### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HFE) # 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}}" "HFE" "hemochromatosis" "6" "p21.3" "unknown" "NG_008720.2" "UD_132084478328" "" "http://www.LOVD.nl/HFE" "" "1" "4886" "3077" "613609" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/HFE_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2016-11-24 09:10:16" "00000" "2025-08-18 12:06:04" ## 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}}" "00009296" "HFE" "transcript variant 1" "001" "NM_000410.3" "" "NP_000401.1" "" "" "" "-160" "2062" "1047" "26087509" "26095469" "" "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" "00204" "AD" "Alzheimer disease (AD)" "AD" "104300" "" "" "" "00006" "2013-09-24 20:52:38" "00006" "2021-12-10 21:51:32" "00411" "HFE1" "hemochromatosis, type 1 (HFE-1)" "AR" "235200" "" "" "" "00006" "2014-06-15 21:19:45" "00006" "2021-12-10 21:51:32" "00415" "PCT" "porphyria cutanea tarda (PCT)" "AD;AR" "176100" "" "" "" "00006" "2014-06-15 21:27:40" "00006" "2021-12-10 21:51:32" "00416" "VP" "porphyria, variagated (VP)" "AD" "176200" "" "" "" "00006" "2014-06-15 21:29:01" "00006" "2021-12-10 21:51:32" "00534" "HFE3" "hemochromatosis, type 3 (HFE-3)" "AR" "604250" "" "" "" "00006" "2014-09-22 23:15:19" "00006" "2021-12-10 21:51:32" "03168" "MVCD7" "microvascular complications of diabetes, type 7 (MVCD-7)" "" "612635" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03576" "TFQTL2" "transferrin serum level, quantitative trait locus 2 (TFQTL-2)" "" "614193" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" "05278" "HFE" "hemochromatosis (HFE)" "" "" "" "" "" "00006" "2017-06-09 17:44:31" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{geneid}}" "{{diseaseid}}" "HFE" "00204" "HFE" "00411" "HFE" "00415" "HFE" "00416" "HFE" "03168" "HFE" "03576" ## Individuals ## Do not remove or alter this header ## ## Count = 44 "{{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}}" "00019844" "" "" "" "1" "" "00776" "{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}" "" "F" "" "Spain" "" "0" "" "" "" "22890139-Fam1" "00019851" "" "" "" "1" "" "00776" "{PMID:Del-Castillo-Rueda 2011:21770687}" "" "M" "" "Portugal" "" "0" "" "" "" "21770687-Pat" "00024118" "" "" "" "1" "" "00557" "{PMID:Lee and Barton 2006:16424658}" "" "M" "-" "United Kingdom (Great Britain)" "" "0" "" "34 units of 500ml at weekly phlebotomy (reported as 6.8g Fe removed)" "White of Scottish descent" "" "00024942" "" "" "" "1" "" "01154" "{PMID:Island 2009:19286879}" "" "M" "" "France" "" "0" "" "" "" "" "00024943" "" "" "" "1" "" "01154" "{PMID:Matthes 2004:15198949}" "" "M" "" "Portugal" "" "0" "" "" "" "" "00024946" "" "" "" "3" "" "00557" "{PMID:Biasiotto 2004:15528154}" "found in 3 individuals (incl. father/son)" "" "" "" "" "0" "" "" "" "" "00024948" "" "" "" "1" "" "01154" "{PMID:Merryweather-Clarke 2003:12915468}" "digenic inheritance; 2-generation family, patient and unaffected carrier mother" "M" "" "" "" "0" "" "" "" "" "00024949" "" "" "" "1" "" "01154" "{PMID:Merryweather-Clarke 2003:12915468}" "unaffected carrier mother HFE p.(H63D)" "M" "" "" "" "0" "" "" "" "" "00024951" "" "" "" "1" "" "01154" "{PMID:Jacolot 2004:14670915}" "" "" "" "" "" "0" "" "" "" "" "00024953" "" "" "" "1" "" "01154" "{PMID:Merryweather-Clarke 2003:12915468}" "2-generation family, heterozygous carrier father HFE:C282Y heterozygote, sister HFE:C282Y homozygote" "" "" "" "" "0" "" "" "" "" "00024959" "" "" "" "3" "" "00006" "{PMID:Camaschella 2000:10802645}, {DOI:Camaschella 2000:10.1038/75534}, {PMID:Roetto 2001:11313241}" "2-generation family, 3 affecteds (2F), unaffected heterozygous carrier parents; PatII3 homozygous for HFE:H63D" "M" "?" "Italy" "" "0" "" "" "Italina, Sicily" "" "00024962" "" "" "" "1" "" "00557" "{PMID:Hofmann 2002:12150153}" "2-generation family, mother HFE:C282Y homozygous sibs with discordant phenotype" "F" "?" "United States" "" "0" "" "" "" "" "00024963" "" "" "" "1" "" "00557" "{PMID:Hofmann 2002:12150153}" "2-generation family, Sib1 HFE:C282Y homozygous sibs with discordant phenotype" "M" "?" "United States" "" "0" "" "" "" "" "00024964" "" "" "" "1" "" "00557" "{PMID:Hofmann 2002:12150153}" "2-generation family, Sib2 HFE:C282Y homozygous sibs with discordant phenotype" "M" "?" "United States" "" "0" "" "" "" "" "00024965" "" "" "" "2" "" "00557" "{PMID:Hofmann 2002:12150153}" "2-generation family, Sib3+4 HFE:C282Y homozygous sibs with discordant phenotype" "" "?" "United States" "" "0" "" "" "" "" "00024967" "" "" "" "3" "" "01157" "{PMID:Mattman 2002:12130528}, {DOI:Mattman 2002:10.1182/blood-2002-01-0133}" "4-generation family, 3 affecteds (2F, M), index has 2 affected sisters (1HFE:H63D heterozygote)" "" "yes" "Portugal" "" "0" "" "" "Portuguese" "" "00024968" "" "" "" "89" "" "00006" "{PMID:Mattman 2002:12130528}" "89 iron overload patients, non-HFE:C282Y" "" "?" "Canada" "" "0" "" "" "" "" "00024980" "" "" "" "3" "" "00006" "{PMID:Pietrangelo 2005:15685557}" "4-generation family, 3 affecteds (F, 2M); 1 M no HFE vars" "-" "yes" "Italy" "" "0" "" "" "" "" "00024982" "" "" "" "1" "" "00006" "{PMID:Biasiotto 2003:14633868}" "" "" "?" "Italy" "" "0" "" "" "" "" "00024983" "" "" "" "1" "" "00006" "{PMID:Biasiotto 2003:14633868}" "" "" "?" "Italy" "" "0" "" "" "" "" "00024987" "" "" "" "8" "" "00006" "{PMID:Biasiotto 2003:14633868}" "family, 8 affecteds" "" "?" "Italy" "" "0" "" "" "" "" "00024988" "" "" "" "1" "" "00006" "{PMID:Biasiotto 2003:14633868}" "" "" "?" "Italy" "" "0" "" "" "" "" "00088175" "" "" "" "1" "" "00002" "" "" "" "" "" "" "0" "" "" "" "" "00104898" "" "" "" "5" "" "00006" "{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}" "2-generation family, affected father and son" "M" "no" "Spain" "" "0" "" "" "" "22890139-Fam2Pat1" "00104899" "" "" "00104898" "1" "" "00006" "{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}" "father of Pat1" "M" "" "Spain" "" "0" "" "" "" "22890139-Fam2Pat1f" "00104900" "" "" "00104898" "1" "" "00006" "{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}" "mother of Pat1" "F" "" "Spain" "" "0" "" "" "" "22890139-Fam2Pat1m" "00104901" "" "" "00104898" "1" "" "00006" "{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}" "sister of Pat1" "F" "" "Spain" "" "0" "" "" "" "22890139-Fam2Pat1s2" "00104904" "" "" "" "1" "" "00006" "{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}" "" "M" "" "Spain" "" "0" "" "" "" "22890139-Fam4Pat1" "00104905" "" "" "" "1" "" "00006" "{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}" "" "M" "" "Spain" "" "0" "" "" "" "22890139-Fam5Pat1" "00104906" "" "" "" "4" "" "00006" "{PMID:Zamani 2012:23018356}" "" "" "" "Iran" "" "0" "" "" "" "23018356-Pat" "00104908" "" "" "" "1" "" "00006" "{PMID:Piperno 2004:15020277}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Italy" "" "0" "" "" "Sicily" "15020277-Fam1" "00104909" "" "" "" "1" "" "00006" "{PMID:Piperno 2004:15020277}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Italy" "" "0" "" "" "Sicily" "15020277-Fam2" "00104930" "" "" "" "1" "" "00006" "{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}" "" "F" "yes" "France" "" "0" "" "" "" "23600741-Pat1" "00104931" "" "" "" "1" "" "00006" "{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}" "" "M" "" "France" "" "0" "" "" "" "23600741-Pat2" "00104936" "" "" "" "1" "" "00006" "{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}" "" "F" "" "France" "" "0" "" "" "" "23600741-Pat7" "00207901" "" "" "" "1" "" "03121" "{PMID:Vadgama 2019:30886340}, {DOI:Vadgama 2019:10.1038/s41431-019-0376-7}" "242: proband diagnosed with ALS\r\n243: unaffected MZ twin" "M" "" "" "" "0" "" "" "" "242" "00271352" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00294043" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294044" "" "" "" "60" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294045" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305073" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308709" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00308710" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00320310" "" "" "" "1" "" "00006" "{PMID:Isbister 2020:32931854}" "" "" "" "Australia" "" "0" "" "" "" "WV1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 44 "{{individualid}}" "{{diseaseid}}" "00019844" "05278" "00019851" "00411" "00024118" "00534" "00024942" "00411" "00024943" "00411" "00024946" "00198" "00024948" "00411" "00024949" "00411" "00024951" "00411" "00024953" "00411" "00024959" "00534" "00024962" "00198" "00024963" "00411" "00024964" "00411" "00024965" "00198" "00024967" "00411" "00024968" "00411" "00024980" "00411" "00024982" "00411" "00024983" "00411" "00024987" "00411" "00024988" "00411" "00088175" "00411" "00104898" "05278" "00104899" "05278" "00104900" "00000" "00104901" "00000" "00104904" "05278" "00104905" "05278" "00104906" "05278" "00104908" "05278" "00104909" "05278" "00104930" "05278" "00104931" "05278" "00104936" "05278" "00207901" "04255" "00271352" "00198" "00294043" "00198" "00294044" "00198" "00294045" "00198" "00305073" "00198" "00308709" "00000" "00308710" "00000" "00320310" "04172" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00204, 00411, 00415, 00416, 00534, 03168, 03576, 04172, 04255, 05278 ## Count = 34 "{{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}}" "0000017589" "00411" "00019851" "00776" "Complex" "29y" "Iron overload due to genetics and environmental factors (alcoholic habits)" "" "" "" "" "" "" "" "" "" "" "" "0000020220" "00534" "00024118" "00557" "Unknown" "48y" "hemochromatosis, severe iron overload; see paper" "" "" "" "" "" "" "" "" "" "" "" "0000021062" "00411" "00024942" "01154" "Unknown" "37y" "elevated hepatic iron (0012465) HII 12.2 umol Fe/g dry weight/year; venesection 85g Fe" "" "" "" "" "" "" "" "" "" "" "" "0000021063" "00411" "00024943" "01154" "Unknown" "29y" "hemochromatosis, juvenile; insulin-dependent diabetes mellitus; heart failure; hypogonadotropic hypogonadism; skin hyperpigmentation; elevated hepatic iron (0012465) venesection 12g Fe over 11months" "" "" "" "" "" "" "" "" "" "" "" "0000021066" "00198" "00024946" "00557" "Unknown" "" "see paper; variable" "" "" "" "" "" "" "" "" "" "" "" "0000021068" "00411" "00024948" "01154" "Complex" "" "hemochromatosis, juvenile; 27y-congestive heart failure, hypogodanotropic hypogonadism, diabetes mellitus, fatigue and skin pigmentation, liver biopsy showed fibrosis; elevated hepatic iron (0012465) hepatic iron index 17.8 umol Fe/g dry wt/y, venesection removed 27g Fe over 4y" "" "" "" "" "" "" "" "" "" "" "" "0000021069" "00411" "00024949" "01154" "Complex" "86y" "hemochromatosis, juvenile; elevated hepatic iron (0012465) normal serum iron biochemistry." "" "" "" "" "" "" "" "" "" "" "" "0000021071" "00411" "00024951" "01154" "Unknown" "" "elevated hepatic iron (0012465) venesection 14.6g Fe" "" "" "" "" "" "" "" "" "" "" "" "0000021073" "00411" "00024953" "01154" "Unknown" "" "hemochromatosis; elevated hepatic iron (0012465) venesection 6g Fe" "" "" "" "" "" "" "" "" "" "" "" "0000021079" "00534" "00024959" "00006" "Familial, autosomal recessive" "" "see paper; increased transferrin saturation and serum ferritin and most had disease-related clinical complications; affected siblings had skin pigmentation and abnormal liver function tests; PatII3 had liver cirrhosis, diabetes and arthritis" "" "" "" "" "" "" "" "" "" "" "" "0000021082" "00198" "00024962" "00557" "Familial" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000021083" "00411" "00024963" "00557" "Familial" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000021084" "00411" "00024964" "00557" "Familial" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000021085" "00198" "00024965" "00557" "Familial" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000021087" "00411" "00024967" "01157" "Familial, autosomal recessive" "29y" "hemochromatosis, juvenile; fatigue, hypogonadotropic hypogonadism, hyperpigmentation, mild elevation liver transaminases, idiopathic thrombocytopenic purpura, mild normocytic anemia and lymphopenia; elevated hepatic iron (0012465) phlebotomy >12g Fe over 4y" "" "" "" "" "" "" "" "" "" "" "" "0000021088" "00411" "00024968" "00006" "-" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000021100" "00411" "00024980" "00006" "Isolated (sporadic)" "" "see paper, variable; severe endocrinopathy and cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000021102" "00411" "00024982" "00006" "Unknown" "" "altered iron status" "" "" "" "" "" "" "" "" "" "" "" "0000021103" "00411" "00024983" "00006" "Unknown" "" "altered iron status" "" "" "" "" "" "" "" "" "" "" "" "0000021107" "00411" "00024987" "00006" "Familial" "" "altered iron status" "" "" "" "" "" "" "" "" "" "" "" "0000021108" "00411" "00024988" "00006" "Unknown" "" "altered iron status" "" "" "" "" "" "" "" "" "" "" "" "0000067642" "00411" "00088175" "00002" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082793" "05278" "00019844" "00776" "Familial, autosomal recessive" "59y" "" "" "" "" "" "" "" "" "" "" "" "" "0000082794" "05278" "00104898" "00006" "Familial, autosomal recessive" "26y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000082795" "05278" "00104899" "00006" "Familial, autosomal recessive" "69y" "hemochromatosis, treated with phlebotomy" "" "" "" "" "" "" "" "" "" "" "" "0000082797" "05278" "00104904" "00006" "Familial, autosomal recessive" "44y" "classic hemochromatosis; MRI revealed iron overload phenotype, severe\r\nliver iron overload (230 μmol Fe/g); received phlebotomy for 2y (6.07g of Fe removed), no follow-up MR" "" "" "" "" "" "" "" "" "" "" "" "0000082798" "05278" "00104905" "00006" "Familial, autosomal recessive" "59y" "classic hemochromatosis; metabolic syndrome, hyperferritinemia; MRI severe iron overload phenotype, iron liver deposits (160 μmol Fe/g), not in spleen or pancreas; phlebotomy for\r\n2y (2 g of Fe) no follow-up MRI; abdominal ultrasound, revealed steatosis" "" "" "" "" "" "" "" "" "" "" "" "0000082805" "05278" "00104908" "00006" "Familial, autosomal recessive" "03y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000082806" "05278" "00104909" "00006" "Familial, autosomal recessive" "16y" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000082827" "05278" "00104930" "00006" "Familial, autosomal recessive" "10y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000082828" "05278" "00104931" "00006" "Familial, autosomal recessive" "17y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000082833" "05278" "00104936" "00006" "Familial, autosomal recessive" "29y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000207959" "00198" "00271352" "01164" "Unknown" "" "Polyneuropathy (HP:0001271); Myopathy (HP:0003198); EMG: neuropathic changes (HP:0003445); EMG: myopathic abnormalities (HP:0003458)" "" "" "" "" "" "" "" "" "" "" "" "0000242338" "04172" "00320310" "00006" "Unknown" "" "survived sudden cardiac arrest" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 44 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000019834" "00019844" "1" "00776" "00776" "2014-09-05 09:53:32" "" "" "SEQ" "DNA" "Whole blood" "" "0000019842" "00019851" "1" "00776" "00776" "2014-09-05 12:40:34" "" "" "SEQ" "DNA" "Peripheral blood" "" "0000024105" "00024118" "1" "00557" "00557" "2014-10-21 13:07:59" "00006" "2014-10-22 22:43:49" "PCR;SEQ" "DNA" "" "" "0000024945" "00024942" "1" "01154" "01154" "2012-08-13 17:52:38" "00557" "2013-10-31 15:23:31" "SEQ" "DNA" "" "" "0000024946" "00024943" "1" "01154" "01154" "2012-08-13 19:18:05" "00557" "2013-11-25 18:06:31" "SEQ" "DNA" "" "" "0000024949" "00024946" "1" "00006" "00006" "2014-11-26 09:30:35" "" "" "SEQ" "DNA" "" "" "0000024951" "00024948" "1" "01154" "01154" "2012-08-13 21:09:20" "00557" "2013-11-21 21:04:31" "DHPLC;SEQ" "DNA" "" "" "0000024952" "00024949" "1" "01154" "01154" "2012-08-13 21:09:20" "00557" "2013-11-21 21:04:31" "DHPLC;SEQ" "DNA" "" "" "0000024954" "00024951" "1" "01154" "01154" "2012-08-13 21:53:38" "00557" "2013-11-21 20:02:28" "DHPLC;SEQ" "DNA" "" "" "0000024956" "00024953" "1" "01154" "01154" "2012-08-13 22:38:51" "00557" "2013-11-22 12:44:36" "PCRdig;SEQ" "DNA" "" "" "0000024961" "00024959" "1" "00006" "00006" "2014-11-28 21:43:46" "00006" "2014-11-28 22:17:46" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000024964" "00024962" "1" "00557" "00557" "2013-05-13 19:37:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000024965" "00024963" "1" "00557" "00557" "2013-05-13 19:37:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000024966" "00024964" "1" "00557" "00557" "2013-05-13 19:37:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000024967" "00024965" "1" "00557" "00557" "2013-05-13 19:37:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000024969" "00024967" "1" "01157" "00557" "2013-05-29 12:17:29" "" "" "PCR;SEQ" "DNA" "" "" "0000024970" "00024968" "1" "00006" "00006" "2014-11-28 21:43:46" "" "" "PCR;SEQ" "DNA" "" "" "0000024982" "00024980" "1" "00006" "00006" "2014-11-28 21:43:46" "" "" "SEQ" "DNA" "" "" "0000024984" "00024982" "1" "00006" "00006" "2014-11-28 21:43:46" "" "" "DHPLC;SEQ" "DNA" "" "" "0000024985" "00024983" "1" "00006" "00006" "2014-11-28 21:43:46" "" "" "DHPLC;SEQ" "DNA" "" "" "0000024989" "00024987" "1" "00006" "00006" "2014-11-28 21:43:46" "" "" "DHPLC;SEQ" "DNA" "" "" "0000024990" "00024988" "1" "00006" "00006" "2014-11-28 21:43:46" "" "" "DHPLC;SEQ" "DNA" "" "" "0000088319" "00088175" "1" "00002" "00002" "2011-05-09 13:39:23" "" "" "SEQ" "DNA" "" "" "0000105370" "00104898" "1" "00006" "00006" "2017-06-09 17:57:00" "00006" "2017-06-09 19:34:54" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000105371" "00104899" "1" "00006" "00006" "2017-06-09 19:02:45" "" "" "SEQ" "DNA" "" "" "0000105372" "00104900" "1" "00006" "00006" "2017-06-09 19:07:42" "" "" "SEQ" "DNA" "" "" "0000105373" "00104901" "1" "00006" "00006" "2017-06-09 19:10:33" "" "" "SEQ" "DNA" "" "" "0000105376" "00104904" "1" "00006" "00006" "2017-06-09 19:21:44" "" "" "SEQ" "DNA" "" "" "0000105377" "00104905" "1" "00006" "00006" "2017-06-09 19:30:01" "" "" "SEQ" "DNA" "" "" "0000105378" "00104906" "1" "00006" "00006" "2017-06-09 19:47:31" "" "" "SEQ" "DNA" "" "" "0000105380" "00104908" "1" "00006" "00006" "2017-06-09 23:14:36" "" "" "SEQ" "DNA" "" "" "0000105381" "00104909" "1" "00006" "00006" "2017-06-09 23:19:42" "" "" "SEQ" "DNA" "" "" "0000105402" "00104930" "1" "00006" "00006" "2017-06-10 21:54:15" "" "" "SEQ" "DNA" "" "" "0000105403" "00104931" "1" "00006" "00006" "2017-06-10 22:21:35" "" "" "SEQ" "DNA" "" "" "0000105408" "00104936" "1" "00006" "00006" "2017-06-10 22:47:57" "" "" "SEQ" "DNA" "" "" "0000208945" "00207901" "1" "03121" "03121" "2018-12-02 22:56:34" "" "" "SEQ-NG" "DNA" "LCL" "WES" "0000272503" "00271352" "1" "01164" "01164" "2019-12-18 16:25:31" "" "" "SEQ-NG-S" "DNA" "" "" "0000295211" "00294043" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295212" "00294044" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295213" "00294045" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306202" "00305073" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309854" "00308709" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000309855" "00308710" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000321496" "00320310" "1" "00006" "00006" "2020-11-27 09:16:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 73 "{{screeningid}}" "{{geneid}}" "0000019834" "TFR2" "0000019842" "TFR2" "0000024105" "ALAS2" "0000024105" "HAMP" "0000024105" "HFE" "0000024105" "SLC40A1" "0000024105" "TFR2" "0000024945" "HAMP" "0000024945" "HFE" "0000024946" "HAMP" "0000024946" "HFE" "0000024949" "HAMP" "0000024949" "HFE" "0000024951" "HAMP" "0000024951" "HFE" "0000024952" "HAMP" "0000024952" "HFE" "0000024954" "HAMP" "0000024954" "HFE" "0000024956" "HAMP" "0000024956" "HFE" "0000024961" "HFE" "0000024961" "TFR2" "0000024964" "HFE" "0000024964" "TFR2" "0000024965" "HFE" "0000024966" "HFE" "0000024966" "TFR2" "0000024967" "HFE" "0000024967" "TFR2" "0000024969" "HFE" "0000024969" "TFR2" "0000024970" "HFE" "0000024970" "TFR2" "0000024982" "HFE" "0000024982" "TFR2" "0000024984" "HFE" "0000024984" "TFR2" "0000024985" "HFE" "0000024985" "TFR2" "0000024989" "HFE" "0000024989" "TFR2" "0000024990" "HFE" "0000024990" "TFR2" "0000088319" "HFE" "0000105370" "HFE" "0000105370" "TFR2" "0000105371" "HFE" "0000105371" "TFR2" "0000105372" "HFE" "0000105372" "TFR2" "0000105373" "HFE" "0000105376" "HFE" "0000105376" "TFR2" "0000105377" "HFE" "0000105377" "SLC40A1" "0000105377" "TFR2" "0000105378" "HFE" "0000105380" "HFE" "0000105380" "TFR2" "0000105381" "HFE" "0000105381" "TFR2" "0000105402" "HFE" "0000105402" "TFR2" "0000105403" "HFE" "0000105403" "TFR2" "0000105408" "HFE" "0000105408" "TFR2" "0000309854" "HFE" "0000309855" "HFE" "0000321496" "HFE" "0000321496" "JPH2" "0000321496" "SGCD" ## 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 = 87 "{{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}}" "0000046542" "0" "50" "6" "26091179" "26091179" "subst" "0.109539" "00557" "HFE_000001" "g.26091179C>G" "" "{PMID:Lee 2006:16424658}" "" "" "" "Unknown" "?" "" "0" "" "" "g.26090951C>G" "" "VUS" "" "0000047767" "3" "90" "6" "26093141" "26093141" "subst" "0.0331564" "00006" "HFE_000002" "g.26093141G>A" "" "{PMID:Island 2009:19286879}" "" "C282Y" "" "Germline" "" "rs1800562" "0" "" "" "g.26092913G>A" "" "pathogenic" "" "0000047768" "1" "70" "6" "26091179" "26091179" "subst" "0.109539" "00006" "HFE_000001" "g.26091179C>G" "" "{PMID:Matthes 2004:15198949}" "" "H63D" "" "Germline" "" "rs1799945" "0" "" "" "g.26090951C>G" "" "likely pathogenic" "" "0000047769" "3" "90" "6" "26093141" "26093141" "subst" "0.0331564" "00006" "HFE_000002" "g.26093141G>A" "" "{PMID:Merryweather-Clarke 2003:12915468}" "" "C282Y" "" "Germline" "" "rs1800562" "0" "" "" "g.26092913G>A" "" "pathogenic" "" "0000047770" "3" "90" "6" "26093141" "26093141" "subst" "0.0331564" "00006" "HFE_000002" "g.26093141G>A" "" "{PMID:Jacolot 2004:14670915}" "" "C282Y" "" "Germline" "" "rs1800562" "0" "" "" "g.26092913G>A" "" "pathogenic" "" "0000047771" "3" "90" "6" "26093141" "26093141" "subst" "0.0331564" "00006" "HFE_000002" "g.26093141G>A" "" "{PMID:Merryweather-Clarke 2003:12915468}" "" "C282Y" "" "Germline" "" "rs1800562" "0" "" "" "g.26092913G>A" "" "pathogenic" "" "0000047772" "1" "70" "6" "26091179" "26091179" "subst" "0.109539" "00006" "HFE_000001" "g.26091179C>G" "" "{PMID:Merryweather-Clarke 2003:12915468}" "" "H63D" "" "Germline" "" "rs1799945" "0" "" "" "g.26090951C>G" "" "likely pathogenic" "" "0000047773" "1" "90" "6" "26093141" "26093141" "subst" "0.0331564" "00006" "HFE_000002" "g.26093141G>A" "" "{PMID:Biasiotto 2004:15528154}" "" "C282Y" "" "Germline" "" "rs1800562" "0" "" "" "g.26092913G>A" "" "pathogenic" "" "0000047774" "2" "70" "6" "26091179" "26091179" "subst" "0.109539" "00006" "HFE_000001" "g.26091179C>G" "" "{PMID:Biasiotto 2004:15528154}" "" "H63D" "" "Germline" "" "rs1799945" "0" "" "" "g.26090951C>G" "" "likely pathogenic" "" "0000047777" "2" "70" "6" "26091179" "26091179" "subst" "0.109539" "00006" "HFE_000001" "g.26091179C>G" "" "{PMID:Pietrangelo 2005:15685557}" "" "" "" "Germline" "" "rs1799945" "0" "" "" "g.26090951C>G" "" "likely pathogenic" "" "0000047778" "1" "70" "6" "26091179" "26091179" "subst" "0.109539" "00006" "HFE_000001" "g.26091179C>G" "" "{PMID:Biasiotto 2003:14633868}" "" "" "" "Germline" "" "rs1799945" "0" "" "" "g.26090951C>G" "" "likely pathogenic" "" "0000047779" "21" "73" "6" "26093141" "26093141" "subst" "0.0331564" "00557" "HFE_000002" "g.26093141G>A" "" "{PMID:Hofmann 2002:12150153}, {OMIM604720:0004}" "BsgI;AvaII" "" "" "Germline" "" "rs41303501" "0" "" "" "g.26092913G>A" "" "likely pathogenic" "" "0000047780" "1" "90" "6" "26093141" "26093141" "subst" "0.0331564" "00557" "HFE_000002" "g.26093141G>A" "" "{PMID:Hofmann 2002:12150153}" "" "" "" "Germline" "" "rs1800562" "0" "" "" "g.26092913G>A" "" "pathogenic" "" "0000047781" "3" "90" "6" "26093141" "26093141" "subst" "0.0331564" "00557" "HFE_000002" "g.26093141G>A" "" "{PMID:Hofmann 2002:12150153}" "" "" "" "Germline" "" "rs1800562" "0" "" "" "g.26092913G>A" "" "pathogenic" "" "0000047782" "1" "90" "6" "26093141" "26093141" "subst" "0.0331564" "00557" "HFE_000002" "g.26093141G>A" "" "{PMID:Hofmann 2002:12150153}" "" "" "" "Germline" "" "rs1800562" "0" "" "" "g.26092913G>A" "" "pathogenic" "" "0000047783" "1" "95" "6" "26093141" "26093141" "subst" "0.0331564" "01157" "HFE_000002" "g.26093141G>A" "" "{PMID:Mattman 2002:12130528}" "" "" "" "Germline" "" "rs1800562" "0" "" "" "g.26092913G>A" "" "pathogenic" "" "0000047784" "1" "70" "6" "26093141" "26093141" "subst" "0.0331564" "00006" "HFE_000002" "g.26093141G>A" "48/89 cases" "{PMID:Mattman 2002:12130528}" "" "" "" "Germline" "" "rs1800562" "0" "" "" "g.26092913G>A" "" "likely pathogenic" "" "0000047785" "1" "90" "6" "26093141" "26093141" "subst" "0.0331564" "00006" "HFE_000002" "g.26093141G>A" "" "{PMID:Pietrangelo 2005:15685557}" "" "" "" "Germline" "" "rs1800562" "0" "" "" "g.26092913G>A" "" "pathogenic" "" "0000047786" "3" "90" "6" "26093141" "26093141" "subst" "0.0331564" "00006" "HFE_000002" "g.26093141G>A" "" "{PMID:Biasiotto 2003:14633868}" "" "" "" "Germline" "" "rs1800562" "0" "" "" "g.26092913G>A" "" "pathogenic" "" "0000047787" "3" "90" "6" "26093141" "26093141" "subst" "0.0331564" "00006" "HFE_000002" "g.26093141G>A" "5/9 cases" "{PMID:Biasiotto 2003:14633868}" "" "" "" "Germline" "" "rs1800562" "0" "" "" "g.26092913G>A" "" "pathogenic" "" "0000047788" "1" "90" "6" "26093141" "26093141" "subst" "0.0331564" "00006" "HFE_000002" "g.26093141G>A" "3/9 cases" "{PMID:Biasiotto 2003:14633868}" "" "" "" "Germline" "" "rs1800562" "0" "" "" "g.26092913G>A" "" "pathogenic" "" "0000047789" "1" "70" "6" "26091185" "26091185" "subst" "0.0102977" "00006" "HFE_000003" "g.26091185A>T" "" "{PMID:Biasiotto 2003:14633868}" "" "" "" "Germline" "" "rs1800730" "0" "" "" "g.26090957A>T" "" "likely pathogenic" "" "0000047834" "0" "70" "6" "26091179" "26091179" "subst" "0.109539" "00006" "HFE_000001" "g.26091179C>G" "" "{PMID:Camaschella 2000:10802645}" "" "H63D" "" "Germline" "no" "" "0" "" "" "g.26090951C>G" "" "likely pathogenic" "" "0000145983" "1" "55" "6" "26091179" "26091179" "subst" "0.109539" "00002" "HFE_000001" "g.26091179C>G" "" "" "" "0" "" "Germline" "" "" "0" "" "" "g.26090951C>G" "" "VUS" "" "0000170766" "0" "50" "6" "26087261" "26087263" "del" "0" "00006" "HFE_000004" "g.26087261_26087263del" "" "{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}" "" "-408_-406delCAA" "variant in unaffected son and daughter" "Germline" "" "" "0" "" "" "g.26087033_26087035del" "" "VUS" "" "0000170768" "0" "50" "6" "26091179" "26091179" "subst" "0.109539" "00006" "HFE_000001" "g.26091179C>G" "" "{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}" "" "" "" "Germline" "" "" "0" "" "" "g.26090951C>G" "" "VUS" "" "0000170771" "1" "50" "6" "26091179" "26091179" "subst" "0.109539" "00006" "HFE_000001" "g.26091179C>G" "" "{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}" "" "" "" "Germline" "" "" "0" "" "" "g.26090951C>G" "" "VUS" "" "0000170773" "0" "50" "6" "26091179" "26091179" "subst" "0.109539" "00006" "HFE_000001" "g.26091179C>G" "" "{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}" "" "" "" "Germline" "" "" "0" "" "" "g.26090951C>G" "" "VUS" "" "0000170775" "0" "50" "6" "26091179" "26091179" "subst" "0.109539" "00006" "HFE_000001" "g.26091179C>G" "" "{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}" "" "" "" "Germline" "" "" "0" "" "" "g.26090951C>G" "" "VUS" "" "0000170778" "0" "50" "6" "26093141" "26093141" "subst" "0.0331564" "00006" "HFE_000002" "g.26093141G>A" "" "{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}" "" "" "" "Germline" "" "" "0" "" "" "g.26092913G>A" "" "VUS" "" "0000170779" "0" "50" "6" "26087261" "26087263" "del" "0" "00006" "HFE_000004" "g.26087261_26087263del" "" "{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}" "" "-408_-406delCAA" "" "Germline" "" "" "0" "" "" "g.26087033_26087035del" "" "VUS" "" "0000170780" "0" "90" "6" "26091203" "26091203" "subst" "1.62426E-5" "00006" "HFE_000005" "g.26091203C>T" "" "{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}" "" "" "" "Germline" "" "" "0" "" "" "g.26090975C>T" "" "pathogenic" "" "0000170782" "3" "50" "6" "26091179" "26091179" "subst" "0.109539" "00006" "HFE_000001" "g.26091179C>G" "" "{PMID:Del-Castillo-Rueda 2012:22890139}, {DOI:Del-Castillo-Rueda 2012:10.1016/j.gene.2012.07.069}" "" "" "" "Germline" "" "" "0" "" "" "g.26090951C>G" "" "VUS" "" "0000170784" "1" "70" "6" "26091179" "26091179" "subst" "0.109539" "00006" "HFE_000001" "g.26091179C>G" "" "{PMID:Zamani 2012:23018356}" "" "" "" "Germline" "" "" "0" "" "" "g.26090951C>G" "" "likely pathogenic" "" "0000170785" "0" "70" "6" "26091179" "26091179" "subst" "0.109539" "00006" "HFE_000001" "g.26091179C>G" "" "{PMID:Del-Castillo-Rueda 2011:21770687}" "" "" "" "Germline" "" "" "0" "" "" "g.26090951C>G" "" "likely pathogenic" "" "0000170787" "11" "70" "6" "26091179" "26091179" "subst" "0.109539" "00006" "HFE_000001" "g.26091179C>G" "" "{PMID:Piperno 2004:15020277}" "" "H63D" "" "Germline" "" "" "0" "" "" "g.26090951C>G" "" "likely pathogenic" "" "0000170790" "21" "70" "6" "26091179" "26091179" "subst" "0.109539" "00006" "HFE_000001" "g.26091179C>G" "" "{PMID:Piperno 2004:15020277}" "" "H63D" "" "Germline" "" "" "0" "" "" "g.26090951C>G" "" "likely pathogenic" "" "0000170813" "1" "70" "6" "26091179" "26091179" "subst" "0.109539" "00006" "HFE_000001" "g.26091179C>G" "" "{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}" "" "" "" "Germline" "" "" "0" "" "" "g.26090951C>G" "" "likely pathogenic" "" "0000170814" "1" "70" "6" "26091179" "26091179" "subst" "0.109539" "00006" "HFE_000001" "g.26091179C>G" "" "{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}" "" "" "" "Germline" "" "" "0" "" "" "g.26090951C>G" "" "likely pathogenic" "" "0000170825" "1" "70" "6" "26091179" "26091179" "subst" "0.109539" "00006" "HFE_000001" "g.26091179C>G" "" "{PMID:Bardou-Jacquet 2013:23600741}, {DOI:Bardou-Jacquet 2013:10.1111/bjh.12350}" "" "" "" "Germline" "" "" "0" "" "" "g.26090951C>G" "" "likely pathogenic" "" "0000250026" "0" "30" "6" "26091185" "26091185" "subst" "0.0102977" "02329" "HFE_000003" "g.26091185A>T" "" "" "" "HFE(NM_000410.3):c.193A>T (p.S65C), HFE(NM_000410.4):c.193A>T (p.S65C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26090957A>T" "" "likely benign" "" "0000251693" "0" "30" "6" "26091185" "26091185" "subst" "0.0102977" "02326" "HFE_000003" "g.26091185A>T" "" "" "" "HFE(NM_000410.3):c.193A>T (p.S65C), HFE(NM_000410.4):c.193A>T (p.S65C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26090957A>T" "" "likely benign" "" "0000281295" "0" "10" "6" "26091336" "26091336" "subst" "0.374593" "02325" "HFE_000009" "g.26091336T>C" "" "" "" "HFE(NM_000410.3):c.340+4T>C, HFE(NM_000410.4):c.340+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26091108T>C" "" "benign" "" "0000281297" "0" "50" "6" "26091080" "26091080" "subst" "8.12975E-6" "02325" "HFE_000008" "g.26091080C>A" "" "" "" "HFE(NM_000410.4):c.88C>A (p.L30M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26090852C>A" "" "VUS" "" "0000283410" "0" "50" "6" "26087686" "26087686" "subst" "0.000667258" "02329" "HFE_000006" "g.26087686G>C" "" "" "" "HFE(NM_000410.3):c.18G>C (p.R6S), HFE(NM_000410.4):c.18G>C (p.R6S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26087458G>C" "" "VUS" "" "0000283411" "0" "30" "6" "26087718" "26087718" "subst" "0.000439739" "02329" "HFE_000007" "g.26087718C>T" "" "" "" "HFE(NM_000410.3):c.50C>T (p.T17I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26087490C>T" "" "likely benign" "" "0000285103" "0" "10" "6" "26091336" "26091336" "subst" "0.374593" "02326" "HFE_000009" "g.26091336T>C" "" "" "" "HFE(NM_000410.3):c.340+4T>C, HFE(NM_000410.4):c.340+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26091108T>C" "" "benign" "" "0000285104" "0" "30" "6" "26091823" "26091823" "subst" "9.0691E-5" "02326" "HFE_000010" "g.26091823G>A" "" "" "" "HFE(NM_000410.3):c.616+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26091595G>A" "" "likely benign" "" "0000289045" "0" "30" "6" "26087686" "26087686" "subst" "0.000667258" "01943" "HFE_000006" "g.26087686G>C" "" "" "" "HFE(NM_000410.3):c.18G>C (p.R6S), HFE(NM_000410.4):c.18G>C (p.R6S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26087458G>C" "" "likely benign" "" "0000289046" "0" "30" "6" "26087718" "26087718" "subst" "0.000439739" "01943" "HFE_000007" "g.26087718C>T" "" "" "" "HFE(NM_000410.3):c.50C>T (p.T17I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26087490C>T" "" "likely benign" "" "0000438985" "0" "90" "6" "26093125" "26093125" "subst" "0.00368827" "03121" "HFE_000011" "g.26093125G>A" "" "{PMID:Vadgama 2019:30886340}, {DOI:Vadgama 2019:10.1038/s41431-019-0376-7}" "" "" "" "Unknown" "" "" "0" "" "" "g.26092897G>A" "" "pathogenic" "" "0000528128" "0" "50" "6" "26091749" "26091749" "subst" "8.13392E-6" "01943" "HFE_000012" "g.26091749T>C" "" "" "" "HFE(NM_000410.3):c.548T>C (p.L183P, p.(Leu183Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26091521T>C" "" "VUS" "" "0000528129" "0" "50" "6" "26093125" "26093125" "subst" "0.00368827" "02327" "HFE_000011" "g.26093125G>A" "" "" "" "HFE(NM_000410.3):c.829G>A (p.E277K), HFE(NM_000410.4):c.829G>A (p.E277K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26092897G>A" "" "VUS" "" "0000528130" "0" "30" "6" "26093125" "26093125" "subst" "0.00368827" "02325" "HFE_000011" "g.26093125G>A" "" "" "" "HFE(NM_000410.3):c.829G>A (p.E277K), HFE(NM_000410.4):c.829G>A (p.E277K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26092897G>A" "" "likely benign" "" "0000528131" "0" "10" "6" "26093125" "26093125" "subst" "0.00368827" "02329" "HFE_000011" "g.26093125G>A" "" "" "" "HFE(NM_000410.3):c.829G>A (p.E277K), HFE(NM_000410.4):c.829G>A (p.E277K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26092897G>A" "" "benign" "" "0000528135" "0" "30" "6" "26093180" "26093180" "subst" "0.000833971" "01804" "HFE_000013" "g.26093180T>C" "" "" "" "HFE(NM_000410.3):c.884T>C (p.(Val295Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26092952T>C" "" "likely benign" "" "0000610236" "0" "50" "6" "26087686" "26087686" "subst" "0.000667258" "02325" "HFE_000006" "g.26087686G>C" "" "" "" "HFE(NM_000410.3):c.18G>C (p.R6S), HFE(NM_000410.4):c.18G>C (p.R6S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26087458G>C" "" "VUS" "" "0000610237" "0" "30" "6" "26087708" "26087708" "subst" "2.4416E-5" "02327" "HFE_000015" "g.26087708C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26087480C>G" "" "likely benign" "" "0000610238" "0" "50" "6" "26087751" "26087751" "subst" "0" "02327" "HFE_000016" "g.26087751C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26087523C>G" "" "VUS" "" "0000610239" "0" "50" "6" "26091047" "26091047" "subst" "0.000224065" "02327" "HFE_000017" "g.26091047A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26090819A>G" "" "VUS" "" "0000610240" "0" "50" "6" "26091080" "26091080" "subst" "8.12975E-6" "02327" "HFE_000008" "g.26091080C>A" "" "" "" "HFE(NM_000410.4):c.88C>A (p.L30M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26090852C>A" "" "VUS" "" "0000610242" "0" "30" "6" "26091185" "26091185" "subst" "0.0102977" "02327" "HFE_000003" "g.26091185A>T" "" "" "" "HFE(NM_000410.3):c.193A>T (p.S65C), HFE(NM_000410.4):c.193A>T (p.S65C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26090957A>T" "" "likely benign" "" "0000610243" "0" "50" "6" "26091336" "26091336" "subst" "0" "02327" "HFE_000018" "g.26091336T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26091108T>A" "" "VUS" "" "0000610244" "0" "90" "6" "26091699" "26091699" "subst" "2.43784E-5" "02327" "HFE_000019" "g.26091699G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26091471G>C" "" "pathogenic" "" "0000610245" "0" "70" "6" "26091749" "26091749" "subst" "8.13392E-6" "02327" "HFE_000012" "g.26091749T>C" "" "" "" "HFE(NM_000410.3):c.548T>C (p.L183P, p.(Leu183Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26091521T>C" "" "likely pathogenic" "" "0000610247" "0" "50" "6" "26092865" "26092865" "subst" "0.0002693" "02327" "HFE_000021" "g.26092865C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26092637C>T" "" "VUS" "" "0000610248" "0" "50" "6" "26092985" "26092985" "subst" "4.06098E-6" "02327" "HFE_000022" "g.26092985A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26092757A>G" "" "VUS" "" "0000610249" "0" "10" "6" "26093236" "26093236" "subst" "0.132263" "02327" "HFE_000023" "g.26093236G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26093008G>A" "" "benign" "" "0000610251" "0" "30" "6" "26093432" "26093432" "subst" "0" "01943" "HFE_000025" "g.26093432C>T" "" "" "" "HFE(NM_000410.3):c.978C>T (p.F326=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26093204C>T" "" "likely benign" "" "0000626428" "0" "90" "6" "26093141" "26093141" "subst" "0.0331564" "01164" "HFE_000002" "g.26093141G>A" "" "" "" "" "ACMG: PS3,PS4,PM3,PP3,PP4" "Germline" "" "rs1800562" "0" "" "" "g.26092913G>A" "" "pathogenic" "ACMG" "0000651900" "1" "50" "6" "26091703" "26091703" "subst" "0.000446936" "03575" "HFE_000026" "g.26091703G>C" "1/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs146519482}" "Germline" "" "rs146519482" "0" "" "" "g.26091475G>C" "" "VUS" "" "0000651901" "1" "50" "6" "26093125" "26093125" "subst" "0.00368827" "03575" "HFE_000011" "g.26093125G>A" "60/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 60 heterozygous; {DB:CLININrs140080192}" "Germline" "" "rs140080192" "0" "" "" "g.26092897G>A" "" "VUS" "" "0000651902" "1" "50" "6" "26093141" "26093141" "subst" "0.0331564" "03575" "HFE_000002" "g.26093141G>A" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 10 heterozygous, no homozygous; {DB:CLININrs1800562}" "Germline" "" "rs1800562" "0" "" "" "g.26092913G>A" "" "VUS" "" "0000655545" "0" "30" "6" "26092992" "26092992" "subst" "4.06065E-5" "01943" "HFE_000027" "g.26092992C>T" "" "" "" "HFE(NM_000410.3):c.696C>T (p.P232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26092764C>T" "" "likely benign" "" "0000669890" "3" "50" "6" "26093125" "26093125" "subst" "0.00368827" "03575" "HFE_000011" "g.26093125G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs140080192}" "Germline" "" "rs140080192" "0" "" "" "g.26092897G>A" "" "VUS" "" "0000677707" "0" "30" "6" "26093356" "26093356" "subst" "0" "01943" "HFE_000028" "g.26093356C>T" "" "" "" "HFE(NM_000410.3):c.902C>T (p.P301L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677708" "0" "50" "6" "26094423" "26094423" "subst" "0" "02327" "HFE_000029" "g.26094423T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000684756" "0" "30" "6" "26091179" "26091179" "subst" "0.109539" "00004" "HFE_000001" "g.26091179C>G" "frequency 0.038" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.26090951C>G" "" "likely benign" "" "0000684757" "0" "30" "6" "26093461" "26093461" "subst" "5.68856E-5" "00004" "HFE_000030" "g.26093461G>A" "frequency 0.014" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.26093233G>A" "" "likely benign" "" "0000704354" "0" "50" "6" "26093397" "26093397" "subst" "0" "00006" "HFE_000031" "g.26093397G>A" "" "{PMID:Isbister 2020:32931854}" "" "" "" "Germline" "" "" "0" "" "" "g.26093169G>A" "" "VUS" "ACMG" "0000802458" "0" "30" "6" "26087755" "26087755" "subst" "2.47038E-5" "02327" "HFE_000032" "g.26087755G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851150" "0" "30" "6" "26091185" "26091185" "subst" "0.0102977" "02325" "HFE_000003" "g.26091185A>T" "" "" "" "HFE(NM_000410.3):c.193A>T (p.S65C), HFE(NM_000410.4):c.193A>T (p.S65C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887133" "0" "70" "6" "26093461" "26093461" "subst" "5.68856E-5" "02327" "HFE_000030" "g.26093461G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000924459" "0" "30" "6" "26087689" "26087689" "subst" "0.00076498" "02327" "HFE_000033" "g.26087689G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995602" "0" "90" "6" "26091749" "26091749" "subst" "8.13392E-6" "01804" "HFE_000012" "g.26091749T>C" "" "" "" "HFE(NM_000410.3):c.548T>C (p.L183P, p.(Leu183Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014197" "0" "50" "6" "26092972" "26092972" "subst" "3.65464E-5" "02327" "HFE_000034" "g.26092972C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047438" "0" "90" "6" "26091703" "26091703" "subst" "0" "03779" "HFE_000035" "g.26091703G>T" "" "" "" "" "" "Unknown" "" "rs146519482" "0" "" "" "" "" "pathogenic" "" ## 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 HFE ## Count = 87 "{{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}}" "0000046542" "00009296" "50" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(His63Asp)" "2" "0000047767" "00009296" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Cys282Tyr)" "4" "0000047768" "00009296" "70" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(His63Asp)" "2" "0000047769" "00009296" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Cys282Tyr)" "4" "0000047770" "00009296" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Cys282Tyr)" "4" "0000047771" "00009296" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Cys282Tyr)" "4" "0000047772" "00009296" "70" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(His63Asp)" "2" "0000047773" "00009296" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Cys282Tyr)" "4" "0000047774" "00009296" "70" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(His63Asp)" "2" "0000047777" "00009296" "70" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(His63Asp)" "2" "0000047778" "00009296" "70" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(His63Asp)" "2" "0000047779" "00009296" "73" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Cys282Tyr)" "4" "0000047780" "00009296" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Cys282Tyr)" "4" "0000047781" "00009296" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Cys282Tyr)" "4" "0000047782" "00009296" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Cys282Tyr)" "4" "0000047783" "00009296" "95" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Cys282Tyr)" "4" "0000047784" "00009296" "70" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Cys282Tyr)" "4" "0000047785" "00009296" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Cys282Tyr)" "4" "0000047786" "00009296" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Cys282Tyr)" "4" "0000047787" "00009296" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Cys282Tyr)" "4" "0000047788" "00009296" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Cys282Tyr)" "4" "0000047789" "00009296" "70" "193" "0" "193" "0" "c.193A>T" "r.(?)" "p.(Ser65Cys)" "2" "0000047834" "00009296" "70" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(His63Asp)" "2" "0000145983" "00009296" "55" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(His63Asp)" "2" "0000170766" "00009296" "50" "-408" "0" "-406" "0" "c.-408_-406del" "r.(=)" "p.(=)" "_1" "0000170768" "00009296" "50" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(His63Asp)" "2" "0000170771" "00009296" "50" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(His63Asp)" "2" "0000170773" "00009296" "50" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(His63Asp)" "2" "0000170775" "00009296" "50" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(His63Asp)" "2" "0000170778" "00009296" "50" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Cys282Tyr)" "4" "0000170779" "00009296" "50" "-408" "0" "-406" "0" "c.-408_-406del" "r.(=)" "p.(=)" "_1" "0000170780" "00009296" "90" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Arg71*)" "2" "0000170782" "00009296" "50" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(His63Asp)" "2" "0000170784" "00009296" "70" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(His63Asp)" "2" "0000170785" "00009296" "70" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(His63Asp)" "2" "0000170787" "00009296" "70" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(His63Asp)" "2" "0000170790" "00009296" "70" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(His63Asp)" "2" "0000170813" "00009296" "70" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(His63Asp)" "2" "0000170814" "00009296" "70" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(His63Asp)" "2" "0000170825" "00009296" "70" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(His63Asp)" "2" "0000250026" "00009296" "30" "193" "0" "193" "0" "c.193A>T" "r.(?)" "p.(Ser65Cys)" "" "0000251693" "00009296" "30" "193" "0" "193" "0" "c.193A>T" "r.(?)" "p.(Ser65Cys)" "" "0000281295" "00009296" "10" "340" "4" "340" "4" "c.340+4T>C" "r.spl?" "p.?" "" "0000281297" "00009296" "50" "88" "0" "88" "0" "c.88C>A" "r.(?)" "p.(Leu30Met)" "" "0000283410" "00009296" "50" "18" "0" "18" "0" "c.18G>C" "r.(?)" "p.(Arg6Ser)" "" "0000283411" "00009296" "30" "50" "0" "50" "0" "c.50C>T" "r.(?)" "p.(Thr17Ile)" "" "0000285103" "00009296" "10" "340" "4" "340" "4" "c.340+4T>C" "r.spl?" "p.?" "" "0000285104" "00009296" "30" "616" "6" "616" "6" "c.616+6G>A" "r.(=)" "p.(=)" "" "0000289045" "00009296" "30" "18" "0" "18" "0" "c.18G>C" "r.(?)" "p.(Arg6Ser)" "" "0000289046" "00009296" "30" "50" "0" "50" "0" "c.50C>T" "r.(?)" "p.(Thr17Ile)" "" "0000438985" "00009296" "90" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Glu277Lys)" "2" "0000528128" "00009296" "50" "548" "0" "548" "0" "c.548T>C" "r.(?)" "p.(Leu183Pro)" "" "0000528129" "00009296" "50" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Glu277Lys)" "" "0000528130" "00009296" "30" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Glu277Lys)" "" "0000528131" "00009296" "10" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Glu277Lys)" "" "0000528135" "00009296" "30" "884" "0" "884" "0" "c.884T>C" "r.(?)" "p.(Val295Ala)" "" "0000610236" "00009296" "50" "18" "0" "18" "0" "c.18G>C" "r.(?)" "p.(Arg6Ser)" "" "0000610237" "00009296" "30" "40" "0" "40" "0" "c.40C>G" "r.(?)" "p.(Leu14Val)" "" "0000610238" "00009296" "50" "76" "7" "76" "7" "c.76+7C>G" "r.(=)" "p.(=)" "" "0000610239" "00009296" "50" "77" "-22" "77" "-22" "c.77-22A>G" "r.(=)" "p.(=)" "" "0000610240" "00009296" "50" "88" "0" "88" "0" "c.88C>A" "r.(?)" "p.(Leu30Met)" "" "0000610242" "00009296" "30" "193" "0" "193" "0" "c.193A>T" "r.(?)" "p.(Ser65Cys)" "" "0000610243" "00009296" "50" "340" "4" "340" "4" "c.340+4T>A" "r.spl?" "p.?" "" "0000610244" "00009296" "90" "498" "0" "498" "0" "c.498G>C" "r.(?)" "p.(Lys166Asn)" "" "0000610245" "00009296" "70" "548" "0" "548" "0" "c.548T>C" "r.(?)" "p.(Leu183Pro)" "" "0000610247" "00009296" "50" "617" "-48" "617" "-48" "c.617-48C>T" "r.(=)" "p.(=)" "" "0000610248" "00009296" "50" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Tyr230Cys)" "" "0000610249" "00009296" "10" "892" "48" "892" "48" "c.892+48G>A" "r.(=)" "p.(=)" "" "0000610251" "00009296" "30" "978" "0" "978" "0" "c.978C>T" "r.(?)" "p.(Phe326=)" "" "0000626428" "00009296" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Cys282Tyr)" "" "0000651900" "00009296" "50" "502" "0" "502" "0" "c.502G>C" "r.(?)" "p.(Glu168Gln)" "" "0000651901" "00009296" "50" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Glu277Lys)" "" "0000651902" "00009296" "50" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Cys282Tyr)" "" "0000655545" "00009296" "30" "696" "0" "696" "0" "c.696C>T" "r.(?)" "p.(Pro232=)" "" "0000669890" "00009296" "50" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Glu277Lys)" "" "0000677707" "00009296" "30" "902" "0" "902" "0" "c.902C>T" "r.(?)" "p.(Pro301Leu)" "" "0000677708" "00009296" "50" "1016" "0" "1016" "0" "c.1016T>A" "r.(?)" "p.(Met339Lys)" "" "0000684756" "00009296" "30" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(His63Asp)" "" "0000684757" "00009296" "30" "1006" "1" "1006" "1" "c.1006+1G>A" "r.spl?" "p.?" "" "0000704354" "00009296" "50" "943" "0" "943" "0" "c.943G>A" "r.(?)" "p.(Val315Ile)" "" "0000802458" "00009296" "30" "76" "11" "76" "11" "c.76+11G>A" "r.(=)" "p.(=)" "" "0000851150" "00009296" "30" "193" "0" "193" "0" "c.193A>T" "r.(?)" "p.(Ser65Cys)" "" "0000887133" "00009296" "70" "1006" "1" "1006" "1" "c.1006+1G>A" "r.spl?" "p.?" "" "0000924459" "00009296" "30" "21" "0" "21" "0" "c.21G>A" "r.(?)" "p.(Pro7=)" "" "0000995602" "00009296" "90" "548" "0" "548" "0" "c.548T>C" "r.(?)" "p.(Leu183Pro)" "" "0001014197" "00009296" "50" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Arg226Trp)" "" "0001047438" "00009296" "90" "502" "0" "502" "0" "c.502G>T" "r.(?)" "p.(Glu168Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 49 "{{screeningid}}" "{{variantid}}" "0000019834" "0000170766" "0000019842" "0000170785" "0000024105" "0000046542" "0000024945" "0000047767" "0000024946" "0000047768" "0000024949" "0000047773" "0000024949" "0000047774" "0000024951" "0000047769" "0000024952" "0000047772" "0000024954" "0000047770" "0000024956" "0000047771" "0000024961" "0000047834" "0000024964" "0000047780" "0000024965" "0000047779" "0000024966" "0000047781" "0000024967" "0000047782" "0000024969" "0000047783" "0000024970" "0000047784" "0000024982" "0000047777" "0000024982" "0000047785" "0000024984" "0000047786" "0000024985" "0000047789" "0000024989" "0000047787" "0000024989" "0000047788" "0000024990" "0000047778" "0000088319" "0000145983" "0000105370" "0000170768" "0000105371" "0000170771" "0000105372" "0000170773" "0000105373" "0000170775" "0000105376" "0000170778" "0000105376" "0000170779" "0000105376" "0000170780" "0000105377" "0000170782" "0000105378" "0000170784" "0000105380" "0000170787" "0000105381" "0000170790" "0000105402" "0000170813" "0000105403" "0000170814" "0000105408" "0000170825" "0000208945" "0000438985" "0000272503" "0000626428" "0000295211" "0000651900" "0000295212" "0000651901" "0000295213" "0000651902" "0000306202" "0000669890" "0000309854" "0000684756" "0000309855" "0000684757" "0000321496" "0000704354"