### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FTH1)
# 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}}"
"FTH1" "ferritin, heavy polypeptide 1" "11" "q13" "unknown" "NG_008346.1" "UD_132119117177" "" "https://www.LOVD.nl/FTH1" "" "1" "3976" "2495" "134770" "1" "1" "1" "1" "databases from the FH UCL BHF\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/FTH1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2017-09-08 15:23:07" "00000" "2026-01-20 18:57:21"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00023890" "FTH1" "ferritin, heavy polypeptide 1" "001" "NM_002032.2" "" "NP_002023.2" "" "" "" "-235" "994" "552" "61735132" "61731757" "00001" "2013-11-26 09:56:07" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"03983" "HFE5" "hemochromatosis, type 5 (HFE-5)" "AD" "615517" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"FTH1" "03983"
## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00088255" "" "" "" "1" "" "00006" "{PMID:Kato 2001:11389486}, {DOI:Kato 2001:10.1086/321261}" "3-generation family, 4 affecteds (3F, M)" "F;M" "no" "Japan" "" "0" "" "" "" ""
"00405087" "" "" "" "1" "" "00000" "{PMID:Dalvin 2016:29503890}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Denmark" "" "0" "" "" "" "patient"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}" "{{diseaseid}}"
"00088255" "03983"
"00405087" "04214"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 03983, 04214
## Count = 2
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}"
"0000067725" "03983" "00088255" "00006" "Familial, autosomal dominant" "56y" "Female patient (56y) admitted to hospital for examination of early gastric cancer. Hepatic CT: 92 units. T2-weighted MRI showed low intensity signal of liver, heart and bone marrow. Serum ferritin 1,654 μg/l; serum Fe 156 μg/dl; transferrin saturation 58%; TIBC 269 μg/dl. Histology of liver biopsy showed heavy iron deposition in most hepatocytes and some Kupffer cells. Histology of splenectomy specimen showed gross iron deposition in macrophages. Hepatic iron concentration was not measured and venesection was not performed." "" "" "" "" "" "" "" "" ""
"0000297644" "04214" "00405087" "00000" "Isolated (sporadic)" "16y" "best-corrected distance visual acuity : 0.2; refraction right/left eye: 1.00 + 1.25 x 93 / +0.25 + 1.00 x 100; intraocular pressure: 10 / 11 mmHg; slit lamp biomicroscopiy: prominent corneal nerves, trace posterior subcapsular cataract, trace to 1 + vitreous cell, massive cystoid macular edema (CME), retinal vascular attenuation (more prominent in the periphery) and extensive bone spicules in both eyes ; optical coherence tomography (OCT): CME with clear progression (oral acetazolamide for CME, and after 2e3 weeks of treatment with sustained release acetazolamide 250 mg BID (Diamox SR), his CME had nearly resolved, resulting in visual acuities of 0.3 / 0.15; OCT angiography: inner retinal microvascular capillary loss and remodeling; visual field: generalized constriction to within 20deg in both eyes; full-field scotopic electroretinography: attenuation of rod and cone responses with trace residual photopic cone responses; electrooculography Arden ratios: <1.5" "" "" "nyctalopia and constricted peripheral vision" "" "" "" "" "retinitis pigmentosa" ""
## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000088398" "00088255" "1" "00006" "00006" "2016-11-25 13:46:15" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000406327" "00405087" "1" "00000" "03840" "2022-03-15 20:14:03" "" "" "SEQ-NG" "DNA" "blood" "panel of 131 retinal dystrophy genes"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}" "{{geneid}}"
"0000088398" "FTH1"
"0000088398" "HFE"
"0000088398" "TFR2"
"0000406327" "BEST1"
## 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 = 138
"{{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}}"
"0000146069" "1" "77" "11" "61735061" "61735061" "subst" "0" "00006" "FTH1_000001" "g.61735061T>A" "" "{PMID:Kato 2001:11389486}, {DOI:Kato 2001:10.1086/321261}, {OMIM134770:0001}" "MunI+" "A49U" "variant affects RE loop sequence (CAGUG); not in 42 controls" "Germline" "yes" "rs387906549" "0" "" "" "g.61967589T>A" "" "likely pathogenic" ""
"0000146070" "0" "90" "11" "61735061" "61735061" "subst" "0" "00006" "FTH1_000001" "g.61735061T>A" "" "{PMID:Kato 2001:11389486}, {DOI:Kato 2001:10.1086/321261}" "" "" "variant IRE showed higher binding affinity to IRP\r\n(Kd=13.6 pM) than wild-type (Kd= 30 pM), suppressing H-subunit mRNA translation" "In vitro (cloned)" "-" "rs387906549" "0" "" "" "g.61967589T>A" "" "NA" ""
"0000146071" "0" "90" "11" "61735061" "61735061" "subst" "0" "00006" "FTH1_000001" "g.61735061T>A" "" "{PMID:Kato 2001:11389486}, {DOI:Kato 2001:10.1086/321261}" "" "" "over-expression cloning COS1-cells showed suppressed H-subunit synthesis and increased radiolabeled iron uptake" "In vitro (cloned)" "-" "rs387906549" "0" "" "" "g.61967589T>A" "" "NA" ""
"0000247033" "0" "10" "11" "61722571" "61722571" "subst" "0" "02330" "BEST1_000045" "g.61722571A>C" "" "" "" "BEST1(NM_001139443.2):c.-28-8A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61955099A>C" "" "benign" ""
"0000247034" "0" "10" "11" "61730637" "61730637" "subst" "0.00374471" "02330" "BEST1_000059" "g.61730637A>C" "" "" "" "BEST1(NM_001139443.2):c.*16A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61963165A>C" "" "benign" ""
"0000247066" "0" "50" "11" "61719406" "61719406" "subst" "0" "02330" "BEST1_000044" "g.61719406A>G" "" "" "" "BEST1(NM_004183.4):c.128A>G (p.Y43C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61951934A>G" "" "VUS" ""
"0000258651" "0" "10" "11" "61730100" "61730100" "subst" "0.00201842" "02330" "BEST1_000057" "g.61730100G>A" "" "" "" "BEST1(NM_001139443.1):c.1294G>A (p.V432I), BEST1(NM_001139443.2):c.1294G>A (p.V432I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61962628G>A" "" "benign" ""
"0000258652" "0" "10" "11" "61730555" "61730555" "subst" "0.000964363" "02330" "BEST1_000058" "g.61730555G>A" "" "" "" "BEST1(NM_001139443.2):c.1749G>A (p.S583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61963083G>A" "" "benign" ""
"0000258653" "0" "10" "11" "61724458" "61724458" "subst" "0.00139435" "02330" "BEST1_000047" "g.61724458G>A" "" "" "" "BEST1(NM_001139443.1):c.444G>A (p.Q148=), BEST1(NM_001139443.2):c.444G>A (p.Q148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61956986G>A" "" "benign" ""
"0000258654" "0" "10" "11" "61724841" "61724841" "subst" "0.000532135" "02330" "BEST1_000048" "g.61724841C>G" "" "" "" "BEST1(NM_001139443.2):c.457-18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61957369C>G" "" "benign" ""
"0000258655" "0" "30" "11" "61724853" "61724853" "subst" "0.000970606" "02330" "BEST1_000019" "g.61724853C>T" "" "" "" "BEST1(NM_001363593.2):c.-539-6C>T, BEST1(NM_004183.3):c.637-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61957381C>T" "" "likely benign" ""
"0000258656" "0" "50" "11" "61724863" "61724863" "subst" "0" "02330" "BEST1_000049" "g.61724863T>C" "" "" "" "BEST1(NM_001139443.2):c.461T>C (p.M154T), BEST1(NM_004183.4):c.641T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61957391T>C" "" "VUS" ""
"0000258658" "0" "30" "11" "61725648" "61725648" "subst" "0" "02330" "BEST1_000052" "g.61725648C>T" "" "" "" "BEST1(NM_001139443.2):c.565C>T (p.L189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61958176C>T" "" "likely benign" ""
"0000258659" "0" "90" "11" "61722670" "61722670" "subst" "0" "02330" "BEST1_000011" "g.61722670C>G" "" "" "" "BEST1(NM_001139443.2):c.64C>G (p.L22V), BEST1(NM_004183.3):c.244C>G (p.L82V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61955198C>G" "" "pathogenic" ""
"0000258660" "0" "90" "11" "61725751" "61725753" "del" "0" "02330" "BEST1_000053" "g.61725751_61725753del" "" "" "" "BEST1(NM_001139443.2):c.668_670delTCT (p.F223del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61958279_61958281del" "" "pathogenic" ""
"0000258661" "0" "10" "11" "61726953" "61726953" "subst" "0.00396045" "02330" "BEST1_000055" "g.61726953C>A" "" "" "" "BEST1(NM_001139443.2):c.688-17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61959481C>A" "" "benign" ""
"0000259250" "0" "10" "11" "61719387" "61719387" "subst" "0.486784" "02325" "BEST1_000003" "g.61719387T>C" "" "" "" "BEST1(NM_004183.3):c.109T>C (p.L37=), BEST1(NM_004183.4):c.109T>C (p.L37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61951915T>C" "" "benign" ""
"0000259251" "0" "10" "11" "61730036" "61730036" "subst" "0.227228" "02325" "BEST1_000039" "g.61730036G>A" "" "" "" "BEST1(NM_001139443.2):c.1230G>A (p.T410=), BEST1(NM_004183.3):c.1410G>A (p.T470=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61962564G>A" "" "benign" ""
"0000259252" "0" "10" "11" "61730234" "61730234" "subst" "0.459148" "02325" "BEST1_000041" "g.61730234T>C" "" "" "" "BEST1(NM_001139443.2):c.1428T>C (p.T476=), BEST1(NM_004183.3):c.1608T>C (p.T536=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61962762T>C" "" "benign" ""
"0000259253" "0" "10" "11" "61722645" "61722645" "subst" "0.204598" "02325" "BEST1_000010" "g.61722645C>A" "" "" "" "BEST1(NM_001139443.2):c.39C>A (p.I13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61955173C>A" "" "benign" ""
"0000263676" "0" "10" "11" "61719387" "61719387" "subst" "0.486784" "01943" "BEST1_000003" "g.61719387T>C" "" "" "" "BEST1(NM_004183.3):c.109T>C (p.L37=), BEST1(NM_004183.4):c.109T>C (p.L37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61951915T>C" "" "benign" ""
"0000263677" "0" "10" "11" "61730036" "61730036" "subst" "0.227228" "01943" "BEST1_000039" "g.61730036G>A" "" "" "" "BEST1(NM_001139443.2):c.1230G>A (p.T410=), BEST1(NM_004183.3):c.1410G>A (p.T470=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61962564G>A" "" "benign" ""
"0000263678" "0" "30" "11" "61730100" "61730100" "subst" "0.00201842" "01943" "BEST1_000057" "g.61730100G>A" "" "" "" "BEST1(NM_001139443.1):c.1294G>A (p.V432I), BEST1(NM_001139443.2):c.1294G>A (p.V432I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61962628G>A" "" "likely benign" ""
"0000263679" "0" "10" "11" "61730234" "61730234" "subst" "0.459148" "01943" "BEST1_000041" "g.61730234T>C" "" "" "" "BEST1(NM_001139443.2):c.1428T>C (p.T476=), BEST1(NM_004183.3):c.1608T>C (p.T536=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61962762T>C" "" "benign" ""
"0000263680" "0" "10" "11" "61730183" "61730183" "subst" "0.175846" "01943" "BEST1_000040" "g.61730183C>T" "" "" "" "BEST1(NM_004183.3):c.1557C>T (p.S519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61962711C>T" "" "benign" ""
"0000263681" "0" "90" "11" "61723364" "61723364" "subst" "0.000533004" "01943" "BEST1_000016" "g.61723364G>A" "" "" "" "BEST1(NM_001139443.2):c.242G>A (p.R81H), BEST1(NM_004183.3):c.422G>A (p.R141H), BEST1(NM_004183.4):c.422G>A (p.(Arg141His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61955892G>A" "" "pathogenic" ""
"0000263682" "0" "30" "11" "61724853" "61724853" "subst" "0.000970606" "01943" "BEST1_000019" "g.61724853C>T" "" "" "" "BEST1(NM_001363593.2):c.-539-6C>T, BEST1(NM_004183.3):c.637-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61957381C>T" "" "likely benign" ""
"0000263683" "0" "90" "11" "61724875" "61724875" "subst" "1.21819E-5" "01943" "BEST1_000021" "g.61724875G>A" "" "" "" "BEST1(NM_001139443.1):c.473G>A (p.R158H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61957403G>A" "" "pathogenic" ""
"0000263684" "0" "10" "11" "61724292" "61724292" "subst" "0.403953" "01943" "BEST1_000046" "g.61724292C>T" "" "" "" "BEST1(NM_004183.3):c.482-24C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61956820C>T" "" "benign" ""
"0000263685" "0" "90" "11" "61724901" "61724901" "subst" "0" "01943" "BEST1_000022" "g.61724901T>A" "" "" "" "BEST1(NM_001139443.2):c.499T>A (p.Y167N), BEST1(NM_004183.3):c.679T>A (p.Y227N), BEST1(NM_004183.4):c.679T>A (p.(Tyr227Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61957429T>A" "" "pathogenic" ""
"0000263686" "0" "90" "11" "61725763" "61725763" "subst" "1.21838E-5" "01943" "BEST1_000054" "g.61725763G>A" "" "" "" "BEST1(NM_001139443.1):c.680G>A (p.W227*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61958291G>A" "" "pathogenic" ""
"0000338507" "0" "30" "11" "61724853" "61724853" "subst" "0.000970606" "02327" "BEST1_000019" "g.61724853C>T" "" "" "" "BEST1(NM_001363593.2):c.-539-6C>T, BEST1(NM_004183.3):c.637-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61957381C>T" "" "likely benign" ""
"0000339205" "0" "10" "11" "61730183" "61730183" "subst" "0.175846" "02327" "BEST1_000040" "g.61730183C>T" "" "" "" "BEST1(NM_004183.3):c.1557C>T (p.S519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61962711C>T" "" "benign" ""
"0000340299" "0" "10" "11" "61719387" "61719387" "subst" "0.486784" "02327" "BEST1_000003" "g.61719387T>C" "" "" "" "BEST1(NM_004183.3):c.109T>C (p.L37=), BEST1(NM_004183.4):c.109T>C (p.L37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61951915T>C" "" "benign" ""
"0000340300" "0" "10" "11" "61722627" "61722627" "subst" "0.0338859" "02327" "BEST1_000009" "g.61722627G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61955155G>C" "" "benign" ""
"0000340301" "0" "10" "11" "61722645" "61722645" "subst" "0.204598" "02327" "BEST1_000010" "g.61722645C>A" "" "" "" "BEST1(NM_001139443.2):c.39C>A (p.I13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61955173C>A" "" "benign" ""
"0000340302" "0" "10" "11" "61724918" "61724918" "subst" "0.00926242" "02327" "BEST1_000024" "g.61724918C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61957446C>A" "" "benign" ""
"0000340303" "0" "10" "11" "61727438" "61727438" "subst" "0.0221466" "02327" "BEST1_000038" "g.61727438C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61959966C>T" "" "benign" ""
"0000340304" "0" "10" "11" "61730036" "61730036" "subst" "0.227228" "02327" "BEST1_000039" "g.61730036G>A" "" "" "" "BEST1(NM_001139443.2):c.1230G>A (p.T410=), BEST1(NM_004183.3):c.1410G>A (p.T470=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61962564G>A" "" "benign" ""
"0000340305" "0" "10" "11" "61730234" "61730234" "subst" "0.459148" "02327" "BEST1_000041" "g.61730234T>C" "" "" "" "BEST1(NM_001139443.2):c.1428T>C (p.T476=), BEST1(NM_004183.3):c.1608T>C (p.T536=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61962762T>C" "" "benign" ""
"0000341249" "0" "70" "11" "61724418" "61724418" "subst" "0.000251799" "02327" "BEST1_000018" "g.61724418C>T" "" "" "" "BEST1(NM_001139443.2):c.404C>T (p.A135V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61956946C>T" "" "likely pathogenic" ""
"0000341295" "0" "90" "11" "61725631" "61725631" "subst" "0" "02327" "BEST1_000027" "g.61725631C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61958159C>T" "" "pathogenic" ""
"0000341905" "0" "70" "11" "61719315" "61719315" "subst" "0" "02327" "BEST1_000006" "g.61719315C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61951843C>T" "" "likely pathogenic" ""
"0000341911" "0" "90" "11" "61723364" "61723364" "subst" "0.000533004" "02327" "BEST1_000016" "g.61723364G>A" "" "" "" "BEST1(NM_001139443.2):c.242G>A (p.R81H), BEST1(NM_004183.3):c.422G>A (p.R141H), BEST1(NM_004183.4):c.422G>A (p.(Arg141His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61955892G>A" "" "pathogenic" ""
"0000342276" "0" "90" "11" "61724874" "61724874" "subst" "0" "02327" "BEST1_000020" "g.61724874C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61957402C>T" "" "pathogenic" ""
"0000342278" "0" "90" "11" "61724875" "61724875" "subst" "1.21819E-5" "02327" "BEST1_000021" "g.61724875G>A" "" "" "" "BEST1(NM_001139443.1):c.473G>A (p.R158H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61957403G>A" "" "pathogenic" ""
"0000342448" "0" "70" "11" "61719351" "61719351" "subst" "4.11039E-6" "02327" "BEST1_000007" "g.61719351C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61951879C>T" "" "likely pathogenic" ""
"0000344004" "0" "90" "11" "61724904" "61724904" "subst" "0" "02327" "BEST1_000023" "g.61724904G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61957432G>C" "" "pathogenic" ""
"0000344045" "0" "70" "11" "61727007" "61727007" "subst" "0" "02327" "BEST1_000033" "g.61727007A>C" "" "" "" "BEST1(NM_001139443.1):c.725A>C (p.D242A), BEST1(NM_004183.3):c.905A>C (p.D302A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61959535A>C" "" "likely pathogenic" ""
"0000344046" "0" "90" "11" "61727006" "61727006" "subst" "0" "02327" "BEST1_000032" "g.61727006G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61959534G>A" "" "pathogenic" ""
"0000344054" "0" "90" "11" "61727036" "61727036" "subst" "4.87369E-5" "02327" "BEST1_000036" "g.61727036G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61959564G>A" "" "pathogenic" ""
"0000344740" "0" "70" "11" "61726979" "61726979" "subst" "0" "02327" "BEST1_000029" "g.61726979C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61959507C>A" "" "likely pathogenic" ""
"0000345707" "0" "50" "11" "61723345" "61723345" "subst" "0" "02327" "BEST1_000014" "g.61723345G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61955873G>A" "" "VUS" ""
"0000345968" "0" "90" "11" "61726998" "61726998" "subst" "0" "02327" "BEST1_000031" "g.61726998G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61959526G>C" "" "pathogenic" ""
"0000346682" "0" "70" "11" "61727031" "61727031" "subst" "0" "02327" "BEST1_000035" "g.61727031T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61959559T>C" "" "likely pathogenic" ""
"0000346891" "0" "50" "11" "61723361" "61723361" "subst" "0" "02327" "BEST1_000015" "g.61723361T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61955889T>A" "" "VUS" ""
"0000347067" "0" "70" "11" "61725739" "61725739" "subst" "0" "02327" "BEST1_000028" "g.61725739T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61958267T>A" "" "likely pathogenic" ""
"0000347319" "0" "70" "11" "61722670" "61722670" "subst" "0" "02327" "BEST1_000011" "g.61722670C>G" "" "" "" "BEST1(NM_001139443.2):c.64C>G (p.L22V), BEST1(NM_004183.3):c.244C>G (p.L82V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61955198C>G" "" "likely pathogenic" ""
"0000347812" "0" "70" "11" "61727389" "61727389" "subst" "4.90132E-5" "02327" "BEST1_000037" "g.61727389T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61959917T>C" "" "likely pathogenic" ""
"0000348359" "0" "90" "11" "61726991" "61726991" "subst" "4.06105E-6" "02327" "BEST1_000030" "g.61726991C>T" "" "" "" "BEST1(NM_004183.3):c.889C>T (p.P297S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61959519C>T" "" "pathogenic" ""
"0000349609" "0" "90" "11" "61719294" "61719294" "subst" "0" "02327" "BEST1_000004" "g.61719294A>C" "" "" "" "BEST1(NM_004183.3):c.16A>C (p.T6P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61951822A>C" "" "pathogenic" ""
"0000349865" "0" "90" "11" "61723221" "61723221" "subst" "0" "02327" "BEST1_000012" "g.61723221G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61955749G>C" "" "pathogenic" ""
"0000349924" "0" "30" "11" "61723385" "61723385" "subst" "2.11715E-5" "02327" "BEST1_000017" "g.61723385A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61955913A>T" "" "likely benign" ""
"0000349992" "0" "90" "11" "61724901" "61724901" "subst" "0" "02327" "BEST1_000022" "g.61724901T>A" "" "" "" "BEST1(NM_001139443.2):c.499T>A (p.Y167N), BEST1(NM_004183.3):c.679T>A (p.Y227N), BEST1(NM_004183.4):c.679T>A (p.(Tyr227Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61957429T>A" "" "pathogenic" ""
"0000349997" "0" "90" "11" "61724929" "61724929" "subst" "0" "02327" "BEST1_000025" "g.61724929A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61957457A>G" "" "pathogenic" ""
"0000350707" "0" "70" "11" "61719303" "61719303" "subst" "0" "02327" "BEST1_000005" "g.61719303G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61951831G>A" "" "likely pathogenic" ""
"0000544694" "0" "70" "11" "61719325" "61719325" "subst" "0" "02327" "BEST1_000069" "g.61719325C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61951853C>A" "" "likely pathogenic" ""
"0000544695" "0" "70" "11" "61723229" "61723229" "subst" "0" "02327" "BEST1_000070" "g.61723229A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61955757A>G" "" "likely pathogenic" ""
"0000544696" "0" "50" "11" "61723234" "61723234" "subst" "0" "02327" "BEST1_000071" "g.61723234G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61955762G>A" "" "VUS" ""
"0000544697" "0" "50" "11" "61723235" "61723235" "subst" "0" "01943" "BEST1_000072" "g.61723235A>G" "" "" "" "BEST1(NM_001139443.1):c.113A>G (p.E38G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61955763A>G" "" "VUS" ""
"0000544698" "0" "50" "11" "61723391" "61723391" "subst" "1.42391E-5" "02327" "BEST1_000073" "g.61723391G>C" "" "" "" "BEST1(NM_001139443.1):c.269G>C (p.R90P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61955919G>C" "" "VUS" ""
"0000544699" "0" "50" "11" "61723505" "61723505" "subst" "0" "02327" "BEST1_000074" "g.61723505A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61956033A>G" "" "VUS" ""
"0000544700" "0" "70" "11" "61724438" "61724438" "subst" "1.21889E-5" "02330" "BEST1_000075" "g.61724438C>T" "" "" "" "BEST1(NM_001139443.2):c.424C>T (p.R142W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61956966C>T" "" "likely pathogenic" ""
"0000544701" "0" "30" "11" "61724458" "61724458" "subst" "0.00139435" "01943" "BEST1_000047" "g.61724458G>A" "" "" "" "BEST1(NM_001139443.1):c.444G>A (p.Q148=), BEST1(NM_001139443.2):c.444G>A (p.Q148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61956986G>A" "" "likely benign" ""
"0000544702" "0" "10" "11" "61725606" "61725614" "dup" "0" "02325" "BEST1_000026" "g.61725606_61725614dup" "" "" "" "BEST1(NM_001139443.2):c.535-12_535-4dupTCCTCCTCC, BEST1(NM_004183.3):c.715-12_715-4dupTCCTCCTCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61958134_61958142dup" "" "benign" ""
"0000544703" "0" "30" "11" "61725606" "61725614" "dup" "0" "01943" "BEST1_000026" "g.61725606_61725614dup" "" "" "" "BEST1(NM_001139443.2):c.535-12_535-4dupTCCTCCTCC, BEST1(NM_004183.3):c.715-12_715-4dupTCCTCCTCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61958134_61958142dup" "" "likely benign" ""
"0000544704" "0" "10" "11" "61725609" "61725614" "dup" "0" "02330" "BEST1_000076" "g.61725609_61725614dup" "" "" "" "BEST1(NM_001139443.2):c.535-12_535-7dupTCCTCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61958137_61958142dup" "" "benign" ""
"0000544705" "0" "50" "11" "61725667" "61725667" "subst" "1.62433E-5" "02327" "BEST1_000077" "g.61725667G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61958195G>A" "" "VUS" ""
"0000544706" "0" "50" "11" "61725957" "61725957" "subst" "0" "02327" "BEST1_000078" "g.61725957G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61958485G>A" "" "VUS" ""
"0000544707" "0" "90" "11" "61726991" "61726991" "subst" "4.06105E-6" "01943" "BEST1_000030" "g.61726991C>T" "" "" "" "BEST1(NM_004183.3):c.889C>T (p.P297S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61959519C>T" "" "pathogenic" ""
"0000544708" "0" "10" "11" "61727414" "61727414" "subst" "4.09967E-6" "02330" "BEST1_000079" "g.61727414G>A" "" "" "" "BEST1(NM_001139443.2):c.819G>A (p.E273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61959942G>A" "" "benign" ""
"0000544709" "0" "50" "11" "61727469" "61727469" "subst" "0.000115905" "01943" "BEST1_000080" "g.61727469G>A" "" "" "" "BEST1(NM_001139443.1):c.874G>A (p.A292T), BEST1(NM_001363593.2):c.82G>A (p.A28T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61959997G>A" "" "VUS" ""
"0000544710" "0" "50" "11" "61730029" "61730029" "subst" "4.06138E-6" "02327" "BEST1_000081" "g.61730029C>T" "" "" "" "BEST1(NM_001139443.1):c.1223C>T (p.P408L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61962557C>T" "" "VUS" ""
"0000544711" "0" "30" "11" "61730144" "61730144" "subst" "0" "01943" "BEST1_000082" "g.61730144T>C" "" "" "" "BEST1(NM_004183.3):c.1518T>C (p.S506=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61962672T>C" "" "likely benign" ""
"0000544712" "0" "30" "11" "61730295" "61730295" "subst" "0.000462907" "01943" "BEST1_000061" "g.61730295G>A" "" "" "" "BEST1(NM_001139443.2):c.1489G>A (p.E497K), BEST1(NM_004183.3):c.1669G>A (p.E557K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61962823G>A" "" "likely benign" ""
"0000544713" "0" "30" "11" "61730295" "61730295" "subst" "0.000462907" "02325" "BEST1_000061" "g.61730295G>A" "" "" "" "BEST1(NM_001139443.2):c.1489G>A (p.E497K), BEST1(NM_004183.3):c.1669G>A (p.E557K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61962823G>A" "" "likely benign" ""
"0000613469" "0" "90" "11" "61719295" "61719295" "subst" "0" "01943" "BEST1_000084" "g.61719295C>G" "" "" "" "BEST1(NM_004183.3):c.17C>G (p.T6R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61951823C>G" "" "pathogenic" ""
"0000613470" "0" "50" "11" "61723244" "61723244" "subst" "0" "02327" "BEST1_000085" "g.61723244C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61955772C>G" "" "VUS" ""
"0000613471" "0" "50" "11" "61723391" "61723391" "subst" "1.42391E-5" "01943" "BEST1_000073" "g.61723391G>C" "" "" "" "BEST1(NM_001139443.1):c.269G>C (p.R90P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61955919G>C" "" "VUS" ""
"0000613472" "0" "50" "11" "61727014" "61727014" "subst" "0" "02327" "BEST1_000086" "g.61727014T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61959542T>G" "" "VUS" ""
"0000613473" "0" "90" "11" "61727385" "61727385" "subst" "0" "02327" "BEST1_000087" "g.61727385G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61959913G>T" "" "pathogenic" ""
"0000613474" "0" "50" "11" "61730029" "61730029" "subst" "4.06138E-6" "01943" "BEST1_000081" "g.61730029C>T" "" "" "" "BEST1(NM_001139443.1):c.1223C>T (p.P408L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61962557C>T" "" "VUS" ""
"0000613475" "0" "30" "11" "61730081" "61730081" "subst" "4.87381E-5" "02330" "BEST1_000088" "g.61730081G>A" "" "" "" "BEST1(NM_001139443.2):c.1275G>A (p.A425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61962609G>A" "" "likely benign" ""
"0000613476" "0" "30" "11" "61730145" "61730145" "subst" "0.000926031" "01943" "BEST1_000089" "g.61730145T>C" "" "" "" "BEST1(NM_001139443.1):c.1339T>C (p.S447P), BEST1(NM_001363593.2):c.547T>C (p.S183P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61962673T>C" "" "likely benign" ""
"0000613477" "0" "90" "11" "61730248" "61730248" "del" "0" "02327" "BEST1_000090" "g.61730248del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61962776del" "" "pathogenic" ""
"0000613478" "0" "50" "11" "61735105" "61735105" "subst" "0" "02327" "BEST1_000091" "g.61735105G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61967633G>A" "" "VUS" ""
"0000613479" "0" "50" "11" "61735118" "61735118" "subst" "0.00058548" "02327" "BEST1_000092" "g.61735118C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61967646C>T" "" "VUS" ""
"0000622653" "0" "90" "11" "61722670" "61722670" "subst" "0" "01943" "BEST1_000011" "g.61722670C>G" "" "" "" "BEST1(NM_001139443.2):c.64C>G (p.L22V), BEST1(NM_004183.3):c.244C>G (p.L82V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61955198C>G" "" "pathogenic" ""
"0000679235" "0" "50" "11" "61727482" "61727482" "subst" "2.50267E-5" "02330" "BEST1_000097" "g.61727482G>T" "" "" "" "BEST1(NM_001363592.1):c.1270G>T (p.E424*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000691104" "0" "50" "11" "61727429" "61727430" "delins" "0" "02327" "BEST1_000113" "g.61727429_61727430delinsCT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000723520" "0" "90" "11" "61719294" "61719294" "subst" "0" "01943" "BEST1_000004" "g.61719294A>C" "" "" "" "BEST1(NM_004183.3):c.16A>C (p.T6P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000723521" "0" "90" "11" "61724901" "61724901" "subst" "0" "02330" "BEST1_000022" "g.61724901T>A" "" "" "" "BEST1(NM_001139443.2):c.499T>A (p.Y167N), BEST1(NM_004183.3):c.679T>A (p.Y227N), BEST1(NM_004183.4):c.679T>A (p.(Tyr227Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000723522" "0" "70" "11" "61730285" "61730285" "dup" "0" "01943" "BEST1_000129" "g.61730285dup" "" "" "" "BEST1(NM_004183.3):c.1659dupA (p.E554Rfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000805221" "0" "30" "11" "61719436" "61719436" "subst" "3.66247E-5" "01943" "BEST1_000205" "g.61719436G>T" "" "" "" "BEST1(NM_001363592.1):c.152+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805222" "0" "50" "11" "61724863" "61724863" "subst" "0" "02327" "BEST1_000049" "g.61724863T>C" "" "" "" "BEST1(NM_001139443.2):c.461T>C (p.M154T), BEST1(NM_004183.4):c.641T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000805223" "0" "70" "11" "61724886" "61724886" "subst" "0" "02327" "BEST1_000206" "g.61724886G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000805224" "0" "90" "11" "61724901" "61724901" "subst" "0" "02329" "BEST1_000022" "g.61724901T>A" "" "" "" "BEST1(NM_001139443.2):c.499T>A (p.Y167N), BEST1(NM_004183.3):c.679T>A (p.Y227N), BEST1(NM_004183.4):c.679T>A (p.(Tyr227Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000805225" "0" "50" "11" "61727469" "61727469" "subst" "0.000115905" "02330" "BEST1_000080" "g.61727469G>A" "" "" "" "BEST1(NM_001139443.1):c.874G>A (p.A292T), BEST1(NM_001363593.2):c.82G>A (p.A28T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000842628" "0" "70" "11" "61729891" "61733239" "del" "0" "00000" "BEST1_000444" "g.61729891_61733239del" "" "{PMID:Dalvin 2016:29503890}" "" "BEST1 deletion of 9348 bases (61729891e61733239), H422fsX431" "9348 bp deletion" "De novo" "" "" "0" "" "" "g.61962419_61965767del" "" "likely pathogenic" ""
"0000853056" "0" "30" "11" "61730145" "61730145" "subst" "0.000926031" "02330" "BEST1_000089" "g.61730145T>C" "" "" "" "BEST1(NM_001139443.1):c.1339T>C (p.S447P), BEST1(NM_001363593.2):c.547T>C (p.S183P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853057" "0" "30" "11" "61735003" "61735003" "subst" "6.35971E-5" "02327" "BEST1_000466" "g.61735003G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000862605" "0" "70" "11" "61719307" "61719307" "subst" "0" "02327" "BEST1_000098" "g.61719307C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000862606" "0" "50" "11" "61723366" "61723366" "subst" "0" "02330" "BEST1_000464" "g.61723366A>T" "" "" "" "BEST1(NM_001139443.2):c.244A>T (p.S82C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000862607" "0" "30" "11" "61729841" "61729841" "subst" "0.000174668" "01943" "BEST1_000465" "g.61729841G>A" "" "" "" "BEST1(NM_001139443.1):c.1035G>A (p.R345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000862608" "0" "30" "11" "61730325" "61730325" "subst" "0.000446668" "01943" "BEST1_000001" "g.61730325C>T" "" "" "" "BEST1(NM_001139443.1):c.1519C>T (p.L507F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890003" "0" "50" "11" "61719406" "61719406" "subst" "0" "02327" "BEST1_000044" "g.61719406A>G" "" "" "" "BEST1(NM_004183.4):c.128A>G (p.Y43C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890004" "0" "70" "11" "61724418" "61724418" "subst" "0.000251799" "02330" "BEST1_000018" "g.61724418C>T" "" "" "" "BEST1(NM_001139443.2):c.404C>T (p.A135V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000890005" "0" "10" "11" "61727485" "61727485" "subst" "0.0013356" "02330" "BEST1_000065" "g.61727485C>T" "" "" "" "BEST1(NM_001363593.2):c.98C>T (p.A33V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000890006" "0" "50" "11" "61729922" "61729922" "subst" "0" "02330" "BEST1_000477" "g.61729922C>T" "" "" "" "BEST1(NM_001363593.2):c.324C>T (p.A108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000913628" "0" "30" "11" "61719438" "61719438" "subst" "0" "02330" "BEST1_000478" "g.61719438T>C" "" "" "" "BEST1(NM_001139443.2):c.-29+1539T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000929928" "0" "50" "11" "61723421" "61723421" "subst" "0" "02327" "BEST1_000480" "g.61723421C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000929929" "0" "30" "11" "61724329" "61724329" "subst" "0.000605165" "02330" "BEST1_000481" "g.61724329G>A" "" "" "" "BEST1(NM_001139443.2):c.315G>A (p.P105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000929930" "0" "70" "11" "61727022" "61727022" "subst" "0" "02327" "BEST1_000374" "g.61727022C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000949722" "0" "70" "11" "61723214" "61723214" "subst" "0" "02327" "BEST1_000257" "g.61723214C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000949723" "0" "70" "11" "61723364" "61723364" "subst" "0.000533004" "02330" "BEST1_000016" "g.61723364G>A" "" "" "" "BEST1(NM_001139443.2):c.242G>A (p.R81H), BEST1(NM_004183.3):c.422G>A (p.R141H), BEST1(NM_004183.4):c.422G>A (p.(Arg141His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000949724" "0" "50" "11" "61727429" "61727429" "subst" "0" "02327" "BEST1_000482" "g.61727429G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000949725" "0" "50" "11" "61727430" "61727430" "subst" "0" "02327" "BEST1_000483" "g.61727430A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000949726" "0" "30" "11" "61729931" "61729931" "subst" "6.09102E-5" "02327" "BEST1_000484" "g.61729931C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000949727" "0" "30" "11" "61730295" "61730295" "subst" "0.000462907" "02327" "BEST1_000061" "g.61730295G>A" "" "" "" "BEST1(NM_001139443.2):c.1489G>A (p.E497K), BEST1(NM_004183.3):c.1669G>A (p.E557K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000949728" "0" "30" "11" "61730439" "61730439" "subst" "0.00190759" "02330" "BEST1_000485" "g.61730439C>A" "" "" "" "BEST1(NM_001363593.2):c.841C>A (p.P281T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000966450" "0" "70" "11" "61727007" "61727007" "subst" "0" "01943" "BEST1_000033" "g.61727007A>C" "" "" "" "BEST1(NM_001139443.1):c.725A>C (p.D242A), BEST1(NM_004183.3):c.905A>C (p.D302A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000979689" "0" "90" "11" "61723364" "61723364" "subst" "0.000533004" "01804" "BEST1_000016" "g.61723364G>A" "" "" "" "BEST1(NM_001139443.2):c.242G>A (p.R81H), BEST1(NM_004183.3):c.422G>A (p.R141H), BEST1(NM_004183.4):c.422G>A (p.(Arg141His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000979690" "0" "50" "11" "61724433" "61724433" "subst" "1.62513E-5" "01804" "BEST1_000487" "g.61724433G>A" "" "" "" "BEST1(NM_004183.4):c.599G>A (p.(Arg200Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000979691" "0" "90" "11" "61724901" "61724901" "subst" "0" "01804" "BEST1_000022" "g.61724901T>A" "" "" "" "BEST1(NM_001139443.2):c.499T>A (p.Y167N), BEST1(NM_004183.3):c.679T>A (p.Y227N), BEST1(NM_004183.4):c.679T>A (p.(Tyr227Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000979692" "0" "50" "11" "61725707" "61725707" "subst" "0" "01804" "BEST1_000488" "g.61725707G>C" "" "" "" "BEST1(NM_004183.4):c.804G>C (p.(Glu268Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001014848" "0" "50" "11" "61722643" "61722643" "subst" "0" "02327" "BEST1_000344" "g.61722643A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001026038" "0" "70" "11" "61723342" "61723342" "subst" "3.4905E-5" "02327" "BEST1_000209" "g.61723342C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001065481" "0" "90" "11" "61726986" "61726986" "subst" "0" "02325" "BEST1_000191" "g.61726986T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 FTH1
## Count = 138
"{{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}}"
"0000146069" "00023890" "77" "-164" "0" "-164" "0" "c.-164A>T" "r.-164a>u" "p.(=)" "1"
"0000146070" "00023890" "90" "-164" "0" "-164" "0" "c.-164A>T" "r.-164a>u" "p.(=)" "1"
"0000146071" "00023890" "90" "-164" "0" "-164" "0" "c.-164A>T" "r.-164a>u" "p.(=)" "1"
"0000247033" "00023890" "10" "10180" "0" "10180" "0" "c.*9628T>G" "r.(=)" "p.(=)" ""
"0000247034" "00023890" "10" "2114" "0" "2114" "0" "c.*1562T>G" "r.(=)" "p.(=)" ""
"0000247066" "00023890" "50" "13345" "0" "13345" "0" "c.*12793T>C" "r.(=)" "p.(=)" ""
"0000258651" "00023890" "10" "2651" "0" "2651" "0" "c.*2099C>T" "r.(=)" "p.(=)" ""
"0000258652" "00023890" "10" "2196" "0" "2196" "0" "c.*1644C>T" "r.(=)" "p.(=)" ""
"0000258653" "00023890" "10" "8293" "0" "8293" "0" "c.*7741C>T" "r.(=)" "p.(=)" ""
"0000258654" "00023890" "10" "7910" "0" "7910" "0" "c.*7358G>C" "r.(=)" "p.(=)" ""
"0000258655" "00023890" "30" "7898" "0" "7898" "0" "c.*7346G>A" "r.(=)" "p.(=)" ""
"0000258656" "00023890" "50" "7888" "0" "7888" "0" "c.*7336A>G" "r.(=)" "p.(=)" ""
"0000258658" "00023890" "30" "7103" "0" "7103" "0" "c.*6551G>A" "r.(=)" "p.(=)" ""
"0000258659" "00023890" "90" "10081" "0" "10081" "0" "c.*9529G>C" "r.(=)" "p.(=)" ""
"0000258660" "00023890" "90" "7005" "0" "7007" "0" "c.*6453_*6455del" "r.(=)" "p.(=)" ""
"0000258661" "00023890" "10" "5798" "0" "5798" "0" "c.*5246G>T" "r.(=)" "p.(=)" ""
"0000259250" "00023890" "10" "13364" "0" "13364" "0" "c.*12812A>G" "r.(=)" "p.(=)" ""
"0000259251" "00023890" "10" "2715" "0" "2715" "0" "c.*2163C>T" "r.(=)" "p.(=)" ""
"0000259252" "00023890" "10" "2517" "0" "2517" "0" "c.*1965A>G" "r.(=)" "p.(=)" ""
"0000259253" "00023890" "10" "10106" "0" "10106" "0" "c.*9554G>T" "r.(=)" "p.(=)" ""
"0000263676" "00023890" "10" "13364" "0" "13364" "0" "c.*12812A>G" "r.(=)" "p.(=)" ""
"0000263677" "00023890" "10" "2715" "0" "2715" "0" "c.*2163C>T" "r.(=)" "p.(=)" ""
"0000263678" "00023890" "30" "2651" "0" "2651" "0" "c.*2099C>T" "r.(=)" "p.(=)" ""
"0000263679" "00023890" "10" "2517" "0" "2517" "0" "c.*1965A>G" "r.(=)" "p.(=)" ""
"0000263680" "00023890" "10" "2568" "0" "2568" "0" "c.*2016G>A" "r.(=)" "p.(=)" ""
"0000263681" "00023890" "90" "9387" "0" "9387" "0" "c.*8835C>T" "r.(=)" "p.(=)" ""
"0000263682" "00023890" "30" "7898" "0" "7898" "0" "c.*7346G>A" "r.(=)" "p.(=)" ""
"0000263683" "00023890" "90" "7876" "0" "7876" "0" "c.*7324C>T" "r.(=)" "p.(=)" ""
"0000263684" "00023890" "10" "8459" "0" "8459" "0" "c.*7907G>A" "r.(=)" "p.(=)" ""
"0000263685" "00023890" "90" "7850" "0" "7850" "0" "c.*7298A>T" "r.(=)" "p.(=)" ""
"0000263686" "00023890" "90" "6988" "0" "6988" "0" "c.*6436C>T" "r.(=)" "p.(=)" ""
"0000338507" "00023890" "30" "7898" "0" "7898" "0" "c.*7346G>A" "r.(=)" "p.(=)" ""
"0000339205" "00023890" "10" "2568" "0" "2568" "0" "c.*2016G>A" "r.(=)" "p.(=)" ""
"0000340299" "00023890" "10" "13364" "0" "13364" "0" "c.*12812A>G" "r.(=)" "p.(=)" ""
"0000340300" "00023890" "10" "10124" "0" "10124" "0" "c.*9572C>G" "r.(=)" "p.(=)" ""
"0000340301" "00023890" "10" "10106" "0" "10106" "0" "c.*9554G>T" "r.(=)" "p.(=)" ""
"0000340302" "00023890" "10" "7833" "0" "7833" "0" "c.*7281G>T" "r.(=)" "p.(=)" ""
"0000340303" "00023890" "10" "5313" "0" "5313" "0" "c.*4761G>A" "r.(=)" "p.(=)" ""
"0000340304" "00023890" "10" "2715" "0" "2715" "0" "c.*2163C>T" "r.(=)" "p.(=)" ""
"0000340305" "00023890" "10" "2517" "0" "2517" "0" "c.*1965A>G" "r.(=)" "p.(=)" ""
"0000341249" "00023890" "70" "8333" "0" "8333" "0" "c.*7781G>A" "r.(=)" "p.(=)" ""
"0000341295" "00023890" "90" "7120" "0" "7120" "0" "c.*6568G>A" "r.(=)" "p.(=)" ""
"0000341905" "00023890" "70" "13436" "0" "13436" "0" "c.*12884G>A" "r.(=)" "p.(=)" ""
"0000341911" "00023890" "90" "9387" "0" "9387" "0" "c.*8835C>T" "r.(=)" "p.(=)" ""
"0000342276" "00023890" "90" "7877" "0" "7877" "0" "c.*7325G>A" "r.(=)" "p.(=)" ""
"0000342278" "00023890" "90" "7876" "0" "7876" "0" "c.*7324C>T" "r.(=)" "p.(=)" ""
"0000342448" "00023890" "70" "13400" "0" "13400" "0" "c.*12848G>A" "r.(=)" "p.(=)" ""
"0000344004" "00023890" "90" "7847" "0" "7847" "0" "c.*7295C>G" "r.(=)" "p.(=)" ""
"0000344045" "00023890" "70" "5744" "0" "5744" "0" "c.*5192T>G" "r.(=)" "p.(=)" ""
"0000344046" "00023890" "90" "5745" "0" "5745" "0" "c.*5193C>T" "r.(=)" "p.(=)" ""
"0000344054" "00023890" "90" "5715" "0" "5715" "0" "c.*5163C>T" "r.(=)" "p.(=)" ""
"0000344740" "00023890" "70" "5772" "0" "5772" "0" "c.*5220G>T" "r.(=)" "p.(=)" ""
"0000345707" "00023890" "50" "9406" "0" "9406" "0" "c.*8854C>T" "r.(=)" "p.(=)" ""
"0000345968" "00023890" "90" "5753" "0" "5753" "0" "c.*5201C>G" "r.(=)" "p.(=)" ""
"0000346682" "00023890" "70" "5720" "0" "5720" "0" "c.*5168A>G" "r.(=)" "p.(=)" ""
"0000346891" "00023890" "50" "9390" "0" "9390" "0" "c.*8838A>T" "r.(=)" "p.(=)" ""
"0000347067" "00023890" "70" "7012" "0" "7012" "0" "c.*6460A>T" "r.(=)" "p.(=)" ""
"0000347319" "00023890" "70" "10081" "0" "10081" "0" "c.*9529G>C" "r.(=)" "p.(=)" ""
"0000347812" "00023890" "70" "5362" "0" "5362" "0" "c.*4810A>G" "r.(=)" "p.(=)" ""
"0000348359" "00023890" "90" "5760" "0" "5760" "0" "c.*5208G>A" "r.(=)" "p.(=)" ""
"0000349609" "00023890" "90" "13457" "0" "13457" "0" "c.*12905T>G" "r.(=)" "p.(=)" ""
"0000349865" "00023890" "90" "9530" "0" "9530" "0" "c.*8978C>G" "r.(=)" "p.(=)" ""
"0000349924" "00023890" "30" "9366" "0" "9366" "0" "c.*8814T>A" "r.(=)" "p.(=)" ""
"0000349992" "00023890" "90" "7850" "0" "7850" "0" "c.*7298A>T" "r.(=)" "p.(=)" ""
"0000349997" "00023890" "90" "7822" "0" "7822" "0" "c.*7270T>C" "r.(=)" "p.(=)" ""
"0000350707" "00023890" "70" "13448" "0" "13448" "0" "c.*12896C>T" "r.(=)" "p.(=)" ""
"0000544694" "00023890" "70" "13426" "0" "13426" "0" "c.*12874G>T" "r.(=)" "p.(=)" ""
"0000544695" "00023890" "70" "9522" "0" "9522" "0" "c.*8970T>C" "r.(=)" "p.(=)" ""
"0000544696" "00023890" "50" "9517" "0" "9517" "0" "c.*8965C>T" "r.(=)" "p.(=)" ""
"0000544697" "00023890" "50" "9516" "0" "9516" "0" "c.*8964T>C" "r.(=)" "p.(=)" ""
"0000544698" "00023890" "50" "9360" "0" "9360" "0" "c.*8808C>G" "r.(=)" "p.(=)" ""
"0000544699" "00023890" "50" "9246" "0" "9246" "0" "c.*8694T>C" "r.(=)" "p.(=)" ""
"0000544700" "00023890" "70" "8313" "0" "8313" "0" "c.*7761G>A" "r.(=)" "p.(=)" ""
"0000544701" "00023890" "30" "8293" "0" "8293" "0" "c.*7741C>T" "r.(=)" "p.(=)" ""
"0000544702" "00023890" "10" "7143" "0" "7151" "0" "c.*6591_*6599dup" "r.(=)" "p.(=)" ""
"0000544703" "00023890" "30" "7143" "0" "7151" "0" "c.*6591_*6599dup" "r.(=)" "p.(=)" ""
"0000544704" "00023890" "10" "7146" "0" "7151" "0" "c.*6594_*6599dup" "r.(=)" "p.(=)" ""
"0000544705" "00023890" "50" "7084" "0" "7084" "0" "c.*6532C>T" "r.(=)" "p.(=)" ""
"0000544706" "00023890" "50" "6794" "0" "6794" "0" "c.*6242C>T" "r.(=)" "p.(=)" ""
"0000544707" "00023890" "90" "5760" "0" "5760" "0" "c.*5208G>A" "r.(=)" "p.(=)" ""
"0000544708" "00023890" "10" "5337" "0" "5337" "0" "c.*4785C>T" "r.(=)" "p.(=)" ""
"0000544709" "00023890" "50" "5282" "0" "5282" "0" "c.*4730C>T" "r.(=)" "p.(=)" ""
"0000544710" "00023890" "50" "2722" "0" "2722" "0" "c.*2170G>A" "r.(=)" "p.(=)" ""
"0000544711" "00023890" "30" "2607" "0" "2607" "0" "c.*2055A>G" "r.(=)" "p.(=)" ""
"0000544712" "00023890" "30" "2456" "0" "2456" "0" "c.*1904C>T" "r.(=)" "p.(=)" ""
"0000544713" "00023890" "30" "2456" "0" "2456" "0" "c.*1904C>T" "r.(=)" "p.(=)" ""
"0000613469" "00023890" "90" "13456" "0" "13456" "0" "c.*12904G>C" "r.(=)" "p.(=)" ""
"0000613470" "00023890" "50" "9507" "0" "9507" "0" "c.*8955G>C" "r.(=)" "p.(=)" ""
"0000613471" "00023890" "50" "9360" "0" "9360" "0" "c.*8808C>G" "r.(=)" "p.(=)" ""
"0000613472" "00023890" "50" "5737" "0" "5737" "0" "c.*5185A>C" "r.(=)" "p.(=)" ""
"0000613473" "00023890" "90" "5366" "0" "5366" "0" "c.*4814C>A" "r.(=)" "p.(=)" ""
"0000613474" "00023890" "50" "2722" "0" "2722" "0" "c.*2170G>A" "r.(=)" "p.(=)" ""
"0000613475" "00023890" "30" "2670" "0" "2670" "0" "c.*2118C>T" "r.(=)" "p.(=)" ""
"0000613476" "00023890" "30" "2606" "0" "2606" "0" "c.*2054A>G" "r.(=)" "p.(=)" ""
"0000613477" "00023890" "90" "2503" "0" "2503" "0" "c.*1951del" "r.(?)" "p.(=)" ""
"0000613478" "00023890" "50" "-208" "0" "-208" "0" "c.-208C>T" "r.(?)" "p.(=)" ""
"0000613479" "00023890" "50" "-221" "0" "-221" "0" "c.-221G>A" "r.(?)" "p.(=)" ""
"0000622653" "00023890" "90" "10081" "0" "10081" "0" "c.*9529G>C" "r.(=)" "p.(=)" ""
"0000679235" "00023890" "50" "5269" "0" "5269" "0" "c.*4717C>A" "r.(=)" "p.(=)" ""
"0000691104" "00023890" "50" "5321" "0" "5322" "0" "c.*4769_*4770delinsAG" "r.(=)" "p.(=)" ""
"0000723520" "00023890" "90" "13457" "0" "13457" "0" "c.*12905T>G" "r.(=)" "p.(=)" ""
"0000723521" "00023890" "90" "7850" "0" "7850" "0" "c.*7298A>T" "r.(=)" "p.(=)" ""
"0000723522" "00023890" "70" "2468" "0" "2468" "0" "c.*1916dup" "r.(?)" "p.(=)" ""
"0000805221" "00023890" "30" "13315" "0" "13315" "0" "c.*12763C>A" "r.(=)" "p.(=)" ""
"0000805222" "00023890" "50" "7888" "0" "7888" "0" "c.*7336A>G" "r.(=)" "p.(=)" ""
"0000805223" "00023890" "70" "7865" "0" "7865" "0" "c.*7313C>T" "r.(=)" "p.(=)" ""
"0000805224" "00023890" "90" "7850" "0" "7850" "0" "c.*7298A>T" "r.(=)" "p.(=)" ""
"0000805225" "00023890" "50" "5282" "0" "5282" "0" "c.*4730C>T" "r.(=)" "p.(=)" ""
"0000842628" "00023890" "70" "0" "0" "0" "0" "c.115-252_*442{0}" "r.?" "p.?" "1i_4_"
"0000853056" "00023890" "30" "2606" "0" "2606" "0" "c.*2054A>G" "r.(=)" "p.(=)" ""
"0000853057" "00023890" "30" "-106" "0" "-106" "0" "c.-106C>T" "r.(?)" "p.(=)" ""
"0000862605" "00023890" "70" "13444" "0" "13444" "0" "c.*12892G>A" "r.(=)" "p.(=)" ""
"0000862606" "00023890" "50" "9385" "0" "9385" "0" "c.*8833T>A" "r.(=)" "p.(=)" ""
"0000862607" "00023890" "30" "2910" "0" "2910" "0" "c.*2358C>T" "r.(=)" "p.(=)" ""
"0000862608" "00023890" "30" "2426" "0" "2426" "0" "c.*1874G>A" "r.(=)" "p.(=)" ""
"0000890003" "00023890" "50" "13345" "0" "13345" "0" "c.*12793T>C" "r.(=)" "p.(=)" ""
"0000890004" "00023890" "70" "8333" "0" "8333" "0" "c.*7781G>A" "r.(=)" "p.(=)" ""
"0000890005" "00023890" "10" "5266" "0" "5266" "0" "c.*4714G>A" "r.(=)" "p.(=)" ""
"0000890006" "00023890" "50" "2829" "0" "2829" "0" "c.*2277G>A" "r.(=)" "p.(=)" ""
"0000913628" "00023890" "30" "13313" "0" "13313" "0" "c.*12761A>G" "r.(=)" "p.(=)" ""
"0000929928" "00023890" "50" "9330" "0" "9330" "0" "c.*8778G>C" "r.(=)" "p.(=)" ""
"0000929929" "00023890" "30" "8422" "0" "8422" "0" "c.*7870C>T" "r.(=)" "p.(=)" ""
"0000929930" "00023890" "70" "5729" "0" "5729" "0" "c.*5177G>T" "r.(=)" "p.(=)" ""
"0000949722" "00023890" "70" "9537" "0" "9537" "0" "c.*8985G>A" "r.(=)" "p.(=)" ""
"0000949723" "00023890" "70" "9387" "0" "9387" "0" "c.*8835C>T" "r.(=)" "p.(=)" ""
"0000949724" "00023890" "50" "5322" "0" "5322" "0" "c.*4770C>G" "r.(=)" "p.(=)" ""
"0000949725" "00023890" "50" "5321" "0" "5321" "0" "c.*4769T>A" "r.(=)" "p.(=)" ""
"0000949726" "00023890" "30" "2820" "0" "2820" "0" "c.*2268G>A" "r.(=)" "p.(=)" ""
"0000949727" "00023890" "30" "2456" "0" "2456" "0" "c.*1904C>T" "r.(=)" "p.(=)" ""
"0000949728" "00023890" "30" "2312" "0" "2312" "0" "c.*1760G>T" "r.(=)" "p.(=)" ""
"0000966450" "00023890" "70" "5744" "0" "5744" "0" "c.*5192T>G" "r.(=)" "p.(=)" ""
"0000979689" "00023890" "90" "9387" "0" "9387" "0" "c.*8835C>T" "r.(=)" "p.(=)" ""
"0000979690" "00023890" "50" "8318" "0" "8318" "0" "c.*7766C>T" "r.(=)" "p.(=)" ""
"0000979691" "00023890" "90" "7850" "0" "7850" "0" "c.*7298A>T" "r.(=)" "p.(=)" ""
"0000979692" "00023890" "50" "7044" "0" "7044" "0" "c.*6492C>G" "r.(=)" "p.(=)" ""
"0001014848" "00023890" "50" "10108" "0" "10108" "0" "c.*9556T>G" "r.(=)" "p.(=)" ""
"0001026038" "00023890" "70" "9409" "0" "9409" "0" "c.*8857G>C" "r.(=)" "p.(=)" ""
"0001065481" "00023890" "90" "5765" "0" "5765" "0" "c.*5213A>G" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{variantid}}"
"0000088398" "0000146069"
"0000406327" "0000842628"