### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MIP) # 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}}" "MIP" "major intrinsic protein of lens fiber" "12" "q13" "unknown" "NG_021397.2" "UD_132118948830" "" "https://www.LOVD.nl/MIP" "" "1" "7103" "4284" "154050" "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/MIP_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-08-09 10:58:14" "00006" "2024-01-17 16:50:13" ## 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}}" "00012136" "MIP" "major intrinsic protein of lens fiber" "001" "NM_012064.3" "" "NP_036196.1" "" "" "" "-38" "2570" "792" "56848435" "56843286" "" "0000-00-00 00:00:00" "" "" ## 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" "03878" "CTRCT15" "cataract, type 15, multiple types (CTRCT-15)" "AD" "615274" "" "" "" "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 = 2 "{{geneid}}" "{{diseaseid}}" "MIP" "00296" "MIP" "03878" ## Individuals ## Do not remove or alter this header ## ## Count = 30 "{{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}}" "00060092" "" "" "" "2" "" "00006" "{PMID:Hansen 2009:19182255}" "2-generation family, affected mother/son" "F;M" "" "Denmark" "" "0" "" "" "" "CC00110" "00103132" "" "" "" "1" "" "01954" "" "" "M" "no" "China" "" "0" "" "" "" "" "00260864" "" "" "" "3" "" "00006" "{PMID:Chen 2017:28418495}" "4-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "" "" "" "0" "" "" "" "Fam60090" "00290765" "" "" "" "154" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290766" "" "" "" "83" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304372" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00385487" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "16001640" "00414337" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP4" "00414349" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP16" "00434037" "" "" "" "9" "" "00006" "{PMID:Zhai 2017:28450710}" "4-generation family, 9 affected (5F, 4M)" "F" "" "China" "" "0" "" "" "" "Fam15" "00434117" "" "" "" "4" "" "00006" "{PMID:Cao 2018:30143024}" "" "" "" "Denmark" "" "0" "" "" "" "controls" "00434121" "" "" "" "5" "" "00006" "{PMID:Cao 2018:30143024}" "" "" "" "Denmark" "" "0" "" "" "" "controls" "00434131" "" "" "" "5" "" "00006" "{PMID:Li 2019:31842807}" "4-generation family, 5 affected (5F)" "F" "" "China" "" "0" "" "" "" "Fam3PatIV1" "00434179" "" "" "" "1" "" "00006" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "" "Spain" "" "0" "" "" "" "Fam24" "00434180" "" "" "" "1" "" "00006" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "" "Spain" "" "0" "" "" "" "Fam25" "00434181" "" "" "" "1" "" "00006" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "" "Spain" "" "0" "" "" "" "Fam26" "00434197" "" "" "" "7" "" "00006" "{PMID:Zhang 2018:30078984}" "4-generation family, 7 affected (3F, 4M)" "M" "" "China" "" "0" "" "" "" "WCC16PatIII4" "00434249" "" "" "" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam26351" "00441813" "" "" "" "3" "" "00006" "{PMID:Javadiyan 2017:28839118}" "2-generation family, affected mother/2 sons" "F;M" "" "Australia" "" "0" "" "" "" "CSA131" "00444335" "" "" "" "4" "" "00006" "{PMID:Li 2018:29914532}" "3-generation family, 4 affected (2F, 2M)" "F" "" "China" "" "0" "" "" "" "Fam7PatII2" "00444336" "" "" "" "1" "" "00006" "{PMID:Li 2018:29914532}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "FamPat4" "00444337" "" "" "" "2" "" "00006" "{PMID:Li 2018:29914532}" "2-generation family, affected father/daughter" "F" "" "China" "" "0" "" "" "" "Fam8PatII1" "00444911" "" "" "" "1" "" "00006" "{PMID:Ma 2016:26694549}" "2-generation family, 1 affected, unaffected parents" "M" "" "Australia" "" "0" "" "" "" "Fam28PatII2" "00444915" "" "" "" "2" "" "00006" "{PMID:Ma 2016:26694549}" "2-generation family, affected mother/daughter" "F" "" "Australia" "" "0" "" "" "" "Fam32PatI2" "00444963" "" "" "" "1" "" "00006" "{PMID:Patel 2017:27878435}" "simplex case" "" "" "" "" "0" "" "" "" "12DG2185" "00444996" "" "" "" "1" "" "00006" "{PMID:Reis 2013:23508780}" "family, 3 affected" "" "" "United States" "" "0" "" "" "white" "Pat10" "00445093" "" "" "" "2" "" "00006" "{PMID:Reichsteiner 2021:34014271}" "3-generation family, affected mother/son" "F" "" "Switzerland" "" "0" "" "" "" "Fam12PatII2" "00445094" "" "" "" "1" "" "00006" "{PMID:Reichsteiner 2021:34014271}" "son" "M" "" "Switzerland" "" "0" "" "" "" "Fam12PatIII1" "00446491" "" "" "" "2" "" "00006" "{PMID:Liu 2023:37337769}" "2-generation family, affected mother/son" "M" "" "China" "" "0" "" "" "" "Fam97Pat266" "00446492" "" "" "00446491" "1" "" "00006" "{PMID:Liu 2023:37337769}" "mother" "F" "" "China" "" "0" "" "" "" "Fam97Pat267" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 30 "{{individualid}}" "{{diseaseid}}" "00060092" "00296" "00103132" "00296" "00260864" "00296" "00290765" "00198" "00290766" "00198" "00304372" "00198" "00385487" "04214" "00414337" "00198" "00414349" "00198" "00434037" "00296" "00434117" "00000" "00434121" "00000" "00434131" "00296" "00434179" "00296" "00434180" "00296" "00434181" "00296" "00434197" "00296" "00434249" "00198" "00441813" "00296" "00444335" "00296" "00444336" "00296" "00444337" "00296" "00444911" "00296" "00444915" "00296" "00444963" "00296" "00444996" "00296" "00445093" "00296" "00445094" "00296" "00446491" "00296" "00446492" "00296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00296, 03878, 04214 ## Count = 24 "{{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}}" "0000046582" "00296" "00060092" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CTRCT1" "cataract" "" "0000199396" "00296" "00260864" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CTRCT-15" "congenital cataract" "" "0000279282" "04214" "00385487" "00000" "Familial, autosomal dominant" "" "" "2y" "" "" "" "" "" "" "" "bilateral paediatric cataract" "congenital cataracts" "" "0000306172" "00198" "00414337" "00000" "Familial, autosomal dominant" "26y" "" "" "" "" "" "" "" "" "" "Cataract 15" "" "" "0000306184" "00198" "00414349" "00000" "Familial, autosomal dominant" "27y" "" "" "" "" "" "" "" "" "" "Cataract 15" "" "" "0000324416" "00296" "00434037" "00006" "Familial, autosomal dominant" "1y" "nuclear cataract; nystagmus" "" "" "" "" "" "" "" "" "CTRCT15" "cataract" "" "0000324485" "00296" "00434131" "00006" "Familial, autosomal dominant" "" "see paper; ..., total cataract" "" "" "" "" "" "" "" "" "CTRCT33" "cataract" "" "0000324537" "00296" "00434179" "00006" "Familial, autosomal dominant" "" "nuclear cataract; no microphthalmia; no microcornea; no iris malformations" "" "" "" "" "" "" "" "" "" "cataract" "" "0000324538" "00296" "00434180" "00006" "Familial, autosomal dominant" "" "nuclear cataract; no microphthalmia; no microcornea; no iris malformations" "" "" "" "" "" "" "" "" "" "cataract" "" "0000324539" "00296" "00434181" "00006" "Isolated (sporadic)" "" "nuclear cataract; no microphthalmia; no microcornea; no iris malformations" "" "" "" "" "" "" "" "" "" "cataract" "" "0000324555" "00296" "00434197" "00006" "Familial, autosomal dominant" "28y" "nuclear opacity" "" "" "" "" "" "" "" "" "" "congenital cataract" "" "0000324607" "00198" "00434249" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CTRCT15" "cataract" "" "0000331221" "00296" "00441813" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cataract, white dots" "" "0000333588" "00296" "00444335" "00006" "Familial, autosomal dominant" "" "cataract, nystagmus" "2m" "" "" "" "" "" "" "" "" "cataract" "" "0000333589" "00296" "00444336" "00006" "Isolated (sporadic)" "" "total cataract, nystagmus" "3m" "" "" "" "" "" "" "" "" "cataract" "" "0000333590" "00296" "00444337" "00006" "Familial, autosomal dominant" "" "cataract, nystagmus" "0d" "" "" "" "" "" "" "" "" "cataract" "" "0000334161" "00296" "00444911" "00006" "Isolated (sporadic)" "" "see paper; ..., bilateral dense central nuclear cataract" "" "" "" "" "" "" "" "" "CTCRT15" "cataract" "" "0000334165" "00296" "00444915" "00006" "Familial, autosomal dominant" "" "see paper; ..., bilateral lamellar cataract, pulverulent with blue dot; daughter affected more severely requiring cataract surgery 31y-R), 36y-L" "" "" "" "" "" "" "" "" "CTCRT15" "cataract" "" "0000334213" "00296" "00444963" "00006" "Unknown" "" "pediatric nuclear cataract with microcornea; not syndromic" "" "" "" "" "" "" "" "" "CTRCT15" "cataract" "" "0000334247" "00296" "00444996" "00006" "Familial, autosomal dominant" "" "congenital cataract, strabismus" "" "" "" "" "" "" "" "" "CTRCT15" "cataract" "" "0000334346" "00296" "00445093" "00006" "Isolated (sporadic)" "" "cataract; ventricular septal defect; patent foramen oval; aphakic glaucoma" "" "" "" "" "" "" "" "" "CTRCT15" "cataract" "" "0000334347" "00296" "00445094" "00006" "Familial, autosomal dominant" "" "total cataract; microcornea; non-syndromic; no aphakic glaucoma" "" "" "" "" "" "" "" "" "CTRCT15" "cataract" "" "0000335708" "00296" "00446491" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335709" "00296" "00446492" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" ## Screenings ## Do not remove or alter this header ## ## Count = 30 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000060079" "00060092" "1" "00006" "00006" "2011-11-17 23:11:29" "" "" "SEQ" "DNA" "" "" "0000103586" "00103132" "1" "01954" "01954" "2017-04-05 05:03:56" "" "" "SEQ" "DNA" "" "" "0000261968" "00260864" "1" "00006" "00006" "2019-08-09 10:06:50" "" "" "SEQ" "DNA" "" "" "0000291933" "00290765" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291934" "00290766" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305501" "00304372" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000386716" "00385487" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "114 genes panel tested" "0000415617" "00414337" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415629" "00414349" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000435500" "00434037" "1" "00006" "00006" "2023-03-17 19:03:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435584" "00434117" "1" "00006" "00006" "2023-03-20 13:04:03" "" "" "SEQ" "DNA" "" "" "0000435588" "00434121" "1" "00006" "00006" "2023-03-20 13:04:03" "" "" "SEQ" "DNA" "" "" "0000435598" "00434131" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435647" "00434179" "1" "00006" "00006" "2023-03-21 17:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435648" "00434180" "1" "00006" "00006" "2023-03-21 17:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435649" "00434181" "1" "00006" "00006" "2023-03-21 17:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435665" "00434197" "1" "00006" "00006" "2023-03-21 18:38:38" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435717" "00434249" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "WGS" "0000443299" "00441813" "1" "00006" "00006" "2023-11-13 11:55:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445903" "00444335" "1" "00006" "00006" "2023-12-21 22:12:43" "" "" "SEQ;SEQ-NG" "DNA" "" "80 gene panel" "0000445904" "00444336" "1" "00006" "00006" "2023-12-21 22:12:43" "" "" "SEQ;SEQ-NG" "DNA" "" "80 gene panel" "0000445905" "00444337" "1" "00006" "00006" "2023-12-21 22:12:43" "" "" "SEQ;SEQ-NG" "DNA" "" "80 gene panel" "0000446480" "00444911" "1" "00006" "00006" "2023-12-28 19:27:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000446484" "00444915" "1" "00006" "00006" "2023-12-28 19:27:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000446532" "00444963" "1" "00006" "00006" "2023-12-29 13:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000446565" "00444996" "1" "00006" "00006" "2023-12-29 15:44:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446663" "00445093" "1" "00006" "00006" "2024-01-02 18:58:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446664" "00445094" "1" "00006" "00006" "2024-01-02 18:58:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000448064" "00446491" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448065" "00446492" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000060079" "GJA8" "0000103586" "MIP" "0000261968" "MIP" "0000386716" "MIP" "0000415617" "MIP" "0000415629" "MIP" "0000435584" "MIP" "0000435588" "MIP" ## 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 = 35 "{{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}}" "0000167020" "0" "70" "12" "56848049" "56848049" "subst" "0" "01954" "MIP_000001" "g.56848049C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.56454265C>G" "" "likely pathogenic" "" "0000548710" "0" "50" "12" "56845066" "56845066" "dup" "0" "01943" "MIP_000003" "g.56845066dup" "" "" "" "MIP(NM_012064.4):c.790dupT (p.*264Lfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56451282dup" "" "VUS" "" "0000548711" "0" "90" "12" "56848301" "56848301" "subst" "0" "02327" "MIP_000004" "g.56848301G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56454517G>A" "" "pathogenic" "" "0000592097" "3" "90" "12" "56848331" "56848331" "subst" "0" "00006" "MIP_000005" "g.56848331A>T" "" "{PMID:Chen 2017:28418495}" "" "" "" "Germline" "yes" "" "0" "" "" "g.56454547A>T" "" "pathogenic (recessive)" "" "0000614312" "0" "30" "12" "56845252" "56845252" "subst" "9.83703E-5" "01943" "MIP_000006" "g.56845252G>A" "" "" "" "MIP(NM_012064.4):c.607-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56451468G>A" "" "likely benign" "" "0000648622" "1" "30" "12" "56848079" "56848079" "subst" "0.0246044" "03575" "MIP_000007" "g.56848079C>T" "154/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "154 heterozygous; {DB:CLININrs74641138}" "Germline" "" "rs74641138" "0" "" "" "g.56454295C>T" "" "likely benign" "" "0000648623" "1" "30" "12" "56848407" "56848407" "subst" "0.0172055" "03575" "MIP_000008" "g.56848407G>T" "83/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "83 heterozygous, no homozygous; {DB:CLININrs61759527}" "Germline" "" "rs61759527" "0" "" "" "g.56454623G>T" "" "likely benign" "" "0000669189" "3" "30" "12" "56848079" "56848079" "subst" "0.0246044" "03575" "MIP_000007" "g.56848079C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs74641138}" "Germline" "" "rs74641138" "0" "" "" "g.56454295C>T" "" "likely benign" "" "0000805864" "0" "30" "12" "56847384" "56847384" "subst" "0.000519907" "01943" "MIP_000011" "g.56847384G>A" "" "" "" "MIP(NM_012064.4):c.516C>T (p.H172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000814396" "0" "70" "12" "56846903" "56846903" "subst" "4.06062E-6" "00000" "MIP_000012" "g.56846903G>A" "" "{PMID:Lenassi 2020:31848469}" "" "MIP c.559C>T p.(Arg187Cys) het CRYAA c.410G>C p.(Gly137Ala) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.56453119G>A" "" "likely pathogenic" "ACMG" "0000873443" "0" "70" "12" "56846857" "56846857" "subst" "0" "00000" "MIP_000013" "g.56846857C>T" "104" "{PMID:Sun 2018:30076350}" "" "MIP(NM_012064.3):c.605G>A(p.W202*)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.56453073C>T" "" "likely pathogenic" "" "0000873462" "0" "70" "12" "56847406" "56847406" "subst" "0" "00000" "MIP_000014" "g.56847406C>T" "116" "{PMID:Sun 2018:30076350}" "" "MIP(NM_012064.3):c.494G>A(p.G165D)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.56453622C>T" "" "likely pathogenic" "" "0000890700" "0" "50" "12" "56845153" "56845156" "del" "0" "02329" "MIP_000015" "g.56845153_56845156del" "" "" "" "MIP(NM_012064.4):c.705_708delTGTC (p.V236Sfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000921513" "21" "90" "12" "56845250" "56845250" "subst" "0" "00006" "MIP_000017" "g.56845250C>T" "" "{PMID:Zhai 2017:28450710}" "" "" "" "Germline" "" "" "0" "" "" "g.56451466C>T" "" "pathogenic (dominant)" "" "0000921600" "0" "10" "12" "56848079" "56848079" "subst" "0.0246044" "00006" "MIP_000007" "g.56848079C>T" "1/30 chromosomes cases CTRCT" "{PMID:Hansen 2009:19182255}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000921606" "0" "10" "12" "56848257" "56848257" "subst" "0" "00006" "MIP_000022" "g.56848257T>C" "4/30 chromosomes cases CTRCT" "{PMID:Cao 2018:30143024}" "" "" "" "Germline" "" "" "0" "" "" "g.56454473T>C" "" "benign" "" "0000921610" "0" "10" "12" "56848079" "56848079" "subst" "0.0246044" "00006" "MIP_000007" "g.56848079C>T" "5/76 control chromosomes" "{PMID:Cao 2018:30143024}" "" "" "" "Germline" "" "" "0" "" "" "g.56454295C>T" "" "benign" "" "0000921691" "0" "30" "12" "56848079" "56848079" "subst" "0.0246044" "00006" "MIP_000007" "g.56848079C>T" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs74641138" "0" "" "" "g.56454295C>T" "" "likely benign" "" "0000921808" "11" "90" "12" "56845184" "56845184" "dup" "0" "00006" "MIP_000016" "g.56845184dup" "" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "676dupC" "" "Germline" "" "" "0" "" "" "g.56451400dup" "" "pathogenic (dominant)" "" "0000921809" "21" "70" "12" "56847470" "56847470" "subst" "0" "00006" "MIP_000021" "g.56847470A>G" "" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "" "Germline" "" "" "0" "" "" "g.56453686A>G" "" "likely pathogenic (dominant)" "" "0000921810" "0" "70" "12" "56845250" "56845250" "subst" "0" "00006" "MIP_000018" "g.56845250C>A" "" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "" "De novo" "" "" "0" "" "" "g.56451466C>A" "" "likely pathogenic (dominant)" "" "0000921827" "0" "90" "12" "56847412" "56847412" "dup" "0" "00006" "MIP_000020" "g.56847412dup" "" "{PMID:Zhang 2018:30078984}" "" "489dupC" "" "Germline" "" "" "0" "" "" "g.56453628dup" "" "pathogenic (dominant)" "" "0000921890" "0" "90" "12" "56847381" "56847381" "del" "0" "00006" "MIP_000019" "g.56847381del" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.56453597del" "" "pathogenic (dominant)" "" "0000944704" "21" "70" "12" "56845225" "56845225" "subst" "0" "00006" "MIP_000023" "g.56845225C>A" "" "{PMID:Javadiyan 2017:28839118}" "" "" "" "Germline" "yes" "" "0" "" "" "g.56451441C>A" "" "VUS" "ACMG" "0000954100" "11" "90" "12" "56847406" "56847406" "subst" "0" "00006" "MIP_000014" "g.56847406C>T" "" "{PMID:Li 2018:29914532}" "" "" "" "Germline" "" "" "0" "" "" "g.56453622C>T" "" "pathogenic (dominant)" "" "0000954101" "0" "90" "12" "56846932" "56846932" "subst" "0" "00006" "MIP_000025" "g.56846932T>C" "" "{PMID:Li 2018:29914532}" "" "" "" "De novo" "" "" "0" "" "" "g.56453148T>C" "" "pathogenic (dominant)" "" "0000954102" "11" "90" "12" "56845244" "56845244" "subst" "0" "00006" "MIP_000024" "g.56845244G>C" "" "{PMID:Li 2018:29914532}" "" "" "" "Germline" "" "" "0" "" "" "g.56451460G>C" "" "pathogenic (dominant)" "" "0000954822" "0" "90" "12" "56848301" "56848301" "subst" "0" "00006" "MIP_000004" "g.56848301G>A" "" "{PMID:Ma 2016:26694549}" "" "" "" "De novo" "" "" "0" "" "" "g.56454517G>A" "" "pathogenic (dominant)" "" "0000954826" "21" "90" "12" "56846868" "56846869" "ins" "0" "00006" "MIP_000026" "g.56846868_56846869insGAATGTTCCCAGTG" "" "{PMID:Ma 2016:26694549}" "" "" "" "Germline" "" "" "0" "" "" "g.56453084_56453085insGAATGTTCCCAGTG" "" "pathogenic (dominant)" "" "0000954876" "0" "90" "12" "56846932" "56846932" "subst" "0" "00006" "MIP_000025" "g.56846932T>C" "" "{PMID:Patel 2017:27878435}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.56453148T>C" "" "pathogenic (dominant)" "" "0000954908" "1" "90" "12" "56846857" "56846857" "subst" "0" "00006" "MIP_000013" "g.56846857C>T" "" "{PMID:Reis 2013:23508780}" "" "" "" "Germline" "yes" "" "0" "" "" "g.56453073C>T" "" "pathogenic (dominant)" "" "0000955022" "0" "50" "12" "56848301" "56848301" "subst" "0" "00006" "MIP_000004" "g.56848301G>A" "" "{PMID:Reichsteiner 2021:34014271}" "" "" "" "De novo" "" "" "0" "" "" "g.56454517G>A" "" "VUS" "" "0000955023" "21" "50" "12" "56848301" "56848301" "subst" "0" "00006" "MIP_000004" "g.56848301G>A" "" "{PMID:Reichsteiner 2021:34014271}" "" "" "" "Germline" "" "" "0" "" "" "g.56454517G>A" "" "VUS" "" "0000957444" "21" "50" "12" "56845221" "56845221" "subst" "0" "00006" "MIP_000027" "g.56845221C>T" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "yes" "" "0" "" "" "g.56451437C>T" "" "VUS" "" "0000957445" "0" "50" "12" "56845221" "56845221" "subst" "0" "00006" "MIP_000027" "g.56845221C>T" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "yes" "" "0" "" "" "g.56451437C>T" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MIP ## Count = 35 "{{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}}" "0000167020" "00012136" "70" "349" "0" "349" "0" "c.349G>C" "r.(?)" "p.(Ala117Pro)" "1" "0000548710" "00012136" "50" "790" "0" "790" "0" "c.790dup" "r.(?)" "p.(Ter264LeuextTer6)" "" "0000548711" "00012136" "90" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Arg33Cys)" "" "0000592097" "00012136" "90" "67" "0" "67" "0" "c.67T>A" "r.(?)" "p.(Tyr23Asn)" "" "0000614312" "00012136" "30" "607" "-3" "607" "-3" "c.607-3C>T" "r.spl?" "p.?" "" "0000648622" "00012136" "30" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Val107Ile)" "" "0000648623" "00012136" "30" "-10" "0" "-10" "0" "c.-10C>A" "r.(=)" "p.(=)" "" "0000669189" "00012136" "30" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Val107Ile)" "" "0000805864" "00012136" "30" "516" "0" "516" "0" "c.516C>T" "r.(?)" "p.(His172=)" "" "0000814396" "00012136" "70" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Arg187Cys)" "" "0000873443" "00012136" "70" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Trp202*)" "" "0000873462" "00012136" "70" "494" "0" "494" "0" "c.494G>A" "r.(?)" "p.(Gly165Asp)" "" "0000890700" "00012136" "50" "705" "0" "708" "0" "c.705_708del" "r.(?)" "p.(Val236Serfs*22)" "" "0000921513" "00012136" "90" "607" "-1" "607" "-1" "c.607-1G>A" "r.spl?" "p.?" "" "0000921600" "00012136" "10" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Val107Ile)" "1" "0000921606" "00012136" "10" "141" "0" "141" "0" "c.141A>G" "r.(?)" "p.(Ala47=)" "1" "0000921610" "00012136" "10" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Val107Ile)" "1" "0000921691" "00012136" "30" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Val107Ile)" "" "0000921808" "00012136" "90" "676" "0" "676" "0" "c.676dup" "r.(?)" "p.(Arg226ProfsTer7)" "" "0000921809" "00012136" "70" "430" "0" "430" "0" "c.430T>C" "r.(?)" "p.(Cys144Arg)" "" "0000921810" "00012136" "70" "607" "-1" "607" "-1" "c.607-1G>T" "r.spl" "p.?" "" "0000921827" "00012136" "90" "489" "0" "489" "0" "c.489dup" "r.(?)" "p.(Val164ArgfsTer37)" "" "0000921890" "00012136" "90" "519" "0" "519" "0" "c.519del" "r.(?)" "p.(Phe174LeufsTer10)" "" "0000944704" "00012136" "70" "631" "0" "631" "0" "c.631G>T" "r.(?)" "p.(Gly211Ter)" "" "0000954100" "00012136" "90" "494" "0" "494" "0" "c.494G>A" "r.(?)" "p.(Gly165Asp)" "" "0000954101" "00012136" "90" "530" "0" "530" "0" "c.530A>G" "r.(?)" "p.(Tyr177Cys)" "" "0000954102" "00012136" "90" "612" "0" "612" "0" "c.612C>G" "r.(?)" "p.(Tyr204Ter)" "" "0000954822" "00012136" "90" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Arg33Cys)" "" "0000954826" "00012136" "90" "597" "0" "598" "0" "c.597_598ins GGGAACATTCCACT" "r.(?)" "p.(Asn200GlyfsTer12)" "" "0000954876" "00012136" "90" "530" "0" "530" "0" "c.530A>G" "r.(?)" "p.(Tyr177Cys)" "" "0000954908" "00012136" "90" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Trp202Ter)" "" "0000955022" "00012136" "50" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Arg33Cys)" "" "0000955023" "00012136" "50" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Arg33Cys)" "" "0000957444" "00012136" "50" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Gly212Glu)" "4" "0000957445" "00012136" "50" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Gly212Glu)" "4" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{variantid}}" "0000060079" "0000921600" "0000103586" "0000167020" "0000261968" "0000592097" "0000291933" "0000648622" "0000291934" "0000648623" "0000305501" "0000669189" "0000386716" "0000814396" "0000415617" "0000873443" "0000415629" "0000873462" "0000435500" "0000921513" "0000435584" "0000921606" "0000435588" "0000921610" "0000435598" "0000921691" "0000435647" "0000921808" "0000435648" "0000921809" "0000435649" "0000921810" "0000435665" "0000921827" "0000435717" "0000921890" "0000443299" "0000944704" "0000445903" "0000954100" "0000445904" "0000954101" "0000445905" "0000954102" "0000446480" "0000954822" "0000446484" "0000954826" "0000446532" "0000954876" "0000446565" "0000954908" "0000446663" "0000955022" "0000446664" "0000955023" "0000448064" "0000957444" "0000448065" "0000957445"