### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CYP1B1)
# 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}}"
"CYP1B1" "cytochrome P450, family 1, subfamily B, polypeptide 1" "2" "p22.2" "unknown" "NG_008386.1" "UD_132118390694" "" "http://www.LOVD.nl/CYP1B1" "Human Cytochrome P450 (CYP)Allele Nomenclature Committee \r\nPharmGKB CYP1B1 " "1" "2597" "1545" "601771" "1" "1" "1" "1" "CYP1B1 reference haplotypes\r\nHaplotypes are assigned by the Human Cytochrome P450 (CYP) Allele Nomenclature Committee; current CYP1B1 list" "" "g" "http://databases.lovd.nl/shared/refseq/CYP1B1_codingDNA.html" "1" "" "CYP1B1 reference haplotypes" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2015-10-05 08:52:28" "00000" "2025-07-08 13:22:38"
## 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}}"
"00005992" "CYP1B1" "cytochrome P450, family 1, subfamily B, polypeptide 1" "001" "NM_000104.3" "" "NP_000095.2" "" "" "" "-402" "4751" "1632" "38303323" "38294746" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 12
"{{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" "" ""
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33"
"00356" "MCOP" "microphthalmia (MCOP)" "" "" "" "" "" "00006" "2014-03-14 18:41:31" "00006" "2015-12-07 07:11:25"
"00420" "STGD1" "Stargardt disease, type 1 (STGD1)" "AR" "248200" "" "" "" "00006" "2014-06-16 23:00:12" "00006" "2020-11-19 10:59:15"
"01814" "GLC3A" "glaucoma, congenital, primary, type 3A (GLC-3A)" "AR" "231300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02331" "GLC3B" "glaucoma, congenital, primary infantile, type 3B (GLC-3B)" "" "600975" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02487" "ASGD5" "dysgenesis, anterior segment, type 5, multiple subtypes" "AD" "604229" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04196" "GLC" "glaucoma, congenital (GLC)" "" "" "" "" "" "00006" "2015-02-15 22:39:13" "00006" "2015-05-14 15:57:33"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"04267" "-" "glaucoma" "" "" "" "" "" "00006" "2015-05-14 15:50:28" "" ""
"06466" "ASGD6" "Anterior segment dysgenesis 6, multiple subtypes" "" "617315" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{geneid}}" "{{diseaseid}}"
"CYP1B1" "01814"
"CYP1B1" "02331"
"CYP1B1" "02487"
"CYP1B1" "06466"
## Individuals ## Do not remove or alter this header ##
## Count = 446
"{{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}}"
"00035475" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035476" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035477" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035478" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035479" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035480" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035481" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035482" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035483" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00051759" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051760" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051761" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051762" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051763" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051764" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051765" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051766" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051767" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051768" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051769" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051770" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051771" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051772" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051773" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051774" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051775" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051776" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051777" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051778" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051779" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051780" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051781" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051782" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051783" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051784" "" "" "" "1" "" "01294" "" "reference haplotype" "" "-" "" "" "0" "" "" "" ""
"00051785" "" "" "" "134" "" "00006" "" "" "" "-" "United States" "" "0" "" "" "white" ""
"00051786" "" "" "" "82" "" "00006" "" "" "" "-" "United States" "" "0" "" "" "African American" ""
"00051787" "" "" "" "57" "" "00006" "" "" "" "-" "United States" "" "0" "" "" "white" ""
"00051788" "" "" "" "4" "" "00006" "" "" "" "-" "United States" "" "0" "" "" "African American" ""
"00051789" "" "" "" "1" "" "00006" "" "" "" "-" "United States" "" "0" "" "" "" ""
"00051790" "" "" "" "27" "" "00006" "" "" "" "-" "United States" "" "0" "" "" "" ""
"00051791" "" "" "" "85" "" "00006" "" "" "" "-" "United States" "" "0" "" "" "" ""
"00051792" "" "" "" "5" "" "00006" "" "" "" "-" "United States" "" "0" "" "" "" ""
"00051793" "" "" "" "48" "" "00006" "" "" "" "-" "United States" "" "0" "" "" "" ""
"00051794" "" "" "" "19" "" "00006" "" "" "" "-" "United States" "" "0" "" "" "" ""
"00051795" "" "" "" "96" "" "00006" "" "" "" "-" "United States" "" "0" "" "" "" ""
"00051796" "" "" "" "4" "" "00006" "" "" "" "-" "United States" "" "0" "" "" "" ""
"00051797" "" "" "" "49" "" "00006" "" "" "" "-" "United States" "" "0" "" "" "" ""
"00051798" "" "" "" "44" "" "00006" "" "" "" "-" "Ethiopia" "" "0" "" "" "" ""
"00051799" "" "" "" "21" "" "00006" "" "" "" "-" "Ethiopia" "" "0" "" "" "" ""
"00051800" "" "" "" "19" "" "00006" "" "" "" "-" "Ethiopia" "" "0" "" "" "" ""
"00051801" "" "" "" "10" "" "00006" "" "" "" "-" "Ethiopia" "" "0" "" "" "" ""
"00051802" "" "" "" "10" "" "00006" "" "" "" "-" "Ethiopia" "" "0" "" "" "" ""
"00051803" "" "" "" "9" "" "00006" "" "" "" "-" "Ethiopia" "" "0" "" "" "" ""
"00051804" "" "" "" "8" "" "00006" "" "" "" "-" "Ethiopia" "" "0" "" "" "" ""
"00051805" "" "" "" "8" "" "00006" "" "" "" "-" "Ethiopia" "" "0" "" "" "" ""
"00051806" "" "" "" "7" "" "00006" "" "" "" "-" "Ethiopia" "" "0" "" "" "" ""
"00051807" "" "" "" "3" "" "00006" "" "" "" "-" "Ethiopia" "" "0" "" "" "" ""
"00051808" "" "" "" "3" "" "00006" "" "" "" "-" "Ethiopia" "" "0" "" "" "" ""
"00051809" "" "" "" "2" "" "00006" "" "" "" "-" "Ethiopia" "" "0" "" "" "" ""
"00051810" "" "" "" "1" "" "00006" "" "" "" "-" "Ethiopia" "" "0" "" "" "" ""
"00051811" "" "" "" "1" "" "00006" "" "" "" "-" "Ethiopia" "" "0" "" "" "" ""
"00051812" "" "" "" "1" "" "00006" "" "" "" "-" "Ethiopia" "" "0" "" "" "" ""
"00051813" "" "" "" "1" "" "00006" "" "" "" "-" "Ethiopia" "" "0" "" "" "" ""
"00051814" "" "" "" "1" "" "00006" "" "" "" "-" "Ethiopia" "" "0" "" "" "" ""
"00051815" "" "" "" "1" "" "00006" "" "" "" "-" "" "" "0" "" "" "" ""
"00051816" "" "" "" "1" "" "00006" "" "" "" "-" "" "" "0" "" "" "" ""
"00051817" "" "" "" "8" "" "00006" "" "3-generation family, 8 unaffected carriers" "" "no" "Turkey" "" "0" "" "" "" ""
"00051818" "" "" "" "2" "" "00006" "" "2-generation family, 2 affected father/son" "" "yes" "Turkey" "" "0" "" "" "" ""
"00051819" "" "" "" "2" "" "00006" "" "2-generation family, unaffected carrier mother/daugther" "" "yes" "Turkey" "" "0" "" "" "" ""
"00051820" "" "" "" "4" "" "00006" "" "2-generation family, unaffected carrier parents/2 sisters" "" "yes" "Turkey" "" "0" "" "" "" ""
"00051821" "" "" "" "4" "" "00006" "" "2-generation family, 4 affected sibs" "" "yes" "Turkey" "" "0" "" "" "" ""
"00051822" "" "" "" "4" "" "00006" "" "2-generation family, 4 unaffected carriers" "" "yes" "Turkey" "" "0" "" "" "" ""
"00051823" "" "" "" "3" "" "00006" "" "2-generation family, unaffected carrier parents/brother" "" "yes" "Turkey" "" "0" "" "" "" ""
"00051824" "" "" "" "7" "" "00006" "" "" "" "-" "Turkey;United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00051825" "" "" "" "36" "" "00006" "" "" "" "-" "Turkey;United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00051826" "" "" "" "9" "" "00006" "" "" "" "-" "Turkey;United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00051827" "" "" "" "40" "" "00006" "" "" "" "-" "Turkey;United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00051828" "" "" "" "11" "" "00006" "" "" "" "-" "Turkey;United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00051829" "" "" "" "35" "" "00006" "" "" "" "-" "Turkey;United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00051830" "" "" "" "7" "" "00006" "" "" "" "-" "Turkey;United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00051831" "" "" "" "34" "" "00006" "" "" "" "-" "Turkey;United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00051832" "" "" "" "51" "" "00006" "" "" "" "-" "Turkey;United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00051833" "" "" "" "39" "" "00006" "" "" "" "-" "Turkey;United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00051834" "" "" "" "9" "" "00006" "" "" "" "-" "Turkey;United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00051835" "" "" "" "39" "" "00006" "" "" "" "-" "Turkey;United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00051836" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051837" "" "" "" "2" "" "00006" "{PMID:Stoilov 1998:9497261}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/3 sibs" "M" "no" "Turkey" "" "0" "" "" "" ""
"00051838" "" "" "" "2" "" "00006" "{PMID:Stoilov 1998:9497261}" "2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents/brother" "" "no" "Turkey" "" "0" "" "" "" ""
"00051839" "" "" "" "2" "" "00006" "{PMID:Stoilov 1998:9497261}" "2-generation family, 2 sisters, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" ""
"00051840" "" "" "" "2" "" "00006" "" "2-generation family, 2 affecteds" "" "yes" "Turkey" "" "0" "" "" "" ""
"00051841" "" "" "" "1" "" "00006" "{PMID:Stoilov 1998:9497261}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/2 sibs" "M" "yes" "Canada" "" "0" "" "" "French Canadian" ""
"00051842" "" "" "" "1" "" "00006" "{PMID:Stoilov 1998:9497261}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/brother" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00051843" "" "" "" "2" "" "00006" "{PMID:Stoilov 1998:9497261}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/sister" "F" "no" "Turkey" "" "0" "" "" "" ""
"00051844" "" "" "" "2" "" "00006" "{PMID:Stoilov 1998:9497261}" "2-generation family, 2 affecteds, unaffected heterozygous carrier parents" "F" "no" "United States" "" "0" "" "" "Hispanic" ""
"00051845" "" "" "" "1" "" "00006" "" "2-generation family, unaffected carrier parent" "" "no" "United States" "" "0" "" "" "Hispanic" ""
"00051846" "" "" "" "2" "" "00006" "{PMID:Stoilov 1998:9497261}" "2-generation family, affected brother/sister, unaffected heterozygous carrier mother, father non-carrier" "" "no" "United States" "" "0" "" "" "" ""
"00051847" "" "" "" "1" "" "00006" "" "2-generation family, unaffected carrier parents/brother" "" "no" "Canada" "" "0" "" "" "French" ""
"00051848" "" "" "" "3" "" "00006" "" "2-generation family, unaffected carrier parents/half-sister" "" "yes" "Canada" "" "0" "" "" "French" ""
"00051849" "" "" "" "5" "" "00006" "" "2-generation family, unaffected carrier parents/sister/2 brothers" "" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" ""
"00051850" "" "" "" "2" "" "00006" "" "2-generation family, unaffected carrier mother/brother" "" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00051852" "" "" "" "2" "" "00006" "" "2-generation family, unaffected carrier parents" "" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" ""
"00051853" "" "" "" "2" "" "00006" "" "2-generation family, unaffected carrier parents" "" "yes" "Turkey" "" "0" "" "" "" ""
"00051854" "" "" "" "4" "" "00006" "" "4-generation mixed family, 3 unaffected carrier parent/brother" "" "yes" "Turkey" "" "0" "" "" "" ""
"00051855" "" "" "" "1" "" "00006" "" "4-generation mixed family, unaffected carrier parent" "" "no" "Turkey" "" "0" "" "" "" ""
"00051856" "" "" "" "1" "" "00006" "" "2-generation family, unaffected carrier father" "" "no" "Turkey" "" "0" "" "" "" ""
"00051858" "" "" "" "3" "" "00006" "" "2-generation family, unaffected carrier parents/brother" "" "no" "Turkey" "" "0" "" "" "" ""
"00051859" "" "" "" "1" "" "00006" "" "2-generation family, unaffected carrier father" "" "yes" "Turkey" "" "0" "" "" "" ""
"00051860" "" "" "" "1" "" "00006" "" "2-generation family, unaffected carrier mother" "" "yes" "Turkey" "" "0" "" "" "" ""
"00051861" "" "" "" "1" "" "00006" "" "2-generation family, unaffected carrier parents" "" "no" "Turkey" "" "0" "" "" "" ""
"00051864" "" "" "" "4" "" "00006" "" "2-generation family, unaffected carrier parents/2 sister" "" "yes" "Turkey" "" "0" "" "" "" ""
"00051865" "" "" "" "3" "" "00006" "" "2-generation family, unaffected carrier parents/brother" "" "no" "Turkey" "" "0" "" "" "" ""
"00051867" "" "" "" "2" "" "00006" "" "4-generation mixed family, 2 homozygous affecteds" "" "yes" "Turkey" "" "0" "" "" "" ""
"00051868" "" "" "" "1" "" "00006" "" "4-generation mixed family, 1 heterozygous affected" "" "no" "Turkey" "" "0" "" "" "" ""
"00051870" "" "" "" "2" "" "00006" "" "2-generation family, 2 affecteds" "" "no" "Turkey" "" "0" "" "" "" ""
"00051871" "" "" "" "1" "" "00006" "{PMID:Stoilov 1998:9497261}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/brother" "M" "no" "United States" "" "0" "" "" "Hispanic" ""
"00051872" "" "" "" "3" "" "00006" "" "2-generation family, 3 affecteds" "" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" ""
"00051873" "" "" "" "2" "" "00006" "" "2-generation family, 2 affecteds" "" "yes" "United States" "" "0" "" "" "" ""
"00051874" "" "" "" "2" "" "00006" "" "2-generation family, 2 affecteds" "" "no" "Turkey" "" "0" "" "" "" ""
"00051875" "" "" "" "3" "" "00006" "{PMID:Stoilov 1998:9497261}" "2-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents" "" "no" "Turkey" "" "0" "" "" "" ""
"00051876" "" "" "" "3" "" "00006" "" "2-generation family, 3 affecteds" "" "yes" "Turkey" "" "0" "" "" "" ""
"00051877" "" "" "" "2" "" "00006" "" "2-generation family, affected brother/sister" "" "yes" "Turkey" "" "0" "" "" "" ""
"00051878" "" "" "" "3" "" "00006" "" "2-generation family, 3 affected sibs" "" "yes" "Turkey" "" "0" "" "" "" ""
"00051879" "" "" "" "3" "" "00006" "" "3-generation family, 3 affecteds" "" "no" "Turkey" "" "0" "" "" "" ""
"00051880" "" "" "" "1" "" "00006" "" "" "" "?" "Saudi Arabia" "" "0" "" "" "" ""
"00051881" "" "" "" "1" "" "00006" "" "" "" "?" "Saudi Arabia" "" "0" "" "" "" ""
"00051882" "" "" "" "1" "" "00006" "" "" "" "?" "Saudi Arabia" "" "0" "" "" "" ""
"00051883" "" "" "" "1" "" "00006" "" "" "" "?" "Saudi Arabia" "" "0" "" "" "" ""
"00051884" "" "" "" "1" "" "00006" "" "" "" "?" "Saudi Arabia" "" "0" "" "" "" ""
"00051885" "" "" "" "1" "" "00006" "" "" "" "?" "Saudi Arabia" "" "0" "" "" "" ""
"00051886" "" "" "" "1" "" "00006" "" "" "" "?" "Saudi Arabia" "" "0" "" "" "" ""
"00051887" "" "" "" "1" "" "00006" "" "" "" "?" "Saudi Arabia" "" "0" "" "" "" ""
"00051888" "" "" "" "1" "" "00006" "" "" "" "?" "Saudi Arabia" "" "0" "" "" "" ""
"00051889" "" "" "" "1" "" "00006" "" "" "" "?" "Saudi Arabia" "" "0" "" "" "" ""
"00051890" "" "" "" "1" "" "00006" "" "" "" "?" "Saudi Arabia" "" "0" "" "" "" ""
"00051891" "" "" "" "8" "" "00006" "" "pseudo-dominant inheritance" "" "yes" "Saudi Arabia" "" "0" "" "" "" ""
"00051892" "" "" "" "1" "" "00006" "" "" "" "?" "Saudi Arabia" "" "0" "" "" "" ""
"00051893" "" "" "" "1" "" "00006" "" "" "" "?" "Saudi Arabia" "" "0" "" "" "" ""
"00051894" "" "" "" "2" "" "00006" "" "pseudo-dominant inheritance" "" "yes" "Saudi Arabia" "" "0" "" "" "" ""
"00051895" "" "" "" "5" "" "00006" "" "pseudo-dominant inheritance" "" "yes" "Saudi Arabia" "" "0" "" "" "" ""
"00051896" "" "" "" "1" "" "00006" "" "" "" "?" "Saudi Arabia" "" "0" "" "" "" ""
"00051897" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051898" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051899" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051900" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051901" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051902" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051903" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051904" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051905" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051906" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051907" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051908" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051909" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051910" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051911" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051912" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051913" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051914" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051915" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051916" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051917" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051918" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051919" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051920" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051921" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051922" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051923" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051924" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051925" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051926" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051927" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051928" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051929" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051930" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051931" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051932" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051933" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051934" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051935" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051936" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051937" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051938" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051939" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051940" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051941" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051942" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051943" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051944" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051945" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051946" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051947" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051948" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051949" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051950" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051951" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051952" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051953" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051954" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051955" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051956" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051957" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051958" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051959" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051960" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051961" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051962" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051963" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051964" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051965" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051966" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051967" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051968" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051969" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051970" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051971" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051972" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051973" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051974" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051975" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051976" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051977" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051978" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051979" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051980" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051981" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051982" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051983" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051984" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051985" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051986" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051987" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051988" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051989" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051990" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051991" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051992" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051993" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051994" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051995" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051996" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051997" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051998" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00051999" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052000" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052001" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052002" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052003" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052004" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052005" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052006" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052007" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052008" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052009" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052010" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052011" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052012" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052013" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052014" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052015" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052016" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052017" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052018" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052019" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052020" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052021" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052022" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052023" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052024" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052025" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052026" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052027" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052028" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052029" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052030" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00052031" "" "" "" "1" "" "00006" "" "" "" "?" "" "" "0" "" "" "" ""
"00054892" "" "" "" "1" "" "01239" "" "" "" "" "" "" "0" "" "" "Hispanic" ""
"00054893" "" "" "" "1" "" "01239" "" "" "" "" "" "" "0" "" "" "white" ""
"00054894" "" "" "" "1" "" "01239" "" "" "" "" "" "" "0" "" "" "" ""
"00060206" "" "" "" "2" "" "00245" "{PMID:Prokudin 2014:24281366}" "2-generation family, affected sister/brother" "" "" "Australia" "" "0" "" "" "" "Fam9PatII1/2"
"00060207" "" "" "" "1" "" "00245" "{PMID:Prokudin 2014:24281366}" "2-generation family, 1 affected" "M" "" "Australia" "" "0" "" "" "India" "Fam11PatII1"
"00081683" "" "" "" "1" "" "00006" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "family, 5 affecteds, individual 6" "F" "" "Pakistan" "" "0" "" "" "" ""
"00081684" "" "" "" "4" "" "00006" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "family, 4 affecteds" "M" "" "Pakistan" "" "0" "" "IOP controlled through surgery and medical treatment" "" ""
"00081685" "" "" "" "6" "" "00006" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "family, 6 affecteds" "" "" "Pakistan" "" "0" "" "" "" ""
"00081686" "" "" "" "2" "" "00006" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "family, 2 affecteds" "F" "" "Pakistan" "" "0" "" "" "" ""
"00081687" "" "" "" "2" "" "00006" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "family, 2 affecteds" "M" "" "Pakistan" "" "0" "" "IOP controlled through surgery and medical treatment" "" ""
"00081688" "" "" "" "5" "" "00006" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "family, 5 affecteds" "M" "" "Pakistan" "" "0" "" "" "" ""
"00081689" "" "" "" "4" "" "00006" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "family, 4 affecteds" "F" "" "Pakistan" "" "0" "" "" "" ""
"00081690" "" "" "" "3" "" "00006" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "family, 3 affecteds" "" "" "Pakistan" "" "0" "" "" "" ""
"00081691" "" "" "" "1" "" "00006" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "family, 1 affecteds" "M" "" "Pakistan" "" "0" "" "" "" ""
"00081692" "" "" "" "1" "" "00006" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "family, 1 affecteds" "" "" "Pakistan" "" "0" "" "" "" ""
"00081693" "" "" "" "2" "" "00006" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "family, 2 affecteds" "" "" "Pakistan" "" "0" "" "" "" ""
"00081694" "" "" "" "4" "" "00006" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "family, 4 affecteds" "M" "" "Pakistan" "" "0" "" "" "" ""
"00081695" "" "" "" "6" "" "00006" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "family, 6 affecteds" "F" "" "Pakistan" "" "0" "" "IOP controlled through surgery and medical treatment" "" ""
"00081696" "" "" "" "3" "" "00006" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "family, 3 affecteds" "" "" "Pakistan" "" "0" "" "" "" ""
"00081697" "" "" "" "7" "" "00006" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "family, 7 affecteds" "F" "" "Pakistan" "" "0" "" "" "" ""
"00081698" "" "" "" "3" "" "00006" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "family, 3 affecteds" "" "" "Pakistan" "" "0" "" "" "" ""
"00081699" "" "" "" "3" "" "00006" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "family, 3 affecteds" "" "" "Pakistan" "" "0" "" "" "" ""
"00081700" "" "" "" "4" "" "00006" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "family, 4 affecteds" "M" "" "Pakistan" "" "0" "" "IOP controlled through surgery and medical treatment" "" ""
"00081701" "" "" "" "3" "" "00006" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "family, 3 affecteds" "F" "" "Pakistan" "" "0" "" "" "" ""
"00081702" "" "" "" "5" "" "00006" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "family, 5 affecteds" "M" "" "Pakistan" "" "0" "" "" "" ""
"00081703" "" "" "" "4" "" "00006" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "family, 4 affecteds" "F" "" "Pakistan" "" "0" "" "" "" ""
"00081704" "" "" "" "6" "" "00006" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "family, 6 affecteds" "F" "" "Pakistan" "" "0" "" "" "" ""
"00081705" "" "" "" "3" "" "00006" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "family, 3 affecteds" "M" "" "Pakistan" "" "0" "" "" "" ""
"00207596" "" "" "" "4" "" "01244" "" "" "F" "" "" "" "0" "" "" "" ""
"00292732" "" "" "" "105" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292733" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292734" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292735" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00295753" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" ""
"00296400" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" ""
"00296853" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" ""
"00304822" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00331744" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "07-00457"
"00331745" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "DG08RC00073"
"00331746" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "08DG-00218"
"00331747" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00106"
"00331748" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00425"
"00331749" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00426"
"00331750" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00432"
"00331751" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00433"
"00331752" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00434"
"00331753" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00460"
"00331754" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00692"
"00331755" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00696"
"00331756" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00743"
"00331757" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00817"
"00331758" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00913"
"00331759" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00915"
"00331760" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00938"
"00331761" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00940"
"00331762" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00941"
"00331763" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01070"
"00331764" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01071"
"00331765" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01112"
"00331766" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01113"
"00331767" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01114"
"00331768" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01116"
"00331769" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01117"
"00331770" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01109"
"00331771" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01140"
"00331772" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01141"
"00331773" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01142"
"00331774" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01144"
"00331775" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01172"
"00331776" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01175"
"00331777" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01183"
"00331778" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01211"
"00331779" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01212"
"00331780" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01213"
"00331781" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01215"
"00331782" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01225"
"00331783" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01307"
"00331784" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01308"
"00331785" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01312"
"00331786" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01314"
"00331787" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01350"
"00331788" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01453"
"00331789" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01489"
"00331790" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0110"
"00331791" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0120"
"00331792" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0152"
"00331793" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0153"
"00331794" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0159"
"00331795" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0233"
"00331796" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0431"
"00331797" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0568"
"00331798" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0679"
"00331799" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0695"
"00331800" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0728"
"00331801" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0731"
"00331802" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0785"
"00331803" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0949"
"00331804" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0950"
"00331805" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0951"
"00331806" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0977"
"00331807" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG1033"
"00331808" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG1090"
"00331809" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG1259"
"00331810" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG1266"
"00331811" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG1268"
"00331812" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG1269"
"00331813" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG1349"
"00331814" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG1785"
"00331815" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG1807"
"00331816" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG1947"
"00331817" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG0173"
"00331818" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG0188"
"00331819" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG0210"
"00331820" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG0250"
"00331821" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG0272"
"00331822" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG0288"
"00331823" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG0318"
"00331824" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG0348"
"00331825" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG0399"
"00331826" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG0442"
"00331827" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG0630"
"00331828" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG0631"
"00331829" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG0664"
"00331830" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG0665"
"00331831" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG1713"
"00331832" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG1939"
"00331833" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG2421"
"00331834" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG0128"
"00331835" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG0373"
"00331836" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG0567"
"00331837" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG0281"
"00331838" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG0613"
"00331839" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG1775"
"00331840" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG2220"
"00331841" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "14DG1602"
"00331842" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "15DG0189"
"00331843" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "15DG0473"
"00331844" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "15DG1014"
"00331845" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01069"
"00331846" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "08DG00573"
"00331847" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0322"
"00331848" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "15DG0617"
"00331849" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG0142"
"00331859" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0540"
"00331860" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "sporadic" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00431"
"00331861" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00688"
"00382095" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "127"
"00382096" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "128"
"00382097" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "136"
"00382098" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "150"
"00382099" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "155"
"00382100" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "159"
"00382101" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "167"
"00382102" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "177"
"00382103" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "180"
"00382104" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "182"
"00382105" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "226"
"00384346" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "13819"
"00385484" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "16000470"
"00385499" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "16021601"
"00385541" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "18007394"
"00385548" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "18018901"
"00408212" "" "" "" "1" "" "00000" "{PMID:Fernandez-Martinez 2011:21224891}" "" "?" "" "" "" "0" "" "" "" "99168"
"00434240" "" "" "" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "" "" "" "Pakistan" "" "0" "" "" "Asia" "Fam16024"
"00434241" "" "" "" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam23974"
"00434242" "" "" "" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam24231"
"00434243" "" "" "" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam26098"
"00444873" "" "" "" "2" "" "00006" "{PMID:Fan 2020:32883240}" "2-generation family, affected father/sib" "" "" "China" "" "0" "" "" "" "Fam13"
"00446523" "" "" "" "3" "" "00006" "{PMID:Liu 2023:37337769}" "2-generation family, affected father/daughter" "F" "" "China" "" "0" "" "" "" "Fam128Pat340"
"00446524" "" "" "00446523" "1" "" "00006" "{PMID:Liu 2023:37337769}" "father" "M" "" "China" "" "0" "" "" "" "Fam128Pat341"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 438
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"00052019" "04196"
"00052020" "04196"
"00052021" "04196"
"00052022" "04196"
"00052023" "04267"
"00052024" "04267"
"00052025" "04267"
"00052026" "04267"
"00052027" "00198"
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"00052031" "04196"
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"00054893" "02487"
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"00060206" "00356"
"00060207" "00356"
"00081683" "01814"
"00081684" "01814"
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"00207596" "04196"
"00292732" "00198"
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## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00296, 00356, 00420, 01814, 02331, 02487, 04196, 04214, 04267, 06466
## Count = 433
"{{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}}"
"0000038352" "00000" "00051759" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038353" "00000" "00051760" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038354" "00000" "00051761" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038355" "00000" "00051762" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038356" "00000" "00051763" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038357" "00000" "00051764" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038358" "00000" "00051765" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038359" "00000" "00051766" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038360" "00000" "00051767" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038361" "00000" "00051768" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038362" "00000" "00051769" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038363" "00000" "00051770" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038364" "00000" "00051771" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038365" "00000" "00051772" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038366" "00000" "00051773" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038367" "00000" "00051774" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038368" "00000" "00051775" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038369" "00000" "00051776" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038370" "00000" "00051777" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038371" "00000" "00051778" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038372" "00000" "00051779" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038373" "00000" "00051780" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038374" "00000" "00051781" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038375" "00000" "00051782" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038376" "00000" "00051783" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038377" "00000" "00051784" "01294" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038378" "00000" "00051785" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038379" "00000" "00051786" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038380" "00000" "00051787" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038381" "00000" "00051788" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038382" "00000" "00051789" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038383" "00198" "00051790" "00006" "Unknown" "" "cancer, breast" "" "" "" "" "" "" "" "" "" "" ""
"0000038384" "00198" "00051791" "00006" "Unknown" "" "cancer, breast" "" "" "" "" "" "" "" "" "" "" ""
"0000038385" "00198" "00051792" "00006" "Unknown" "" "cancer, breast" "" "" "" "" "" "" "" "" "" "" ""
"0000038386" "00198" "00051793" "00006" "Unknown" "" "cancer, breast" "" "" "" "" "" "" "" "" "" "" ""
"0000038387" "00198" "00051794" "00006" "Unknown" "" "cancer, breast" "" "" "" "" "" "" "" "" "" "" ""
"0000038388" "00198" "00051795" "00006" "Unknown" "" "cancer, breast" "" "" "" "" "" "" "" "" "" "" ""
"0000038389" "00198" "00051796" "00006" "Unknown" "" "cancer, breast" "" "" "" "" "" "" "" "" "" "" ""
"0000038390" "00198" "00051797" "00006" "Unknown" "" "cancer, breast" "" "" "" "" "" "" "" "" "" "" ""
"0000038391" "00000" "00051798" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038392" "00000" "00051799" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038393" "00000" "00051800" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038394" "00000" "00051801" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038395" "00000" "00051802" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038396" "00000" "00051803" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038397" "00000" "00051804" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038398" "00000" "00051805" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038399" "00000" "00051806" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038400" "00000" "00051807" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038401" "00000" "00051808" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038402" "00000" "00051809" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038403" "00000" "00051810" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038404" "00000" "00051811" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038405" "00000" "00051812" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038406" "00000" "00051813" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038407" "00000" "00051814" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038408" "00000" "00051815" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038409" "00000" "00051816" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038410" "00000" "00051817" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038411" "04196" "00051818" "00006" "Familial, autosomal recessive" "" "glaucoma, congenital" "" "" "" "" "" "" "" "" "" "" ""
"0000038412" "00000" "00051819" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038413" "00000" "00051820" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038414" "04196" "00051821" "00006" "Isolated (sporadic)" "" "glaucoma, congenital" "" "" "" "" "" "" "" "" "" "" ""
"0000038415" "00000" "00051822" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038416" "00000" "00051823" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038417" "00000" "00051824" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038418" "00000" "00051825" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038419" "00000" "00051826" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038420" "00000" "00051827" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038421" "00000" "00051828" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038422" "00000" "00051829" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038423" "00000" "00051830" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038424" "00000" "00051831" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038425" "00000" "00051832" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038426" "00000" "00051833" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038427" "00000" "00051834" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038428" "00000" "00051835" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038429" "00000" "00051836" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038433" "04196" "00051840" "00006" "Isolated (sporadic)" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038438" "00000" "00051845" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038440" "00000" "00051847" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038441" "00000" "00051848" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038442" "00000" "00051849" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038443" "00000" "00051850" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038445" "00000" "00051852" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038446" "00000" "00051853" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038447" "00000" "00051854" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038448" "00000" "00051855" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038449" "00000" "00051856" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038451" "00000" "00051858" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038452" "00000" "00051859" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038453" "00000" "00051860" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038454" "00000" "00051861" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038457" "00000" "00051864" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038458" "00000" "00051865" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000038460" "04196" "00051867" "00006" "Isolated (sporadic)" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038461" "04196" "00051868" "00006" "Isolated (sporadic)" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038463" "04196" "00051870" "00006" "Isolated (sporadic)" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038465" "04196" "00051872" "00006" "Isolated (sporadic)" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038466" "04196" "00051873" "00006" "Isolated (sporadic)" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038467" "04196" "00051874" "00006" "Isolated (sporadic)" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038469" "04196" "00051876" "00006" "Isolated (sporadic)" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038470" "04196" "00051877" "00006" "Isolated (sporadic)" "" "glaucoma, congenital" "" "" "" "" "" "" "" "" "" "" ""
"0000038471" "04196" "00051878" "00006" "Isolated (sporadic)" "" "glaucoma, congenital" "" "" "" "" "" "" "" "" "" "" ""
"0000038472" "04196" "00051879" "00006" "Familial, autosomal recessive" "" "glaucoma, congenital" "" "" "" "" "" "" "" "" "" "" ""
"0000038473" "04196" "00051880" "00006" "Familial" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038474" "04196" "00051881" "00006" "Familial" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038475" "04196" "00051882" "00006" "Familial" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038476" "04196" "00051883" "00006" "Familial" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038477" "04196" "00051884" "00006" "Familial" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038478" "04196" "00051885" "00006" "Familial" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038479" "04196" "00051886" "00006" "Familial" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038480" "04196" "00051887" "00006" "Familial" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038481" "04196" "00051888" "00006" "Familial" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038482" "04196" "00051889" "00006" "Familial" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038483" "04196" "00051890" "00006" "Familial" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038484" "04196" "00051891" "00006" "Familial, autosomal recessive" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038485" "04196" "00051892" "00006" "Familial" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038486" "04196" "00051893" "00006" "Familial" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038487" "04196" "00051894" "00006" "Isolated (sporadic)" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038488" "04196" "00051895" "00006" "Familial, autosomal recessive" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038489" "04196" "00051896" "00006" "Unknown" "" "glaucoma, congenital, primary (PCG)" "" "" "" "" "" "" "" "" "" "" ""
"0000038490" "00198" "00051897" "00006" "Unknown" "" "catalytic activity, increased" "" "" "" "" "" "" "" "" "" "" ""
"0000038491" "04196" "00051898" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038492" "04196" "00051899" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038493" "04196" "00051900" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038494" "04196" "00051901" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038495" "04196" "00051902" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038496" "04196" "00051903" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038497" "00198" "00051904" "00006" "Unknown" "" "cancer, breast/lung, association with" "" "" "" "" "" "" "" "" "" "" ""
"0000038498" "00198" "00051905" "00006" "Unknown" "" "catalytic activity, increased" "" "" "" "" "" "" "" "" "" "" ""
"0000038499" "04196" "00051906" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038500" "04196" "00051907" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038501" "02487" "00051908" "00006" "Unknown" "" "Peters\' anomaly" "" "" "" "" "" "" "" "" "" "" ""
"0000038502" "02487" "00051909" "00006" "Unknown" "" "Peters\' anomaly" "" "" "" "" "" "" "" "" "" "" ""
"0000038503" "04196" "00051910" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038504" "04196" "00051911" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038505" "04196" "00051912" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038506" "04196" "00051913" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038507" "04196" "00051914" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038508" "04196" "00051915" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038509" "04196" "00051916" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038510" "04196" "00051917" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038511" "04196" "00051918" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038512" "04196" "00051919" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038513" "04196" "00051920" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038514" "04196" "00051921" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038515" "04196" "00051922" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038516" "04196" "00051923" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038517" "04196" "00051924" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038518" "04196" "00051925" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038519" "04196" "00051926" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038520" "04196" "00051927" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038521" "04196" "00051928" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038522" "04196" "00051929" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038523" "04196" "00051930" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038524" "04196" "00051931" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038525" "04196" "00051932" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038526" "04196" "00051933" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038527" "04196" "00051934" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038528" "04196" "00051935" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038529" "04196" "00051936" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038530" "00198" "00051937" "00006" "Unknown" "" "cancer, prostate, association with" "" "" "" "" "" "" "" "" "" "" ""
"0000038531" "04196" "00051938" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038532" "04196" "00051939" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038533" "04196" "00051940" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038534" "04196" "00051941" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038535" "04196" "00051942" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038536" "04196" "00051943" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038537" "04196" "00051944" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038538" "04196" "00051945" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038539" "04196" "00051946" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038540" "04196" "00051947" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038541" "02487" "00051948" "00006" "Unknown" "" "Peters\' anomaly" "" "" "" "" "" "" "" "" "" "" ""
"0000038542" "04196" "00051949" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038543" "04196" "00051950" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038544" "04196" "00051951" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038545" "04196" "00051952" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038546" "04196" "00051953" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038547" "00198" "00051954" "00006" "Unknown" "" "ocular hypertension" "" "" "" "" "" "" "" "" "" "" ""
"0000038548" "04196" "00051955" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038549" "00198" "00051956" "00006" "Unknown" "" "ocular hypertension" "" "" "" "" "" "" "" "" "" "" ""
"0000038550" "04196" "00051957" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038551" "04196" "00051958" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038552" "04196" "00051959" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038553" "04196" "00051960" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038554" "04196" "00051961" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038555" "04196" "00051962" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038556" "04196" "00051963" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038557" "04196" "00051964" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038558" "04196" "00051965" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038559" "04196" "00051966" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038560" "04196" "00051967" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038561" "04196" "00051968" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038562" "04196" "00051969" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038563" "04196" "00051970" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038564" "04196" "00051971" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038565" "04196" "00051972" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038566" "04196" "00051973" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038567" "04196" "00051974" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038568" "04196" "00051975" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038569" "04196" "00051976" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038570" "04196" "00051977" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038571" "04196" "00051978" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038572" "04196" "00051979" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038573" "04196" "00051980" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038574" "00198" "00051981" "00006" "Unknown" "" "glaucoma, open angle" "" "" "" "" "" "" "" "" "" "" ""
"0000038575" "04196" "00051982" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038576" "04196" "00051983" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038577" "04196" "00051984" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038578" "04196" "00051985" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038579" "04196" "00051986" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038580" "04196" "00051987" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038581" "04196" "00051988" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038582" "04196" "00051989" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038583" "04196" "00051990" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038584" "04196" "00051991" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038585" "04196" "00051992" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038586" "04196" "00051993" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038587" "04196" "00051994" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038588" "04196" "00051995" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038589" "04196" "00051996" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038590" "04196" "00051997" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038591" "04196" "00051998" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038592" "04196" "00051999" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038593" "04196" "00052000" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038594" "04196" "00052001" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038595" "04196" "00052002" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038596" "04196" "00052003" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038597" "04196" "00052004" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038598" "04196" "00052005" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038599" "04196" "00052006" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038600" "04196" "00052007" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038601" "04196" "00052008" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038602" "04196" "00052009" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038603" "04196" "00052010" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038604" "04196" "00052011" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038605" "04196" "00052012" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038606" "04196" "00052013" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038607" "04196" "00052014" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038608" "04196" "00052015" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038609" "04196" "00052016" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038610" "04196" "00052017" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038611" "04196" "00052018" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038612" "04196" "00052019" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038613" "04196" "00052020" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038614" "04196" "00052021" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038615" "04196" "00052022" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038616" "04267" "00052023" "00006" "Unknown" "" "glaucoma" "" "" "" "" "" "" "" "" "" "" ""
"0000038617" "04267" "00052024" "00006" "Unknown" "" "glaucoma" "" "" "" "" "" "" "" "" "" "" ""
"0000038618" "04267" "00052025" "00006" "Unknown" "" "glaucoma" "" "" "" "" "" "" "" "" "" "" ""
"0000038619" "04267" "00052026" "00006" "Unknown" "" "glaucoma" "" "" "" "" "" "" "" "" "" "" ""
"0000038620" "00198" "00052027" "00006" "Unknown" "" "corneal opacification; glaucoma, infantile" "" "" "" "" "" "" "" "" "" "" ""
"0000038621" "00198" "00052028" "00006" "Unknown" "" "corneal opacification; glaucoma, infantile" "" "" "" "" "" "" "" "" "" "" ""
"0000038622" "00198" "00052029" "00006" "Unknown" "" "corneal opacification; glaucoma, infantile" "" "" "" "" "" "" "" "" "" "" ""
"0000038623" "00198" "00052030" "00006" "Unknown" "" "corneal opacification; glaucoma, infantile" "" "" "" "" "" "" "" "" "" "" ""
"0000038624" "04196" "00052031" "00006" "Unknown" "" "glaucoma, congenital, primary" "" "" "" "" "" "" "" "" "" "" ""
"0000038632" "01814" "00051844" "00006" "Isolated (sporadic)" "" "early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea" "" "" "" "" "" "" "" "" "" "" ""
"0000038633" "01814" "00051846" "00006" "Isolated (sporadic)" "" "early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea" "" "" "" "" "" "" "" "" "" "" ""
"0000038634" "01814" "00051841" "00006" "Isolated (sporadic)" "" "early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea" "" "" "" "" "" "" "" "" "" "" ""
"0000038635" "01814" "00051871" "00006" "Isolated (sporadic)" "" "early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea" "" "" "" "" "" "" "" "" "" "" ""
"0000038636" "01814" "00051843" "00006" "Isolated (sporadic)" "" "early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea" "" "" "" "" "" "" "" "" "" "" ""
"0000038637" "01814" "00051837" "00006" "Isolated (sporadic)" "" "early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea" "" "" "" "" "" "" "" "" "" "" ""
"0000038638" "01814" "00051875" "00006" "Isolated (sporadic)" "" "early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea" "" "" "" "" "" "" "" "" "" "" ""
"0000038639" "01814" "00051842" "00006" "Isolated (sporadic)" "" "early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea" "" "" "" "" "" "" "" "" "" "" ""
"0000038640" "01814" "00051838" "00006" "Isolated (sporadic)" "" "early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea" "" "" "" "" "" "" "" "" "" "" ""
"0000038641" "01814" "00051839" "00006" "Isolated (sporadic)" "" "early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea" "" "" "" "" "" "" "" "" "" "" ""
"0000041555" "02487" "00054893" "01239" "Familial, autosomal recessive" "" "Peters anomaly, congenital glaucoma; syndromic" "" "" "" "" "" "" "" "" "" "" ""
"0000041556" "02487" "00054894" "01239" "Familial, autosomal recessive" "" "Peters anomaly, congenital glaucoma; Syndromic" "" "" "" "" "" "" "" "" "" "" ""
"0000045730" "04267" "00054892" "01239" "Isolated (sporadic)" "" "congenital glaucoma, nephrotic syndrome, developmental delay, short stature, feeding difficulties" "" "" "" "" "" "" "" "" "" "" ""
"0000046696" "00356" "00060206" "00245" "Familial, autosomal dominant" "" "coloboma, iris/fundal; microphthalmia" "" "" "" "" "" "" "" "" "" "" ""
"0000046697" "00356" "00060207" "00245" "Familial, autosomal dominant" "" "colobomas, iris/fundal; microphthalmia" "" "" "" "" "" "" "" "" "" "" ""
"0000061317" "01814" "00081683" "00006" "Familial, autosomal recessive" "45y" "increased intraocular pressure (HP:0007906) OD/OS 52/44, cup to disc ratio no view/no view, visual acuity no light perception/light perception, increased corneal diameter (HP:0000485), corneal edema (HP:0012040), corneal haze, spheroidal degeneration (HP:0007705)" "" "" "" "" "" "" "" "" "" "" ""
"0000061318" "01814" "00081684" "00006" "Familial, autosomal recessive" "4y" "increased intraocular pressure (HP:0007906) OD/OS 16/16; cup to disc ratio 0.6/0.4; visual acuity light perception/light perception; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557); bilateral myopic fundus" "" "" "" "" "" "" "" "" "" "" ""
"0000061319" "01814" "00081685" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000061320" "01814" "00081686" "00006" "Familial, autosomal recessive" "2y" "increased intraocular pressure (HP:0007906) OD/OS 40/32; cup to disc ratio 0.7/0.4; visual acuity light perception/hand movement; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557); corneal opacity (HP:0007957)" "" "" "" "" "" "" "" "" "" "" ""
"0000061321" "01814" "00081687" "00006" "Familial, autosomal recessive" "12y" "increased intraocular pressure (HP:0007906) OD/OS 26/20; cup to disc ratio no view/no view; visual acuity hand movement/hand movement; corneal diameter lateral >14mm; bilateral corneal opacity (HP:0007957); vascularization" "" "" "" "" "" "" "" "" "" "" ""
"0000061322" "01814" "00081688" "00006" "Familial, autosomal recessive" "14y" "visual acuity light perception/light perception; ; corneal opacity (HP:0007957)" "" "" "" "" "" "" "" "" "" "" ""
"0000061323" "01814" "00081689" "00006" "Familial, autosomal recessive" "2y" "increased intraocular pressure (HP:0007906) OD/OS 44/30; cup to disc ratio 0.8/no view; visual acuity light perception/light perception; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557); bilateral megalocornea (HP:0000485)" "" "" "" "" "" "" "" "" "" "" ""
"0000061324" "01814" "00081690" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000061325" "01814" "00081691" "00006" "Familial, autosomal recessive" "2y" "increased intraocular pressure (HP:0007906) OD/OS 30/26; cup to disc ratio 0.8/0.6; visual acuity light perception/light perception; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557); bilateral corneal opacity (HP:0007957)" "" "" "" "" "" "" "" "" "" "" ""
"0000061326" "01814" "00081692" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000061327" "01814" "00081693" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000061328" "01814" "00081694" "00006" "Familial, autosomal recessive" "3y" "increased intraocular pressure (HP:0007906) OD/OS ?/38; visual acuity light perception/light perception; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557); megalocornea (HP:0000485)" "" "" "" "" "" "" "" "" "" "" ""
"0000061329" "01814" "00081695" "00006" "Familial, autosomal recessive" "3y" "increased intraocular pressure (HP:0007906) OD/OS 22/20; cup to disc ratio no view/no view; visual acuity light perception/light perception; corneal diameter 13.0/14.0; bilateral buphthalmos (HP:0000557); bilateral corneal opacity (HP:0007957)" "" "" "" "" "" "" "" "" "" "" ""
"0000061330" "01814" "00081696" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000061331" "01814" "00081697" "00006" "Familial, autosomal recessive" "10y" "increased intraocular pressure (HP:0007906) OD/OS 28/28; cup to disc ratio 1.0/1.0; visual acuity /36/4/12; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557); bilateral megalocornea (HP:0000485)" "" "" "" "" "" "" "" "" "" "" ""
"0000061332" "01814" "00081698" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000061333" "01814" "00081699" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000061334" "01814" "00081700" "00006" "Familial, autosomal recessive" "13y" "increased intraocular pressure (HP:0007906) OD/OS 19/22; cup to disc ratio 0.9/0.9; visual acuity counting fingers/counting fingers; increased corneal diameter (HP:0000485); bilateral buphthalmos (HP:0000557)" "" "" "" "" "" "" "" "" "" "" ""
"0000061335" "01814" "00081701" "00006" "Familial, autosomal recessive" "14y" "increased intraocular pressure (HP:0007906) OD/OS 38/?; cup to disc ratio no view/no view; visual acuity hand movement/no light perception; increased corneal diameter (HP:0000485); right buphthalmos (HP:0000557); left phthisical eye" "" "" "" "" "" "" "" "" "" "" ""
"0000061336" "01814" "00081702" "00006" "Familial, autosomal recessive" "12y" "increased intraocular pressure (HP:0007906) OD/OS 53/?; cup to disc ratio 0.7/no view; visual acuity hand 6/60/no light perception; increased corneal diameter (HP:0000485); right megalocornea (HP:0000485); right corneal haze" "" "" "" "" "" "" "" "" "" "" ""
"0000061337" "01814" "00081703" "00006" "Familial, autosomal recessive" "12y" "visual acuity light perception/light perception; buphthalmos (HP:0000557); corneal opacity (HP:0007957)" "" "" "" "" "" "" "" "" "" "" ""
"0000061338" "01814" "00081704" "00006" "Familial, autosomal recessive" "10y" "visual acuity no light perception/no light perception; corneal opacity (HP:0007957)" "" "" "" "" "" "" "" "" "" "" ""
"0000061339" "01814" "00081705" "00006" "Familial, autosomal recessive" "4y" "buphthalmos (HP:0000557); corneal opacity (HP:0007957)" "" "" "" "" "" "" "" "" "" "" ""
"0000155407" "04196" "00207596" "01244" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000156183" "00198" "00035475" "01164" "Unknown" "" "congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000223271" "00198" "00295753" "01164" "Unknown" "" "Congenital glaucoma (HP:0001087); Abnormal eye physiology (HP:0012373)" "" "" "" "" "" "" "" "" "" "" ""
"0000223814" "00198" "00296400" "01164" "Unknown" "" "Abnormal eye physiology (HP:0012373); Glaucoma (HP:0000501)" "" "" "" "" "" "" "" "" "" "" ""
"0000224250" "00198" "00296853" "01164" "Unknown" "" "Congenital glaucoma (HP:0001087)" "" "" "" "" "" "" "" "" "" "" ""
"0000249936" "04214" "00331744" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249937" "04214" "00331745" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma, anterior segment dysgenesis" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249938" "04214" "00331746" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma, corneal ectasia" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249939" "04214" "00331747" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249940" "04214" "00331748" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249941" "04214" "00331749" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249942" "04214" "00331750" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249943" "04214" "00331751" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249944" "04214" "00331752" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249945" "04214" "00331753" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma, anterior segment dysgenesis" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249946" "04214" "00331754" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249947" "04214" "00331755" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249948" "04214" "00331756" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249949" "04214" "00331757" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249950" "04214" "00331758" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249951" "04214" "00331759" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249952" "04214" "00331760" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249953" "04214" "00331761" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249954" "04214" "00331762" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma, unique blue-green opacities in his lenses, not typical for blue-dot cataract, and iris margin abnormality" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249955" "04214" "00331763" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249956" "04214" "00331764" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249957" "04214" "00331765" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249958" "04214" "00331766" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249959" "04214" "00331767" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249960" "04214" "00331768" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249961" "04214" "00331769" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249962" "04214" "00331770" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249963" "04214" "00331771" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249964" "04214" "00331772" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249965" "04214" "00331773" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249966" "04214" "00331774" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249967" "04214" "00331775" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249968" "04214" "00331776" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249969" "04214" "00331777" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma, Homozygous affected Mother has Adult-onset glaucoma (Age40)" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249970" "04214" "00331778" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249971" "04214" "00331779" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249972" "04214" "00331780" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249973" "04214" "00331781" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249974" "04214" "00331782" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249975" "04214" "00331783" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249976" "04214" "00331784" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249977" "04214" "00331785" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249978" "04214" "00331786" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249979" "04214" "00331787" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249980" "04214" "00331788" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249981" "04214" "00331789" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249982" "04214" "00331790" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249983" "04214" "00331791" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249984" "04214" "00331792" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249985" "04214" "00331793" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma, unilateral" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249986" "04214" "00331794" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249987" "04214" "00331795" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249988" "04214" "00331796" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249989" "04214" "00331797" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249990" "04214" "00331798" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249991" "04214" "00331799" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249992" "04214" "00331800" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249993" "04214" "00331801" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249994" "04214" "00331802" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249995" "04214" "00331803" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249996" "04214" "00331804" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249997" "04214" "00331805" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249998" "04214" "00331806" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000249999" "04214" "00331807" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250000" "04214" "00331808" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250001" "04214" "00331809" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250002" "04214" "00331810" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250003" "04214" "00331811" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250004" "04214" "00331812" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250005" "04214" "00331813" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250006" "04214" "00331814" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250007" "04214" "00331815" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250008" "04214" "00331816" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250009" "04214" "00331817" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250010" "04214" "00331818" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250011" "04214" "00331819" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250012" "04214" "00331820" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250013" "04214" "00331821" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250014" "04214" "00331822" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250015" "04214" "00331823" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250016" "04214" "00331824" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250017" "04214" "00331825" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250018" "04214" "00331826" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250019" "04214" "00331827" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma, spina bifida" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250020" "04214" "00331828" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250021" "04214" "00331829" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250022" "04214" "00331830" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250023" "04214" "00331831" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250024" "04214" "00331832" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma, ectropion uveae and partial aniridia" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250025" "04214" "00331833" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250026" "04214" "00331834" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma, unilateral" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250027" "04214" "00331835" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250028" "04214" "00331836" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250029" "04214" "00331837" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250030" "04214" "00331838" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250031" "04214" "00331839" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250032" "04214" "00331840" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250033" "04214" "00331841" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma, brittle cornea" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250034" "04214" "00331842" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma, profound secondary microcephalus and unilateral congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250035" "04214" "00331843" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma, anterior segment dysgenesis, high myopia and spontaneous unilateral retinal detachment" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250036" "04214" "00331844" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250037" "04214" "00331845" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250038" "04214" "00331846" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250039" "04214" "00331847" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250040" "04214" "00331848" "00000" "Unknown" "" "primary congenital glaucoma, lens subluxation" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250041" "04214" "00331849" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250051" "04214" "00331859" "00000" "Unknown" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250052" "04214" "00331860" "00000" "Unknown" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000250053" "04214" "00331861" "00000" "Unknown" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" ""
"0000275937" "01814" "00382095" "00000" "Familial, autosomal recessive" "" "anterior segment developmental anomalies including glaucoma; MIM, 231300 or 617315" "" "" "" "" "" "" "" "" "" "MIM, 231300 or 617315" ""
"0000275938" "01814" "00382096" "00000" "Familial, autosomal recessive" "" "anterior segment developmental anomalies including glaucoma; MIM, 231300 or 617315" "" "" "" "" "" "" "" "" "" "MIM, 231300 or 617315" ""
"0000275939" "01814" "00382097" "00000" "Familial, autosomal recessive" "" "anterior segment developmental anomalies including glaucoma; MIM, 231300 or 617315" "" "" "" "" "" "" "" "" "" "MIM, 231300 or 617315" ""
"0000275940" "01814" "00382098" "00000" "Familial, autosomal recessive" "" "anterior segment developmental anomalies including glaucoma; MIM, 231300 or 617315" "" "" "" "" "" "" "" "" "" "MIM, 231300 or 617315" ""
"0000275941" "01814" "00382099" "00000" "Familial, autosomal recessive" "" "anterior segment developmental anomalies including glaucoma; MIM, 231300 or 617315" "" "" "" "" "" "" "" "" "" "MIM, 231300 or 617315" ""
"0000275942" "01814" "00382100" "00000" "Familial, autosomal recessive" "" "anterior segment developmental anomalies including glaucoma; MIM, 231300 or 617315" "" "" "" "" "" "" "" "" "" "MIM, 231300 or 617315" ""
"0000275943" "01814" "00382101" "00000" "Familial, autosomal recessive" "" "anterior segment developmental anomalies including glaucoma; MIM, 231300 or 617315" "" "" "" "" "" "" "" "" "" "MIM, 231300 or 617315" ""
"0000275944" "01814" "00382102" "00000" "Familial, autosomal recessive" "" "anterior segment developmental anomalies including glaucoma; MIM, 231300 or 617315" "" "" "" "" "" "" "" "" "" "MIM, 231300 or 617315" ""
"0000275945" "01814" "00382103" "00000" "Familial, autosomal recessive" "" "anterior segment developmental anomalies including glaucoma; MIM, 231300 or 617315" "" "" "" "" "" "" "" "" "" "MIM, 231300 or 617315" ""
"0000275946" "01814" "00382104" "00000" "Familial, autosomal recessive" "" "anterior segment developmental anomalies including glaucoma; MIM, 231300 or 617315" "" "" "" "" "" "" "" "" "" "MIM, 231300 or 617315" ""
"0000275947" "00420" "00382105" "00000" "Familial, autosomal recessive" "" "anterior segment developmental anomalies including glaucoma; MIM, 231300 or 617315" "" "" "" "" "" "" "" "" "" "MIM, 231300 or 617315" ""
"0000278131" "02331" "00384346" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Glaucoma" ""
"0000279279" "04214" "00385484" "00000" "Familial, autosomal recessive" "" "" "<1y" "" "" "" "" "" "" "" "bilateral anterior segment dysgenesis (ASD) including congenital glaucoma" "congenital glaucoma" ""
"0000279294" "04214" "00385499" "00000" "Familial, autosomal recessive" "" "" "4y" "" "" "" "" "" "" "" "bilateral anterior segment dysgenesis (ASD) including congenital glaucoma" "congenital glaucoma" ""
"0000279336" "04214" "00385541" "00000" "Familial, autosomal recessive" "" "" "<1y" "" "" "" "" "" "" "" "bilateral anterior segment dysgenesis (ASD) including congenital glaucoma" "congenital glaucoma" ""
"0000279343" "04214" "00385548" "00000" "Familial, autosomal recessive" "" "" "4y" "" "" "" "" "" "" "" "bilateral anterior segment dysgenesis (ASD) including congenital glaucoma" "congenital glaucoma" ""
"0000300342" "04214" "00408212" "00000" "Unknown" "49y" "maximal intraocular pressure (mm Hg) right/left eye: 38/38; grade of optic disk atrophy according to Jonas ano data Papastathopoulos (normal 0, moderate cupping I, notching of the neuroretinal rim II/III, temporal neuroretinal rim loss IV, complete atrophy V): I/I; optic disk area (mm2) right/left eye:" "" "" "" "" "" "" "" "" "primary open-angle glaucoma" "" ""
"0000324598" "00198" "00434240" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ASGD6" "glaucoma" ""
"0000324599" "00198" "00434241" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ASGD6" "glaucoma" ""
"0000324600" "00198" "00434242" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ASGD6" "glaucoma" ""
"0000324601" "00198" "00434243" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ASGD6" "glaucoma" ""
"0000334123" "00296" "00444873" "00006" "Familial, autosomal dominant" "" "binocular, posterior polar/subcapsular" "" "" "" "" "" "" "" "" "" "cataract" ""
"0000335736" "00296" "00446523" "00006" "Unknown" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" ""
"0000335737" "00296" "00446524" "00006" "Unknown" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" ""
## Screenings ## Do not remove or alter this header ##
## Count = 446
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000035545" "00035475" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000035546" "00035476" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000035547" "00035477" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000035548" "00035478" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000035549" "00035479" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000035550" "00035480" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000035551" "00035481" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000035552" "00035482" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000035553" "00035483" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000051707" "00051759" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051708" "00051760" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051709" "00051761" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051710" "00051762" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051711" "00051763" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051712" "00051764" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051713" "00051765" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051714" "00051766" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051715" "00051767" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051716" "00051768" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051717" "00051769" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051718" "00051770" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051719" "00051771" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051720" "00051772" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051721" "00051773" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051722" "00051774" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051723" "00051775" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051724" "00051776" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051725" "00051777" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051726" "00051778" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051727" "00051779" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051728" "00051780" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051729" "00051781" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051730" "00051782" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051731" "00051783" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051732" "00051784" "1" "01294" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051733" "00051785" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051734" "00051786" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051735" "00051787" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051736" "00051788" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051737" "00051789" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051738" "00051790" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051739" "00051791" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051740" "00051792" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051741" "00051793" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051742" "00051794" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051743" "00051795" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051744" "00051796" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051745" "00051797" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051746" "00051798" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051747" "00051799" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051748" "00051800" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051749" "00051801" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051750" "00051802" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051751" "00051803" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051752" "00051804" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051753" "00051805" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051754" "00051806" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051755" "00051807" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051756" "00051808" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051757" "00051809" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051758" "00051810" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051759" "00051811" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051760" "00051812" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051761" "00051813" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051762" "00051814" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051763" "00051815" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051764" "00051816" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051765" "00051817" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000051766" "00051818" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051767" "00051819" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051768" "00051820" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051769" "00051821" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051770" "00051822" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051771" "00051823" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCR;SEQ" "DNA" "" ""
"0000051772" "00051824" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051773" "00051825" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051774" "00051826" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051775" "00051827" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051776" "00051828" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051777" "00051829" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051778" "00051830" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051779" "00051831" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051780" "00051832" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051781" "00051833" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051782" "00051834" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051783" "00051835" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCRdig" "DNA" "" ""
"0000051784" "00051836" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051785" "00051837" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051786" "00051838" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051787" "00051839" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051788" "00051840" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051789" "00051841" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051790" "00051842" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051791" "00051843" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051792" "00051844" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051793" "00051845" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051794" "00051846" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051795" "00051847" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051796" "00051848" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051797" "00051849" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051798" "00051850" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051800" "00051852" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051801" "00051853" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051802" "00051854" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051803" "00051855" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051804" "00051856" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051806" "00051858" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051807" "00051859" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051808" "00051860" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051809" "00051861" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051812" "00051864" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051813" "00051865" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051815" "00051867" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051816" "00051868" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051818" "00051870" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051819" "00051871" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051820" "00051872" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051821" "00051873" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051822" "00051874" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051823" "00051875" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051824" "00051876" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051825" "00051877" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051826" "00051878" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "PCR;SEQ" "DNA" "" ""
"0000051827" "00051879" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000051828" "00051880" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051829" "00051881" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051830" "00051882" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051831" "00051883" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051832" "00051884" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051833" "00051885" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051834" "00051886" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051835" "00051887" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051836" "00051888" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051837" "00051889" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051838" "00051890" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051839" "00051891" "1" "00006" "00006" "2013-05-20 12:49:57" "" "" "SEQ" "DNA" "" ""
"0000051840" "00051892" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051841" "00051893" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051842" "00051894" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051843" "00051895" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051844" "00051896" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051845" "00051897" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051846" "00051898" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051847" "00051899" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051848" "00051900" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051849" "00051901" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051850" "00051902" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051851" "00051903" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051852" "00051904" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051853" "00051905" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051854" "00051906" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051855" "00051907" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051856" "00051908" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051857" "00051909" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051858" "00051910" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051859" "00051911" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051860" "00051912" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051861" "00051913" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051862" "00051914" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051863" "00051915" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051864" "00051916" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051865" "00051917" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051866" "00051918" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051867" "00051919" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051868" "00051920" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051869" "00051921" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051870" "00051922" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051871" "00051923" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051872" "00051924" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051873" "00051925" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051874" "00051926" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051875" "00051927" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051876" "00051928" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051877" "00051929" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051878" "00051930" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051879" "00051931" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051880" "00051932" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051881" "00051933" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051882" "00051934" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051883" "00051935" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051884" "00051936" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051885" "00051937" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051886" "00051938" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051887" "00051939" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051888" "00051940" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051889" "00051941" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051890" "00051942" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051891" "00051943" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051892" "00051944" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051893" "00051945" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051894" "00051946" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051895" "00051947" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051896" "00051948" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051897" "00051949" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051898" "00051950" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051899" "00051951" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051900" "00051952" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051901" "00051953" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051902" "00051954" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051903" "00051955" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051904" "00051956" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051905" "00051957" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051906" "00051958" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051907" "00051959" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051908" "00051960" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051909" "00051961" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051910" "00051962" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051911" "00051963" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051912" "00051964" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051913" "00051965" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051914" "00051966" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051915" "00051967" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051916" "00051968" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051917" "00051969" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051918" "00051970" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051919" "00051971" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051920" "00051972" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051921" "00051973" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051922" "00051974" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051923" "00051975" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051924" "00051976" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051925" "00051977" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051926" "00051978" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051927" "00051979" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051928" "00051980" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051929" "00051981" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051930" "00051982" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051931" "00051983" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051932" "00051984" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051933" "00051985" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051934" "00051986" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051935" "00051987" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051936" "00051988" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051937" "00051989" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051938" "00051990" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051939" "00051991" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051940" "00051992" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051941" "00051993" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051942" "00051994" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051943" "00051995" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051944" "00051996" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051945" "00051997" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051946" "00051998" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051947" "00051999" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051948" "00052000" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051949" "00052001" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051950" "00052002" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051951" "00052003" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051952" "00052004" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051953" "00052005" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051954" "00052006" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051955" "00052007" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051956" "00052008" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051957" "00052009" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051958" "00052010" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051959" "00052011" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051960" "00052012" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051961" "00052013" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051962" "00052014" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051963" "00052015" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051964" "00052016" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051965" "00052017" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051966" "00052018" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051967" "00052019" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051968" "00052020" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051969" "00052021" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051970" "00052022" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051971" "00052023" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051972" "00052024" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051973" "00052025" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051974" "00052026" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051975" "00052027" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051976" "00052028" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051977" "00052029" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051978" "00052030" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000051979" "00052031" "1" "00006" "00006" "2013-05-20 12:49:58" "" "" "SEQ" "DNA" "" ""
"0000054844" "00054892" "1" "01239" "01239" "2015-12-01 17:40:29" "" "" "SEQ" "DNA" "" ""
"0000054845" "00054893" "1" "01239" "01239" "2015-12-01 18:16:04" "" "" "SEQ" "DNA" "" ""
"0000054846" "00054894" "1" "01239" "01239" "2015-12-01 18:32:58" "" "" "SEQ" "DNA" "" ""
"0000060193" "00060206" "1" "00245" "00245" "2013-09-04 09:52:33" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000060194" "00060207" "1" "00245" "00245" "2013-09-09 02:54:02" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000081813" "00081683" "1" "00006" "00006" "2016-10-18 22:12:46" "" "" "SEQ" "DNA" "" ""
"0000081814" "00081684" "1" "00006" "00006" "2016-10-18 23:25:02" "" "" "SEQ" "DNA" "" ""
"0000081815" "00081685" "1" "00006" "00006" "2016-10-18 23:25:02" "" "" "SEQ" "DNA" "" ""
"0000081816" "00081686" "1" "00006" "00006" "2016-10-18 23:25:02" "" "" "SEQ" "DNA" "" ""
"0000081817" "00081687" "1" "00006" "00006" "2016-10-18 23:25:02" "" "" "SEQ" "DNA" "" ""
"0000081818" "00081688" "1" "00006" "00006" "2016-10-18 23:25:02" "" "" "SEQ" "DNA" "" ""
"0000081819" "00081689" "1" "00006" "00006" "2016-10-18 23:25:02" "" "" "SEQ" "DNA" "" ""
"0000081820" "00081690" "1" "00006" "00006" "2016-10-18 23:25:02" "" "" "SEQ" "DNA" "" ""
"0000081821" "00081691" "1" "00006" "00006" "2016-10-18 23:25:02" "" "" "SEQ" "DNA" "" ""
"0000081822" "00081692" "1" "00006" "00006" "2016-10-18 23:25:02" "" "" "SEQ" "DNA" "" ""
"0000081823" "00081693" "1" "00006" "00006" "2016-10-18 23:25:02" "" "" "SEQ" "DNA" "" ""
"0000081824" "00081694" "1" "00006" "00006" "2016-10-18 23:25:02" "" "" "SEQ" "DNA" "" ""
"0000081825" "00081695" "1" "00006" "00006" "2016-10-18 23:25:02" "" "" "SEQ" "DNA" "" ""
"0000081826" "00081696" "1" "00006" "00006" "2016-10-18 23:25:02" "" "" "SEQ" "DNA" "" ""
"0000081827" "00081697" "1" "00006" "00006" "2016-10-18 23:25:02" "" "" "SEQ" "DNA" "" ""
"0000081828" "00081698" "1" "00006" "00006" "2016-10-18 23:25:02" "" "" "SEQ" "DNA" "" ""
"0000081829" "00081699" "1" "00006" "00006" "2016-10-18 23:25:02" "" "" "SEQ" "DNA" "" ""
"0000081830" "00081700" "1" "00006" "00006" "2016-10-18 23:25:02" "" "" "SEQ" "DNA" "" ""
"0000081831" "00081701" "1" "00006" "00006" "2016-10-18 23:25:02" "" "" "SEQ" "DNA" "" ""
"0000081832" "00081702" "1" "00006" "00006" "2016-10-18 23:25:02" "" "" "SEQ" "DNA" "" ""
"0000081833" "00081703" "1" "00006" "00006" "2016-10-18 23:25:02" "" "" "SEQ" "DNA" "" ""
"0000081834" "00081704" "1" "00006" "00006" "2016-10-18 23:25:02" "" "" "SEQ" "DNA" "" ""
"0000081835" "00081705" "1" "00006" "00006" "2016-10-18 23:25:02" "" "" "SEQ" "DNA" "" ""
"0000208633" "00207596" "1" "01244" "01244" "2018-11-26 13:35:17" "" "" "SEQ-NG-I" "DNA" "Peripheral blood" ""
"0000293900" "00292732" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000293901" "00292733" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000293902" "00292734" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000293903" "00292735" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000296926" "00295753" "1" "01164" "01164" "2020-03-26 12:30:15" "" "" "SEQ-NG-S" "DNA" "" ""
"0000297511" "00296400" "1" "01164" "01164" "2020-04-06 09:48:21" "" "" "SEQ-NG-S" "DNA" "" ""
"0000297963" "00296853" "1" "01164" "01164" "2020-04-14 14:15:01" "" "" "SEQ-NG-S" "DNA" "" ""
"0000305951" "00304822" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000332963" "00331744" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332964" "00331745" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332965" "00331746" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332966" "00331747" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332967" "00331748" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332968" "00331749" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332969" "00331750" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332970" "00331751" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332971" "00331752" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332972" "00331753" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332973" "00331754" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332974" "00331755" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332975" "00331756" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332976" "00331757" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332977" "00331758" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332978" "00331759" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332979" "00331760" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332980" "00331761" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332981" "00331762" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332982" "00331763" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332983" "00331764" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332984" "00331765" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332985" "00331766" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332986" "00331767" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332987" "00331768" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332988" "00331769" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332989" "00331770" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332990" "00331771" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332991" "00331772" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332992" "00331773" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332993" "00331774" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332994" "00331775" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332995" "00331776" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332996" "00331777" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332997" "00331778" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332998" "00331779" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000332999" "00331780" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333000" "00331781" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333001" "00331782" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333002" "00331783" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333003" "00331784" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333004" "00331785" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333005" "00331786" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333006" "00331787" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333007" "00331788" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333008" "00331789" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333009" "00331790" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333010" "00331791" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333011" "00331792" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333012" "00331793" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333013" "00331794" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333014" "00331795" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333015" "00331796" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333016" "00331797" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333017" "00331798" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333018" "00331799" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333019" "00331800" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333020" "00331801" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333021" "00331802" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333022" "00331803" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333023" "00331804" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333024" "00331805" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333025" "00331806" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333026" "00331807" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333027" "00331808" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333028" "00331809" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333029" "00331810" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333030" "00331811" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333031" "00331812" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333032" "00331813" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333033" "00331814" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333034" "00331815" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333035" "00331816" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333036" "00331817" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333037" "00331818" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333038" "00331819" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333039" "00331820" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333040" "00331821" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333041" "00331822" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333042" "00331823" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333043" "00331824" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333044" "00331825" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333045" "00331826" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333046" "00331827" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333047" "00331828" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333048" "00331829" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333049" "00331830" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333050" "00331831" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333051" "00331832" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333052" "00331833" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333053" "00331834" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333054" "00331835" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333055" "00331836" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333056" "00331837" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333057" "00331838" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333058" "00331839" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333059" "00331840" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333060" "00331841" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333061" "00331842" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333062" "00331843" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333063" "00331844" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333064" "00331845" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333065" "00331846" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333066" "00331847" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333067" "00331848" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333068" "00331849" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333078" "00331859" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333079" "00331860" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000333080" "00331861" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" ""
"0000383311" "00382095" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383312" "00382096" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383313" "00382097" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000383314" "00382098" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383315" "00382099" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383316" "00382100" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383317" "00382101" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383318" "00382102" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383319" "00382103" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383320" "00382104" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383321" "00382105" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" ""
"0000385571" "00384346" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000386713" "00385484" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "45 genes panel tested"
"0000386728" "00385499" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "45 genes panel tested"
"0000386770" "00385541" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "45 genes panel tested"
"0000386777" "00385548" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "45 genes panel tested"
"0000409467" "00408212" "1" "00000" "03840" "2022-04-17 20:11:19" "" "" "SEQ" "DNA" "" ""
"0000435708" "00434240" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000435709" "00434241" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000435710" "00434242" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000435711" "00434243" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000446442" "00444873" "1" "00006" "00006" "2023-12-28 14:50:54" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel"
"0000448096" "00446523" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel"
"0000448097" "00446524" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 430
"{{screeningid}}" "{{geneid}}"
"0000035545" "CYP1B1"
"0000035546" "CYP1B1"
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"0000051828" "CYP1B1"
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"0000051840" "CYP1B1"
"0000051841" "CYP1B1"
"0000051842" "CYP1B1"
"0000051843" "CYP1B1"
"0000051844" "CYP1B1"
"0000051845" "CYP1B1"
"0000051846" "CYP1B1"
"0000051847" "CYP1B1"
"0000051848" "CYP1B1"
"0000051849" "CYP1B1"
"0000051850" "CYP1B1"
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"0000051852" "CYP1B1"
"0000051853" "CYP1B1"
"0000051854" "CYP1B1"
"0000051855" "CYP1B1"
"0000051856" "CYP1B1"
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"0000051858" "CYP1B1"
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"0000051860" "CYP1B1"
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"0000051864" "CYP1B1"
"0000051865" "CYP1B1"
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"0000051867" "CYP1B1"
"0000051868" "CYP1B1"
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"0000051874" "CYP1B1"
"0000051875" "CYP1B1"
"0000051876" "CYP1B1"
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"0000051878" "CYP1B1"
"0000051879" "CYP1B1"
"0000051880" "CYP1B1"
"0000051881" "CYP1B1"
"0000051882" "CYP1B1"
"0000051883" "CYP1B1"
"0000051884" "CYP1B1"
"0000051885" "CYP1B1"
"0000051886" "CYP1B1"
"0000051887" "CYP1B1"
"0000051888" "CYP1B1"
"0000051889" "CYP1B1"
"0000051890" "CYP1B1"
"0000051891" "CYP1B1"
"0000051892" "CYP1B1"
"0000051893" "CYP1B1"
"0000051894" "CYP1B1"
"0000051895" "CYP1B1"
"0000051896" "CYP1B1"
"0000051897" "CYP1B1"
"0000051898" "CYP1B1"
"0000051899" "CYP1B1"
"0000051900" "CYP1B1"
"0000051901" "CYP1B1"
"0000051902" "CYP1B1"
"0000051903" "CYP1B1"
"0000051904" "CYP1B1"
"0000051905" "CYP1B1"
"0000051906" "CYP1B1"
"0000051907" "CYP1B1"
"0000051908" "CYP1B1"
"0000051909" "CYP1B1"
"0000051910" "CYP1B1"
"0000051911" "CYP1B1"
"0000051912" "CYP1B1"
"0000051913" "CYP1B1"
"0000051914" "CYP1B1"
"0000051915" "CYP1B1"
"0000051916" "CYP1B1"
"0000051917" "CYP1B1"
"0000051918" "CYP1B1"
"0000051919" "CYP1B1"
"0000051920" "CYP1B1"
"0000051921" "CYP1B1"
"0000051922" "CYP1B1"
"0000051923" "CYP1B1"
"0000051924" "CYP1B1"
"0000051925" "CYP1B1"
"0000051926" "CYP1B1"
"0000051927" "CYP1B1"
"0000051928" "CYP1B1"
"0000051929" "CYP1B1"
"0000051930" "CYP1B1"
"0000051931" "CYP1B1"
"0000051932" "CYP1B1"
"0000051933" "CYP1B1"
"0000051934" "CYP1B1"
"0000051935" "CYP1B1"
"0000051936" "CYP1B1"
"0000051937" "CYP1B1"
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"0000051939" "CYP1B1"
"0000051940" "CYP1B1"
"0000051941" "CYP1B1"
"0000051942" "CYP1B1"
"0000051943" "CYP1B1"
"0000051944" "CYP1B1"
"0000051945" "CYP1B1"
"0000051946" "CYP1B1"
"0000051947" "CYP1B1"
"0000051948" "CYP1B1"
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"0000051950" "CYP1B1"
"0000051951" "CYP1B1"
"0000051952" "CYP1B1"
"0000051953" "CYP1B1"
"0000051954" "CYP1B1"
"0000051955" "CYP1B1"
"0000051956" "CYP1B1"
"0000051957" "CYP1B1"
"0000051958" "CYP1B1"
"0000051959" "CYP1B1"
"0000051960" "CYP1B1"
"0000051961" "CYP1B1"
"0000051962" "CYP1B1"
"0000051963" "CYP1B1"
"0000051964" "CYP1B1"
"0000051965" "CYP1B1"
"0000051966" "CYP1B1"
"0000051967" "CYP1B1"
"0000051968" "CYP1B1"
"0000051969" "CYP1B1"
"0000051970" "CYP1B1"
"0000051971" "CYP1B1"
"0000051972" "CYP1B1"
"0000051973" "CYP1B1"
"0000051974" "CYP1B1"
"0000051975" "CYP1B1"
"0000051976" "CYP1B1"
"0000051977" "CYP1B1"
"0000051978" "CYP1B1"
"0000051979" "CYP1B1"
"0000054844" "CYP1B1"
"0000054845" "CYP1B1"
"0000054846" "CYP1B1"
"0000060193" "BFSP1"
"0000060194" "BFSP1"
"0000081813" "CYP1B1"
"0000081814" "CYP1B1"
"0000081815" "CYP1B1"
"0000081816" "CYP1B1"
"0000081817" "CYP1B1"
"0000081818" "CYP1B1"
"0000081819" "CYP1B1"
"0000081820" "CYP1B1"
"0000081821" "CYP1B1"
"0000081822" "CYP1B1"
"0000081823" "CYP1B1"
"0000081824" "CYP1B1"
"0000081825" "CYP1B1"
"0000081826" "CYP1B1"
"0000081827" "CYP1B1"
"0000081828" "CYP1B1"
"0000081829" "CYP1B1"
"0000081830" "CYP1B1"
"0000081831" "CYP1B1"
"0000081832" "CYP1B1"
"0000081833" "CYP1B1"
"0000081834" "CYP1B1"
"0000081835" "CYP1B1"
"0000332963" "CYP1B1"
"0000332964" "CYP1B1"
"0000332965" "CYP1B1"
"0000332966" "CYP1B1"
"0000332967" "CYP1B1"
"0000332968" "CYP1B1"
"0000332969" "CYP1B1"
"0000332970" "CYP1B1"
"0000332971" "CYP1B1"
"0000332972" "CYP1B1"
"0000332973" "CYP1B1"
"0000332974" "CYP1B1"
"0000332975" "CYP1B1"
"0000332976" "CYP1B1"
"0000332977" "CYP1B1"
"0000332978" "CYP1B1"
"0000332979" "CYP1B1"
"0000332980" "CYP1B1"
"0000332981" "CYP1B1"
"0000332982" "CYP1B1"
"0000332983" "CYP1B1"
"0000332984" "CYP1B1"
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"0000332987" "CYP1B1"
"0000332988" "CYP1B1"
"0000332989" "CYP1B1"
"0000332990" "CYP1B1"
"0000332991" "CYP1B1"
"0000332992" "CYP1B1"
"0000332993" "CYP1B1"
"0000332994" "CYP1B1"
"0000332995" "CYP1B1"
"0000332996" "CYP1B1"
"0000332997" "CYP1B1"
"0000332998" "CYP1B1"
"0000332999" "CYP1B1"
"0000333000" "CYP1B1"
"0000333001" "CYP1B1"
"0000333002" "CYP1B1"
"0000333003" "CYP1B1"
"0000333004" "CYP1B1"
"0000333005" "CYP1B1"
"0000333006" "CYP1B1"
"0000333007" "CYP1B1"
"0000333008" "CYP1B1"
"0000333009" "CYP1B1"
"0000333010" "CYP1B1"
"0000333011" "CYP1B1"
"0000333012" "CYP1B1"
"0000333013" "CYP1B1"
"0000333014" "CYP1B1"
"0000333015" "CYP1B1"
"0000333016" "CYP1B1"
"0000333017" "CYP1B1"
"0000333018" "CYP1B1"
"0000333019" "CYP1B1"
"0000333020" "CYP1B1"
"0000333021" "CYP1B1"
"0000333022" "CYP1B1"
"0000333023" "CYP1B1"
"0000333024" "CYP1B1"
"0000333025" "CYP1B1"
"0000333026" "CYP1B1"
"0000333027" "CYP1B1"
"0000333028" "CYP1B1"
"0000333029" "CYP1B1"
"0000333030" "CYP1B1"
"0000333031" "CYP1B1"
"0000333032" "CYP1B1"
"0000333033" "CYP1B1"
"0000333034" "CYP1B1"
"0000333035" "CYP1B1"
"0000333036" "CYP1B1"
"0000333037" "CYP1B1"
"0000333038" "CYP1B1"
"0000333039" "CYP1B1"
"0000333040" "CYP1B1"
"0000333041" "CYP1B1"
"0000333042" "CYP1B1"
"0000333043" "CYP1B1"
"0000333044" "CYP1B1"
"0000333045" "CYP1B1"
"0000333046" "CYP1B1"
"0000333047" "CYP1B1"
"0000333048" "CYP1B1"
"0000333049" "CYP1B1"
"0000333050" "CYP1B1"
"0000333051" "CYP1B1"
"0000333052" "CYP1B1"
"0000333053" "CYP1B1"
"0000333054" "CYP1B1"
"0000333055" "CYP1B1"
"0000333056" "CYP1B1"
"0000333057" "CYP1B1"
"0000333058" "CYP1B1"
"0000333059" "CYP1B1"
"0000333060" "CYP1B1"
"0000333061" "CYP1B1"
"0000333062" "CYP1B1"
"0000333063" "CYP1B1"
"0000333064" "CYP1B1"
"0000333065" "CYP1B1"
"0000333066" "CYP1B1"
"0000333067" "CYP1B1"
"0000333068" "CYP1B1"
"0000333078" "CYP1B1"
"0000333079" "CYP1B1"
"0000333080" "CYP1B1"
"0000383311" "CYP1B1"
"0000383312" "CYP1B1"
"0000383313" "CYP1B1"
"0000383314" "CYP1B1"
"0000383315" "CYP1B1"
"0000383316" "CYP1B1"
"0000383317" "CYP1B1"
"0000383318" "CYP1B1"
"0000383319" "CYP1B1"
"0000383320" "CYP1B1"
"0000383321" "CYP1B1"
"0000385571" "CYP1B1"
"0000386713" "CYP1B1"
"0000386728" "CYP1B1"
"0000386770" "CYP1B1"
"0000386777" "CYP1B1"
"0000409467" "RPGRIP1"
## 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 = 646
"{{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}}"
"0000062664" "1" "90" "2" "38298178" "38298178" "subst" "3.24857E-5" "01164" "CYP1B1_000099" "g.38298178A>C" "" "" "" "" "" "Germline" "" "rs78315" "0" "" "" "g.38071035A>C" "" "pathogenic" ""
"0000062665" "1" "11" "2" "38298203" "38298203" "" "0" "01164" "CYP1B1_000000" "g.38298203G=" "" "" "" "" "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" "" "rs1056836" "0" "" "" "" "" "benign" ""
"0000062666" "1" "10" "2" "38303408" "38303408" "dup" "0" "01164" "CYP1B1_000098" "g.38303408dup" "" "" "" "dupC" "Alamut:(c.-97dupC) (NCBI c.-98_-96insC)" "Germline" "" "rs11379588" "0" "" "" "g.38076266dup" "" "benign" ""
"0000062667" "1" "99" "2" "38298421" "38298433" "del" "0.000228025" "01164" "CYP1B1_000017" "g.38298421_38298433del" "" "" "" "" "" "Germline" "" "rs73464" "0" "" "" "g.38071278_38071290del" "" "pathogenic" ""
"0000062668" "1" "99" "2" "38302361" "38302361" "subst" "0.000166406" "01164" "CYP1B1_001014" "g.38302361C>T" "" "" "" "" "" "Germline" "" "rs73464" "0" "" "" "g.38075218C>T" "" "pathogenic" ""
"0000062669" "1" "11" "2" "38298139" "38298139" "subst" "0.153766" "01164" "CYP1B1_000004" "g.38298139T>C" "" "" "" "" "" "Germline" "" "rs1800440" "0" "" "" "g.38070996T>C" "" "benign" ""
"0000062670" "1" "10" "2" "38302177" "38302177" "subst" "0.319463" "01164" "CYP1B1_001001" "g.38302177C>A" "" "" "" "" "" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "benign" ""
"0000062671" "1" "10" "2" "38302390" "38302390" "subst" "0.312614" "01164" "CYP1B1_000002" "g.38302390G>C" "" "" "" "" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "benign" ""
"0000062672" "1" "10" "2" "38298150" "38298150" "subst" "0.634263" "01164" "CYP1B1_001002" "g.38298150A>G" "" "" "" "" "" "Germline" "" "rs1056837" "0" "" "" "g.38071007A>G" "" "benign" ""
"0000080609" "1" "90" "2" "38298139" "38298139" "subst" "0.153766" "00006" "CYP1B1_000004" "g.38298139T>C" "" "{PMID:Shimada 1999:10426814}" "" "" "" "Unknown" "yes" "rs1800440" "0" "" "" "g.38070996T>C" "" "pathogenic" ""
"0000080610" "1" "90" "2" "38298223" "38298223" "dup" "0" "00006" "CYP1B1_000001" "g.38298223dup" "" "{PMID:Kakiuchi 1999:10511040}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38071080dup" "" "pathogenic" ""
"0000080611" "1" "90" "2" "38302302" "38302302" "subst" "0" "00006" "CYP1B1_001007" "g.38302302A>G" "" "{PMID:Bejjani 2000:10655546}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075159A>G" "" "pathogenic" ""
"0000080612" "1" "90" "2" "38302094" "38302103" "del" "0" "00006" "CYP1B1_001008" "g.38302094_38302103del" "" "{PMID:Bejjani 2000:10655546}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074951_38074960del" "" "pathogenic" ""
"0000080613" "1" "90" "2" "38301727" "38301735" "del" "0" "00006" "CYP1B1_001009" "g.38301727_38301735del" "" "{PMID:Bejjani 2000:10655546}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074584_38074592del" "" "pathogenic" ""
"0000080614" "1" "90" "2" "38298394" "38298394" "subst" "0.00595164" "00006" "CYP1B1_001010" "g.38298394C>T" "" "{PMID:Bejjani 2000:10655546}" "" "" "" "Unknown" "yes" "rs28936414" "0" "" "" "g.38071251C>T" "" "pathogenic" ""
"0000080615" "1" "90" "2" "38298329" "38298329" "subst" "1.63747E-5" "00006" "CYP1B1_001011" "g.38298329G>T" "" "{PMID:Bejjani 2000:10655546}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38071186G>T" "" "pathogenic" ""
"0000080616" "1" "90" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "" "{PMID:Watanabe 2000:10739169}" "" "" "" "Unknown" "yes" "rs1056827" "0" "" "" "g.38075034C>A" "" "pathogenic" ""
"0000080617" "1" "90" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "" "{PMID:Hanna 2000:10910054}" "" "" "" "Unknown" "yes" "rs10012" "0" "" "" "g.38075247G>C" "" "pathogenic" ""
"0000080618" "1" "90" "2" "38301562" "38301563" "dup" "0" "00006" "CYP1B1_001012" "g.38301562_38301563dup" "" "{PMID:Ohtake 2000:11184479}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074419_38074420dup" "" "pathogenic" ""
"0000080619" "1" "90" "2" "38298407" "38298407" "subst" "1.65766E-5" "00006" "CYP1B1_001013" "g.38298407C>T" "" "{PMID:Ohtake 2000:11184479}" "" "" "" "Unknown" "yes" "rs72549379" "0" "" "" "g.38071264C>T" "" "pathogenic" ""
"0000080620" "1" "90" "2" "38302361" "38302361" "subst" "0.000166406" "00006" "CYP1B1_001014" "g.38302361C>T" "" "{PMID:Vincent 2001:11403040}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075218C>T" "" "pathogenic" ""
"0000080621" "1" "90" "2" "38302530" "38302530" "subst" "0" "00006" "CYP1B1_001015" "g.38302530A>G" "" "{PMID:Vincent 2001:11403040}" "" "" "" "Unknown" "yes" "rs72549389" "0" "" "" "g.38075387A>G" "" "pathogenic" ""
"0000080622" "1" "90" "2" "38302373" "38302373" "del" "0" "00006" "CYP1B1_001016" "g.38302373del" "" "{PMID:Mashima 2001:11527932}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075230del" "" "pathogenic" ""
"0000080623" "1" "90" "2" "38301957" "38301957" "subst" "0" "00006" "CYP1B1_001017" "g.38301957T>A" "" "{PMID:Mashima 2001:11527932}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074814T>A" "" "pathogenic" ""
"0000080624" "1" "90" "2" "38301940" "38301940" "subst" "0.000269358" "00006" "CYP1B1_001018" "g.38301940C>T" "" "{PMID:Mashima 2001:11527932}" "" "" "" "Unknown" "yes" "rs59472972" "0" "" "" "g.38074797C>T" "" "pathogenic" ""
"0000080625" "1" "90" "2" "38301692" "38301692" "subst" "1.71784E-5" "00006" "CYP1B1_001019" "g.38301692G>T" "" "{PMID:Mashima 2001:11527932}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074549G>T" "" "pathogenic" ""
"0000080626" "1" "90" "2" "38301574" "38301574" "subst" "0.000291313" "00006" "CYP1B1_001020" "g.38301574C>A" "" "{PMID:Mashima 2001:11527932}" "" "" "" "Unknown" "yes" "rs72549382" "0" "" "" "g.38074431C>A" "" "pathogenic" ""
"0000080627" "1" "90" "2" "38301543" "38301544" "delins" "0" "00006" "CYP1B1_001021" "g.38301543_38301544delinsAA" "" "{PMID:Mashima 2001:11527932}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074400_38074401delinsAA" "" "pathogenic" ""
"0000080628" "1" "90" "2" "38298166" "38298166" "subst" "1.2182E-5" "00006" "CYP1B1_001022" "g.38298166C>T" "" "{PMID:Mashima 2001:11527932}" "" "" "" "Unknown" "yes" "rs72549376" "0" "" "" "g.38071023C>T" "" "pathogenic" ""
"0000080629" "1" "90" "2" "38298001" "38298001" "subst" "0" "00006" "CYP1B1_001023" "g.38298001T>C" "" "{PMID:Mashima 2001:11527932}" "" "" "" "Unknown" "yes" "rs72549372" "0" "" "" "g.38070858T>C" "" "pathogenic" ""
"0000080630" "1" "90" "2" "38301847" "38301847" "subst" "0.0110195" "00006" "CYP1B1_001024" "g.38301847C>T" "" "{PMID:Michels-Rautenstrauss 2001:11558822}" "" "" "" "Unknown" "yes" "rs57865060" "0" "" "" "g.38074704C>T" "" "pathogenic" ""
"0000080631" "1" "90" "2" "38298434" "38298434" "subst" "1.6609E-5" "00006" "CYP1B1_001025" "g.38298434G>A" "" "{PMID:Michels-Rautenstrauss 2001:11558822}" "" "" "" "Unknown" "yes" "rs57865060" "0" "" "" "g.38071291G>A" "" "pathogenic" ""
"0000080632" "1" "50" "2" "38298169" "38298169" "subst" "0.00419475" "00006" "CYP1B1_000007" "g.38298169G>C" "" "{PMID:Michels-Rautenstrauss 2001:11558822}" "" "" "" "Unknown" "yes" "rs4986888" "0" "" "" "g.38071026G>C" "" "VUS" ""
"0000080633" "1" "90" "2" "38301499" "38301499" "subst" "0.000122894" "00006" "CYP1B1_001026" "g.38301499G>A" "" "{PMID:Vincent 2002:11774072}" "" "" "" "Unknown" "yes" "rs66583685" "0" "" "" "g.38074356G>A" "" "pathogenic" ""
"0000080634" "1" "90" "2" "38302502" "38302503" "ins" "0" "00006" "CYP1B1_001027" "g.38302502_38302503insT" "" "{PMID:Panicker 2002:11980847}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075359_38075360insT" "" "pathogenic" ""
"0000080635" "1" "90" "2" "38301954" "38301954" "subst" "0.000128095" "00006" "CYP1B1_001028" "g.38301954G>A" "" "{PMID:Panicker 2002:11980847}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074811G>A" "" "pathogenic" ""
"0000080636" "1" "90" "2" "38302477" "38302477" "subst" "0" "00006" "CYP1B1_001029" "g.38302477G>A" "" "{PMID:Stoilov 2002:12036985}" "" "" "" "Unknown" "yes" "rs72549388" "0" "" "" "g.38075334G>A" "" "pathogenic" ""
"0000080637" "1" "90" "2" "38298121" "38298122" "del" "0" "00006" "CYP1B1_001030" "g.38298121_38298122del" "" "{PMID:Stoilov 2002:12036985}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38070978_38070979del" "" "pathogenic" ""
"0000080638" "1" "90" "2" "38301998" "38301998" "del" "0" "00006" "CYP1B1_001031" "g.38301998del" "" "{PMID:Belmouden 2002:12372064}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074855del" "" "pathogenic" ""
"0000080639" "1" "90" "2" "38301888" "38301888" "subst" "0.000135829" "00006" "CYP1B1_001032" "g.38301888C>A" "" "{PMID:Sitorus 2003:12525557}" "" "" "" "Unknown" "yes" "rs72549384" "0" "" "" "g.38074745C>A" "" "pathogenic" ""
"0000080640" "1" "90" "2" "38298172" "38298172" "subst" "0" "00006" "CYP1B1_001033" "g.38298172G>C" "" "{PMID:Sitorus 2003:12525557}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38071029G>C" "" "pathogenic" ""
"0000080641" "1" "90" "2" "38302256" "38302256" "del" "0" "00006" "CYP1B1_001034" "g.38302256del" "" "{PMID:Soley 2003:12567107}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075113del" "" "pathogenic" ""
"0000080642" "1" "90" "2" "38302358" "38302358" "del" "0" "00006" "CYP1B1_001035" "g.38302358del" "" "{PMID:Colomb 2003:14635112}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075215del" "" "pathogenic" ""
"0000080643" "1" "90" "2" "38301838" "38301838" "subst" "0" "00006" "CYP1B1_001036" "g.38301838C>G" "" "{PMID:Colomb 2003:14635112}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074695C>G" "" "pathogenic" ""
"0000080644" "1" "90" "2" "38301790" "38301790" "subst" "0" "00006" "CYP1B1_001037" "g.38301790G>A" "" "{PMID:Colomb 2003:14635112}" "" "" "" "Unknown" "yes" "rs66913338" "0" "" "" "g.38074647G>A" "" "pathogenic" ""
"0000080645" "1" "90" "2" "38298301" "38298301" "subst" "0" "00006" "CYP1B1_001038" "g.38298301A>C" "" "{PMID:Colomb 2003:14635112}" "" "" "" "Unknown" "yes" "rs72549378" "0" "" "" "g.38071158A>C" "" "pathogenic" ""
"0000080646" "1" "90" "2" "38298230" "38298230" "subst" "1.21897E-5" "00006" "CYP1B1_001039" "g.38298230T>A" "" "{PMID:Colomb 2003:14635112}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38071087T>A" "" "pathogenic" ""
"0000080647" "1" "90" "2" "38298167" "38298167" "subst" "4.06068E-5" "00006" "CYP1B1_001040" "g.38298167G>A" "" "{PMID:Colomb 2003:14635112}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38071024G>A" "" "pathogenic" ""
"0000080648" "1" "90" "2" "38298329" "38298329" "subst" "2.4562E-5" "00006" "CYP1B1_001041" "g.38298329G>A" "" "{PMID:Curry 2004:15255109}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38071186G>A" "" "pathogenic" ""
"0000080649" "1" "90" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "" "{PMID:Fukatsu 2004:15330195}" "" "" "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." "Unknown" "yes" "rs1056836" "0" "" "" "g.38071060G>C" "" "pathogenic" ""
"0000080650" "1" "90" "2" "38302291" "38302291" "subst" "0.00353627" "00006" "CYP1B1_001042" "g.38302291A>T" "" "{PMID:Melki 2004:15342693}" "" "" "" "Unknown" "yes" "rs9282671" "0" "" "" "g.38075148A>T" "" "pathogenic" ""
"0000080651" "1" "90" "2" "38302189" "38302189" "subst" "1.01244E-5" "00006" "CYP1B1_001043" "g.38302189C>G" "" "{PMID:Reddy 2004:15475877}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075046C>G" "" "pathogenic" ""
"0000080652" "1" "90" "2" "38302137" "38302137" "subst" "0" "00006" "CYP1B1_001044" "g.38302137A>C" "" "{PMID:Reddy 2004:15475877}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074994A>C" "" "pathogenic" ""
"0000080653" "1" "90" "2" "38302101" "38302101" "subst" "0" "00006" "CYP1B1_001045" "g.38302101T>G" "" "{PMID:Reddy 2004:15475877}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074958T>G" "" "pathogenic" ""
"0000080654" "1" "90" "2" "38301817" "38301817" "subst" "0" "00006" "CYP1B1_001046" "g.38301817T>G" "" "{PMID:Reddy 2004:15475877}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074674T>G" "" "pathogenic" ""
"0000080655" "1" "90" "2" "38298100" "38298100" "subst" "0" "00006" "CYP1B1_001047" "g.38298100C>T" "" "{PMID:Reddy 2004:15475877}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38070957C>T" "" "pathogenic" ""
"0000080656" "1" "90" "2" "38298335" "38298335" "subst" "0" "00006" "CYP1B1_001048" "g.38298335C>T" "" "{PMID:Alfadhli 2006:16490498}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38071192C>T" "" "pathogenic" ""
"0000080657" "1" "90" "2" "38297953" "38297953" "subst" "0" "00006" "CYP1B1_001049" "g.38297953G>A" "" "{PMID:Acharya 2006:16688110}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38070810G>A" "" "pathogenic" ""
"0000080658" "1" "90" "2" "38297929" "38297929" "subst" "0" "00006" "CYP1B1_001050" "g.38297929C>G" "" "{PMID:Acharya 2006:16688110}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38070786C>G" "" "pathogenic" ""
"0000080659" "1" "90" "2" "38297908" "38297908" "subst" "0" "00006" "CYP1B1_001051" "g.38297908T>C" "" "{PMID:Acharya 2006:16688110}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38070765T>C" "" "pathogenic" ""
"0000080660" "1" "90" "2" "38302180" "38302180" "subst" "0" "00006" "CYP1B1_001052" "g.38302180G>T" "" "{PMID:Vincent 2006:16735991}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075037G>T" "" "pathogenic" ""
"0000080661" "1" "90" "2" "38302408" "38302408" "subst" "0" "00006" "CYP1B1_001053" "g.38302408G>A" "" "{PMID:Chavarria-Soley 2006:16735994}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075265G>A" "" "pathogenic" ""
"0000080662" "1" "90" "2" "38302381" "38302381" "dup" "0" "00006" "CYP1B1_001054" "g.38302381dup" "" "{PMID:Chavarria-Soley 2006:16735994}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075238dup" "" "pathogenic" ""
"0000080663" "1" "90" "2" "38298195" "38298195" "subst" "0" "00006" "CYP1B1_001055" "g.38298195C>T" "" "{PMID:Chavarria-Soley 2006:16735994}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38071052C>T" "" "pathogenic" ""
"0000080664" "1" "90" "2" "38302100" "38302100" "subst" "0" "00006" "CYP1B1_001056" "g.38302100C>A" "" "{PMID:Lopez-Garrido 2006:16862072}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074957C>A" "" "pathogenic" ""
"0000080665" "1" "90" "2" "38302099" "38302099" "subst" "0" "00006" "CYP1B1_001057" "g.38302099G>A" "" "{PMID:Lopez-Garrido 2006:16862072}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074956G>A" "" "pathogenic" ""
"0000080666" "1" "90" "2" "38301967" "38301967" "subst" "0" "00006" "CYP1B1_001058" "g.38301967C>G" "" "{PMID:Lopez-Garrido 2006:16862072}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074824C>G" "" "pathogenic" ""
"0000080667" "1" "90" "2" "38302449" "38302449" "subst" "2.52374E-5" "00006" "CYP1B1_001059" "g.38302449G>C" "" "{PMID:Lopez-Garrido 2006:16862072}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075306G>C" "" "pathogenic" ""
"0000080668" "1" "90" "2" "38301544" "38301544" "subst" "0" "00006" "CYP1B1_001060" "g.38301544C>A" "" "{PMID:Lopez-Garrido 2006:16862072}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074401C>A" "" "pathogenic" ""
"0000080669" "1" "90" "2" "38298272" "38298272" "subst" "4.0661E-6" "00006" "CYP1B1_001061" "g.38298272C>A" "" "{PMID:Lopez-Garrido 2006:16862072}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38071129C>A" "" "pathogenic" ""
"0000080670" "1" "90" "2" "38302182" "38302182" "subst" "0" "00006" "CYP1B1_001062" "g.38302182C>G" "" "{PMID:Hollander 2006:17157584}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075039C>G" "" "pathogenic" ""
"0000080671" "1" "90" "2" "38301907" "38301907" "subst" "0" "00006" "CYP1B1_001063" "g.38301907A>G" "" "{PMID:Hollander 2006:17157584}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074764A>G" "" "pathogenic" ""
"0000080672" "1" "90" "2" "38301703" "38301703" "del" "0" "00006" "CYP1B1_001064" "g.38301703del" "" "{PMID:Messina-Baas 2007:17164573}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074560del" "" "pathogenic" ""
"0000080673" "1" "90" "2" "38298389" "38298389" "del" "0" "00006" "CYP1B1_001065" "g.38298389del" "" "{PMID:Messina-Baas 2007:17164573}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38071246del" "" "pathogenic" ""
"0000080674" "1" "90" "2" "38298287" "38298296" "dup" "0" "00006" "CYP1B1_001066" "g.38298287_38298296dup" "" "{PMID:Messina-Baas 2007:17164573}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38071144_38071153dup" "" "pathogenic" ""
"0000080675" "1" "90" "2" "38302015" "38302015" "subst" "7.1055E-6" "00006" "CYP1B1_001067" "g.38302015C>T" "" "{PMID:El-Ashry 2007:17224759}" "" "" "" "Unknown" "yes" "rs72481807" "0" "" "" "g.38074872C>T" "" "pathogenic" ""
"0000080676" "1" "90" "2" "38298005" "38298005" "subst" "0" "00006" "CYP1B1_001068" "g.38298005T>C" "" "{PMID:El-Ashry 2007:17224759}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38070862T>C" "" "pathogenic" ""
"0000080677" "1" "90" "2" "38302204" "38302204" "subst" "0" "00006" "CYP1B1_001069" "g.38302204G>A" "" "{PMID:Ramprasad 2007:17454743}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075061G>A" "" "pathogenic" ""
"0000080678" "1" "90" "2" "38301657" "38301657" "subst" "0" "00006" "CYP1B1_001070" "g.38301657A>T" "" "{PMID:Kumar 2007:17563717}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074514A>T" "" "pathogenic" ""
"0000080679" "1" "90" "2" "38302349" "38302349" "del" "0" "00006" "CYP1B1_001071" "g.38302349del" "" "{PMID:Chitsazian 2007:17591938}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075206del" "" "pathogenic" ""
"0000080680" "1" "90" "2" "38302289" "38302289" "subst" "0" "00006" "CYP1B1_001072" "g.38302289G>T" "" "{PMID:Chitsazian 2007:17591938}" "" "" "" "Unknown" "yes" "rs72480437" "0" "" "" "g.38075146G>T" "" "pathogenic" ""
"0000080681" "1" "90" "2" "38301927" "38301927" "subst" "0" "00006" "CYP1B1_001073" "g.38301927G>T" "" "{PMID:Chitsazian 2007:17591938}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074784G>T" "" "pathogenic" ""
"0000080682" "1" "90" "2" "38301727" "38301735" "dup" "0" "00006" "CYP1B1_001074" "g.38301727_38301735dup" "" "{PMID:Chitsazian 2007:17591938}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074584_38074592dup" "" "pathogenic" ""
"0000080683" "1" "90" "2" "38301660" "38301660" "subst" "8.63714E-6" "00006" "CYP1B1_001075" "g.38301660T>C" "" "{PMID:Chitsazian 2007:17591938}" "" "" "" "Unknown" "yes" "rs72480439" "0" "" "" "g.38074517T>C" "" "pathogenic" ""
"0000080684" "1" "90" "2" "38298395" "38298395" "subst" "2.4834E-5" "00006" "CYP1B1_001076" "g.38298395G>A" "" "{PMID:Chitsazian 2007:17591938}" "" "" "" "Unknown" "yes" "rs72480442" "0" "" "" "g.38071252G>A" "" "pathogenic" ""
"0000080685" "1" "90" "2" "38297993" "38297993" "del" "0" "00006" "CYP1B1_001077" "g.38297993del" "" "{PMID:Chitsazian 2007:17591938}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38070850del" "" "pathogenic" ""
"0000080686" "1" "90" "2" "38297962" "38297981" "del" "0" "00006" "CYP1B1_001078" "g.38297962_38297981del" "" "{PMID:Chitsazian 2007:17591938}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38070819_38070838del" "" "pathogenic" ""
"0000080687" "1" "90" "2" "38301958" "38301958" "subst" "0" "00006" "CYP1B1_001079" "g.38301958C>A" "" "{PMID:Dimasi 2007:17718864}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074815C>A" "" "pathogenic" ""
"0000080688" "1" "90" "2" "38301546" "38301546" "subst" "0" "00006" "CYP1B1_001080" "g.38301546C>T" "" "{PMID:Dimasi 2007:17718864}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074403C>T" "" "pathogenic" ""
"0000080689" "1" "90" "2" "38298299" "38298299" "subst" "1.2212E-5" "00006" "CYP1B1_001081" "g.38298299G>A" "" "{PMID:Dimasi 2007:17718864}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38071156G>A" "" "pathogenic" ""
"0000080690" "1" "90" "2" "38302183" "38302183" "subst" "0" "00006" "CYP1B1_001082" "g.38302183G>A" "" "{PMID:Bagiyeva 2007:17893647}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075040G>A" "" "pathogenic" ""
"0000080691" "1" "90" "2" "38301546" "38301546" "subst" "0" "00006" "CYP1B1_001083" "g.38301546C>A" "" "{PMID:Bagiyeva 2007:17893647}" "" "" "" "Unknown" "yes" "rs72480440" "0" "" "" "g.38074403C>A" "" "pathogenic" ""
"0000080692" "1" "90" "2" "38298197" "38298197" "subst" "4.06128E-6" "00006" "CYP1B1_001084" "g.38298197A>G" "" "{PMID:Chakrabarti 2007:18055790}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38071054A>G" "" "pathogenic" ""
"0000080693" "1" "90" "2" "38298182" "38298186" "del" "0" "00006" "CYP1B1_001085" "g.38298182_38298186del" "" "{PMID:Chakrabarti 2007:18055790}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38071039_38071043del" "" "pathogenic" ""
"0000080694" "1" "90" "2" "38298344" "38298344" "subst" "4.10944E-6" "00006" "CYP1B1_001086" "g.38298344G>A" "" "{PMID:Jiang 2007:18070520}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38071201G>A" "" "pathogenic" ""
"0000080695" "1" "90" "2" "38301924" "38301924" "subst" "1.9988E-5" "00006" "CYP1B1_001087" "g.38301924T>C" "" "{PMID:Chavarria-Soley 2008:18470941}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074781T>C" "" "pathogenic" ""
"0000080696" "1" "90" "2" "38298164" "38298164" "subst" "0" "00006" "CYP1B1_001088" "g.38298164A>T" "" "{PMID:Sivadorai 2008:18537981}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38071021A>T" "" "pathogenic" ""
"0000080697" "1" "90" "2" "38302365" "38302365" "del" "0" "00006" "CYP1B1_001089" "g.38302365del" "" "{PMID:Chen 2008:18852424}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075222del" "" "pathogenic" ""
"0000080698" "1" "90" "2" "38302352" "38302352" "subst" "5.10491E-6" "00006" "CYP1B1_001090" "g.38302352G>C" "" "{PMID:Chen 2008:18852424}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075209G>C" "" "pathogenic" ""
"0000080699" "1" "90" "2" "38302248" "38302248" "subst" "0" "00006" "CYP1B1_001091" "g.38302248A>G" "" "{PMID:Chen 2008:18852424}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075105A>G" "" "pathogenic" ""
"0000080700" "1" "90" "2" "38302213" "38302213" "subst" "0.000340744" "00006" "CYP1B1_001092" "g.38302213G>C" "" "{PMID:Chen 2008:18852424}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075070G>C" "" "pathogenic" ""
"0000080701" "1" "90" "2" "38302180" "38302197" "dup" "0" "00006" "CYP1B1_001093" "g.38302180_38302197dup" "" "{PMID:Chen 2008:18852424}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075037_38075054dup" "" "pathogenic" ""
"0000080702" "1" "90" "2" "38302180" "38302180" "subst" "0" "00006" "CYP1B1_001094" "g.38302180G>A" "" "{PMID:Chen 2008:18852424}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075037G>A" "" "pathogenic" ""
"0000080703" "1" "90" "2" "38302131" "38302131" "subst" "0" "00006" "CYP1B1_001095" "g.38302131A>G" "" "{PMID:Chen 2008:18852424}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074988A>G" "" "pathogenic" ""
"0000080704" "1" "90" "2" "38301673" "38301673" "subst" "0.000171255" "00006" "CYP1B1_001096" "g.38301673C>T" "" "{PMID:Chen 2008:18852424}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074530C>T" "" "pathogenic" ""
"0000080705" "1" "90" "2" "38301576" "38301576" "subst" "1.23011E-5" "00006" "CYP1B1_001097" "g.38301576T>C" "" "{PMID:Chen 2008:18852424}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074433T>C" "" "pathogenic" ""
"0000080706" "1" "90" "2" "38298121" "38298125" "delins" "0" "00006" "CYP1B1_001098" "g.38298121_38298125delinsTTTTTCAACAA" "" "{PMID:Chen 2008:18852424}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38070978_38070982delinsTTTTTCAACAA" "" "pathogenic" ""
"0000080707" "1" "90" "2" "38302002" "38302002" "subst" "0" "00006" "CYP1B1_001099" "g.38302002A>C" "" "{PMID:Firasat 2008:18989382}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074859A>C" "" "pathogenic" ""
"0000080708" "1" "90" "2" "38298375" "38298375" "subst" "0" "00006" "CYP1B1_001100" "g.38298375G>C" "" "{PMID:Firasat 2008:18989382}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38071232G>C" "" "pathogenic" ""
"0000080709" "1" "90" "2" "38298037" "38298037" "subst" "0" "00006" "CYP1B1_001101" "g.38298037A>G" "" "{PMID:Firasat 2008:18989382}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38070894A>G" "" "pathogenic" ""
"0000080710" "1" "90" "2" "38302326" "38302333" "del" "0" "00006" "CYP1B1_001102" "g.38302326_38302333del" "" "{PMID:Weisschuh 2009:19195637}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075183_38075190del" "" "pathogenic" ""
"0000080711" "1" "90" "2" "38302002" "38302002" "subst" "0" "00006" "CYP1B1_001103" "g.38302002A>G" "" "{PMID:Weisschuh 2009:19195637}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074859A>G" "" "pathogenic" ""
"0000080712" "1" "90" "2" "38301964" "38301964" "subst" "0" "00006" "CYP1B1_001104" "g.38301964A>G" "" "{PMID:Weisschuh 2009:19195637}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074821A>G" "" "pathogenic" ""
"0000080713" "1" "90" "2" "38301687" "38301687" "subst" "0" "00006" "CYP1B1_001105" "g.38301687C>T" "" "{PMID:Weisschuh 2009:19195637}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074544C>T" "" "pathogenic" ""
"0000080714" "1" "90" "2" "38302215" "38302215" "subst" "2.06509E-5" "00006" "CYP1B1_001106" "g.38302215G>T" "" "{PMID:Campos-Mollo 2009:19234632}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075072G>T" "" "pathogenic" ""
"0000080715" "1" "90" "2" "38302015" "38302015" "subst" "7.1055E-6" "00006" "CYP1B1_001107" "g.38302015C>A" "" "{PMID:Campos-Mollo 2009:19234632}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074872C>A" "" "pathogenic" ""
"0000080716" "1" "90" "2" "38301749" "38301749" "subst" "0" "00006" "CYP1B1_001108" "g.38301749G>T" "" "{PMID:Campos-Mollo 2009:19234632}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074606G>T" "" "pathogenic" ""
"0000080717" "1" "90" "2" "38301748" "38301748" "subst" "0" "00006" "CYP1B1_001109" "g.38301748C>A" "" "{PMID:Campos-Mollo 2009:19234632}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074605C>A" "" "pathogenic" ""
"0000080718" "1" "90" "2" "38297958" "38297963" "del" "0" "00006" "CYP1B1_001110" "g.38297958_38297963del" "" "{PMID:Campos-Mollo 2009:19234632}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38070815_38070820del" "" "pathogenic" ""
"0000080719" "1" "90" "2" "38301704" "38301704" "del" "0" "00006" "CYP1B1_001111" "g.38301704del" "" "{PMID:Yang 2009:19247456}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074561del" "" "pathogenic" ""
"0000080720" "1" "90" "2" "38298085" "38298085" "subst" "0" "00006" "CYP1B1_001112" "g.38298085A>C" "" "{PMID:Yang 2009:19247456}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38070942A>C" "" "pathogenic" ""
"0000080721" "1" "90" "2" "38298364" "38298364" "subst" "0" "00006" "CYP1B1_001113" "g.38298364A>T" "" "{PMID:Della Paolera 2009:19528825}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38071221A>T" "" "pathogenic" ""
"0000080722" "1" "90" "2" "38301815" "38301815" "del" "0" "00006" "CYP1B1_001114" "g.38301815del" "" "{PMID:Paolera 2009:19528825}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074672del" "" "pathogenic" ""
"0000080723" "1" "90" "2" "38301962" "38301962" "subst" "0" "00006" "CYP1B1_001115" "g.38301962G>T" "" "{PMID:Tanwar 2009:19536304}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074819G>T" "" "pathogenic" ""
"0000080724" "1" "90" "2" "38302461" "38302461" "subst" "0" "00006" "CYP1B1_001116" "g.38302461A>C" "" "{PMID:Tanwar 2009:19536304}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075318A>C" "" "pathogenic" ""
"0000080725" "1" "90" "2" "38297929" "38297929" "subst" "0" "00006" "CYP1B1_001117" "g.38297929C>T" "" "{PMID:Bar-Yosef 2009:19593207}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38070786C>T" "" "pathogenic" ""
"0000080726" "1" "90" "2" "38302029" "38302029" "subst" "0" "00006" "CYP1B1_001118" "g.38302029C>T" "" "{PMID:López-Garrido 2010:19793111}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074886C>T" "" "pathogenic" ""
"0000080727" "1" "90" "2" "38298163" "38298163" "subst" "0" "00006" "CYP1B1_001119" "g.38298163A>G" "" "{PMID:Narooie-Nejad 2009:19898634}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38071020A>G" "" "pathogenic" ""
"0000080728" "1" "90" "2" "38302285" "38302285" "del" "0" "00006" "CYP1B1_001120" "g.38302285del" "" "{PMID:Tanwar 2009:20057908}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075142del" "" "pathogenic" ""
"0000080729" "1" "90" "2" "38301697" "38301697" "subst" "0" "00006" "CYP1B1_001121" "g.38301697G>C" "" "{PMID:Tanwar 2009:20057908}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074554G>C" "" "pathogenic" ""
"0000080730" "1" "90" "2" "38298207" "38298207" "subst" "4.06157E-5" "00006" "CYP1B1_001122" "g.38298207G>C" "" "{PMID:Fuse 2010:20151268}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38071064G>C" "" "pathogenic" ""
"0000080731" "1" "90" "2" "38302045" "38302045" "subst" "4.18218E-5" "00006" "CYP1B1_001123" "g.38302045G>A" "" "{PMID:Hilal 2010:20664688}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074902G>A" "" "pathogenic" ""
"0000080732" "1" "90" "2" "38301909" "38301910" "del" "0" "00006" "CYP1B1_001124" "g.38301909_38301910del" "" "{PMID:Hilal 2010:20664688}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074766_38074767del" "" "pathogenic" ""
"0000080733" "1" "90" "2" "38298088" "38298088" "subst" "0" "00006" "CYP1B1_001125" "g.38298088C>T" "" "{PMID:Hilal 2010:20664688}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38070945C>T" "" "pathogenic" ""
"0000080734" "1" "90" "2" "38297963" "38297963" "del" "0" "00006" "CYP1B1_001126" "g.38297963del" "" "{PMID:Geyer 2011:21168818}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38070820del" "" "pathogenic" ""
"0000080735" "1" "90" "2" "38301776" "38301776" "subst" "0" "00006" "CYP1B1_001127" "g.38301776G>T" "" "{PMID:Khan 2011:21306220}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074633G>T" "" "pathogenic" ""
"0000080736" "1" "90" "2" "38298118" "38298118" "subst" "0" "00006" "CYP1B1_001128" "g.38298118A>T" "" "{PMID:Khan 2011:21306220}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38070975A>T" "" "pathogenic" ""
"0000080737" "1" "90" "2" "38298043" "38298043" "subst" "0" "00006" "CYP1B1_001129" "g.38298043G>A" "" "{PMID:Khan 2011:21306220}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38070900G>A" "" "pathogenic" ""
"0000080738" "1" "90" "2" "38297942" "38297942" "subst" "0" "00006" "CYP1B1_001130" "g.38297942T>C" "" "{PMID:Khan 2011:21306220}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38070799T>C" "" "pathogenic" ""
"0000080739" "1" "90" "2" "38302207" "38302207" "subst" "0" "00006" "CYP1B1_001131" "g.38302207G>A" "" "{PMID:Kelberman 2011:21600657}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38075064G>A" "" "pathogenic" ""
"0000080740" "1" "90" "2" "38301889" "38301893" "delins" "0" "00006" "CYP1B1_001132" "g.38301889_38301893delinsGAT" "" "{PMID:Kelberman 2011:21600657}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074746_38074750delinsGAT" "" "pathogenic" ""
"0000080741" "1" "90" "2" "38301658" "38301668" "delins" "0" "00006" "CYP1B1_001133" "g.38301658_38301668delinsCC" "" "{PMID:Kelberman 2011:21600657}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38074515_38074525delinsCC" "" "pathogenic" ""
"0000080742" "1" "90" "2" "38298288" "38298299" "dup" "0" "00006" "CYP1B1_001134" "g.38298288_38298299dup" "" "{PMID:Kelberman 2011:21600657}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38071145_38071156dup" "" "pathogenic" ""
"0000080743" "1" "90" "2" "38298242" "38298243" "del" "0" "00006" "CYP1B1_001135" "g.38298242_38298243del" "" "{PMID:Kim 2011:21850185}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.38071099_38071100del" "" "pathogenic" ""
"0000080744" "1" "10" "2" "38301803" "38301803" "subst" "0.0172931" "00006" "CYP1B1_001003" "g.38301803C>G" "" "{PMID:Aklillu 2002:11854439}" "" "4110T>C" "" "Germline" "" "" "0" "" "" "g.38074660C>G" "" "benign" ""
"0000080745" "1" "10" "2" "38298419" "38298419" "subst" "0.00091629" "00006" "CYP1B1_001004" "g.38298419A>G" "" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "no" "" "0" "" "" "g.38071276A>G" "" "benign" ""
"0000080746" "1" "10" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "" "{PMID:Aklillu 2002:11854439}" "" "" "expression cloning yeast, normal expression/folding, normal clearance (estradiol)" "In vitro (cloned)" "" "rs10012" "0" "" "" "g.38075247G>C" "" "NA" ""
"0000080747" "1" "10" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "" "{PMID:Aklillu 2002:11854439}" "" "" "expression cloning yeast, normal expression/folding, normal clearance (estradiol)\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." "In vitro (cloned)" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "NA" ""
"0000080748" "1" "10" "2" "38298139" "38298139" "subst" "0.153766" "00006" "CYP1B1_000004" "g.38298139T>C" "" "{PMID:Aklillu 2002:11854439}" "" "" "expression cloning yeast, normal expression/folding, normal clearance (estradiol)" "In vitro (cloned)" "" "rs1800440" "0" "" "" "g.38070996T>C" "" "NA" ""
"0000080749" "1" "70" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "" "{PMID:Aklillu 2002:11854439}" "" "" "expression cloning yeast, normal expression/folding, 2-5 fold reduced clearance (estradiol)\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." "In vitro (cloned)" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "NA" ""
"0000080750" "1" "70" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "" "{PMID:Aklillu 2002:11854439}" "" "" "expression cloning yeast, normal expression/folding, 2-5 fold reduced clearance (estradiol)\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." "In vitro (cloned)" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "NA" ""
"0000080751" "1" "10" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "" "{PMID:Aklillu 2002:11854439}" "" "" "expression cloning yeast, normal expression/folding, normal clearance (estradiol)\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." "In vitro (cloned)" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "NA" ""
"0000080752" "1" "10" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "" "{PMID:Aklillu 2002:11854439}" "" "" "expression cloning yeast, normal expression/folding, normal clearance (estradiol)\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." "In vitro (cloned)" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "NA" ""
"0000080753" "1" "10" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "" "{PMID:McLellan 2000:10871058}" "" "" "expression cloning yeast, normal expression/folding and activity" "In vitro (cloned)" "" "rs10012" "0" "" "" "g.38075247G>C" "" "NA" ""
"0000080754" "1" "10" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "" "{PMID:Aklillu 2002:11854439}" "" "" "expression cloning yeast, normal expression/folding, normal clearance (estradiol)" "In vitro (cloned)" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "NA" ""
"0000080755" "1" "70" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "" "{PMID:Aklillu 2002:11854439}" "" "" "expression cloning yeast, normal expression/folding, 2-5 fold reduced clearance (estradiol)" "In vitro (cloned)" "" "rs10012" "0" "" "" "g.38075247G>C" "" "NA" ""
"0000080756" "1" "70" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "" "{PMID:Aklillu 2002:11854439}" "" "" "expression cloning yeast, normal expression/folding, 2-5 fold reduced clearance (estradiol)" "In vitro (cloned)" "" "rs10012" "0" "" "" "g.38075247G>C" "" "NA" ""
"0000080757" "1" "70" "2" "38298169" "38298169" "subst" "0.00419475" "00006" "CYP1B1_000007" "g.38298169G>C" "" "{PMID:Aklillu 2002:11854439}" "" "" "expression cloning yeast, normal expression/folding, 2-5 fold reduced clearance (estradiol)" "In vitro (cloned)" "" "rs4986888" "0" "" "" "g.38071026G>C" "" "NA" ""
"0000080758" "1" "70" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "" "{PMID:Aklillu 2002:11854439}" "" "" "expression cloning yeast, normal expression/folding, 2-5 fold reduced clearance (estradiol)" "In vitro (cloned)" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "NA" ""
"0000080759" "1" "10" "2" "38298139" "38298139" "subst" "0.153766" "00006" "CYP1B1_000004" "g.38298139T>C" "" "{PMID:Aklillu 2002:11854439}" "" "" "expression cloning yeast, normal expression/folding, normal clearance (estradiol)" "In vitro (cloned)" "" "rs1800440" "0" "" "" "g.38070996T>C" "" "NA" ""
"0000080760" "1" "10" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "" "{PMID:Aklillu 2002:11854439}" "" "" "expression cloning yeast, normal expression/folding, normal clearance (estradiol)" "In vitro (cloned)" "" "rs10012" "0" "" "" "g.38075247G>C" "" "NA" ""
"0000080761" "1" "10" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "" "{PMID:McLellan 2000:10871058}" "" "" "expression cloning yeast, normal expression/folding and activity" "In vitro (cloned)" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "NA" ""
"0000080794" "1" "50" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000080795" "1" "50" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000080796" "1" "50" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000080797" "1" "50" "2" "38298139" "38298139" "subst" "0.153766" "00006" "CYP1B1_000004" "g.38298139T>C" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs1800440" "0" "" "" "g.38070996T>C" "" "VUS" ""
"0000080798" "1" "50" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000080799" "2" "50" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "4326C>G" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000080800" "2" "50" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000080801" "1" "50" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000080802" "2" "50" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000080803" "2" "50" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "4360C>G" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000080804" "2" "50" "2" "38298169" "38298169" "subst" "0.00419475" "00006" "CYP1B1_000007" "g.38298169G>C" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs4986888" "0" "" "" "g.38071026G>C" "" "VUS" ""
"0000080805" "1" "50" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "4326C>G" "" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "VUS" ""
"0000080806" "2" "50" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "4326C>G" "" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "VUS" ""
"0000080807" "1" "50" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000080808" "2" "50" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000080809" "2" "50" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000080810" "1" "50" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "4326C>G" "" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "VUS" ""
"0000080811" "2" "50" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "4326C>G" "" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "VUS" ""
"0000080812" "2" "50" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000080813" "2" "50" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "4360C>G" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000080814" "2" "50" "2" "38298169" "38298169" "subst" "0.00419475" "00006" "CYP1B1_000007" "g.38298169G>C" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs4986888" "0" "" "" "g.38071026G>C" "" "VUS" ""
"0000080815" "2" "50" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "4326C>G" "" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "VUS" ""
"0000080816" "2" "50" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "4326C>G" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000080817" "2" "50" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000080818" "1" "50" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "1/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "VUS" ""
"0000080893" "1" "50" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "10/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000080894" "1" "50" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "10/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000080895" "1" "50" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "10/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "VUS" ""
"0000080896" "1" "10" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "11/100 individuals" "{PMID:Stoilov 1998:09497261}" "" "G>C (Val432Leu)" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "benign" ""
"0000080897" "2" "10" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "11/100 individuals" "{PMID:Stoilov 1998:09497261}" "" "G>C (Val432Leu)" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "benign" ""
"0000080902" "1" "10" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "134/328 chromosomes" "{PMID:Bailey 1998:09823305}" "Eco57I-" "1294G>C (Val432Leu)" "allele m1\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." "Germline" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "benign" ""
"0000080911" "1" "50" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "19/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000080912" "2" "50" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "19/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000080913" "1" "50" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "19/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "VUS" ""
"0000080914" "2" "50" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "19/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "VUS" ""
"0000080915" "1" "10" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "19/164 cases" "{PMID:Bailey 1998:09823305}" "Eco57I-" "1294G>C (Val432Leu)" "allele m1\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." "Germline" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "benign" ""
"0000080916" "2" "10" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "19/164 cases" "{PMID:Bailey 1998:09823305}" "Eco57I-" "1294G>C (Val432Leu)" "allele m1\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." "Germline" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "benign" ""
"0000080919" "1" "50" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "2/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000080920" "2" "50" "2" "38298139" "38298139" "subst" "0.153766" "00006" "CYP1B1_000004" "g.38298139T>C" "2/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs1800440" "0" "" "" "g.38070996T>C" "" "VUS" ""
"0000080921" "1" "50" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "2/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "VUS" ""
"0000080933" "1" "50" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "21/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "4326C>G" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000080934" "2" "50" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "21/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000080938" "1" "10" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "27/164 cases" "{PMID:Bailey 1998:09823305}" "Eco57I-" "1294G>C (Val432Leu)" "allele m1\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." "Germline" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "benign" ""
"0000080939" "2" "10" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "27/164 cases" "{PMID:Bailey 1998:09823305}" "Eco57I-" "1294G>C (Val432Leu)" "allele m1\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." "Germline" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "benign" ""
"0000080940" "1" "50" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "3/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "4360C>G" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000080941" "1" "50" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "3/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000080942" "1" "50" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "3/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000080943" "1" "50" "2" "38298169" "38298169" "subst" "0.00419475" "00006" "CYP1B1_000007" "g.38298169G>C" "3/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs4986888" "0" "" "" "g.38071026G>C" "" "VUS" ""
"0000080944" "1" "50" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "3/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "4326C>G" "" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "VUS" ""
"0000080945" "2" "50" "2" "38298139" "38298139" "subst" "0.153766" "00006" "CYP1B1_000004" "g.38298139T>C" "3/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs1800440" "0" "" "" "g.38070996T>C" "" "VUS" ""
"0000080948" "1" "10" "2" "38298139" "38298139" "subst" "0.153766" "00006" "CYP1B1_000004" "g.38298139T>C" "34/100 individuals" "{PMID:Stoilov 1998:09497261}" "" "" "" "Germline" "" "rs1800440" "0" "" "" "g.38070996T>C" "" "benign" ""
"0000080949" "1" "10" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "35/100 individuals" "{PMID:Stoilov 1998:09497261}" "" "G>C (Val432Leu)" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "benign" ""
"0000080950" "1" "11" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "36/70 individuals" "{PMID:Stoilov 1997:09097971}" "" "1640G>C (Val432Leu)" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "benign" ""
"0000080952" "1" "10" "2" "38298150" "38298150" "subst" "0.634263" "00006" "CYP1B1_001002" "g.38298150A>G" "39/100 individuals" "{PMID:Stoilov 1998:09497261}" "" "codon 449 T>C" "" "Germline" "" "" "0" "" "" "g.38071007A>G" "" "benign" ""
"0000080953" "1" "10" "2" "38302544" "38302544" "subst" "0.293226" "00006" "CYP1B1_001005" "g.38302544G>A" "39/100 individuals" "{PMID:Stoilov 1998:09497261}" "" "" "description contains CT too much" "Germline" "" "" "0" "" "" "g.38075401G>A" "" "benign" ""
"0000080954" "1" "10" "2" "38298139" "38298139" "subst" "0.153766" "00006" "CYP1B1_000004" "g.38298139T>C" "4/118 chromosomes" "{PMID:Bailey 1998:09823305}" "Cac8I+" "" "allele m2" "Germline" "" "rs1800440" "0" "" "" "g.38070996T>C" "" "benign" ""
"0000080956" "1" "10" "2" "38298139" "38298139" "subst" "0.153766" "00006" "CYP1B1_000004" "g.38298139T>C" "4/164 cases" "{PMID:Bailey 1998:09823305}" "Cac8I+" "" "allele m2" "Germline" "" "rs1800440" "0" "" "" "g.38070996T>C" "" "benign" ""
"0000080957" "2" "10" "2" "38298139" "38298139" "subst" "0.153766" "00006" "CYP1B1_000004" "g.38298139T>C" "4/164 cases" "{PMID:Bailey 1998:09823305}" "Cac8I+" "" "allele m2" "Germline" "" "rs1800440" "0" "" "" "g.38070996T>C" "" "benign" ""
"0000080983" "1" "10" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "40/100 individuals" "{PMID:Stoilov 1998:09497261}" "" "" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "benign" ""
"0000080984" "1" "10" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "40/100 individuals" "{PMID:Stoilov 1998:09497261}" "" "" "" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "benign" ""
"0000080985" "1" "50" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "44/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000080986" "2" "50" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "44/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "4326C>G" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000080987" "1" "50" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "44/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "4326C>G" "" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "VUS" ""
"0000080988" "1" "10" "2" "38298139" "38298139" "subst" "0.153766" "00006" "CYP1B1_000004" "g.38298139T>C" "48/164 cases" "{PMID:Bailey 1998:09823305}" "Cac8I+" "" "allele m2" "Germline" "" "rs1800440" "0" "" "" "g.38070996T>C" "" "benign" ""
"0000080989" "1" "10" "2" "38298139" "38298139" "subst" "0.153766" "00006" "CYP1B1_000004" "g.38298139T>C" "49/164 cases" "{PMID:Bailey 1998:09823305}" "Cac8I+" "" "allele m2" "Germline" "" "rs1800440" "0" "" "" "g.38070996T>C" "" "benign" ""
"0000080990" "1" "10" "2" "38298139" "38298139" "subst" "0.153766" "00006" "CYP1B1_000004" "g.38298139T>C" "5/164 cases" "{PMID:Bailey 1998:09823305}" "Cac8I+" "" "allele m2" "Germline" "" "rs1800440" "0" "" "" "g.38070996T>C" "" "benign" ""
"0000080991" "2" "10" "2" "38298139" "38298139" "subst" "0.153766" "00006" "CYP1B1_000004" "g.38298139T>C" "5/164 cases" "{PMID:Bailey 1998:09823305}" "Cac8I+" "" "allele m2" "Germline" "" "rs1800440" "0" "" "" "g.38070996T>C" "" "benign" ""
"0000080994" "1" "10" "2" "38298150" "38298150" "subst" "0.634263" "00006" "CYP1B1_001002" "g.38298150A>G" "51/100 individuals" "{PMID:Stoilov 1998:09497261}" "" "codon 449 T>C" "" "Germline" "" "" "0" "" "" "g.38071007A>G" "" "benign" ""
"0000080995" "2" "10" "2" "38298150" "38298150" "subst" "0.634263" "00006" "CYP1B1_001002" "g.38298150A>G" "51/100 individuals" "{PMID:Stoilov 1998:09497261}" "" "codon 449 T>C" "" "Germline" "" "" "0" "" "" "g.38071007A>G" "" "benign" ""
"0000080996" "1" "10" "2" "38298139" "38298139" "subst" "0.153766" "00006" "CYP1B1_000004" "g.38298139T>C" "57/328 chromosomes" "{PMID:Bailey 1998:09823305}" "Cac8I+" "" "allele m2" "Germline" "" "rs1800440" "0" "" "" "g.38070996T>C" "" "benign" ""
"0000081000" "1" "10" "2" "38298139" "38298139" "subst" "0.153766" "00006" "CYP1B1_000004" "g.38298139T>C" "7/100 individuals" "{PMID:Stoilov 1998:09497261}" "" "" "" "Germline" "" "rs1800440" "0" "" "" "g.38070996T>C" "" "benign" ""
"0000081001" "2" "10" "2" "38298139" "38298139" "subst" "0.153766" "00006" "CYP1B1_000004" "g.38298139T>C" "7/100 individuals" "{PMID:Stoilov 1998:09497261}" "" "" "" "Germline" "" "rs1800440" "0" "" "" "g.38070996T>C" "" "benign" ""
"0000081002" "1" "50" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "7/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000081003" "2" "50" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "7/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000081004" "2" "50" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "7/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "4360C>G" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000081005" "2" "50" "2" "38298169" "38298169" "subst" "0.00419475" "00006" "CYP1B1_000007" "g.38298169G>C" "7/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs4986888" "0" "" "" "g.38071026G>C" "" "VUS" ""
"0000081006" "1" "50" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "7/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "VUS" ""
"0000081007" "2" "50" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "7/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "4326C>G" "" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "VUS" ""
"0000081017" "1" "11" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "7/70 individuals" "{PMID:Stoilov 1997:09097971}" "" "1640G>C (Val432Leu)" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "benign" ""
"0000081018" "1" "11" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "7/70 individuals" "{PMID:Stoilov 1997:09097971}" "" "1640G>C (Val432Leu)" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "benign" ""
"0000081019" "1" "50" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "8/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000081020" "1" "50" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "8/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000081021" "2" "50" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "8/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000081022" "2" "50" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "8/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "4326C>G" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000081023" "1" "50" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "8/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "VUS" ""
"0000081024" "2" "50" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "8/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "4326C>G" "" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "VUS" ""
"0000081025" "2" "50" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "8/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000081026" "2" "50" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "8/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000081027" "2" "50" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "8/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "4326C>G" "" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "VUS" ""
"0000081029" "1" "10" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "82/118 chromosomes" "{PMID:Bailey 1998:09823305}" "Eco57I-" "1294G>C (Val432Leu)" "allele m1\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." "Germline" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "benign" ""
"0000081030" "1" "10" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "85/164 cases" "{PMID:Bailey 1998:09823305}" "Eco57I-" "1294G>C (Val432Leu)" "allele m1\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." "Germline" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "benign" ""
"0000081031" "1" "10" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "9/100 individuals" "{PMID:Stoilov 1998:09497261}" "" "" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "benign" ""
"0000081032" "1" "10" "2" "38302544" "38302544" "subst" "0.293226" "00006" "CYP1B1_001005" "g.38302544G>A" "9/100 individuals" "{PMID:Stoilov 1998:09497261}" "" "" "description contains CT too much" "Germline" "" "" "0" "" "" "g.38075401G>A" "" "benign" ""
"0000081033" "2" "10" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "9/100 individuals" "{PMID:Stoilov 1998:09497261}" "" "" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "benign" ""
"0000081034" "1" "10" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "9/100 individuals" "{PMID:Stoilov 1998:09497261}" "" "" "" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "benign" ""
"0000081035" "2" "10" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "9/100 individuals" "{PMID:Stoilov 1998:09497261}" "" "" "" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "benign" ""
"0000081036" "2" "10" "2" "38302544" "38302544" "subst" "0.293226" "00006" "CYP1B1_001005" "g.38302544G>A" "9/100 individuals" "{PMID:Stoilov 1998:09497261}" "" "" "description contains CT too much" "Germline" "" "" "0" "" "" "g.38075401G>A" "" "benign" ""
"0000081037" "1" "50" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "9/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000081038" "2" "50" "2" "38302390" "38302390" "subst" "0.312614" "00006" "CYP1B1_000002" "g.38302390G>C" "9/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000081039" "2" "50" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "9/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "4360C>G" "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" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000081040" "2" "50" "2" "38298169" "38298169" "subst" "0.00419475" "00006" "CYP1B1_000007" "g.38298169G>C" "9/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "" "" "Germline" "" "rs4986888" "0" "" "" "g.38071026G>C" "" "VUS" ""
"0000081041" "2" "50" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "9/150 individuals" "{PMID:Aklillu 2002:11854439}" "" "4326C>G" "" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "VUS" ""
"0000081043" "1" "10" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "96/164 cases" "{PMID:Bailey 1998:09823305}" "Eco57I-" "1294G>C (Val432Leu)" "allele m1\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." "Germline" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "benign" ""
"0000081146" "1" "11" "2" "0" "0" "" "0" "01294" "CYP1B1_000001" "g.=" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "" "reference haplotype CYP1B1*1" "Germline" "" "" "0" "" "" "" "" "benign" ""
"0000081147" "1" "50" "2" "38302390" "38302390" "subst" "0.312614" "01294" "CYP1B1_000002" "g.38302390G>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "" "reference haplotype CYP1B1*2" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000081148" "1" "50" "2" "38298203" "38298203" "subst" "0" "01294" "CYP1B1_000003" "g.38298203G>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "4326C>G" "reference haplotype CYP1B1*3\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." "Germline" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000081149" "1" "50" "2" "38298139" "38298139" "subst" "0.153766" "01294" "CYP1B1_000004" "g.38298139T>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "4390A>G" "reference haplotype CYP1B1*4" "Germline" "" "rs1800440" "0" "" "" "g.38070996T>C" "" "VUS" ""
"0000081150" "1" "50" "2" "38298203" "38298203" "subst" "0" "01294" "CYP1B1_000003" "g.38298203G>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "4326C>G" "reference haplotype CYP1B1*5\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." "Germline" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000081151" "1" "50" "2" "38298203" "38298203" "subst" "0" "01294" "CYP1B1_000003" "g.38298203G>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "4326C>G" "reference haplotype CYP1B1*6\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." "Germline" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000081152" "1" "50" "2" "38298203" "38298203" "subst" "0" "01294" "CYP1B1_000003" "g.38298203G>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "4326C>G" "reference haplotype CYP1B1*7\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." "Germline" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000081153" "1" "50" "2" "38298203" "38298203" "subst" "0" "01294" "CYP1B1_000003" "g.38298203G>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "4326C>G" "reference haplotype CYP1B1*8\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." "Germline" "" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000081154" "1" "50" "2" "0" "0" "" "0" "01294" "CYP1B1_000009" "g.?" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "" "reference haplotype CYP1B1*9" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000081155" "1" "50" "2" "0" "0" "" "0" "01294" "CYP1B1_000010" "g.?" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "" "reference haplotype CYP1B1*10" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000081156" "1" "90" "2" "38302361" "38302361" "subst" "0" "01294" "CYP1B1_000011" "g.38302361C>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "" "reference haplotype CYP1B1*11" "Germline" "" "rs72549387" "0" "" "" "g.38075218C>G" "" "pathogenic" ""
"0000081157" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "01294" "CYP1B1_000012" "g.38302350C>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "" "reference haplotype CYP1B1*12" "Germline" "" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081158" "1" "99" "2" "38302030" "38302031" "ins" "0" "01294" "CYP1B1_000013" "g.38302030_38302031insA" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "167fs" "reference haplotype CYP1B1*13" "Germline" "" "rs72549385" "0" "" "" "g.38074887_38074888insA" "" "pathogenic" ""
"0000081159" "1" "99" "2" "38301691" "38301691" "subst" "0" "01294" "CYP1B1_000014" "g.38301691C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "E281X" "reference haplotype CYP1B1*14" "Germline" "" "" "0" "" "" "g.38074548C>A" "" "pathogenic" ""
"0000081160" "1" "99" "2" "38301669" "38301669" "dup" "0" "01294" "CYP1B1_000015" "g.38301669dup" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "863_864insC (288fs)" "reference haplotype CYP1B1*15" "Germline" "" "rs67543922" "0" "" "" "g.38074526dup" "" "pathogenic" ""
"0000081161" "1" "90" "2" "38298453" "38298454" "del" "0" "01294" "CYP1B1_000016" "g.(38297864_38298453)_38298454del" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "large deletion" "reference haplotype CYP1B1*16" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000081162" "1" "99" "2" "38298421" "38298433" "del" "0.000228025" "01294" "CYP1B1_000017" "g.38298421_38298433del" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "4096_4108del (355fs)" "reference haplotype CYP1B1*17" "Germline" "" "rs72549380" "0" "" "" "g.38071278_38071290del" "" "pathogenic" ""
"0000081163" "1" "90" "2" "38298404" "38298404" "subst" "0" "01294" "CYP1B1_000018" "g.38298404C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "4125G>T" "reference haplotype CYP1B1*18" "Germline" "" "rs55771538" "0" "" "" "g.38071261C>A" "" "pathogenic" ""
"0000081164" "1" "90" "2" "38298361" "38298361" "subst" "0" "01294" "CYP1B1_000019" "g.38298361G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "4168C>T" "reference haplotype CYP1B1*19" "Germline" "" "rs56305281" "0" "" "" "g.38071218G>A" "" "pathogenic" ""
"0000081165" "1" "90" "2" "38298338" "38298338" "subst" "0.000299394" "01294" "CYP1B1_000020" "g.38298338C>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "4191G>A" "reference haplotype CYP1B1*20" "Germline" "" "rs55989760" "0" "" "" "g.38071195C>T" "" "pathogenic" ""
"0000081166" "1" "90" "2" "38298328" "38298328" "subst" "9.0068E-5" "01294" "CYP1B1_000021" "g.38298328C>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "4201G>A" "reference haplotype CYP1B1*21" "Germline" "" "rs56010818" "0" "" "" "g.38071185C>T" "" "pathogenic" ""
"0000081167" "1" "99" "2" "38298290" "38298299" "dup" "0" "01294" "CYP1B1_000022" "g.38298290_38298299dup" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "4232_4241dupTCATGCCACC (404fs)" "reference haplotype CYP1B1*22" "Germline" "" "rs587778873" "0" "" "" "g.38071147_38071156dup" "" "pathogenic" ""
"0000081168" "1" "90" "2" "38298187" "38298187" "subst" "8.12183E-6" "01294" "CYP1B1_000023" "g.38298187G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "4342C>T" "reference haplotype CYP1B1*23" "Germline" "" "rs56175199" "0" "" "" "g.38071044G>A" "" "pathogenic" ""
"0000081169" "1" "99" "2" "38298153" "38298153" "del" "0" "01294" "CYP1B1_000024" "g.38298153del" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "4377delG (449fs)" "reference haplotype CYP1B1*24" "Germline" "" "rs749073455" "0" "" "" "g.38071010del" "" "pathogenic" ""
"0000081170" "1" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "01294" "CYP1B1_000025" "g.38298092G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "4437C>T" "reference haplotype CYP1B1*25" "Germline" "" "rs28936701" "0" "" "" "g.38070949G>A" "" "pathogenic" ""
"0000081171" "1" "90" "2" "38298069" "38298095" "dup" "0" "01294" "CYP1B1_000026" "g.38298069_38298095dup" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "4435_4461dupGGCGGTGCATTGGCGAAGAACTTTCTA (477fs)" "reference haplotype CYP1B1*26" "Germline" "" "rs72549373" "0" "" "" "g.38070926_38070952dup" "" "pathogenic" ""
"0000081172" "1" "30" "2" "38298150" "38298150" "subst" "0.634263" "00006" "CYP1B1_001002" "g.38298150A>G" "" "{PMID:Bailey 1998:09823305}" "" "" "" "Germline" "" "" "0" "" "" "g.38071007A>G" "" "likely benign" ""
"0000081173" "1" "90" "2" "38298421" "38298433" "del" "0.000228025" "00006" "CYP1B1_000017" "g.38298421_38298433del" "" "{PMID:Stoilov 1997:09097971}, {PMID:Stoilov 1998:09497261}, {OMIM601771:0001}" "XhoI-" "1410-1422del (355fs)" "not in 470 control chromosomes" "Germline" "yes" "" "0" "" "" "g.38071278_38071290del" "" "pathogenic" ""
"0000081174" "1" "90" "2" "38298421" "38298433" "del" "0.000228025" "00006" "CYP1B1_000017" "g.38298421_38298433del" "" "{PMID:Stoilov 1997:09097971}, {PMID:Stoilov 1998:09497261}, {OMIM601771:0001}" "" "1410-1422del (355fs)" "not in 470 control chromosomes" "Germline" "yes" "" "0" "" "" "g.38071278_38071290del" "" "pathogenic" ""
"0000081175" "1" "90" "2" "38298421" "38298433" "del" "0.000228025" "00006" "CYP1B1_000017" "g.38298421_38298433del" "" "{PMID:Stoilov 1997:09097971}, {PMID:Stoilov 1998:09497261}, {OMIM601771:0001}" "" "1410-1422del (355fs)" "not in 470 control chromosomes" "Germline" "yes" "" "0" "" "" "g.38071278_38071290del" "" "pathogenic" ""
"0000081176" "1" "90" "2" "38301669" "38301669" "dup" "0" "00006" "CYP1B1_000015" "g.38301669dup" "" "{PMID:Stoilov 1997:09097971}, {PMID:Stoilov 1998:09497261}, {OMIM601771:0002}" "" "1209insC" "not in 470 control chromosomes" "Germline" "yes" "" "0" "" "" "g.38074526dup" "" "pathogenic" ""
"0000081177" "11" "90" "2" "38301669" "38301669" "dup" "0" "00006" "CYP1B1_000015" "g.38301669dup" "" "{PMID:Stoilov 1997:09097971}, {PMID:Stoilov 1998:09497261}, {OMIM601771:0002}" "" "1209insC" "not in 470 control chromosomes" "Germline" "yes" "" "0" "" "" "g.38074526dup" "" "pathogenic" ""
"0000081178" "1" "90" "2" "38301669" "38301669" "dup" "0" "00006" "CYP1B1_000015" "g.38301669dup" "" "{PMID:Stoilov 1997:09097971}, {PMID:Stoilov 1998:09497261}, {OMIM601771:0002}" "" "1209insC" "not in 470 control chromosomes" "Germline" "yes" "" "0" "" "" "g.38074526dup" "" "pathogenic" ""
"0000081179" "1" "90" "2" "38298453" "38298454" "del" "0" "00006" "CYP1B1_000016" "g.(38297864_38298453)_38298454del" "" "{PMID:Stoilov 1997:09097971}, {PMID:Stoilov 1998:09497261}" "" "large deletion" "not in 470 control chromosomes; deletion from intron 2 to in exon 3" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000081180" "1" "50" "2" "38298203" "38298203" "subst" "0" "00006" "CYP1B1_000003" "g.38298203G>C" "" "Rahman et al., unpublished" "" "4326C>G" "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." "Unknown" "?" "rs1056836" "0" "" "" "g.38071060G>C" "" "VUS" ""
"0000081181" "11" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Stoilov 1998:09497261}, {OMIM601771:0003}" "TaqI+" "G528A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081182" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Stoilov 1998:09497261}, {OMIM601771:0003}" "TaqI+" "G528A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081183" "11" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Stoilov 1998:09497261}, {OMIM601771:0003}" "TaqI+" "G528A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081184" "11" "90" "2" "38302030" "38302031" "ins" "0" "00006" "CYP1B1_000013" "g.38302030_38302031insA" "" "{PMID:Stoilov 1998:09497261}" "XhoI-" "847insT" "" "Germline" "yes" "" "0" "" "" "g.38074887_38074888insA" "" "pathogenic" ""
"0000081185" "3" "90" "2" "38298338" "38298338" "subst" "0.000299394" "00006" "CYP1B1_000020" "g.38298338C>T" "" "{PMID:Stoilov 1998:09497261}" "" "G1505A" "" "Germline" "yes" "rs55989760" "0" "" "" "g.38071195C>T" "" "pathogenic" ""
"0000081186" "21" "90" "2" "38298290" "38298299" "dup" "0" "00006" "CYP1B1_000022" "g.38298290_38298299dup" "" "{PMID:Stoilov 1998:09497261}, {OMIM601771:0004}" "NlaIII+" "1546dup10" "" "Germline" "yes" "" "0" "" "" "g.38071147_38071156dup" "" "pathogenic" ""
"0000081187" "3" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00006" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Stoilov 1998:09497261}" "AciI-" "C1751T" "" "Germline" "yes" "rs28936701" "0" "" "" "g.38070949G>A" "" "pathogenic" ""
"0000081188" "1" "99" "2" "38302361" "38302361" "subst" "0" "00006" "CYP1B1_000011" "g.38302361C>G" "" "{PMID:Stoilov 1998:09497261}" "" "G517C" "" "Germline" "yes" "rs72549387" "0" "" "" "g.38075218C>G" "" "pathogenic" ""
"0000081189" "1" "90" "2" "38298290" "38298299" "dup" "0" "00006" "CYP1B1_000022" "g.38298290_38298299dup" "" "{PMID:Stoilov 1998:09497261}, {OMIM601771:0004}" "NlaIII+" "1546dup10" "" "Germline" "yes" "" "0" "" "" "g.38071147_38071156dup" "" "pathogenic" ""
"0000081190" "3" "90" "2" "38298404" "38298404" "subst" "0" "00006" "CYP1B1_000018" "g.38298404C>A" "" "{PMID:Stoilov 1998:09497261}, {OMIM601771:0005}" "" "G1439T" "" "Germline" "yes" "rs55771538" "0" "" "" "g.38071261C>A" "" "pathogenic" ""
"0000081191" "1" "90" "2" "38298338" "38298338" "subst" "0.000299394" "00006" "CYP1B1_000020" "g.38298338C>T" "" "{PMID:Stoilov 1998:09497261}" "" "G1505A" "" "Germline" "yes" "rs55989760" "0" "" "" "g.38071195C>T" "" "pathogenic" ""
"0000081192" "1" "90" "2" "38298338" "38298338" "subst" "0.000299394" "00006" "CYP1B1_000020" "g.38298338C>T" "" "{PMID:Stoilov 1998:09497261}" "" "G1505A" "" "Germline" "yes" "rs55989760" "0" "" "" "g.38071195C>T" "" "pathogenic" ""
"0000081193" "1" "90" "2" "38298328" "38298328" "subst" "9.0068E-5" "00006" "CYP1B1_000021" "g.38298328C>T" "" "{PMID:Stoilov 1998:09497261}" "CfoI-" "G1515A" "" "Germline" "yes" "rs56010818" "0" "" "" "g.38071185C>T" "" "pathogenic" ""
"0000081194" "1" "90" "2" "38298290" "38298299" "dup" "0" "00006" "CYP1B1_000022" "g.38298290_38298299dup" "" "{PMID:Stoilov 1998:09497261}, {OMIM601771:0004}" "NlaIII+" "1546dup10" "" "Germline" "yes" "" "0" "" "" "g.38071147_38071156dup" "" "pathogenic" ""
"0000081196" "1" "90" "2" "38298290" "38298299" "dup" "0" "00006" "CYP1B1_000022" "g.38298290_38298299dup" "" "{PMID:Stoilov 1998:09497261}, {OMIM601771:0004}" "NlaIII+" "1546dup10" "" "Germline" "yes" "" "0" "" "" "g.38071147_38071156dup" "" "pathogenic" ""
"0000081197" "1" "90" "2" "38302030" "38302031" "ins" "0" "00006" "CYP1B1_000013" "g.38302030_38302031insA" "" "{PMID:Stoilov 1998:09497261}" "XhoI-" "847insT" "" "Germline" "yes" "" "0" "" "" "g.38074887_38074888insA" "" "pathogenic" ""
"0000081198" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Stoilov 1998:09497261}, {OMIM601771:0003}" "TaqI+" "G528A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081199" "1" "90" "2" "38301691" "38301691" "subst" "0" "00006" "CYP1B1_000014" "g.38301691C>A" "" "{PMID:Stoilov 1998:09497261}" "" "G1187T" "" "Germline" "yes" "" "0" "" "" "g.38074548C>A" "" "pathogenic" ""
"0000081200" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Stoilov 1998:09497261}, {OMIM601771:0003}" "TaqI+" "G528A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081202" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Stoilov 1998:09497261}, {OMIM601771:0003}" "TaqI+" "G528A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081203" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Stoilov 1998:09497261}, {OMIM601771:0003}" "TaqI+" "G528A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081204" "2" "90" "2" "38298290" "38298299" "dup" "0" "00006" "CYP1B1_000022" "g.38298290_38298299dup" "" "{PMID:Stoilov 1998:09497261}, {OMIM601771:0004}" "NlaIII+" "1546dup10" "" "Germline" "yes" "" "0" "" "" "g.38071147_38071156dup" "" "pathogenic" ""
"0000081205" "1" "90" "2" "38298187" "38298187" "subst" "8.12183E-6" "00006" "CYP1B1_000023" "g.38298187G>A" "" "{PMID:Stoilov 1998:09497261}" "" "C1656T" "" "Germline" "yes" "rs56175199" "0" "" "" "g.38071044G>A" "" "pathogenic" ""
"0000081208" "1" "90" "2" "38298069" "38298095" "dup" "0" "00006" "CYP1B1_000026" "g.38298069_38298095dup" "" "{PMID:Stoilov 1998:09497261}" "BfaI+" "1749dup27 (477fs)" "" "Germline" "yes" "" "0" "" "" "g.38070926_38070952dup" "" "pathogenic" ""
"0000081209" "1" "90" "2" "38298361" "38298361" "subst" "0" "00006" "CYP1B1_000019" "g.38298361G>A" "" "{PMID:Stoilov 1998:09497261}" "" "C1482T" "" "Germline" "yes" "rs56305281" "0" "" "" "g.38071218G>A" "" "pathogenic" ""
"0000081211" "11" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Stoilov 1998:09497261}, {OMIM601771:0003}" "TaqI+" "G528A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081212" "21" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Stoilov 1998:09497261}, {OMIM601771:0003}" "TaqI+" "G528A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081214" "11" "90" "2" "38298361" "38298361" "subst" "0" "00006" "CYP1B1_000019" "g.38298361G>A" "" "{PMID:Stoilov 1998:09497261}" "" "C1482T" "" "Germline" "yes" "rs56305281" "0" "" "" "g.38071218G>A" "" "pathogenic" ""
"0000081215" "1" "90" "2" "38298338" "38298338" "subst" "0.000299394" "00006" "CYP1B1_000020" "g.38298338C>T" "" "{PMID:Stoilov 1998:09497261}" "" "G1505A" "" "Germline" "yes" "rs55989760" "0" "" "" "g.38071195C>T" "" "pathogenic" ""
"0000081216" "11" "90" "2" "38298328" "38298328" "subst" "9.0068E-5" "00006" "CYP1B1_000021" "g.38298328C>T" "" "{PMID:Stoilov 1998:09497261}" "CfoI-" "G1515A" "" "Germline" "yes" "rs56010818" "0" "" "" "g.38071185C>T" "" "pathogenic" ""
"0000081217" "11" "90" "2" "38298290" "38298299" "dup" "0" "00006" "CYP1B1_000022" "g.38298290_38298299dup" "" "{PMID:Stoilov 1998:09497261}, {OMIM601771:0004}" "NlaIII+" "1546dup10" "" "Germline" "yes" "" "0" "" "" "g.38071147_38071156dup" "" "pathogenic" ""
"0000081218" "11" "90" "2" "38298187" "38298187" "subst" "8.12183E-6" "00006" "CYP1B1_000023" "g.38298187G>A" "" "{PMID:Stoilov 1998:09497261}" "" "C1656T" "" "Germline" "yes" "rs56175199" "0" "" "" "g.38071044G>A" "" "pathogenic" ""
"0000081219" "3" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00006" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Stoilov 1998:09497261}" "AciI-" "C1751T" "" "Germline" "yes" "rs28936701" "0" "" "" "g.38070949G>A" "" "pathogenic" ""
"0000081220" "11" "90" "2" "38298069" "38298095" "dup" "0" "00006" "CYP1B1_000026" "g.38298069_38298095dup" "" "{PMID:Stoilov 1998:09497261}" "BfaI+" "1749dup27 (477fs)" "" "Germline" "yes" "" "0" "" "" "g.38070926_38070952dup" "" "pathogenic" ""
"0000081221" "11" "90" "2" "38301669" "38301669" "dup" "0" "00006" "CYP1B1_000015" "g.38301669dup" "" "{PMID:Stoilov 1997:09097971}, {PMID:Stoilov 1998:09497261}, {OMIM601771:0002}" "" "1209insC" "not in 470 control chromosomes" "Germline" "yes" "" "0" "" "" "g.38074526dup" "" "pathogenic" ""
"0000081222" "11" "90" "2" "38298453" "38298454" "del" "0" "00006" "CYP1B1_000016" "g.(38297864_38298453)_38298454del" "" "{PMID:Stoilov 1997:09097971}, {PMID:Stoilov 1998:09497261}" "" "large deletion" "not in 470 control chromosomes; deletion from intron 2 to in exon 3" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000081223" "1" "90" "2" "38298421" "38298433" "del" "0.000228025" "00006" "CYP1B1_000017" "g.38298421_38298433del" "" "{PMID:Stoilov 1997:09097971}, {PMID:Stoilov 1998:09497261}, {OMIM601771:0001}" "XhoI-" "1410-1422del (355fs)" "not in 470 control chromosomes" "Germline" "yes" "" "0" "" "" "g.38071278_38071290del" "" "pathogenic" ""
"0000081224" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081225" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081226" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081227" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081228" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081229" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081230" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081231" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081232" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081233" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081234" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081235" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081236" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081237" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081238" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081239" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081240" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081353" "1" "50" "2" "38302177" "38302177" "subst" "0.319463" "01294" "CYP1B1_001001" "g.38302177C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "" "reference haplotype CYP1B1*2" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "VUS" ""
"0000081354" "1" "50" "2" "38302390" "38302390" "subst" "0.312614" "01294" "CYP1B1_000002" "g.38302390G>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "" "reference haplotype CYP1B1*5" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000081355" "1" "50" "2" "38302390" "38302390" "subst" "0.312614" "01294" "CYP1B1_000002" "g.38302390G>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "" "reference haplotype CYP1B1*6" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000081356" "1" "50" "2" "38302177" "38302177" "subst" "0.319463" "01294" "CYP1B1_001001" "g.38302177C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "" "reference haplotype CYP1B1*6" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "VUS" ""
"0000081357" "1" "50" "2" "38302390" "38302390" "subst" "0.312614" "01294" "CYP1B1_000002" "g.38302390G>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "" "reference haplotype CYP1B1*7" "Germline" "" "rs10012" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000081358" "1" "50" "2" "38298169" "38298169" "subst" "0.00419475" "01294" "CYP1B1_000007" "g.38298169G>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "4360C>G" "reference haplotype CYP1B1*7" "Germline" "" "rs4986888" "0" "" "" "g.38071026G>C" "" "VUS" ""
"0000081359" "1" "50" "2" "38302177" "38302177" "subst" "0.319463" "01294" "CYP1B1_001001" "g.38302177C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "" "reference haplotype CYP1B1*7" "Germline" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "VUS" ""
"0000081360" "1" "50" "2" "38298176" "38298176" "subst" "0" "01294" "CYP1B1_000008" "g.38298176C>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "4353G>C" "reference haplotype CYP1B1*8" "Germline" "" "rs4986887" "0" "" "" "g.38071033C>G" "" "VUS" ""
"0000081361" "1" "11" "2" "38298150" "38298150" "subst" "0.634263" "01294" "CYP1B1_001002" "g.38298150A>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "4379C>T" "reference haplotype CYP1B1*8" "Germline" "" "rs1056837" "0" "" "" "g.38071007A>G" "" "benign" ""
"0000081362" "2" "90" "2" "38298421" "38298433" "del" "0.000228025" "00006" "CYP1B1_000017" "g.38298421_38298433del" "" "{PMID:Stoilov 1997:09097971}, {PMID:Stoilov 1998:09497261}, {OMIM601771:0001}" "" "1410-1422del (355fs)" "not in 470 control chromosomes" "Germline" "yes" "" "0" "" "" "g.38071278_38071290del" "" "pathogenic" ""
"0000081363" "21" "90" "2" "38301669" "38301669" "dup" "0" "00006" "CYP1B1_000015" "g.38301669dup" "" "{PMID:Stoilov 1997:09097971}, {PMID:Stoilov 1998:09497261}, {OMIM601771:0002}" "" "1209insC" "not in 470 control chromosomes" "Germline" "yes" "" "0" "" "" "g.38074526dup" "" "pathogenic" ""
"0000081364" "1" "50" "2" "38298176" "38298176" "subst" "0" "00006" "CYP1B1_000008" "g.38298176C>G" "" "Rahman et al., unpublished" "" "4353G>C" "" "Unknown" "?" "" "0" "" "" "g.38071033C>G" "" "VUS" ""
"0000081365" "1" "50" "2" "38298150" "38298150" "subst" "0.634263" "00006" "CYP1B1_001002" "g.38298150A>G" "" "Rahman et al., unpublished" "" "4379C>T" "" "Unknown" "?" "" "0" "" "" "g.38071007A>G" "" "VUS" ""
"0000081366" "20" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00006" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Stoilov 1998:09497261}" "AciI-" "C1751T" "" "Germline" "yes" "rs28936701" "0" "" "" "g.38070949G>A" "" "pathogenic" ""
"0000081368" "21" "90" "2" "38298290" "38298299" "dup" "0" "00006" "CYP1B1_000022" "g.38298290_38298299dup" "" "{PMID:Stoilov 1998:09497261}, {OMIM601771:0004}" "NlaIII+" "1546dup10" "" "Germline" "yes" "" "0" "" "" "g.38071147_38071156dup" "" "pathogenic" ""
"0000081369" "21" "90" "2" "38302030" "38302031" "ins" "0" "00006" "CYP1B1_000013" "g.38302030_38302031insA" "" "{PMID:Stoilov 1998:09497261}" "XhoI-" "847insT" "" "Germline" "yes" "" "0" "" "" "g.38074887_38074888insA" "" "pathogenic" ""
"0000081371" "11" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00006" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Stoilov 1998:09497261}" "AciI_" "C1751T" "" "Germline" "yes" "rs28936701" "0" "" "" "g.38070949G>A" "" "pathogenic" ""
"0000081374" "21" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Stoilov 1998:09497261}, {OMIM601771:0003}" "TaqI+" "G528A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081375" "11" "90" "2" "38301691" "38301691" "subst" "0" "00006" "CYP1B1_000014" "g.38301691C>A" "" "{PMID:Stoilov 1998:09497261}" "" "G1187T" "" "Germline" "yes" "" "0" "" "" "g.38074548C>A" "" "pathogenic" ""
"0000081377" "21" "90" "2" "38298290" "38298299" "dup" "0" "00006" "CYP1B1_000022" "g.38298290_38298299dup" "" "{PMID:Stoilov 1998:09497261}, {OMIM601771:0004}" "NlaIII+" "1546dup10" "" "Germline" "yes" "" "0" "" "" "g.38071147_38071156dup" "" "pathogenic" ""
"0000081378" "2" "99" "2" "38298153" "38298153" "del" "0" "00006" "CYP1B1_000024" "g.38298153del" "" "{PMID:Stoilov 1998:09497261}" "" "G1691del" "" "Germline" "yes" "" "0" "" "" "g.38071010del" "" "pathogenic" ""
"0000081379" "21" "90" "2" "38298328" "38298328" "subst" "9.0068E-5" "00006" "CYP1B1_000021" "g.38298328C>T" "" "{PMID:Stoilov 1998:09497261}" "CfoI-" "G1515A" "" "Germline" "yes" "rs56010818" "0" "" "" "g.38071185C>T" "" "pathogenic" ""
"0000081380" "21" "90" "2" "38298290" "38298299" "dup" "0" "00006" "CYP1B1_000022" "g.38298290_38298299dup" "" "{PMID:Stoilov 1998:09497261}, {OMIM601771:0004}" "NlaIII+" "1546dup10" "" "Germline" "yes" "" "0" "" "" "g.38071147_38071156dup" "" "pathogenic" ""
"0000081381" "21" "90" "2" "38298187" "38298187" "subst" "8.12183E-6" "00006" "CYP1B1_000023" "g.38298187G>A" "" "{PMID:Stoilov 1998:09497261}" "" "C1656T" "" "Germline" "yes" "rs56175199" "0" "" "" "g.38071044G>A" "" "pathogenic" ""
"0000081383" "21" "90" "2" "38298069" "38298095" "dup" "0" "00006" "CYP1B1_000026" "g.38298069_38298095dup" "" "{PMID:Stoilov 1998:09497261}" "BfaI+" "1749dup27 (477fs)" "" "Germline" "yes" "" "0" "" "" "g.38070926_38070952dup" "" "pathogenic" ""
"0000081384" "21" "90" "2" "38301669" "38301669" "dup" "0" "00006" "CYP1B1_000015" "g.38301669dup" "" "{PMID:Stoilov 1997:09097971}, {PMID:Stoilov 1998:09497261}, {OMIM601771:0002}" "" "1209insC" "not in 470 control chromosomes" "Germline" "yes" "" "0" "" "" "g.38074526dup" "" "pathogenic" ""
"0000081385" "21" "90" "2" "38298453" "38298454" "del" "0" "00006" "CYP1B1_000016" "g.(38297864_38298453)_38298454del" "" "{PMID:Stoilov 1997:09097971}, {PMID:Stoilov 1998:09497261}" "" "large deletion" "not in 470 control chromosomes; deletion from intron 2 to in exon 3" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000081386" "2" "90" "2" "38298421" "38298433" "del" "0.000228025" "00006" "CYP1B1_000017" "g.38298421_38298433del" "" "{PMID:Stoilov 1997:09097971}, {PMID:Stoilov 1998:09497261}, {OMIM601771:0001}" "XhoI-" "1410-1422del (355fs)" "not in 470 control chromosomes" "Germline" "yes" "" "0" "" "" "g.38071278_38071290del" "" "pathogenic" ""
"0000081387" "2" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081388" "2" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081389" "2" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081390" "2" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081391" "2" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081392" "2" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081393" "2" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081394" "2" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081395" "2" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081396" "2" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081397" "2" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081398" "2" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081399" "2" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081400" "2" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081401" "2" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081402" "2" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00006" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Bejjani 1998:09463332}, {OMIM601771:0003}" "" "3987G>A" "" "Germline" "yes" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000081419" "1" "70" "2" "38302177" "38302177" "subst" "0.319463" "00006" "CYP1B1_001001" "g.38302177C>A" "" "{PMID:Aklillu 2002:11854439}" "" "" "expression cloning yeast, normal expression/folding, 2-5 fold reduced clearance (estradiol)" "In vitro (cloned)" "" "rs1056827" "0" "" "" "g.38075034C>A" "" "NA" ""
"0000081420" "2" "99" "2" "38298290" "38298299" "dup" "0" "00006" "CYP1B1_000022" "g.38298290_38298299dup" "" "{PMID:Stoilov 1998:09497261}" "NlaIII" "1546dup10" "" "Germline" "yes" "" "0" "" "" "g.38071147_38071156dup" "" "pathogenic" ""
"0000084863" "11" "70" "2" "38298290" "38298299" "dup" "0" "01239" "CYP1B1_000022" "g.38298290_38298299dup" "" "" "" "1208insCCTCATGCCA" "" "Germline" "" "" "0" "" "" "g.38071147_38071156dup" "" "likely pathogenic" ""
"0000084864" "21" "70" "2" "38298338" "38298338" "subst" "0.000299394" "01239" "CYP1B1_000020" "g.38298338C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38071195C>T" "" "likely pathogenic" ""
"0000084865" "3" "70" "2" "38301998" "38301998" "del" "0" "01239" "CYP1B1_001143" "g.38301998del" "" "" "" "535delG" "" "Germline" "" "" "0" "" "" "g.38074855del" "" "likely pathogenic" ""
"0000084866" "11" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "01239" "CYP1B1_000025" "g.38298092G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38070949G>A" "" "pathogenic" ""
"0000084867" "2" "70" "2" "38302375" "38302375" "subst" "0" "01239" "CYP1B1_001144" "g.38302375C>T" "" "" "" "38075228C>T" "" "Germline" "" "" "0" "" "" "g.38075232C>T" "" "likely pathogenic" ""
"0000084870" "2" "50" "2" "38302390" "38302390" "subst" "0.312614" "01239" "CYP1B1_000002" "g.38302390G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38075247G>C" "" "VUS" ""
"0000084871" "2" "50" "2" "38302177" "38302177" "subst" "0.319463" "01239" "CYP1B1_001001" "g.38302177C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38075034C>A" "" "VUS" ""
"0000084872" "11" "50" "2" "38298203" "38298203" "subst" "0" "01239" "CYP1B1_000003" "g.38298203G>C" "" "" "" "" "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" "" "" "g.38071060G>C" "" "VUS" ""
"0000132491" "3" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00006" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38070949G>A" "" "pathogenic" ""
"0000132492" "3" "90" "2" "38298197" "38298197" "subst" "4.06128E-6" "00006" "CYP1B1_001084" "g.38298197A>G" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38071054A>G" "" "pathogenic" ""
"0000132493" "3" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00006" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38070949G>A" "" "pathogenic" ""
"0000132494" "3" "90" "2" "38298290" "38298299" "dup" "0" "00006" "CYP1B1_000022" "g.38298290_38298299dup" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38071147_38071156dup" "" "pathogenic" ""
"0000132495" "3" "90" "2" "38298328" "38298328" "subst" "9.0068E-5" "00006" "CYP1B1_000021" "g.38298328C>T" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38071185C>T" "" "pathogenic" ""
"0000132496" "3" "90" "2" "38298328" "38298328" "subst" "9.0068E-5" "00006" "CYP1B1_000021" "g.38298328C>T" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38071185C>T" "" "pathogenic" ""
"0000132497" "1" "90" "2" "38301796" "38301796" "dup" "0" "00006" "CYP1B1_001145" "g.38301796dup" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38074653dup" "" "pathogenic" ""
"0000132498" "3" "90" "2" "38298166" "38298166" "subst" "1.2182E-5" "00006" "CYP1B1_001022" "g.38298166C>T" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38071023C>T" "" "pathogenic" ""
"0000132499" "3" "90" "2" "38302291" "38302291" "subst" "0.00353627" "00006" "CYP1B1_001042" "g.38302291A>T" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38075148A>T" "" "pathogenic" ""
"0000132500" "3" "90" "2" "38298394" "38298394" "subst" "0.00595164" "00006" "CYP1B1_001010" "g.38298394C>T" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38071251C>T" "" "pathogenic" ""
"0000132501" "3" "90" "2" "38298328" "38298328" "subst" "9.0068E-5" "00006" "CYP1B1_000021" "g.38298328C>T" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38071185C>T" "" "pathogenic" ""
"0000132502" "3" "90" "2" "38298328" "38298328" "subst" "9.0068E-5" "00006" "CYP1B1_000021" "g.38298328C>T" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38071185C>T" "" "pathogenic" ""
"0000132503" "3" "90" "2" "38298328" "38298328" "subst" "9.0068E-5" "00006" "CYP1B1_000021" "g.38298328C>T" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38071185C>T" "" "pathogenic" ""
"0000132504" "3" "90" "2" "38298328" "38298328" "subst" "9.0068E-5" "00006" "CYP1B1_000021" "g.38298328C>T" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38071185C>T" "" "pathogenic" ""
"0000132505" "3" "90" "2" "38298173" "38298173" "del" "0" "00006" "CYP1B1_001147" "g.38298173del" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38071030del" "" "pathogenic" ""
"0000132506" "3" "90" "2" "38298328" "38298328" "subst" "9.0068E-5" "00006" "CYP1B1_000021" "g.38298328C>T" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38071185C>T" "" "pathogenic" ""
"0000132507" "3" "90" "2" "38298328" "38298328" "subst" "9.0068E-5" "00006" "CYP1B1_000021" "g.38298328C>T" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38071185C>T" "" "pathogenic" ""
"0000132508" "3" "90" "2" "38298328" "38298328" "subst" "9.0068E-5" "00006" "CYP1B1_000021" "g.38298328C>T" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38071185C>T" "" "pathogenic" ""
"0000132509" "1" "90" "2" "38302423" "38302423" "subst" "0" "00006" "CYP1B1_001146" "g.38302423G>A" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38075280G>A" "" "pathogenic" ""
"0000132510" "3" "90" "2" "38298328" "38298328" "subst" "9.0068E-5" "00006" "CYP1B1_000021" "g.38298328C>T" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38071185C>T" "" "pathogenic" ""
"0000132511" "3" "90" "2" "38298328" "38298328" "subst" "9.0068E-5" "00006" "CYP1B1_000021" "g.38298328C>T" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38071185C>T" "" "pathogenic" ""
"0000132512" "3" "90" "2" "38298328" "38298328" "subst" "9.0068E-5" "00006" "CYP1B1_000021" "g.38298328C>T" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38071185C>T" "" "pathogenic" ""
"0000132513" "3" "90" "2" "38298328" "38298328" "subst" "9.0068E-5" "00006" "CYP1B1_000021" "g.38298328C>T" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38071185C>T" "" "pathogenic" ""
"0000132514" "2" "90" "2" "38301847" "38301847" "subst" "0.0110195" "00006" "CYP1B1_001024" "g.38301847C>T" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38074704C>T" "" "pathogenic" ""
"0000132515" "2" "90" "2" "38298394" "38298394" "subst" "0.00595164" "00006" "CYP1B1_001010" "g.38298394C>T" "" "{PMID:Rauf 2016:27508083}, {DOI:Rauf 2016:10.1038/hgv.2016.21}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38071251C>T" "" "pathogenic" ""
"0000248513" "0" "10" "2" "38298150" "38298150" "subst" "0.634263" "02325" "CYP1B1_001002" "g.38298150A>G" "" "" "" "CYP1B1(NM_000104.4):c.1347T>C (p.D449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38071007A>G" "" "benign" ""
"0000254403" "0" "30" "2" "38298419" "38298419" "subst" "0.00091629" "01943" "CYP1B1_001004" "g.38298419A>G" "" "" "" "CYP1B1(NM_000104.3):c.1078T>C (p.F360L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38071276A>G" "" "likely benign" ""
"0000267240" "0" "10" "2" "38298203" "38298203" "subst" "0.631925" "02325" "CYP1B1_001148" "g.38298203C>G" "" "" "" "CYP1B1(NM_000104.4):c.1294G>C (p.V432L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" ""
"0000326940" "0" "50" "2" "38298394" "38298394" "subst" "0.00595164" "01804" "CYP1B1_001010" "g.38298394C>T" "" "" "" "CYP1B1(NM_000104.3):c.1102G>A (p.(Arg368His)), CYP1B1(NM_000104.3):c.1103G>A (p.R368Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38071251C>T" "" "VUS" ""
"0000326941" "0" "50" "2" "38301564" "38301564" "subst" "0" "01804" "CYP1B1_001149" "g.38301564G>A" "" "" "" "CYP1B1(NM_000104.3):c.968C>T (p.(Thr323Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38074421G>A" "" "VUS" ""
"0000438555" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "01244" "CYP1B1_000012" "g.38302350C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000515777" "0" "90" "2" "38298290" "38298299" "dup" "0" "01943" "CYP1B1_000022" "g.38298290_38298299dup" "" "" "" "CYP1B1(NM_000104.3):c.1209_1210insTCATGCCACC (p.H403_H404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38071147_38071156dup" "" "pathogenic" ""
"0000515778" "0" "30" "2" "38298394" "38298394" "subst" "0.00595164" "01943" "CYP1B1_001010" "g.38298394C>T" "" "" "" "CYP1B1(NM_000104.3):c.1102G>A (p.(Arg368His)), CYP1B1(NM_000104.3):c.1103G>A (p.R368Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38071251C>T" "" "likely benign" ""
"0000515779" "0" "30" "2" "38301847" "38301847" "subst" "0.0110195" "01804" "CYP1B1_001024" "g.38301847C>T" "" "" "" "CYP1B1(NM_000104.3):c.685G>A (p.(Glu229Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38074704C>T" "" "likely benign" ""
"0000515780" "0" "10" "2" "38301938" "38301938" "subst" "0.000966379" "01943" "CYP1B1_001150" "g.38301938G>A" "" "" "" "CYP1B1(NM_000104.3):c.594C>T (p.R198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38074795G>A" "" "benign" ""
"0000515781" "0" "50" "2" "38302291" "38302291" "subst" "0.00353627" "01943" "CYP1B1_001042" "g.38302291A>T" "" "" "" "CYP1B1(NM_000104.3):c.241T>A (p.Y81N, p.L81I), CYP1B1(NM_000104.4):c.241T>A (p.(Tyr81Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38075148A>T" "" "VUS" ""
"0000607916" "0" "30" "2" "38298002" "38298002" "subst" "4.06062E-6" "01943" "FAM82A1_000002" "g.38298002C>T" "" "" "" "CYP1B1(NM_000104.3):c.1495G>A (p.G499R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38070859C>T" "" "likely benign" ""
"0000607917" "0" "50" "2" "38301982" "38301982" "subst" "6.48298E-6" "01943" "CYP1B1_001151" "g.38301982C>A" "" "" "" "CYP1B1(NM_000104.3):c.550G>T (p.G184W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38074839C>A" "" "VUS" ""
"0000607919" "0" "30" "2" "38302291" "38302291" "subst" "0.00353627" "02330" "CYP1B1_001042" "g.38302291A>T" "" "" "" "CYP1B1(NM_000104.3):c.241T>A (p.Y81N, p.L81I), CYP1B1(NM_000104.4):c.241T>A (p.(Tyr81Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38075148A>T" "" "likely benign" ""
"0000607920" "0" "30" "2" "38302540" "38302540" "subst" "4.17401E-6" "01943" "CYP1B1_001153" "g.38302540C>T" "" "" "" "CYP1B1(NM_000104.3):c.-1-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38075397C>T" "" "likely benign" ""
"0000650589" "1" "50" "2" "38298394" "38298394" "subst" "0.00595164" "03575" "CYP1B1_001010" "g.38298394C>T" "105/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 105 heterozygous; {DB:CLININrs79204362}" "Germline" "" "rs79204362" "0" "" "" "g.38071251C>T" "" "VUS" ""
"0000650590" "1" "50" "2" "38301574" "38301574" "subst" "0.000291313" "03575" "CYP1B1_001020" "g.38301574C>A" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs72549382}" "Germline" "" "rs72549382" "0" "" "" "g.38074431C>A" "" "VUS" ""
"0000650591" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "03575" "CYP1B1_000012" "g.38302350C>T" "8/2755 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs28936700}" "Germline" "" "rs28936700" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000650592" "1" "50" "2" "38302377" "38302377" "subst" "0.000305902" "03575" "CYP1B1_001154" "g.38302377G>A" "4/2756 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs201824781}" "Germline" "" "rs201824781" "0" "" "" "g.38075234G>A" "" "VUS" ""
"0000654626" "0" "50" "2" "38301573" "38301573" "subst" "8.20446E-6" "01943" "CYP1B1_001155" "g.38301573A>G" "" "" "" "CYP1B1(NM_000104.3):c.959T>C (p.L320P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38074430A>G" "" "VUS" ""
"0000659578" "3" "90" "2" "38298288" "38298288" "dup" "0" "01164" "CYP1B1_000022" "g.38298288dup" "" "" "" "" "ACMG: PVS1,PM2,PM3,PP5; Stoilov et al. 1998. Am 62: 573; Garcia-Anton et al. 2017. PLoS 12: 0176386; Prokudin et al. 2014. EurJHumGenet 22: 907; Reis et al. 2016. Clin 90: 378\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs587778873" "0" "" "" "" "" "pathogenic" "ACMG"
"0000660113" "3" "50" "2" "38301727" "38301735" "del" "0" "01164" "CYP1B1_001009" "g.38301727_38301735del" "" "" "" "" "ACMG grading: PM2,PM4,PP1; Bejjani et al. 2000. Hum Mol Genet 12: 367" "Germline" "" "rs751821598" "0" "" "" "g.38074584_38074592del" "" "VUS" "ACMG"
"0000660670" "0" "50" "2" "38298394" "38298394" "subst" "0.00595164" "01164" "CYP1B1_001010" "g.38298394C>T" "" "" "" "" "Choudhary et al. 2008. Pharmacogenet Genomics 18: 665; López-Garrido et al. 2010. Clin Genet 77: 70; Kabra et al. 2017. Hum Genet 136: 941" "Germline" "" "rs79204362" "0" "" "" "g.38071251C>T" "" "VUS" ""
"0000660671" "0" "50" "2" "38298071" "38298071" "subst" "0" "01164" "CYP1B1_001156" "g.38298071A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38070928A>G" "" "VUS" ""
"0000669639" "3" "50" "2" "38298394" "38298394" "subst" "0.00595164" "03575" "CYP1B1_001010" "g.38298394C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 homozygous; {DB:CLININrs79204362}" "Germline" "" "rs79204362" "0" "" "" "g.38071251C>T" "" "VUS" ""
"0000676626" "0" "50" "2" "38302350" "38302350" "subst" "0.00033359" "01804" "CYP1B1_000012" "g.38302350C>T" "" "" "" "CYP1B1(NM_000104.3):c.181G>A (p.(Gly61Glu)), CYP1B1(NM_000104.3):c.182G>A (p.G61E, p.R61Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000688748" "0" "50" "2" "38301888" "38301888" "subst" "0.000135829" "01943" "CYP1B1_001032" "g.38301888C>A" "" "" "" "CYP1B1(NM_000104.3):c.644G>T (p.R215L, p.S215I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000688749" "0" "90" "2" "38302350" "38302350" "subst" "0.00033359" "02330" "CYP1B1_000012" "g.38302350C>T" "" "" "" "CYP1B1(NM_000104.3):c.181G>A (p.(Gly61Glu)), CYP1B1(NM_000104.3):c.182G>A (p.G61E, p.R61Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000718760" "0" "50" "2" "38298069" "38298095" "dup" "0" "02327" "CYP1B1_000026" "g.38298069_38298095dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000718761" "0" "10" "2" "38298139" "38298139" "subst" "0.153766" "02327" "CYP1B1_000004" "g.38298139T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000718762" "0" "10" "2" "38298150" "38298150" "subst" "0.634263" "02327" "CYP1B1_001002" "g.38298150A>G" "" "" "" "CYP1B1(NM_000104.4):c.1347T>C (p.D449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000718763" "0" "90" "2" "38298421" "38298433" "del" "0.000228025" "02329" "CYP1B1_000017" "g.38298421_38298433del" "" "" "" "CYP1B1(NM_000104.3):c.1064_1076delGAGTGCAGGCAGA (p.R355Hfs*69)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000718764" "0" "50" "2" "38301888" "38301888" "subst" "0.000135829" "02329" "CYP1B1_001032" "g.38301888C>A" "" "" "" "CYP1B1(NM_000104.3):c.644G>T (p.R215L, p.S215I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000718765" "0" "90" "2" "38301998" "38301998" "del" "0" "02330" "CYP1B1_001031" "g.38301998del" "" "" "" "CYP1B1(NM_000104.3):c.535delG (p.A179Rfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000718766" "0" "10" "2" "38302177" "38302177" "subst" "0.319463" "02327" "CYP1B1_001001" "g.38302177C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000718767" "0" "90" "2" "38302350" "38302350" "subst" "0.00033359" "01943" "CYP1B1_000012" "g.38302350C>T" "" "" "" "CYP1B1(NM_000104.3):c.181G>A (p.(Gly61Glu)), CYP1B1(NM_000104.3):c.182G>A (p.G61E, p.R61Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000718768" "0" "70" "2" "38302377" "38302377" "subst" "0.000305902" "01943" "CYP1B1_001154" "g.38302377G>A" "" "" "" "CYP1B1(NM_000104.3):c.155C>T (p.P52L), CYP1B1(NM_000104.4):c.155C>T (p.(Pro52Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000718769" "0" "10" "2" "38302390" "38302390" "subst" "0.312614" "02327" "CYP1B1_000002" "g.38302390G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000718770" "0" "10" "2" "38302544" "38302544" "subst" "0.293226" "02327" "CYP1B1_001005" "g.38302544G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000730377" "3" "90" "2" "38302094" "38302103" "del" "0" "00000" "CYP1B1_001008" "g.38302094_38302103del" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38074951_38074960del" "" "pathogenic (recessive)" ""
"0000730378" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730379" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730380" "3" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00000" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070949G>A" "" "pathogenic (recessive)" ""
"0000730381" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730382" "3" "90" "2" "38298421" "38298433" "del" "0.000228025" "00000" "CYP1B1_000017" "g.38298421_38298433del" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38071278_38071290del" "" "pathogenic (recessive)" ""
"0000730383" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730384" "3" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00000" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070949G>A" "" "pathogenic (recessive)" ""
"0000730385" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730386" "3" "90" "2" "38301776" "38301776" "subst" "0" "00000" "CYP1B1_001127" "g.38301776G>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38074633G>T" "" "pathogenic (recessive)" ""
"0000730387" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730388" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730389" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730390" "3" "90" "2" "38302094" "38302103" "del" "0" "00000" "CYP1B1_001008" "g.38302094_38302103del" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38074951_38074960del" "" "pathogenic (recessive)" ""
"0000730391" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730392" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730393" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730394" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730395" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730396" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730397" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730398" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730399" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730400" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730401" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730402" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730403" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730404" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730405" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730406" "3" "90" "2" "38297942" "38297942" "subst" "0" "00000" "CYP1B1_001130" "g.38297942T>C" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070799T>C" "" "pathogenic (recessive)" ""
"0000730407" "3" "90" "2" "38298043" "38298043" "subst" "0" "00000" "CYP1B1_001129" "g.38298043G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070900G>A" "" "pathogenic (recessive)" ""
"0000730408" "3" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00000" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070949G>A" "" "pathogenic (recessive)" ""
"0000730409" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730410" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730411" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730412" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730413" "3" "90" "2" "38297962" "38297981" "del" "0" "00000" "CYP1B1_001078" "g.38297962_38297981del" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070819_38070838del" "" "pathogenic (recessive)" ""
"0000730414" "3" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00000" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070949G>A" "" "pathogenic (recessive)" ""
"0000730415" "3" "90" "2" "38301822" "38301822" "subst" "0" "00000" "CYP1B1_001159" "g.38301822G>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38074679G>T" "" "pathogenic (recessive)" ""
"0000730416" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730417" "3" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00000" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070949G>A" "" "pathogenic (recessive)" ""
"0000730418" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730419" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730420" "3" "90" "2" "38297962" "38297981" "del" "0" "00000" "CYP1B1_001078" "g.38297962_38297981del" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070819_38070838del" "" "pathogenic (recessive)" ""
"0000730421" "3" "90" "2" "38301546" "38301546" "subst" "0" "00000" "CYP1B1_001080" "g.38301546C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38074403C>T" "" "pathogenic (recessive)" ""
"0000730422" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730423" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730424" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730425" "3" "90" "2" "38298043" "38298043" "subst" "0" "00000" "CYP1B1_001129" "g.38298043G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070900G>A" "" "pathogenic (recessive)" ""
"0000730426" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730427" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730428" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730429" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730430" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730431" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730432" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730433" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730434" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730435" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730436" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730437" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730438" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730439" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730440" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730441" "3" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00000" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070949G>A" "" "pathogenic (recessive)" ""
"0000730442" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730443" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730444" "3" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00000" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070949G>A" "" "pathogenic (recessive)" ""
"0000730445" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730446" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730447" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730448" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730449" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730450" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730451" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730452" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730453" "3" "90" "2" "38298377" "38298377" "subst" "0" "00000" "CYP1B1_001158" "g.38298377C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38071234C>T" "" "pathogenic (recessive)" ""
"0000730454" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730455" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730456" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730457" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730458" "3" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00000" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070949G>A" "" "pathogenic (recessive)" ""
"0000730459" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730460" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730461" "1" "90" "2" "38302094" "38302103" "del" "0" "00000" "CYP1B1_001008" "g.38302094_38302103del" "" "{PMID:Alsaif 2019:29556725}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.38074951_38074960del" "" "pathogenic (recessive)" ""
"0000730462" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730463" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730464" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730465" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730466" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730467" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730468" "3" "70" "2" "38302137" "38302137" "subst" "0" "00000" "CYP1B1_001160" "g.38302137A>G" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38074994A>G" "" "likely pathogenic (recessive)" ""
"0000730469" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730470" "3" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00000" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070949G>A" "" "pathogenic (recessive)" ""
"0000730471" "3" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00000" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070949G>A" "" "pathogenic (recessive)" ""
"0000730472" "3" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00000" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070949G>A" "" "pathogenic (recessive)" ""
"0000730473" "3" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00000" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070949G>A" "" "pathogenic (recessive)" ""
"0000730474" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730475" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730476" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730477" "3" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00000" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070949G>A" "" "pathogenic (recessive)" ""
"0000730478" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730479" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730480" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730481" "3" "50" "2" "38298394" "38298394" "subst" "0.00595164" "00000" "CYP1B1_001010" "g.38298394C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "low penetrance variant" "Germline" "" "" "0" "" "" "g.38071251C>T" "" "VUS (!)" ""
"0000730482" "3" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730492" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic" ""
"0000730493" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730494" "1" "90" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38075207C>T" "" "pathogenic (recessive)" ""
"0000730495" "3" "50" "2" "38298162" "38298162" "subst" "0" "00000" "CYP1B1_001157" "g.38298162G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38071019G>A" "" "VUS" ""
"0000730496" "2" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00000" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070949G>A" "" "pathogenic (recessive)" ""
"0000730497" "2" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00000" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070949G>A" "" "pathogenic (recessive)" ""
"0000730498" "2" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00000" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070949G>A" "" "pathogenic (recessive)" ""
"0000730499" "2" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00000" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070949G>A" "" "pathogenic (recessive)" ""
"0000730500" "2" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00000" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070949G>A" "" "pathogenic (recessive)" ""
"0000730501" "2" "90" "2" "38298092" "38298092" "subst" "4.87282E-5" "00000" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.38070949G>A" "" "pathogenic (recessive)" ""
"0000730502" "2" "50" "2" "38298394" "38298394" "subst" "0.00595164" "00000" "CYP1B1_001010" "g.38298394C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "low penetrance variant" "Germline" "" "" "0" "" "" "g.38071251C>T" "" "VUS (!)" ""
"0000730503" "2" "50" "2" "38298394" "38298394" "subst" "0.00595164" "00000" "CYP1B1_001010" "g.38298394C>T" "" "{PMID:Alsaif 2019:29556725}" "" "" "low penetrance variant" "Germline" "" "" "0" "" "" "g.38071251C>T" "" "VUS (!)" ""
"0000797372" "0" "70" "2" "38298358" "38298358" "subst" "0" "00000" "CYP1B1_001162" "g.38298358T>C" "" "{PMID:Patel 2019:30653986}" "" "c.1139A-->G, c.182G-->A; p.Tyr380Cys, p.Gly61Glu*" "no Sanger sequencing; potentially compound heterozygous" "Germline" "?" "" "0" "" "" "g.38071215T>C" "" "likely pathogenic" ""
"0000797373" "0" "70" "2" "38298394" "38298394" "subst" "0.00595164" "00000" "CYP1B1_001010" "g.38298394C>T" "" "{PMID:Patel 2019:30653986}" "" "c.1103G-->A, c.1064_1076del; p.Arg368His, p.Arg355Hisfs*69" "no Sanger sequencing; potentially compound heterozygous" "Germline" "?" "" "0" "" "" "g.38071251C>T" "" "likely pathogenic" ""
"0000797374" "0" "70" "2" "38298394" "38298394" "subst" "0.00595164" "00000" "CYP1B1_001010" "g.38298394C>T" "" "{PMID:Patel 2019:30653986}" "" "c.1103G-->A, c.290T-->C; p.Arg368His, p.Leu97Pro" "no Sanger sequencing; potentially compound heterozygous" "Germline" "?" "" "0" "" "" "g.38071251C>T" "" "likely pathogenic" ""
"0000797375" "21" "70" "2" "38298394" "38298394" "subst" "0.00595164" "00000" "CYP1B1_001010" "g.38298394C>T" "" "{PMID:Patel 2019:30653986}" "" "c.1103G-->A, c.1169G-->A; p.Arg368His, p.Arg390His" "confirmed with Sanger sequencing; compound heterozygous" "Germline" "yes" "" "0" "" "" "g.38071251C>T" "" "likely pathogenic" ""
"0000797376" "3" "70" "2" "38298394" "38298394" "subst" "0.00595164" "00000" "CYP1B1_001010" "g.38298394C>T" "" "{PMID:Patel 2019:30653986}" "" "c.1103G-->A; p.Arg368His" "no Sanger sequencing; homozygous" "Germline" "?" "" "0" "" "" "g.38071251C>T" "" "likely pathogenic" ""
"0000797377" "3" "70" "2" "38302361" "38302361" "subst" "0.000166406" "00000" "CYP1B1_001014" "g.38302361C>T" "" "{PMID:Patel 2019:30653986}" "" "c.171G-->A; p.Trp57*" "no Sanger sequencing; homozygous" "Germline" "?" "" "0" "" "" "g.38075218C>T" "" "likely pathogenic" ""
"0000797378" "0" "70" "2" "38301669" "38301669" "dup" "0" "00000" "CYP1B1_000015" "g.38301669dup" "" "{PMID:Patel 2019:30653986}" "" "c.868dupC, c.862delinsCC, c.317C-->A; p.Arg290Profs*37, p.Ala288Profs*39, p.Ala106Asp" "no Sanger sequencing; potentially compound heterozygous" "Germline" "?" "" "0" "" "" "g.38074526dup" "" "likely pathogenic" ""
"0000797379" "3" "70" "2" "38301670" "38301670" "delins" "0" "00000" "CYP1B1_001163" "g.38301670delinsGG" "" "{PMID:Patel 2019:30653986}" "" "c.862delinsCC; p.Ala288Profs*39" "no Sanger sequencing; homozygous" "Germline" "?" "" "0" "" "" "g.38074527delinsGG" "" "likely pathogenic" ""
"0000797380" "3" "70" "2" "38298092" "38298092" "subst" "4.87282E-5" "00000" "CYP1B1_000025" "g.38298092G>A" "" "{PMID:Patel 2019:30653986}" "" "c.1405C-->T; p.Arg469Trp" "no Sanger sequencing; homozygous" "Germline" "?" "" "0" "" "" "g.38070949G>A" "" "likely pathogenic" ""
"0000797381" "0" "70" "2" "38298338" "38298338" "subst" "0.000299394" "00000" "CYP1B1_000020" "g.38298338C>T" "" "{PMID:Patel 2019:30653986}" "" "c.1159G-->A, c.749_750delins13, c.745_746delinsC; p.Glu387Lys, p.Phe250Trpfs*4, p.Tyr249Profs*29" "no Sanger sequencing; potentially compound heterozygous" "Germline" "?" "" "0" "" "" "g.38071195C>T" "" "likely pathogenic" ""
"0000797382" "0" "70" "2" "38298350" "38298350" "subst" "0" "00000" "CYP1B1_001161" "g.38298350C>T" "" "{PMID:Patel 2019:30653986}" "" "c.1147G-->A, c.171G-->A; p.Ala383Thr, p.Trp57*" "no Sanger sequencing; potentially compound heterozygous" "Germline" "?" "" "0" "" "" "g.38071207C>T" "" "likely pathogenic" ""
"0000797436" "0" "70" "2" "38302350" "38302350" "subst" "0.00033359" "00000" "CYP1B1_000012" "g.38302350C>T" "" "{PMID:Patel 2019:30653986}" "" "c.1139A-->G, c.182G-->A; p.Tyr380Cys, p.Gly61Glu*" "no Sanger sequencing; potentially compound heterozygous" "Germline" "?" "" "0" "" "" "g.38075207C>T" "" "likely pathogenic" ""
"0000797437" "0" "70" "2" "38298421" "38298433" "del" "0.000228025" "00000" "CYP1B1_000017" "g.38298421_38298433del" "" "{PMID:Patel 2019:30653986}" "" "c.1103G-->A, c.1064_1076del; p.Arg368His, p.Arg355Hisfs*69" "no Sanger sequencing; potentially compound heterozygous" "Germline" "?" "" "0" "" "" "g.38071278_38071290del" "" "likely pathogenic" ""
"0000797438" "0" "70" "2" "38302242" "38302242" "subst" "2.09304E-5" "00000" "CYP1B1_001165" "g.38302242A>G" "" "{PMID:Patel 2019:30653986}" "" "c.1103G-->A, c.290T-->C; p.Arg368His, p.Leu97Pro" "no Sanger sequencing; potentially compound heterozygous" "Germline" "?" "" "0" "" "" "g.38075099A>G" "" "likely pathogenic" ""
"0000797439" "11" "70" "2" "38298328" "38298328" "subst" "9.0068E-5" "00000" "CYP1B1_000021" "g.38298328C>T" "" "{PMID:Patel 2019:30653986}" "" "c.1103G-->A, c.1169G-->A; p.Arg368His, p.Arg390His" "confirmed with Sanger sequencing; compound heterozygous" "Germline" "yes" "" "0" "" "" "g.38071185C>T" "" "likely pathogenic" ""
"0000797440" "0" "70" "2" "38301670" "38301670" "delins" "0" "00000" "CYP1B1_001163" "g.38301670delinsGG" "" "{PMID:Patel 2019:30653986}" "" "c.868dupC, c.862delinsCC, c.317C-->A; p.Arg290Profs*37, p.Ala288Profs*39, p.Ala106Asp" "no Sanger sequencing; potentially compound heterozygous" "Germline" "?" "" "0" "" "" "g.38074527delinsGG" "" "likely pathogenic" ""
"0000797441" "0" "70" "2" "38302215" "38302215" "subst" "2.06509E-5" "00000" "CYP1B1_001106" "g.38302215G>T" "" "{PMID:Patel 2019:30653986}" "" "c.868dupC, c.862delinsCC, c.317C-->A; p.Arg290Profs*37, p.Ala288Profs*39, p.Ala106Asp" "no Sanger sequencing; potentially compound heterozygous" "Germline" "" "" "0" "" "" "g.38075072G>T" "" "likely pathogenic" ""
"0000797442" "0" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Patel 2019:30653986}" "" "c.1159G-->A,error in annotation - inserted nucleotides not written c.749_750delins13, c.745_746delinsC; p.Glu387Lys, p.Phe250Trpfs*4, p.Tyr249Profs*29" "no Sanger sequencing; potentially compound heterozygous" "Germline" "?" "" "0" "" "" "g.?" "" "likely pathogenic" ""
"0000797443" "0" "70" "2" "38301786" "38301787" "delins" "0" "00000" "CYP1B1_001164" "g.38301786_38301787delinsG" "" "{PMID:Patel 2019:30653986}" "" "c.1159G-->A, c.749_750delins13, c.745_746delinsC; p.Glu387Lys, p.Phe250Trpfs*4, p.Tyr249Profs*29" "no Sanger sequencing; potentially compound heterozygous" "Germline" "?" "" "0" "" "" "g.38074643_38074644delinsG" "" "likely pathogenic" ""
"0000797444" "0" "70" "2" "38302361" "38302361" "subst" "0.000166406" "00000" "CYP1B1_001014" "g.38302361C>T" "" "{PMID:Patel 2019:30653986}" "" "c.1147G-->A, c.171G-->A; p.Ala383Thr, p.Trp57*" "no Sanger sequencing; potentially compound heterozygous" "Germline" "?" "" "0" "" "" "g.38075218C>T" "" "likely pathogenic" ""
"0000812658" "0" "70" "2" "38301642" "38301642" "subst" "0" "00000" "CYP1B1_001166" "g.38301642A>T" "" "{PMID:Wang 2019:31106028}" "" "c.890A>T, p.(Ile297Asn)" "error in annotation: c.890A>T instead of T>A, compound heterozygous" "Germline" "?" "" "0" "" "" "g.38074499A>T" "" "likely pathogenic" ""
"0000812659" "0" "70" "2" "38298328" "38298328" "subst" "9.0068E-5" "00000" "CYP1B1_000021" "g.38298328C>T" "" "{PMID:Wang 2019:31106028}" "" "c.1169C>T, p.(Arg390His)" "error in annotation: c.1169C>T instead of G>A, compound heterozygous" "Germline" "?" "" "0" "" "" "g.38071185C>T" "" "likely pathogenic" ""
"0000814393" "3" "70" "2" "38298167" "38298167" "subst" "4.06068E-5" "00000" "CYP1B1_001040" "g.38298167G>A" "" "{PMID:Lenassi 2020:31848469}" "" "CYP1B1 c.1330C>T p.(Arg444Ter) hom" "homozygous" "Germline" "?" "" "0" "" "" "g.38071024G>A" "" "likely pathogenic" "ACMG"
"0000814408" "0" "70" "2" "38298394" "38298394" "subst" "0.00595164" "00000" "CYP1B1_001010" "g.38298394C>T" "" "{PMID:Lenassi 2020:31848469}" "" "CYP1B1 c.1103G>A p.(Arg368His) het CYP1B1 c.1159G>A p.(Glu387Lys) het" "heterozygouserozygous" "Germline" "?" "" "0" "" "" "g.38071251C>T" "" "likely pathogenic" "ACMG"
"0000814450" "0" "50" "2" "38302291" "38302291" "subst" "0.00353627" "00000" "CYP1B1_001042" "g.38302291A>T" "" "{PMID:Lenassi 2020:31848469}" "" "CYP1B1 c.241T>A p.(Tyr81Asn) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.38075148A>T" "" "VUS" "ACMG"
"0000814457" "3" "70" "2" "38298394" "38298394" "subst" "0.00595164" "00000" "CYP1B1_001010" "g.38298394C>T" "" "{PMID:Lenassi 2020:31848469}" "" "CYP1B1 c.1103G>A p.(Arg368His) hom" "homozygous" "Germline" "?" "" "0" "" "" "g.38071251C>T" "" "likely pathogenic" "ACMG"
"0000814471" "0" "70" "2" "38298338" "38298338" "subst" "0.000299394" "00000" "CYP1B1_000020" "g.38298338C>T" "" "{PMID:Lenassi 2020:31848469}" "" "CYP1B1 c.1103G>A p.(Arg368His) het CYP1B1 c.1159G>A p.(Glu387Lys) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.38071195C>T" "" "likely pathogenic" "ACMG"
"0000829418" "0" "50" "2" "27600408" "62081181" "dup" "0" "00000" "FSHR_000025" "g.27600408_62081181dup" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:27600408–62081181" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000846661" "0" "50" "2" "38301924" "38301924" "subst" "1.9988E-5" "00000" "CYP1B1_001087" "g.38301924T>C" "" "{PMID:Fernandez-Martinez 2011:21224891}" "" "CYP1B1 N203S" "heterozygous" "Unknown" "?" "" "0" "" "" "g.38074781T>C" "" "VUS" ""
"0000849875" "0" "30" "2" "38302521" "38302521" "subst" "4.14604E-6" "01943" "CYP1B1_001167" "g.38302521C>G" "" "" "" "CYP1B1(NM_000104.3):c.11G>C (p.R4P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000858517" "0" "30" "2" "38298262" "38298262" "subst" "0" "01943" "FAM82A1_000003" "g.38298262T>A" "" "" "" "CYP1B1(NM_000104.3):c.1235A>T (p.Q412L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000921881" "3" "90" "2" "38298328" "38298328" "subst" "9.0068E-5" "00006" "CYP1B1_000021" "g.38298328C>T" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.38071185C>T" "" "pathogenic (recessive)" ""
"0000921882" "1" "90" "2" "38302361" "38302361" "subst" "0.000166406" "00006" "CYP1B1_001014" "g.38302361C>T" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.38075218C>T" "" "pathogenic (recessive)" ""
"0000921883" "1" "90" "2" "38301692" "38301692" "subst" "1.71784E-5" "00006" "CYP1B1_001019" "g.38301692G>T" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.38074549G>T" "" "pathogenic (recessive)" ""
"0000921884" "3" "90" "2" "38298153" "38298153" "del" "0" "00006" "CYP1B1_000024" "g.38298153del" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.38071010del" "" "pathogenic (recessive)" ""
"0000921935" "2" "90" "2" "38298350" "38298350" "subst" "0" "00006" "CYP1B1_001161" "g.38298350C>T" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.38071207C>T" "" "pathogenic (recessive)" ""
"0000921936" "2" "90" "2" "38298329" "38298329" "subst" "2.4562E-5" "00006" "CYP1B1_001041" "g.38298329G>A" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.38071186G>A" "" "pathogenic (recessive)" ""
"0000928592" "0" "90" "2" "38302350" "38302350" "subst" "0.00033359" "02327" "CYP1B1_000012" "g.38302350C>T" "" "" "" "CYP1B1(NM_000104.3):c.181G>A (p.(Gly61Glu)), CYP1B1(NM_000104.3):c.182G>A (p.G61E, p.R61Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000947840" "0" "90" "2" "38298338" "38298338" "subst" "0.000299394" "02327" "CYP1B1_000020" "g.38298338C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000954764" "21" "70" "2" "38298394" "38298394" "subst" "0.00595164" "00006" "CYP1B1_001010" "g.38298394C>T" "" "{PMID:Prokudin 2014:24281366}" "" "" "variant Arg368His has markedly reduced activity" "Germline" "" "rs79204362" "0" "" "" "g.38071251C>T" "" "VUS" ""
"0000954765" "11" "90" "2" "38301847" "38301847" "subst" "0.0110195" "00006" "CYP1B1_001024" "g.38301847C>T" "" "{PMID:Prokudin 2014:24281366}" "" "" "hypomorphic variant," "Germline" "" "rs57865060" "0" "" "" "g.38074704C>T" "" "VUS (!)" ""
"0000954768" "11" "90" "2" "38302291" "38302291" "subst" "0.00353627" "00006" "CYP1B1_001042" "g.38302291A>T" "" "{PMID:Prokudin 2014:24281366}" "" "" "hypomorphic variant" "Germline" "no" "rs9282671" "0" "" "" "g.38075148A>T" "" "VUS (!)" ""
"0000954769" "21" "90" "2" "38301669" "38301669" "dup" "0" "00006" "CYP1B1_000015" "g.38301669dup" "" "{PMID:Prokudin 2014:24281366}" "" "" "inherited from unaffected mother" "Germline" "" "" "0" "" "" "g.38074526dup" "" "VUS" ""
"0000954785" "3" "50" "2" "38302213" "38302213" "subst" "0.000340744" "00006" "CYP1B1_001092" "g.38302213G>C" "" "{PMID:Fan 2020:32883240}" "" "" "variant in affected father and unaffected mother" "Germline" "yes" "" "0" "" "" "g.38075070G>C" "" "VUS" ""
"0000957476" "3" "50" "2" "38302213" "38302213" "subst" "0.000340744" "00006" "CYP1B1_001092" "g.38302213G>C" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "yes" "rs56339482" "0" "" "" "g.38075070G>C" "rs56339482" "VUS" ""
"0000957477" "0" "50" "2" "38302213" "38302213" "subst" "0.000340744" "00006" "CYP1B1_001092" "g.38302213G>C" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "yes" "rs56339482" "0" "" "" "g.38075070G>C" "rs56339482" "VUS" ""
"0000962088" "0" "30" "2" "38303018" "38303018" "dup" "0" "02329" "CYP1B1_001168" "g.38303018dup" "" "" "" "CYP1B1(NM_000104.3):c.-98dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000975257" "0" "50" "2" "38298178" "38298178" "subst" "3.24857E-5" "01804" "CYP1B1_000099" "g.38298178A>C" "" "" "" "CYP1B1(NM_000104.4):c.1319T>G (p.(Phe440Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000975258" "0" "50" "2" "38301522" "38301522" "subst" "0" "01804" "CYP1B1_001169" "g.38301522G>A" "" "" "" "CYP1B1(NM_000104.4):c.1010C>T (p.(Thr337Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000975259" "0" "50" "2" "38301585" "38301585" "subst" "2.87481E-5" "01804" "CYP1B1_001170" "g.38301585T>A" "" "" "" "CYP1B1(NM_000104.4):c.947A>T (p.(Asp316Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000975260" "0" "30" "2" "38302291" "38302291" "subst" "0.00353627" "01804" "CYP1B1_001042" "g.38302291A>T" "" "" "" "CYP1B1(NM_000104.3):c.241T>A (p.Y81N, p.L81I), CYP1B1(NM_000104.4):c.241T>A (p.(Tyr81Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000975261" "0" "50" "2" "38302345" "38302345" "subst" "5.25332E-6" "01804" "CYP1B1_001171" "g.38302345C>G" "" "" "" "CYP1B1(NM_000104.4):c.187G>C (p.(Ala63Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001033316" "0" "50" "2" "38301960" "38301960" "subst" "0.000155832" "01804" "CYP1B1_001172" "g.38301960A>C" "" "" "" "CYP1B1(NM_000104.4):c.572T>G (p.(Leu191Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001033317" "0" "50" "2" "38302210" "38302210" "subst" "0" "01804" "CYP1B1_001173" "g.38302210C>T" "" "" "" "CYP1B1(NM_000104.4):c.322G>A (p.(Val108Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001033318" "0" "50" "2" "38302377" "38302377" "subst" "0.000305902" "01804" "CYP1B1_001154" "g.38302377G>A" "" "" "" "CYP1B1(NM_000104.3):c.155C>T (p.P52L), CYP1B1(NM_000104.4):c.155C>T (p.(Pro52Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001045830" "0" "50" "2" "38302377" "38302377" "subst" "0.000305902" "02327" "CYP1B1_001154" "g.38302377G>A" "" "" "" "CYP1B1(NM_000104.3):c.155C>T (p.P52L), CYP1B1(NM_000104.4):c.155C>T (p.(Pro52Leu))" "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 CYP1B1
## Count = 646
"{{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}}" "{{VariantOnTranscript/Haplotype}}"
"0000062664" "00005992" "90" "1319" "0" "1319" "0" "c.1319T>G" "r.(?)" "p.(Phe440Cys)" "3" ""
"0000062665" "00005992" "11" "1294" "0" "1294" "0" "c.1294C=" "r.(?)" "p.(Leu432Val)" "3" ""
"0000062666" "00005992" "10" "-487" "0" "-487" "0" "c.-487dup" "r.(=)" "p.(=)" "_1" ""
"0000062667" "00005992" "99" "1064" "0" "1076" "0" "c.1064_1076del" "r.(?)" "p.(Arg355Hisfs*69)" "3" ""
"0000062668" "00005992" "99" "171" "0" "171" "0" "c.171G>A" "r.(?)" "p.(Trp57*)" "2" ""
"0000062669" "00005992" "11" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.(Asn453Ser)" "3" ""
"0000062670" "00005992" "10" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" ""
"0000062671" "00005992" "10" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" ""
"0000062672" "00005992" "10" "1347" "0" "1347" "0" "c.1347T>C" "r.(=)" "p.(=)" "3" ""
"0000080609" "00005992" "90" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.(Asn453Ser)" "3" ""
"0000080610" "00005992" "90" "1275" "0" "1275" "0" "c.1275dup" "r.(?)" "p.(Ser426ValfsTer5)" "3" ""
"0000080611" "00005992" "90" "230" "0" "230" "0" "c.230T>C" "r.(?)" "p.(Leu77Pro)" "2" ""
"0000080612" "00005992" "90" "434" "0" "443" "0" "c.434_443del" "r.(?)" "p.(fs*)" "2" ""
"0000080613" "00005992" "90" "806" "0" "814" "0" "c.806_814del" "r.(?)" "p.(fs*)" "2" ""
"0000080614" "00005992" "90" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368His)" "3" ""
"0000080615" "00005992" "90" "1168" "0" "1168" "0" "c.1168C>A" "r.(?)" "p.(Arg390Ser)" "3" ""
"0000080616" "00005992" "90" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" ""
"0000080617" "00005992" "90" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" ""
"0000080618" "00005992" "90" "970" "0" "971" "0" "c.970_971dup" "r.(?)" "p.(Thr325SerfsTer104)" "2" ""
"0000080619" "00005992" "90" "1090" "0" "1090" "0" "c.1090G>A" "r.(?)" "p.(Val364Met)" "3" ""
"0000080620" "00005992" "90" "171" "0" "171" "0" "c.171G>A" "r.(?)" "p.(Trp57*)" "2" ""
"0000080621" "00005992" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1Thr)" "2" ""
"0000080622" "00005992" "90" "161" "0" "161" "0" "c.161del" "r.(?)" "p.(Pro54ArgfsTer6)" "2" ""
"0000080623" "00005992" "90" "575" "0" "575" "0" "c.575A>T" "r.(?)" "p.(Asp192Val)" "2" ""
"0000080624" "00005992" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Val198Ile)" "2" ""
"0000080625" "00005992" "90" "840" "0" "840" "0" "c.840C>A" "r.(?)" "p.(Cys280*)" "2" ""
"0000080626" "00005992" "90" "958" "0" "958" "0" "c.958G>T" "r.(?)" "p.(Val320Leu)" "2" ""
"0000080627" "00005992" "90" "988" "0" "989" "0" "c.988_989delinsTT" "r.(?)" "p.(Ala330Phe)" "2" ""
"0000080628" "00005992" "90" "1331" "0" "1331" "0" "c.1331G>A" "r.(?)" "p.(Arg444Gln)" "3" ""
"0000080629" "00005992" "90" "1496" "0" "1496" "0" "c.1496A>G" "r.(?)" "p.(Glu499Gly)" "3" ""
"0000080630" "00005992" "90" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Glu229Lys)" "2" ""
"0000080631" "00005992" "90" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Arg355*)" "3" ""
"0000080632" "00005992" "50" "1328" "0" "1328" "0" "c.1328C>G" "r.(?)" "p.(fs*)" "3" ""
"0000080633" "00005992" "90" "1033" "0" "1033" "0" "c.1033C>T" "r.(?)" "p.(Leu345Phe)" "2" ""
"0000080634" "00005992" "90" "29" "0" "30" "0" "c.29_30insA" "r.(?)" "p.(fs*)" "2" ""
"0000080635" "00005992" "90" "578" "0" "578" "0" "c.578C>T" "r.(?)" "p.(Pro193Leu)" "2" ""
"0000080636" "00005992" "90" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Gln19*)" "2" ""
"0000080637" "00005992" "90" "1377" "0" "1378" "0" "c.1377_1378del" "r.(?)" "p.(fs*)" "3" ""
"0000080638" "00005992" "90" "535" "0" "535" "0" "c.535del" "r.(?)" "p.(Ala179ArgfsTer18)" "2" ""
"0000080639" "00005992" "90" "644" "0" "644" "0" "c.644G>T" "r.(?)" "p.(Ser215Ile)" "2" ""
"0000080640" "00005992" "90" "1325" "0" "1325" "0" "c.1325C>G" "r.(?)" "p.(Pro442Arg)" "3" ""
"0000080641" "00005992" "90" "279" "0" "279" "0" "c.279del" "r.(?)" "p.(Ile94Ter)" "2" ""
"0000080642" "00005992" "90" "174" "0" "174" "0" "c.174del" "r.(?)" "p.(Leu59Ter)" "2" ""
"0000080643" "00005992" "90" "694" "0" "694" "0" "c.694G>C" "r.(?)" "p.(Gly232Arg)" "2" ""
"0000080644" "00005992" "90" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Gln248*)" "2" ""
"0000080645" "00005992" "90" "1196" "0" "1196" "0" "c.1196T>G" "r.(?)" "p.(Ile399Ser)" "3" ""
"0000080646" "00005992" "90" "1267" "0" "1267" "0" "c.1267A>T" "r.(?)" "p.(Asn423Tyr)" "3" ""
"0000080647" "00005992" "90" "1330" "0" "1330" "0" "c.1330C>T" "r.(?)" "p.(Arg444*)" "3" ""
"0000080648" "00005992" "90" "1168" "0" "1168" "0" "c.1168C>T" "r.(?)" "p.(Arg390Cys)" "3" ""
"0000080649" "00005992" "90" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" ""
"0000080650" "00005992" "90" "241" "0" "241" "0" "c.241T>A" "r.(?)" "p.(Tyr81Asn)" "2" ""
"0000080651" "00005992" "90" "343" "0" "343" "0" "c.343G>C" "r.(?)" "p.(Ala115Pro)" "2" ""
"0000080652" "00005992" "90" "395" "0" "395" "0" "c.395T>G" "r.(?)" "p.(Met132Arg)" "2" ""
"0000080653" "00005992" "90" "431" "0" "431" "0" "c.431A>C" "r.(?)" "p.(Gln144Pro)" "2" ""
"0000080654" "00005992" "90" "715" "0" "715" "0" "c.715A>C" "r.(?)" "p.(Ser239Arg)" "2" ""
"0000080655" "00005992" "90" "1397" "0" "1397" "0" "c.1397G>A" "r.(?)" "p.(Gly466Asp)" "3" ""
"0000080656" "00005992" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Ala388Thr)" "3" ""
"0000080657" "00005992" "90" "1544" "0" "1544" "0" "c.1544C>T" "r.(?)" "p.(Ser515Leu)" "3" ""
"0000080658" "00005992" "90" "1568" "0" "1568" "0" "c.1568G>C" "r.(?)" "p.(Arg523Thr)" "3" ""
"0000080659" "00005992" "90" "1589" "0" "1589" "0" "c.1589A>G" "r.(?)" "p.(Asp530Gly)" "3" ""
"0000080660" "00005992" "90" "352" "0" "352" "0" "c.352C>A" "r.(?)" "p.(Pro118Thr)" "2" ""
"0000080661" "00005992" "90" "124" "0" "124" "0" "c.124C>T" "r.(?)" "p.(Gln42*)" "2" ""
"0000080662" "00005992" "90" "155" "0" "155" "0" "c.155dup" "r.(?)" "p.(Phe55ValfsTer169)" "2" ""
"0000080663" "00005992" "90" "1302" "0" "1302" "0" "c.1302G>A" "r.(?)" "p.(Trp434*)" "3" ""
"0000080664" "00005992" "90" "432" "0" "432" "0" "c.432G>T" "r.(?)" "p.(Gln144His)" "2" ""
"0000080665" "00005992" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "2" ""
"0000080666" "00005992" "90" "565" "0" "565" "0" "c.565G>C" "r.(?)" "p.(Ala189Pro)" "2" ""
"0000080667" "00005992" "90" "83" "0" "83" "0" "c.83C>G" "r.(?)" "p.(Ser28Trp)" "2" ""
"0000080668" "00005992" "90" "988" "0" "988" "0" "c.988G>T" "r.(?)" "p.(Ala330Ser)" "2" ""
"0000080669" "00005992" "90" "1225" "0" "1225" "0" "c.1225G>T" "r.(?)" "p.(Val409Phe)" "3" ""
"0000080670" "00005992" "90" "350" "0" "350" "0" "c.350G>C" "r.(?)" "p.(Arg117Pro)" "2" ""
"0000080671" "00005992" "90" "625" "0" "625" "0" "c.625T>C" "r.(?)" "p.(Cys209Arg)" "2" ""
"0000080672" "00005992" "90" "830" "0" "830" "0" "c.830del" "r.(?)" "p.(Leu277Ter)" "2" ""
"0000080673" "00005992" "90" "1109" "0" "1109" "0" "c.1109del" "r.(?)" "p.(Pro370LeufsTer58)" "3" ""
"0000080674" "00005992" "90" "1202" "0" "1211" "0" "c.1202_1211dup" "r.(?)" "p.(fs*)" "3" ""
"0000080675" "00005992" "90" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Glu173Lys)" "2" ""
"0000080676" "00005992" "90" "1492" "0" "1492" "0" "c.1492A>G" "r.(?)" "p.(Asn498Asp)" "3" ""
"0000080677" "00005992" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Gln110*)" "2" ""
"0000080678" "00005992" "90" "875" "0" "875" "0" "c.875T>A" "r.(?)" "p.(Met292Lys)" "2" ""
"0000080679" "00005992" "90" "185" "0" "185" "0" "c.185del" "r.(?)" "p.(Asn62ThrfsTer33)" "2" ""
"0000080680" "00005992" "90" "243" "0" "243" "0" "c.243C>A" "r.(?)" "p.(Tyr81*)" "2" ""
"0000080681" "00005992" "90" "605" "0" "605" "0" "c.605C>A" "r.(?)" "p.(Ala202Asp)" "2" ""
"0000080682" "00005992" "90" "806" "0" "814" "0" "c.806_814dup" "r.(?)" "p.(fs*)" "2" ""
"0000080683" "00005992" "90" "872" "0" "872" "0" "c.872A>G" "r.(?)" "p.(Asp291Gly)" "2" ""
"0000080684" "00005992" "90" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368Cys)" "3" ""
"0000080685" "00005992" "90" "1507" "0" "1507" "0" "c.1507del" "r.(?)" "p.(Met503Ter)" "3" ""
"0000080686" "00005992" "90" "1517" "0" "1536" "0" "c.1517_1536del" "r.(?)" "p.(fs*)" "3" ""
"0000080687" "00005992" "90" "574" "0" "574" "0" "c.574G>T" "r.(?)" "p.(Asp192Tyr)" "2" ""
"0000080688" "00005992" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Gly329Asp)" "2" ""
"0000080689" "00005992" "90" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Pro400Ser)" "3" ""
"0000080690" "00005992" "90" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Trp)" "2" ""
"0000080691" "00005992" "90" "986" "0" "986" "0" "c.986G>T" "r.(?)" "p.(Gly329Val)" "2" ""
"0000080692" "00005992" "90" "1300" "0" "1300" "0" "c.1300T>C" "r.(?)" "p.(Trp434Arg)" "3" ""
"0000080693" "00005992" "90" "1311" "0" "1315" "0" "c.1311_1315del" "r.(?)" "p.(fs*)" "3" ""
"0000080694" "00005992" "90" "1153" "0" "1153" "0" "c.1153C>T" "r.(?)" "p.(Leu385Phe)" "3" ""
"0000080695" "00005992" "90" "608" "0" "608" "0" "c.608A>G" "r.(?)" "p.(Asn203Ser)" "2" ""
"0000080696" "00005992" "90" "1333" "0" "1333" "0" "c.1333T>A" "r.(?)" "p.(Phe445Ile)" "3" ""
"0000080697" "00005992" "90" "167" "0" "167" "0" "c.167del" "r.(?)" "p.(Ala56GlyfsTer4)" "2" ""
"0000080698" "00005992" "90" "180" "0" "180" "0" "c.180C>G" "r.(?)" "p.(Ile60Met)" "2" ""
"0000080699" "00005992" "90" "284" "0" "284" "0" "c.284T>C" "r.(?)" "p.(Val95Ala)" "2" ""
"0000080700" "00005992" "90" "319" "0" "319" "0" "c.319C>G" "r.(?)" "p.(Leu107Val)" "2" ""
"0000080701" "00005992" "90" "346" "0" "363" "0" "c.346_363dup" "r.(?)" "p.(fs*)" "2" ""
"0000080702" "00005992" "90" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Pro118Ser)" "2" ""
"0000080703" "00005992" "90" "401" "0" "401" "0" "c.401T>C" "r.(?)" "p.(Phe134Ser)" "2" ""
"0000080704" "00005992" "90" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Ala287Thr)" "2" ""
"0000080705" "00005992" "90" "956" "0" "956" "0" "c.956A>G" "r.(?)" "p.(Asn319Ser)" "2" ""
"0000080706" "00005992" "90" "1372" "0" "1376" "0" "c.1372_1376delinsTTGTTGAAAAA" "r.(?)" "p.(fs*)" "3" ""
"0000080707" "00005992" "90" "530" "0" "530" "0" "c.530T>G" "r.(?)" "p.(Leu177Arg)" "2" ""
"0000080708" "00005992" "90" "1122" "0" "1122" "0" "c.1122C>G" "r.(?)" "p.(Asp374Glu)" "3" ""
"0000080709" "00005992" "90" "1460" "0" "1460" "0" "c.1460T>C" "r.(?)" "p.(Leu487Pro)" "3" ""
"0000080710" "00005992" "90" "202" "0" "209" "0" "c.202_209del" "r.(?)" "p.(fs*)" "2" ""
"0000080711" "00005992" "90" "530" "0" "530" "0" "c.530T>C" "r.(?)" "p.(Leu177Pro)" "2" ""
"0000080712" "00005992" "90" "568" "0" "568" "0" "c.568T>C" "r.(?)" "p.(Phe190Leu)" "2" ""
"0000080713" "00005992" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Ser282Asn)" "2" ""
"0000080714" "00005992" "90" "317" "0" "317" "0" "c.317C>A" "r.(?)" "p.(Ala106Asp)" "2" ""
"0000080715" "00005992" "90" "517" "0" "517" "0" "c.517G>T" "r.(?)" "p.(Glu173*)" "2" ""
"0000080716" "00005992" "90" "783" "0" "783" "0" "c.783C>A" "r.(?)" "p.(Phe261Leu)" "2" ""
"0000080717" "00005992" "90" "784" "0" "784" "0" "c.784G>T" "r.(?)" "p.(Glu262*)" "2" ""
"0000080718" "00005992" "90" "1536" "0" "1541" "0" "c.1536_1541del" "r.(?)" "p.(fs*)" "3" ""
"0000080719" "00005992" "90" "828" "0" "828" "0" "c.828del" "r.(?)" "p.(Leu277Ter)" "2" ""
"0000080720" "00005992" "90" "1412" "0" "1412" "0" "c.1412T>G" "r.(?)" "p.(Ile471Ser)" "3" ""
"0000080721" "00005992" "90" "1133" "0" "1133" "0" "c.1133T>A" "r.(?)" "p.(Leu378Gln)" "3" ""
"0000080722" "00005992" "90" "718" "0" "718" "0" "c.718del" "r.(?)" "p.(Leu240TrpfsTer4)" "2" ""
"0000080723" "00005992" "90" "570" "0" "570" "0" "c.570C>A" "r.(?)" "p.(Phe190Leu)" "2" ""
"0000080724" "00005992" "90" "71" "0" "71" "0" "c.71T>G" "r.(?)" "p.(Leu24Arg)" "2" ""
"0000080725" "00005992" "90" "1568" "0" "1568" "0" "c.1568G>A" "r.(?)" "p.(Arg523Lys)" "3" ""
"0000080726" "00005992" "90" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Gly168Asp)" "2" ""
"0000080727" "00005992" "90" "1334" "0" "1334" "0" "c.1334T>C" "r.(?)" "p.(Phe445Ser)" "3" ""
"0000080728" "00005992" "90" "247" "0" "247" "0" "c.247del" "r.(?)" "p.(Asp83ThrfsTer12)" "2" ""
"0000080729" "00005992" "90" "835" "0" "835" "0" "c.835C>G" "r.(?)" "p.(His279Asp)" "2" ""
"0000080730" "00005992" "90" "1290" "0" "1290" "0" "c.1290C>G" "r.(?)" "p.(Asp430Glu)" "3" ""
"0000080731" "00005992" "90" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Cys)" "2" ""
"0000080732" "00005992" "90" "626" "0" "627" "0" "c.626_627del" "r.(?)" "p.(fs*)" "2" ""
"0000080733" "00005992" "90" "1409" "0" "1409" "0" "c.1409G>A" "r.(?)" "p.(Cys470Tyr)" "3" ""
"0000080734" "00005992" "90" "1536" "0" "1536" "0" "c.1536del" "r.(?)" "p.(Lys512AsnfsTer39)" "3" ""
"0000080735" "00005992" "90" "756" "0" "756" "0" "c.756C>A" "r.(?)" "p.(Asn252Lys)" "2" ""
"0000080736" "00005992" "90" "1379" "0" "1379" "0" "c.1379T>A" "r.(?)" "p.(Val460Glu)" "3" ""
"0000080737" "00005992" "90" "1454" "0" "1454" "0" "c.1454C>T" "r.(?)" "p.(Ser485Phe)" "3" ""
"0000080738" "00005992" "90" "1555" "0" "1555" "0" "c.1555A>G" "r.(?)" "p.(Asn519Asp)" "3" ""
"0000080739" "00005992" "90" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Gln109*)" "2" ""
"0000080740" "00005992" "90" "639" "0" "643" "0" "c.639_643delinsATC" "r.(?)" "p.(fs*)" "2" ""
"0000080741" "00005992" "90" "864" "0" "874" "0" "c.864_874delinsGG" "r.(?)" "p.(fs*)" "2" ""
"0000080742" "00005992" "90" "1198" "0" "1209" "0" "c.1198_1209dup" "r.(?)" "p.(fs*)" "3" ""
"0000080743" "00005992" "90" "1256" "0" "1257" "0" "c.1256_1257del" "r.(?)" "p.(fs*)" "3" ""
"0000080744" "00005992" "10" "729" "0" "729" "0" "c.729G>C" "r.(?)" "p.(=)" "2" ""
"0000080745" "00005992" "10" "1078" "0" "1078" "0" "c.1078T>C" "r.(?)" "p.(=)" "3" ""
"0000080746" "00005992" "10" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.Arg48Gly" "2" "CYP1B1*2"
"0000080747" "00005992" "10" "1294" "0" "1294" "0" "c.1294C>G" "-" "p.Leu432Val" "3" "CYP1B1*3"
"0000080748" "00005992" "10" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.Asn453Ser" "3" "CYP1B1*4"
"0000080749" "00005992" "70" "1294" "0" "1294" "0" "c.1294C>G" "-" "p.Leu432Val" "3" "CYP1B1*6"
"0000080750" "00005992" "70" "1294" "0" "1294" "0" "c.1294C>G" "-" "p.Leu432Val" "3" "CYP1B1*7"
"0000080751" "00005992" "10" "1294" "0" "1294" "0" "c.1294C>G" "-" "p.Leu432Val" "3" ""
"0000080752" "00005992" "10" "1294" "0" "1294" "0" "c.1294C>G" "-" "p.Leu432Val" "3" ""
"0000080753" "00005992" "10" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.Arg48Gly" "2" "CYP1B1*2"
"0000080754" "00005992" "10" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.Ala119Ser" "2" "CYP1B1*2"
"0000080755" "00005992" "70" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.Arg48Gly" "2" "CYP1B1*6"
"0000080756" "00005992" "70" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.Arg48Gly" "2" "CYP1B1*7"
"0000080757" "00005992" "70" "1328" "0" "1328" "0" "c.1328C>G" "r.(?)" "p.Ala443Gly" "3" "CYP1B1*7"
"0000080758" "00005992" "70" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.Ala119Ser" "2" "CYP1B1*7"
"0000080759" "00005992" "10" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.Asn453Ser" "3" ""
"0000080760" "00005992" "10" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.Arg48Gly" "2" ""
"0000080761" "00005992" "10" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.Ala119Ser" "2" "CYP1B1*2"
"0000080794" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*3"
"0000080795" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*6"
"0000080796" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*6"
"0000080797" "00005992" "50" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.(Asn453Ser)" "3" "CYP1B1*4"
"0000080798" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "CYP1B1*2"
"0000080799" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "CYP1B1*5"
"0000080800" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*5"
"0000080801" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "CYP1B1*6"
"0000080802" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "CYP1B1*7"
"0000080803" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*7"
"0000080804" "00005992" "50" "1328" "0" "1328" "0" "c.1328C>G" "r.(?)" "p.(Ala443Gly)" "3" "CYP1B1*7"
"0000080805" "00005992" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" "CYP1B1*6"
"0000080806" "00005992" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" "CYP1B1*7"
"0000080807" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "CYP1B1*6"
"0000080808" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "CYP1B1*6"
"0000080809" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*6"
"0000080810" "00005992" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" "CYP1B1*6"
"0000080811" "00005992" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" "CYP1B1*6"
"0000080812" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "CYP1B1*7"
"0000080813" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*7"
"0000080814" "00005992" "50" "1328" "0" "1328" "0" "c.1328C>G" "r.(?)" "p.(Ala443Gly)" "3" "CYP1B1*7"
"0000080815" "00005992" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" "CYP1B1*7"
"0000080816" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "CYP1B1*5"
"0000080817" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*5"
"0000080818" "00005992" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" "CYP1B1*2"
"0000080893" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "CYP1B1*2"
"0000080894" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*3"
"0000080895" "00005992" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" "CYP1B1*2"
"0000080896" "00005992" "10" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*3"
"0000080897" "00005992" "10" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*3"
"0000080902" "00005992" "10" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*3"
"0000080911" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "CYP1B1*2"
"0000080912" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "CYP1B1*2"
"0000080913" "00005992" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" "CYP1B1*2"
"0000080914" "00005992" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" "CYP1B1*2"
"0000080915" "00005992" "10" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*3"
"0000080916" "00005992" "10" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*3"
"0000080919" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "CYP1B1*2"
"0000080920" "00005992" "50" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.(Asn453Ser)" "3" "CYP1B1*4"
"0000080921" "00005992" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" "CYP1B1*2"
"0000080933" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*3"
"0000080934" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*3"
"0000080938" "00005992" "10" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*3"
"0000080939" "00005992" "10" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*3"
"0000080940" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*7"
"0000080941" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*3"
"0000080942" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "CYP1B1*7"
"0000080943" "00005992" "50" "1328" "0" "1328" "0" "c.1328C>G" "r.(?)" "p.(Ala443Gly)" "3" "CYP1B1*7"
"0000080944" "00005992" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" "CYP1B1*7"
"0000080945" "00005992" "50" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.(Asn453Ser)" "3" "CYP1B1*4"
"0000080948" "00005992" "10" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.(Asn453Ser)" "3" "CYP1B1*4"
"0000080949" "00005992" "10" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*3"
"0000080950" "00005992" "11" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*3"
"0000080952" "00005992" "10" "1347" "0" "1347" "0" "c.1347T>C" "r.(?)" "p.(=)" "3" "CYP1B1*4"
"0000080953" "00005992" "10" "-1" "-12" "-1" "-12" "c.-1-12C>T" "r.(=)" "p.(=)" "1i" ""
"0000080954" "00005992" "10" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.(Asn453Ser)" "3" "CYP1B1*4"
"0000080956" "00005992" "10" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.(Asn453Ser)" "3" "CYP1B1*4"
"0000080957" "00005992" "10" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.(Asn453Ser)" "3" "CYP1B1*4"
"0000080983" "00005992" "10" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "CYP1B1*2"
"0000080984" "00005992" "10" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" "CYP1B1*2"
"0000080985" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "CYP1B1*2"
"0000080986" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*3"
"0000080987" "00005992" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" "CYP1B1*2"
"0000080988" "00005992" "10" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.(Asn453Ser)" "3" "CYP1B1*4"
"0000080989" "00005992" "10" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.(Asn453Ser)" "3" "CYP1B1*4"
"0000080990" "00005992" "10" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.(Asn453Ser)" "3" "CYP1B1*4"
"0000080991" "00005992" "10" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.(Asn453Ser)" "3" "CYP1B1*4"
"0000080994" "00005992" "10" "1347" "0" "1347" "0" "c.1347T>C" "r.(?)" "p.(=)" "3" "CYP1B1*4"
"0000080995" "00005992" "10" "1347" "0" "1347" "0" "c.1347T>C" "r.(?)" "p.(=)" "3" "CYP1B1*4"
"0000080996" "00005992" "10" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.(Asn453Ser)" "3" "CYP1B1*4"
"0000081000" "00005992" "10" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.(Asn453Ser)" "3" "CYP1B1*4"
"0000081001" "00005992" "10" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.(Asn453Ser)" "3" "CYP1B1*4"
"0000081002" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "CYP1B1*2"
"0000081003" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "CYP1B1*7"
"0000081004" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*7"
"0000081005" "00005992" "50" "1328" "0" "1328" "0" "c.1328C>G" "r.(?)" "p.(Ala443Gly)" "3" "CYP1B1*7"
"0000081006" "00005992" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" "CYP1B1*2"
"0000081007" "00005992" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" "CYP1B1*7"
"0000081017" "00005992" "11" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*3"
"0000081018" "00005992" "11" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*3"
"0000081019" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "CYP1B1*2"
"0000081020" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*3"
"0000081021" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "CYP1B1*6"
"0000081022" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*6"
"0000081023" "00005992" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" "CYP1B1*2"
"0000081024" "00005992" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" "CYP1B1*6"
"0000081025" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "CYP1B1*6"
"0000081026" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*6"
"0000081027" "00005992" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" "CYP1B1*6"
"0000081029" "00005992" "10" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*3"
"0000081030" "00005992" "10" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*3"
"0000081031" "00005992" "10" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "CYP1B1*2"
"0000081032" "00005992" "10" "-1" "-12" "-1" "-12" "c.-1-12C>T" "r.(=)" "p.(=)" "1i" ""
"0000081033" "00005992" "10" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "CYP1B1*2"
"0000081034" "00005992" "10" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" "CYP1B1*2"
"0000081035" "00005992" "10" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" "CYP1B1*2"
"0000081036" "00005992" "10" "-1" "-12" "-1" "-12" "c.-1-12C>T" "r.(=)" "p.(=)" "1i" ""
"0000081037" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*3"
"0000081038" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "CYP1B1*7"
"0000081039" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*7"
"0000081040" "00005992" "50" "1328" "0" "1328" "0" "c.1328C>G" "r.(?)" "p.(Ala443Gly)" "3" "CYP1B1*7"
"0000081041" "00005992" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" "CYP1B1*7"
"0000081043" "00005992" "10" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*3"
"0000081146" "00005992" "11" "0" "0" "0" "0" "c.=" "-" "p.=" "1_3" "CYP1B1*1"
"0000081147" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.Arg48Gly" "2" "CYP1B1*2"
"0000081148" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "r.1294c>g" "p.Leu432Val" "3" "CYP1B1*3"
"0000081149" "00005992" "50" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.Asn453Ser" "3" "CYP1B1*4"
"0000081150" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "-" "p.Leu432Val" "3" "CYP1B1*5"
"0000081151" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "-" "p.Leu432Val" "3" "CYP1B1*6"
"0000081152" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "-" "p.Leu432Val" "3" "CYP1B1*7"
"0000081153" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "-" "p.Leu432Val" "3" "CYP1B1*8"
"0000081154" "00005992" "50" "0" "0" "0" "0" "c.?" "-" "p.?" "1_3" "CYP1B1*9"
"0000081155" "00005992" "50" "0" "0" "0" "0" "c.?" "-" "p.?" "1_3" "CYP1B1*10"
"0000081156" "00005992" "90" "171" "0" "171" "0" "c.171G>C" "r.(?)" "p.Trp57Cys" "2" "CYP1B1*11"
"0000081157" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.Gly61Glu" "2" "CYP1B1*12"
"0000081158" "00005992" "99" "501" "0" "502" "0" "c.501_502insT" "r.501_502insu" "p.Gly168Trpfs*56" "2" "CYP1B1*13"
"0000081159" "00005992" "99" "841" "0" "841" "0" "c.841G>T" "r.841g>u" "p.Glu281*" "2" "CYP1B1*14"
"0000081160" "00005992" "99" "868" "0" "868" "0" "c.868dup" "r.868dup" "p.Arg290Profs*37" "2" "CYP1B1*15"
"0000081161" "00005992" "90" "" "" "" "" "c.1044-?_(1044_*)del" "-" "p.?" "2i_3" "CYP1B1*16"
"0000081162" "00005992" "99" "1064" "0" "1076" "0" "c.1064_1076del" "r.1064_1076del" "p.Arg355Hisfs*69" "3" "CYP1B1*17"
"0000081163" "00005992" "90" "1093" "0" "1093" "0" "c.1093G>T" "r.1093g>u" "p.Gly365Trp" "3" "CYP1B1*18"
"0000081164" "00005992" "90" "1136" "0" "1136" "0" "c.1136C>T" "r.1136u>u" "p.Pro379Leu" "3" "CYP1B1*19"
"0000081165" "00005992" "90" "1159" "0" "1159" "0" "c.1159G>A" "r.1159g>a" "p.Glu387Lys" "3" "CYP1B1*20"
"0000081166" "00005992" "90" "1169" "0" "1169" "0" "c.1169G>A" "r.1169g>a" "p.Arg390His" "3" "CYP1B1*21"
"0000081167" "00005992" "99" "1200" "0" "1209" "0" "c.1200_1209dup" "r.1200_1209dup" "p.(Thr404Serfs*30)" "3" "CYP1B1*22"
"0000081168" "00005992" "90" "1310" "0" "1310" "0" "c.1310C>T" "r.1310c>u" "p.Pro437Leu" "3" "CYP1B1*23"
"0000081169" "00005992" "99" "1345" "0" "1345" "0" "c.1345del" "r.1345del" "p.Asp449Metfs*8" "3" "CYP1B1*24"
"0000081170" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.1405c>u" "p.Arg469Trp" "3" "CYP1B1*25"
"0000081171" "00005992" "90" "1403" "0" "1429" "0" "c.1403_1429dup" "r.1403_1429dup" "p.Arg468_Ser476dup" "3" "CYP1B1*26"
"0000081172" "00005992" "30" "1347" "0" "1347" "0" "c.1347T>C" "r.(?)" "p.(=)" "3" ""
"0000081173" "00005992" "90" "1064" "0" "1076" "0" "c.1064_1076del" "r.1064_1076del" "p.fs*" "3" "CYP1B1*17"
"0000081174" "00005992" "90" "1064" "0" "1076" "0" "c.1064_1076del" "r.(?)" "p.(fs*)" "3" "CYP1B1*17"
"0000081175" "00005992" "90" "1064" "0" "1076" "0" "c.1064_1076del" "r.(?)" "p.(fs*)" "3" "CYP1B1*17"
"0000081176" "00005992" "90" "868" "0" "868" "0" "c.868dup" "r.(?)" "p.(Arg290ProfsTer37)" "2" "CYP1B1*15"
"0000081177" "00005992" "90" "868" "0" "868" "0" "c.868dup" "r.(?)" "p.(Arg290ProfsTer37)" "2" "CYP1B1*15"
"0000081178" "00005992" "90" "868" "0" "868" "0" "c.868dup" "r.(?)" "p.(Arg290ProfsTer37)" "2" "CYP1B1*15"
"0000081179" "00005992" "90" "" "" "" "" "c.1044-?_(1044_*)del" "r.spl" "p.?" "2i_3" "CYP1B1*16"
"0000081180" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "CYP1B1*8"
"0000081181" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081182" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081183" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081184" "00005992" "90" "501" "0" "502" "0" "c.501_502insT" "r.(?)" "p.(fs*)" "2" "CYP1B1*13"
"0000081185" "00005992" "90" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Glu387Lys)" "3" "CYP1B1*20"
"0000081186" "00005992" "90" "1200" "0" "1209" "0" "c.1200_1209dup" "r.(?)" "p.(fs*)" "3" "CYP1B1*22"
"0000081187" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "3" "CYP1B1*25"
"0000081188" "00005992" "99" "171" "0" "171" "0" "c.171G>C" "r.(?)" "p.(Trp57Cys)" "2" "CYP1B1*11"
"0000081189" "00005992" "90" "1200" "0" "1209" "0" "c.1200_1209dup" "r.(?)" "p.(fs*)" "3" "CYP1B1*22"
"0000081190" "00005992" "90" "1093" "0" "1093" "0" "c.1093G>T" "r.(?)" "p.(Gly365Trp)" "3" "CYP1B1*18"
"0000081191" "00005992" "90" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Glu387Lys)" "3" "CYP1B1*20"
"0000081192" "00005992" "90" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Glu387Lys)" "3" "CYP1B1*20"
"0000081193" "00005992" "90" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "3" "CYP1B1*21"
"0000081194" "00005992" "90" "1200" "0" "1209" "0" "c.1200_1209dup" "r.(?)" "p.(fs*)" "3" "CYP1B1*22"
"0000081196" "00005992" "90" "1200" "0" "1209" "0" "c.1200_1209dup" "r.(?)" "p.(fs*)" "3" "CYP1B1*22"
"0000081197" "00005992" "90" "501" "0" "502" "0" "c.501_502insT" "r.(?)" "p.(fs*)" "2" "CYP1B1*13"
"0000081198" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081199" "00005992" "90" "841" "0" "841" "0" "c.841G>T" "r.(?)" "p.(Glu281*)" "2" "CYP1B1*14"
"0000081200" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081202" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081203" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081204" "00005992" "90" "1200" "0" "1209" "0" "c.1200_1209dup" "r.(?)" "p.(fs*)" "3" "CYP1B1*22"
"0000081205" "00005992" "90" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Pro437Leu)" "3" "CYP1B1*23"
"0000081208" "00005992" "90" "1403" "0" "1429" "0" "c.1403_1429dup" "r.(?)" "p.(fs*)" "3" "CYP1B1*26"
"0000081209" "00005992" "90" "1136" "0" "1136" "0" "c.1136C>T" "r.(?)" "p.(Pro379Leu)" "3" "CYP1B1*19"
"0000081211" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081212" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081214" "00005992" "90" "1136" "0" "1136" "0" "c.1136C>T" "r.(?)" "p.(Pro379Leu)" "3" "CYP1B1*19"
"0000081215" "00005992" "90" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Glu387Lys)" "3" "CYP1B1*20"
"0000081216" "00005992" "90" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "3" "CYP1B1*21"
"0000081217" "00005992" "90" "1200" "0" "1209" "0" "c.1200_1209dup" "r.(?)" "p.(fs*)" "3" "CYP1B1*22"
"0000081218" "00005992" "90" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Pro437Leu)" "3" "CYP1B1*23"
"0000081219" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "3" "CYP1B1*25"
"0000081220" "00005992" "90" "1403" "0" "1429" "0" "c.1403_1429dup" "r.(?)" "p.(fs*)" "3" "CYP1B1*26"
"0000081221" "00005992" "90" "868" "0" "868" "0" "c.868dup" "r.(?)" "p.(Arg290ProfsTer37)" "2" "CYP1B1*15"
"0000081222" "00005992" "90" "" "" "" "" "c.1044-?_(1044_*)del" "r.spl" "p.?" "2i_3" "CYP1B1*16"
"0000081223" "00005992" "90" "1064" "0" "1076" "0" "c.1064_1076del" "r.1064_1076del" "p.fs*" "3" "CYP1B1*17"
"0000081224" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081225" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081226" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081227" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081228" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081229" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081230" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081231" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081232" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081233" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081234" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081235" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081236" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081237" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081238" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081239" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081240" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081353" "00005992" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.Ala119Ser" "2" "CYP1B1*2"
"0000081354" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.Arg48Gly" "2" "CYP1B1*5"
"0000081355" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.Arg48Gly" "2" "CYP1B1*6"
"0000081356" "00005992" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.Ala119Ser" "2" "CYP1B1*6"
"0000081357" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.Arg48Gly" "2" "CYP1B1*7"
"0000081358" "00005992" "50" "1328" "0" "1328" "0" "c.1328C>G" "r.(?)" "p.Ala443Gly" "3" "CYP1B1*7"
"0000081359" "00005992" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.Ala119Ser" "2" "CYP1B1*7"
"0000081360" "00005992" "50" "1321" "0" "1321" "0" "c.1321G>C" "r.1321g>c" "p.Asp441His" "3" "CYP1B1*8"
"0000081361" "00005992" "11" "1347" "0" "1347" "0" "c.1347T>C" "r.1347u>c" "p.Asp449=" "3" "CYP1B1*8"
"0000081362" "00005992" "90" "1064" "0" "1076" "0" "c.1064_1076del" "r.(?)" "p.(fs*)" "3" "CYP1B1*17"
"0000081363" "00005992" "90" "868" "0" "868" "0" "c.868dup" "r.(?)" "p.(Arg290ProfsTer37)" "2" "CYP1B1*15"
"0000081364" "00005992" "50" "1321" "0" "1321" "0" "c.1321G>C" "r.(?)" "p.(Asp441His)" "3" "CYP1B1*8"
"0000081365" "00005992" "50" "1347" "0" "1347" "0" "c.1347T>C" "r.(?)" "p.(=)" "3" "CYP1B1*8"
"0000081366" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "3" "CYP1B1*25"
"0000081368" "00005992" "90" "1200" "0" "1209" "0" "c.1200_1209dup" "r.(?)" "p.(fs*)" "3" "CYP1B1*22"
"0000081369" "00005992" "90" "501" "0" "502" "0" "c.501_502insT" "r.(?)" "p.(fs*)" "2" "CYP1B1*13"
"0000081371" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "3" "CYP1B1*25"
"0000081374" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081375" "00005992" "90" "841" "0" "841" "0" "c.841G>T" "r.(?)" "p.(Glu281*)" "2" "CYP1B1*14"
"0000081377" "00005992" "90" "1200" "0" "1209" "0" "c.1200_1209dup" "r.(?)" "p.(fs*)" "3" "CYP1B1*22"
"0000081378" "00005992" "99" "1345" "0" "1345" "0" "c.1345del" "r.(?)" "p.(Asp449Metfs*8)" "3" "CYP1B1*24"
"0000081379" "00005992" "90" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "3" "CYP1B1*21"
"0000081380" "00005992" "90" "1200" "0" "1209" "0" "c.1200_1209dup" "r.(?)" "p.(fs*)" "3" "CYP1B1*22"
"0000081381" "00005992" "90" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Pro437Leu)" "3" "CYP1B1*23"
"0000081383" "00005992" "90" "1403" "0" "1429" "0" "c.1403_1429dup" "r.(?)" "p.(fs*)" "3" "CYP1B1*26"
"0000081384" "00005992" "90" "868" "0" "868" "0" "c.868dup" "r.(?)" "p.(Arg290ProfsTer37)" "2" "CYP1B1*15"
"0000081385" "00005992" "90" "" "" "" "" "c.1044-?_(1044_*)del" "r.spl" "p.?" "2i_3" "CYP1B1*16"
"0000081386" "00005992" "90" "1064" "0" "1076" "0" "c.1064_1076del" "r.1064_1076del" "p.fs*" "3" "CYP1B1*17"
"0000081387" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081388" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081389" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081390" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081391" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081392" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081393" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081394" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081395" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081396" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081397" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081398" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081399" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081400" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081401" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081402" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "2" "CYP1B1*12"
"0000081419" "00005992" "70" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.Ala119Ser" "2" "CYP1B1*6"
"0000081420" "00005992" "99" "1200" "0" "1209" "0" "c.1200_1209dup" "r.(?)" "p.(Thr404Serfs*30)" "3" ""
"0000084863" "00005992" "70" "1200" "0" "1209" "0" "c.1200_1209dup" "r.(?)" "p.(Thr404Serfs*30)" "3" ""
"0000084864" "00005992" "70" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.Glu387Lys" "3" ""
"0000084865" "00005992" "70" "535" "0" "535" "0" "c.535del" "r.(?)" "p.(Ala179Argfs*18)" "2" "RAVN"
"0000084866" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "3" "RAVN"
"0000084867" "00005992" "70" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Gly53Ser)" "3" "GSLN"
"0000084870" "00005992" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "2" "GSLN"
"0000084871" "00005992" "50" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "2" "GSLN"
"0000084872" "00005992" "50" "1294" "0" "1294" "0" "c.1294C>G" "r.(?)" "p.(Leu432Val)" "3" "RAVN"
"0000132491" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "3" ""
"0000132492" "00005992" "90" "1300" "0" "1300" "0" "c.1300T>C" "r.(?)" "p.(Trp434Arg)" "3" ""
"0000132493" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "3" ""
"0000132494" "00005992" "90" "1200" "0" "1209" "0" "c.1200_1209dup" "r.(?)" "p.(Thr404Serfs*30)" "3" ""
"0000132495" "00005992" "90" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "3" ""
"0000132496" "00005992" "90" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "3" ""
"0000132497" "00005992" "90" "736" "0" "736" "0" "c.736dup" "r.(?)" "p.(Trp246Leufs*81)" "2" ""
"0000132498" "00005992" "90" "1331" "0" "1331" "0" "c.1331G>A" "r.(?)" "p.(Arg444Gln)" "3" ""
"0000132499" "00005992" "90" "241" "0" "241" "0" "c.241T>A" "r.(?)" "p.(Tyr81Asn)" "2" ""
"0000132500" "00005992" "90" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368His)" "3" ""
"0000132501" "00005992" "90" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "3" ""
"0000132502" "00005992" "90" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "3" ""
"0000132503" "00005992" "90" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "3" ""
"0000132504" "00005992" "90" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "3" ""
"0000132505" "00005992" "90" "1325" "0" "1325" "0" "c.1325del" "r.(?)" "p.(Pro442Glnfs*15)" "3" ""
"0000132506" "00005992" "90" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "3" ""
"0000132507" "00005992" "90" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "3" ""
"0000132508" "00005992" "90" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "3" ""
"0000132509" "00005992" "90" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Gln37*)" "2" ""
"0000132510" "00005992" "90" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "3" ""
"0000132511" "00005992" "90" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "3" ""
"0000132512" "00005992" "90" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "3" ""
"0000132513" "00005992" "90" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "3" ""
"0000132514" "00005992" "90" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Glu229Lys)" "2" ""
"0000132515" "00005992" "90" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368His)" "3" ""
"0000248513" "00005992" "10" "1347" "0" "1347" "0" "c.1347T>C" "r.(?)" "p.(Asp449=)" "" ""
"0000254403" "00005992" "30" "1078" "0" "1078" "0" "c.1078T>C" "r.(?)" "p.(Leu360=)" "" ""
"0000267240" "00005992" "10" "1294" "0" "1294" "0" "c.1294=" "r.(=)" "p.(Leu432=)" "" ""
"0000326940" "00005992" "50" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368His)" "" ""
"0000326941" "00005992" "50" "968" "0" "968" "0" "c.968C>T" "r.(?)" "p.(Thr323Ile)" "" ""
"0000438555" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000515777" "00005992" "90" "1200" "0" "1209" "0" "c.1200_1209dup" "r.(?)" "p.(Thr404SerfsTer30)" "" ""
"0000515778" "00005992" "30" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368His)" "" ""
"0000515779" "00005992" "30" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Glu229Lys)" "" ""
"0000515780" "00005992" "10" "594" "0" "594" "0" "c.594C>T" "r.(?)" "p.(Val198=)" "" ""
"0000515781" "00005992" "50" "241" "0" "241" "0" "c.241T>A" "r.(?)" "p.(Tyr81Asn)" "" ""
"0000607916" "00005992" "30" "1495" "0" "1495" "0" "c.1495G>A" "r.(?)" "p.(Glu499Lys)" "" ""
"0000607917" "00005992" "50" "550" "0" "550" "0" "c.550G>T" "r.(?)" "p.(Gly184Cys)" "" ""
"0000607919" "00005992" "30" "241" "0" "241" "0" "c.241T>A" "r.(?)" "p.(Tyr81Asn)" "" ""
"0000607920" "00005992" "30" "-1" "-8" "-1" "-8" "c.-1-8G>A" "r.(=)" "p.(=)" "" ""
"0000650589" "00005992" "50" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368His)" "" ""
"0000650590" "00005992" "50" "958" "0" "958" "0" "c.958G>T" "r.(?)" "p.(Val320Leu)" "" ""
"0000650591" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000650592" "00005992" "50" "155" "0" "155" "0" "c.155C>T" "r.(?)" "p.(Pro52Leu)" "" ""
"0000654626" "00005992" "50" "959" "0" "959" "0" "c.959T>C" "r.(?)" "p.(Val320Ala)" "" ""
"0000659578" "00005992" "90" "1200" "0" "1209" "0" "c.1200_1209dup" "r.(?)" "p.(Thr404Serfs*30)" "" ""
"0000660113" "00005992" "50" "806" "0" "814" "0" "c.806_814del" "r.(?)" "p.(Ser269_Phe271del)" "" ""
"0000660670" "00005992" "50" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368His)" "" ""
"0000660671" "00005992" "50" "1426" "0" "1426" "0" "c.1426T>C" "r.(?)" "p.(Ser476Pro)" "" ""
"0000669639" "00005992" "50" "1103" "0" "1103" "0" "c.1103G>A" "" "" "" ""
"0000676626" "00005992" "50" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000688748" "00005992" "50" "644" "0" "644" "0" "c.644G>T" "r.(?)" "p.(Ser215Ile)" "" ""
"0000688749" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000718760" "00005992" "50" "1403" "0" "1429" "0" "c.1403_1429dup" "r.(?)" "p.(Arg468_Ser476dup)" "" ""
"0000718761" "00005992" "10" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.(Asn453Ser)" "" ""
"0000718762" "00005992" "10" "1347" "0" "1347" "0" "c.1347T>C" "r.(?)" "p.(Asp449=)" "" ""
"0000718763" "00005992" "90" "1064" "0" "1076" "0" "c.1064_1076del" "r.(?)" "p.(Arg355HisfsTer69)" "" ""
"0000718764" "00005992" "50" "644" "0" "644" "0" "c.644G>T" "r.(?)" "p.(Ser215Ile)" "" ""
"0000718765" "00005992" "90" "535" "0" "535" "0" "c.535del" "r.(?)" "p.(Ala179Argfs*18)" "" ""
"0000718766" "00005992" "10" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Ala119Ser)" "" ""
"0000718767" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000718768" "00005992" "70" "155" "0" "155" "0" "c.155C>T" "r.(?)" "p.(Pro52Leu)" "" ""
"0000718769" "00005992" "10" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Arg48Gly)" "" ""
"0000718770" "00005992" "10" "-1" "-12" "-1" "-12" "c.-1-12C>T" "r.(=)" "p.(=)" "" ""
"0000730377" "00005992" "90" "434" "0" "443" "0" "c.434_443del" "r.(?)" "p.(Arg145Profs*4)" "" ""
"0000730378" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730379" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730380" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" ""
"0000730381" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730382" "00005992" "90" "1064" "0" "1076" "0" "c.1064_1076del" "r.(?)" "p.(Arg355Hisfs*69)" "" ""
"0000730383" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730384" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" ""
"0000730385" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730386" "00005992" "90" "756" "0" "756" "0" "c.756C>A" "r.(?)" "p.(Asn252Lys)" "" ""
"0000730387" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730388" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730389" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730390" "00005992" "90" "434" "0" "443" "0" "c.434_443del" "r.(?)" "p.(Arg145Profs*4)" "" ""
"0000730391" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730392" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730393" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730394" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730395" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730396" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730397" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730398" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730399" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730400" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730401" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730402" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730403" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730404" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730405" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730406" "00005992" "90" "1555" "0" "1555" "0" "c.1555A>G" "r.(?)" "p.(Asn519Asp)" "" ""
"0000730407" "00005992" "90" "1454" "0" "1454" "0" "c.1454C>T" "r.(?)" "p.(Ser485Phe)" "" ""
"0000730408" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" ""
"0000730409" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730410" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730411" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730412" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730413" "00005992" "90" "1517" "0" "1536" "0" "c.1517_1536del" "r.(?)" "p.(Ser506Thrfs*5)" "" ""
"0000730414" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" ""
"0000730415" "00005992" "90" "710" "0" "710" "0" "c.710C>A" "r.(?)" "p.(Ala237Glu)" "" ""
"0000730416" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730417" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" ""
"0000730418" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730419" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730420" "00005992" "90" "1517" "0" "1536" "0" "c.1517_1536del" "r.(?)" "p.(Ser506Thrfs*5)" "" ""
"0000730421" "00005992" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Gly329Asp)" "" ""
"0000730422" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730423" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730424" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730425" "00005992" "90" "1454" "0" "1454" "0" "c.1454C>T" "r.(?)" "p.(Ser485Phe)" "" ""
"0000730426" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730427" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730428" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730429" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730430" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730431" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730432" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730433" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730434" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730435" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730436" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730437" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730438" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730439" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730440" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730441" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" ""
"0000730442" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730443" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730444" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" ""
"0000730445" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730446" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730447" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730448" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730449" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730450" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730451" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730452" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730453" "00005992" "90" "1120" "0" "1120" "0" "c.1120G>A" "r.(?)" "p.(Asp374Asn)" "" ""
"0000730454" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730455" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730456" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730457" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730458" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" ""
"0000730459" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730460" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730461" "00005992" "90" "434" "0" "443" "0" "c.434_443del" "r.(?)" "p.(Arg145Profs*4)" "" ""
"0000730462" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730463" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730464" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730465" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730466" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730467" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730468" "00005992" "70" "395" "0" "395" "0" "c.395T>C" "r.(?)" "p.(Met132Thr)" "" ""
"0000730469" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730470" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" ""
"0000730471" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" ""
"0000730472" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" ""
"0000730473" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" ""
"0000730474" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730475" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730476" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730477" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" ""
"0000730478" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730479" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730480" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730481" "00005992" "90" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368His)" "" ""
"0000730482" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730492" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730493" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730494" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000730495" "00005992" "50" "1335" "0" "1335" "0" "c.1335C>T" "r.(?)" "p.(Phe445=)" "" ""
"0000730496" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" ""
"0000730497" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" ""
"0000730498" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" ""
"0000730499" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" ""
"0000730500" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" ""
"0000730501" "00005992" "90" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" ""
"0000730502" "00005992" "90" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368His)" "" ""
"0000730503" "00005992" "90" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368His)" "" ""
"0000797372" "00005992" "70" "1139" "0" "1139" "0" "c.1139A>G" "r.(?)" "p.(Tyr380Cys)" "" ""
"0000797373" "00005992" "70" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368His)" "" ""
"0000797374" "00005992" "70" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368His)" "" ""
"0000797375" "00005992" "70" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368His)" "" ""
"0000797376" "00005992" "70" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368His)" "" ""
"0000797377" "00005992" "70" "171" "0" "171" "0" "c.171G>A" "r.(?)" "p.(Trp57*)" "" ""
"0000797378" "00005992" "70" "868" "0" "868" "0" "c.868dup" "r.(?)" "p.(Arg290Profs*37)" "" ""
"0000797379" "00005992" "70" "862" "0" "862" "0" "c.862delinsCC" "r.(?)" "p.(Ala288Profs*39)" "" ""
"0000797380" "00005992" "70" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" ""
"0000797381" "00005992" "70" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Glu387Lys)" "" ""
"0000797382" "00005992" "70" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Ala383Thr)" "" ""
"0000797436" "00005992" "70" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000797437" "00005992" "70" "1064" "0" "1076" "0" "c.1064_1076del" "r.(?)" "p.(Arg355Hisfs*69)" "" ""
"0000797438" "00005992" "70" "290" "0" "290" "0" "c.290T>C" "r.(?)" "p.(Leu97Pro)" "" ""
"0000797439" "00005992" "70" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "" ""
"0000797440" "00005992" "70" "862" "0" "862" "0" "c.862delinsCC" "r.(?)" "p.(Ala288Profs*39)" "" ""
"0000797441" "00005992" "70" "317" "0" "317" "0" "c.317C>A" "r.(?)" "p.(Ala106Asp)" "" ""
"0000797442" "00005992" "70" "749" "0" "750" "0" "c.749_750delins13" "r.(?)" "p.Phe250Trpfs*4" "" ""
"0000797443" "00005992" "70" "745" "0" "746" "0" "c.745_746delinsC" "r.(?)" "p.(Tyr249Profs*29)" "" ""
"0000797444" "00005992" "70" "171" "0" "171" "0" "c.171G>A" "r.(?)" "p.(Trp57*)" "" ""
"0000812658" "00005992" "70" "890" "0" "890" "0" "c.890T>A" "r.(?)" "p.(Ile297Asn)" "" ""
"0000812659" "00005992" "70" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "" ""
"0000814393" "00005992" "70" "1330" "0" "1330" "0" "c.1330C>T" "r.(?)" "p.(Arg444Ter)" "" ""
"0000814408" "00005992" "70" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368His)" "" ""
"0000814450" "00005992" "50" "241" "0" "241" "0" "c.241T>A" "r.(?)" "p.(Tyr81Asn)" "" ""
"0000814457" "00005992" "70" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368His)" "" ""
"0000814471" "00005992" "70" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Glu387Lys)" "" ""
"0000829418" "00005992" "50" "-8388608" "0" "8388607" "0" "c.-23778260_*10697457dup" "r.0?" "p.0?" "" ""
"0000846661" "00005992" "50" "608" "0" "608" "0" "c.608A>G" "r.(?)" "p.(Asn203Ser)" "" ""
"0000849875" "00005992" "30" "11" "0" "11" "0" "c.11G>C" "r.(?)" "p.(Ser4Thr)" "" ""
"0000858517" "00005992" "30" "1235" "0" "1235" "0" "c.1235A>T" "r.(?)" "p.(Tyr412Phe)" "" ""
"0000921881" "00005992" "90" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "" ""
"0000921882" "00005992" "90" "171" "0" "171" "0" "c.171G>A" "r.(?)" "p.(Trp57Ter)" "" ""
"0000921883" "00005992" "90" "840" "0" "840" "0" "c.840C>A" "r.(?)" "p.(Cys280Ter)" "" ""
"0000921884" "00005992" "90" "1345" "0" "1345" "0" "c.1345del" "r.(?)" "p.(Asp449MetfsTer8)" "" ""
"0000921935" "00005992" "90" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Ala383Thr)" "" ""
"0000921936" "00005992" "90" "1168" "0" "1168" "0" "c.1168C>T" "r.(?)" "p.(Arg390Cys)" "" ""
"0000928592" "00005992" "90" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Gly61Glu)" "" ""
"0000947840" "00005992" "90" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Glu387Lys)" "" ""
"0000954764" "00005992" "70" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368His)" "" ""
"0000954765" "00005992" "90" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Glu229Lys)" "" ""
"0000954768" "00005992" "90" "241" "0" "241" "0" "c.241T>A" "r.(?)" "p.(Tyr81Asn)" "" ""
"0000954769" "00005992" "90" "868" "0" "868" "0" "c.868dup" "r.(?)" "p.(Arg290Profs*37)" "" ""
"0000954785" "00005992" "50" "319" "0" "319" "0" "c.319C>G" "r.(?)" "p.(Leu107Val)" "" ""
"0000957476" "00005992" "50" "319" "0" "319" "0" "c.319C>G" "r.(?)" "p.(Leu107Val)" "2" ""
"0000957477" "00005992" "50" "319" "0" "319" "0" "c.319C>G" "r.(?)" "p.(Leu107Val)" "2" ""
"0000962088" "00005992" "30" "-97" "0" "-97" "0" "c.-97dup" "r.(?)" "p.(=)" "" ""
"0000975257" "00005992" "50" "1319" "0" "1319" "0" "c.1319T>G" "r.(?)" "p.(Phe440Cys)" "" ""
"0000975258" "00005992" "50" "1010" "0" "1010" "0" "c.1010C>T" "r.(?)" "p.(Thr337Ile)" "" ""
"0000975259" "00005992" "50" "947" "0" "947" "0" "c.947A>T" "r.(?)" "p.(Asp316Val)" "" ""
"0000975260" "00005992" "30" "241" "0" "241" "0" "c.241T>A" "r.(?)" "p.(Tyr81Asn)" "" ""
"0000975261" "00005992" "50" "187" "0" "187" "0" "c.187G>C" "r.(?)" "p.(Ala63Pro)" "" ""
"0001033316" "00005992" "50" "572" "0" "572" "0" "c.572T>G" "r.(?)" "p.(Leu191Arg)" "" ""
"0001033317" "00005992" "50" "322" "0" "322" "0" "c.322G>A" "r.(?)" "p.(Val108Met)" "" ""
"0001033318" "00005992" "50" "155" "0" "155" "0" "c.155C>T" "r.(?)" "p.(Pro52Leu)" "" ""
"0001045830" "00005992" "50" "155" "0" "155" "0" "c.155C>T" "r.(?)" "p.(Pro52Leu)" "" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 585
"{{screeningid}}" "{{variantid}}"
"0000035545" "0000062664"
"0000035546" "0000062665"
"0000035547" "0000062666"
"0000035548" "0000062667"
"0000035549" "0000062668"
"0000035550" "0000062669"
"0000035551" "0000062670"
"0000035552" "0000062671"
"0000035553" "0000062672"
"0000051707" "0000081146"
"0000051708" "0000081147"
"0000051708" "0000081353"
"0000051709" "0000081148"
"0000051710" "0000081149"
"0000051711" "0000081150"
"0000051711" "0000081354"
"0000051712" "0000081151"
"0000051712" "0000081355"
"0000051712" "0000081356"
"0000051713" "0000081152"
"0000051713" "0000081357"
"0000051713" "0000081358"
"0000051713" "0000081359"
"0000051714" "0000081153"
"0000051714" "0000081360"
"0000051714" "0000081361"
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"0000051716" "0000081155"
"0000051717" "0000081156"
"0000051718" "0000081157"
"0000051719" "0000081158"
"0000051720" "0000081159"
"0000051721" "0000081160"
"0000051722" "0000081161"
"0000051723" "0000081162"
"0000051724" "0000081163"
"0000051725" "0000081164"
"0000051726" "0000081165"
"0000051727" "0000081166"
"0000051728" "0000081167"
"0000051729" "0000081168"
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"0000051731" "0000081170"
"0000051732" "0000081171"
"0000051733" "0000080902"
"0000051734" "0000081029"
"0000051735" "0000080996"
"0000051736" "0000080954"
"0000051737" "0000081172"
"0000051738" "0000080938"
"0000051738" "0000080939"
"0000051739" "0000081030"
"0000051740" "0000080990"
"0000051740" "0000080991"
"0000051741" "0000080988"
"0000051742" "0000080915"
"0000051742" "0000080916"
"0000051743" "0000081043"
"0000051744" "0000080956"
"0000051744" "0000080957"
"0000051745" "0000080989"
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"0000051747" "0000080934"
"0000051748" "0000080911"
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"0000051749" "0000080893"
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"0000051751" "0000081037"
"0000051751" "0000081038"
"0000051751" "0000081039"
"0000051751" "0000081040"
"0000051751" "0000081041"
"0000051752" "0000081019"
"0000051752" "0000081021"
"0000051752" "0000081022"
"0000051752" "0000081023"
"0000051752" "0000081024"
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"0000051753" "0000081025"
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"0000051753" "0000081027"
"0000051754" "0000081002"
"0000051754" "0000081003"
"0000051754" "0000081004"
"0000051754" "0000081005"
"0000051754" "0000081006"
"0000051754" "0000081007"
"0000051755" "0000080940"
"0000051755" "0000080942"
"0000051755" "0000080943"
"0000051755" "0000080944"
"0000051756" "0000080941"
"0000051756" "0000080945"
"0000051757" "0000080919"
"0000051757" "0000080920"
"0000051757" "0000080921"
"0000051758" "0000080794"
"0000051758" "0000080799"
"0000051758" "0000080800"
"0000051759" "0000080795"
"0000051759" "0000080801"
"0000051759" "0000080802"
"0000051759" "0000080803"
"0000051759" "0000080804"
"0000051759" "0000080805"
"0000051759" "0000080806"
"0000051760" "0000080796"
"0000051760" "0000080807"
"0000051760" "0000080808"
"0000051760" "0000080809"
"0000051760" "0000080810"
"0000051760" "0000080811"
"0000051761" "0000080797"
"0000051761" "0000080812"
"0000051761" "0000080813"
"0000051761" "0000080814"
"0000051761" "0000080815"
"0000051762" "0000080798"
"0000051762" "0000080816"
"0000051762" "0000080817"
"0000051762" "0000080818"
"0000051763" "0000080744"
"0000051764" "0000080745"
"0000051765" "0000081173"
"0000051766" "0000081174"
"0000051766" "0000081362"
"0000051767" "0000081175"
"0000051768" "0000081176"
"0000051769" "0000081177"
"0000051769" "0000081363"
"0000051770" "0000081178"
"0000051771" "0000081179"
"0000051772" "0000081017"
"0000051772" "0000081018"
"0000051773" "0000080950"
"0000051774" "0000081031"
"0000051774" "0000081033"
"0000051774" "0000081034"
"0000051774" "0000081035"
"0000051775" "0000080983"
"0000051775" "0000080984"
"0000051776" "0000080896"
"0000051776" "0000080897"
"0000051777" "0000080949"
"0000051778" "0000081000"
"0000051778" "0000081001"
"0000051779" "0000080948"
"0000051780" "0000080994"
"0000051780" "0000080995"
"0000051781" "0000080952"
"0000051782" "0000081032"
"0000051782" "0000081036"
"0000051783" "0000080953"
"0000051784" "0000081180"
"0000051784" "0000081364"
"0000051784" "0000081365"
"0000051785" "0000081181"
"0000051785" "0000081366"
"0000051786" "0000081182"
"0000051787" "0000081183"
"0000051787" "0000081368"
"0000051788" "0000081184"
"0000051788" "0000081369"
"0000051789" "0000081185"
"0000051790" "0000081186"
"0000051790" "0000081371"
"0000051791" "0000081187"
"0000051792" "0000081188"
"0000051792" "0000081420"
"0000051793" "0000081189"
"0000051794" "0000081190"
"0000051795" "0000081191"
"0000051796" "0000081192"
"0000051797" "0000081193"
"0000051798" "0000081194"
"0000051800" "0000081196"
"0000051801" "0000081197"
"0000051802" "0000081198"
"0000051803" "0000081199"
"0000051804" "0000081200"
"0000051806" "0000081202"
"0000051807" "0000081203"
"0000051808" "0000081204"
"0000051809" "0000081205"
"0000051812" "0000081208"
"0000051813" "0000081209"
"0000051815" "0000081211"
"0000051815" "0000081374"
"0000051816" "0000081212"
"0000051816" "0000081375"
"0000051818" "0000081214"
"0000051818" "0000081377"
"0000051819" "0000081215"
"0000051819" "0000081378"
"0000051820" "0000081216"
"0000051820" "0000081379"
"0000051821" "0000081217"
"0000051821" "0000081380"
"0000051822" "0000081218"
"0000051822" "0000081381"
"0000051823" "0000081219"
"0000051824" "0000081220"
"0000051824" "0000081383"
"0000051825" "0000081221"
"0000051825" "0000081384"
"0000051826" "0000081222"
"0000051826" "0000081385"
"0000051827" "0000081223"
"0000051827" "0000081386"
"0000051828" "0000081224"
"0000051828" "0000081387"
"0000051829" "0000081225"
"0000051829" "0000081388"
"0000051830" "0000081226"
"0000051830" "0000081389"
"0000051831" "0000081227"
"0000051831" "0000081390"
"0000051832" "0000081228"
"0000051832" "0000081391"
"0000051833" "0000081229"
"0000051833" "0000081392"
"0000051834" "0000081230"
"0000051834" "0000081393"
"0000051835" "0000081231"
"0000051835" "0000081394"
"0000051836" "0000081232"
"0000051836" "0000081395"
"0000051837" "0000081233"
"0000051837" "0000081396"
"0000051838" "0000081234"
"0000051838" "0000081397"
"0000051839" "0000081235"
"0000051839" "0000081398"
"0000051840" "0000081236"
"0000051840" "0000081399"
"0000051841" "0000081237"
"0000051841" "0000081400"
"0000051842" "0000081238"
"0000051842" "0000081401"
"0000051843" "0000081239"
"0000051843" "0000081402"
"0000051844" "0000081240"
"0000051845" "0000080609"
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