### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CYP2F1)
# 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}}"
"CYP2F1" "cytochrome P450, family 2, subfamily F, polypeptide 1" "19" "q13.1-q13.2" "unknown" "NG_007930.1" "UD_132119158293" "" "http://www.LOVD.nl/CYP2F1" "Human Cytochrome P450 (CYP)Allele Nomenclature Committee \r\nPharmGKB CYP2F1 " "1" "2632" "1572" "124070" "1" "1" "1" "1" "CYP2F1 reference haplotypes" "" "g" "http://databases.lovd.nl/shared/refseq/CYP2F1_codingDNA.html" "1" "" "CYP2F1 reference haplotypes" "-1" "" "-1" "00001" "2013-04-22 00:00:00" "00006" "2015-05-15 18:18:15" "00000" "2020-07-15 18:57:45"
## 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}}"
"00006006" "CYP2F1" "cytochrome P450, family 2, subfamily F, polypeptide 1" "004" "NM_000774.3" "" "NP_000765.2" "" "" "" "-56" "1770" "1476" "41620353" "41634281" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{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" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Individuals ## Do not remove or alter this header ##
## Count = 16
"{{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}}"
"00038535" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038536" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038537" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038538" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038539" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038540" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038541" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038542" "" "" "" "1" "" "01294" "" "reference haplotype" "-" "-" "" "" "0" "" "" "" ""
"00038543" "" "" "" "102" "" "00006" "{PMID:Tournel 2007:17327131}" "lung cancer patients (44), control individuals (46)" "-" "-" "France" "" "0" "" "" "" ""
"00038544" "" "" "" "46" "" "00006" "{PMID:Tournel 2007:17327131}" "lung cancer patients (44), control individuals (46)" "-" "-" "France" "" "0" "" "" "" ""
"00038545" "" "" "" "1" "" "00006" "{PMID:Tournel 2007:17327131}" "lung cancer patients (44), control individuals (46)" "-" "-" "France" "" "0" "" "" "" ""
"00038546" "" "" "" "13" "" "00006" "{PMID:Tournel 2007:17327131}" "lung cancer patients (44), control individuals (46)" "-" "-" "France" "" "0" "" "" "" ""
"00038547" "" "" "" "5" "" "00006" "{PMID:Tournel 2007:17327131}" "lung cancer patients (44), control individuals (46)" "-" "-" "France" "" "0" "" "" "" ""
"00038548" "" "" "" "11" "" "00006" "{PMID:Tournel 2007:17327131}" "lung cancer patients (44), control individuals (46)" "-" "-" "France" "" "0" "" "" "" ""
"00038549" "" "" "" "1" "" "00006" "{PMID:Tournel 2007:17327131}" "lung cancer patients (44), control individuals (46)" "-" "-" "France" "" "0" "" "" "" ""
"00038550" "" "" "" "1" "" "00006" "{PMID:Tournel 2007:17327131}" "lung cancer patients (44), control individuals (46)" "-" "-" "France" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 16
"{{individualid}}" "{{diseaseid}}"
"00038535" "00000"
"00038536" "00000"
"00038537" "00000"
"00038538" "00000"
"00038539" "00000"
"00038540" "00000"
"00038541" "00000"
"00038542" "00000"
"00038543" "00000"
"00038544" "00000"
"00038545" "00000"
"00038546" "00000"
"00038547" "00000"
"00038548" "00000"
"00038549" "00000"
"00038550" "00000"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000
## Count = 0
## Screenings ## Do not remove or alter this header ##
## Count = 16
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000038783" "00038535" "1" "01294" "00006" "2013-06-03 13:37:22" "" "" "SEQ" "DNA" "" ""
"0000038784" "00038536" "1" "01294" "00006" "2013-06-03 13:37:22" "" "" "SEQ" "DNA" "" ""
"0000038785" "00038537" "1" "01294" "00006" "2013-06-03 13:37:22" "" "" "SEQ" "DNA" "" ""
"0000038786" "00038538" "1" "01294" "00006" "2013-06-03 13:37:22" "" "" "SEQ" "DNA" "" ""
"0000038787" "00038539" "1" "01294" "00006" "2013-06-03 13:37:22" "" "" "SEQ" "DNA" "" ""
"0000038788" "00038540" "1" "01294" "00006" "2013-06-03 13:37:22" "" "" "SEQ" "DNA" "" ""
"0000038789" "00038541" "1" "01294" "00006" "2013-06-03 13:37:22" "" "" "SEQ" "DNA" "" ""
"0000038790" "00038542" "1" "01294" "00006" "2013-06-03 13:37:22" "" "" "SEQ" "DNA" "" ""
"0000038791" "00038543" "1" "01294" "00006" "2013-06-03 13:37:22" "" "" "SSCA;SEQ" "DNA" "" ""
"0000038792" "00038544" "1" "01294" "00006" "2013-06-03 13:37:22" "" "" "SSCA;SEQ" "DNA" "" ""
"0000038793" "00038545" "1" "01294" "00006" "2013-06-03 13:37:22" "" "" "SSCA;SEQ" "DNA" "" ""
"0000038794" "00038546" "1" "01294" "00006" "2013-06-03 13:37:22" "" "" "SSCA;SEQ" "DNA" "" ""
"0000038795" "00038547" "1" "01294" "00006" "2013-06-03 13:37:22" "" "" "SSCA;SEQ" "DNA" "" ""
"0000038796" "00038548" "1" "01294" "00006" "2013-06-03 13:37:22" "" "" "SSCA;SEQ" "DNA" "" ""
"0000038797" "00038549" "1" "01294" "00006" "2013-06-03 13:37:22" "" "" "SSCA;SEQ" "DNA" "" ""
"0000038798" "00038550" "1" "01294" "00006" "2013-06-03 13:37:22" "" "" "SSCA;SEQ" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 16
"{{screeningid}}" "{{geneid}}"
"0000038783" "CYP2F1"
"0000038784" "CYP2F1"
"0000038785" "CYP2F1"
"0000038786" "CYP2F1"
"0000038787" "CYP2F1"
"0000038788" "CYP2F1"
"0000038789" "CYP2F1"
"0000038790" "CYP2F1"
"0000038791" "CYP2F1"
"0000038792" "CYP2F1"
"0000038793" "CYP2F1"
"0000038794" "CYP2F1"
"0000038795" "CYP2F1"
"0000038796" "CYP2F1"
"0000038797" "CYP2F1"
"0000038798" "CYP2F1"
## 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 = 80
"{{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}}"
"0000066463" "1" "11" "19" "41622094" "41633987" "" "0" "01294" "CYP2F1_000001" "g.41622094_41633987=" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "" "reference haplotype CYP2F1*1\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "-" "" "0" "" "" "" "" "benign" ""
"0000066464" "1" "50" "19" "41620053" "41620053" "subst" "0" "01294" "CYP2F1_000002" "g.41620053G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-2041G>A" "reference haplotype CYP2F1*2A" "Germline" "-" "rs35107873" "0" "" "" "g.41114148G>A" "" "VUS" ""
"0000066465" "1" "50" "19" "41620053" "41620053" "subst" "0" "01294" "CYP2F1_000002" "g.41620053G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-2041G>A" "reference haplotype CYP2F1*2B" "Germline" "-" "rs35107873" "0" "" "" "g.41114148G>A" "" "VUS" ""
"0000066466" "1" "50" "19" "41620061" "41620061" "del" "0" "01294" "CYP2F1_000003" "g.41620061del" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-2033delC" "reference haplotype CYP2F1*2A" "Germline" "-" "rs34903717" "0" "" "" "g.41114156del" "" "VUS" ""
"0000066467" "1" "50" "19" "41620061" "41620061" "del" "0" "01294" "CYP2F1_000003" "g.41620061del" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-2033delC" "reference haplotype CYP2F1*2B" "Germline" "-" "rs34903717" "0" "" "" "g.41114156del" "" "VUS" ""
"0000066468" "1" "30" "19" "41620419" "41620419" "subst" "0" "01294" "CYP2F1_000004" "g.41620419G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-1675G>A" "reference haplotype CYP2F1*2A" "Germline" "-" "rs2287940" "0" "" "" "g.41114514G>A" "" "likely benign" ""
"0000066469" "1" "30" "19" "41620419" "41620419" "subst" "0" "01294" "CYP2F1_000004" "g.41620419G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-1675G>A" "reference haplotype CYP2F1*2B" "Germline" "-" "rs2287940" "0" "" "" "g.41114514G>A" "" "likely benign" ""
"0000066470" "1" "50" "19" "41622108" "41622108" "dup" "0" "01294" "CYP2F1_000005" "g.41622108dup" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "14_15insC (5fs)" "reference haplotype CYP2F1*2A" "Germline" "-" "rs3833221" "0" "" "" "g.41116203dup" "" "VUS" ""
"0000066471" "1" "50" "19" "41622108" "41622108" "dup" "0" "01294" "CYP2F1_000005" "g.41622108dup" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "14_15insC (5fs)" "reference haplotype CYP2F1*2B" "Germline" "-" "rs3833221" "0" "" "" "g.41116203dup" "" "VUS" ""
"0000066472" "1" "30" "19" "41622189" "41622189" "subst" "0.358395" "01294" "CYP2F1_000006" "g.41622189G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "96G>A" "reference haplotype CYP2F1*2A" "Germline" "-" "rs305968" "0" "" "" "g.41116284G>A" "" "likely benign" ""
"0000066473" "1" "30" "19" "41622189" "41622189" "subst" "0.358395" "01294" "CYP2F1_000006" "g.41622189G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "96G>A" "reference haplotype CYP2F1*2B" "Germline" "-" "rs305968" "0" "" "" "g.41116284G>A" "" "likely benign" ""
"0000066474" "1" "30" "19" "41622189" "41622189" "subst" "0.358395" "01294" "CYP2F1_000006" "g.41622189G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "96G>A" "reference haplotype CYP2F1*3" "Germline" "-" "rs305968" "0" "" "" "g.41116284G>A" "" "likely benign" ""
"0000066475" "1" "30" "19" "41622189" "41622189" "subst" "0.358395" "01294" "CYP2F1_000006" "g.41622189G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "96G>A" "reference haplotype CYP2F1*4" "Germline" "-" "rs305968" "0" "" "" "g.41116284G>A" "" "likely benign" ""
"0000066476" "1" "30" "19" "41627868" "41627868" "subst" "0.347676" "01294" "CYP2F1_000007" "g.41627868G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5773G>A" "reference haplotype CYP2F1*2A" "Germline" "-" "rs80319612" "0" "" "" "g.41121963G>A" "" "likely benign" ""
"0000066477" "1" "30" "19" "41627868" "41627868" "subst" "0.347676" "01294" "CYP2F1_000007" "g.41627868G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "96G>A; 5773G>A" "reference haplotype CYP2F1*2B" "Germline" "-" "rs80319612" "0" "" "" "g.41121963G>A" "" "likely benign" ""
"0000066478" "1" "50" "19" "41627868" "41627868" "subst" "0.347676" "01294" "CYP2F1_000007" "g.41627868G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5773G>A" "reference haplotype CYP2F1*3" "Germline" "-" "rs80319612" "0" "" "" "g.41121963G>A" "" "VUS" ""
"0000066479" "1" "50" "19" "41627868" "41627868" "subst" "0.347676" "01294" "CYP2F1_000007" "g.41627868G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5773G>A" "reference haplotype CYP2F1*4" "Germline" "-" "rs80319612" "0" "" "" "g.41121963G>A" "" "VUS" ""
"0000066480" "1" "30" "19" "41628014" "41628014" "subst" "0.0651036" "01294" "CYP2F1_000008" "g.41628014G>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5921G>C" "reference haplotype CYP2F1*2A" "Germline" "-" "rs75405062" "0" "" "" "g.41122109G>C" "" "likely benign" ""
"0000066481" "1" "30" "19" "41628014" "41628014" "subst" "0.0651036" "01294" "CYP2F1_000008" "g.41628014G>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5921G>C" "reference haplotype CYP2F1*2B" "Germline" "-" "rs75405062" "0" "" "" "g.41122109G>C" "" "likely benign" ""
"0000066482" "1" "50" "19" "41628014" "41628014" "subst" "0.0651036" "01294" "CYP2F1_000008" "g.41628014G>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5921G>C" "reference haplotype CYP2F1*3" "Germline" "-" "rs75405062" "0" "" "" "g.41122109G>C" "" "VUS" ""
"0000066483" "1" "30" "19" "41628677" "41628677" "subst" "0.239226" "01294" "CYP2F1_000009" "g.41628677T>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "6584T>G" "reference haplotype CYP2F1*2A" "Germline" "-" "rs305975" "0" "" "" "g.41122772T>G" "" "likely benign" ""
"0000066484" "1" "30" "19" "41628677" "41628677" "subst" "0.239226" "01294" "CYP2F1_000009" "g.41628677T>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "6584T>G" "reference haplotype CYP2F1*2B" "Germline" "-" "rs305975" "0" "" "" "g.41122772T>G" "" "likely benign" ""
"0000066485" "1" "30" "19" "41628677" "41628677" "subst" "0.239226" "01294" "CYP2F1_000009" "g.41628677T>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "6584T>G" "reference haplotype CYP2F1*4" "Germline" "-" "rs305975" "0" "" "" "g.41122772T>G" "" "likely benign" ""
"0000066486" "1" "30" "19" "41631415" "41631415" "subst" "0.23778" "01294" "CYP2F1_000010" "g.41631415C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "9322C>A" "reference haplotype CYP2F1*2A" "Germline" "-" "rs137939255" "0" "" "" "g.41125510C>A" "" "likely benign" ""
"0000066487" "1" "30" "19" "41631415" "41631415" "subst" "0.23778" "01294" "CYP2F1_000010" "g.41631415C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "9322C>A" "reference haplotype CYP2F1*2B" "Germline" "-" "rs137939255" "0" "" "" "g.41125510C>A" "" "likely benign" ""
"0000066488" "1" "30" "19" "41631415" "41631415" "subst" "0.23778" "01294" "CYP2F1_000010" "g.41631415C>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "9322C>A" "reference haplotype CYP2F1*3" "Germline" "-" "rs137939255" "0" "" "" "g.41125510C>A" "" "likely benign" ""
"0000066489" "1" "30" "19" "41631403" "41631403" "subst" "0.00046982" "01294" "CYP2F1_000011" "g.41631403C>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "9310C>T" "reference haplotype CYP2F1*2B" "Germline" "-" "rs201789202" "0" "" "" "g.41125498C>T" "" "likely benign" ""
"0000066490" "1" "50" "19" "41619751" "41619751" "subst" "0" "01294" "CYP2F1_000012" "g.41619751A>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-2343A>G" "reference haplotype CYP2F1*3" "Germline" "-" "rs1709114" "0" "" "" "g.41113846A>G" "" "VUS" ""
"0000066491" "1" "50" "19" "41619850" "41619850" "subst" "0" "01294" "CYP2F1_000013" "g.41619850C>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-2244C>T" "reference haplotype CYP2F1*3" "Germline" "-" "rs62117444" "0" "" "" "g.41113945C>T" "" "VUS" ""
"0000066492" "1" "30" "19" "41620410" "41620410" "subst" "0" "01294" "CYP2F1_000014" "g.41620410G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "-1684G>A" "reference haplotype CYP2F1*3" "Germline" "-" "rs1645712" "0" "" "" "g.41114505G>A" "" "likely benign" ""
"0000066493" "1" "30" "19" "41627548" "41627548" "subst" "0.0912122" "01294" "CYP2F1_000015" "g.41627548G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5455G>A" "reference haplotype CYP2F1*3" "Germline" "-" "rs191940398" "0" "" "" "g.41121643G>A" "" "likely benign" ""
"0000066494" "1" "30" "19" "41627550" "41627550" "subst" "0.0904054" "01294" "CYP2F1_000016" "g.41627550A>G" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5457A>G" "reference haplotype CYP2F1*3" "Germline" "-" "rs199600778" "0" "" "" "g.41121645A>G" "" "likely benign" ""
"0000066495" "1" "30" "19" "41627553" "41627553" "subst" "0.0901872" "01294" "CYP2F1_000017" "g.41627553G>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "5460G>C" "reference haplotype CYP2F1*3" "Germline" "-" "rs200646568" "0" "" "" "g.41121648G>C" "" "likely benign" ""
"0000066496" "1" "50" "19" "41633980" "41633980" "subst" "0.0761689" "01294" "CYP2F1_000018" "g.41633980C>T" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "11887C>T" "reference haplotype CYP2F1*3" "Germline" "-" "rs7246981" "0" "" "" "g.41128075C>T" "" "VUS" ""
"0000066497" "1" "50" "19" "41622205" "41622205" "subst" "0.0630262" "01294" "CYP2F1_000019" "g.41622205T>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "112T>C" "reference haplotype CYP2F1*4" "Germline" "-" "rs58285195" "0" "" "" "g.41116300T>C" "" "VUS" ""
"0000066498" "1" "70" "19" "41622267" "41622267" "subst" "0.0628416" "01294" "CYP2F1_000020" "g.41622267G>A" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "174G>A" "reference haplotype CYP2F1*4" "Germline" "-" "rs74824096" "0" "" "" "g.41116362G>A" "" "likely pathogenic" ""
"0000066499" "1" "50" "19" "41631417" "41631417" "subst" "0.065361" "01294" "CYP2F1_000021" "g.41631417T>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "9324T>C" "reference haplotype CYP2F1*5A" "Germline" "-" "rs144315434" "0" "" "" "g.41125512T>C" "" "VUS" ""
"0000066500" "1" "50" "19" "41631417" "41631417" "subst" "0.065361" "01294" "CYP2F1_000021" "g.41631417T>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "9324T>C" "reference haplotype CYP2F1*5B" "Germline" "-" "rs144315434" "0" "" "" "g.41125512T>C" "" "VUS" ""
"0000066501" "1" "30" "19" "41628686" "41628688" "delins" "0" "01294" "CYP2F1_000022" "g.41628686_41628688delinsTCA" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "6593_6595CTC>TCA" "reference haplotype CYP2F1*5B" "Germline" "-" "" "0" "" "" "g.41122781_41122783delinsTCA" "" "likely benign" ""
"0000066502" "1" "50" "19" "41622481" "41622481" "subst" "0.0100675" "01294" "CYP2F1_000023" "g.41622481G>C" "" "Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee" "" "388G>C" "reference haplotype CYP2F1*6" "Germline" "-" "rs57670668" "0" "" "" "g.41116576G>C" "" "VUS" ""
"0000066507" "1" "50" "19" "41622094" "41633987" "" "0" "00006" "CYP2F1_000001" "g.41622094_41633987=" "102/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "29 homozygous individuals, 27 *1/*2A, 1 *1/*2B, 6 *1/*3, 5 *1/4, 4 *1/*5A, 1 *1/*6\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000066508" "1" "50" "19" "41620053" "41620053" "subst" "0" "00006" "CYP2F1_000002" "g.41620053G>A" "46/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "6 homozygous individuals, 27 *1/*2A, 4 *2A/*3, 3 *2A/*5A" "Germline" "" "" "0" "" "" "g.41114148G>A" "" "VUS" ""
"0000066509" "1" "50" "19" "41631403" "41631403" "subst" "0.00046982" "00006" "CYP2F1_000011" "g.41631403C>T" "1/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 *1/2B individual" "Germline" "" "" "0" "" "" "g.41125498C>T" "" "VUS" ""
"0000066510" "1" "50" "19" "41622189" "41622189" "subst" "0.358395" "00006" "CYP2F1_000006" "g.41622189G>A" "13/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 homozygous individuals, 6 *1/*3, 4 *2A/*3, 1 *3/*5A" "Germline" "" "" "0" "" "" "g.41116284G>A" "" "VUS" ""
"0000066511" "1" "50" "19" "41622267" "41622267" "subst" "0.0628416" "00006" "CYP2F1_000020" "g.41622267G>A" "5/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "5 *1/*4 individuals" "Germline" "" "" "0" "" "" "g.41116362G>A" "" "VUS" ""
"0000066512" "1" "50" "19" "41631417" "41631417" "subst" "0.065361" "00006" "CYP2F1_000021" "g.41631417T>C" "11/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 homozygous individual, 4, *1A/*5A, 3 *2A/*5A, 1 *3/*5A, 1 *5A/*5B" "Germline" "" "" "0" "" "" "g.41125512T>C" "" "VUS" ""
"0000066513" "1" "50" "19" "41628686" "41628688" "delins" "0" "00006" "CYP2F1_000022" "g.41628686_41628688delinsTCA" "1/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 *5A/*5B individual" "Germline" "" "" "0" "" "" "g.41122781_41122783delinsTCA" "" "VUS" ""
"0000066514" "1" "50" "19" "41622481" "41622481" "subst" "0.0100675" "00006" "CYP2F1_000023" "g.41622481G>C" "1/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 *1/*6 individual" "Germline" "" "" "0" "" "" "g.41116576G>C" "" "VUS" ""
"0000066515" "1" "50" "19" "41620061" "41620061" "del" "0" "00006" "CYP2F1_000003" "g.41620061del" "46/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "6 homozygous individuals, 27 *1/*2A, 4 *2A/*3, 3 *2A/*5A" "Germline" "" "" "0" "" "" "g.41114156del" "" "VUS" ""
"0000066516" "1" "50" "19" "41620419" "41620419" "subst" "0" "00006" "CYP2F1_000004" "g.41620419G>A" "46/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "6 homozygous individuals, 27 *1/*2A, 4 *2A/*3, 3 *2A/*5A" "Germline" "" "" "0" "" "" "g.41114514G>A" "" "VUS" ""
"0000066517" "1" "50" "19" "41622108" "41622108" "dup" "0" "00006" "CYP2F1_000005" "g.41622108dup" "46/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "6 homozygous individuals, 27 *1/*2A, 4 *2A/*3, 3 *2A/*5A" "Germline" "" "" "0" "" "" "g.41116203dup" "" "VUS" ""
"0000066518" "1" "50" "19" "41622189" "41622189" "subst" "0.358395" "00006" "CYP2F1_000006" "g.41622189G>A" "46/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "6 homozygous individuals, 27 *1/*2A, 4 *2A/*3, 3 *2A/*5A" "Germline" "" "" "0" "" "" "g.41116284G>A" "" "VUS" ""
"0000066519" "1" "50" "19" "41627868" "41627868" "subst" "0.347676" "00006" "CYP2F1_000007" "g.41627868G>A" "46/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "6 homozygous individuals, 27 *1/*2A, 4 *2A/*3, 3 *2A/*5A" "Germline" "" "" "0" "" "" "g.41121963G>A" "" "VUS" ""
"0000066520" "1" "50" "19" "41628014" "41628014" "subst" "0.0651036" "00006" "CYP2F1_000008" "g.41628014G>C" "46/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "6 homozygous individuals, 27 *1/*2A, 4 *2A/*3, 3 *2A/*5A" "Germline" "" "" "0" "" "" "g.41122109G>C" "" "VUS" ""
"0000066521" "1" "50" "19" "41628677" "41628677" "subst" "0.239226" "00006" "CYP2F1_000009" "g.41628677T>G" "46/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "6 homozygous individuals, 27 *1/*2A, 4 *2A/*3, 3 *2A/*5A" "Germline" "" "" "0" "" "" "g.41122772T>G" "" "VUS" ""
"0000066522" "1" "50" "19" "41631415" "41631415" "subst" "0.23778" "00006" "CYP2F1_000010" "g.41631415C>A" "46/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "6 homozygous individuals, 27 *1/*2A, 4 *2A/*3, 3 *2A/*5A" "Germline" "" "" "0" "" "" "g.41125510C>A" "" "VUS" ""
"0000066523" "1" "50" "19" "41620053" "41620053" "subst" "0" "00006" "CYP2F1_000002" "g.41620053G>A" "1/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 *1/2B individual" "Germline" "" "" "0" "" "" "g.41114148G>A" "" "VUS" ""
"0000066524" "1" "50" "19" "41620061" "41620061" "del" "0" "00006" "CYP2F1_000003" "g.41620061del" "1/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 *1/2B individual" "Germline" "" "" "0" "" "" "g.41114156del" "" "VUS" ""
"0000066525" "1" "50" "19" "41620419" "41620419" "subst" "0" "00006" "CYP2F1_000004" "g.41620419G>A" "1/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 *1/2B individual" "Germline" "" "" "0" "" "" "g.41114514G>A" "" "VUS" ""
"0000066526" "1" "50" "19" "41622108" "41622108" "dup" "0" "00006" "CYP2F1_000005" "g.41622108dup" "1/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 *1/2B individual" "Germline" "" "" "0" "" "" "g.41116203dup" "" "VUS" ""
"0000066527" "1" "50" "19" "41622189" "41622189" "subst" "0.358395" "00006" "CYP2F1_000006" "g.41622189G>A" "1/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 *1/2B individual" "Germline" "" "" "0" "" "" "g.41116284G>A" "" "VUS" ""
"0000066528" "1" "50" "19" "41627868" "41627868" "subst" "0.347676" "00006" "CYP2F1_000007" "g.41627868G>A" "1/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 *1/2B individual" "Germline" "" "" "0" "" "" "g.41121963G>A" "" "VUS" ""
"0000066529" "1" "50" "19" "41628014" "41628014" "subst" "0.0651036" "00006" "CYP2F1_000008" "g.41628014G>C" "1/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 *1/2B individual" "Germline" "" "" "0" "" "" "g.41122109G>C" "" "VUS" ""
"0000066530" "1" "50" "19" "41628677" "41628677" "subst" "0.239226" "00006" "CYP2F1_000009" "g.41628677T>G" "1/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 *1/2B individual" "Germline" "" "" "0" "" "" "g.41122772T>G" "" "VUS" ""
"0000066531" "1" "50" "19" "41631415" "41631415" "subst" "0.23778" "00006" "CYP2F1_000010" "g.41631415C>A" "1/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 *1/2B individual" "Germline" "" "" "0" "" "" "g.41125510C>A" "" "VUS" ""
"0000066532" "1" "50" "19" "41627868" "41627868" "subst" "0.347676" "00006" "CYP2F1_000007" "g.41627868G>A" "13/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 homozygous individuals, 6 *1/*3, 4 *2A/*3, 1 *3/*5A" "Germline" "" "" "0" "" "" "g.41121963G>A" "" "VUS" ""
"0000066533" "1" "50" "19" "41628014" "41628014" "subst" "0.0651036" "00006" "CYP2F1_000008" "g.41628014G>C" "13/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 homozygous individuals, 6 *1/*3, 4 *2A/*3, 1 *3/*5A" "Germline" "" "" "0" "" "" "g.41122109G>C" "" "VUS" ""
"0000066534" "1" "50" "19" "41631415" "41631415" "subst" "0.23778" "00006" "CYP2F1_000010" "g.41631415C>A" "13/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 homozygous individuals, 6 *1/*3, 4 *2A/*3, 1 *3/*5A" "Germline" "" "" "0" "" "" "g.41125510C>A" "" "VUS" ""
"0000066535" "1" "50" "19" "41619751" "41619751" "subst" "0" "00006" "CYP2F1_000012" "g.41619751A>G" "13/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 homozygous individuals, 6 *1/*3, 4 *2A/*3, 1 *3/*5A" "Germline" "" "" "0" "" "" "g.41113846A>G" "" "VUS" ""
"0000066536" "1" "50" "19" "41619850" "41619850" "subst" "0" "00006" "CYP2F1_000013" "g.41619850C>T" "13/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 homozygous individuals, 6 *1/*3, 4 *2A/*3, 1 *3/*5A" "Germline" "" "" "0" "" "" "g.41113945C>T" "" "VUS" ""
"0000066537" "1" "50" "19" "41620410" "41620410" "subst" "0" "00006" "CYP2F1_000014" "g.41620410G>A" "13/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 homozygous individuals, 6 *1/*3, 4 *2A/*3, 1 *3/*5A" "Germline" "" "" "0" "" "" "g.41114505G>A" "" "VUS" ""
"0000066538" "1" "50" "19" "41627548" "41627548" "subst" "0.0912122" "00006" "CYP2F1_000015" "g.41627548G>A" "13/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 homozygous individuals, 6 *1/*3, 4 *2A/*3, 1 *3/*5A" "Germline" "" "" "0" "" "" "g.41121643G>A" "" "VUS" ""
"0000066539" "1" "50" "19" "41627550" "41627550" "subst" "0.0904054" "00006" "CYP2F1_000016" "g.41627550A>G" "13/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 homozygous individuals, 6 *1/*3, 4 *2A/*3, 1 *3/*5A" "Germline" "" "" "0" "" "" "g.41121645A>G" "" "VUS" ""
"0000066540" "1" "50" "19" "41627553" "41627553" "subst" "0.0901872" "00006" "CYP2F1_000017" "g.41627553G>C" "13/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 homozygous individuals, 6 *1/*3, 4 *2A/*3, 1 *3/*5A" "Germline" "" "" "0" "" "" "g.41121648G>C" "" "VUS" ""
"0000066541" "1" "50" "19" "41633980" "41633980" "subst" "0.0761689" "00006" "CYP2F1_000018" "g.41633980C>T" "13/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 homozygous individuals, 6 *1/*3, 4 *2A/*3, 1 *3/*5A" "Germline" "" "" "0" "" "" "g.41128075C>T" "" "VUS" ""
"0000066542" "1" "50" "19" "41622189" "41622189" "subst" "0.358395" "00006" "CYP2F1_000006" "g.41622189G>A" "5/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "5 *1/*4 individuals" "Germline" "" "" "0" "" "" "g.41116284G>A" "" "VUS" ""
"0000066543" "1" "50" "19" "41627868" "41627868" "subst" "0.347676" "00006" "CYP2F1_000007" "g.41627868G>A" "5/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "5 *1/*4 individuals" "Germline" "" "" "0" "" "" "g.41121963G>A" "" "VUS" ""
"0000066544" "1" "50" "19" "41628677" "41628677" "subst" "0.239226" "00006" "CYP2F1_000009" "g.41628677T>G" "5/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "5 *1/*4 individuals" "Germline" "" "" "0" "" "" "g.41122772T>G" "" "VUS" ""
"0000066545" "1" "50" "19" "41622205" "41622205" "subst" "0.0630262" "00006" "CYP2F1_000019" "g.41622205T>C" "5/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "5 *1/*4 individuals" "Germline" "" "" "0" "" "" "g.41116300T>C" "" "VUS" ""
"0000066546" "1" "50" "19" "41631417" "41631417" "subst" "0.065361" "00006" "CYP2F1_000021" "g.41631417T>C" "1/180 chromosomes" "{PMID:Tournel 2007:17327131}" "" "" "1 *5A/*5B individual" "Germline" "" "" "0" "" "" "g.41125512T>C" "" "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 CYP2F1
## Count = 80
"{{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}}"
"0000066463" "00006006" "11" "0" "0" "0" "0" "c.=" "r.=" "p.=" "1_10" "CYP2F1*1"
"0000066464" "00006006" "50" "-356" "0" "-356" "0" "c.-356G>A" "r.(?)" "-" "_1" "CYP2F1*2A"
"0000066465" "00006006" "50" "-356" "0" "-356" "0" "c.-356G>A" "r.(?)" "-" "_1" "CYP2F1*2B"
"0000066466" "00006006" "50" "-348" "0" "-348" "0" "c.-348delC" "r.(?)" "-" "_1" "CYP2F1*2A"
"0000066467" "00006006" "50" "-348" "0" "-348" "0" "c.-348delC" "r.(?)" "-" "_1" "CYP2F1*2B"
"0000066468" "00006006" "30" "-12" "22" "-12" "22" "c.-12+22G>A" "r.(?)" "p.(=)" "1i" "CYP2F1*2A"
"0000066469" "00006006" "30" "-12" "22" "-12" "22" "c.-12+22G>A" "r.(?)" "p.(=)" "1i" "CYP2F1*2B"
"0000066470" "00006006" "50" "15" "0" "15" "0" "c.15dup" "r.(?)" "p.Thr6Hisfs*22" "2" "CYP2F1*2A"
"0000066471" "00006006" "50" "15" "0" "15" "0" "c.15dup" "r.(?)" "p.Thr6Hisfs*22" "2" "CYP2F1*2B"
"0000066472" "00006006" "30" "96" "0" "96" "0" "c.96G>A" "r.(?)" "p.(Pro32=)" "2" "CYP2F1*2A"
"0000066473" "00006006" "30" "96" "0" "96" "0" "c.96G>A" "r.(?)" "p.(Pro32=)" "2" "CYP2F1*2B"
"0000066474" "00006006" "30" "96" "0" "96" "0" "c.96G>A" "r.(?)" "p.Pro32=" "2" "CYP2F1*3"
"0000066475" "00006006" "30" "96" "0" "96" "0" "c.96G>A" "r.(?)" "p.Pro32=" "2" "CYP2F1*4"
"0000066476" "00006006" "30" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.(Asp218Asn)" "6" "CYP2F1*2A"
"0000066477" "00006006" "30" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.(Asp218Asn)" "6" "CYP2F1*2B"
"0000066478" "00006006" "50" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.Asp218Asn" "6" "CYP2F1*3"
"0000066479" "00006006" "50" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.Asp218Asn" "6" "CYP2F1*4"
"0000066480" "00006006" "30" "798" "0" "798" "0" "c.798G>C" "r.(?)" "p.(Gln266His)" "6" "CYP2F1*2A"
"0000066481" "00006006" "30" "798" "0" "798" "0" "c.798G>C" "r.(?)" "p.(Gln266His)" "6" "CYP2F1*2B"
"0000066482" "00006006" "50" "798" "0" "798" "0" "c.798G>C" "r.(?)" "p.Gln266His" "6" "CYP2F1*3"
"0000066483" "00006006" "30" "823" "-50" "823" "-50" "c.823-50T>G" "r.(?)" "p.(=)" "6i" "CYP2F1*2A"
"0000066484" "00006006" "30" "823" "-50" "823" "-50" "c.823-50T>G" "r.(?)" "p.(=)" "6i" "CYP2F1*2B"
"0000066485" "00006006" "30" "823" "-50" "823" "-50" "c.823-50T>G" "r.(?)" "p.=" "6i" "CYP2F1*4"
"0000066486" "00006006" "30" "1170" "0" "1170" "0" "c.1170C>A" "r.(?)" "p.(Thr390=)" "9" "CYP2F1*2A"
"0000066487" "00006006" "30" "1170" "0" "1170" "0" "c.1170C>A" "r.(?)" "p.(Thr390=)" "9" "CYP2F1*2B"
"0000066488" "00006006" "30" "1170" "0" "1170" "0" "c.1170C>A" "r.(?)" "p.=" "9" "CYP2F1*3"
"0000066489" "00006006" "30" "1158" "0" "1158" "0" "c.1158C>T" "r.(?)" "p.(Thr386=)" "9" "CYP2F1*2B"
"0000066490" "00006006" "50" "-658" "0" "-658" "0" "c.-658A>G" "r.(?)" "p.=" "_1" "CYP2F1*3"
"0000066491" "00006006" "50" "-559" "0" "-559" "0" "c.-559C>T" "r.(?)" "p.=" "_1" "CYP2F1*3"
"0000066492" "00006006" "30" "-12" "13" "-12" "13" "c.-12+13G>A" "r.(?)" "p.=" "1i" "CYP2F1*3"
"0000066493" "00006006" "30" "645" "25" "645" "25" "c.645+25G>A" "r.(?)" "p.=" "5i" "CYP2F1*3"
"0000066494" "00006006" "30" "645" "27" "645" "27" "c.645+27A>G" "r.(?)" "p.=" "5i" "CYP2F1*3"
"0000066495" "00006006" "30" "645" "30" "645" "30" "c.645+30G>C" "r.(?)" "p.=" "5i" "CYP2F1*3"
"0000066496" "00006006" "50" "1469" "0" "1469" "0" "c.1469C>T" "r.(?)" "p.Pro490Leu" "10" "CYP2F1*3"
"0000066497" "00006006" "50" "112" "0" "112" "0" "c.112T>C" "r.(?)" "p.Ser38Pro" "2" "CYP2F1*4"
"0000066498" "00006006" "70" "171" "3" "171" "3" "c.171+3G>A" "r.(?)" "p.=" "2i" "CYP2F1*4"
"0000066499" "00006006" "50" "1172" "0" "1172" "0" "c.1172T>C" "r.(?)" "p.Leu391Pro" "9" "CYP2F1*5A"
"0000066500" "00006006" "50" "1172" "0" "1172" "0" "c.1172T>C" "r.(?)" "p.Leu391Pro" "9" "CYP2F1*5B"
"0000066501" "00006006" "30" "823" "-41" "823" "-39" "c.823-41_823-39delinsTCA" "r.(?)" "p.=" "6i" "CYP2F1*5B"
"0000066502" "00006006" "50" "293" "0" "293" "0" "c.293G>C" "r.(?)" "p.Arg98Pro" "3" "CYP2F1*6"
"0000066507" "00006006" "50" "0" "0" "0" "0" "c.=" "r.(?)" "p.(=)" "1_10" "CYP2F1*1"
"0000066508" "00006006" "50" "-356" "0" "-356" "0" "c.-356G>A" "r.(?)" "p.(=)" "_1" "CYP2F1*2A"
"0000066509" "00006006" "50" "1158" "0" "1158" "0" "c.1158C>T" "r.(?)" "p.(Thr386=)" "9" "CYP2F1*2B"
"0000066510" "00006006" "50" "96" "0" "96" "0" "c.96G>A" "r.(?)" "p.(=)" "2" "CYP2F1*3"
"0000066511" "00006006" "50" "171" "3" "171" "3" "c.171+3G>A" "r.(?)" "p.(=)" "2i" "CYP2F1*4"
"0000066512" "00006006" "50" "1172" "0" "1172" "0" "c.1172T>C" "r.(?)" "p.(Leu391Pro)" "9" "CYP2F1*5A"
"0000066513" "00006006" "50" "823" "-41" "823" "-39" "c.823-41_823-39delinsTCA" "r.(?)" "p.(=)" "6i" "CYP2F1*5B"
"0000066514" "00006006" "50" "293" "0" "293" "0" "c.293G>C" "r.(?)" "p.(Arg98Pro)" "3" "CYP2F1*6"
"0000066515" "00006006" "50" "-348" "0" "-348" "0" "c.-348delC" "r.(?)" "p.(=)" "_1" "CYP2F1*2A"
"0000066516" "00006006" "50" "-12" "22" "-12" "22" "c.-12+22G>A" "r.(?)" "p.(=)" "1i" "CYP2F1*2A"
"0000066517" "00006006" "50" "15" "0" "15" "0" "c.15dup" "r.(?)" "p.(Thr6Hisfs*22)" "2" "CYP2F1*2A"
"0000066518" "00006006" "50" "96" "0" "96" "0" "c.96G>A" "r.(?)" "p.(Pro32=)" "2" "CYP2F1*2A"
"0000066519" "00006006" "50" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.(Asp218Asn)" "6" "CYP2F1*2A"
"0000066520" "00006006" "50" "798" "0" "798" "0" "c.798G>C" "r.(?)" "p.(Gln266His)" "6" "CYP2F1*2A"
"0000066521" "00006006" "50" "823" "-50" "823" "-50" "c.823-50T>G" "r.(?)" "p.(=)" "6i" "CYP2F1*2A"
"0000066522" "00006006" "50" "1170" "0" "1170" "0" "c.1170C>A" "r.(?)" "p.(Thr390=)" "9" "CYP2F1*2A"
"0000066523" "00006006" "50" "-356" "0" "-356" "0" "c.-356G>A" "r.(?)" "p.(=)" "_1" "CYP2F1*2B"
"0000066524" "00006006" "50" "-348" "0" "-348" "0" "c.-348delC" "r.(?)" "p.(=)" "_1" "CYP2F1*2B"
"0000066525" "00006006" "50" "-12" "22" "-12" "22" "c.-12+22G>A" "r.(?)" "p.(=)" "1i" "CYP2F1*2B"
"0000066526" "00006006" "50" "15" "0" "15" "0" "c.15dup" "r.(?)" "p.(Thr6Hisfs*22)" "2" "CYP2F1*2B"
"0000066527" "00006006" "50" "96" "0" "96" "0" "c.96G>A" "r.(?)" "p.(Pro32=)" "2" "CYP2F1*2B"
"0000066528" "00006006" "50" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.(Asp218Asn)" "6" "CYP2F1*2B"
"0000066529" "00006006" "50" "798" "0" "798" "0" "c.798G>C" "r.(?)" "p.(Gln266His)" "6" "CYP2F1*2B"
"0000066530" "00006006" "50" "823" "-50" "823" "-50" "c.823-50T>G" "r.(?)" "p.(=)" "6i" "CYP2F1*2B"
"0000066531" "00006006" "50" "1170" "0" "1170" "0" "c.1170C>A" "r.(?)" "p.(Thr390=)" "9" "CYP2F1*2B"
"0000066532" "00006006" "50" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.(Asp218Asn)" "6" "CYP2F1*3"
"0000066533" "00006006" "50" "798" "0" "798" "0" "c.798G>C" "r.(?)" "p.(Gln266His)" "6" "CYP2F1*3"
"0000066534" "00006006" "50" "1170" "0" "1170" "0" "c.1170C>A" "r.(?)" "p.(=)" "9" "CYP2F1*3"
"0000066535" "00006006" "50" "-658" "0" "-658" "0" "c.-658A>G" "r.(?)" "p.(=)" "_1" "CYP2F1*3"
"0000066536" "00006006" "50" "-559" "0" "-559" "0" "c.-559C>T" "r.(?)" "p.(=)" "_1" "CYP2F1*3"
"0000066537" "00006006" "50" "-12" "13" "-12" "13" "c.-12+13G>A" "r.(?)" "p.(=)" "1i" "CYP2F1*3"
"0000066538" "00006006" "50" "645" "25" "645" "25" "c.645+25G>A" "r.(?)" "p.(=)" "5i" "CYP2F1*3"
"0000066539" "00006006" "50" "645" "27" "645" "27" "c.645+27A>G" "r.(?)" "p.(=)" "5i" "CYP2F1*3"
"0000066540" "00006006" "50" "645" "30" "645" "30" "c.645+30G>C" "r.(?)" "p.(=)" "5i" "CYP2F1*3"
"0000066541" "00006006" "50" "1469" "0" "1469" "0" "c.1469C>T" "r.(?)" "p.(Pro490Leu)" "10" "CYP2F1*3"
"0000066542" "00006006" "50" "96" "0" "96" "0" "c.96G>A" "r.(?)" "p.(=)" "2" "CYP2F1*4"
"0000066543" "00006006" "50" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.(Asp218Asn)" "6" "CYP2F1*4"
"0000066544" "00006006" "50" "823" "-50" "823" "-50" "c.823-50T>G" "r.(?)" "p.(=)" "6i" "CYP2F1*4"
"0000066545" "00006006" "50" "112" "0" "112" "0" "c.112T>C" "r.(?)" "p.(Ser38Pro)" "2" "CYP2F1*4"
"0000066546" "00006006" "50" "1172" "0" "1172" "0" "c.1172T>C" "r.(?)" "p.(Leu391Pro)" "9" "CYP2F1*5B"
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 80
"{{screeningid}}" "{{variantid}}"
"0000038783" "0000066463"
"0000038784" "0000066464"
"0000038784" "0000066466"
"0000038784" "0000066468"
"0000038784" "0000066470"
"0000038784" "0000066472"
"0000038784" "0000066476"
"0000038784" "0000066480"
"0000038784" "0000066483"
"0000038784" "0000066486"
"0000038785" "0000066465"
"0000038785" "0000066467"
"0000038785" "0000066469"
"0000038785" "0000066471"
"0000038785" "0000066473"
"0000038785" "0000066477"
"0000038785" "0000066481"
"0000038785" "0000066484"
"0000038785" "0000066487"
"0000038785" "0000066489"
"0000038786" "0000066474"
"0000038786" "0000066478"
"0000038786" "0000066482"
"0000038786" "0000066488"
"0000038786" "0000066490"
"0000038786" "0000066491"
"0000038786" "0000066492"
"0000038786" "0000066493"
"0000038786" "0000066494"
"0000038786" "0000066495"
"0000038786" "0000066496"
"0000038787" "0000066475"
"0000038787" "0000066479"
"0000038787" "0000066485"
"0000038787" "0000066497"
"0000038787" "0000066498"
"0000038788" "0000066499"
"0000038789" "0000066500"
"0000038789" "0000066501"
"0000038790" "0000066502"
"0000038791" "0000066507"
"0000038792" "0000066508"
"0000038792" "0000066515"
"0000038792" "0000066516"
"0000038792" "0000066517"
"0000038792" "0000066518"
"0000038792" "0000066519"
"0000038792" "0000066520"
"0000038792" "0000066521"
"0000038792" "0000066522"
"0000038793" "0000066509"
"0000038793" "0000066523"
"0000038793" "0000066524"
"0000038793" "0000066525"
"0000038793" "0000066526"
"0000038793" "0000066527"
"0000038793" "0000066528"
"0000038793" "0000066529"
"0000038793" "0000066530"
"0000038793" "0000066531"
"0000038794" "0000066510"
"0000038794" "0000066532"
"0000038794" "0000066533"
"0000038794" "0000066534"
"0000038794" "0000066535"
"0000038794" "0000066536"
"0000038794" "0000066537"
"0000038794" "0000066538"
"0000038794" "0000066539"
"0000038794" "0000066540"
"0000038794" "0000066541"
"0000038795" "0000066511"
"0000038795" "0000066542"
"0000038795" "0000066543"
"0000038795" "0000066544"
"0000038795" "0000066545"
"0000038796" "0000066512"
"0000038797" "0000066513"
"0000038797" "0000066546"
"0000038798" "0000066514"