### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MAF)
# 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}}"
"MAF" "v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian)" "16" "q22-q23" "unknown" "NG_016440.2" "UD_132085347217" "" "https://www.LOVD.nl/MAF" "" "1" "6776" "4094" "177075" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/MAF_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2010-03-01 00:00:00" "00006" "2023-03-20 11:10:09" "00000" "2024-10-29 21:08:56"
## 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}}"
"00024190" "MAF" "v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog, transcript variant 1" "001" "NM_005360.4" "" "NP_005351.2" "" "" "" "-823" "1824" "1212" "79634622" "79627745" "00006" "2016-10-18 20:58:01" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" ""
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33"
"02915" "CTCRT21;CCA4" "cataract, type 21, multiple types (CTRCT-21, cataract, cerulean, congenital, type 4 (CCA-4))" "AD" "610202" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04568" "AYGRP" "Ayme-Gripp syndrome (AYGRP)" "AD" "601088" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"MAF" "02915"
"MAF" "04568"
## Individuals ## Do not remove or alter this header ##
## Count = 20
"{{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}}"
"00065070" "" "" "" "5" "" "01588" "{PMID:Jamieson 2002:11772997}" "" "" "" "" "" "" "" "" "" ""
"00065071" "" "" "" "12" "" "01588" "{PMID:Vanita 2006:16470690}" "" "" "" "India" "" "" "" "" "" ""
"00065072" "" "" "" "4" "" "01588" "{PMID:Hansen 2007:17982426}, {PMID:Hansen 2009:19182255}" "4 affected individuals from a family" "" "" "Denmark" "" "0" "" "" "" "CCMC0112"
"00065073" "" "" "" "6" "" "01588" "{PMID:Hansen 2009:19182255}" "4-generation family, 6 affected (5F, 1M)" "" "" "Denmark" "" "0" "" "" "" "CCMC0113"
"00065074" "" "" "" "6" "" "01588" "{PMID:Narumi 2014:24664492}" "" "" "" "Japan" "" "" "" "" "" ""
"00065075" "" "" "" "7" "" "01588" "{PMID:Sun 2014:24968223}" "" "" "" "China" "" "" "" "" "" ""
"00065076" "" "" "" "1" "" "01588" "{PMID:Niceta 2015:25865493}" "" "" "" "" "" "" "" "" "" ""
"00183351" "" "" "" "4" "" "00006" "{PMID:Dudakova 2017:28849415}" "3-generation family, 4 affected (2F, 2M), paternal grandmother and son III3, father (II4) not available" "F;M" "no" "Czech Republic" "" "0" "" "" "" "28849415-FamPatI1/III3"
"00183353" "" "" "00183351" "1" "" "00006" "{PMID:Dudakova 2017:28849415}" "" "F" "" "Czech Republic" "" "0" "" "" "" "28849415-FamPatIII1"
"00336007" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 181 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00382147" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "96"
"00434248" "" "" "" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam25141"
"00444347" "" "" "" "1" "" "00006" "{PMID:Li 2018:29914532}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "China" "" "0" "" "" "" "FamPat11"
"00444890" "" "" "" "3" "" "00006" "{PMID:Ma 2016:26694549}" "2-generation family, 3 affected father/2 sons" "M" "" "Australia" "" "0" "" "" "" "Fam6PatII1"
"00444910" "" "" "" "1" "" "00006" "{PMID:Ma 2016:26694549}" "2-generation family, 1 affected, unaffected parents" "M" "" "Australia" "" "0" "" "" "" "Fam27PatII1"
"00444913" "" "" "" "1" "" "00006" "{PMID:Ma 2016:26694549}" "2-generation family, 1 affected, unaffected parents" "F" "" "Australia" "" "0" "" "" "" "Fam30PatII1"
"00445092" "" "" "" "4" "" "00006" "{PMID:Reichsteiner 2021:34014271}" "3-generation family, 4 affected (3F, M)" "F" "" "Switzerland" "" "0" "" "" "" "Fam11PatI1"
"00446528" "" "" "" "2" "" "00006" "{PMID:Liu 2023:37337769}" "family, 1 affected" "F" "" "China" "" "0" "" "" "" "Fam131Pat349"
"00446529" "" "" "00446528" "1" "" "00006" "{PMID:Liu 2023:37337769}" "relative" "M" "" "China" "" "0" "" "" "" "Fam131Pat350"
"00448178" "" "" "" "1" "" "00006" "{PMID:Poli 2024:38177409}" "" "F" "" "Chile" "" "0" "" "" "" "Pat4"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 20
"{{individualid}}" "{{diseaseid}}"
"00065070" "00296"
"00065071" "00296"
"00065072" "00296"
"00065073" "00296"
"00065074" "00296"
"00065075" "00296"
"00065076" "00198"
"00183351" "00296"
"00183353" "00296"
"00336007" "00296"
"00382147" "02915"
"00434248" "00198"
"00444347" "00296"
"00444890" "00296"
"00444910" "00296"
"00444913" "00296"
"00445092" "00296"
"00446528" "00296"
"00446529" "00000"
"00448178" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00296, 02915, 04568
## Count = 18
"{{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}}"
"0000061166" "00296" "00065070" "01588" "Unknown" "" "Congenital cataract, iris coloboma, microcornea" "" "" "" "" "" "" "" "" "" "" ""
"0000061167" "00296" "00065071" "01588" "Unknown" "" "Cerulean cataract, microcornea" "" "" "" "" "" "" "" "" "" "" ""
"0000061168" "00296" "00065072" "01588" "Unknown" "" "Congenital cataract, microcornea" "" "" "" "" "" "" "" "" "" "" ""
"0000061169" "00296" "00065073" "01588" "Familial, autosomal dominant" "" "congenital cataract, microcornea" "" "" "" "" "" "" "" "" "CTRCT1" "cataract" ""
"0000061170" "00296" "00065074" "01588" "Unknown" "" "Congenital cataract, iris coloboma, microcornea" "" "" "" "" "" "" "" "" "" "" ""
"0000061171" "00296" "00065075" "01588" "Unknown" "" "Congenital cataract, Nystagmus" "" "" "" "" "" "" "" "" "" "" ""
"0000144087" "00296" "00183351" "00006" "Familial, autosomal dominant" "" "PatI1 (65y) bilateral catarat 16y, best corrected visual acuity R 0.33/L ?, iris coloboma R, no microcornea;55y-left enucleated for secondary glaucoma\r\nPatIII3 (17y) bilateral nuclear cataract, best corrected visual acuity R 0.1/L 0.25, iris no coloboma, no microcornea, horizontal nystagmus (L+R)" "" "" "" "" "" "" "" "" "CTRCT-4" "cataract" ""
"0000144089" "00296" "00183353" "00006" "Familial, autosomal dominant" "23y" "9m-cataract (R+L), no light perception, no iris coloboma, microcornea (L+R), horizontal and rotatory nystagmus (L+R), accurate corneal diameter measurements could not be obtained" "" "" "" "" "" "" "" "" "" "cataract" ""
"0000253922" "00296" "00336007" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "childhood cataract" ""
"0000275989" "02915" "00382147" "00000" "Familial, autosomal dominant" "" "congenital cataract; MIM, 610202" "" "" "" "" "" "" "" "" "" "MIM, 610202" ""
"0000324606" "00198" "00434248" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CTRCT21" "cataract" ""
"0000333600" "00296" "00444347" "00006" "Isolated (sporadic)" "" "posterior polar cataract" "0d" "" "" "" "" "" "" "" "" "cataract" ""
"0000334140" "00296" "00444890" "00006" "Familial, X-linked" "" "see paper; ..., bilateral dense central nuclear, intellectual disability, large teeth, dysmorphic facies; brother HCD 11.25 AXL 20.88, aphakic glaucoma, 3y-Baerveldt tube; father cerulean cataracts HCD 12 AXL 24.5" "" "" "" "" "" "" "" "" "CTCRT40" "cataract" ""
"0000334160" "00296" "00444910" "00006" "Isolated (sporadic)" "" "see paper; ..., bilateral cataract, aphakic glaucoma, 3y-corneal ulcers, 5y-visual acuity R 6/60 L 6/2" "" "" "" "" "" "" "" "" "CTCRT21" "cataract" ""
"0000334163" "00296" "00444913" "00006" "Isolated (sporadic)" "" "see paper; ..., bilateral cataract, 2y-visual acuity 6/80bilateral" "" "" "" "" "" "" "" "" "CTCRT21" "cataract" ""
"0000334345" "00296" "00445092" "00006" "Familial, autosomal dominant" "" "cataract; non-syndromic; aphakic glaucoma" "" "" "" "" "" "" "" "" "CTRCT21" "cataract" ""
"0000335739" "00296" "00446528" "00006" "Unknown" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" ""
"0000337388" "00198" "00448178" "00006" "Familial, autosomal dominant" "4y" "developmental delay; speech delay; labia anomalies; limb anomalies; dysmorphic facial features; mother (unavailable) with similar phenotype" "" "" "" "" "" "" "" "" "" "rare disorder" ""
## Screenings ## Do not remove or alter this header ##
## Count = 20
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000065212" "00065070" "1" "01588" "01588" "2016-05-16 22:36:32" "" "" "arraySNP" "DNA;protein" "" ""
"0000065213" "00065071" "1" "01588" "01588" "2016-05-16 22:46:14" "" "" "arraySNP" "DNA;protein" "" ""
"0000065214" "00065072" "1" "01588" "01588" "2016-05-16 22:49:13" "" "" "arraySNP" "DNA;protein" "" ""
"0000065215" "00065073" "1" "01588" "01588" "2016-05-16 22:53:50" "" "" "arraySNP" "DNA;protein" "" ""
"0000065216" "00065074" "1" "01588" "01588" "2016-05-16 22:55:59" "" "" "arraySNP" "DNA;protein" "" ""
"0000065217" "00065075" "1" "01588" "01588" "2016-05-16 22:58:01" "" "" "arraySNP" "DNA;protein" "" ""
"0000065218" "00065076" "1" "01588" "01588" "2016-05-16 23:00:59" "" "" "arraySNP" "DNA;protein" "" ""
"0000184312" "00183351" "1" "00006" "00006" "2018-10-23 17:35:46" "" "" "SEQ" "DNA" "" "WES"
"0000184314" "00183353" "1" "00006" "00006" "2018-10-23 17:45:47" "" "" "SEQ" "DNA" "" ""
"0000337237" "00336007" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000383363" "00382147" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" ""
"0000435716" "00434248" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000445915" "00444347" "1" "00006" "00006" "2023-12-21 22:12:43" "" "" "SEQ;SEQ-NG" "DNA" "" "80 gene panel"
"0000446459" "00444890" "1" "00006" "00006" "2023-12-28 19:27:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000446479" "00444910" "1" "00006" "00006" "2023-12-28 19:27:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000446482" "00444913" "1" "00006" "00006" "2023-12-28 19:27:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000446662" "00445092" "1" "00006" "00006" "2024-01-02 18:58:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000448101" "00446528" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel"
"0000448102" "00446529" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel"
"0000449753" "00448178" "1" "00006" "00006" "2024-02-22 17:47:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 12
"{{screeningid}}" "{{geneid}}"
"0000065212" "MAF"
"0000065213" "MAF"
"0000065214" "MAF"
"0000065215" "MAF"
"0000065216" "MAF"
"0000065217" "MAF"
"0000065218" "MAF"
"0000184312" "CRYGD"
"0000184312" "MAF"
"0000184314" "MAF"
"0000337237" "MAF"
"0000383363" "MAF"
## 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 = 58
"{{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}}"
"0000096874" "1" "90" "16" "79632937" "79632937" "subst" "0" "01588" "MAF_000011" "g.79632937C>G" "" "{PMID:Jamieson 2002:11772997}" "" "1670G>C (Arg288Pro)" "" "Germline" "yes" "" "0" "" "" "g.79599040C>G" "" "pathogenic" ""
"0000096875" "1" "90" "16" "79632910" "79632910" "subst" "0" "01588" "MAF_000009" "g.79632910T>C" "" "{PMID:Vanita 2006:16470690}" "" "" "" "Germline" "yes" "" "0" "" "" "g.79599013T>C" "" "pathogenic" ""
"0000096876" "1" "70" "16" "79632905" "79632905" "subst" "0" "01588" "MAF_000008" "g.79632905G>T" "" "{PMID:Hansen 2007:17982426}, {PMID:Hansen 2009:19182255}" "" "" "" "Germline" "" "" "0" "" "" "g.79599008G>T" "" "likely pathogenic" ""
"0000096879" "0" "70" "16" "79632842" "79632842" "subst" "4.06418E-6" "01588" "MAF_000013" "g.79632842T>C" "" "{PMID:Hansen 2009:19182255}" "" "" "" "Germline" "" "" "0" "" "" "g.79598945T>C" "" "likely pathogenic" ""
"0000096880" "1" "90" "16" "79632892" "79632892" "subst" "0" "01588" "MAF_000007" "g.79632892T>G" "" "{PMID:Narumi 2014:24664492}" "" "" "" "Germline" "yes" "" "0" "" "" "g.79598995T>G" "" "pathogenic" ""
"0000096881" "0" "90" "16" "79632920" "79632920" "subst" "0" "01588" "MAF_000010" "g.79632920G>A" "" "{PMID:Sun 2014:24968223}" "" "" "" "Germline" "?" "" "0" "" "" "g.79599023G>A" "" "pathogenic" ""
"0000096882" "0" "90" "16" "79633639" "79633639" "subst" "0" "01588" "MAF_000006" "g.79633639G>A" "" "{PMID:Niceta 2015:25865493}" "" "" "" "De novo" "" "" "0" "" "" "g.79599742G>A" "" "pathogenic" ""
"0000096883" "0" "90" "16" "79633628" "79633628" "subst" "0" "01588" "MAF_000005" "g.79633628T>C" "" "{PMID:Niceta 2015:25865493}" "" "" "" "De novo" "" "" "0" "" "" "g.79599731T>C" "" "pathogenic" ""
"0000096884" "1" "90" "16" "79633594" "79633594" "subst" "0" "01588" "MAF_000012" "g.79633594G>C" "" "{PMID:Niceta 2015:25865493}" "" "" "" "De novo" "" "" "0" "" "" "g.79599697G>C" "" "pathogenic" ""
"0000096885" "0" "90" "16" "79633627" "79633627" "subst" "0" "01588" "MAF_000004" "g.79633627G>A" "" "{PMID:Niceta 2015:25865493}" "" "" "" "Germline" "" "" "0" "" "" "g.79599730G>A" "" "pathogenic" ""
"0000096886" "0" "90" "16" "79633624" "79633624" "subst" "0" "01588" "MAF_000002" "g.79633624G>T" "" "{PMID:Niceta 2015:25865493}" "" "" "" "De novo" "" "" "0" "" "" "g.79599727G>T" "" "pathogenic" ""
"0000096887" "0" "90" "16" "79633624" "79633624" "subst" "0" "01588" "MAF_000003" "g.79633624G>A" "" "{PMID:Niceta 2015:25865493}" "" "" "" "De novo" "" "" "0" "" "" "g.79599727G>A" "" "pathogenic" ""
"0000096888" "0" "90" "16" "79633615" "79633615" "subst" "0" "01588" "MAF_000001" "g.79633615G>C" "" "{PMID:Niceta 2015:25865493}" "" "" "" "De novo" "-" "" "0" "" "" "g.79599718G>C" "" "pathogenic" ""
"0000096889" "0" "90" "16" "79633639" "79633639" "subst" "0" "01588" "MAF_000006" "g.79633639G>A" "" "{PMID:Niceta 2015:25865493}" "" "" "" "De novo" "" "" "0" "" "" "g.79599742G>A" "" "pathogenic" ""
"0000256240" "0" "50" "16" "79633003" "79633003" "subst" "0" "01943" "MAF_000016" "g.79633003A>C" "" "" "" "MAF(NM_001031804.2):c.797T>G (p.L266R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79599106A>C" "" "VUS" ""
"0000283619" "0" "50" "16" "79633603" "79633603" "subst" "0" "02329" "MAF_000022" "g.79633603G>C" "" "" "" "MAF(NM_001031804.3):c.197C>G (p.S66W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79599706G>C" "" "VUS" ""
"0000291315" "0" "30" "16" "79628390" "79628390" "subst" "0.000643879" "01943" "MAF_000014" "g.79628390C>T" "" "" "" "MAF(NM_005360.4):c.1179G>A (p.Q393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79594493C>T" "" "likely benign" ""
"0000291316" "0" "30" "16" "79633560" "79633560" "subst" "0.000228843" "01943" "MAF_000021" "g.79633560C>G" "" "" "" "MAF(NM_001031804.2):c.240G>C (p.S80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79599663C>G" "" "likely benign" ""
"0000291317" "0" "30" "16" "79633515" "79633515" "subst" "0.000154761" "01943" "MAF_000020" "g.79633515G>T" "" "" "" "MAF(NM_001031804.2):c.285C>A (p.T95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79599618G>T" "" "likely benign" ""
"0000291318" "0" "50" "16" "79633367" "79633367" "subst" "0.00119689" "01943" "MAF_000019" "g.79633367C>T" "" "" "" "MAF(NM_001031804.2):c.433G>A (p.G145S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79599470C>T" "" "VUS" ""
"0000291319" "0" "50" "16" "79633321" "79633321" "subst" "0" "01943" "MAF_000018" "g.79633321G>A" "" "" "" "MAF(NM_001031804.2):c.479C>T (p.A160V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79599424G>A" "" "VUS" ""
"0000291320" "0" "50" "16" "79633795" "79633795" "subst" "1.79808E-5" "01943" "MAF_000023" "g.79633795G>T" "" "" "" "MAF(NM_001031804.2):c.5C>A (p.A2E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79599898G>T" "" "VUS" ""
"0000340899" "0" "30" "16" "79633200" "79633200" "subst" "0" "02327" "MAF_000024" "g.79633200G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79599303G>C" "" "likely benign" ""
"0000408333" "10" "90" "16" "79632991" "79632991" "subst" "0" "00006" "MAF_000025" "g.79632991G>T" "" "{PMID:Dudakova 2017:28849415}" "" "" "" "Germline" "" "" "0" "" "" "g.79599094G>T" "" "pathogenic" ""
"0000408335" "10" "90" "16" "79632991" "79632991" "subst" "0" "00006" "MAF_000025" "g.79632991G>T" "" "{PMID:Dudakova 2017:28849415}" "" "" "" "Germline" "yes" "" "0" "" "" "g.79599094G>T" "" "pathogenic" ""
"0000559234" "0" "30" "16" "79628410" "79628410" "subst" "0" "01943" "MAF_000026" "g.79628410C>T" "" "" "" "MAF(NM_005360.4):c.1159G>A (p.A387T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79594513C>T" "" "likely benign" ""
"0000559235" "0" "30" "16" "79632798" "79632798" "subst" "8.1248E-6" "01804" "MAF_000027" "g.79632798G>C" "" "" "" "MAF(NM_001031804.2):c.1002C>G (p.(Ile334Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79598901G>C" "" "likely benign" ""
"0000559236" "0" "10" "16" "79633085" "79633085" "subst" "0" "01943" "MAF_000028" "g.79633085C>T" "" "" "" "MAF(NM_001031804.2):c.715G>A (p.A239T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79599188C>T" "" "benign" ""
"0000559237" "0" "90" "16" "79633086" "79633096" "del" "0" "01943" "MAF_000029" "g.79633086_79633096del" "" "" "" "MAF(NM_001031804.2):c.716_726delCGGCGGGGGCG (p.A239Gfs*140)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79599189_79599199del" "" "pathogenic" ""
"0000559238" "0" "50" "16" "79633559" "79633559" "subst" "0" "02327" "MAF_000030" "g.79633559C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79599662C>T" "" "VUS" ""
"0000616156" "0" "50" "16" "79632904" "79632904" "subst" "0" "01943" "MAF_000031" "g.79632904C>G" "" "" "" "MAF(NM_001031804.2):c.896G>C (p.R299P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79599007C>G" "" "VUS" ""
"0000725982" "0" "50" "16" "79628385" "79628385" "subst" "0" "01943" "MAF_000032" "g.79628385C>T" "" "" "" "MAF(NM_005360.4):c.1184G>A (p.R395H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000725983" "0" "50" "16" "79632694" "79632694" "subst" "0" "02329" "MAF_000015" "g.79632694G>C" "" "" "" "MAF(NM_001031804.3):c.1106C>G (p.P369R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000736867" "1" "50" "16" "79633119" "79633124" "dup" "0" "00000" "MAF_000033" "g.79633119_79633124dup" "1/181 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "" "0" "" "" "g.79599222_79599227dup" "" "VUS" ""
"0000797424" "0" "70" "16" "79632908" "79632908" "subst" "0" "00000" "MAF_000034" "g.79632908T>A" "" "{PMID:Patel 2019:30653986}" "" "c.892A-->T; p.Asn298Tyr" "no Sanger sequencing; heterozygous" "Germline" "?" "" "0" "" "" "g.79599011T>A" "" "likely pathogenic" ""
"0000807608" "0" "30" "16" "79632749" "79632749" "subst" "4.46817E-5" "01943" "MAF_000035" "g.79632749A>G" "" "" "" "MAF(NM_001031804.2):c.1051T>C (p.L351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807609" "0" "90" "16" "79632895" "79632895" "subst" "0" "02327" "MAF_000036" "g.79632895G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000807610" "0" "10" "16" "79633098" "79633098" "subst" "0" "01943" "MAF_000037" "g.79633098T>G" "" "" "" "MAF(NM_001031804.2):c.702A>C (p.G234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000854653" "0" "50" "16" "79633598" "79633598" "del" "0" "02327" "MAF_000038" "g.79633598del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000893183" "0" "50" "16" "79632690" "79632690" "subst" "8.15687E-6" "02325" "MAF_000039" "g.79632690C>G" "" "" "" "MAF(NM_005360.5):c.1110G>C (p.E370D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000914692" "0" "50" "16" "79633613" "79633613" "subst" "0" "02327" "MAF_000040" "g.79633613G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000921889" "0" "90" "16" "79633018" "79633018" "subst" "0" "00006" "MAF_000041" "g.79633018A>G" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.79599121A>G" "" "pathogenic (dominant)" ""
"0000926349" "0" "70" "16" "79632905" "79632905" "subst" "0" "02327" "MAF_000008" "g.79632905G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000954112" "0" "90" "16" "79632850" "79632850" "subst" "0" "00006" "MAF_000042" "g.79632850T>C" "" "{PMID:Li 2018:29914532}" "" "" "" "De novo" "" "" "0" "" "" "g.79598953T>C" "" "pathogenic (dominant)" ""
"0000954821" "0" "70" "16" "79632886" "79632886" "subst" "0" "00006" "MAF_000043" "g.79632886C>T" "" "{PMID:Ma 2016:26694549}" "" "NM_001031804.2:c.915C>T (Cys305Trp)" "parental samples unavailable" "Germline/De novo (untested)" "" "" "0" "" "" "g.79598989C>T" "" "likely pathogenic (dominant)" ""
"0000954824" "0" "70" "16" "79632920" "79632920" "subst" "0" "00006" "MAF_000010" "g.79632920G>A" "" "{PMID:Ma 2016:26694549}" "" "" "parental samples unavailable" "Germline/De novo (untested)" "" "" "0" "" "" "g.79599023G>A" "" "likely pathogenic (dominant)" ""
"0000954837" "0" "70" "16" "79632981" "79632981" "subst" "0" "00006" "MAF_000044" "g.79632981C>G" "" "{PMID:Ma 2016:26694549}" "" "" "parental samples unavailable, not present in sons" "Germline/De novo (untested)" "" "" "0" "" "" "g.79599084C>G" "" "likely pathogenic (dominant)" ""
"0000955021" "21" "70" "16" "79632895" "79632895" "subst" "0" "00006" "MAF_000036" "g.79632895G>A" "" "{PMID:Reichsteiner 2021:34014271}" "" "" "" "Germline" "" "" "0" "" "" "g.79598998G>A" "RCV000533204.3" "likely pathogenic (dominant)" ""
"0000957518" "0" "50" "16" "79632689" "79632689" "subst" "0" "00006" "MAF_000045" "g.79632689A>T" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "" "" "0" "" "" "g.79598792A>T" "" "VUS" ""
"0000957519" "0" "50" "16" "79632689" "79632689" "subst" "0" "00006" "MAF_000045" "g.79632689A>T" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "" "" "0" "" "" "g.79598792A>T" "" "VUS" ""
"0000960236" "20" "70" "16" "79633615" "79633615" "subst" "0" "00006" "MAF_000046" "g.79633615G>A" "" "{PMID:Poli 2024:38177409}" "" "" "" "Germline" "" "" "0" "" "" "g.79599718G>A" "1320073" "likely pathogenic (dominant)" ""
"0000982096" "0" "30" "16" "79628468" "79628468" "subst" "0" "02325" "MAF_000047" "g.79628468G>T" "" "" "" "MAF(NM_005360.5):c.1119-18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000982097" "0" "50" "16" "79633253" "79633253" "subst" "0" "01804" "MAF_000048" "g.79633253G>T" "" "" "" "MAF(NM_005360.5):c.547C>A (p.(His183Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001002599" "0" "30" "16" "79633061" "79633061" "subst" "0" "01804" "MAF_000049" "g.79633061G>A" "" "" "" "MAF(NM_005360.4):c.739C>T (p.(His247Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001002600" "0" "30" "16" "79633070" "79633070" "subst" "0" "01804" "MAF_000050" "g.79633070C>T" "" "" "" "MAF(NM_005360.4):c.730G>A (p.(Gly244Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001002601" "0" "30" "16" "79633231" "79633231" "subst" "0" "01804" "MAF_000051" "g.79633231C>T" "" "" "" "MAF(NM_005360.4):c.569G>A (p.(Gly190Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001002602" "0" "30" "16" "79633397" "79633397" "subst" "0" "01804" "MAF_000052" "g.79633397C>G" "" "" "" "MAF(NM_005360.4):c.403G>C (p.(Ala135Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001015431" "0" "30" "16" "79628501" "79628501" "subst" "0.000247181" "02325" "MAF_000053" "g.79628501G>A" "" "" "" "MAF(NM_005360.5):c.1119-51C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## 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 MAF
## Count = 58
"{{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}}"
"0000096874" "00024190" "90" "863" "0" "863" "0" "c.863G>C" "r.(?)" "p.(Arg288Pro)" ""
"0000096875" "00024190" "90" "890" "0" "890" "0" "c.890A>G" "r.(?)" "p.(Lys297Arg)" ""
"0000096876" "00024190" "70" "895" "0" "895" "0" "c.895C>A" "r.(?)" "p.(Arg299Ser)" ""
"0000096879" "00024190" "70" "958" "0" "958" "0" "c.958A>G" "r.(?)" "p.(Lys320Glu)" ""
"0000096880" "00024190" "90" "908" "0" "908" "0" "c.908A>C" "r.(?)" "p.(Gln303Pro)" ""
"0000096881" "00024190" "90" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Arg294Trp)" ""
"0000096882" "00024190" "90" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Ser54Leu)" ""
"0000096883" "00024190" "90" "172" "0" "172" "0" "c.172A>G" "r.(?)" "p.(Thr58Ala)" ""
"0000096884" "00024190" "90" "206" "0" "206" "0" "c.206C>G" "r.(?)" "p.(Pro69Arg)" ""
"0000096885" "00024190" "90" "173" "0" "173" "0" "c.173C>T" "r.(?)" "p.(Thr58Ile)" ""
"0000096886" "00024190" "90" "176" "0" "176" "0" "c.176C>A" "r.(?)" "p.(Pro59His)" ""
"0000096887" "00024190" "90" "176" "0" "176" "0" "c.176C>T" "r.(?)" "p.(Pro59Leu)" ""
"0000096888" "00024190" "90" "185" "0" "185" "0" "c.185C>G" "r.(?)" "p.(Thr62Arg)" ""
"0000096889" "00024190" "90" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Ser54Leu)" ""
"0000256240" "00024190" "50" "797" "0" "797" "0" "c.797T>G" "r.(?)" "p.(Leu266Arg)" ""
"0000283619" "00024190" "50" "197" "0" "197" "0" "c.197C>G" "r.(?)" "p.(Ser66Trp)" ""
"0000291315" "00024190" "30" "1179" "0" "1179" "0" "c.1179G>A" "r.(?)" "p.(Gln393=)" ""
"0000291316" "00024190" "30" "240" "0" "240" "0" "c.240G>C" "r.(?)" "p.(Ser80=)" ""
"0000291317" "00024190" "30" "285" "0" "285" "0" "c.285C>A" "r.(?)" "p.(Thr95=)" ""
"0000291318" "00024190" "50" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Gly145Ser)" ""
"0000291319" "00024190" "50" "479" "0" "479" "0" "c.479C>T" "r.(?)" "p.(Ala160Val)" ""
"0000291320" "00024190" "50" "5" "0" "5" "0" "c.5C>A" "r.(?)" "p.(Ala2Glu)" ""
"0000340899" "00024190" "30" "600" "0" "600" "0" "c.600C>G" "r.(?)" "p.(Pro200=)" ""
"0000408333" "00024190" "90" "809" "0" "809" "0" "c.809C>A" "r.(?)" "p.(Ser270Tyr)" ""
"0000408335" "00024190" "90" "809" "0" "809" "0" "c.809C>A" "r.(?)" "p.(Ser270Tyr)" ""
"0000559234" "00024190" "30" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Ala387Thr)" ""
"0000559235" "00024190" "30" "1002" "0" "1002" "0" "c.1002C>G" "r.(?)" "p.(Ile334Met)" ""
"0000559236" "00024190" "10" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Ala239Thr)" ""
"0000559237" "00024190" "90" "716" "0" "726" "0" "c.716_726del" "r.(?)" "p.(Ala239GlyfsTer133)" ""
"0000559238" "00024190" "50" "241" "0" "241" "0" "c.241G>A" "r.(?)" "p.(Gly81Ser)" ""
"0000616156" "00024190" "50" "896" "0" "896" "0" "c.896G>C" "r.(?)" "p.(Arg299Pro)" ""
"0000725982" "00024190" "50" "1184" "0" "1184" "0" "c.1184G>A" "r.(?)" "p.(Arg395His)" ""
"0000725983" "00024190" "50" "1106" "0" "1106" "0" "c.1106C>G" "r.(?)" "p.(Pro369Arg)" ""
"0000736867" "00024190" "50" "696" "0" "701" "0" "c.696_701dup" "r.(?)" "p.(Gly237_Gly238dup)" ""
"0000797424" "00024190" "70" "892" "0" "892" "0" "c.892A>T" "r.(?)" "p.(Asn298Tyr)" ""
"0000807608" "00024190" "30" "1051" "0" "1051" "0" "c.1051T>C" "r.(?)" "p.(Leu351=)" ""
"0000807609" "00024190" "90" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Ala302Val)" ""
"0000807610" "00024190" "10" "702" "0" "702" "0" "c.702A>C" "r.(?)" "p.(Gly234=)" ""
"0000854653" "00024190" "50" "206" "0" "206" "0" "c.206del" "r.(?)" "p.(Pro69Leufs*26)" ""
"0000893183" "00024190" "50" "1110" "0" "1110" "0" "c.1110G>C" "r.(?)" "p.(Glu370Asp)" ""
"0000914692" "00024190" "50" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Pro63Ser)" ""
"0000921889" "00024190" "90" "782" "0" "782" "0" "c.782T>C" "r.(?)" "p.(Phe261Ser)" ""
"0000926349" "00024190" "70" "895" "0" "895" "0" "c.895C>A" "r.(?)" "p.(Arg299Ser)" ""
"0000954112" "00024190" "90" "950" "0" "950" "0" "c.950A>G" "r.(?)" "p.(Glu317Gly)" ""
"0000954821" "00024190" "70" "914" "0" "914" "0" "c.914G>A" "r.(?)" "p.(Cys305Trp)" ""
"0000954824" "00024190" "70" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Arg294Trp)" ""
"0000954837" "00024190" "70" "819" "0" "819" "0" "c.819G>C" "r.(?)" "p.(Glu273Asp)" ""
"0000955021" "00024190" "70" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Ala302Val)" ""
"0000957518" "00024190" "50" "1111" "0" "1111" "0" "c.1111T>A" "r.(?)" "p.(Phe371Ile)" "1"
"0000957519" "00024190" "50" "1111" "0" "1111" "0" "c.1111T>A" "r.(?)" "p.(Phe371Ile)" "1"
"0000960236" "00024190" "70" "185" "0" "185" "0" "c.185C>T" "r.(?)" "p.(Thr62Met)" ""
"0000982096" "00024190" "30" "1119" "-18" "1119" "-18" "c.1119-18C>A" "r.(=)" "p.(=)" ""
"0000982097" "00024190" "50" "547" "0" "547" "0" "c.547C>A" "r.(?)" "p.(His183Asn)" ""
"0001002599" "00024190" "30" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(His247Tyr)" ""
"0001002600" "00024190" "30" "730" "0" "730" "0" "c.730G>A" "r.(?)" "p.(Gly244Ser)" ""
"0001002601" "00024190" "30" "569" "0" "569" "0" "c.569G>A" "r.(?)" "p.(Gly190Asp)" ""
"0001002602" "00024190" "30" "403" "0" "403" "0" "c.403G>C" "r.(?)" "p.(Ala135Pro)" ""
"0001015431" "00024190" "30" "1119" "-51" "1119" "-51" "c.1119-51C>T" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 27
"{{screeningid}}" "{{variantid}}"
"0000065212" "0000096874"
"0000065213" "0000096875"
"0000065214" "0000096876"
"0000065215" "0000096879"
"0000065216" "0000096880"
"0000065217" "0000096881"
"0000065218" "0000096882"
"0000065218" "0000096883"
"0000065218" "0000096884"
"0000065218" "0000096885"
"0000065218" "0000096886"
"0000065218" "0000096887"
"0000065218" "0000096888"
"0000065218" "0000096889"
"0000184312" "0000408333"
"0000184314" "0000408335"
"0000337237" "0000736867"
"0000383363" "0000797424"
"0000435716" "0000921889"
"0000445915" "0000954112"
"0000446459" "0000954837"
"0000446479" "0000954821"
"0000446482" "0000954824"
"0000446662" "0000955021"
"0000448101" "0000957518"
"0000448102" "0000957519"
"0000449753" "0000960236"