### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MPLKIP) # 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}}" "MPLKIP" "M-phase specific PLK1 interacting protein" "7" "p14" "unknown" "NG_016989.2" "UD_139401285115" "" "http://www.lovd.nl/MPLKIP" "" "1" "16002" "136647" "609188" "1" "1" "1" "1" "alia c7orf11.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.\r\nAlias TTDN1" "" "g" "http://databases.lovd.nl/shared/refseq/MPLKIP_codingDNA.html" "1" "" "" "-1" "" "-1" "00006" "2015-09-10 00:00:00" "00006" "2017-08-14 16:14:22" "00000" "2024-04-19 20:27:30" ## 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}}" "00024053" "MPLKIP" "M-phase specific PLK1 interacting protein" "001" "NM_138701.3" "" "NP_619646.1" "" "" "" "-85" "856" "540" "40134652" "40132743" "00006" "2015-09-10 10:42:15" "" "" ## 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}}" "00748" "TTD" "trichothiodystrophy (TTD)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-09-10 12:13:45" "01835" "TTD4;TTDN1" "trichothiodystrophy, type 4, nonphotosensitive (TTD-4, TTDN-1)" "AR" "234050" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MPLKIP" "00748" "MPLKIP" "01835" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00080899" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00260764" "" "" "" "1" "" "00006" "{PMID:Nakabayashi 2005:15645389}" "3-generation family, 7 affected 5F, 2M), unaffected heterozygous carrier parents/relatives heterozygous carriers/relatives" "F;M" "" "United States" "" "0" "" "" "Amish" "FamA" "00260765" "" "" "" "1" "" "00006" "{PMID:Nakabayashi 2005:15645389}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier mother/relatives" "F;M" "" "United States" "" "0" "" "" "Amish" "FamB" "00260766" "" "" "" "1" "" "00006" "{PMID:Nakabayashi 2005:15645389}" "2-generation family, 1 affected (M), unaffected parents" "M" "" "United States" "" "0" "" "" "Amish" "FamC" "00260767" "" "" "" "1" "" "00006" "{PMID:Nakabayashi 2005:15645389}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "" "United States" "" "0" "" "" "Amish" "FamD" "00260768" "" "" "" "1" "" "00006" "{PMID:Nakabayashi 2005:15645389}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives" "F;M" "" "United States" "" "0" "" "" "Amish" "FamE" "00260769" "" "" "" "1" "" "00006" "{PMID:Nakabayashi 2005:15645389}" "family, several affected siblings" "" "" "Morocco" "" "0" "" "" "" "FamMor" "00260770" "" "" "" "1" "" "00006" "{PMID:Nakabayashi 2005:15645389}" "" "" "" "Italy" "" "0" "" "" "" "Pat" "00260771" "" "" "" "1" "" "00006" "{PMID:Botta 2007:16977596}" "" "F" "" "Italy" "" "0" "" "" "" "TTD5PV" "00260772" "" "" "" "1" "" "00006" "{PMID:Botta 2007:16977596}" "" "F" "" "Italy" "" "0" "" "" "" "TTD16PV" "00260773" "" "" "" "1" "" "00006" "{PMID:Botta 2007:16977596}" "" "F" "" "Italy" "" "0" "" "" "" "TTD31PV" "00260774" "" "" "" "1" "" "00006" "{PMID:Botta 2007:16977596}" "" "F" "" "Kuwait" "" "0" "" "" "India" "TTD1MA" "00260775" "" "" "" "1" "" "00006" "{PMID:Botta 2007:16977596}" "" "M" "" "Iraq" "" "0" "" "" "" "TTD10RO" "00260776" "" "" "" "1" "" "00006" "{PMID:Botta 2007:16977596}" "" "F" "" "Netherlands" "" "0" "" "" "" "TTD11RO" "00260777" "" "" "" "2" "" "00006" "{PMID:Swagemakers 2014:25606444}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "no" "Netherlands" "" "0" "" "" "" "FamPat" "00311081" "" "" "" "1" "" "02343" "{PMID:Strang-Karlsson 2021: 33729667}, {DOI:Strang-Karlsson 2021:10.1002/ajmg.a.62168}" "Parents are heterozygous carriers" "F" "no" "Finland" "" "0" "" "" "" "" "00311082" "" "" "" "2" "" "02343" "{PMID:Strang-Karlsson 2021: 33729667}, {DOI:Strang-Karlsson 2021:10.1002/ajmg.a.62168}" "" "F" "no" "Finland" "" "0" "" "" "" "" "00311083" "" "" "00311082" "1" "" "02343" "{PMID:Strang-Karlsson 2021: 33729667}, {DOI:Strang-Karlsson 2021:10.1002/ajmg.a.62168}" "" "F" "no" "Finland" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00080899" "01835" "00260764" "00748" "00260765" "00748" "00260766" "00748" "00260767" "00748" "00260768" "00748" "00260769" "00748" "00260770" "00748" "00260771" "00748" "00260772" "00748" "00260773" "00748" "00260774" "00748" "00260775" "00748" "00260776" "00748" "00260777" "00748" "00311081" "01835" "00311082" "01835" "00311083" "01835" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00748, 01835 ## Count = 17 "{{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}}" "0000060468" "01835" "00080899" "01758" "Familial, autosomal recessive" "" "Trichothiodystrophy 4, nonphotosensitive (OMIM:234050)" "" "" "" "" "" "" "" "" "" "0000199296" "00748" "00260764" "00006" "Familial, autosomal recessive" "" "see paper; …, mental retardation, decreased fertility" "" "" "" "" "" "" "" "TTD-4" "nonphotosensitive trichothiodystrophy" "0000199297" "00748" "00260765" "00006" "Familial, autosomal recessive" "" "see paper; …, mental retardation, decreased fertility" "" "" "" "" "" "" "" "TTD-4" "nonphotosensitive trichothiodystrophy" "0000199298" "00748" "00260766" "00006" "Familial, autosomal recessive" "" "see paper; …, mental retardation, decreased fertility" "" "" "" "" "" "" "" "TTD-4" "nonphotosensitive trichothiodystrophy" "0000199299" "00748" "00260767" "00006" "Familial, autosomal recessive" "" "see paper; …, mental retardation, decreased fertility" "" "" "" "" "" "" "" "TTD-4" "nonphotosensitive trichothiodystrophy" "0000199300" "00748" "00260768" "00006" "Familial, autosomal recessive" "" "see paper; …, mental retardation, decreased fertility" "" "" "" "" "" "" "" "TTD-4" "nonphotosensitive trichothiodystrophy" "0000199301" "00748" "00260769" "00006" "Familial, autosomal recessive" "" "see paper; …, mental retardation, decreased fertility" "" "" "" "" "" "" "" "TTD-4" "nonphotosensitive trichothiodystrophy" "0000199302" "00748" "00260770" "00006" "Familial, autosomal recessive" "" "see paper; …, mental retardation, decreased fertility, severe nervous-system impairment" "" "" "" "" "" "" "" "" "" "0000199303" "00748" "00260771" "00006" "Familial, autosomal recessive" "" "see paper; …, moderate severity" "" "8y" "" "" "" "" "" "TTD-4" "nonphotosensitive trichothiodystrophy" "0000199304" "00748" "00260772" "00006" "Familial, autosomal recessive" "" "see paper; …, severe" "" "4y" "" "" "" "" "" "TTD-4" "nonphotosensitive trichothiodystrophy" "0000199305" "00748" "00260773" "00006" "Familial, autosomal recessive" "" "see paper; …, moderate severity" "" "3y" "" "" "" "" "" "TTD-4" "nonphotosensitive trichothiodystrophy" "0000199306" "00748" "00260774" "00006" "Familial, autosomal recessive" "" "see paper; …, severe" "" "6y" "" "" "" "" "" "TTD-4" "nonphotosensitive trichothiodystrophy" "0000199307" "00748" "00260775" "00006" "Familial, autosomal recessive" "" "see paper; …, moderate severity" "" "3y" "" "" "" "" "" "TTD-4" "nonphotosensitive trichothiodystrophy" "0000199308" "00748" "00260776" "00006" "Familial, autosomal recessive" "" "see paper; …, moderate severity" "" "3y" "" "" "" "" "" "TTD-4" "nonphotosensitive trichothiodystrophy" "0000199309" "00748" "00260777" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "TTD-4" "Pollitt syndrome" "0000254657" "01835" "00311083" "02343" "Familial, autosomal recessive" "01y" "" "00y04m" "18y" "" "" "" "" "" "Trichothiodystrophy type 4" "" "0000254658" "01835" "00311082" "02343" "Familial, autosomal recessive" "" "" "01y" "19y" "" "" "" "" "" "Trichothiodystrophy type 4" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081011" "00080899" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000261869" "00260764" "1" "00006" "00006" "2019-08-06 20:38:38" "" "" "SEQ" "DNA" "" "" "0000261870" "00260765" "1" "00006" "00006" "2019-08-06 20:38:38" "" "" "SEQ" "DNA" "" "" "0000261871" "00260766" "1" "00006" "00006" "2019-08-06 20:38:38" "" "" "SEQ" "DNA" "" "" "0000261872" "00260767" "1" "00006" "00006" "2019-08-06 20:38:38" "" "" "SEQ" "DNA" "" "" "0000261873" "00260768" "1" "00006" "00006" "2019-08-06 20:38:38" "" "" "SEQ" "DNA" "" "" "0000261874" "00260769" "1" "00006" "00006" "2019-08-06 20:38:38" "" "" "SEQ" "DNA" "" "" "0000261875" "00260770" "1" "00006" "00006" "2019-08-06 20:38:38" "" "" "SEQ" "DNA" "" "" "0000261876" "00260771" "1" "00006" "00006" "2019-08-06 20:53:35" "" "" "SEQ" "DNA" "" "" "0000261877" "00260772" "1" "00006" "00006" "2019-08-06 20:53:35" "" "" "SEQ" "DNA" "" "" "0000261878" "00260773" "1" "00006" "00006" "2019-08-06 20:53:35" "00006" "2019-08-06 21:06:10" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000261879" "00260774" "1" "00006" "00006" "2019-08-06 20:53:35" "" "" "SEQ" "DNA" "" "" "0000261880" "00260775" "1" "00006" "00006" "2019-08-06 20:53:35" "" "" "SEQ" "DNA" "" "" "0000261881" "00260776" "1" "00006" "00006" "2019-08-06 20:53:35" "" "" "SEQ" "DNA" "" "" "0000261882" "00260777" "1" "00006" "00006" "2019-08-06 21:21:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000312233" "00311081" "1" "02343" "02343" "2020-09-16 10:37:52" "" "" "SEQ-NG-I" "DNA" "Blood" "Clinical WES" "0000312234" "00311082" "1" "02343" "02343" "2020-09-16 11:00:45" "" "" "SEQ-NG-I" "DNA" "Blood" "Clinical WES" "0000312235" "00311083" "1" "02343" "02343" "2020-09-16 11:21:41" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000081011" "MPLKIP" "0000261869" "MPLKIP" "0000261870" "MPLKIP" "0000261871" "MPLKIP" "0000261872" "MPLKIP" "0000261873" "MPLKIP" "0000261874" "MPLKIP" "0000261875" "MPLKIP" "0000261876" "MPLKIP" "0000261877" "MPLKIP" "0000261878" "MPLKIP" "0000261879" "MPLKIP" "0000261880" "MPLKIP" "0000261881" "MPLKIP" "0000261882" "ERCC2" "0000261882" "MPLKIP" ## 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 = 23 "{{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}}" "0000130097" "3" "70" "7" "40174082" "40174082" "subst" "0" "01758" "MPLKIP_000001" "g.40174082C>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.40134483C>A" "" "likely pathogenic" "ACMG" "0000591985" "3" "90" "7" "40172768" "40172768" "subst" "0" "00006" "MPLKIP_000009" "g.40172768T>A" "" "{PMID:Nakabayashi 2005:15645389}" "" "" "" "Germline" "" "" "0" "" "" "g.40133169T>A" "" "pathogenic (recessive)" "" "0000591986" "3" "90" "7" "40172768" "40172768" "subst" "0" "00006" "MPLKIP_000009" "g.40172768T>A" "" "{PMID:Nakabayashi 2005:15645389}" "" "" "" "Germline" "" "" "0" "" "" "g.40133169T>A" "" "pathogenic (recessive)" "" "0000591987" "3" "90" "7" "40172768" "40172768" "subst" "0" "00006" "MPLKIP_000009" "g.40172768T>A" "" "{PMID:Nakabayashi 2005:15645389}" "" "" "" "Germline" "" "" "0" "" "" "g.40133169T>A" "" "pathogenic (recessive)" "" "0000591988" "3" "90" "7" "40172768" "40172768" "subst" "0" "00006" "MPLKIP_000009" "g.40172768T>A" "" "{PMID:Nakabayashi 2005:15645389}" "" "" "" "Germline" "" "" "0" "" "" "g.40133169T>A" "" "pathogenic (recessive)" "" "0000591989" "3" "90" "7" "40172768" "40172768" "subst" "0" "00006" "MPLKIP_000009" "g.40172768T>A" "" "{PMID:Nakabayashi 2005:15645389}" "" "" "" "Germline" "" "" "0" "" "" "g.40133169T>A" "" "pathogenic (recessive)" "" "0000591990" "3" "90" "7" "40174030" "40174031" "del" "0" "00006" "MPLKIP_000003" "g.40174030_40174031del" "" "{PMID:Nakabayashi 2005:15645389}" "" "187_188delGG" "" "Germline" "" "" "0" "" "" "g.40134431_40134432del" "" "pathogenic (recessive)" "" "0000591991" "3" "90" "7" "40165877" "40174281" "del" "0" "00006" "MPLKIP_000008" "g.(40155987_40165877)_(40174281_40174594)del" "" "{PMID:Nakabayashi 2005:15645389}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000591992" "3" "90" "7" "40163342" "40174251" "del" "0" "00006" "MPLKIP_000007" "g.(40143342_40163342)_(40174251_40174351)del" "" "{PMID:Botta 2007:16977596}" "" "del MPLKIP" "deletion <100 5\' of c.-85 to 9-29kb downstream" "Germline" "" "" "0" "" "" "g.(40103743_40123743)_(40134652_40134752)del" "" "pathogenic (recessive)" "" "0000591993" "3" "90" "7" "40174018" "40174022" "del" "0" "00006" "MPLKIP_000005" "g.40174018_40174022del" "" "{PMID:Botta 2007:16977596}" "" "148_152delCACAC" "" "Germline" "" "" "0" "" "" "g.40134419_40134423del" "" "pathogenic (recessive)" "" "0000591994" "11" "90" "7" "40173890" "40173890" "del" "6.52529E-6" "00006" "MPLKIP_000004" "g.40173890del" "" "{PMID:Botta 2007:16977596}" "" "277delT" "" "Germline" "" "" "0" "" "" "g.40134291del" "" "pathogenic (recessive)" "" "0000591995" "3" "90" "7" "40173939" "40173939" "del" "0" "00006" "MPLKIP_000006" "g.40173939del" "" "{PMID:Botta 2007:16977596}" "" "229delC" "" "Germline" "" "" "0" "" "" "g.40134340del" "" "pathogenic (recessive)" "" "0000591996" "3" "90" "7" "40163342" "40174251" "del" "0" "00006" "MPLKIP_000007" "g.(40143342_40163342)_(40174251_40314351)del" "" "{PMID:Botta 2007:16977596}" "" "del 150 kb" "deletion from 140 kb upstream to 9-29kb downstream" "Germline" "" "" "0" "" "" "g.(40103743_40123743)_(40134652_40274752)del" "" "pathogenic (recessive)" "" "0000591997" "3" "90" "7" "40173890" "40173890" "del" "6.52529E-6" "00006" "MPLKIP_000004" "g.40173890del" "" "{PMID:Botta 2007:16977596}" "" "277delT" "" "Germline" "" "" "0" "" "" "g.40134291del" "" "pathogenic (recessive)" "" "0000591998" "21" "90" "7" "40174018" "40174022" "del" "0" "00006" "MPLKIP_000005" "g.40174018_40174022del" "" "{PMID:Botta 2007:16977596}" "" "148_152delCACAC" "" "Germline" "" "" "0" "" "" "g.40134419_40134423del" "" "pathogenic (recessive)" "" "0000591999" "3" "90" "7" "40173890" "40173890" "del" "6.52529E-6" "00006" "MPLKIP_000004" "g.40173890del" "" "{PMID:Swagemakers 2014:25606444}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40134291del" "" "pathogenic (recessive)" "" "0000689998" "0" "70" "7" "40173948" "40173948" "del" "0" "01943" "C7orf10_000008" "g.40173948del" "" "" "" "MPLKIP(NM_138701.3):c.221delC (p.P74Rfs*79)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000693786" "3" "70" "7" "40174145" "40174145" "del" "0" "02343" "MPLKIP_000010" "g.40174145del" "" "{PMID:Strang-Karlsson 2021: 33729667}, {DOI:Strang-Karlsson 2021:10.1002/ajmg.a.62168}{DOI:Strang-Karlsson 2021:10.1002/ajmg.a.62168}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40134546del" "" "pathogenic (recessive)" "ACMG" "0000693787" "3" "70" "7" "40174145" "40174145" "del" "0" "02343" "MPLKIP_000010" "g.40174145del" "" "{PMID:Strang-Karlsson 2021: 33729667}, {DOI:Strang-Karlsson 2021:10.1002/ajmg.a.62168}" "" "" "Heterozygous in parents. Two sisters affected and homozygous." "Germline" "yes" "" "0" "" "" "g.40134546del" "" "pathogenic (recessive)" "ACMG" "0000693788" "3" "70" "7" "40174145" "40174145" "del" "0" "02343" "MPLKIP_000010" "g.40174145del" "" "{PMID:Strang-Karlsson 2021: 33729667}, {DOI:Strang-Karlsson 2021:10.1002/ajmg.a.62168}" "" "" "" "Germline" "yes" "" "0" "" "" "gg.40134546del" "" "pathogenic (recessive)" "ACMG" "0000977695" "0" "50" "7" "40172688" "40172688" "subst" "8.12486E-6" "01804" "MPLKIP_000011" "g.40172688G>C" "" "" "" "MPLKIP(NM_138701.4):c.510C>G (p.(Phe170Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977696" "0" "50" "7" "40172694" "40172694" "subst" "0" "01804" "MPLKIP_000012" "g.40172694T>G" "" "" "" "MPLKIP(NM_138701.4):c.504A>C (p.(Gln168His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977697" "0" "50" "7" "40174104" "40174104" "subst" "1.56928E-5" "01804" "MPLKIP_000013" "g.40174104C>G" "" "" "" "MPLKIP(NM_138701.4):c.63G>C (p.(Trp21Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 MPLKIP ## Count = 23 "{{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}}" "0000130097" "00024053" "70" "85" "0" "85" "0" "c.85G>T" "r.(?)" "p.(Gly29*)" "" "0000591985" "00024053" "90" "430" "0" "430" "0" "c.430A>T" "r.(?)" "p.(Met144Val)" "" "0000591986" "00024053" "90" "430" "0" "430" "0" "c.430A>T" "r.(?)" "p.(Met144Val)" "" "0000591987" "00024053" "90" "430" "0" "430" "0" "c.430A>T" "r.(?)" "p.(Met144Val)" "" "0000591988" "00024053" "90" "430" "0" "430" "0" "c.430A>T" "r.(?)" "p.(Met144Val)" "" "0000591989" "00024053" "90" "430" "0" "430" "0" "c.430A>T" "r.(?)" "p.(Met144Val)" "" "0000591990" "00024053" "90" "137" "0" "138" "0" "c.137_138del" "r.(?)" "p.(Gly46Glufs*13)" "" "0000591991" "00024053" "90" "339" "1" "856" "0" "c.(-85_339+1)_*316del" "r.?" "p.0?" "" "0000591992" "00024053" "90" "-85" "0" "856" "0" "c.-85_*316del" "r.0" "p.0" "_1_2_" "0000591993" "00024053" "90" "148" "0" "152" "0" "c.148_152del" "r.(?)" "p.(His50Alafs*8)" "" "0000591994" "00024053" "90" "277" "0" "277" "0" "c.277del" "r.277del" "p.Ser93Profs*60" "" "0000591995" "00024053" "90" "229" "0" "229" "0" "c.229del" "r.(?)" "p.(Arg77Glyfs*76)" "" "0000591996" "00024053" "90" "-85" "0" "856" "0" "c.-85_*316del" "r.0" "p.0" "_1_2_" "0000591997" "00024053" "90" "277" "0" "277" "0" "c.277del" "r.(?)" "p.(Ser93Profs*60)" "" "0000591998" "00024053" "90" "148" "0" "152" "0" "c.148_152del" "r.148_152del" "p.His50Alafs*8" "" "0000591999" "00024053" "90" "277" "0" "277" "0" "c.277del" "r.(?)" "p.(Ser93Profs*60)" "" "0000689998" "00024053" "70" "221" "0" "221" "0" "c.221del" "r.(?)" "p.(Pro74ArgfsTer79)" "" "0000693786" "00024053" "70" "26" "0" "26" "0" "c.26del" "r.(?)" "p.(Pro9Glnfs*144)" "" "0000693787" "00024053" "70" "26" "0" "26" "0" "c.26del" "r.(?)" "p.(Pro9Glnfs*144)" "" "0000693788" "00024053" "70" "26" "0" "26" "0" "c.26del" "r.(?)" "p.(Pro9Glnfs*144)" "" "0000977695" "00024053" "50" "510" "0" "510" "0" "c.510C>G" "r.(?)" "p.(Phe170Leu)" "" "0000977696" "00024053" "50" "504" "0" "504" "0" "c.504A>C" "r.(?)" "p.(Gln168His)" "" "0000977697" "00024053" "50" "63" "0" "63" "0" "c.63G>C" "r.(?)" "p.(Trp21Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000081011" "0000130097" "0000261869" "0000591985" "0000261870" "0000591986" "0000261871" "0000591987" "0000261872" "0000591988" "0000261873" "0000591989" "0000261874" "0000591990" "0000261875" "0000591991" "0000261876" "0000591992" "0000261877" "0000591993" "0000261878" "0000591994" "0000261878" "0000591998" "0000261879" "0000591995" "0000261880" "0000591996" "0000261881" "0000591997" "0000261882" "0000591999" "0000312233" "0000693786" "0000312234" "0000693787" "0000312235" "0000693788"