00233981"	"1"	"00577"	"00577"	"2012-07-15 18:12:31"	""	""	"SEQ"	"DNA"	""	""
"0000235081"	"00233982"	"1"	"00577"	"00577"	"2012-07-15 18:19:00"	""	""	"SEQ"	"DNA"	""	""
"0000235082"	"00233983"	"1"	"02310"	"00577"	"2012-07-15 21:45:35"	""	""	"SEQ"	"DNA"	""	""
"0000235083"	"00233984"	"1"	"00577"	"00577"	"2012-07-15 21:51:52"	"00577"	"2012-07-15 21:52:18"	"SEQ"	"DNA"	""	""
"0000235084"	"00233985"	"1"	"00577"	"00577"	"2012-07-15 21:56:05"	""	""	"SEQ"	"DNA"	""	""
"0000235085"	"00233986"	"1"	"02310"	"00577"	"2012-07-15 22:22:09"	"00577"	"2012-07-19 09:46:04"	"SEQ"	"DNA"	""	""
"0000235086"	"00233987"	"1"	"02310"	"00577"	"2012-07-15 22:42:31"	""	""	"SEQ"	"DNA"	""	""
"0000235087"	"00233988"	"1"	"02310"	"00577"	"2012-07-15 22:52:20"	"00577"	"2012-07-16 10:03:44"	"SEQ"	"DNA"	""	""
"0000235088"	"00233989"	"1"	"00577"	"00577"	"2012-07-16 11:48:53"	""	""	"SEQ"	"DNA"	""	""
"0000235089"	"00233990"	"1"	"00577"	"00577"	"2012-07-16 12:16:46"	""	""	"SEQ"	"DNA"	""	""
"0000235090"	"00233991"	"1"	"00577"	"00577"	"2012-07-16 12:23:29"	""	""	"SEQ"	"DNA"	""	""
"0000235091"	"00233992"	"1"	"03283"	"00577"	"2012-07-16 12:31:23"	"00577"	"2012-07-31 22:48:24"	"SEQ"	"DNA"	""	""
"0000235092"	"00233993"	"1"	"03283"	"00577"	"2012-07-16 12:42:44"	"00577"	"2012-07-31 22:34:03"	"SEQ"	"DNA"	""	""
"0000235093"	"00233994"	"1"	"02310"	"00577"	"2012-07-16 14:00:47"	""	""	"SEQ"	"DNA"	""	""
"0000235094"	"00233995"	"1"	"02310"	"00577"	"2012-07-16 14:41:10"	"00577"	"2012-07-31 15:04:09"	"SEQ"	"DNA"	""	""
"0000235095"	"00233996"	"1"	"02310"	"00577"	"2012-07-16 14:48:22"	"00577"	"2012-07-31 22:57:48"	"SEQ"	"DNA"	""	""
"0000235096"	"00233997"	"1"	"02310"	"00577"	"2012-07-16 15:09:03"	""	""	"SEQ"	"DNA"	""	""
"0000235097"	"00233998"	"1"	"02310"	"00577"	"2012-07-16 15:20:02"	"00577"	"2013-12-27 14:19:04"	"SEQ"	"DNA"	""	""
"0000235098"	"00233999"	"1"	"02310"	"00577"	"2012-07-16 15:39:42"	"00577"	"2013-12-27 14:21:53"	"SEQ"	"DNA"	""	""
"0000235099"	"00234000"	"1"	"00577"	"00577"	"2012-07-16 15:48:34"	""	""	"SEQ"	"DNA"	""	""
"0000235100"	"00234001"	"1"	"00577"	"00577"	"2012-07-16 15:53:09"	"00577"	"2013-01-02 14:41:10"	"SEQ"	"DNA"	""	""
"0000235101"	"00234002"	"1"	"00577"	"00577"	"2012-12-12 11:43:43"	"00577"	"2013-01-02 14:40:33"	"SEQ"	"DNA"	""	""
"0000235102"	"00234003"	"1"	"00577"	"00577"	"2012-12-12 11:51:01"	"00577"	"2013-01-02 14:48:45"	"SEQ"	"DNA"	""	""
"0000235103"	"00234004"	"1"	"00577"	"00577"	"2012-12-12 11:59:39"	"00577"	"2013-01-02 14:32:15"	"SEQ"	"DNA"	""	""
"0000235104"	"00234005"	"1"	"00577"	"00577"	"2012-12-12 13:45:36"	"00577"	"2013-01-02 14:38:35"	"SEQ"	"DNA"	""	""
"0000235105"	"00234006"	"1"	"00577"	"00577"	"2012-12-12 14:14:57"	"00577"	"2013-01-02 14:23:57"	"MAPH"	"DNA"	""	""
"0000235106"	"00234007"	"1"	"03284"	"00577"	"2013-03-19 04:58:43"	"00577"	"2014-03-17 10:18:53"	"PCR"	"DNA"	""	""
"0000235107"	"00234008"	"1"	"00577"	"00577"	"2013-09-20 13:21:59"	"00577"	"2013-09-20 13:24:45"	"SEQ"	"DNA"	""	""
"0000235108"	"00234009"	"1"	"00577"	"00577"	"2013-09-20 13:49:09"	""	""	"SEQ"	"DNA"	""	""
"0000235109"	"00234010"	"1"	"00577"	"00577"	"2013-09-20 13:58:11"	""	""	"SEQ"	"DNA"	""	""
"0000235110"	"00234011"	"1"	"00577"	"00577"	"2013-12-27 14:30:28"	"00577"	"2013-12-27 14:30:58"	"SEQ"	"DNA"	""	""
"0000235111"	"00234012"	"1"	"00577"	"00577"	"2013-12-27 14:49:46"	"00577"	"2013-12-27 14:55:52"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000235112"	"00234013"	"1"	"00577"	"00577"	"2013-12-27 15:26:24"	"00577"	"2014-01-10 23:29:07"	"arrayCGH"	"DNA"	""	""
"0000235113"	"00234014"	"1"	"00577"	"00577"	"2013-12-27 15:57:23"	"00577"	"2014-01-10 23:31:48"	"arrayCGH"	"DNA"	""	""
"0000235114"	"00234015"	"1"	"00577"	"00577"	"2013-12-27 16:44:04"	"00577"	"2013-12-27 16:44:36"	"SEQ"	"DNA"	""	""
"0000236433"	"00235328"	"1"	"00577"	"00577"	"2019-05-21 16:26:44"	""	""	"SEQ"	"DNA"	"PBL-DNA"	"mosaic"
"0000236443"	"00235338"	"1"	"00577"	"00577"	"2019-05-22 16:56:28"	""	""	"MLPA"	"DNA"	"PBL-DNA"	""
"0000236492"	"00235388"	"1"	"00577"	"00577"	"2019-05-24 14:16:24"	""	""	"SEQ"	"DNA"	"PBL-DNA and buccal swab DNA"	""
"0000240087"	"00238981"	"1"	"00577"	"00577"	"2019-05-29 15:23:38"	""	""	"SEQ"	"DNA"	""	""
"0000240088"	"00238982"	"1"	"00577"	"00577"	"2019-05-29 16:20:48"	""	""	"SEQ"	"DNA"	""	""
"0000240089"	"00238983"	"1"	"00577"	"00577"	"2019-05-29 16:52:01"	""	""	"SEQ"	"DNA"	""	""
"0000240205"	"00239099"	"1"	"00577"	"00577"	"2019-05-31 16:16:53"	""	""	"SEQ"	"DNA"	""	""
"0000240210"	"00239104"	"1"	"00577"	"00577"	"2019-05-31 16:35:03"	""	""	"SEQ"	"DNA"	""	""
"0000240265"	"00239161"	"1"	"00577"	"00577"	"2019-06-03 14:56:28"	""	""	"SEQ"	"DNA"	""	""
"0000240268"	"00239164"	"1"	"00577"	"00577"	"2019-06-03 15:18:26"	""	""	"SEQ"	"DNA"	""	""
"0000240278"	"00239174"	"1"	"00577"	"00577"	"2019-06-03 16:49:08"	""	""	"SEQ"	"DNA"	""	""
"0000240279"	"00239175"	"1"	"00577"	"00577"	"2019-06-04 12:05:41"	""	""	"SEQ"	"DNA"	""	""
"0000240280"	"00239176"	"1"	"00577"	"00577"	"2019-06-04 12:21:14"	""	""	"SEQ"	"DNA"	""	""
"0000240281"	"00239177"	"1"	"00577"	"00577"	"2019-06-04 12:37:54"	""	""	"SEQ"	"DNA"	""	""
"0000240282"	"00239178"	"1"	"00577"	"00577"	"2019-06-04 13:48:47"	""	""	"SEQ"	"DNA"	""	""
"0000240283"	"00239179"	"1"	"00577"	"00577"	"2019-06-04 14:18:02"	""	""	"SEQ"	"DNA"	""	""
"0000240284"	"00239180"	"1"	"00577"	"00577"	"2019-06-05 09:40:41"	""	""	"SEQ"	"DNA"	""	""
"0000240285"	"00239181"	"1"	"00577"	"00577"	"2019-06-05 09:59:46"	""	""	"SEQ"	"DNA"	""	""
"0000240286"	"00239182"	"1"	"00577"	"00577"	"2019-06-05 10:26:10"	""	""	"SEQ"	"DNA"	""	""
"0000240287"	"00239183"	"1"	"00577"	"00577"	"2019-06-05 11:32:43"	""	""	"arrayCGH"	"DNA"	""	"custom‐designed exon‐targeted aCGH oligonucleotide microarrays V10.1(400K)"
"0000240288"	"00239185"	"1"	"00577"	"00577"	"2019-06-05 15:43:38"	""	""	"SEQ"	"DNA"	""	""
"0000240720"	"00239615"	"1"	"00577"	"00577"	"2019-06-07 15:51:27"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000241329"	"00240146"	"1"	"00577"	"00577"	"2019-06-12 10:09:09"	""	""	"SEQ"	"DNA"	""	""
"0000241330"	"00240227"	"1"	"00577"	"00577"	"2019-06-12 11:14:45"	""	""	"SEQ-NG-H"	"DNA"	""	""
"0000241331"	"00240228"	"1"	"00577"	"00577"	"2019-06-12 11:52:38"	""	""	"SEQ"	"DNA"	"blood and fibrblasts from affected and uneffected"	""
"0000241436"	"00240332"	"1"	"00577"	"00577"	"2019-06-13 12:00:36"	""	""	"SEQ"	"DNA"	""	""
"0000241443"	"00240339"	"1"	"00577"	"00577"	"2019-06-13 14:07:44"	""	""	"SEQ"	"DNA"	""	"mosaic in blood"
"0000241444"	"00240340"	"1"	"00577"	"00577"	"2019-06-13 14:18:55"	""	""	"SEQ"	"DNA"	""	"mosaic in fibroblasts, not detected in blood"
"0000241449"	"00240345"	"1"	"00577"	"00577"	"2019-06-13 14:58:57"	""	""	"SEQ"	"DNA"	""	""
"0000241526"	"00240416"	"1"	"00577"	"00577"	"2019-06-20 10:14:33"	""	""	"SEQp"	"DNA"	""	""
"0000249495"	"00248390"	"1"	"00577"	"00577"	"2019-07-23 11:51:01"	"00577"	"2019-07-23 12:33:09"	"SEQ-NG"	"DNA"	""	"WES trio analysis"
"0000249499"	"00248394"	"1"	"00577"	"00577"	"2019-07-23 16:10:21"	""	""	"SEQ"	"DNA"	""	""
"0000249500"	"00248395"	"1"	"00577"	"00577"	"2019-07-23 16:30:40"	""	""	"SEQ"	"DNA"	""	""
"0000249501"	"00248397"	"1"	"00577"	"00577"	"2019-07-23 16:54:08"	""	""	"SEQ"	"DNA"	""	""
"0000249573"	"00248469"	"1"	"00577"	"00577"	"2019-07-24 09:53:04"	""	""	"SEQ"	"DNA"	""	""
"0000249574"	"00248470"	"1"	"00577"	"00577"	"2019-07-24 10:42:23"	""	""	"SEQ"	"DNA"	""	""
"0000249592"	"00248488"	"1"	"00577"	"00577"	"2019-07-24 15:35:59"	""	""	"SEQ"	"DNA"	""	""
"0000249613"	"00248509"	"1"	"00577"	"00577"	"2019-07-24 16:38:49"	""	""	"SEQ"	"DNA"	"fibroblasts"	""
"0000249630"	"00248527"	"1"	"00577"	"00577"	"2019-07-25 10:14:22"	""	""	"SEQ"	"DNA"	""	""
"0000249632"	"00248529"	"1"	"00577"	"00577"	"2019-07-25 10:32:04"	""	""	"SEQ"	"DNA"	""	""
"0000249634"	"00248531"	"1"	"00577"	"00577"	"2019-07-25 10:38:52"	""	""	"SEQ"	"DNA"	""	""
"0000249635"	"00248532"	"1"	"00577"	"00577"	"2019-07-25 11:01:01"	""	""	"SEQ"	"DNA"	"fibroblasts"	""
"0000249638"	"00248535"	"1"	"00577"	"00577"	"2019-07-26 09:39:57"	""	""	"SEQ"	"DNA"	""	""
"0000249640"	"00248537"	"1"	"00577"	"00577"	"2019-07-26 09:52:28"	""	""	"SEQ"	"DNA"	""	""
"0000249644"	"00248542"	"1"	"00577"	"00577"	"2019-07-26 16:07:56"	""	""	"SEQ"	"DNA"	""	""
"0000249953"	"00248851"	"1"	"00577"	"00577"	"2019-07-29 10:31:58"	""	""	"SEQ"	"DNA"	""	""
"0000249954"	"00248852"	"1"	"00577"	"00577"	"2019-07-29 10:53:27"	""	""	"SEQ"	"DNA"	""	""
"0000375312"	"00374119"	"1"	"00006"	"00006"	"2021-05-23 14:33:57"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000383309"	"00382093"	"1"	"00000"	"03840"	"2021-09-07 10:12:12"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000388900"	"00387674"	"1"	"00000"	"03840"	"2021-10-29 23:13:01"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000411852"	"00410587"	"1"	"00006"	"00006"	"2022-05-29 10:39:10"	""	""	"SEQ"	"DNA"	""	"targeted gene analysis"
"0000469443"	"00467777"	"1"	"00006"	"00006"	"2025-10-30 10:25:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000470914"	"00469246"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 224
"{{screeningid}}"	"{{geneid}}"
"0000004146"	"PORCN"
"0000004147"	"PORCN"
"0000004149"	"PORCN"
"0000004150"	"PORCN"
"0000004151"	"PORCN"
"0000133631"	"PORCN"
"0000133632"	"PORCN"
"0000164642"	"PORCN"
"0000232101"	"WNT10B"
"0000232102"	"PORCN"
"0000234951"	"PORCN"
"0000234952"	"PORCN"
"0000234953"	"PORCN"
"0000234954"	"PORCN"
"0000234955"	"PORCN"
"0000234956"	"PORCN"
"0000234957"	"PORCN"
"0000234958"	"PORCN"
"0000234959"	"PORCN"
"0000234960"	"PORCN"
"0000234961"	"PORCN"
"0000234962"	"PORCN"
"0000234963"	"PORCN"
"0000234964"	"PORCN"
"0000234965"	"PORCN"
"0000234966"	"PORCN"
"0000234967"	"PORCN"
"0000234968"	"PORCN"
"0000234969"	"PORCN"
"0000234970"	"PORCN"
"0000234971"	"PORCN"
"0000234972"	"PORCN"
"0000234973"	"PORCN"
"0000234974"	"PORCN"
"0000234975"	"PORCN"
"0000234976"	"PORCN"
"0000234977"	"PORCN"
"0000234978"	"PORCN"
"0000234979"	"PORCN"
"0000234980"	"PORCN"
"0000234981"	"PORCN"
"0000234982"	"PORCN"
"0000234983"	"PORCN"
"0000234984"	"PORCN"
"0000234985"	"PORCN"
"0000234986"	"PORCN"
"0000234987"	"PORCN"
"0000234988"	"PORCN"
"0000234989"	"PORCN"
"0000234990"	"PORCN"
"0000234991"	"PORCN"
"0000234992"	"PORCN"
"0000234993"	"PORCN"
"0000234994"	"PORCN"
"0000234995"	"PORCN"
"0000234996"	"PORCN"
"0000234997"	"PORCN"
"0000234998"	"PORCN"
"0000234999"	"PORCN"
"0000235000"	"PORCN"
"0000235001"	"PORCN"
"0000235002"	"PORCN"
"0000235003"	"PORCN"
"0000235004"	"PORCN"
"0000235005"	"PORCN"
"0000235006"	"PORCN"
"0000235007"	"PORCN"
"0000235008"	"PORCN"
"0000235009"	"PORCN"
"0000235010"	"PORCN"
"0000235011"	"PORCN"
"0000235012"	"PORCN"
"0000235013"	"PORCN"
"0000235014"	"PORCN"
"0000235015"	"PORCN"
"0000235016"	"PORCN"
"0000235017"	"PORCN"
"0000235018"	"PORCN"
"0000235019"	"PORCN"
"0000235020"	"PORCN"
"0000235021"	"PORCN"
"0000235022"	"PORCN"
"0000235023"	"PORCN"
"0000235024"	"PORCN"
"0000235025"	"PORCN"
"0000235026"	"PORCN"
"0000235027"	"PORCN"
"0000235028"	"PORCN"
"0000235029"	"PORCN"
"0000235030"	"PORCN"
"0000235031"	"PORCN"
"0000235032"	"PORCN"
"0000235033"	"PORCN"
"0000235034"	"PORCN"
"0000235035"	"PORCN"
"0000235036"	"PORCN"
"0000235037"	"PORCN"
"0000235038"	"PORCN"
"0000235039"	"PORCN"
"0000235040"	"PORCN"
"0000235041"	"PORCN"
"0000235042"	"PORCN"
"0000235043"	"PORCN"
"0000235044"	"PORCN"
"0000235045"	"PORCN"
"0000235046"	"PORCN"
"0000235047"	"PORCN"
"0000235048"	"PORCN"
"0000235049"	"PORCN"
"0000235050"	"PORCN"
"0000235051"	"PORCN"
"0000235052"	"PORCN"
"0000235053"	"PORCN"
"0000235054"	"PORCN"
"0000235055"	"PORCN"
"0000235056"	"PORCN"
"0000235057"	"PORCN"
"0000235058"	"PORCN"
"0000235059"	"PORCN"
"0000235060"	"PORCN"
"0000235061"	"PORCN"
"0000235062"	"PORCN"
"0000235063"	"PORCN"
"0000235064"	"PORCN"
"0000235065"	"PORCN"
"0000235066"	"PORCN"
"0000235067"	"PORCN"
"0000235068"	"PORCN"
"0000235069"	"PORCN"
"0000235070"	"PORCN"
"0000235071"	"PORCN"
"0000235072"	"PORCN"
"0000235073"	"PORCN"
"0000235074"	"PORCN"
"0000235075"	"PORCN"
"0000235076"	"PORCN"
"0000235077"	"PORCN"
"0000235078"	"PORCN"
"0000235079"	"PORCN"
"0000235080"	"PORCN"
"0000235081"	"PORCN"
"0000235082"	"PORCN"
"0000235083"	"PORCN"
"0000235084"	"PORCN"
"0000235085"	"PORCN"
"0000235086"	"PORCN"
"0000235087"	"PORCN"
"0000235088"	"PORCN"
"0000235089"	"PORCN"
"0000235090"	"PORCN"
"0000235091"	"PORCN"
"0000235092"	"PORCN"
"0000235093"	"PORCN"
"0000235094"	"PORCN"
"0000235095"	"PORCN"
"0000235096"	"PORCN"
"0000235097"	"PORCN"
"0000235098"	"PORCN"
"0000235099"	"PORCN"
"0000235100"	"PORCN"
"0000235101"	"PORCN"
"0000235102"	"PORCN"
"0000235103"	"PORCN"
"0000235104"	"PORCN"
"0000235105"	"PORCN"
"0000235106"	"PORCN"
"0000235107"	"PORCN"
"0000235108"	"PORCN"
"0000235109"	"PORCN"
"0000235110"	"PORCN"
"0000235111"	"PORCN"
"0000235112"	"PORCN"
"0000235113"	"PORCN"
"0000235114"	"PORCN"
"0000236433"	"PORCN"
"0000236443"	"PORCN"
"0000236492"	"PORCN"
"0000240087"	"PORCN"
"0000240088"	"PORCN"
"0000240089"	"PORCN"
"0000240205"	"PORCN"
"0000240210"	"PORCN"
"0000240265"	"PORCN"
"0000240268"	"PORCN"
"0000240278"	"PORCN"
"0000240279"	"PORCN"
"0000240280"	"PORCN"
"0000240281"	"PORCN"
"0000240282"	"PORCN"
"0000240283"	"PORCN"
"0000240284"	"PORCN"
"0000240285"	"PORCN"
"0000240286"	"PORCN"
"0000240287"	"PORCN"
"0000240288"	"PORCN"
"0000240720"	"PORCN"
"0000241329"	"PORCN"
"0000241330"	"PORCN"
"0000241331"	"PORCN"
"0000241436"	"PORCN"
"0000241443"	"PORCN"
"0000241444"	"PORCN"
"0000241449"	"PORCN"
"0000241526"	"PORCN"
"0000249495"	"PORCN"
"0000249499"	"PORCN"
"0000249500"	"PORCN"
"0000249501"	"PORCN"
"0000249573"	"PORCN"
"0000249574"	"PORCN"
"0000249592"	"PORCN"
"0000249613"	"PORCN"
"0000249630"	"PORCN"
"0000249632"	"PORCN"
"0000249634"	"PORCN"
"0000249635"	"PORCN"
"0000249638"	"PORCN"
"0000249640"	"PORCN"
"0000249644"	"PORCN"
"0000249953"	"PORCN"
"0000249954"	"PORCN"
"0000375312"	"PORCN"
"0000383309"	"PORCN"
"0000388900"	"PORCN"


## 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 = 287
"{{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}}"
"0000001919"	"0"	"50"	"X"	"48379009"	"48379010"	"del"	"0"	"00037"	"PORCN_000124"	"g.48379009_48379010del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.48520621_48520622del"	""	"VUS"	""
"0000002946"	"0"	"50"	"X"	"48378985"	"48378986"	"del"	"0"	"00037"	"PORCN_000123"	"g.48378985_48378986del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.48520597_48520598del"	""	"VUS"	""
"0000006796"	"20"	"50"	"X"	"48367540"	"48367540"	"subst"	"0"	"00037"	"PORCN_000120"	"g.48367540C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.48509152C>T"	""	"VUS"	""
"0000006797"	"20"	"50"	"X"	"48367735"	"48367735"	"subst"	"0"	"00037"	"PORCN_000125"	"g.48367735T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.48509347T>C"	""	"VUS"	""
"0000006798"	"20"	"50"	"X"	"48367741"	"48367741"	"subst"	"0"	"00037"	"PORCN_000126"	"g.48367741C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.48509353C>T"	""	"VUS"	""
"0000006799"	"20"	"50"	"X"	"48370473"	"48370473"	"subst"	"0"	"00037"	"PORCN_000121"	"g.48370473G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.48512085G>A"	""	"VUS"	""
"0000006800"	"20"	"50"	"X"	"48375425"	"48375425"	"subst"	"0"	"00037"	"PORCN_000122"	"g.48375425C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.48517037C>T"	""	"VUS"	""
"0000008874"	"20"	"50"	"X"	"48367540"	"48367540"	"subst"	"0"	"00037"	"PORCN_000120"	"g.48367540C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.48509152C>T"	""	"VUS"	""
"0000008875"	"20"	"50"	"X"	"48367735"	"48367735"	"subst"	"0"	"00037"	"PORCN_000125"	"g.48367735T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.48509347T>C"	""	"VUS"	""
"0000008876"	"20"	"50"	"X"	"48367741"	"48367741"	"subst"	"0"	"00037"	"PORCN_000126"	"g.48367741C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.48509353C>T"	""	"VUS"	""
"0000008877"	"20"	"50"	"X"	"48370473"	"48370473"	"subst"	"0"	"00037"	"PORCN_000121"	"g.48370473G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.48512085G>A"	""	"VUS"	""
"0000023107"	"21"	"75"	"X"	"48370810"	"48370810"	"subst"	"0"	"00574"	"PORCN_000127"	"g.48370810G>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.48512422G>A"	""	"likely pathogenic"	""
"0000023108"	"21"	"75"	"X"	"48370810"	"48370810"	"subst"	"0"	"00574"	"PORCN_000127"	"g.48370810G>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.48512422G>A"	""	"likely pathogenic"	""
"0000023109"	"21"	"75"	"X"	"48370810"	"48370810"	"subst"	"0"	"00574"	"PORCN_000127"	"g.48370810G>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.48512422G>A"	""	"likely pathogenic"	""
"0000023111"	"21"	"75"	"X"	"48370810"	"48370810"	"subst"	"0"	"00574"	"PORCN_000127"	"g.48370810G>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.48512422G>A"	""	"likely pathogenic"	""
"0000023112"	"0"	"75"	"X"	"48370810"	"48370810"	"subst"	"0"	"00574"	"PORCN_000127"	"g.48370810G>A"	""	""	""	""	""	"Unknown"	"yes"	""	"0"	""	""	"g.48512422G>A"	""	"likely pathogenic"	""
"0000222872"	"20"	"50"	"X"	"48370827"	"48370827"	"subst"	"0"	"02308"	"PORCN_000128"	"g.48370827G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.48512439G>A"	""	"VUS"	""
"0000222873"	"20"	"70"	"X"	"48370827"	"48370827"	"subst"	"0"	"02308"	"PORCN_000128"	"g.48370827G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.48512439G>A"	""	"likely pathogenic"	""
"0000250522"	"0"	"90"	"X"	"48371071"	"48371071"	"del"	"0"	"02329"	"PORCN_000130"	"g.48371071del"	""	""	""	"PORCN(NM_001282167.2):c.437delA (p.Y146Sfs*57)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.48512683del"	""	"pathogenic"	""
"0000299060"	"0"	"70"	"X"	"48371005"	"48371005"	"subst"	"0"	"02329"	"PORCN_000129"	"g.48371005G>C"	""	""	""	"PORCN(NM_001282167.2):c.371G>C (p.R124P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.48512617G>C"	""	"likely pathogenic"	""
"0000306213"	"0"	"50"	"X"	"48372702"	"48372702"	"subst"	"6.72032E-5"	"01943"	"PORCN_000131"	"g.48372702C>T"	""	""	""	"PORCN(NM_001282167.1):c.548C>T (p.T183M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.48514314C>T"	""	"VUS"	""
"0000306214"	"0"	"30"	"X"	"48372730"	"48372730"	"subst"	"2.83667E-5"	"01943"	"PORCN_000132"	"g.48372730C>T"	""	""	""	"PORCN(NM_001282167.1):c.576C>T (p.T192=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.48514342C>T"	""	"likely benign"	""
"0000333984"	"0"	"50"	"X"	"48375632"	"48375632"	"subst"	"0"	"01804"	"PORCN_000133"	"g.48375632A>T"	""	""	""	"PORCN(NM_022825.2):c.1202A>T (p.(Tyr401Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.48517244A>T"	""	"VUS"	""
"0000333985"	"0"	"50"	"X"	"48382334"	"48382334"	"subst"	"5.59394E-6"	"01804"	"EBP_000012"	"g.48382334G>A"	""	""	""	"EBP(NM_006579.2):c.175G>A (p.(Gly59Arg)), EBP(NM_006579.3):c.175G>A (p.G59R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.48523946G>A"	""	"VUS"	""
"0000347734"	"0"	"50"	"X"	"48370290"	"48370290"	"subst"	"0"	"02327"	"PORCN_000134"	"g.48370290A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.48511902A>G"	""	"VUS"	""
"0000368214"	"0"	"90"	"X"	"48369751"	"48369751"	"subst"	"0"	"01741"	"PORCN_000135"	"g.48369751C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48511363C>T"	""	"pathogenic"	""
"0000474418"	"21"	"57"	"X"	"48370318"	"48370318"	"subst"	"0"	"01962"	"PORCN_000136"	"g.48370318T>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.48511930T>G"	""	"VUS"	""
"0000474419"	"0"	"77"	"X"	"48374309"	"48374309"	"subst"	"0"	"01962"	"PORCN_000137"	"g.48374309T>C"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.48515921T>C"	""	"likely pathogenic"	""
"0000477693"	"0"	"99"	"X"	"48368209"	"48368209"	"subst"	"0"	"00577"	"PORCN_000001"	"g.48368209A>G"	""	"{PMID:Lombardi 2011:21472892}"	""	"p.Met1?"	""	"De novo"	""	""	"0"	""	""	"g.48509821A>G"	""	"pathogenic (dominant)"	""
"0000477694"	"0"	"99"	"X"	"48368211"	"48368211"	"subst"	"0"	"00577"	"PORCN_000002"	"g.48368211G>A"	""	"{PMID:Bornholdt 2009:19309688}"	""	"p.Met1Ile"	""	"Germline"	""	""	"0"	"X-inactivation 79/21"	""	"g.48509823G>A"	""	"pathogenic (dominant)"	""
"0000477695"	"0"	"99"	"X"	"48368257"	"48368257"	"dup"	"0"	"00577"	"PORCN_000003"	"g.48368257dup"	""	"{PMID:Harmsen 2009:19277062}"	""	"49dupT"	""	"De novo"	""	""	"0"	"X-inactivation 54/46"	""	"g.48509869dup"	""	"pathogenic (dominant)"	""
"0000477696"	"0"	"99"	"X"	"48368261"	"48368261"	"dup"	"0"	"00577"	"PORCN_000004"	"g.48368261dup"	""	"{PMID:Wang 2007:17546030}"	""	"49dupT (Leu18LeufsX10)"	""	"De novo"	""	""	"0"	"X-inactivation 50/50"	""	"g.48509873dup"	""	"pathogenic (dominant)"	""
"0000477697"	"0"	"99"	"X"	"48368282"	"48368282"	"del"	"0"	"00577"	"PORCN_000005"	"g.48368282del"	""	"{PMID:Clements 2009:19292719}"	""	"74delG"	""	"Germline"	""	""	"0"	"X-inactivation 66.6/33.4"	""	"g.48509894del"	""	"pathogenic (dominant)"	""
"0000477698"	"0"	"99"	"X"	"48369712"	"48369713"	"dup"	"0"	"00577"	"PORCN_000006"	"g.48369712_48369713dup"	""	"{PMID:Harmsen 2009:19277062}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation 83/17"	""	"g.48511324_48511325dup"	""	"pathogenic (dominant)"	""
"0000477699"	"21"	"99"	"X"	"48369712"	"48369713"	"dup"	"0"	"00577"	"PORCN_000006"	"g.48369712_48369713dup"	""	"{PMID:Harmsen 2009:19277062}"	""	""	"mother to daughter transmission"	"Germline"	""	""	"0"	"X-inactivation 80/20"	""	"g.48511324_48511325dup"	""	"pathogenic (dominant)"	""
"0000477700"	"21"	"99"	"X"	"48369724"	"48369724"	"subst"	"0"	"00577"	"PORCN_000007"	"g.48369724G>A"	""	"{PMID:Wang 2007:17546030}"	""	""	"mother low level mosaicism"	"Germline"	""	""	"0"	"X-inactivation 63/37"	""	"g.48511336G>A"	""	"pathogenic (dominant)"	""
"0000477701"	"0"	"99"	"X"	"48369724"	"48369724"	"subst"	"0"	"00577"	"PORCN_000007"	"g.48369724G>A"	""	"{PMID:Wang 2007:17546030}"	""	""	""	"De novo"	""	""	"0"	"X-inactivation 50/50"	""	"g.48511336G>A"	""	"pathogenic (dominant)"	""
"0000477702"	"0"	"99"	"X"	"48369767"	"48369767"	"subst"	"0"	"00577"	"PORCN_000008"	"g.48369767G>A"	""	"{PMID:Harmsen 2009:19277062}"	""	""	""	"De novo"	""	""	"0"	"X-inactivation 76/24"	""	"g.48511379G>A"	""	"pathogenic (dominant)"	""
"0000477703"	"0"	"99"	"X"	"48369768"	"48369768"	"subst"	"0"	"00577"	"PORCN_000009"	"g.48369768G>A"	""	"{PMID:Grzeschik 2007:17546031}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation 65/35"	""	"g.48511380G>A"	""	"pathogenic (dominant)"	""
"0000477704"	"0"	"99"	"X"	"48369814"	"48369814"	"subst"	"0"	"00577"	"PORCN_000010"	"g.48369814C>T"	""	"{PMID:Wang 2007:17546030}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation 81/19"	""	"g.48511426C>T"	""	"pathogenic (dominant)"	""
"0000477705"	"0"	"99"	"X"	"48369814"	"48369814"	"subst"	"0"	"00577"	"PORCN_000010"	"g.48369814C>T"	""	"{PMID:Bornholdt 2009:19309688}"	""	""	"postzygotic mosaic"	"Somatic"	""	""	"0"	"X-inactivation 60/40"	""	"g.48511426C>T"	""	"pathogenic (dominant)"	""
"0000477706"	"0"	"99"	"X"	"48369814"	"48369814"	"subst"	"0"	"00577"	"PORCN_000010"	"g.48369814C>T"	""	"{PMID:Harmsen 2009:19277062}"	""	""	"mosaic"	"Somatic"	""	""	"0"	"X-inactivation 37/63"	""	"g.48511426C>T"	""	"pathogenic (dominant)"	""
"0000477707"	"0"	"99"	"X"	"48369829"	"48369829"	"subst"	"0"	"00577"	"PORCN_000011"	"g.48369829C>T"	""	"{PMID:Bornholdt 2009:19309688}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation 55/45"	""	"g.48511441C>T"	""	"pathogenic (dominant)"	""
"0000477708"	"0"	"99"	"X"	"48369829"	"48369829"	"subst"	"0"	"00577"	"PORCN_000011"	"g.48369829C>T"	""	"{PMID:Maas 2009:19586929}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.48511441C>T"	""	"pathogenic (dominant)"	""
"0000477709"	"0"	"99"	"X"	"48370320"	"48370320"	"subst"	"0"	"00577"	"PORCN_000012"	"g.48370320C>T"	""	"{PMID:Wang 2007:17546030}"	""	""	"mosaic"	"Somatic"	""	""	"0"	""	""	"g.48511932C>T"	""	"pathogenic (dominant)"	""
"0000477710"	"0"	"99"	"X"	"48370320"	"48370320"	"subst"	"0"	"00577"	"PORCN_000012"	"g.48370320C>T"	""	"{PMID:Grzeschik 2007:17546031}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation 50/50"	""	"g.48511932C>T"	""	"pathogenic (dominant)"	""
"0000477711"	"0"	"99"	"X"	"48370320"	"48370320"	"subst"	"0"	"00577"	"PORCN_000012"	"g.48370320C>T"	""	"{PMID:Grzeschik 2007:17546031}"	""	""	"postzygotic mosaic"	"Somatic"	""	""	"0"	"X-inactivation 50/50"	""	"g.48511932C>T"	""	"pathogenic (dominant)"	""
"0000477712"	"0"	"99"	"X"	"48370320"	"48370320"	"subst"	"0"	"00577"	"PORCN_000012"	"g.48370320C>T"	""	"{PMID:Bornholdt 2009:19309688}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation 52/48"	""	"g.48511932C>T"	""	"pathogenic (dominant)"	""
"0000477713"	"0"	"99"	"X"	"48370320"	"48370320"	"subst"	"0"	"00577"	"PORCN_000012"	"g.48370320C>T"	""	"MP Lombardi (unpublished)"	""	""	""	"De novo"	""	""	"0"	""	""	"g.48511932C>T"	""	"pathogenic (dominant)"	""
"0000477714"	"0"	"99"	"X"	"48370324"	"48370324"	"subst"	"0"	"00577"	"PORCN_000013"	"g.48370324G>A"	""	"{PMID:Leoyklang 2009:18325042}"	""	""	""	"De novo"	""	""	"0"	"X-inactivation 61/39"	""	"g.48511936G>A"	""	"pathogenic (dominant)"	""
"0000477715"	"0"	"99"	"X"	"48370713"	"48370713"	"subst"	"0"	"00577"	"PORCN_000014"	"g.48370713G>A"	""	"{PMID:Bornholdt 2009:19309688}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation 84/16"	""	"g.48512325G>A"	""	"pathogenic (dominant)"	""
"0000477716"	"0"	"95"	"X"	"48370699"	"48370699"	"subst"	"0"	"00577"	"PORCN_000015"	"g.48370699T>A"	""	"{PMID:Schaffer 2009:19221286}"	""	""	"de novo (inferred)\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000477717"	"0"	"99"	"X"	"48370668"	"48370668"	"subst"	"0"	"00577"	"PORCN_000016"	"g.48370668T>A"	""	"{PMID:Harmsen 2009:19277062}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation 86/14"	""	"g.48512280T>A"	""	"pathogenic (dominant)"	""
"0000477718"	"0"	"99"	"X"	"48370747"	"48370747"	"subst"	"0"	"00577"	"PORCN_000017"	"g.48370747C>T"	""	"{PMID:Bornholdt 2009:19309688}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation 57/43"	""	"g.48512359C>T"	""	"pathogenic (dominant)"	""
"0000477719"	"0"	"99"	"X"	"48370819"	"48370819"	"dup"	"0"	"00577"	"PORCN_000018"	"g.48370819dup"	""	"{PMID:Wang 2007:17546030}"	""	"479dupA"	""	"De novo"	""	""	"0"	"X-inactivation 52/48"	""	"g.48512431dup"	""	"pathogenic (dominant)"	""
"0000477720"	"0"	"99"	"X"	"48370842"	"48370842"	"subst"	"0"	"00577"	"PORCN_000019"	"g.48370842G>A"	""	"{PMID:Bornholdt 2009:19309688}"	""	""	"postzygotic mosaic"	"Somatic"	""	""	"0"	""	""	"g.48512454G>A"	""	"pathogenic (dominant)"	""
"0000477721"	"0"	"99"	"X"	"48370842"	"48370842"	"subst"	"0"	"00577"	"PORCN_000019"	"g.48370842G>A"	""	"{PMID:Bornholdt 2009:19309688}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation 50/50"	""	"g.48512454G>A"	""	"pathogenic (dominant)"	""
"0000477722"	"0"	"99"	"X"	"48370842"	"48370842"	"subst"	"0"	"00577"	"PORCN_000019"	"g.48370842G>A"	""	"{PMID:Maas 2009:19586929}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.48512454G>A"	""	"pathogenic (dominant)"	""
"0000477723"	"0"	"99"	"X"	"48370849"	"48370849"	"subst"	"0"	"00577"	"PORCN_000020"	"g.48370849G>A"	""	"{PMID:Maas 2009:19586929}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48512461G>A"	""	"pathogenic (dominant)"	""
"0000477724"	"0"	"99"	"X"	"48370849"	"48370849"	"subst"	"0"	"00577"	"PORCN_000020"	"g.48370849G>A"	""	"{PMID:Harmsen 2009:19277062}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation 34/66"	""	"g.48512461G>A"	""	"pathogenic (dominant)"	""
"0000477725"	"0"	"99"	"X"	"48370992"	"48370992"	"subst"	"0"	"00577"	"PORCN_000021"	"g.48370992C>T"	""	"{PMID:Maas 2009:19586929}"	""	""	"postzygotic mosaic"	"Somatic"	""	""	"0"	""	""	"g.48512604C>T"	""	"pathogenic (dominant)"	""
"0000477726"	"0"	"99"	"X"	"48370998"	"48370998"	"del"	"0"	"00577"	"PORCN_000022"	"g.48370998del"	""	"{PMID:Wang 2007:17546030}"	""	"576delG"	""	"De novo"	""	""	"0"	"X-inactivation 65/35"	""	"g.48512610del"	""	"pathogenic (dominant)"	""
"0000477727"	"0"	"99"	"X"	"48371058"	"48371058"	"del"	"0"	"00577"	"PORCN_000023"	"g.48371058del"	""	"{PMID:Maas 2009:19586929}"	""	"637delT"	""	"De novo"	""	""	"0"	""	""	"g.48512670del"	""	"pathogenic (dominant)"	""
"0000477728"	"21"	"33"	"X"	"48371103"	"48371103"	"subst"	"0"	"00577"	"PORCN_000024"	"g.48371103C>T"	""	"{PMID:Leoyklang 2009:18325042}"	""	""	"inherited from unaffected mother"	"Germline"	""	""	"0"	"X-inactivation 82/18"	""	"g.48512715C>T"	""	"likely benign"	""
"0000477729"	"0"	"99"	"X"	"48372645"	"48372645"	"dup"	"0"	"00577"	"PORCN_000028"	"g.48372645dup"	""	"{PMID:Leoyklang 2009:18325042}"	""	"737_738insA; p.Ser247GlufsX315"	""	"De novo"	""	""	"0"	"X-inactivation 82/18"	""	"g.48514257dup"	""	"pathogenic (dominant)"	""
"0000477730"	"0"	"99"	"X"	"48372626"	"48372626"	"subst"	"0"	"00577"	"PORCN_000025"	"g.48372626A>T"	""	"{PMID:Grzeschik 2007:17546031}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation 55/45"	""	"g.48514238A>T"	""	"pathogenic (dominant)"	""
"0000477731"	"0"	"99"	"X"	"48372635"	"48372635"	"subst"	"0"	"00577"	"PORCN_000026"	"g.48372635C>T"	""	"{PMID:Grzeschik 2007:17546031}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation 65/35"	""	"g.48514247C>T"	""	"pathogenic (dominant)"	""
"0000477732"	"0"	"99"	"X"	"48372635"	"48372635"	"subst"	"0"	"00577"	"PORCN_000026"	"g.48372635C>T"	""	"{PMID:Harmsen 2009:19277062}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation non informative"	""	"g.48514247C>T"	""	"pathogenic (dominant)"	""
"0000477733"	"0"	"99"	"X"	"48372635"	"48372635"	"subst"	"0"	"02310"	"PORCN_000026"	"g.48372635C>T"	""	"MP Lombardi (unpublished)"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48514247C>T"	""	"pathogenic (dominant)"	""
"0000477734"	"0"	"99"	"X"	"48372635"	"48372635"	"subst"	"0"	"00577"	"PORCN_000026"	"g.48372635C>T"	""	"{PMID:Smigiel 2011:21484999}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48514247C>T"	""	"pathogenic (dominant)"	""
"0000477735"	"0"	"99"	"X"	"48372662"	"48372662"	"subst"	"0"	"00577"	"PORCN_000027"	"g.48372662C>T"	""	"{PMID:Lombardi 2011:21472892}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.48514274C>T"	""	"pathogenic (dominant)"	""
"0000477736"	"0"	"99"	"X"	"48372681"	"48372681"	"subst"	"0"	"00577"	"PORCN_000029"	"g.48372681T>A"	""	"{PMID:Bornholdt 2009:19309688}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation 82/18"	""	"g.48514293T>A"	""	"pathogenic (dominant)"	""
"0000477737"	"0"	"99"	"X"	"48372695"	"48372700"	"dup"	"0"	"00577"	"PORCN_000030"	"g.48372695_48372700dup"	""	"{PMID:Wang 2007:17546030}"	""	"p.Glu262_Ala263dup"	""	"De novo"	""	""	"0"	"X-inactivation 90/10"	""	"g.48514307_48514312dup"	""	"pathogenic (dominant)"	""
"0000477738"	"0"	"99"	"X"	"48372723"	"48372724"	"dup"	"0"	"00577"	"PORCN_000031"	"g.48372723_48372724dup"	""	"{PMID:Grzeschik 2007:17546031}"	""	"816_817insGC; p.Phe273fsX284"	"postzygotic mosaic"	"Somatic"	""	""	"0"	"X-inactivation 60/40"	""	"g.48514335_48514336dup"	""	"pathogenic (dominant)"	""
"0000477739"	"0"	"99"	"X"	"48372913"	"48372913"	"subst"	"0"	"00577"	"PORCN_000032"	"g.48372913G>A"	""	"{PMID:Clements 2009:19292719}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation non informative"	""	"g.48514525G>A"	""	"pathogenic (dominant)"	""
"0000477740"	"0"	"99"	"X"	"48372913"	"48372946"	"del"	"0"	"00577"	"PORCN_000033"	"g.48372913_48372946del"	""	"{PMID:Bornholdt 2009:19309688}"	""	"p.Trp282fsX302"	""	"Germline"	""	""	"0"	"X-inactivation 62/38"	""	"g.48514525_48514558del"	""	"pathogenic (dominant)"	""
"0000477741"	"0"	"99"	"X"	"48372957"	"48372957"	"subst"	"0"	"00577"	"PORCN_000034"	"g.48372957C>T"	""	"{PMID:Maas 2009:19586929}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.48514569C>T"	""	"pathogenic (dominant)"	""
"0000477742"	"0"	"99"	"X"	"48372957"	"48372957"	"subst"	"0"	"00577"	"PORCN_000034"	"g.48372957C>T"	""	"{PMID:Maas 2009:19586929}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.48514569C>T"	""	"pathogenic (dominant)"	""
"0000477743"	"0"	"99"	"X"	"48372965"	"48372965"	"subst"	"0"	"00577"	"PORCN_000035"	"g.48372965G>T"	""	"{PMID:Clements 2008:17951029}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.48514577G>T"	""	"pathogenic (dominant)"	""
"0000477744"	"0"	"99"	"X"	"48372981"	"48372981"	"subst"	"0"	"00577"	"PORCN_000036"	"g.48372981G>A"	""	"{PMID:Lombardi 2011:21472892}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48514593G>A"	""	"pathogenic (dominant)"	""
"0000477745"	"0"	"99"	"X"	"48372991"	"48372991"	"del"	"0"	"00577"	"PORCN_000037"	"g.48372991del"	""	"{PMID:Grzeschik 2007:17546031}"	""	"924delC (308fsX313)"	""	"Germline"	""	""	"0"	"X-inactivation 80/20"	""	"g.48514603del"	""	"pathogenic (dominant)"	""
"0000477746"	"0"	"99"	"X"	"48373002"	"48373002"	"subst"	"0"	"00577"	"PORCN_000038"	"g.48373002G>A"	""	"{PMID:Bornholdt 2009:19309688}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation non informative"	""	"g.48514614G>A"	""	"pathogenic (dominant)"	""
"0000477747"	"0"	"99"	"X"	"48374103"	"48374103"	"subst"	"0"	"00577"	"PORCN_000039"	"g.48374103A>C"	""	"{PMID:Maas 2009:19586929}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation 95/5"	""	"g.48515715A>C"	""	"pathogenic (dominant)"	""
"0000477748"	"20"	"99"	"X"	"48374103"	"48374103"	"subst"	"0"	"00577"	"PORCN_000039"	"g.48374103A>C"	""	"{PMID:Maas 2009:19586929}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48515715A>C"	""	"pathogenic (dominant)"	""
"0000477749"	"0"	"99"	"X"	"48374104"	"48374104"	"subst"	"0"	"00577"	"PORCN_000040"	"g.48374104G>C"	""	"{PMID:Lombardi 2011:21472892}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48515716G>C"	""	"pathogenic (dominant)"	""
"0000477750"	"0"	"99"	"X"	"48374150"	"48374150"	"subst"	"0"	"00577"	"PORCN_000041"	"g.48374150T>G"	""	"{PMID:Froyen 2009:19863546}"	""	""	""	"De novo"	""	""	"0"	"X-inactivation 94/6"	""	"g.48515762T>G"	""	"pathogenic (dominant)"	""
"0000477751"	"0"	"99"	"X"	"48374180"	"48374180"	"subst"	"0"	"00577"	"PORCN_000042"	"g.48374180A>T"	""	"{PMID:Bornholdt 2009:19309688}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation 50/50"	""	"g.48515792A>T"	""	"pathogenic (dominant)"	""
"0000477752"	"0"	"99"	"X"	"48374299"	"48374319"	"del"	"0"	"00577"	"PORCN_000043"	"g.48374299_48374319del"	""	"{PMID:Wang 2007:17546030}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation 50/50"	""	"g.48515911_48515931del"	""	"pathogenic (dominant)"	""
"0000477753"	"0"	"99"	"X"	"48374313"	"48374325"	"dup"	"0"	"00577"	"PORCN_000044"	"g.48374313_48374325dup"	""	"{PMID:Wang 2007:17546030}"	""	""	"father mosaic for mutation"	"Germline"	""	""	"0"	"X-inactivation non informative"	""	"g.48515925_48515937dup"	""	"pathogenic (dominant)"	""
"0000477754"	"0"	"99"	"X"	"48374313"	"48374325"	"dup"	"0"	"00577"	"PORCN_000044"	"g.48374313_48374325dup"	""	"{PMID:Wang 2007:17546030}"	""	""	"mosaic"	"Somatic"	""	""	"0"	""	""	"g.48515925_48515937dup"	""	"pathogenic (dominant)"	""
"0000477755"	"0"	"99"	"X"	"48374315"	"48374316"	"ins"	"0"	"00577"	"PORCN_000074"	"g.48374315_48374316insAGGACCCT"	""	"{PMID:Grzeschik 2007:17546031}"	""	"p.L354fsX401"	"postzygotic mosaic"	"Somatic"	""	""	"0"	"X-inactivation non informative"	""	"g.48515927_48515928insAGGACCCT"	""	"pathogenic (dominant)"	""
"0000477756"	"0"	"99"	"X"	"48374318"	"48374335"	"del"	"0"	"00577"	"PORCN_000045"	"g.48374318_48374335del"	""	"{PMID:Wang 2007:17546030}"	""	"p.Ala355_Val360del6"	"mosaic"	"Somatic"	""	""	"0"	""	""	"g.48515930_48515947del"	""	"pathogenic (dominant)"	""
"0000477757"	"21"	"99"	"X"	"48374331"	"48374331"	"subst"	"0"	"00577"	"PORCN_000046"	"g.48374331C>A"	""	"{PMID:Bornholdt 2009:19309688}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation 96/4"	""	"g.48515943C>A"	""	"pathogenic (dominant)"	""
"0000477758"	"0"	"99"	"X"	"48374336"	"48374336"	"subst"	"0"	"00577"	"PORCN_000047"	"g.48374336A>T"	""	"{PMID:Harmsen 2009:19277062}"	""	""	""	"De novo"	""	""	"0"	"X-inactivation 32/38"	""	"g.48515948A>T"	""	"pathogenic (dominant)"	""
"0000477759"	"0"	"99"	"X"	"48374454"	"48374454"	"subst"	"0"	"00577"	"PORCN_000048"	"g.48374454C>G"	""	"{PMID:Wang 2007:17546030}"	""	""	"mosaic"	"Somatic"	""	""	"0"	""	""	"g.48516066C>G"	""	"pathogenic (dominant)"	""
"0000477760"	"0"	"99"	"X"	"48374455"	"48374455"	"subst"	"0"	"00577"	"PORCN_000049"	"g.48374455G>A"	""	"{PMID:Bornholdt 2009:19309688}"	""	""	"postzygotic mosaic"	"Somatic"	""	""	"0"	"X-inactivation non informative"	""	"g.48516067G>A"	""	"pathogenic (dominant)"	""
"0000477761"	"0"	"99"	"X"	"48374455"	"48374455"	"subst"	"0"	"00577"	"PORCN_000049"	"g.48374455G>A"	""	"{PMID:Maas 2009:19586929}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48516067G>A"	""	"pathogenic (dominant)"	""
"0000477762"	"0"	"99"	"X"	"48374455"	"48374455"	"subst"	"0"	"00577"	"PORCN_000049"	"g.48374455G>A"	""	"{PMID:Leoyklang 2009:18325042}"	""	""	""	"De novo"	""	""	"0"	"X-inactivation 44/56"	""	"g.48516067G>A"	""	"pathogenic (dominant)"	""
"0000477763"	"0"	"99"	"X"	"48374455"	"48374455"	"subst"	"0"	"00577"	"PORCN_000049"	"g.48374455G>A"	""	"{PMID:Froyen 2009:19863546}"	""	""	""	"De novo"	""	""	"0"	"X-inactivation 45/55"	""	"g.48516067G>A"	""	"pathogenic (dominant)"	""
"0000477764"	"0"	"99"	"X"	"48374471"	"48374471"	"del"	"0"	"00577"	"PORCN_000050"	"g.48374471del"	""	"{PMID:Bornholdt 2009:19309688}"	""	"1110delG (Arg370fsX398)"	"postzygotic mosaic"	"Somatic"	""	""	"0"	""	""	"g.48516083del"	""	"pathogenic (dominant)"	""
"0000477765"	"0"	"99"	"X"	"48375611"	"48375612"	"ins"	"0"	"00577"	"PORCN_000051"	"g.48375611_48375612insAGA"	""	"{PMID:Wang 2007:17546030}"	""	""	""	"De novo"	""	""	"0"	"X-inactivation 100/0"	""	"g.48517223_48517224insAGA"	""	"pathogenic (dominant)"	""
"0000477766"	"0"	"99"	"X"	"48374481"	"48374481"	"subst"	"0"	"00577"	"PORCN_000052"	"g.48374481G>C"	""	"{PMID:Maas 2009:19586929}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48516093G>C"	""	"pathogenic (dominant)"	""
"0000477767"	"0"	"99"	"X"	"48374514"	"48374514"	"subst"	"0"	"00577"	"PORCN_000053"	"g.48374514T>C"	""	"{PMID:Bornholdt 2009:19309688}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation 70/30"	""	"g.48516126T>C"	""	"pathogenic (dominant)"	""
"0000477768"	"0"	"99"	"X"	"48374515"	"48374515"	"subst"	"0"	"00577"	"PORCN_000054"	"g.48374515G>A"	""	"{PMID:Harmsen 2009:19277062}"	""	""	"father mildly affected, mutation not found in lymphocytes"	"Somatic"	""	""	"0"	"X-inactivation 55/45"	""	"g.48516127G>A"	""	"pathogenic (dominant)"	""
"0000477769"	"0"	"99"	"X"	"48375583"	"48375583"	"subst"	"0"	"00577"	"PORCN_000055"	"g.48375583C>T"	""	"{PMID:Bornholdt 2009:19309688}"	""	""	"postzygotic mosaic"	"Somatic"	""	""	"0"	""	""	"g.48517195C>T"	""	"pathogenic (dominant)"	""
"0000477770"	"0"	"99"	"X"	"48375583"	"48375583"	"subst"	"0"	"00577"	"PORCN_000055"	"g.48375583C>T"	""	"{PMID:Harmsen 2009:19277062}"	""	""	"mosaic"	"Somatic"	""	""	"0"	"X-inactivation 41/59"	""	"g.48517195C>T"	""	"pathogenic (dominant)"	""
"0000477771"	"0"	"99"	"X"	"48375682"	"48375682"	"subst"	"0"	"00577"	"PORCN_000056"	"g.48375682G>A"	""	"{PMID:Maas 2009:19586929}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.48517294G>A"	""	"pathogenic (dominant)"	""
"0000477772"	"0"	"99"	"X"	"48378763"	"48378775"	"del"	"0"	"00577"	"PORCN_000057"	"g.48378763_48378775del"	""	"{PMID:Bornholdt 2009:19309688}"	""	"p.Gly429fsX456"	""	"Germline"	""	""	"0"	"X-inactivation 55/45"	""	"g.48520375_48520387del"	""	"pathogenic (dominant)"	""
"0000477773"	"0"	"99"	"X"	"48378768"	"48378768"	"subst"	"0"	"00577"	"PORCN_000058"	"g.48378768C>A"	""	"{PMID:Bornholdt 2009:19309688}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation 68/32"	""	"g.48520380C>A"	""	"pathogenic (dominant)"	""
"0000477774"	"0"	"99"	"X"	"48378768"	"48378768"	"subst"	"0"	"00577"	"PORCN_000058"	"g.48378768C>A"	""	"{PMID:Harmsen 2009:19277062}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation 58/42"	""	"g.48520380C>A"	""	"pathogenic (dominant)"	""
"0000477775"	"0"	"99"	"X"	"48378793"	"48378793"	"subst"	"0"	"00577"	"PORCN_000059"	"g.48378793T>C"	""	"{PMID:Bornholdt 2009:19309688}"	""	""	"postzygotic mosaic"	"Somatic"	""	""	"0"	""	""	"g.48520405T>C"	""	"pathogenic (dominant)"	""
"0000477776"	"0"	"99"	"X"	"48378795"	"48378795"	"subst"	"0"	"00577"	"PORCN_000060"	"g.48378795G>A"	""	"{PMID:Harmsen 2009:19277062}"	""	""	""	"De novo"	""	""	"0"	"X-inactivation 53/47"	""	"g.48520407G>A"	""	"pathogenic (dominant)"	""
"0000477777"	"0"	"99"	"X"	"48378809"	"48378809"	"subst"	"0"	"00577"	"PORCN_000061"	"g.48378809G>A"	""	"{PMID:Maas 2009:19586929}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48520421G>A"	""	"pathogenic (dominant)"	""
"0000477778"	"0"	"99"	"X"	"48378822"	"48378822"	"subst"	"0"	"00577"	"PORCN_000062"	"g.48378822G>A"	""	"{PMID:Maas 2009:19586929}"	""	""	""	"Germline"	""	""	"0"	"X-inactivation 98/2"	""	"g.48520434G>A"	""	"pathogenic (dominant)"	""
"0000477779"	"21"	"99"	"X"	"48378822"	"48378822"	"subst"	"0"	"00577"	"PORCN_000062"	"g.48378822G>A"	""	"{PMID:Maas 2009:19586929}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48520434G>A"	""	"pathogenic (dominant)"	""
"0000477780"	"20"	"99"	"X"	"48378822"	"48378822"	"subst"	"0"	"00577"	"PORCN_000062"	"g.48378822G>A"	""	"{PMID:Maas 2009:19586929}"	""	""	"familial (suspected)"	"Germline"	""	""	"0"	""	""	"g.48520434G>A"	""	"pathogenic (dominant)"	""
"0000477781"	"0"	"99"	"X"	"48378831"	"48378831"	"dup"	"0"	"00577"	"PORCN_000063"	"g.48378831dup"	""	"{PMID:Maas 2009:19586929}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48520443dup"	""	"pathogenic (dominant)"	""
"0000477782"	"0"	"99"	"X"	"48361709"	"48370478"	"del"	"0"	"00577"	"PORCN_000064"	"g.48361709_48370478del"	""	"{PMID:Bornholdt 2009:19309688}"	""	"del ex1-4 hg1848246653_48255422del"	""	"Germline"	""	""	"0"	"X-inactivation 83/17"	""	"g.48503321_48512090del"	""	"pathogenic (dominant)"	""
"0000477783"	"0"	"99"	"X"	"48368172"	"48379202"	""	"0"	"00577"	"PORCN_000065"	"g.(?_48368172)_(48379202_?)del"	""	"{PMID:Bornholdt 2009:19309688}"	""	"del PORCN"	"microdeletion 1"	"Germline"	""	""	"0"	"X-inactivation 98/2"	""	""	""	"pathogenic (dominant)"	""
"0000477784"	"0"	"99"	"X"	"48368172"	"48379202"	""	"0"	"00577"	"PORCN_000065"	"g.(?_48368172)_(48379202_?)del"	""	"{PMID:Bornholdt 2009:19309688}"	""	"del PORCN"	"microdeletion 2"	"Germline"	""	""	"0"	"X-inactivation 100/0"	""	""	""	"pathogenic (dominant)"	""
"0000477785"	"0"	"99"	"X"	"48368172"	"48379202"	""	"0"	"00577"	"PORCN_000065"	"g.(?_48368172)_(48379202_?)del"	""	"{PMID:Bornholdt 2009:19309688}"	""	"del PORCN"	"microdeletion 3"	"Germline"	""	""	"0"	"X-inactivation 100/0"	""	""	""	"pathogenic (dominant)"	""
"0000477786"	"0"	"99"	"X"	"48306152"	"48443561"	"del"	"0"	"00577"	"PORCN_000068"	"g.48306152_48443561delinsCACGTGTGTTCTGGA"	""	"{PMID:Grzeschik 2007:17546031}, {PMID:Bornholdt 2009:19309688}"	""	"hg18 48191096_48328505delinsCACGTGTGTTCTGGA"	"137,411 bp deletion incl. SLC38A5, FTSJ1, PORCN,EBP and OATL1\r\nVariant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	"X-inactivation 95/5"	""	"g.48447780_48585173delinsCACGTGTGTTCTGGA"	""	"pathogenic (dominant)"	""
"0000477787"	"0"	"99"	"X"	"48036369"	"48401246"	"del"	"0"	"00577"	"PORCN_000069"	"g.48036369_48401246del"	""	"{PMID:Grzeschik 2007:17546031}, {PMID:Bornholdt 2009:19309688}"	""	"hg18 47921313_48286190del"	"364,864 bp deletion incl. SLC38A5, FTSJ1, PORCN, EBP\r\nVariant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	"X-inactivation 99/1"	""	"g.48176941_48542858del"	""	"pathogenic (dominant)"	""
"0000477788"	"0"	"99"	"X"	"48063411"	"48467943"	"del"	"0"	"00577"	"PORCN_000070"	"g.48063411_48467943del"	""	"{PMID:Grzeschik 2007:17546031}, {PMID:Bornholdt 2009:19309688}"	""	"hg18 47948355_48352887del"	"377,520 bp deletion PORCN\r\nVariant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	"X-inactivation 97/3"	""	"g.48203975_48609555del"	""	"pathogenic (dominant)"	""
"0000477789"	"0"	"99"	"X"	"48175056"	"48365056"	"del"	"0"	"00577"	"PORCN_000071"	"g.(?_48175056)_(48365056_?)del"	""	"{PMID:Wang 2007:17546030}"	""	"hg18 48060000_48250000del"	"~219 kb deletion incl. FTSJ1, SLC38A5, PORCN, EBP, OATL1, RBM3, WDR13"	"Germline"	""	""	"0"	"X-inactivation 100/0"	""	""	""	"pathogenic (dominant)"	""
"0000477790"	"0"	"99"	"X"	"48368172"	"48379202"	""	"0"	"00577"	"PORCN_000065"	"g.(?_48368172)_(48379202_?)del"	""	"{PMID:Wang 2007:17546030}"	""	"del PORCN"	"219 kb deletion"	"De novo"	""	""	"0"	"X-inactivation 100/0"	""	""	""	"pathogenic (dominant)"	""
"0000477791"	"0"	"99"	"X"	"48210000"	"48330000"	"del"	"0"	"00577"	"PORCN_000073"	"g.(48210000_48170000)_(48330000_48460000)del"	""	"{PMID:Froyen 2009:19863546}"	""	"del PORCN"	"150 kb del"	"De novo"	""	""	"0"	"X-inactivation non informative"	""	""	""	"pathogenic (dominant)"	""
"0000477792"	"0"	"99"	"X"	"48313056"	"48425056"	"del"	"0"	"00577"	"PORCN_000075"	"g.(?_48313056)_(48425056_?)del"	""	"{PMID:Houge, 2008:18478042}"	""	"hg18 48198000_48310000del"	"112 kb del PORCN"	"Germline"	""	""	"0"	"X-inactivation 100/0"	""	""	""	"pathogenic (dominant)"	""
"0000477793"	"0"	"99"	"X"	"48374276"	"48374276"	"subst"	"0"	"00577"	"PORCN_000076"	"g.48374276A>G"	""	"{PMID:Lombardi 2011:21472892}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48515888A>G"	""	"pathogenic (dominant)"	""
"0000477794"	"0"	"99"	"X"	"48372754"	"48372754"	"subst"	"0"	"00577"	"PORCN_000077"	"g.48372754G>C"	""	"{PMID:Lombardi 2011:21472892}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48514366G>C"	""	"pathogenic (dominant)"	""
"0000477795"	"0"	"99"	"X"	"48374455"	"48374455"	"subst"	"0"	"00577"	"PORCN_000049"	"g.48374455G>A"	""	"non published"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48516067G>A"	""	"pathogenic (dominant)"	""
"0000477796"	"20"	"77"	"X"	"48368172"	"48379202"	""	"0"	"00577"	"PORCN_000065"	"g.(?_48368172)_(48379202_?)del"	""	"{PMID:Lombardi 2011:21472892}"	""	"del PORCN +?"	"502 kb deletion"	"Germline"	""	""	"0"	"X-inactivation 99/1"	""	""	""	"likely pathogenic (dominant)"	""
"0000477797"	"0"	"97"	"X"	"48374331"	"48374331"	"subst"	"0"	"00577"	"PORCN_000079"	"g.48374331C>G"	""	"{PMID:Dias 2010:20704476}"	""	""	"mutation not detected in mother, father not available"	"Germline"	""	""	"0"	"X-inactivation 100/0"	""	"g.48515943C>G"	""	"pathogenic (dominant)"	""
"0000477798"	"0"	"97"	"X"	"48372953"	"48372953"	"del"	"0"	"00577"	"PORCN_000080"	"g.48372953del"	""	"{PMID:Vreeburg 2010:20626533}"	""	"886delC"	"postzygotic mosaicism, not detected in mother, detected in blood"	"Somatic"	""	""	"0"	""	""	"g.48514565del"	""	"pathogenic (dominant)"	""
"0000477799"	"0"	"97"	"X"	"48370323"	"48370323"	"subst"	"0"	"03285"	"PORCN_000081"	"g.48370323G>A"	""	"unpublished"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48511935G>A"	""	"pathogenic (dominant)"	""
"0000477800"	"0"	"99"	"X"	"48372635"	"48372635"	"subst"	"0"	"00577"	"PORCN_000026"	"g.48372635C>T"	""	"{PMID:Grzeschik 2007:17546031}"	""	""	"mosaic"	"Somatic"	""	""	"0"	""	""	"g.48514247C>T"	""	"pathogenic (dominant)"	""
"0000477801"	"0"	"99"	"X"	"48368316"	"48368316"	"subst"	"0"	"02310"	"PORCN_000082"	"g.48368316C>A"	""	"{PMID:Fernandes 2010:220854095}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48509928C>A"	""	"pathogenic (dominant)"	""
"0000477802"	"0"	"99"	"X"	"48368346"	"48368346"	"del"	"0"	"02310"	"PORCN_000083"	"g.48368346del"	""	"{PMID:Fernandes 2010:220854095}"	""	"136+2delT"	"splicing defect"	"Germline"	""	""	"0"	""	""	"g.48509958del"	""	"pathogenic (dominant)"	""
"0000477803"	"0"	"99"	"X"	"48369829"	"48369829"	"subst"	"0"	"00577"	"PORCN_000011"	"g.48369829C>T"	""	"{PMID:Fernandes 2010:220854095}"	""	""	"mosaic"	"Somatic"	""	""	"0"	""	""	"g.48511441C>T"	""	"pathogenic (dominant)"	""
"0000477804"	"0"	"99"	"X"	"48369724"	"48369724"	"subst"	"0"	"00577"	"PORCN_000007"	"g.48369724G>A"	""	"{PMID:Fernandes 2010:220854095}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48511336G>A"	""	"pathogenic (dominant)"	""
"0000477805"	"0"	"99"	"X"	"48369724"	"48369724"	"subst"	"0"	"00577"	"PORCN_000007"	"g.48369724G>A"	""	"{PMID:Fernandes 2010:20854095}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48511336G>A"	""	"pathogenic (dominant)"	""
"0000477806"	"0"	"99"	"X"	"48369724"	"48369724"	"subst"	"0"	"00577"	"PORCN_000007"	"g.48369724G>A"	""	"{PMID:Fernandes 2010:20854095}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48511336G>A"	""	"pathogenic (dominant)"	""
"0000477807"	"0"	"33"	"X"	"48372600"	"48372600"	"subst"	"0.00500314"	"00577"	"PORCN_000102"	"g.48372600C>T"	""	"{PMID:Fernandes 2010:20854095}"	""	""	"Predicted possible benign with in silico analysis"	"Germline"	""	""	"0"	""	""	"g.48514212C>T"	""	"likely benign"	""
"0000477808"	"0"	"99"	"X"	"48370310"	"48370310"	"subst"	"0"	"00577"	"PORCN_000084"	"g.48370310G>A"	""	"{PMID:Fernandes 2010:20854095}"	""	""	"mosaic"	"Somatic"	""	""	"0"	""	""	"g.48511922G>A"	""	"pathogenic (dominant)"	""
"0000477809"	"0"	"99"	"X"	"48370976"	"48370976"	"subst"	"0"	"00577"	"PORCN_000085"	"g.48370976G>C"	""	"{PMID:Fernandes 2010:20854095}"	""	""	"splicing defect"	"Germline"	""	""	"0"	""	""	"g.48512588G>C"	""	"pathogenic (dominant)"	""
"0000477810"	"0"	"99"	"X"	"48370987"	"48370987"	"subst"	"0"	"00577"	"PORCN_000086"	"g.48370987G>A"	""	"{PMID:Fernandes 2010:20854095}"	""	""	"truncation"	"Germline"	""	""	"0"	""	""	"g.48512599G>A"	""	"pathogenic (dominant)"	""
"0000477811"	"0"	"99"	"X"	"48371091"	"48371091"	"dup"	"0"	"02310"	"PORCN_000087"	"g.48371091dup"	""	"{PMID:Fernandes 2010:20854095}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48512703dup"	""	"pathogenic (dominant)"	""
"0000477812"	"0"	"33"	"X"	"48370253"	"48370253"	"del"	"0"	"02310"	"PORCN_000101"	"g.48370253del"	""	"{PMID:Fernandes 2010:20854095}"	""	"330-27delG"	"predicted to be benign with in silico analysis"	"Germline"	""	""	"0"	""	""	"g.48511865del"	""	"likely benign"	""
"0000477813"	"0"	"99"	"X"	"48373014"	"48373014"	"subst"	"0"	"02310"	"PORCN_000088"	"g.48373014G>A"	""	"{PMID:Fernandes 2010:20854095}"	""	""	"splicing defect"	"Germline"	""	""	"0"	""	""	"g.48514626G>A"	""	"pathogenic (dominant)"	""
"0000477814"	"0"	"99"	"X"	"48374179"	"48374179"	"subst"	"0"	"02310"	"PORCN_000089"	"g.48374179C>T"	""	"{PMID:Fernandes 2010:20854095}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.48515791C>T"	""	"pathogenic (dominant)"	""
"0000477815"	"0"	"99"	"X"	"48374330"	"48374330"	"dup"	"0"	"00577"	"PORCN_000090"	"g.48374330dup"	""	"{PMID:Fernandes 2010:20854095}"	""	""	"truncation"	"Germline"	""	""	"0"	""	""	"g.48515942dup"	""	"pathogenic (dominant)"	""
"0000477816"	"0"	"99"	"X"	"48374455"	"48374455"	"subst"	"0"	"00577"	"PORCN_000049"	"g.48374455G>A"	""	"{PMID:Fernandes et. 2010:20854095}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48516067G>A"	""	"pathogenic (dominant)"	""
"0000477817"	"0"	"99"	"X"	"48374455"	"48374455"	"subst"	"0"	"00577"	"PORCN_000049"	"g.48374455G>A"	""	"{PMID:Fernandes etal. 2010:20854095}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48516067G>A"	""	"pathogenic (dominant)"	""
"0000477818"	"0"	"99"	"X"	"48374455"	"48374455"	"subst"	"0"	"00577"	"PORCN_000049"	"g.48374455G>A"	""	"{PMID:Fernandes etal. 2010:20854095}"	""	""	"postzygotic mosaic"	"Somatic"	""	""	"0"	"X-inactivation non informative"	""	"g.48516067G>A"	""	"pathogenic (dominant)"	""
"0000477819"	"0"	"99"	"X"	"48374455"	"48374455"	"subst"	"0"	"00577"	"PORCN_000049"	"g.48374455G>A"	""	"{PMID:Fernandes etal. 2010:20854095}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48516067G>A"	""	"pathogenic (dominant)"	""
"0000477820"	"0"	"99"	"X"	"48375583"	"48375583"	"subst"	"0"	"00577"	"PORCN_000055"	"g.48375583C>T"	""	"{PMID:Fernandes etal. 2010:20854095}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48517195C>T"	""	"pathogenic (dominant)"	""
"0000477821"	"0"	"99"	"X"	"48378766"	"48378776"	"del"	"0"	"00577"	"PORCN_000091"	"g.48378766_48378776del"	""	"{PMID:Fernandes 2010:20854095}"	""	""	"truncation"	"Germline"	""	""	"0"	""	""	"g.48520378_48520388del"	""	"pathogenic (dominant)"	""
"0000477822"	"0"	"99"	"X"	"48378795"	"48378795"	"subst"	"0"	"00577"	"PORCN_000060"	"g.48378795G>A"	""	"{PMID:Fernandes 2010:20854095}"	""	""	"truncation"	"De novo"	""	""	"0"	""	""	"g.48520407G>A"	""	"pathogenic (dominant)"	""
"0000477823"	"0"	"99"	"X"	"48378797"	"48378797"	"subst"	"0"	"00577"	"PORCN_000092"	"g.48378797C>G"	""	"{PMID:Fernandes 2010:20854095}"	""	""	"truncation"	"Germline"	""	""	"0"	""	""	"g.48520409C>G"	""	"pathogenic (dominant)"	""
"0000477824"	"0"	"99"	"X"	"48378809"	"48378809"	"subst"	"0"	"00577"	"PORCN_000061"	"g.48378809G>A"	""	"{PMID:Fernandes 2010:20854095}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48520421G>A"	""	"pathogenic (dominant)"	""
"0000477825"	"0"	"33"	"X"	"48370269"	"48370269"	"subst"	"0"	"00577"	"PORCN_000100"	"g.48370269T>A"	""	"{PMID:Fernandes 2010:20854095}"	""	""	"possible begnin"	"Germline"	""	""	"0"	""	""	"g.48511881T>A"	""	"likely benign"	""
"0000477826"	"0"	"99"	"X"	"48378839"	"48378839"	"subst"	"0"	"00577"	"PORCN_000093"	"g.48378839G>A"	""	"{PMID:Fernandes 2010:20854095}"	""	""	"truncation"	"Germline"	""	""	"0"	""	""	"g.48520451G>A"	""	"pathogenic (dominant)"	""
"0000477827"	"0"	"77"	"X"	"48370699"	"48370699"	"subst"	"0"	"00577"	"PORCN_000015"	"g.48370699T>A"	""	"{PMID:Fernandes 2010:20854095}"	""	""	"Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000477828"	"0"	"77"	"X"	"48370899"	"48370899"	"subst"	"0"	"02310"	"PORCN_000094"	"g.48370899A>G"	""	"{PMID:Fernandes 2010:20854095}"	""	""	"splicing defect"	"Germline"	""	""	"0"	""	""	"g.48512511A>G"	""	"likely pathogenic (dominant)"	""
"0000477829"	"0"	"77"	"X"	"48374294"	"48374294"	"subst"	"0"	"00577"	"PORCN_000095"	"g.48374294T>C"	""	"{PMID:Fernandes 2010:20854095}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48515906T>C"	""	"likely pathogenic (dominant)"	""
"0000477830"	"0"	"77"	"X"	"48374467"	"48374467"	"subst"	"0"	"00577"	"PORCN_000096"	"g.48374467C>T"	""	"{PMID:Fernandes 2010:20854095}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48516079C>T"	""	"likely pathogenic (dominant)"	""
"0000477831"	"0"	"99"	"X"	"48372915"	"48372921"	"dup"	"0"	"02310"	"PORCN_000097"	"g.48372915_48372921dup"	""	"{PMID:Maalouf 2012:22250236}"	""	"854_855insACCTGAC"	"frameshift/truncation"	"Germline"	""	""	"0"	"X-inactivation random in blood and unaffected skin, skewed in affected skin"	""	"g.48514527_48514533dup"	""	"pathogenic (dominant)"	""
"0000477832"	"0"	"99"	"X"	"48368345"	"48368345"	"subst"	"0"	"02310"	"PORCN_000098"	"g.48368345G>A"	""	"{PMID:Kapoor 2012:21732017}"	""	"IVS2+1G>A"	"splicing defect"	"Germline"	""	""	"0"	""	""	"g.48509957G>A"	""	"pathogenic (dominant)"	""
"0000477833"	"0"	"99"	"X"	"48368337"	"48368337"	"subst"	"0"	"02310"	"PORCN_000099"	"g.48368337G>A"	""	"{PMID:Yoshihashi 2010:21133992}"	""	"truncation, detected in blood"	"de novo, somatic mosaicism"	"Somatic"	""	""	"0"	""	""	"g.48509949G>A"	""	"pathogenic (dominant)"	""
"0000477834"	"0"	"33"	"X"	"48375713"	"48375713"	"subst"	"0.0134835"	"00577"	"PORCN_000103"	"g.48375713C>A"	""	"{PMID:Fernandes 2010:20854095}"	""	""	"predicted possible benign with in silico analysis and identified in unaffected father"	"Germline"	""	"rs113706971"	"0"	""	""	"g.48517325C>A"	""	"likely benign"	""
"0000477835"	"0"	"99"	"X"	"48378768"	"48378768"	"subst"	"0"	"00577"	"PORCN_000058"	"g.48378768C>A"	""	"unpublished"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48520380C>A"	""	"pathogenic (dominant)"	""
"0000477836"	"0"	"99"	"X"	"48378768"	"48378768"	"subst"	"0"	"00577"	"PORCN_000058"	"g.48378768C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.48520380C>A"	""	"pathogenic (dominant)"	""
"0000477837"	"0"	"99"	"X"	"48374277"	"48374277"	"subst"	"0"	"03283"	"PORCN_000104"	"g.48374277G>A"	""	"unpublished"	""	""	"splicing defect"	"Germline"	""	""	"0"	""	""	"g.48515889G>A"	""	"pathogenic (dominant)"	""
"0000477838"	"0"	"77"	"X"	"48369680"	"48369680"	"subst"	"0"	"03283"	"PORCN_000105"	"g.48369680A>G"	""	"unpublished"	""	""	"splicing defect predicted with in silico analysis"	"Germline"	""	""	"0"	""	""	"g.48511292A>G"	""	"likely pathogenic (dominant)"	""
"0000477839"	"0"	"99"	"X"	"48370998"	"48370998"	"del"	"0"	"02310"	"PORCN_000022"	"g.48370998del"	""	"unpublished"	""	"576delG"	""	"Germline"	""	""	"0"	""	""	"g.48512610del"	""	"pathogenic (dominant)"	""
"0000477840"	"0"	"77"	"X"	"48371005"	"48371022"	"del"	"0"	"02310"	"PORCN_000106"	"g.48371005_48371022del"	""	"unpublished"	""	""	"de novo, in patient"	"De novo"	""	""	"0"	""	""	"g.48512617_48512634del"	""	"likely pathogenic (dominant)"	""
"0000477841"	"0"	"99"	"X"	"48369724"	"48369724"	"subst"	"0"	"02310"	"PORCN_000007"	"g.48369724G>A"	""	"unpublished"	""	""	"de novo, in patient"	"De novo"	""	""	"0"	""	""	"g.48511336G>A"	""	"pathogenic (dominant)"	""
"0000477842"	"0"	"77"	"X"	"48372695"	"48372695"	"subst"	"0"	"02310"	"PORCN_000107"	"g.48372695G>A"	""	"unpublished"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48514307G>A"	""	"likely pathogenic (dominant)"	""
"0000477843"	"0"	"11"	"X"	"48372544"	"48372544"	"subst"	"1.12211E-5"	"02310"	"PORCN_000109"	"g.48372544C>T"	""	"unpublished"	""	""	"possible splicing defect predicted with in silico analysis, inherited from mildly affected mother AMC_22"	"Germline"	""	""	"0"	"X-inactivation 65/35"	""	"g.48514156C>T"	""	"benign"	""
"0000477844"	"21"	"77"	"X"	"48373005"	"48373005"	"subst"	"0"	"02310"	"PORCN_000108"	"g.48373005T>G"	""	"{PMID:Contreras-Capetillo et al., 2013:24357603}"	""	""	"inherited from mildly affected mother AMC_22"	"Germline"	""	""	"0"	"X-inactivation 65/35"	""	"g.48514617T>G"	""	"likely pathogenic (dominant)"	""
"0000477845"	"0"	"11"	"X"	"48372544"	"48372544"	"subst"	"1.12211E-5"	"02310"	"PORCN_000109"	"g.48372544C>T"	""	"unpublished"	""	""	"possible splicing defect predicted with in silico analysis"	"Germline"	""	""	"0"	"X-inactivation 50/50"	""	"g.48514156C>T"	""	"benign"	""
"0000477846"	"0"	"77"	"X"	"48373005"	"48373005"	"subst"	"0"	"02310"	"PORCN_000108"	"g.48373005T>G"	""	"{PMID:Contreras-Capetillo et al.,2013:240357603}"	""	""	"mother of AMC_21"	"Germline"	""	""	"0"	"X-inactivation 50/50"	""	"g.48514617T>G"	""	"likely pathogenic (dominant)"	""
"0000477847"	"0"	"99"	"X"	"48374301"	"48374308"	"dup"	"0"	"00577"	"PORCN_000110"	"g.48374301_48374308dup"	""	"unpublished"	""	""	"frameshift/truncation, detected in blood"	"Germline"	""	""	"0"	""	""	"g.48515913_48515920dup"	""	"pathogenic (dominant)"	""
"0000477848"	"0"	"99"	"X"	"48369724"	"48369724"	"subst"	"0"	"00577"	"PORCN_000007"	"g.48369724G>A"	""	"unpublished"	""	""	"detected in blood"	"Germline"	""	""	"0"	""	""	"g.48511336G>A"	""	"pathogenic (dominant)"	""
"0000477849"	"0"	"99"	"X"	"48374170"	"48374170"	"subst"	"0"	"00577"	"PORCN_000111"	"g.48374170G>C"	""	"unpublished"	""	""	""	"De novo"	""	""	"0"	""	""	"g.48515782G>C"	""	"pathogenic (dominant)"	""
"0000477850"	"0"	"99"	"X"	"48372755"	"48372755"	"subst"	"0"	"00577"	"PORCN_000112"	"g.48372755T>G"	""	"unpublished"	""	""	"splicing defect"	"Germline"	""	""	"0"	""	""	"g.48514367T>G"	""	"pathogenic (dominant)"	""
"0000477851"	"0"	"99"	"X"	"48372693"	"48372693"	"subst"	"0"	"00577"	"PORCN_000113"	"g.48372693C>A"	""	"unpublished"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48514305C>A"	""	"pathogenic (dominant)"	""
"0000477852"	"0"	"99"	"X"	"48375576"	"48375589"	"del"	"0"	"00577"	"PORCN_000114"	"g.48375576_48375589del"	""	"{PMID:Asano 2012:22735390}"	""	"1179_1193del"	""	"Germline"	""	""	"0"	""	""	"g.48517188_48517201del"	""	"pathogenic (dominant)"	""
"0000477853"	"0"	"99"	"X"	"48368172"	"48387104"	"del"	"0"	"00577"	"PORCN_000115"	"g.(?_48368172)_(48387104_?)del"	""	"{PMID:Patrizi 2012:22414489}"	""	"deletion PORCN and EBP +?"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000477854"	"0"	"15"	"X"	"48372920"	"48372922"	"del"	"0"	"03284"	"PORCN_000116"	"g.48372920_48372922del"	""	"{PMID:Peters et al., 2014:24387693}"	""	"853_855delACG"	"de novo, somatic mosaicism"	"Somatic"	""	""	"0"	""	""	"g.48514532_48514534del"	""	"benign"	""
"0000477855"	"0"	"77"	"X"	"48375647"	"48375647"	"subst"	"0"	"00577"	"PORCN_000117"	"g.48375647T>C"	""	"{PMID:Garavelli et al., 2013:23696273}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.48517259T>C"	""	"likely pathogenic (dominant)"	""
"0000477856"	"0"	"77"	"X"	"48370842"	"48370842"	"subst"	"0"	"00577"	"PORCN_000019"	"g.48370842G>A"	""	"not published"	""	""	"postzygotic mosaic"	"Somatic"	""	""	"0"	""	""	"g.48512454G>A"	""	"likely pathogenic (dominant)"	""
"0000477857"	"0"	"77"	"X"	"48369814"	"48369814"	"subst"	"0"	"00577"	"PORCN_000010"	"g.48369814C>T"	""	"not published"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48511426C>T"	""	"likely pathogenic (dominant)"	""
"0000477858"	"0"	"77"	"X"	"48368337"	"48368337"	"subst"	"0"	"00577"	"PORCN_000099"	"g.48368337G>A"	""	"{PMID:Nakanishi 2013:23399492}"	""	""	"truncation, detected in blood"	"Germline"	""	""	"0"	""	""	"g.48509949G>A"	""	"likely pathogenic (dominant)"	""
"0000477859"	"0"	"99"	"X"	"48370727"	"48370727"	"del"	"0"	"00577"	"PORCN_000118"	"g.48370727del"	""	"{PMID:Nakanishi 2013:23399492}"	""	""	"mRNA analysis shows a 13bp insertion created by an alternative splicing site"	"Germline"	""	""	"0"	"X-inactivation slightly skewed pattern in lesional skin"	""	"g.48512339del"	""	"pathogenic (dominant)"	""
"0000477860"	"0"	"99"	"X"	"48367100"	"48372899"	"del"	"0"	"00577"	"PORCN_000119"	"g.(?_48367100)_(48372899_?)del"	""	"{PMID:Sellars 2013:23943565}"	""	"del ex1-8"	"mosaic"	"Somatic"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000477861"	"0"	"99"	"X"	"48367100"	"48372899"	"del"	"0"	"00577"	"PORCN_000119"	"g.(?_48367100)_(48372899_?)del"	""	"{PMID:Sellars 2013:23943565}"	""	"del ex1-8"	"fetus of case 1, prenatal diagnosis by ultrasound analysis and array CGH,"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000477862"	"0"	"99"	"X"	"48374454"	"48374454"	"subst"	"0"	"00577"	"PORCN_000140"	"g.48374454C>T"	""	"{PMID:Alkindi et al. 2013:23131169}"	""	""	"de novo, in patient"	"De novo"	""	""	"0"	""	""	"g.48516066C>T"	""	"pathogenic (dominant)"	""
"0000480143"	"0"	"77"	"X"	"48372731"	"48372731"	"subst"	"0"	"00577"	"PORCN_000138"	"g.48372731G>T"	""	""	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.48514343G>T"	""	"pathogenic"	""
"0000480160"	"0"	"99"	"X"	"48368172"	"48379202"	"del"	"0"	"00577"	"PORCN_000065"	"g.(?_48368172)_(48379202_?)del"	"9/157 patients"	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000480465"	"0"	"99"	"X"	"48369719"	"48369724"	"del"	"0"	"00577"	"PORCN_000139"	"g.48369719_48369724delinsACT"	""	"{PMID:Severino-Freire 2017:28293688}"	""	""	"mosaic in buccal swab DNA, variant not detected in DNA extracted from blood"	"Somatic"	""	""	"0"	""	""	"g.48511331_48511336delinsACT"	""	"pathogenic"	""
"0000484083"	"0"	"99"	"X"	"48374114"	"48374114"	"dup"	"0"	"00577"	"PORCN_000142"	"g.48374114dup"	""	"{PMID:Young et al, 2014:24698628}"	""	""	"mosaic"	"Somatic"	""	""	"0"	""	""	"g.48515726dup"	""	"pathogenic"	""
"0000484084"	"0"	"99"	"X"	"48374315"	"48374315"	"subst"	"0"	"00577"	"PORCN_000141"	"g.48374315T>C"	""	"{PMID:Arias-Llorente et al., 2015:26470739}"	""	""	"de novo"	"De novo"	""	""	"0"	""	""	"g.48515927T>C"	""	"pathogenic"	""
"0000484085"	"0"	"99"	"X"	"48368275"	"48368275"	"subst"	"0"	"00577"	"PORCN_000143"	"g.48368275C>T"	""	"{PMID:Ramirez-Botero et al., 2016:26603014}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48509887C>T"	""	"pathogenic"	""
"0000484239"	"0"	"99"	"X"	"48378795"	"48378795"	"subst"	"0"	"00577"	"PORCN_000060"	"g.48378795G>A"	""	"{PMID:Bostwick et a.l, 2016 :26853229}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48520407G>A"	""	"pathogenic"	""
"0000484240"	"0"	"99"	"X"	"48372755"	"48372755"	"subst"	"0"	"00577"	"PORCN_000112"	"g.48372755T>G"	""	"{PMID:Bostwick 2016 :26853229}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48514367T>G"	""	"pathogenic"	""
"0000484296"	"0"	"99"	"X"	"48368346"	"48368346"	"del"	"0"	"00577"	"PORCN_000083"	"g.48368346del"	""	"{PMID:Bostwick et al, 2016 :26853229}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48509958del"	""	"pathogenic"	""
"0000484299"	"0"	"99"	"X"	"48370881"	"48370881"	"subst"	"0"	"00577"	"PORCN_000144"	"g.48370881C>T"	""	"{PMID:Bostwick et al, 2016 :26853229}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48512493C>T"	""	"pathogenic"	""
"0000484312"	"0"	"99"	"X"	"48374313"	"48374325"	"dup"	"0"	"00577"	"PORCN_000044"	"g.48374313_48374325dup"	""	"{PMID:Bostwick et al, 2016 :26853229}"	""	""	""	"Somatic"	""	""	"0"	""	""	"g.48515925_48515937dup"	"{CV:000031678}"	"pathogenic"	""
"0000484313"	"0"	"99"	"X"	"48374313"	"48374325"	"dup"	"0"	"00577"	"PORCN_000044"	"g.48374313_48374325dup"	""	"{PMID:Bostwick et al, 2016 : 26853229}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48515925_48515937dup"	"{CV-RCV:000011446.8}"	"pathogenic"	""
"0000484314"	"0"	"99"	"X"	"48374455"	"48374455"	"subst"	"0"	"00577"	"PORCN_000049"	"g.48374455G>A"	""	"{PMID:Bostwick et al, 2016 : 26853229}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48516067G>A"	""	"pathogenic"	""
"0000484315"	"0"	"99"	"X"	"48368315"	"48368315"	"subst"	"0"	"00577"	"PORCN_000145"	"g.48368315G>A"	""	"{PMID:Bostwick et al, 2016 : 26853229}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48509927G>A"	""	"pathogenic"	""
"0000484316"	"0"	"99"	"X"	"48374330"	"48374330"	"dup"	"0"	"00577"	"PORCN_000090"	"g.48374330dup"	""	"{PMID:Bostwick et al, 2016:26853229}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48515942dup"	""	"pathogenic"	""
"0000484317"	"0"	"99"	"X"	"48369724"	"48369724"	"subst"	"0"	"00577"	"PORCN_000007"	"g.48369724G>A"	""	"{PMID:Bostwick et al, 2016 :26853229}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48511336G>A"	"{CV-RCV:000011447.6}"	"pathogenic"	""
"0000484318"	"0"	"99"	"X"	"48371028"	"48371028"	"subst"	"0"	"00577"	"PORCN_000146"	"g.48371028T>C"	""	"{PMID:Bostwick et al, 2016 :26853229}"	""	"c.607C>T"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48512640T>C"	""	"pathogenic"	""
"0000484319"	"0"	"99"	"X"	"48378797"	"48378797"	"subst"	"0"	"00577"	"PORCN_000092"	"g.48378797C>G"	""	"{PMID:Bostwick et al, 2016 :26853229}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48520409C>G"	""	"pathogenic"	""
"0000484320"	"0"	"99"	"X"	"48374114"	"48374114"	"dup"	"0"	"00577"	"PORCN_000142"	"g.48374114dup"	""	"{PMID:Bostwick et al, 2016 :26853229}"	""	""	"mosaic"	"Somatic"	""	""	"0"	""	""	"g.48515726dup"	""	"pathogenic"	""
"0000484321"	"0"	"99"	"X"	"48368172"	"48379202"	"del"	"0"	"00577"	"PORCN_000065"	"g.(?_48368172)_(48379202_?)del"	""	"{PMID:Bostwick et al, 2016 :26853229}"	""	"~0.459 Mb del in Xp11.23 including PORCN"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000484322"	"0"	"99"	"X"	"48372965"	"48372965"	"subst"	"0"	"00577"	"PORCN_000035"	"g.48372965G>T"	""	"{PMID:Rao SS. et al., 2016:27904205}"	""	""	"mosaic"	"Somatic"	""	""	"0"	""	""	"g.48514577G>T"	""	"pathogenic"	""
"0000484771"	"21"	"99"	"X"	"48372657"	"48372657"	"subst"	"0"	"00577"	"PORCN_000147"	"g.48372657C>T"	""	"{PMID: Madan et al., 2017:28626639}"	""	""	"inherited from uneffected mother"	"Germline"	""	""	"0"	""	""	"g.48514269C>T"	""	"pathogenic"	""
"0000487199"	"0"	"99"	"X"	"48374114"	"48374114"	"dup"	"0"	"00577"	"PORCN_000142"	"g.48374114dup"	""	"{PMID:Stevenson et al., 2014:25040319}"	""	""	"mosaic"	"Somatic"	""	""	"0"	""	""	"g.48515726dup"	""	"pathogenic"	""
"0000487200"	"0"	"99"	"X"	"48370828"	"48370828"	"del"	"0"	"00577"	"PORCN_000148"	"g.48370828del"	""	"{PMID:Durmaz et al., 2018:29525789}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48512440del"	""	"pathogenic"	""
"0000487201"	"0"	"99"	"X"	"48375671"	"48375672"	"del"	"0"	"00577"	"PORCN_000149"	"g.48375671_48375672del"	""	"{PMID:Frisk et al., 2018:30455901}"	""	""	"mosaic levels tissues: (digital PCR) 72% of the cells in affected skin, 49% in normal skin, and 47% in blood."	"Somatic"	""	""	"0"	""	""	"g.48517283_48517284del"	""	"pathogenic"	""
"0000487379"	"0"	"77"	"X"	"48371032"	"48371032"	"subst"	"0"	"00577"	"PORCN_000150"	"g.48371032T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.48512644T>C"	""	"likely pathogenic"	""
"0000487390"	"0"	"99"	"X"	"48374454"	"48374454"	"subst"	"0"	"00577"	"PORCN_000140"	"g.48374454C>T"	""	""	""	""	"mosaic in blood"	"Somatic"	""	""	"0"	""	""	"g.48516066C>T"	""	"pathogenic"	""
"0000487391"	"0"	"99"	"X"	"48370992"	"48370992"	"subst"	"0"	"00577"	"PORCN_000021"	"g.48370992C>T"	""	""	""	""	"mosaic in fibroblasts, not detected in blood"	"Somatic"	""	""	"0"	""	""	"g.48512604C>T"	""	"pathogenic"	""
"0000487400"	"3"	"11"	"X"	"48369679"	"48369679"	"subst"	"5.60893E-6"	"00577"	"PORCN_000151"	"g.48369679A>T"	"0.000009798 in gnomAD (2x hemizygotes)"	""	""	""	"variant found in unaffected father (hemizygote) and mother"	"Germline"	"no"	""	"0"	""	""	"g.48511291A>T"	""	"likely benign"	""
"0000487536"	"0"	"77"	"X"	"48374502"	"48374502"	"subst"	"0"	"00577"	"PORCN_000152"	"g.48374502T>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48516114T>C"	""	"likely pathogenic"	""
"0000576213"	"0"	"30"	"X"	"48369755"	"48369755"	"subst"	"3.35589E-5"	"01943"	"PORCN_000154"	"g.48369755T>G"	""	""	""	"PORCN(NM_203475.2):c.209T>G (p.L70R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.48511367T>G"	""	"likely benign"	""
"0000576214"	"0"	"30"	"X"	"48369835"	"48369835"	"subst"	"2.79634E-5"	"02325"	"PORCN_000155"	"g.48369835G>A"	""	""	""	"PORCN(NM_001282167.2):c.76G>A (p.V26I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.48511447G>A"	""	"likely benign"	""
"0000576215"	"0"	"30"	"X"	"48370783"	"48370783"	"subst"	"5.64283E-6"	"01804"	"PORCN_000156"	"g.48370783C>T"	""	""	""	"PORCN(NM_022825.2):c.443C>T (p.(Thr148Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.48512395C>T"	""	"likely benign"	""
"0000576216"	"0"	"50"	"X"	"48370786"	"48370786"	"subst"	"0"	"01943"	"PORCN_000157"	"g.48370786T>A"	""	""	""	"PORCN(NM_001282167.1):c.233T>A (p.V78E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.48512398T>A"	""	"VUS"	""
"0000576217"	"0"	"50"	"X"	"48375668"	"48375668"	"subst"	"1.79859E-5"	"01943"	"EBP_000040"	"g.48375668C>A"	""	""	""	"PORCN(NM_001282167.1):c.1025C>A (p.T342N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.48517280C>A"	""	"VUS"	""
"0000576218"	"0"	"30"	"X"	"48378772"	"48378772"	"subst"	"7.29321E-5"	"01804"	"EBP_000041"	"g.48378772A>C"	""	""	""	"PORCN(NM_022825.2):c.1261A>C (p.(Met421Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.48520384A>C"	""	"likely benign"	""
"0000576219"	"0"	"30"	"X"	"48378851"	"48378851"	"subst"	"8.40459E-5"	"01804"	"EBP_000042"	"g.48378851G>A"	""	""	""	"PORCN(NM_022825.2):c.1340G>A (p.(Arg447His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.48520463G>A"	""	"likely benign"	""
"0000576220"	"0"	"30"	"X"	"48380298"	"48380298"	"subst"	"0"	"01804"	"EBP_000043"	"g.48380298G>C"	""	""	""	"EBP(NM_006579.2):c.-74+3G>C (p.(=)), EBP(NM_006579.3):c.-74+3G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.48521910G>C"	""	"likely benign"	""
"0000576221"	"0"	"30"	"X"	"48382172"	"48382172"	"subst"	"0.000265622"	"01943"	"EBP_000044"	"g.48382172G>A"	""	""	""	"EBP(NM_006579.2):c.13G>A (p.A5T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.48523784G>A"	""	"likely benign"	""
"0000578278"	"21"	"99"	"X"	"48370896"	"48370896"	"subst"	"0"	"00577"	"PORCN_000158"	"g.48370896G>C"	""	"{PMID:Aarabi 2018:29392406}"	""	""	"WES analysis of maternal DNA detected the same PORCN variant in approximately 2% of the reads, suggesting a possibility of germline mosaicism"	"Germline"	""	""	"0"	""	""	"g.48512508G>C"	""	"pathogenic"	""
"0000578282"	"20"	"99"	"X"	"48372626"	"48372626"	"subst"	"0"	"00577"	"PORCN_000159"	"g.48372626A>G"	""	"{PMID:Mary 2016:27623003}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.48514238A>G"	""	"pathogenic"	""
"0000578283"	"0"	"99"	"X"	"48369680"	"48369680"	"subst"	"0"	"00577"	"PORCN_000105"	"g.48369680A>G"	""	"{PMID:Mary 2016:27623003}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48511292A>G"	""	"pathogenic"	""
"0000578284"	"0"	"99"	"X"	"48371042"	"48371042"	"del"	"0"	"00577"	"PORCN_000160"	"g.48371042del"	""	"{PMID:Mary 2016:27623003}"	""	"p.S207fs*239"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48512654del"	""	"pathogenic"	""
"0000578373"	"0"	"99"	"X"	"48378791"	"48378791"	"dup"	"0"	"00577"	"PORCN_000161"	"g.48378791dup"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48520403dup"	""	"pathogenic"	""
"0000578374"	"0"	"99"	"X"	"48373003"	"48373003"	"subst"	"0"	"00577"	"PORCN_000162"	"g.48373003G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48514615G>A"	""	"pathogenic"	""
"0000578398"	"0"	"99"	"X"	"48378840"	"48378840"	"subst"	"0"	"00577"	"PORCN_000163"	"g.48378840G>A"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.48520452G>A"	""	"pathogenic"	""
"0000578421"	"0"	"99"	"X"	"48372925"	"48372926"	"del"	"0"	"00577"	"PORCN_000164"	"g.48372925_48372926del"	""	""	""	""	"low mosaicism in patient, variant not detectable in blood DNA"	"Somatic"	""	""	"0"	""	""	"g.48514537_48514538del"	""	"pathogenic"	""
"0000578450"	"0"	"99"	"X"	"48372701"	"48372701"	"del"	"0"	"00577"	"PORCN_000165"	"g.48372701del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48514313del"	""	"pathogenic"	""
"0000578456"	"0"	"99"	"X"	"48368346"	"48368346"	"subst"	"0"	"00577"	"PORCN_000166"	"g.48368346T>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48509958T>C"	""	"pathogenic"	""
"0000578459"	"0"	"99"	"X"	"48372647"	"48372648"	"del"	"0"	"00577"	"PORCN_000167"	"g.48372647_48372648del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48514259_48514260del"	""	"pathogenic"	""
"0000578460"	"0"	"99"	"X"	"48374335"	"48374335"	"subst"	"0"	"00577"	"PORCN_000168"	"g.48374335G>T"	""	""	""	""	"mosaic variant detected in fibroblasts, not detected in blood"	"Somatic"	""	""	"0"	""	""	"g.48515947G>T"	""	"pathogenic"	""
"0000578511"	"0"	"99"	"X"	"48375596"	"48375596"	"del"	"0"	"00577"	"PORCN_000169"	"g.48375596del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48517208del"	""	"pathogenic"	""
"0000578512"	"0"	"99"	"X"	"48374169"	"48374169"	"subst"	"0"	"00577"	"PORCN_000170"	"g.48374169C>G"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48515781C>G"	""	"pathogenic"	""
"0000578525"	"0"	"99"	"X"	"48374454"	"48374454"	"subst"	"0"	"00577"	"PORCN_000140"	"g.48374454C>T"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.48516066C>T"	""	"pathogenic"	""
"0000579032"	"0"	"99"	"X"	"48374331"	"48374331"	"subst"	"0"	"00577"	"PORCN_000046"	"g.48374331C>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48515943C>A"	""	"pathogenic"	""
"0000579033"	"0"	"99"	"X"	"48374454"	"48374454"	"subst"	"0"	"00577"	"PORCN_000140"	"g.48374454C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48516066C>T"	""	"pathogenic"	""
"0000619618"	"0"	"70"	"X"	"48368323"	"48368323"	"subst"	"0"	"02327"	"PORCN_000171"	"g.48368323T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.48509935T>C"	""	"likely pathogenic"	""
"0000619619"	"0"	"30"	"X"	"48380298"	"48380298"	"subst"	"0"	"01943"	"EBP_000043"	"g.48380298G>C"	""	""	""	"EBP(NM_006579.2):c.-74+3G>C (p.(=)), EBP(NM_006579.3):c.-74+3G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.48521910G>C"	""	"likely benign"	""
"0000624633"	"0"	"30"	"X"	"48374274"	"48374274"	"subst"	"5.60353E-6"	"02325"	"PORCN_000172"	"g.48374274C>G"	""	""	""	"PORCN(NM_001282167.2):c.778-4C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.48515886C>G"	""	"likely benign"	""
"0000682470"	"0"	"30"	"X"	"48378780"	"48378780"	"subst"	"0"	"01943"	"EBP_000050"	"g.48378780C>T"	""	""	""	"PORCN(NM_001282167.1):c.1056C>T (p.Y352=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000693616"	"0"	"30"	"X"	"48372676"	"48372676"	"subst"	"0"	"01943"	"PORCN_000173"	"g.48372676T>C"	""	""	""	"PORCN(NM_001282167.1):c.522T>C (p.Y174=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000693617"	"0"	"50"	"X"	"48374168"	"48374168"	"subst"	"0"	"02327"	"PORCN_000174"	"g.48374168G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000728956"	"0"	"30"	"X"	"48369679"	"48369679"	"subst"	"5.60893E-6"	"02325"	"PORCN_000151"	"g.48369679A>T"	""	""	""	"PORCN(NM_203475.3):c.137-4A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000728957"	"0"	"70"	"X"	"48374174"	"48374174"	"subst"	"0"	"01943"	"PORCN_000175"	"g.48374174T>C"	""	""	""	"PORCN(NM_001282167.1):c.770T>C (p.L257P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000728958"	"0"	"50"	"X"	"48374469"	"48374469"	"subst"	"5.59989E-6"	"01943"	"EBP_000052"	"g.48374469C>T"	""	""	""	"PORCN(NM_001282167.1):c.862C>T (p.R288W), PORCN(NM_203475.1):c.1108C>T (p.(Arg370Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000728959"	"0"	"30"	"X"	"48382181"	"48382181"	"subst"	"0"	"01943"	"EBP_000053"	"g.48382181T>C"	""	""	""	"EBP(NM_006579.2):c.22T>C (p.L8=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000728960"	"0"	"50"	"X"	"48382197"	"48382197"	"subst"	"0.000108592"	"01943"	"EBP_000054"	"g.48382197C>G"	""	""	""	"EBP(NM_006579.2):c.38C>G (p.P13R), EBP(NM_006579.3):c.38C>G (p.P13R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000728961"	"0"	"50"	"X"	"48382396"	"48382396"	"subst"	"0"	"01943"	"EBP_000055"	"g.48382396C>G"	""	""	""	"EBP(NM_006579.2):c.237C>G (p.I79M), EBP(NM_006579.3):c.237C>G (p.(Ile79Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000786653"	"0"	"90"	"X"	"48374455"	"48374455"	"subst"	"0"	"00006"	"PORCN_000049"	"g.48374455G>A"	""	"{PMID:Lefebvre 2021:32732226}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48516067G>A"	""	"pathogenic"	""
"0000797370"	"0"	"70"	"X"	"48369724"	"48369724"	"subst"	"0"	"00000"	"PORCN_000007"	"g.48369724G>A"	""	"{PMID:Patel 2019:30653986}"	""	"c.178G-->A; p.Gly60Arg"	"confirmed with Sanger sequencing; heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.48511336G>A"	""	"likely pathogenic"	""
"0000817698"	"20"	"70"	"X"	"48369724"	"48369724"	"subst"	"0"	"00000"	"PORCN_000007"	"g.48369724G>A"	""	"{PMID:Zanolli 2020:32141364}"	""	"PORCN c.178G>A"	"no protein change given, probably hemizygous (gender unknown)"	"Unknown"	"?"	""	"0"	""	""	"g.48511336G>A"	""	"likely pathogenic"	""
"0000856643"	"0"	"30"	"X"	"48370793"	"48370793"	"subst"	"7.91121E-5"	"01943"	"PORCN_000177"	"g.48370793G>A"	""	""	""	"PORCN(NM_001282167.1):c.240G>A (p.S80=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000856644"	"0"	"50"	"X"	"48382334"	"48382334"	"subst"	"5.59394E-6"	"02325"	"EBP_000012"	"g.48382334G>A"	""	""	""	"EBP(NM_006579.2):c.175G>A (p.(Gly59Arg)), EBP(NM_006579.3):c.175G>A (p.G59R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000867403"	"0"	"30"	"X"	"48369884"	"48369884"	"subst"	"0"	"01943"	"PORCN_000176"	"g.48369884A>G"	""	""	""	"PORCN(NM_001282167.1):c.116+9A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000867404"	"0"	"70"	"X"	"48375638"	"48375638"	"subst"	"0"	"02327"	"EBP_000057"	"g.48375638G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000869089"	"0"	"70"	"X"	"48370824"	"48370824"	"dup"	"0"	"00006"	"PORCN_000178"	"g.48370824dup"	""	"{PMID:Schuermans 2022:35606766}"	""	""	"ACMG PVS1, PM2, PP3, PP4"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.48512436dup"	""	"likely pathogenic (recessive)"	""
"0000896256"	"0"	"50"	"X"	"48370293"	"48370293"	"subst"	"0"	"02325"	"PORCN_000179"	"g.48370293G>A"	""	""	""	"PORCN(NM_203475.3):c.343G>A (p.V115I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000915725"	"0"	"70"	"X"	"48374277"	"48374277"	"subst"	"0"	"02327"	"PORCN_000104"	"g.48374277G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000915726"	"0"	"50"	"X"	"48382197"	"48382197"	"subst"	"0.000108592"	"02325"	"EBP_000054"	"g.48382197C>G"	""	""	""	"EBP(NM_006579.2):c.38C>G (p.P13R), EBP(NM_006579.3):c.38C>G (p.P13R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000971121"	"0"	"30"	"X"	"48380298"	"48380298"	"subst"	"0"	"02326"	"EBP_000043"	"g.48380298G>C"	""	""	""	"EBP(NM_006579.2):c.-74+3G>C (p.(=)), EBP(NM_006579.3):c.-74+3G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000984710"	"0"	"30"	"X"	"48374169"	"48374169"	"subst"	"0"	"01804"	"PORCN_000181"	"g.48374169C>T"	""	""	""	"PORCN(NM_203475.3):c.1011C>T (p.(Ser337=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000984711"	"0"	"50"	"X"	"48375575"	"48375575"	"subst"	"2.69005E-5"	"01804"	"EBP_000061"	"g.48375575T>C"	""	""	""	"PORCN(NM_203475.3):c.1178T>C (p.(Leu393Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001006780"	"0"	"30"	"X"	"48374146"	"48374146"	"subst"	"0"	"01804"	"PORCN_000182"	"g.48374146G>C"	""	""	""	"PORCN(NM_203475.1):c.988G>C (p.(Val330Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001006781"	"0"	"30"	"X"	"48374469"	"48374469"	"subst"	"5.59989E-6"	"01804"	"EBP_000052"	"g.48374469C>T"	""	""	""	"PORCN(NM_001282167.1):c.862C>T (p.R288W), PORCN(NM_203475.1):c.1108C>T (p.(Arg370Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001044357"	"0"	"50"	"X"	"48382396"	"48382396"	"subst"	"0"	"01804"	"EBP_000055"	"g.48382396C>G"	""	""	""	"EBP(NM_006579.2):c.237C>G (p.I79M), EBP(NM_006579.3):c.237C>G (p.(Ile79Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001049741"	"0"	"90"	"X"	"48369814"	"48369814"	"subst"	"0"	"00006"	"PORCN_000010"	"g.48369814C>T"	""	"{PMID:Charng 2016:27435318}"	""	""	"ACMG PVS1, PS1, PS2"	"De novo"	""	""	"0"	""	""	"g.48511426C>T"	""	"pathogenic"	""
"0001059036"	"0"	"90"	"X"	"48372695"	"48372695"	"subst"	"0"	"00006"	"PORCN_000107"	"g.48372695G>A"	""	"{PMID:Retterer 2016:26633542}"	""	""	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.48514307G>A"	""	"pathogenic"	""
"0001067672"	"0"	"50"	"X"	"48369873"	"48369873"	"subst"	"1.67853E-5"	"02325"	"PORCN_000183"	"g.48369873G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001067673"	"0"	"50"	"X"	"48378816"	"48378816"	"subst"	"0"	"02325"	"EBP_000066"	"g.48378816T>G"	""	""	""	""	"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 PORCN
## Count = 287
"{{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}}"
"0000001919"	"00023900"	"50"	"1531"	"0"	"1532"	"0"	"c.*145_*146del"	"r.(?)"	"p.(=)"	"14"
"0000002946"	"00023900"	"50"	"1507"	"0"	"1508"	"0"	"c.*121_*122del"	"r.(?)"	"p.(=)"	"14"
"0000006796"	"00023900"	"50"	"-669"	"0"	"-669"	"0"	"c.-669C>T"	"r.(=)"	"p.(=)"	"_1"
"0000006797"	"00023900"	"50"	"-474"	"0"	"-474"	"0"	"c.-474T>C"	"r.(=)"	"p.(=)"	"_1"
"0000006798"	"00023900"	"50"	"-468"	"0"	"-468"	"0"	"c.-468C>T"	"r.(=)"	"p.(=)"	"_1"
"0000006799"	"00023900"	"50"	"373"	"150"	"373"	"150"	"c.373+150G>A"	"r.(=)"	"p.(=)"	"3i"
"0000006800"	"00023900"	"50"	"1174"	"-146"	"1174"	"-146"	"c.1174-146C>T"	"r.(=)"	"p.(=)"	"12i"
"0000008874"	"00023900"	"50"	"-669"	"0"	"-669"	"0"	"c.-669C>T"	"r.(=)"	"p.(=)"	"_1"
"0000008875"	"00023900"	"50"	"-474"	"0"	"-474"	"0"	"c.-474T>C"	"r.(=)"	"p.(=)"	"_1"
"0000008876"	"00023900"	"50"	"-468"	"0"	"-468"	"0"	"c.-468C>T"	"r.(=)"	"p.(=)"	"_1"
"0000008877"	"00023900"	"50"	"373"	"150"	"373"	"150"	"c.373+150G>A"	"r.(=)"	"p.(=)"	"3i"
"0000023107"	"00023900"	"75"	"470"	"0"	"470"	"0"	"c.470G>A"	"r.(?)"	"p.(Gly157Asp)"	"4"
"0000023108"	"00023900"	"75"	"470"	"0"	"470"	"0"	"c.470G>A"	"r.(?)"	"p.(Gly157Asp)"	"4"
"0000023109"	"00023900"	"75"	"470"	"0"	"470"	"0"	"c.470G>A"	"r.(?)"	"p.(Gly157Asp)"	"4"
"0000023111"	"00023900"	"75"	"470"	"0"	"470"	"0"	"c.470G>A"	"r.(?)"	"p.(Gly157Asp)"	"4"
"0000023112"	"00023900"	"75"	"470"	"0"	"470"	"0"	"c.470G>A"	"r.(?)"	"p.(Gly157Asp)"	"4"
"0000222872"	"00023900"	"70"	"487"	"0"	"487"	"0"	"c.487G>A"	"r.(?)"	"p.(Gly163Ser)"	"5"
"0000222873"	"00023900"	"70"	"487"	"0"	"487"	"0"	"c.487G>A"	"r.(?)"	"p.(Gly163Ser)"	"5"
"0000250522"	"00023900"	"90"	"650"	"0"	"650"	"0"	"c.650del"	"r.(?)"	"p.(Tyr217SerfsTer23)"	""
"0000299060"	"00023900"	"70"	"584"	"0"	"584"	"0"	"c.584G>C"	"r.(?)"	"p.(Arg195Pro)"	""
"0000306213"	"00023900"	"50"	"794"	"0"	"794"	"0"	"c.794C>T"	"r.(?)"	"p.(Thr265Met)"	""
"0000306214"	"00023900"	"30"	"822"	"0"	"822"	"0"	"c.822C>T"	"r.(?)"	"p.(Thr274=)"	""
"0000333984"	"00023900"	"50"	"1235"	"0"	"1235"	"0"	"c.1235A>T"	"r.(?)"	"p.(Tyr412Phe)"	""
"0000333985"	"00023900"	"50"	"4856"	"0"	"4856"	"0"	"c.*3470G>A"	"r.(=)"	"p.(=)"	""
"0000347734"	"00023900"	"50"	"340"	"0"	"340"	"0"	"c.340A>G"	"r.(?)"	"p.(Met114Val)"	""
"0000368214"	"00023900"	"90"	"205"	"0"	"205"	"0"	"c.205C>T"	"r.(?)"	"p.(Gln69*)"	"3"
"0000474418"	"00023900"	"57"	"368"	"0"	"368"	"0"	"c.368T>G"	"r.(?)"	"p.(Met123Arg)"	""
"0000474419"	"00023900"	"77"	"1055"	"0"	"1055"	"0"	"c.1055T>C"	"r.(?)"	"p.(Leu352Pro)"	""
"0000477693"	"00023900"	"99"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.0?"	"2"
"0000477694"	"00023900"	"99"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.0?"	"2"
"0000477695"	"00023900"	"99"	"49"	"0"	"49"	"0"	"c.49dup"	"r.(?)"	"p.(Cys17Leufs*11)"	"2"
"0000477696"	"00023900"	"99"	"53"	"0"	"53"	"0"	"c.53dup"	"r.(?)"	"p.(Leu19Profs*9)"	"2"
"0000477697"	"00023900"	"99"	"74"	"0"	"74"	"0"	"c.74del"	"r.(?)"	"p.(Gly25Alafs*27)"	"2"
"0000477698"	"00023900"	"99"	"166"	"0"	"167"	"0"	"c.166_167dup"	"r.(?)"	"p.(Val57Profs*60)"	"3"
"0000477699"	"00023900"	"99"	"166"	"0"	"167"	"0"	"c.166_167dup"	"r.(?)"	"p.(Val57Profs*60)"	"3"
"0000477700"	"00023900"	"99"	"178"	"0"	"178"	"0"	"c.178G>A"	"r.(?)"	"p.(Gly60Arg)"	"3"
"0000477701"	"00023900"	"99"	"178"	"0"	"178"	"0"	"c.178G>A"	"r.(?)"	"p.(Gly60Arg)"	"3"
"0000477702"	"00023900"	"99"	"221"	"0"	"221"	"0"	"c.221G>A"	"r.(?)"	"p.(Trp74*)"	"3"
"0000477703"	"00023900"	"99"	"222"	"0"	"222"	"0"	"c.222G>A"	"r.(?)"	"p.(Trp74*)"	"3"
"0000477704"	"00023900"	"99"	"268"	"0"	"268"	"0"	"c.268C>T"	"r.(?)"	"p.(Arg90*)"	"3"
"0000477705"	"00023900"	"99"	"268"	"0"	"268"	"0"	"c.268C>T"	"r.(?)"	"p.(Arg90*)"	"3"
"0000477706"	"00023900"	"99"	"268"	"0"	"268"	"0"	"c.268C>T"	"r.(?)"	"p.(Arg90*)"	"3"
"0000477707"	"00023900"	"99"	"283"	"0"	"283"	"0"	"c.283C>T"	"r.(?)"	"p.(Arg95*)"	"3"
"0000477708"	"00023900"	"99"	"283"	"0"	"283"	"0"	"c.283C>T"	"r.(?)"	"p.(Arg95*)"	"3"
"0000477709"	"00023900"	"99"	"370"	"0"	"370"	"0"	"c.370C>T"	"r.(?)"	"p.(Arg124*)"	"4"
"0000477710"	"00023900"	"99"	"370"	"0"	"370"	"0"	"c.370C>T"	"r.(?)"	"p.(Arg124*)"	"4"
"0000477711"	"00023900"	"99"	"370"	"0"	"370"	"0"	"c.370C>T"	"r.(?)"	"p.(Arg124*)"	"4"
"0000477712"	"00023900"	"99"	"370"	"0"	"370"	"0"	"c.370C>T"	"r.(?)"	"p.(Arg124*)"	"4"
"0000477713"	"00023900"	"99"	"370"	"0"	"370"	"0"	"c.370C>T"	"r.(?)"	"p.(Arg124*)"	"4"
"0000477714"	"00023900"	"99"	"373"	"1"	"373"	"1"	"c.373+1G>A"	"r.spl"	"p.?"	"4i"
"0000477715"	"00023900"	"99"	"374"	"-1"	"374"	"-1"	"c.374-1G>A"	"r.spl"	"p.?"	"4i"
"0000477716"	"00023900"	"95"	"374"	"-15"	"374"	"-15"	"c.374-15T>A"	"r.spl"	"p.?"	"4i"
"0000477717"	"00023900"	"99"	"374"	"-46"	"374"	"-46"	"c.374-46T>A"	"r.spl"	"p.(=)"	"4i"
"0000477718"	"00023900"	"99"	"407"	"0"	"407"	"0"	"c.407C>T"	"r.(?)"	"p.(Ser136Phe)"	"5"
"0000477719"	"00023900"	"99"	"479"	"0"	"479"	"0"	"c.479dup"	"r.(?)"	"p.(Tyr160*)"	"5"
"0000477720"	"00023900"	"99"	"502"	"0"	"502"	"0"	"c.502G>A"	"r.(?)"	"p.(Gly168Arg)"	"5"
"0000477721"	"00023900"	"99"	"502"	"0"	"502"	"0"	"c.502G>A"	"r.(?)"	"p.(Gly168Arg)"	"5"
"0000477722"	"00023900"	"99"	"502"	"0"	"502"	"0"	"c.502G>A"	"r.(?)"	"p.(Gly168Arg)"	"5"
"0000477723"	"00023900"	"99"	"509"	"0"	"509"	"0"	"c.509G>A"	"r.(?)"	"p.(Trp170*)"	"5"
"0000477724"	"00023900"	"99"	"509"	"0"	"509"	"0"	"c.509G>A"	"r.(?)"	"p.(Trp170*)"	"5"
"0000477725"	"00023900"	"99"	"571"	"0"	"571"	"0"	"c.571C>T"	"r.(?)"	"p.(Gln191*)"	"6"
"0000477726"	"00023900"	"99"	"577"	"0"	"577"	"0"	"c.577del"	"r.(?)"	"p.(Val193Trpfs*47)"	"6"
"0000477727"	"00023900"	"99"	"637"	"0"	"637"	"0"	"c.637del"	"r.(?)"	"p.(Tyr213Thrfs*27)"	"6"
"0000477728"	"00023900"	"33"	"682"	"0"	"682"	"0"	"c.682C>T"	"r.(?)"	"p.(Arg228Cys)"	"6"
"0000477729"	"00023900"	"99"	"737"	"0"	"737"	"0"	"c.737dup"	"r.(?)"	"p.(Ser247Glufs*69)"	"9"
"0000477730"	"00023900"	"99"	"720"	"-2"	"720"	"-2"	"c.720-2A>T"	"r.spl"	"p.?"	"8i"
"0000477731"	"00023900"	"99"	"727"	"0"	"727"	"0"	"c.727C>T"	"r.(?)"	"p.(Arg243*)"	"9"
"0000477732"	"00023900"	"99"	"727"	"0"	"727"	"0"	"c.727C>T"	"r.(?)"	"p.(Arg243*)"	"9"
"0000477733"	"00023900"	"99"	"727"	"0"	"727"	"0"	"c.727C>T"	"r.(?)"	"p.(Arg243*)"	"9"
"0000477734"	"00023900"	"99"	"727"	"0"	"727"	"0"	"c.727C>T"	"r.(?)"	"p.(Arg243*)"	"9"
"0000477735"	"00023900"	"99"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(His252Tyr)"	"9"
"0000477736"	"00023900"	"99"	"773"	"0"	"773"	"0"	"c.773T>A"	"r.(?)"	"p.(Val258Glu)"	"9"
"0000477737"	"00023900"	"99"	"787"	"0"	"792"	"0"	"c.787_792dup"	"r.(?)"	"p.(Glu263_Ala264dup)"	"9"
"0000477738"	"00023900"	"99"	"815"	"0"	"816"	"0"	"c.815_816dup"	"r.(?)"	"p.(Phe273Alafs*13)"	"9"
"0000477739"	"00023900"	"99"	"846"	"0"	"846"	"0"	"c.846G>A"	"r.(?)"	"p.(Trp282*)"	"10"
"0000477740"	"00023900"	"99"	"846"	"0"	"879"	"0"	"c.846_879del"	"r.(?)"	"p.(Trp282Cysfs*21)"	"10"
"0000477741"	"00023900"	"99"	"890"	"0"	"890"	"0"	"c.890C>T"	"r.(?)"	"p.(Ser297Leu)"	"10"
"0000477742"	"00023900"	"99"	"890"	"0"	"890"	"0"	"c.890C>T"	"r.(?)"	"p.(Ser297Leu)"	"10"
"0000477743"	"00023900"	"99"	"898"	"0"	"898"	"0"	"c.898G>T"	"r.(?)"	"p.(Glu300*)"	"10"
"0000477744"	"00023900"	"99"	"914"	"0"	"914"	"0"	"c.914G>A"	"r.(?)"	"p.(Trp305*)"	"10"
"0000477745"	"00023900"	"99"	"924"	"0"	"924"	"0"	"c.924del"	"r.(?)"	"p.(Met309Cysfs*5)"	"10"
"0000477746"	"00023900"	"99"	"935"	"0"	"935"	"0"	"c.935G>A"	"r.(?)"	"p.(Trp312*)"	"10"
"0000477747"	"00023900"	"99"	"947"	"-2"	"947"	"-2"	"c.947-2A>C"	"r.spl"	"p.?"	"10i"
"0000477748"	"00023900"	"99"	"947"	"-2"	"947"	"-2"	"c.947-2A>C"	"r.spl"	"p.?"	"10i"
"0000477749"	"00023900"	"99"	"947"	"-1"	"947"	"-1"	"c.947-1G>C"	"r.spl"	"p.?"	"10i"
"0000477750"	"00023900"	"99"	"992"	"0"	"992"	"0"	"c.992T>G"	"r.(?)"	"p.(Leu331Arg)"	"11"
"0000477751"	"00023900"	"99"	"1022"	"0"	"1022"	"0"	"c.1022A>T"	"r.(?)"	"p.(His341Leu)"	"11"
"0000477752"	"00023900"	"99"	"1045"	"0"	"1065"	"0"	"c.1045_1065del"	"r.(?)"	"p.(Ala349_Ala355del)"	"12"
"0000477753"	"00023900"	"99"	"1059"	"0"	"1071"	"0"	"c.1059_1071dup"	"r.(?)"	"p.(Thr358Profs*65)"	"12"
"0000477754"	"00023900"	"99"	"1059"	"0"	"1071"	"0"	"c.1059_1071dup"	"r.(?)"	"p.(Thr358Profs*65)"	"12"
"0000477755"	"00023900"	"99"	"1061"	"0"	"1062"	"0"	"c.1061_1062insAGGACCCT"	"r.(?)"	"p.(Ala355Glyfs*47)"	"12"
"0000477756"	"00023900"	"99"	"1064"	"0"	"1081"	"0"	"c.1064_1081del"	"r.(?)"	"p.(Ala355_Val360del)"	"12"
"0000477757"	"00023900"	"99"	"1077"	"0"	"1077"	"0"	"c.1077C>A"	"r.(?)"	"p.(Tyr359*)"	"12"
"0000477758"	"00023900"	"99"	"1082"	"0"	"1082"	"0"	"c.1082A>T"	"r.(?)"	"p.(Glu361Val)"	"12"
"0000477759"	"00023900"	"99"	"1093"	"0"	"1093"	"0"	"c.1093C>G"	"r.(?)"	"p.(Arg365Gly)"	"13"
"0000477760"	"00023900"	"99"	"1094"	"0"	"1094"	"0"	"c.1094G>A"	"r.(?)"	"p.(Arg365Gln)"	"13"
"0000477761"	"00023900"	"99"	"1094"	"0"	"1094"	"0"	"c.1094G>A"	"r.(?)"	"p.(Arg365Gln)"	"13"
"0000477762"	"00023900"	"99"	"1094"	"0"	"1094"	"0"	"c.1094G>A"	"r.(?)"	"p.(Arg365Gln)"	"13"
"0000477763"	"00023900"	"99"	"1094"	"0"	"1094"	"0"	"c.1094G>A"	"r.(?)"	"p.(Arg365Gln)"	"13"
"0000477764"	"00023900"	"99"	"1110"	"0"	"1110"	"0"	"c.1110del"	"r.(?)"	"p.(Ile371Serfs*28)"	"13"
"0000477765"	"00023900"	"99"	"1214"	"0"	"1215"	"0"	"c.1214_1215insAGA"	"r.(?)"	"p.(Leu405_Ala406insGlu)"	"14"
"0000477766"	"00023900"	"99"	"1120"	"0"	"1120"	"0"	"c.1120G>C"	"r.(?)"	"p.(Ala374Pro)"	"13"
"0000477767"	"00023900"	"99"	"1153"	"0"	"1153"	"0"	"c.1153T>C"	"r.(?)"	"p.(Cys385Arg)"	"13"
"0000477768"	"00023900"	"99"	"1154"	"0"	"1154"	"0"	"c.1154G>A"	"r.(?)"	"p.(Cys385Tyr)"	"13"
"0000477769"	"00023900"	"99"	"1186"	"0"	"1186"	"0"	"c.1186C>T"	"r.(?)"	"p.(Arg396*)"	"14"
"0000477770"	"00023900"	"99"	"1186"	"0"	"1186"	"0"	"c.1186C>T"	"r.(?)"	"p.(Arg396*)"	"13"
"0000477771"	"00023900"	"99"	"1284"	"1"	"1284"	"1"	"c.1284+1G>A"	"r.spl"	"p.?"	"14i"
"0000477772"	"00023900"	"99"	"1285"	"0"	"1297"	"0"	"c.1285_1297del"	"r.(?)"	"p.(Gly429Hisfs*28)"	"15"
"0000477773"	"00023900"	"99"	"1290"	"0"	"1290"	"0"	"c.1290C>A"	"r.(?)"	"p.(Tyr430*)"	"15"
"0000477774"	"00023900"	"99"	"1290"	"0"	"1290"	"0"	"c.1290C>A"	"r.(?)"	"p.(Tyr430*)"	"15"
"0000477775"	"00023900"	"99"	"1315"	"0"	"1315"	"0"	"c.1315T>C"	"r.(?)"	"p.(Trp439Arg)"	"15"
"0000477776"	"00023900"	"99"	"1317"	"0"	"1317"	"0"	"c.1317G>A"	"r.(?)"	"p.(Trp439*)"	"15"
"0000477777"	"00023900"	"99"	"1331"	"0"	"1331"	"0"	"c.1331G>A"	"r.(?)"	"p.(Trp444*)"	"15"
"0000477778"	"00023900"	"99"	"1344"	"0"	"1344"	"0"	"c.1344G>A"	"r.(?)"	"p.(Trp448*)"	"15"
"0000477779"	"00023900"	"99"	"1344"	"0"	"1344"	"0"	"c.1344G>A"	"r.(?)"	"p.(Trp448*)"	"15"
"0000477780"	"00023900"	"99"	"1344"	"0"	"1344"	"0"	"c.1344G>A"	"r.(?)"	"p.(Trp448*)"	"15"
"0000477781"	"00023900"	"99"	"1353"	"0"	"1353"	"0"	"c.1353dup"	"r.(?)"	"p.(Gly452Trpfs*?)"	"15"
"0000477782"	"00023900"	"99"	"26"	"0"	"373"	"155"	"c.26_373+155del"	"r.0?"	"p.0?"	"_1_3i"
"0000477783"	"00023900"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_14_"
"0000477784"	"00023900"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_14_"
"0000477785"	"00023900"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_14_"
"0000477786"	"00023900"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_14_"
"0000477787"	"00023900"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_14_"
"0000477788"	"00023900"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_14_"
"0000477789"	"00023900"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_14_"
"0000477790"	"00023900"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_14_"
"0000477791"	"00023900"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_14_"
"0000477792"	"00023900"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_14_"
"0000477793"	"00023900"	"99"	"1024"	"-2"	"1024"	"-2"	"c.1024-2A>G"	"r.spl"	"p.?"	"11i"
"0000477794"	"00023900"	"99"	"845"	"1"	"845"	"1"	"c.845+1G>C"	"r.spl"	"p.?"	"9i"
"0000477795"	"00023900"	"99"	"1094"	"0"	"1094"	"0"	"c.1094G>A"	"r.(?)"	"p.(Arg365Gln)"	"13"
"0000477796"	"00023900"	"77"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_14_"
"0000477797"	"00023900"	"97"	"1077"	"0"	"1077"	"0"	"c.1077C>G"	"r.(?)"	"p.(Tyr359*)"	"12"
"0000477798"	"00023900"	"97"	"886"	"0"	"886"	"0"	"c.886del"	"r.(?)"	"p.(Arg296Glyfs*18)"	"10"
"0000477799"	"00023900"	"97"	"373"	"0"	"373"	"0"	"c.373G>A"	"r.spl?"	"p.(Gly125Arg)"	"4"
"0000477800"	"00023900"	"99"	"727"	"0"	"727"	"0"	"c.727C>T"	"r.(?)"	"p.(Arg243*)"	"9"
"0000477801"	"00023900"	"99"	"108"	"0"	"108"	"0"	"c.108C>A"	"r.(?)"	"p.(Cys36*)"	"2"
"0000477802"	"00023900"	"99"	"136"	"2"	"136"	"2"	"c.136+2del"	"r.spl"	"p.?"	"2i"
"0000477803"	"00023900"	"99"	"283"	"0"	"283"	"0"	"c.283C>T"	"r.(?)"	"p.(Arg95*)"	"3"
"0000477804"	"00023900"	"99"	"178"	"0"	"178"	"0"	"c.178G>A"	"r.(?)"	"p.(Gly60Arg)"	"3"
"0000477805"	"00023900"	"99"	"178"	"0"	"178"	"0"	"c.178G>A"	"r.(?)"	"p.(Gly60Arg)"	"3"
"0000477806"	"00023900"	"99"	"178"	"0"	"178"	"0"	"c.178G>A"	"r.(?)"	"p.(Gly60Arg)"	"3"
"0000477807"	"00023900"	"33"	"720"	"-28"	"720"	"-28"	"c.720-28C>T"	"r.spl?"	"p.(=)"	"8i"
"0000477808"	"00023900"	"99"	"360"	"0"	"360"	"0"	"c.360G>A"	"r.(?)"	"p.(Trp120*)"	"4"
"0000477809"	"00023900"	"99"	"556"	"-1"	"556"	"-1"	"c.556-1G>C"	"r.spl"	"p.?"	"5i"
"0000477810"	"00023900"	"99"	"566"	"0"	"566"	"0"	"c.566G>A"	"r.(?)"	"p.(Trp189*)"	"6"
"0000477811"	"00023900"	"99"	"670"	"0"	"670"	"0"	"c.670dup"	"r.(?)"	"p.(Asp224Glyfs*92)"	"6"
"0000477812"	"00023900"	"33"	"330"	"-27"	"330"	"-27"	"c.330-27del"	"r.(?)"	"p.(=)"	"3i"
"0000477813"	"00023900"	"99"	"946"	"1"	"946"	"1"	"c.946+1G>A"	"r.spl"	"p.?"	"10i"
"0000477814"	"00023900"	"99"	"1021"	"0"	"1021"	"0"	"c.1021C>T"	"r.(?)"	"p.(His341Tyr)"	"11"
"0000477815"	"00023900"	"99"	"1076"	"0"	"1076"	"0"	"c.1076dup"	"r.(?)"	"p.(Tyr359*)"	"12"
"0000477816"	"00023900"	"99"	"1094"	"0"	"1094"	"0"	"c.1094G>A"	"r.(?)"	"p.(Arg365Gln)"	"13"
"0000477817"	"00023900"	"99"	"1094"	"0"	"1094"	"0"	"c.1094G>A"	"r.(?)"	"p.(Arg365Gln)"	"13"
"0000477818"	"00023900"	"99"	"1094"	"0"	"1094"	"0"	"c.1094G>A"	"r.(?)"	"p.(Arg365Gln)"	"13"
"0000477819"	"00023900"	"99"	"1094"	"0"	"1094"	"0"	"c.1094G>A"	"r.(?)"	"p.(Arg365Gln)"	"13"
"0000477820"	"00023900"	"99"	"1186"	"0"	"1186"	"0"	"c.1186C>T"	"r.(?)"	"p.(Arg396*)"	"14"
"0000477821"	"00023900"	"99"	"1288"	"0"	"1298"	"0"	"c.1288_1298del"	"r.(?)"	"p.(Tyr430Ilefs*?)"	"15"
"0000477822"	"00023900"	"99"	"1317"	"0"	"1317"	"0"	"c.1317G>A"	"r.(?)"	"p.(Trp439*)"	"15"
"0000477823"	"00023900"	"99"	"1319"	"0"	"1319"	"0"	"c.1319C>G"	"r.(?)"	"p.(Ser440*)"	"15"
"0000477824"	"00023900"	"99"	"1331"	"0"	"1331"	"0"	"c.1331G>A"	"r.(?)"	"p.(Trp444*)"	"15"
"0000477825"	"00023900"	"33"	"330"	"-11"	"330"	"-11"	"c.330-11T>A"	"r.(?)"	"p.(=)"	"3i"
"0000477826"	"00023900"	"99"	"1361"	"0"	"1361"	"0"	"c.1361G>A"	"r.(?)"	"p.(Trp454*)"	"15"
"0000477827"	"00023900"	"77"	"374"	"-15"	"374"	"-15"	"c.374-15T>A"	"r.spl"	"p.?"	"4i"
"0000477828"	"00023900"	"77"	"555"	"4"	"555"	"4"	"c.555+4A>G"	"r.spl"	"p.?"	"5i"
"0000477829"	"00023900"	"77"	"1040"	"0"	"1040"	"0"	"c.1040T>C"	"r.(?)"	"p.(Leu347Pro)"	"12"
"0000477830"	"00023900"	"77"	"1106"	"0"	"1106"	"0"	"c.1106C>T"	"r.(?)"	"p.(Ala369Val)"	"13"
"0000477831"	"00023900"	"99"	"848"	"0"	"854"	"0"	"c.848_854dup"	"r.(?)"	"p.(Val286Profs*32)"	"10"
"0000477832"	"00023900"	"99"	"136"	"1"	"136"	"1"	"c.136+1G>A"	"r.spl"	"p.?"	"2i"
"0000477833"	"00023900"	"99"	"129"	"0"	"129"	"0"	"c.129G>A"	"r.(?)"	"p.(Trp43*)"	"2"
"0000477834"	"00023900"	"33"	"1284"	"32"	"1284"	"32"	"c.1284+32C>A"	"r.(?)"	"p.(=)"	"14i"
"0000477835"	"00023900"	"99"	"1290"	"0"	"1290"	"0"	"c.1290C>A"	"r.(?)"	"p.(Tyr430*)"	"15"
"0000477836"	"00023900"	"99"	"1290"	"0"	"1290"	"0"	"c.1290C>A"	"r.(?)"	"p.(Tyr430*)"	"15"
"0000477837"	"00023900"	"99"	"1024"	"-1"	"1024"	"-1"	"c.1024-1G>A"	"r.spl"	"p.?"	"11i"
"0000477838"	"00023900"	"77"	"137"	"-3"	"137"	"-3"	"c.137-3A>G"	"r.spl?"	"p.?"	"2i"
"0000477839"	"00023900"	"99"	"577"	"0"	"577"	"0"	"c.577del"	"r.(?)"	"p.(Val193Trpfs*47)"	"6"
"0000477840"	"00023900"	"77"	"584"	"0"	"601"	"0"	"c.584_601del"	"r.(?)"	"p.(Arg195_Ala200del)"	"6"
"0000477841"	"00023900"	"99"	"178"	"0"	"178"	"0"	"c.178G>A"	"r.(?)"	"p.(Gly60Arg)"	"3"
"0000477842"	"00023900"	"77"	"787"	"0"	"787"	"0"	"c.787G>A"	"r.(?)"	"p.(Glu263Lys)"	"9"
"0000477843"	"00023900"	"11"	"719"	"15"	"719"	"15"	"c.719+15C>T"	"r.spl?"	"p.(=)"	"8i"
"0000477844"	"00023900"	"77"	"938"	"0"	"938"	"0"	"c.938T>G"	"r.(?)"	"p.(Leu313Arg)"	"10"
"0000477845"	"00023900"	"11"	"719"	"15"	"719"	"15"	"c.719+15C>T"	"r.spl?"	"p.(=)"	"8i"
"0000477846"	"00023900"	"77"	"938"	"0"	"938"	"0"	"c.938T>G"	"r.(?)"	"p.(Leu313Arg)"	"10"
"0000477847"	"00023900"	"99"	"1047"	"0"	"1054"	"0"	"c.1047_1054dup"	"r.(?)"	"p.(Leu352Argfs*50)"	"12"
"0000477848"	"00023900"	"99"	"178"	"0"	"178"	"0"	"c.178G>A"	"r.(?)"	"p.(Gly60Arg)"	"3"
"0000477849"	"00023900"	"99"	"1012"	"0"	"1012"	"0"	"c.1012G>C"	"r.(?)"	"p.(Ala338Pro)"	"11"
"0000477850"	"00023900"	"99"	"845"	"2"	"845"	"2"	"c.845+2T>G"	"r.spl"	"p.?"	"9i"
"0000477851"	"00023900"	"99"	"785"	"0"	"785"	"0"	"c.785C>A"	"r.(?)"	"p.(Ser262Tyr)"	"9"
"0000477852"	"00023900"	"99"	"1179"	"0"	"1192"	"0"	"c.1179_1192del"	"r.(?)"	"p.(Gly394Lysfs*20)"	"14"
"0000477853"	"00023900"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_14_"
"0000477854"	"00023900"	"15"	"853"	"0"	"855"	"0"	"c.853_855del"	"r.(?)"	"p.(Thr285del)"	"9"
"0000477855"	"00023900"	"77"	"1250"	"0"	"1250"	"0"	"c.1250T>C"	"r.(?)"	"p.(Phe417Ser)"	"14"
"0000477856"	"00023900"	"77"	"502"	"0"	"502"	"0"	"c.502G>A"	"r.(?)"	"p.(Gly168Arg)"	"5"
"0000477857"	"00023900"	"77"	"268"	"0"	"268"	"0"	"c.268C>T"	"r.(?)"	"p.(Arg90*)"	"3"
"0000477858"	"00023900"	"77"	"129"	"0"	"129"	"0"	"c.129G>A"	"r.(?)"	"p.(Trp43*)"	"2"
"0000477859"	"00023900"	"99"	"387"	"0"	"387"	"0"	"c.387del"	"r.[373_374ins374-13_374-1,387del]"	"p.Ala126_Ile129delinsTTHRGTDD"	"5"
"0000477860"	"00023900"	"99"	"-37"	"0"	"845"	"1"	"c.-37_(845+1_846-1)del"	"r.0?"	"p.0?"	"_1_8i"
"0000477861"	"00023900"	"99"	"-37"	"0"	"845"	"1"	"c.-37_(845+1_846-1)del"	"r.0?"	"p.0?"	"_1_8i"
"0000477862"	"00023900"	"99"	"1093"	"0"	"1093"	"0"	"c.1093C>T"	"r.(?)"	"p.(Arg365Trp)"	"13"
"0000480143"	"00023900"	"77"	"823"	"0"	"823"	"0"	"c.823G>T"	"r.(?)"	"p.(Glu275*)"	""
"0000480160"	"00023900"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.?"	"p.?"	"_1_14_"
"0000480465"	"00023900"	"99"	"173"	"0"	"178"	"0"	"c.173_178delinsACT"	"r.(?)"	"p.Ala58_Gly60delins"	""
"0000484083"	"00023900"	"99"	"956"	"0"	"956"	"0"	"c.956dup"	"r.(?)"	"p.Asn320Glufs*99"	"11"
"0000484084"	"00023900"	"99"	"1061"	"0"	"1061"	"0"	"c.1061T>C"	"r.(?)"	"p.Leu354Pro"	"12"
"0000484085"	"00023900"	"99"	"67"	"0"	"67"	"0"	"c.67C>T"	"r.(?)"	"p.Gln23*"	"2"
"0000484239"	"00023900"	"99"	"1317"	"0"	"1317"	"0"	"c.1317G>A"	"r.(?)"	"p.Trp439*"	"15"
"0000484240"	"00023900"	"99"	"845"	"2"	"845"	"2"	"c.845+2T>G"	"r.spl"	"p.?"	"9"
"0000484296"	"00023900"	"99"	"136"	"2"	"136"	"2"	"c.136+2del"	"r.spl"	"p.(?)"	"2"
"0000484299"	"00023900"	"99"	"541"	"0"	"541"	"0"	"c.541C>T"	"r.(?)"	"p.Gln181*"	""
"0000484312"	"00023900"	"99"	"1059"	"0"	"1071"	"0"	"c.1059_1071dup"	"r.(?)"	"p.Thr358Profs*65"	""
"0000484313"	"00023900"	"99"	"1059"	"0"	"1071"	"0"	"c.1059_1071dup"	"r.(?)"	"p.Thr358Profs*65"	""
"0000484314"	"00023900"	"99"	"1094"	"0"	"1094"	"0"	"c.1094G>A"	"r.(?)"	"p.Arg365Gln"	"13"
"0000484315"	"00023900"	"99"	"107"	"0"	"107"	"0"	"c.107G>A"	"r.(?)"	"pCys36Tyr"	"2"
"0000484316"	"00023900"	"99"	"1076"	"0"	"1076"	"0"	"c.1076dup"	"r.(?)"	"p.Tyr359*"	"12"
"0000484317"	"00023900"	"99"	"178"	"0"	"178"	"0"	"c.178G>A"	"r.(?)"	"p.Gly60Arg"	"3"
"0000484318"	"00023900"	"99"	"607"	"0"	"607"	"0"	"c.607T>C"	"r.(?)"	"p.Cys203Arg"	"6"
"0000484319"	"00023900"	"99"	"1319"	"0"	"1319"	"0"	"c.1319C>G"	"r.(?)"	"p.Ser440*"	"15"
"0000484320"	"00023900"	"99"	"956"	"0"	"956"	"0"	"c.956dup"	"r.(?)"	"p.Asn320Glufs*99"	"10"
"0000484321"	"00023900"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	"_1_14_"
"0000484322"	"00023900"	"99"	"898"	"0"	"898"	"0"	"c.898G>T"	"r.(?)"	"p.(Glu300*)"	"10"
"0000484771"	"00023900"	"99"	"749"	"0"	"749"	"0"	"c.749C>T"	"r.(?)"	"p.Ser250Phe"	""
"0000487199"	"00023900"	"99"	"956"	"0"	"956"	"0"	"c.956dup"	"r.(?)"	"p.Asn320Glufs*99"	"11"
"0000487200"	"00023900"	"99"	"488"	"0"	"488"	"0"	"c.488del"	"r.(?)"	"p.Gly163Alafs*23"	"5"
"0000487201"	"00023900"	"99"	"1274"	"0"	"1275"	"0"	"c.1274_1275del"	"r.(?)"	"p.Thr425Argfs*45"	"14"
"0000487379"	"00023900"	"77"	"611"	"0"	"611"	"0"	"c.611T>C"	"r.(?)"	"p.Leu204Pro"	"6"
"0000487390"	"00023900"	"99"	"1093"	"0"	"1093"	"0"	"c.1093C>T"	"r.(?)"	"p.Arg365Trp"	"13"
"0000487391"	"00023900"	"99"	"571"	"0"	"571"	"0"	"c.571C>T"	"r.(?)"	"p.Gln191*"	"6"
"0000487400"	"00023900"	"11"	"137"	"-4"	"137"	"-4"	"c.137-4A>T"	"r.(?)"	"p.?"	"i2"
"0000487536"	"00023900"	"77"	"1141"	"0"	"1141"	"0"	"c.1141T>C"	"r.(?)"	"p.Cys381Arg"	"13"
"0000576213"	"00023900"	"30"	"209"	"0"	"209"	"0"	"c.209T>G"	"r.(?)"	"p.(Leu70Arg)"	""
"0000576214"	"00023900"	"30"	"289"	"0"	"289"	"0"	"c.289G>A"	"r.(?)"	"p.(Val97Ile)"	""
"0000576215"	"00023900"	"30"	"443"	"0"	"443"	"0"	"c.443C>T"	"r.(?)"	"p.(Thr148Met)"	""
"0000576216"	"00023900"	"50"	"446"	"0"	"446"	"0"	"c.446T>A"	"r.(?)"	"p.(Val149Glu)"	""
"0000576217"	"00023900"	"50"	"1271"	"0"	"1271"	"0"	"c.1271C>A"	"r.(?)"	"p.(Thr424Asn)"	""
"0000576218"	"00023900"	"30"	"1294"	"0"	"1294"	"0"	"c.1294A>C"	"r.(?)"	"p.(Met432Leu)"	""
"0000576219"	"00023900"	"30"	"1373"	"0"	"1373"	"0"	"c.1373G>A"	"r.(?)"	"p.(Arg458His)"	""
"0000576220"	"00023900"	"30"	"2820"	"0"	"2820"	"0"	"c.*1434G>C"	"r.(=)"	"p.(=)"	""
"0000576221"	"00023900"	"30"	"4694"	"0"	"4694"	"0"	"c.*3308G>A"	"r.(=)"	"p.(=)"	""
"0000578278"	"00023900"	"99"	"555"	"1"	"555"	"1"	"c.555+1G>C"	"r.(?)"	"p.?"	"intron 5"
"0000578282"	"00023900"	"99"	"720"	"-2"	"720"	"-2"	"c.720-2A>G"	"r.(?)"	"p.?"	"Intron 8"
"0000578283"	"00023900"	"99"	"137"	"-3"	"137"	"-3"	"c.137-3A>G"	"r.(?)"	"p.?"	"Intron 2"
"0000578284"	"00023900"	"99"	"621"	"0"	"621"	"0"	"c.621del"	"r.(?)"	"p.Thr208Leufs*32"	"exon 6"
"0000578373"	"00023900"	"99"	"1313"	"0"	"1313"	"0"	"c.1313dup"	"r.(?)"	"p.Trp439Valfs*"	"exon 15"
"0000578374"	"00023900"	"99"	"936"	"0"	"936"	"0"	"c.936G>A"	"r.(?)"	"p.Trp312*"	"exon 10"
"0000578398"	"00023900"	"99"	"1362"	"0"	"1362"	"0"	"c.1362G>A"	"r.(?)"	"p.Trp454*"	"exon 15"
"0000578421"	"00023900"	"99"	"858"	"0"	"859"	"0"	"c.858_859del"	"r.(?)"	"p.Ser287Glnfs*28"	"exon 10"
"0000578450"	"00023900"	"99"	"793"	"0"	"793"	"0"	"c.793del"	"r.(?)"	"p.Thr265Argfs*20"	"exon 9"
"0000578456"	"00023900"	"99"	"136"	"2"	"136"	"2"	"c.136+2T>C"	"r.spl"	"p.?"	"intron 2"
"0000578459"	"00023900"	"99"	"739"	"0"	"740"	"0"	"c.739_740del"	"r.(?)"	"p.Ser247Cysfs*68"	"exon 9"
"0000578460"	"00023900"	"99"	"1081"	"0"	"1081"	"0"	"c.1081G>T"	"r.(?)"	"p.Glu361*"	"exon 12"
"0000578511"	"00023900"	"99"	"1199"	"0"	"1199"	"0"	"c.1199del"	"r.(?)"	"p.Leu400Cysfs*61"	"exon 14"
"0000578512"	"00023900"	"99"	"1011"	"0"	"1011"	"0"	"c.1011C>G"	"r.(?)"	"p.Ser337Arg"	"exon 11"
"0000578525"	"00023900"	"99"	"1093"	"0"	"1093"	"0"	"c.1093C>T"	"r.(?)"	"p.Arg365Trp"	"exon 13"
"0000579032"	"00023900"	"99"	"1077"	"0"	"1077"	"0"	"c.1077C>A"	"r.(?)"	"p.Tyr359*"	"exon 12"
"0000579033"	"00023900"	"99"	"1093"	"0"	"1093"	"0"	"c.1093C>T"	"r.(?)"	"p.Arg365Trp"	"exon 13"
"0000619618"	"00023900"	"70"	"115"	"0"	"115"	"0"	"c.115T>C"	"r.(?)"	"p.(Cys39Arg)"	""
"0000619619"	"00023900"	"30"	"2820"	"0"	"2820"	"0"	"c.*1434G>C"	"r.(=)"	"p.(=)"	""
"0000624633"	"00023900"	"30"	"1024"	"-4"	"1024"	"-4"	"c.1024-4C>G"	"r.spl?"	"p.?"	""
"0000682470"	"00023900"	"30"	"1302"	"0"	"1302"	"0"	"c.1302C>T"	"r.(?)"	"p.(Tyr434=)"	""
"0000693616"	"00023900"	"30"	"768"	"0"	"768"	"0"	"c.768T>C"	"r.(?)"	"p.(Tyr256=)"	""
"0000693617"	"00023900"	"50"	"1010"	"0"	"1010"	"0"	"c.1010G>A"	"r.(?)"	"p.(Ser337Asn)"	""
"0000728956"	"00023900"	"30"	"137"	"-4"	"137"	"-4"	"c.137-4A>T"	"r.spl?"	"p.?"	""
"0000728957"	"00023900"	"70"	"1016"	"0"	"1016"	"0"	"c.1016T>C"	"r.(?)"	"p.(Leu339Pro)"	""
"0000728958"	"00023900"	"50"	"1108"	"0"	"1108"	"0"	"c.1108C>T"	"r.(?)"	"p.(Arg370Trp)"	""
"0000728959"	"00023900"	"30"	"4703"	"0"	"4703"	"0"	"c.*3317T>C"	"r.(=)"	"p.(=)"	""
"0000728960"	"00023900"	"50"	"4719"	"0"	"4719"	"0"	"c.*3333C>G"	"r.(=)"	"p.(=)"	""
"0000728961"	"00023900"	"50"	"4918"	"0"	"4918"	"0"	"c.*3532C>G"	"r.(=)"	"p.(=)"	""
"0000786653"	"00023900"	"90"	"1094"	"0"	"1094"	"0"	"c.1094G>A"	"r.(?)"	"p.(Arg365Gln)"	""
"0000797370"	"00023900"	"70"	"178"	"0"	"178"	"0"	"c.178G>A"	"r.(?)"	"p.(Gly60Arg)"	""
"0000817698"	"00023900"	"70"	"178"	"0"	"178"	"0"	"c.178G>A"	"r.(?)"	"p.(Gly60Arg)"	""
"0000856643"	"00023900"	"30"	"453"	"0"	"453"	"0"	"c.453G>A"	"r.(?)"	"p.(Ser151=)"	""
"0000856644"	"00023900"	"50"	"4856"	"0"	"4856"	"0"	"c.*3470G>A"	"r.(=)"	"p.(=)"	""
"0000867403"	"00023900"	"30"	"329"	"9"	"329"	"9"	"c.329+9A>G"	"r.(=)"	"p.(=)"	""
"0000867404"	"00023900"	"70"	"1241"	"0"	"1241"	"0"	"c.1241G>T"	"r.(?)"	"p.(Gly414Val)"	""
"0000869089"	"00023900"	"70"	"484"	"0"	"484"	"0"	"c.484dup"	"r.(?)"	"p.(Val162GlyfsTer63)"	""
"0000896256"	"00023900"	"50"	"343"	"0"	"343"	"0"	"c.343G>A"	"r.(?)"	"p.(Val115Ile)"	""
"0000915725"	"00023900"	"70"	"1024"	"-1"	"1024"	"-1"	"c.1024-1G>A"	"r.spl?"	"p.?"	""
"0000915726"	"00023900"	"50"	"4719"	"0"	"4719"	"0"	"c.*3333C>G"	"r.(=)"	"p.(=)"	""
"0000971121"	"00023900"	"30"	"2820"	"0"	"2820"	"0"	"c.*1434G>C"	"r.(=)"	"p.(=)"	""
"0000984710"	"00023900"	"30"	"1011"	"0"	"1011"	"0"	"c.1011C>T"	"r.(?)"	"p.(=)"	""
"0000984711"	"00023900"	"50"	"1178"	"0"	"1178"	"0"	"c.1178T>C"	"r.(?)"	"p.(Leu393Pro)"	""
"0001006780"	"00023900"	"30"	"988"	"0"	"988"	"0"	"c.988G>C"	"r.(?)"	"p.(Val330Leu)"	""
"0001006781"	"00023900"	"30"	"1108"	"0"	"1108"	"0"	"c.1108C>T"	"r.(?)"	"p.(Arg370Trp)"	""
"0001044357"	"00023900"	"50"	"4918"	"0"	"4918"	"0"	"c.*3532C>G"	"r.(=)"	"p.(=)"	""
"0001049741"	"00023900"	"90"	"268"	"0"	"268"	"0"	"c.268C>T"	"r.(?)"	"p.(Arg90Ter)"	""
"0001059036"	"00023900"	"90"	"787"	"0"	"787"	"0"	"c.787G>A"	"r.(?)"	"p.(Glu263Lys)"	""
"0001067672"	"00023900"	"50"	"327"	"0"	"327"	"0"	"c.327G>A"	"r.(?)"	"p.(Met109Ile)"	""
"0001067673"	"00023900"	"50"	"1338"	"0"	"1338"	"0"	"c.1338T>G"	"r.(?)"	"p.(Ser446Arg)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 244
"{{screeningid}}"	"{{variantid}}"
"0000000209"	"0000001919"
"0000000209"	"0000002946"
"0000000209"	"0000006796"
"0000000209"	"0000006797"
"0000000209"	"0000006798"
"0000000209"	"0000006799"
"0000000209"	"0000006800"
"0000000210"	"0000008874"
"0000000210"	"0000008875"
"0000000210"	"0000008876"
"0000000210"	"0000008877"
"0000004146"	"0000023107"
"0000004147"	"0000023108"
"0000004149"	"0000023109"
"0000004150"	"0000023111"
"0000004151"	"0000023112"
"0000133631"	"0000222872"
"0000133632"	"0000222873"
"0000164642"	"0000368214"
"0000232101"	"0000474418"
"0000232102"	"0000474419"
"0000234951"	"0000477693"
"0000234952"	"0000477694"
"0000234953"	"0000477695"
"0000234954"	"0000477696"
"0000234955"	"0000477697"
"0000234956"	"0000477698"
"0000234957"	"0000477699"
"0000234958"	"0000477700"
"0000234959"	"0000477701"
"0000234960"	"0000477702"
"0000234961"	"0000477703"
"0000234962"	"0000477704"
"0000234963"	"0000477705"
"0000234964"	"0000477706"
"0000234965"	"0000477707"
"0000234966"	"0000477708"
"0000234967"	"0000477709"
"0000234968"	"0000477710"
"0000234969"	"0000477711"
"0000234970"	"0000477712"
"0000234971"	"0000477713"
"0000234972"	"0000477714"
"0000234973"	"0000477715"
"0000234974"	"0000477716"
"0000234975"	"0000477717"
"0000234976"	"0000477718"
"0000234977"	"0000477719"
"0000234978"	"0000477720"
"0000234979"	"0000477721"
"0000234980"	"0000477722"
"0000234981"	"0000477723"
"0000234982"	"0000477724"
"0000234983"	"0000477725"
"0000234984"	"0000477726"
"0000234985"	"0000477727"
"0000234986"	"0000477728"
"0000234986"	"0000477729"
"0000234987"	"0000477730"
"0000234988"	"0000477731"
"0000234989"	"0000477732"
"0000234990"	"0000477733"
"0000234991"	"0000477734"
"0000234992"	"0000477735"
"0000234993"	"0000477736"
"0000234994"	"0000477737"
"0000234995"	"0000477738"
"0000234996"	"0000477739"
"0000234997"	"0000477740"
"0000234998"	"0000477741"
"0000234999"	"0000477742"
"0000235000"	"0000477743"
"0000235001"	"0000477744"
"0000235002"	"0000477745"
"0000235003"	"0000477746"
"0000235004"	"0000477747"
"0000235005"	"0000477748"
"0000235006"	"0000477749"
"0000235007"	"0000477750"
"0000235008"	"0000477751"
"0000235009"	"0000477752"
"0000235010"	"0000477753"
"0000235011"	"0000477754"
"0000235012"	"0000477755"
"0000235013"	"0000477756"
"0000235014"	"0000477757"
"0000235015"	"0000477758"
"0000235016"	"0000477759"
"0000235017"	"0000477760"
"0000235018"	"0000477761"
"0000235019"	"0000477762"
"0000235020"	"0000477763"
"0000235021"	"0000477764"
"0000235022"	"0000477765"
"0000235023"	"0000477766"
"0000235024"	"0000477767"
"0000235025"	"0000477768"
"0000235026"	"0000477769"
"0000235027"	"0000477770"
"0000235028"	"0000477771"
"0000235029"	"0000477772"
"0000235030"	"0000477773"
"0000235031"	"0000477774"
"0000235032"	"0000477775"
"0000235033"	"0000477776"
"0000235034"	"0000477777"
"0000235035"	"0000477778"
"0000235036"	"0000477779"
"0000235037"	"0000477780"
"0000235038"	"0000477781"
"0000235039"	"0000477782"
"0000235040"	"0000477783"
"0000235041"	"0000477784"
"0000235042"	"0000477785"
"0000235043"	"0000477786"
"0000235044"	"0000477787"
"0000235045"	"0000477788"
"0000235046"	"0000477789"
"0000235047"	"0000477790"
"0000235048"	"0000477791"
"0000235049"	"0000477792"
"0000235050"	"0000477793"
"0000235051"	"0000477794"
"0000235052"	"0000477795"
"0000235053"	"0000477796"
"0000235054"	"0000477797"
"0000235055"	"0000477798"
"0000235056"	"0000477799"
"0000235057"	"0000477800"
"0000235058"	"0000477801"
"0000235059"	"0000477802"
"0000235060"	"0000477803"
"0000235061"	"0000477804"
"0000235062"	"0000477805"
"0000235063"	"0000477806"
"0000235063"	"0000477807"
"0000235064"	"0000477808"
"0000235065"	"0000477809"
"0000235066"	"0000477810"
"0000235067"	"0000477811"
"0000235068"	"0000477812"
"0000235068"	"0000477813"
"0000235069"	"0000477814"
"0000235070"	"0000477815"
"0000235071"	"0000477816"
"0000235072"	"0000477817"
"0000235073"	"0000477818"
"0000235074"	"0000477819"
"0000235075"	"0000477820"
"0000235076"	"0000477821"
"0000235077"	"0000477822"
"0000235078"	"0000477823"
"0000235079"	"0000477824"
"0000235079"	"0000477825"
"0000235080"	"0000477826"
"0000235081"	"0000477827"
"0000235082"	"0000477828"
"0000235083"	"0000477829"
"0000235084"	"0000477830"
"0000235085"	"0000477831"
"0000235086"	"0000477832"
"0000235087"	"0000477833"
"0000235088"	"0000477834"
"0000235089"	"0000477835"
"0000235090"	"0000477836"
"0000235091"	"0000477837"
"0000235092"	"0000477838"
"0000235093"	"0000477839"
"0000235094"	"0000477840"
"0000235095"	"0000477841"
"0000235096"	"0000477842"
"0000235097"	"0000477843"
"0000235097"	"0000477844"
"0000235098"	"0000477845"
"0000235098"	"0000477846"
"0000235099"	"0000477847"
"0000235100"	"0000477848"
"0000235101"	"0000477849"
"0000235102"	"0000477850"
"0000235103"	"0000477851"
"0000235104"	"0000477852"
"0000235105"	"0000477853"
"0000235106"	"0000477854"
"0000235107"	"0000477855"
"0000235108"	"0000477856"
"0000235109"	"0000477857"
"0000235110"	"0000477858"
"0000235111"	"0000477859"
"0000235112"	"0000477860"
"0000235113"	"0000477861"
"0000235114"	"0000477862"
"0000236433"	"0000480143"
"0000236443"	"0000480160"
"0000236492"	"0000480465"
"0000240087"	"0000484083"
"0000240088"	"0000484084"
"0000240089"	"0000484085"
"0000240205"	"0000484239"
"0000240210"	"0000484240"
"0000240265"	"0000484296"
"0000240268"	"0000484299"
"0000240278"	"0000484312"
"0000240279"	"0000484313"
"0000240280"	"0000484314"
"0000240281"	"0000484315"
"0000240282"	"0000484316"
"0000240283"	"0000484317"
"0000240284"	"0000484318"
"0000240285"	"0000484319"
"0000240286"	"0000484320"
"0000240287"	"0000484321"
"0000240288"	"0000484322"
"0000240720"	"0000484771"
"0000241329"	"0000487199"
"0000241330"	"0000487200"
"0000241331"	"0000487201"
"0000241436"	"0000487379"
"0000241443"	"0000487390"
"0000241444"	"0000487391"
"0000241449"	"0000487400"
"0000241526"	"0000487536"
"0000249495"	"0000578278"
"0000249499"	"0000578282"
"0000249500"	"0000578283"
"0000249501"	"0000578284"
"0000249573"	"0000578373"
"0000249574"	"0000578374"
"0000249592"	"0000578398"
"0000249613"	"0000578421"
"0000249630"	"0000578450"
"0000249632"	"0000578456"
"0000249634"	"0000578459"
"0000249635"	"0000578460"
"0000249638"	"0000578511"
"0000249640"	"0000578512"
"0000249644"	"0000578525"
"0000249953"	"0000579032"
"0000249954"	"0000579033"
"0000375312"	"0000786653"
"0000383309"	"0000797370"
"0000388900"	"0000817698"
"0000411852"	"0000869089"
"0000469443"	"0001049741"
"0000470914"	"0001059036"