### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MTTP) # 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}}" "MTTP" "microsomal triglyceride transfer protein" "4" "q24" "unknown" "NG_011469.1" "UD_132118388165" "" "https://www.LOVD.nl/MTTP" "" "1" "7467" "4547" "157147" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/MTTP_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2018-11-16 12:55:07" "00000" "2025-05-05 21:14:00" ## 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}}" "00014061" "MTTP" "microsomal triglyceride transfer protein" "001" "NM_000253.2" "" "NP_000244.2" "" "" "" "-256" "3834" "2685" "100485240" "100545154" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "01617" "ABL" "abetalipoproteinaemia (ABL)" "AR" "200100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02554" "metabolic syndrome" "metabolic syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-15 15:48:08" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "06611" "AOMS1" "metabolic syndrome, protection against" "AD" "605552" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "MTTP" "01617" "MTTP" "02554" "MTTP" "06611" ## Individuals ## Do not remove or alter this header ## ## Count = 63 "{{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}}" "00000054" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00205860" "" "" "" "1" "" "03105" "{PMID:Di Filippo 2019:30875496}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "France" "" "0" "" "" "" "patient" "00206839" "" "" "" "2" "" "00006" "{PMID:Pons 2011:21394827}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "no" "France" "" "0" "" "" "white" "21394827-FamPatAM" "00206840" "" "" "00206839" "1" "" "00006" "{PMID:Pons 2011:21394827}" "sister" "F" "no" "France" "" "0" "" "" "white" "21394827-FamPatPM" "00206841" "" "" "" "1" "" "00006" "{PMID:Ohashi 2000:10946006}" "" "" "" "" "" "0" "" "" "" "10946006-FamPat" "00206842" "" "" "" "1" "" "00006" "{PMID:Wang 2000:10679949}" "" "" "" "" "" "0" "" "" "" "10679949-FamPat" "00206843" "" "" "" "1" "" "00006" "{PMID:Ricci 1995:7782284}" "" "" "" "" "" "0" "" "" "" "7782284-FamPat" "00206844" "" "" "" "1" "" "00006" "{PMID:Rubin 2006:16721486}" "" "" "" "" "" "0" "" "" "" "16721486-FamPat" "00206845" "" "" "" "1" "" "00006" "{PMID:Sakamoto 2006:16143868}" "" "" "" "" "" "0" "" "" "" "16143868-FamPat" "00206846" "" "" "" "1" "" "00006" "{PMID:Benayoun 2007:17275380}" "" "" "" "" "" "0" "" "" "" "17275380-FamPat" "00206847" "" "" "" "1" "" "00006" "{PMID:Wang 2000:10679949}" "" "" "" "" "" "0" "" "" "" "10679949-FamPat" "00206848" "" "" "" "1" "" "00006" "{PMID:Sani 2011:21502686}" "" "" "" "" "" "0" "" "" "" "21502686-FamPat" "00206849" "" "" "" "1" "" "00006" "{PMID:Rehberg 1996:8939939}" "" "" "" "" "" "0" "" "" "" "8939939-FamPat" "00206850" "" "" "" "1" "" "00006" "{PMID:Wang 2000:10679949}" "" "" "" "" "" "0" "" "" "" "10679949-FamPat" "00206851" "" "" "" "1" "" "00006" "{PMID:Di Leo 2005:15910857}" "" "" "" "" "" "0" "" "" "" "15910857-FamPat" "00206852" "" "" "" "1" "" "00006" "{PMID:Wang 2000:10679949}" "" "" "" "" "" "0" "" "" "" "10679949-FamPat" "00206853" "" "" "" "1" "" "00006" "{PMID:Di Leo 2005:15910857}" "" "" "" "" "" "0" "" "" "" "15910857-FamPat" "00206854" "" "" "" "1" "" "00006" "{PMID:Sharp 1993:8361539}" "" "" "" "" "" "0" "" "" "" "8361539-FamPat" "00206855" "" "" "" "1" "" "00006" "{PMID:Zeissig 2010:20592474}" "" "" "" "" "" "0" "" "" "" "20592474-FamPat" "00206856" "" "" "" "1" "" "00006" "{PMID:Chardon 2009:19066957}" "" "" "" "" "" "0" "" "" "" "19066957-FamPat" "00206857" "" "" "" "1" "" "00006" "{PMID:Najah 2009:19056372}" "" "" "" "" "" "0" "" "" "" "19056372-FamPat" "00206858" "" "" "" "1" "" "00006" "{PMID:Karpe 1998:9598834}" "" "" "" "" "" "0" "" "" "" "9598834-FamPat" "00206859" "" "" "" "1" "" "00006" "{PMID:Rubin 2008:17854051}" "" "" "" "" "" "0" "" "" "" "17854051-FamPat" "00206860" "" "" "" "1" "" "00006" "{PMID:Sakamoto 2006:16143868}" "" "" "" "" "" "0" "" "" "" "16143868-FamPat" "00206861" "" "" "" "1" "" "00006" "{PMID:Al-Mahdili 2006:17132287}" "" "" "" "" "" "0" "" "" "" "17132287-FamPat" "00206862" "" "" "" "1" "" "00006" "{PMID:Benayoun 2007:17275380}" "" "" "" "" "" "0" "" "" "" "17275380-FamPat" "00206863" "" "" "" "1" "" "00006" "{PMID:Wang 2000:10679949}" "" "" "" "" "" "0" "" "" "" "10679949-FamPat" "00206864" "" "" "" "1" "" "00006" "{PMID:Narcisi 1995:8533758}" "" "" "" "" "" "0" "" "" "" "8533758-FamPat" "00206865" "" "" "" "1" "" "00006" "{PMID:Shoulders 1993:8111381}" "" "" "" "" "" "0" "" "" "" "8111381-FamPat" "00206866" "" "" "" "1" "" "00006" "{PMID:Narcisi 1995:8533758}" "" "" "" "" "" "0" "" "" "" "8533758-FamPat" "00206867" "" "" "" "1" "" "00006" "{PMID:Ohashi 2000:10946006}" "" "" "" "" "" "0" "" "" "" "10946006-FamPat" "00206868" "" "" "" "1" "" "00006" "{PMID:Zeissig 2010:20592474}" "" "" "" "" "" "0" "" "" "" "20592474-FamPat" "00206869" "" "" "" "1" "" "00006" "{PMID:Pons 2011:21394827}" "" "" "" "" "" "0" "" "" "" "21394827-FamPat" "00206870" "" "" "" "1" "" "00006" "{PMID:Najah 2009:19056372}" "" "" "" "" "" "0" "" "" "" "19056372-FamPat" "00206871" "" "" "" "1" "" "00006" "{PMID:Pons 2011:21394827}" "" "" "" "" "" "0" "" "" "" "21394827-FamPat" "00206872" "" "" "" "1" "" "00006" "{PMID:Yang 1999:10446076}" "" "" "" "" "" "0" "" "" "" "10446076-FamPat" "00206873" "" "" "" "1" "" "00006" "{PMID:Di Leo 2005:15910857}" "" "" "" "" "" "0" "" "" "" "15910857-FamPat" "00206874" "" "" "" "1" "" "00006" "{PMID:Narcisi 1995:8533758}" "" "" "" "" "" "0" "" "" "" "8533758-FamPat" "00206875" "" "" "" "1" "" "00006" "{PMID:Wang 2000:10679949}" "" "" "" "" "" "0" "" "" "" "10679949-FamPat" "00206876" "" "" "" "1" "" "00006" "{PMID:Ohashi 2000:10946006}" "" "" "" "" "" "0" "" "" "" "10946006-FamPat" "00206877" "" "" "" "1" "" "00006" "{PMID:Tarugi 2007:17570373}" "" "" "" "" "" "0" "" "" "" "17570373-FamPat" "00206878" "" "" "" "1" "" "00006" "{PMID:Narcisi 1995:8533758}" "" "" "" "" "" "0" "" "" "" "8533758-FamPat" "00206879" "" "" "" "1" "" "00006" "{PMID:Chardon 2009:19066957}" "" "" "" "" "" "0" "" "" "" "19066957-FamPat" "00206880" "" "" "" "1" "" "00006" "{PMID:Sharp 1993:8361539}" "" "" "" "" "" "0" "" "" "" "8361539-FamPat" "00206881" "" "" "" "1" "" "00006" "{PMID:Narcisi 1995:8533758}" "" "" "" "" "" "0" "" "" "" "8533758-FamPat" "00206882" "" "" "" "1" "" "00006" "{PMID:Narcisi 1995:8533758}" "" "" "" "" "" "0" "" "" "" "8533758-FamPat" "00206883" "" "" "" "1" "" "00006" "{PMID:Heath 1997:9467817}" "" "" "" "" "" "0" "" "" "" "9467817-FamPat" "00206884" "" "" "" "1" "" "00006" "{PMID:Di Filippo 2014:24842304}, {DOI:Di Filippo 2014:10.1016/j.jhep.2014.05.023}" "patients from unrelated families" "" "" "France" "" "0" "" "" "" "24842304-FamPatA1" "00206885" "" "" "" "1" "" "00006" "{PMID:Di Filippo 2014:24842304}, {DOI:Di Filippo 2014:10.1016/j.jhep.2014.05.023}" "patients from unrelated families" "" "" "France" "" "0" "" "" "" "24842304-FamPatA2" "00206886" "" "" "" "1" "" "00006" "{PMID:Di Filippo 2014:24842304}, {DOI:Di Filippo 2014:10.1016/j.jhep.2014.05.023}" "patients from unrelated families" "" "" "France" "" "0" "" "" "" "24842304-FamPatA4" "00206887" "" "" "" "1" "" "00006" "{PMID:Di Filippo 2014:24842304}, {DOI:Di Filippo 2014:10.1016/j.jhep.2014.05.023}" "patients from unrelated families" "" "" "France" "" "0" "" "" "" "24842304-FamPatA5" "00206888" "" "" "" "1" "" "00006" "{PMID:Di Filippo 2014:24842304}, {DOI:Di Filippo 2014:10.1016/j.jhep.2014.05.023}" "patients from unrelated families" "" "yes" "France" "" "0" "" "" "" "24842304-FamPatA6" "00206889" "" "" "" "1" "" "00006" "{PMID:Di Filippo 2014:24842304}, {DOI:Di Filippo 2014:10.1016/j.jhep.2014.05.023}" "patients from unrelated families" "" "" "France" "" "0" "" "" "" "24842304-FamPatA7" "00206890" "" "" "" "1" "" "00006" "{PMID:Di Filippo 2014:24842304}, {DOI:Di Filippo 2014:10.1016/j.jhep.2014.05.023}" "patients from unrelated families" "" "" "France" "" "0" "" "" "" "24842304-FamPatA3" "00293497" "" "" "" "59" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293498" "" "" "" "143" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293499" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304965" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304966" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374406" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-329" "00375435" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#030" "00386900" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI623_001282" "00426983" "" "" "" "1" "" "00006" "{PMID:Reiner 2022:36459106}" "carrier screening 73,755 controls" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 63 "{{individualid}}" "{{diseaseid}}" "00000054" "01617" "00205860" "01617" "00206839" "01617" "00206840" "01617" "00206841" "01617" "00206842" "01617" "00206843" "01617" "00206844" "00198" "00206845" "01617" "00206846" "01617" "00206847" "01617" "00206848" "01617" "00206849" "01617" "00206850" "01617" "00206851" "00198" "00206852" "01617" "00206853" "00198" "00206854" "01617" "00206855" "01617" "00206856" "01617" "00206857" "01617" "00206858" "00198" "00206859" "00198" "00206860" "01617" "00206861" "01617" "00206862" "01617" "00206863" "01617" "00206864" "01617" "00206865" "01617" "00206866" "01617" "00206867" "01617" "00206868" "01617" "00206869" "01617" "00206870" "01617" "00206871" "01617" "00206872" "01617" "00206873" "01617" "00206874" "01617" "00206875" "01617" "00206876" "01617" "00206877" "01617" "00206878" "01617" "00206879" "01617" "00206880" "01617" "00206881" "01617" "00206882" "01617" "00206883" "01617" "00206884" "01617" "00206885" "01617" "00206886" "01617" "00206887" "01617" "00206888" "01617" "00206889" "01617" "00206890" "01617" "00293497" "00198" "00293498" "00198" "00293499" "00198" "00304965" "00198" "00304966" "00198" "00374406" "00198" "00375435" "04214" "00386900" "04214" "00426983" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01617, 02554, 04214, 06611 ## Count = 57 "{{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}}" "0000154006" "01617" "00205860" "03105" "Familial, autosomal recessive" "07y" "see paper; ..., diarrhea, failure to thrive" "" "" "" "" "" "" "" "" "abetalipoproteinaemia" "ABL" "" "0000154628" "01617" "00206839" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "00y13m" "" "" "" "" "" "" "" "abetalipoproteinaemia" "" "0000154629" "01617" "00206840" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "06y" "" "" "" "" "" "" "" "abetalipoproteinaemia" "" "0000154630" "01617" "00206841" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154631" "01617" "00206842" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154632" "01617" "00206843" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154633" "00198" "00206844" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "diabetes, type 2" "" "0000154634" "01617" "00206845" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154635" "01617" "00206846" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154636" "01617" "00206847" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154637" "01617" "00206848" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154638" "01617" "00206849" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154639" "01617" "00206850" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154640" "00198" "00206851" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "microsomal triglyceride transfer protein deficiency" "" "0000154641" "01617" "00206852" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154642" "00198" "00206853" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "microsomal triglyceride transfer protein deficiency" "" "0000154643" "01617" "00206854" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154644" "01617" "00206855" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "abetalipoproteinaemia ?" "" "0000154645" "01617" "00206856" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154646" "01617" "00206857" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154647" "00198" "00206858" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "lower plasma LDL cholestero" "" "0000154648" "00198" "00206859" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "reduced transcriptional activity" "" "0000154649" "01617" "00206860" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154650" "01617" "00206861" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154651" "01617" "00206862" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154652" "01617" "00206863" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154653" "01617" "00206864" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154654" "01617" "00206865" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154655" "01617" "00206866" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154656" "01617" "00206867" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154657" "01617" "00206868" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "abetalipoproteinaemia ?" "" "0000154658" "01617" "00206869" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154659" "01617" "00206870" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154660" "01617" "00206871" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154661" "01617" "00206872" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154662" "01617" "00206873" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154663" "01617" "00206874" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154664" "01617" "00206875" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154665" "01617" "00206876" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154666" "01617" "00206877" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154667" "01617" "00206878" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154668" "01617" "00206879" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154669" "01617" "00206880" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154670" "01617" "00206881" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154671" "01617" "00206882" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154672" "01617" "00206883" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154673" "01617" "00000054" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154674" "01617" "00206884" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154675" "01617" "00206885" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154676" "01617" "00206886" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154677" "01617" "00206887" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154678" "01617" "00206888" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154679" "01617" "00206889" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000154680" "01617" "00206890" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000269616" "00198" "00374406" "00006" "Familial, autosomal recessive" "" "Retinitis pigmentosa, progressive cerebellar and sensory ataxia, tremors and malabsorption with recurrent diarrhea. Peripheral smear showed acanthocytes." "" "" "" "" "" "" "" "" "" "ataxia" "" "0000270649" "04214" "00375435" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000280700" "04214" "00386900" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 63 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000206890" "00205860" "1" "03105" "03105" "2018-11-12 10:36:19" "00006" "2025-01-27 10:12:28" "PCRlr;PCRq;RT-PCR;SEQ" "DNA;RNA" "" "" "0000207872" "00206839" "1" "00006" "00006" "2011-07-12 15:00:02" "00006" "2018-11-16 13:24:29" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000207873" "00206840" "1" "00006" "00006" "2011-07-12 15:00:02" "00006" "2018-11-16 13:24:51" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000207874" "00206841" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207875" "00206842" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207876" "00206843" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207877" "00206844" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207878" "00206845" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207879" "00206846" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207880" "00206847" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207881" "00206848" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207882" "00206849" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207883" "00206850" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207884" "00206851" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207885" "00206852" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207886" "00206853" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207887" "00206854" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207888" "00206855" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207889" "00206856" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207890" "00206857" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207891" "00206858" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207892" "00206859" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207893" "00206860" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207894" "00206861" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207895" "00206862" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207896" "00206863" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207897" "00206864" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207898" "00206865" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207899" "00206866" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207900" "00206867" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207901" "00206868" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207902" "00206869" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207903" "00206870" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207904" "00206871" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207905" "00206872" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207906" "00206873" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207907" "00206874" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207908" "00206875" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207909" "00206876" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207910" "00206877" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207911" "00206878" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207912" "00206879" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207913" "00206880" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207914" "00206881" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207915" "00206882" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207916" "00206883" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207917" "00000054" "1" "00006" "00006" "2018-11-16 14:11:37" "" "" "SEQ" "DNA" "" "" "0000207918" "00206884" "1" "00006" "00006" "2018-11-16 14:29:43" "" "" "SEQ" "DNA" "" "" "0000207919" "00206885" "1" "00006" "00006" "2018-11-16 14:29:43" "" "" "SEQ" "DNA" "" "" "0000207920" "00206886" "1" "00006" "00006" "2018-11-16 14:29:43" "" "" "SEQ" "DNA" "" "" "0000207921" "00206887" "1" "00006" "00006" "2018-11-16 14:29:43" "" "" "SEQ" "DNA" "" "" "0000207922" "00206888" "1" "00006" "00006" "2018-11-16 14:29:43" "" "" "SEQ" "DNA" "" "" "0000207923" "00206889" "1" "00006" "00006" "2018-11-16 14:29:43" "" "" "SEQ" "DNA" "" "" "0000207924" "00206890" "1" "00006" "00006" "2018-11-16 14:29:43" "" "" "SEQ" "DNA" "" "" "0000294665" "00293497" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294666" "00293498" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294667" "00293499" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306094" "00304965" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306095" "00304966" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375600" "00374406" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376632" "00375435" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000388128" "00386900" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000428303" "00426983" "1" "00006" "00006" "2022-12-04 11:25:02" "" "" "SEQ;SEQ-NG" "DNA" "" "custom gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 56 "{{screeningid}}" "{{geneid}}" "0000206890" "MTTP" "0000207872" "MTTP" "0000207873" "MTTP" "0000207874" "MTTP" "0000207875" "MTTP" "0000207876" "MTTP" "0000207877" "MTTP" "0000207878" "MTTP" "0000207879" "MTTP" "0000207880" "MTTP" "0000207881" "MTTP" "0000207882" "MTTP" "0000207883" "MTTP" "0000207884" "MTTP" "0000207885" "MTTP" "0000207886" "MTTP" "0000207887" "MTTP" "0000207888" "MTTP" "0000207889" "MTTP" "0000207890" "MTTP" "0000207891" "MTTP" "0000207892" "MTTP" "0000207893" "MTTP" "0000207894" "MTTP" "0000207895" "MTTP" "0000207896" "MTTP" "0000207897" "MTTP" "0000207898" "MTTP" "0000207899" "MTTP" "0000207900" "MTTP" "0000207901" "MTTP" "0000207902" "MTTP" "0000207903" "MTTP" "0000207904" "MTTP" "0000207905" "MTTP" "0000207906" "MTTP" "0000207907" "MTTP" "0000207908" "MTTP" "0000207909" "MTTP" "0000207910" "MTTP" "0000207911" "MTTP" "0000207912" "MTTP" "0000207913" "MTTP" "0000207914" "MTTP" "0000207915" "MTTP" "0000207916" "MTTP" "0000207917" "MTTP" "0000207918" "MTTP" "0000207919" "MTTP" "0000207920" "MTTP" "0000207921" "MTTP" "0000207922" "MTTP" "0000207923" "MTTP" "0000207924" "MTTP" "0000375600" "MTTP" "0000388128" "MTTP" ## 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 = 436 "{{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}}" "0000246219" "0" "30" "4" "100512442" "100512442" "subst" "0.000581258" "02330" "MTTP_000019" "g.100512442A>T" "" "" "" "MTTP(NM_000253.3):c.552A>T (p.K184N), MTTP(NM_000253.4):c.552A>T (p.K184N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99591285A>T" "" "likely benign" "" "0000246228" "0" "10" "4" "100521805" "100521805" "subst" "0.0432354" "02330" "MTTP_000028" "g.100521805A>C" "" "" "" "MTTP(NM_000253.4):c.1151A>C (p.D384A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99600648A>C" "" "benign" "" "0000246231" "0" "10" "4" "100518337" "100518337" "subst" "0.000142357" "02330" "MTTP_000059" "g.100518337A>G" "" "" "" "MTTP(NM_000253.3):c.1023A>G (p.K341=), MTTP(NM_000253.4):c.1023A>G (p.K341=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99597180A>G" "" "benign" "" "0000246232" "0" "10" "4" "100530072" "100530072" "subst" "0" "02330" "MTTP_000031" "g.100530072A>G" "" "" "" "MTTP(NM_000253.4):c.1707A>G (p.Q569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99608915A>G" "" "benign" "" "0000246253" "0" "10" "4" "100543956" "100543956" "subst" "0.00231886" "02330" "MTTP_000063" "g.100543956A>G" "" "" "" "MTTP(NM_000253.4):c.2636A>G (p.K879R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99622799A>G" "" "benign" "" "0000246254" "0" "10" "4" "100510903" "100510903" "subst" "0.0572635" "02330" "MTTP_000017" "g.100510903A>G" "" "" "" "MTTP(NM_000253.4):c.497A>G (p.N166S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99589746A>G" "" "benign" "" "0000246266" "0" "30" "4" "100542323" "100542323" "subst" "1.62533E-5" "02330" "MTTP_000062" "g.100542323A>G" "" "" "" "MTTP(NM_000253.3):c.2448A>G (p.T816=), MTTP(NM_000253.4):c.2448A>G (p.T816=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99621166A>G" "" "likely benign" "" "0000246275" "0" "30" "4" "100510825" "100510825" "subst" "0.000430856" "02330" "MTTP_000015" "g.100510825A>G" "" "" "" "MTTP(NM_000253.4):c.419A>G (p.N140S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99589668A>G" "" "likely benign" "" "0000246277" "0" "30" "4" "100543836" "100543836" "subst" "7.31737E-5" "02330" "MTTP_000046" "g.100543836A>T" "" "" "" "MTTP(NM_000253.4):c.2516A>T (p.Q839L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99622679A>T" "" "likely benign" "" "0000246278" "0" "70" "4" "100534131" "100534131" "subst" "0" "02330" "MTTP_000061" "g.100534131A>G" "" "" "" "MTTP(NM_000253.4):c.2051A>G (p.E684G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99612974A>G" "" "likely pathogenic" "" "0000246280" "0" "90" "4" "100503088" "100503088" "subst" "0" "02330" "MTTP_000049" "g.100503088A>T" "" "" "" "MTTP(NM_000253.4):c.88A>T (p.N30Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99581931A>T" "" "pathogenic" "" "0000246281" "0" "90" "4" "100504677" "100504677" "subst" "0" "02330" "MTTP_000013" "g.100504677A>T" "" "" "" "MTTP(NM_000253.4):c.393+3A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99583520A>T" "" "pathogenic" "" "0000246282" "0" "90" "4" "100540129" "100540129" "subst" "0" "02330" "MTTP_000041" "g.100540129A>G" "" "" "" "MTTP(NM_000253.4):c.2218-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99618972A>G" "" "pathogenic" "" "0000246285" "0" "50" "4" "100522815" "100522815" "subst" "8.13524E-6" "02330" "MTTP_000029" "g.100522815A>G" "" "" "" "MTTP(NM_000253.4):c.1288A>G (p.I430V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99601658A>G" "" "VUS" "" "0000246286" "0" "50" "4" "100527948" "100527948" "subst" "8.1367E-6" "02330" "MTTP_000060" "g.100527948A>C" "" "" "" "MTTP(NM_000253.4):c.1388A>C (p.K463T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99606791A>C" "" "VUS" "" "0000248394" "0" "10" "4" "100521805" "100521805" "subst" "0.0432354" "02325" "MTTP_000028" "g.100521805A>C" "" "" "" "MTTP(NM_000253.4):c.1151A>C (p.D384A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99600648A>C" "" "benign" "" "0000254180" "0" "30" "4" "100512442" "100512442" "subst" "0.000581258" "01943" "MTTP_000019" "g.100512442A>T" "" "" "" "MTTP(NM_000253.3):c.552A>T (p.K184N), MTTP(NM_000253.4):c.552A>T (p.K184N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99591285A>T" "" "likely benign" "" "0000280105" "0" "10" "4" "100485244" "100485244" "subst" "0.155642" "02330" "MTTP_000065" "g.100485244G>C" "" "" "" "MTTP(NM_000253.4):c.-252G>C, TRMT10A(NM_152292.5):c.-732C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99564087G>C" "" "benign" "" "0000280106" "0" "70" "4" "100518330" "100518330" "subst" "0.000142395" "02330" "MTTP_000027" "g.100518330C>A" "" "" "" "MTTP(NM_000253.3):c.1016C>A (p.A339E), MTTP(NM_000253.4):c.1016C>A (p.A339E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99597173C>A" "" "likely pathogenic" "" "0000280107" "0" "30" "4" "100503130" "100503130" "subst" "3.24881E-5" "02330" "MTTP_000009" "g.100503130C>G" "" "" "" "MTTP(NM_000253.3):c.130C>G (p.L44V), MTTP(NM_000253.4):c.130C>G (p.L44V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99581973C>G" "" "likely benign" "" "0000280108" "0" "10" "4" "100503136" "100503136" "subst" "0.0188559" "02330" "MTTP_000051" "g.100503136C>G" "" "" "" "MTTP(NM_000253.4):c.136C>G (p.R46G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99581979C>G" "" "benign" "" "0000280109" "0" "90" "4" "100503154" "100503154" "subst" "0" "02330" "MTTP_000010" "g.100503154C>T" "" "" "" "MTTP(NM_000253.4):c.154C>T (p.Q52*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99581997C>T" "" "pathogenic" "" "0000280110" "0" "30" "4" "100528124" "100528124" "subst" "0.0036949" "02330" "MTTP_000030" "g.100528124T>A" "" "" "" "MTTP(NM_000253.4):c.1557+7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99606967T>A" "" "likely benign" "" "0000280111" "0" "10" "4" "100530148" "100530148" "subst" "0.0311958" "02330" "MTTP_000033" "g.100530148C>T" "" "" "" "MTTP(NM_000253.3):c.1769+14C>T, MTTP(NM_000253.4):c.1769+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99608991C>T" "" "benign" "" "0000280112" "0" "10" "4" "100530143" "100530143" "subst" "0.043292" "02330" "MTTP_000032" "g.100530143C>T" "" "" "" "MTTP(NM_000253.4):c.1769+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99608986C>T" "" "benign" "" "0000280113" "0" "70" "4" "100532314" "100532314" "subst" "1.21857E-5" "02330" "MTTP_000034" "g.100532314G>C" "" "" "" "MTTP(NM_000253.4):c.1784G>C (p.R595P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99611157G>C" "" "likely pathogenic" "" "0000280114" "0" "30" "4" "100532373" "100532375" "del" "0" "02330" "MTTP_000035" "g.100532373_100532375del" "" "" "" "MTTP(NM_000253.4):c.1843_1845delTCT (p.S615del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99611216_99611218del" "" "likely benign" "" "0000280115" "0" "70" "4" "100532397" "100532397" "subst" "2.84347E-5" "02330" "MTTP_000036" "g.100532397C>T" "" "" "" "MTTP(NM_000253.4):c.1867C>T (p.R623C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99611240C>T" "" "likely pathogenic" "" "0000280116" "0" "30" "4" "100532471" "100532471" "subst" "4.06369E-6" "02330" "MTTP_000037" "g.100532471G>A" "" "" "" "MTTP(NM_000253.4):c.1868-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99611314G>A" "" "likely benign" "" "0000280117" "0" "10" "4" "100532602" "100532602" "subst" "0.0268919" "02330" "MTTP_000038" "g.100532602G>A" "" "" "" "MTTP(NM_000253.3):c.1981G>A (p.G661S), MTTP(NM_000253.4):c.1981G>A (p.G661S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99611445G>A" "" "benign" "" "0000280118" "0" "30" "4" "100534123" "100534123" "subst" "0.00102851" "02330" "MTTP_000039" "g.100534123G>A" "" "" "" "MTTP(NM_000253.4):c.2043G>A (p.E681=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99612966G>A" "" "likely benign" "" "0000280119" "0" "70" "4" "100534292" "100534292" "del" "0" "02330" "MTTP_000040" "g.100534292del" "" "" "" "MTTP(NM_000253.4):c.2212delT (p.S738Lfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99613135del" "" "likely pathogenic" "" "0000280120" "0" "30" "4" "100540226" "100540226" "subst" "0" "02330" "MTTP_000042" "g.100540226T>C" "" "" "" "MTTP(NM_000253.4):c.2313T>C (p.Y771=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99619069T>C" "" "likely benign" "" "0000280121" "0" "10" "4" "100542308" "100542308" "subst" "0.00156052" "02330" "MTTP_000043" "g.100542308G>C" "" "" "" "MTTP(NM_000253.3):c.2433G>C (p.L811F), MTTP(NM_000253.4):c.2433G>C (p.L811F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99621151G>C" "" "benign" "" "0000280122" "0" "10" "4" "100542401" "100542401" "subst" "0.00140235" "02330" "MTTP_000045" "g.100542401G>A" "" "" "" "MTTP(NM_000253.4):c.2513+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99621244G>A" "" "benign" "" "0000280123" "0" "30" "4" "100543977" "100543977" "subst" "0.00034925" "02330" "MTTP_000047" "g.100543977C>T" "" "" "" "MTTP(NM_000253.3):c.2657C>T (p.P886L), MTTP(NM_000253.4):c.2657C>T (p.P886L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99622820C>T" "" "likely benign" "" "0000280124" "0" "50" "4" "100543994" "100543994" "subst" "4.06131E-6" "02330" "MTTP_000048" "g.100543994G>A" "" "" "" "MTTP(NM_000253.4):c.2674G>A (p.G892R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99622837G>A" "" "VUS" "" "0000280125" "0" "10" "4" "100504566" "100504566" "subst" "0.0401032" "02330" "MTTP_000052" "g.100504566G>C" "" "" "" "MTTP(NM_000253.4):c.285G>C (p.Q95H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99583409G>C" "" "benign" "" "0000280126" "0" "10" "4" "100504575" "100504575" "subst" "0.0582748" "02330" "MTTP_000011" "g.100504575G>C" "" "" "" "MTTP(NM_000253.4):c.294G>C (p.E98D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99583418G>C" "" "benign" "" "0000280127" "0" "30" "4" "100485282" "100485282" "subst" "0.000539897" "02330" "MTTP_000003" "g.100485282G>A" "" "" "" "MTTP(NM_001300785.1):c.30G>A (p.G10=), MTTP(NM_001300785.2):c.-301G>A, TRMT10A(NM_152292.5):c.-770C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99564125G>A" "" "likely benign" "" "0000280128" "0" "10" "4" "100504664" "100504664" "subst" "0.248182" "02330" "MTTP_000053" "g.100504664T>C" "" "" "" "MTTP(NM_000253.4):c.383T>C (p.I128T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99583507T>C" "" "benign" "" "0000280129" "0" "30" "4" "100504685" "100504685" "subst" "0.000119478" "02330" "MTTP_000014" "g.100504685G>A" "" "" "" "MTTP(NM_000253.4):c.393+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99583528G>A" "" "likely benign" "" "0000280130" "0" "30" "4" "100510793" "100510793" "subst" "0.000142369" "02330" "MTTP_000054" "g.100510793C>T" "" "" "" "MTTP(NM_000253.3):c.394-7C>T, MTTP(NM_000253.4):c.394-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99589636C>T" "" "likely benign" "" "0000280131" "0" "10" "4" "100496105" "100496105" "subst" "0.0429574" "02330" "MTTP_000006" "g.100496105C>G" "" "" "" "MTTP(NM_000253.4):c.39C>G (p.S13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99574948C>G" "" "benign" "" "0000280132" "0" "10" "4" "100485255" "100485255" "subst" "0.257908" "02330" "MTTP_000066" "g.100485255G>A" "" "" "" "MTTP(NM_001300785.2):c.-328G>A, TRMT10A(NM_152292.5):c.-743C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99564098G>A" "" "benign" "" "0000280133" "0" "10" "4" "100510859" "100510859" "subst" "0.391704" "02330" "MTTP_000016" "g.100510859T>C" "" "" "" "MTTP(NM_000253.4):c.453T>C (p.G151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99589702T>C" "" "benign" "" "0000280134" "0" "30" "4" "100512380" "100512380" "subst" "0.000337308" "02330" "MTTP_000018" "g.100512380C>T" "" "" "" "MTTP(NM_000253.4):c.502-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99591223C>T" "" "likely benign" "" "0000280135" "0" "10" "4" "100512392" "100512392" "subst" "0.0102546" "02330" "MTTP_000056" "g.100512392G>A" "" "" "" "MTTP(NM_000253.2):c.502G>A (p.(Val168Ile)), MTTP(NM_000253.3):c.502G>A (p.V168I), MTTP(NM_000253.4):c.502G>A (p.V168I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99591235G>A" "" "benign" "" "0000280136" "0" "70" "4" "100496119" "100496119" "subst" "1.62439E-5" "02330" "MTTP_000007" "g.100496119C>T" "" "" "" "MTTP(NM_000253.4):c.53C>T (p.S18F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99574962C>T" "" "likely pathogenic" "" "0000280137" "0" "30" "4" "100512481" "100512481" "subst" "8.13068E-6" "02330" "MTTP_000057" "g.100512481G>A" "" "" "" "MTTP(NM_000253.4):c.591G>A (p.A197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99591324G>A" "" "likely benign" "" "0000280138" "0" "50" "4" "100503062" "100503062" "subst" "0" "02330" "MTTP_000008" "g.100503062G>T" "" "" "" "MTTP(NM_000253.4):c.62G>T (p.G21V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99581905G>T" "" "VUS" "" "0000280139" "0" "10" "4" "100512849" "100512849" "subst" "0.0268496" "02330" "MTTP_000020" "g.100512849T>C" "" "" "" "MTTP(NM_000253.4):c.660T>C (p.Y220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99591692T>C" "" "benign" "" "0000280140" "0" "10" "4" "100512919" "100512919" "subst" "0.031005" "02330" "MTTP_000058" "g.100512919C>G" "" "" "" "MTTP(NM_000253.3):c.730C>G (p.Q244E), MTTP(NM_000253.4):c.730C>G (p.Q244E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99591762C>G" "" "benign" "" "0000280141" "0" "50" "4" "100515900" "100515900" "subst" "4.06521E-5" "02330" "MTTP_000022" "g.100515900G>C" "" "" "" "MTTP(NM_000253.4):c.769G>C (p.E257Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99594743G>C" "" "VUS" "" "0000280142" "0" "10" "4" "100515934" "100515934" "subst" "5.6887E-5" "02330" "MTTP_000023" "g.100515934T>C" "" "" "" "MTTP(NM_000253.4):c.803T>C (p.M268T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99594777T>C" "" "benign" "" "0000280144" "0" "10" "4" "100516022" "100516022" "subst" "0.391126" "02330" "MTTP_000024" "g.100516022C>G" "" "" "" "MTTP(NM_000253.4):c.891C>G (p.H297Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99594865C>G" "" "benign" "" "0000280145" "0" "10" "4" "100518247" "100518247" "subst" "0.0432338" "02330" "MTTP_000025" "g.100518247C>A" "" "" "" "MTTP(NM_000253.4):c.933C>A (p.T311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99597090C>A" "" "benign" "" "0000280146" "0" "30" "4" "100503095" "100503095" "subst" "0.000714761" "02330" "MTTP_000050" "g.100503095G>A" "" "" "" "MTTP(NM_000253.4):c.95G>A (p.R32Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99581938G>A" "" "likely benign" "" "0000280147" "0" "10" "4" "100518283" "100518283" "subst" "0.0966968" "02330" "MTTP_000026" "g.100518283T>C" "" "" "" "MTTP(NM_000253.4):c.969T>C (p.A323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99597126T>C" "" "benign" "" "0000282680" "0" "30" "4" "100496061" "100496061" "subst" "0.00257479" "02325" "MTTP_000005" "g.100496061G>A" "" "" "" "MTTP(NM_000253.4):c.-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99574904G>A" "" "likely benign" "" "0000282681" "0" "50" "4" "100518330" "100518330" "subst" "0.000142395" "02325" "MTTP_000027" "g.100518330C>A" "" "" "" "MTTP(NM_000253.3):c.1016C>A (p.A339E), MTTP(NM_000253.4):c.1016C>A (p.A339E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99597173C>A" "" "VUS" "" "0000282682" "0" "10" "4" "100503136" "100503136" "subst" "0.0188559" "02325" "MTTP_000051" "g.100503136C>G" "" "" "" "MTTP(NM_000253.4):c.136C>G (p.R46G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99581979C>G" "" "benign" "" "0000282683" "0" "30" "4" "100542329" "100542329" "subst" "7.31404E-5" "02325" "MTTP_000044" "g.100542329G>A" "" "" "" "MTTP(NM_000253.4):c.2454G>A (p.Q818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99621172G>A" "" "likely benign" "" "0000282684" "0" "30" "4" "100542401" "100542401" "subst" "0.00140235" "02325" "MTTP_000045" "g.100542401G>A" "" "" "" "MTTP(NM_000253.4):c.2513+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99621244G>A" "" "likely benign" "" "0000282685" "0" "30" "4" "100543977" "100543977" "subst" "0.00034925" "02325" "MTTP_000047" "g.100543977C>T" "" "" "" "MTTP(NM_000253.3):c.2657C>T (p.P886L), MTTP(NM_000253.4):c.2657C>T (p.P886L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99622820C>T" "" "likely benign" "" "0000282686" "0" "30" "4" "100485282" "100485282" "subst" "0.000539897" "02325" "MTTP_000003" "g.100485282G>A" "" "" "" "MTTP(NM_001300785.1):c.30G>A (p.G10=), MTTP(NM_001300785.2):c.-301G>A, TRMT10A(NM_152292.5):c.-770C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99564125G>A" "" "likely benign" "" "0000282687" "0" "30" "4" "100504649" "100504649" "subst" "5.74204E-5" "02325" "MTTP_000012" "g.100504649C>T" "" "" "" "MTTP(NM_000253.4):c.368C>T (p.T123M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99583492C>T" "" "likely benign" "" "0000282689" "0" "30" "4" "100512392" "100512392" "subst" "0.0102546" "02325" "MTTP_000056" "g.100512392G>A" "" "" "" "MTTP(NM_000253.2):c.502G>A (p.(Val168Ile)), MTTP(NM_000253.3):c.502G>A (p.V168I), MTTP(NM_000253.4):c.502G>A (p.V168I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99591235G>A" "" "likely benign" "" "0000286702" "0" "10" "4" "100530148" "100530148" "subst" "0.0311958" "02326" "MTTP_000033" "g.100530148C>T" "" "" "" "MTTP(NM_000253.3):c.1769+14C>T, MTTP(NM_000253.4):c.1769+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99608991C>T" "" "benign" "" "0000286703" "0" "10" "4" "100532602" "100532602" "subst" "0.0268919" "02326" "MTTP_000038" "g.100532602G>A" "" "" "" "MTTP(NM_000253.3):c.1981G>A (p.G661S), MTTP(NM_000253.4):c.1981G>A (p.G661S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99611445G>A" "" "benign" "" "0000286704" "0" "30" "4" "100512392" "100512392" "subst" "0.0102546" "02326" "MTTP_000056" "g.100512392G>A" "" "" "" "MTTP(NM_000253.2):c.502G>A (p.(Val168Ile)), MTTP(NM_000253.3):c.502G>A (p.V168I), MTTP(NM_000253.4):c.502G>A (p.V168I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99591235G>A" "" "likely benign" "" "0000286705" "0" "10" "4" "100512919" "100512919" "subst" "0.031005" "02326" "MTTP_000058" "g.100512919C>G" "" "" "" "MTTP(NM_000253.3):c.730C>G (p.Q244E), MTTP(NM_000253.4):c.730C>G (p.Q244E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99591762C>G" "" "benign" "" "0000292142" "0" "50" "4" "100518330" "100518330" "subst" "0.000142395" "01943" "MTTP_000027" "g.100518330C>A" "" "" "" "MTTP(NM_000253.3):c.1016C>A (p.A339E), MTTP(NM_000253.4):c.1016C>A (p.A339E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99597173C>A" "" "VUS" "" "0000292143" "0" "30" "4" "100542308" "100542308" "subst" "0.00156052" "01943" "MTTP_000043" "g.100542308G>C" "" "" "" "MTTP(NM_000253.3):c.2433G>C (p.L811F), MTTP(NM_000253.4):c.2433G>C (p.L811F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99621151G>C" "" "likely benign" "" "0000292144" "0" "30" "4" "100543977" "100543977" "subst" "0.00034925" "01943" "MTTP_000047" "g.100543977C>T" "" "" "" "MTTP(NM_000253.3):c.2657C>T (p.P886L), MTTP(NM_000253.4):c.2657C>T (p.P886L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99622820C>T" "" "likely benign" "" "0000292145" "0" "50" "4" "100515885" "100515885" "subst" "0" "01943" "MTTP_000021" "g.100515885T>G" "" "" "" "MTTP(NM_000253.3):c.759-5T>G, MTTP(NM_000253.4):c.759-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99594728T>G" "" "VUS" "" "0000436536" "11" "90" "4" "100532489" "100532489" "subst" "0" "03105" "MTTP_000064" "g.100532489G>T" "" "{PMID:Di Filippo 2019:30875496}" "" "" "in vitro expression shows 0.60-0.65 MTTP activity; effect on RNA predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.99611332G>T" "" "pathogenic (recessive)" "" "0000436537" "21" "90" "4" "100519598" "100521795" "del" "0" "03105" "MTTP_000067" "g.100519598_100521795del" "" "{PMID:Di Filippo 2019:30875496}" "" "" "" "Germline" "yes" "" "0" "" "" "g.99598441_99600638del" "" "pathogenic" "" "0000437580" "11" "90" "4" "100512808" "100512808" "subst" "0" "00006" "MTTP_000001" "g.100512808G>T" "" "{PMID:Pons 2011:21394827}" "" "" "exon numbering differs from HGVS" "Germline" "yes" "" "0" "" "" "g.99591651G>T" "" "pathogenic (recessive)" "" "0000437581" "11" "90" "4" "100512808" "100512808" "subst" "0" "00006" "MTTP_000001" "g.100512808G>T" "" "{PMID:Pons 2011:21394827}" "" "" "exon numbering differs from HGVS" "Germline" "yes" "" "0" "" "" "g.99591651G>T" "" "pathogenic (recessive)" "" "0000437582" "21" "90" "4" "100522736" "100522736" "subst" "0" "00006" "MTTP_000002" "g.100522736A>G" "" "{PMID:Pons 2011:21394827}" "" "" "exon numbering differs from HGVS; probable branch point variant" "Germline" "yes" "" "0" "" "" "g.99601579A>G" "" "pathogenic (recessive)" "" "0000437583" "21" "90" "4" "100522736" "100522736" "subst" "0" "00006" "MTTP_000002" "g.100522736A>G" "" "{PMID:Pons 2011:21394827}" "" "" "exon numbering differs from HGVS; probable branch point variant" "Germline" "yes" "" "0" "" "" "g.99601579A>G" "" "pathogenic (recessive)" "" "0000437584" "0" "90" "4" "100540251" "100540251" "subst" "0" "00006" "MTTP_000096" "g.100540251A>T" "" "{PMID:Ohashi 2000:10946006}" "" "" "" "Germline" "" "" "0" "" "" "g.99619094A>T" "" "pathogenic (recessive)" "" "0000437585" "0" "90" "4" "100530134" "100530134" "subst" "0" "00006" "MTTP_000090" "g.100530134G>T" "" "{PMID:Wang 2000:10679949}" "" "" "" "Germline" "" "" "0" "" "" "g.99608977G>T" "" "pathogenic (recessive)" "" "0000437586" "0" "90" "4" "100543913" "100543913" "subst" "0.000121851" "00006" "MTTP_000099" "g.100543913G>T" "" "{PMID:Ricci 1995:7782284}" "" "" "" "Germline" "" "" "0" "" "" "g.99622756G>T" "" "pathogenic (recessive)" "" "0000437587" "0" "50" "4" "100504664" "100504664" "subst" "0.248182" "00006" "MTTP_000053" "g.100504664T>C" "" "{PMID:Rubin 2006:16721486}" "" "" "" "Germline" "" "rs3816873" "0" "" "" "g.99583507T>C" "" "association" "" "0000437588" "0" "90" "4" "100530056" "100530056" "subst" "1.62763E-5" "00006" "MTTP_000089" "g.100530056T>C" "" "{PMID:Sakamoto 2006:16143868}" "" "" "" "Germline" "" "" "0" "" "" "g.99608899T>C" "" "pathogenic (recessive)" "" "0000437589" "0" "90" "4" "100504588" "100504588" "subst" "0" "00006" "MTTP_000076" "g.100504588A>T" "" "{PMID:Benayoun 2007:17275380}" "" "" "" "Germline" "" "" "0" "" "" "g.99583431A>T" "" "pathogenic (recessive)" "" "0000437590" "0" "90" "4" "100522869" "100522869" "subst" "0" "00006" "MTTP_000083" "g.100522869A>T" "" "{PMID:Wang 2000:10679949}" "" "" "" "Germline" "" "" "0" "" "" "g.99601712A>T" "" "pathogenic (recessive)" "" "0000437591" "0" "90" "4" "100529951" "100529951" "subst" "0" "00006" "MTTP_000087" "g.100529951A>G" "" "{PMID:Sani 2011:21502686}" "" "" "" "Germline" "" "" "0" "" "" "g.99608794A>G" "" "pathogenic (recessive)" "" "0000437592" "0" "90" "4" "100529984" "100529984" "subst" "8.13326E-6" "00006" "MTTP_000088" "g.100529984G>A" "" "{PMID:Rehberg 1996:8939939}" "" "" "" "Germline" "" "" "0" "" "" "g.99608827G>A" "" "pathogenic (recessive)" "" "0000437593" "0" "90" "4" "100543844" "100543844" "subst" "0" "00006" "MTTP_000098" "g.100543844A>T" "" "{PMID:Wang 2000:10679949}" "" "" "" "Germline" "" "" "0" "" "" "g.99622687A>T" "" "pathogenic (recessive)" "" "0000437594" "0" "50" "4" "100521805" "100521805" "subst" "0.0432354" "00006" "MTTP_000028" "g.100521805A>C" "" "{PMID:Di Leo 2005:15910857}" "" "" "" "Germline" "" "rs17029215" "0" "" "" "g.99600648A>C" "" "VUS" "" "0000437595" "0" "90" "4" "100540150" "100540150" "subst" "4.06326E-6" "00006" "MTTP_000095" "g.100540150G>A" "" "{PMID:Wang 2000:10679949}" "" "" "" "Germline" "" "" "0" "" "" "g.99618993G>A" "" "pathogenic (recessive)" "" "0000437596" "0" "50" "4" "100532603" "100532603" "subst" "0" "00006" "MTTP_000093" "g.100532603G>C" "" "{PMID:Di Leo 2005:15910857}" "" "" "" "Germline" "" "" "0" "" "" "g.99611446G>C" "" "VUS" "" "0000437597" "0" "90" "4" "100532313" "100532313" "subst" "0" "00006" "MTTP_000091" "g.100532313C>T" "" "{PMID:Sharp 1993:8361539}" "" "" "" "Germline" "" "" "0" "" "" "g.99611156C>T" "" "pathogenic (recessive)" "" "0000437598" "0" "50" "4" "100503136" "100503136" "subst" "0.0188559" "00006" "MTTP_000051" "g.100503136C>G" "" "{PMID:Zeissig 2010:20592474}" "" "" "" "Germline" "" "rs141736123" "0" "" "" "g.99581979C>G" "" "VUS" "" "0000437599" "0" "90" "4" "100512472" "100512472" "subst" "0" "00006" "MTTP_000079" "g.100512472C>A" "" "{PMID:Chardon 2009:19066957}" "" "" "" "Germline" "" "" "0" "" "" "g.99591315C>A" "" "pathogenic (recessive)" "" "0000437600" "0" "90" "4" "100518237" "100518237" "subst" "0" "00006" "MTTP_000080" "g.100518237G>A" "" "{PMID:Najah 2009:19056372}" "" "" "" "Germline" "" "" "0" "" "" "g.99597080G>A" "" "pathogenic (recessive)" "" "0000437601" "0" "50" "4" "0" "0" "subst" "0" "00006" "MTTP_000073" "g.?" "" "{PMID:Karpe 1998:9598834}" "" "" "" "Germline" "" "rs1800591" "0" "" "" "" "" "association" "" "0000437602" "0" "50" "4" "0" "0" "subst" "0" "00006" "MTTP_000073" "g.?" "" "{PMID:Rubin 2008:17854051}" "" "" "" "Germline" "" "rs1800804" "0" "" "" "" "" "association" "" "0000437603" "0" "90" "4" "0" "0" "subst" "0" "00006" "MTTP_000073" "g.?" "" "{PMID:Sakamoto 2006:16143868}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000437604" "0" "90" "4" "0" "0" "subst" "0" "00006" "MTTP_000073" "g.?" "" "{PMID:Al-Mahdili 2006:17132287}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000437605" "0" "90" "4" "0" "0" "subst" "0" "00006" "MTTP_000073" "g.?" "" "{PMID:Benayoun 2007:17275380}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000437606" "0" "90" "4" "0" "0" "subst" "0" "00006" "MTTP_000073" "g.?" "" "{PMID:Wang 2000:10679949}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000437607" "0" "90" "4" "0" "0" "subst" "0" "00006" "MTTP_000073" "g.?" "" "{PMID:Narcisi 1995:8533758}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000437608" "0" "90" "4" "0" "0" "subst" "0" "00006" "MTTP_000073" "g.?" "" "{PMID:Shoulders 1993:8111381}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000437609" "0" "90" "4" "0" "0" "subst" "0" "00006" "MTTP_000073" "g.?" "" "{PMID:Narcisi 1995:8533758}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000437610" "0" "90" "4" "0" "0" "subst" "0" "00006" "MTTP_000073" "g.?" "" "{PMID:Ohashi 2000:10946006}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000437611" "0" "50" "4" "0" "0" "subst" "0" "00006" "MTTP_000073" "g.?" "" "{PMID:Zeissig 2010:20592474}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000437612" "0" "90" "4" "0" "0" "subst" "0" "00006" "MTTP_000073" "g.?" "" "{PMID:Pons 2011:21394827}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000437613" "0" "90" "4" "0" "0" "subst" "0" "00006" "MTTP_000073" "g.?" "" "{PMID:Najah 2009:19056372}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000437614" "0" "90" "4" "0" "0" "subst" "0" "00006" "MTTP_000073" "g.?" "" "{PMID:Pons 2011:21394827}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000437615" "0" "90" "4" "0" "0" "subst" "0" "00006" "MTTP_000073" "g.?" "" "{PMID:Yang 1999:10446076}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000437616" "0" "90" "4" "100521883" "100521885" "delins" "0" "00006" "MTTP_000082" "g.100521883_100521885delinsT" "" "{PMID:Di Leo 2005:15910857}" "" "" "" "Germline" "" "" "0" "" "" "g.99600726_99600728delinsT" "" "pathogenic (recessive)" "" "0000437617" "0" "90" "4" "100534292" "100534292" "subst" "0" "00006" "MTTP_000094" "g.100534292del" "" "{PMID:Narcisi 1995:8533758}" "" "" "" "Germline" "" "" "0" "" "" "g.99613135del" "" "pathogenic (recessive)" "" "0000437618" "0" "90" "4" "100532350" "100532350" "subst" "0" "00006" "MTTP_000092" "g.100532350del" "" "{PMID:Wang 2000:10679949}" "" "" "" "Germline" "" "" "0" "" "" "g.99611193del" "" "pathogenic (recessive)" "" "0000437619" "0" "90" "4" "100527949" "100527949" "subst" "0" "00006" "MTTP_000085" "g.100527949del" "" "{PMID:Ohashi 2000:10946006}" "" "" "" "Germline" "" "" "0" "" "" "g.99606792del" "" "pathogenic (recessive)" "" "0000437620" "0" "90" "4" "100510804" "100510805" "del" "0" "00006" "MTTP_000077" "g.100510804_100510805del" "" "{PMID:Tarugi 2007:17570373}" "" "" "" "Germline" "" "" "0" "" "" "g.99589647_99589648del" "" "pathogenic (recessive)" "" "0000437621" "0" "90" "4" "100522876" "100522882" "del" "0" "00006" "MTTP_000084" "g.100522876_100522882del" "" "{PMID:Narcisi 1995:8533758}" "" "" "" "Germline" "" "" "0" "" "" "g.99601719_99601725del" "" "pathogenic (recessive)" "" "0000437622" "0" "90" "4" "100496125" "100496141" "del" "0" "00006" "MTTP_000074" "g.100496125_100496141del" "" "{PMID:Chardon 2009:19066957}" "" "" "" "Germline" "" "" "0" "" "" "g.99574968_99574984del" "" "pathogenic (recessive)" "" "0000437623" "0" "90" "4" "100503215" "100503215" "subst" "0" "00006" "MTTP_000075" "g.100503215del" "" "{PMID:Sharp 1993:8361539}" "" "" "" "Germline" "" "" "0" "" "" "g.99582058del" "" "pathogenic (recessive)" "" "0000437624" "0" "90" "4" "100521801" "100521801" "subst" "0" "00006" "MTTP_000081" "g.100521801del" "" "{PMID:Narcisi 1995:8533758}" "" "" "" "Germline" "" "" "0" "" "" "g.99600644del" "" "pathogenic (recessive)" "" "0000437625" "0" "90" "4" "100527961" "100527961" "dup" "0" "00006" "MTTP_000086" "g.100527961dup" "" "{PMID:Narcisi 1995:8533758}" "" "" "" "Germline" "" "" "0" "" "" "g.99606804dup" "" "pathogenic (recessive)" "" "0000437626" "0" "90" "4" "100542222" "100542225" "dup" "0" "00006" "MTTP_000097" "g.100542222_100542225dup" "" "{PMID:Heath 1997:9467817}" "" "" "" "Germline" "" "" "0" "" "" "g.99621065_99621068dup" "" "pathogenic (recessive)" "" "0000437627" "0" "90" "4" "100510825" "100510825" "dup" "0" "00006" "MTTP_000078" "g.100510825dup" "" "{PMID:Narcisi 1995:8533758}" "" "" "" "Germline" "" "" "0" "" "" "g.99589668dup" "" "pathogenic (recessive)" "" "0000437628" "3" "90" "4" "100518223" "100518223" "subst" "0" "00006" "MTTP_000068" "g.100518223G>T" "" "{PMID:Di Filippo 2014:24842304}, {DOI:Di Filippo 2014:10.1016/j.jhep.2014.05.023}" "" "" "" "Germline" "" "" "0" "" "" "g.99597066G>T" "" "pathogenic (recessive)" "" "0000437629" "3" "90" "4" "100527952" "100527952" "del" "0" "00006" "MTTP_000069" "g.100527952del" "" "{PMID:Di Filippo 2014:24842304}, {DOI:Di Filippo 2014:10.1016/j.jhep.2014.05.023}" "" "1392delA" "" "Germline" "" "" "0" "" "" "g.99606795del" "" "pathogenic (recessive)" "" "0000437630" "3" "90" "4" "100530020" "100530020" "subst" "4.06706E-6" "00006" "MTTP_000070" "g.100530020C>T" "" "{PMID:Di Filippo 2014:24842304}, {DOI:Di Filippo 2014:10.1016/j.jhep.2014.05.023}" "" "" "" "Germline" "" "" "0" "" "" "g.99608863C>T" "" "pathogenic (recessive)" "" "0000437631" "3" "90" "4" "100519598" "100521795" "del" "0" "00006" "MTTP_000067" "g.100519598_100521795del" "" "{PMID:Di Filippo 2014:24842304}, {DOI:Di Filippo 2014:10.1016/j.jhep.2014.05.023}" "" "1068-2127_1138del2198" "" "Germline" "" "" "0" "" "" "g.99598441_99600638del" "" "pathogenic (recessive)" "" "0000437632" "1" "90" "4" "100496067" "100496067" "subst" "0" "00006" "MTTP_000071" "g.100496067A>G" "" "{PMID:Di Filippo 2014:24842304}, {DOI:Di Filippo 2014:10.1016/j.jhep.2014.05.023}" "" "" "" "Germline" "" "" "0" "" "" "g.99574910A>G" "" "pathogenic (recessive)" "" "0000437633" "2" "90" "4" "100542320" "100542320" "del" "0" "00006" "MTTP_000072" "g.100542320del" "" "{PMID:Di Filippo 2014:24842304}, {DOI:Di Filippo 2014:10.1016/j.jhep.2014.05.023}" "" "2445delC" "" "Germline" "" "" "0" "" "" "g.99621163del" "" "pathogenic (recessive)" "" "0000437634" "1" "90" "4" "100503154" "100503154" "subst" "0" "00006" "MTTP_000010" "g.100503154C>T" "" "{PMID:Di Filippo 2014:24842304}, {DOI:Di Filippo 2014:10.1016/j.jhep.2014.05.023}" "" "" "" "Germline" "" "" "0" "" "" "g.99581997C>T" "" "pathogenic (recessive)" "" "0000437635" "2" "90" "4" "100540129" "100540129" "subst" "0" "00006" "MTTP_000041" "g.100540129A>G" "" "{PMID:Di Filippo 2014:24842304}, {DOI:Di Filippo 2014:10.1016/j.jhep.2014.05.023}" "" "" "" "Germline" "" "" "0" "" "" "g.99618972A>G" "" "pathogenic (recessive)" "" "0000437636" "3" "90" "4" "100527952" "100527952" "del" "0" "00006" "MTTP_000069" "g.100527952del" "" "{PMID:Di Filippo 2014:24842304}, {DOI:Di Filippo 2014:10.1016/j.jhep.2014.05.023}" "" "1392delA" "" "Germline" "" "" "0" "" "" "g.99606795del" "" "pathogenic (recessive)" "" "0000520907" "0" "30" "4" "100480431" "100480431" "subst" "0" "01804" "MTTP_000100" "g.100480431T>C" "" "" "" "TRMT10A(NM_001134665.1):c.65A>G (p.(Asn22Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99559274T>C" "" "likely benign" "" "0000520908" "0" "50" "4" "100485256" "100485256" "subst" "0" "02330" "MTTP_000101" "g.100485256G>A" "" "" "" "MTTP(NM_001300785.2):c.-327G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99564099G>A" "" "VUS" "" "0000520909" "0" "30" "4" "100485282" "100485282" "subst" "0.000539897" "01943" "MTTP_000003" "g.100485282G>A" "" "" "" "MTTP(NM_001300785.1):c.30G>A (p.G10=), MTTP(NM_001300785.2):c.-301G>A, TRMT10A(NM_152292.5):c.-770C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99564125G>A" "" "likely benign" "" "0000520910" "0" "50" "4" "100485284" "100485284" "subst" "0.000230243" "02330" "MTTP_000102" "g.100485284G>A" "" "" "" "MTTP(NM_000253.4):c.-212G>A, MTTP(NM_001300785.1):c.32G>A (p.R11Q), TRMT10A(NM_152292.5):c.-772C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99564127G>A" "" "VUS" "" "0000520911" "0" "30" "4" "100485284" "100485284" "subst" "0.000230243" "01943" "MTTP_000102" "g.100485284G>A" "" "" "" "MTTP(NM_000253.4):c.-212G>A, MTTP(NM_001300785.1):c.32G>A (p.R11Q), TRMT10A(NM_152292.5):c.-772C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99564127G>A" "" "likely benign" "" "0000520912" "0" "50" "4" "100485334" "100485335" "ins" "0" "02330" "MTTP_000103" "g.100485334_100485335insACG" "" "" "" "MTTP(NM_001300785.2):c.-249_-248insACG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99564177_99564178insACG" "" "VUS" "" "0000520913" "0" "10" "4" "100495817" "100495817" "subst" "0" "02330" "MTTP_000104" "g.100495817T>C" "" "" "" "MTTP(NM_000253.4):c.-101-149T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99574660T>C" "" "benign" "" "0000520914" "0" "50" "4" "100496109" "100496109" "subst" "0" "01943" "MTTP_000105" "g.100496109T>C" "" "" "" "MTTP(NM_000253.3):c.43T>C (p.Y15H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99574952T>C" "" "VUS" "" "0000520915" "0" "10" "4" "100496116" "100496116" "subst" "4.06091E-6" "02330" "MTTP_000106" "g.100496116C>T" "" "" "" "MTTP(NM_000253.4):c.50C>T (p.A17V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99574959C>T" "" "benign" "" "0000520916" "0" "30" "4" "100496263" "100496264" "del" "0" "02330" "MTTP_000107" "g.100496263_100496264del" "" "" "" "MTTP(NM_000253.4):c.61+136_61+137delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99575106_99575107del" "" "likely benign" "" "0000520917" "0" "10" "4" "100502747" "100502747" "subst" "0" "02330" "MTTP_000108" "g.100502747T>C" "" "" "" "MTTP(NM_000253.4):c.62-315T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99581590T>C" "" "benign" "" "0000520918" "0" "10" "4" "100502787" "100502787" "del" "0" "02330" "MTTP_000109" "g.100502787del" "" "" "" "MTTP(NM_000253.4):c.62-275delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99581630del" "" "benign" "" "0000520919" "0" "10" "4" "100502822" "100502822" "subst" "0" "02330" "MTTP_000110" "g.100502822G>T" "" "" "" "MTTP(NM_000253.4):c.62-240G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99581665G>T" "" "benign" "" "0000520920" "0" "50" "4" "100503124" "100503124" "subst" "0.000332992" "02325" "MTTP_000111" "g.100503124G>A" "" "" "" "MTTP(NM_000253.4):c.124G>A (p.V42I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99581967G>A" "" "VUS" "" "0000520922" "0" "30" "4" "100503146" "100503146" "subst" "8.12196E-5" "02330" "MTTP_000112" "g.100503146G>A" "" "" "" "MTTP(NM_000253.4):c.146G>A (p.G49E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99581989G>A" "" "likely benign" "" "0000520923" "0" "30" "4" "100504908" "100504908" "subst" "0" "02330" "MTTP_000113" "g.100504908G>A" "" "" "" "MTTP(NM_000253.4):c.393+234G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99583751G>A" "" "likely benign" "" "0000520924" "0" "10" "4" "100504985" "100504985" "subst" "0" "02330" "MTTP_000114" "g.100504985G>A" "" "" "" "MTTP(NM_000253.4):c.393+311G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99583828G>A" "" "benign" "" "0000520925" "0" "10" "4" "100505010" "100505010" "subst" "0" "02330" "MTTP_000115" "g.100505010A>G" "" "" "" "MTTP(NM_000253.4):c.393+336A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99583853A>G" "" "benign" "" "0000520926" "0" "30" "4" "100510491" "100510491" "subst" "0" "02330" "MTTP_000116" "g.100510491G>T" "" "" "" "MTTP(NM_000253.4):c.394-309G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99589334G>T" "" "likely benign" "" "0000520927" "0" "10" "4" "100510550" "100510550" "subst" "0" "02330" "MTTP_000117" "g.100510550G>A" "" "" "" "MTTP(NM_000253.4):c.394-250G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99589393G>A" "" "benign" "" "0000520928" "0" "70" "4" "100510805" "100510805" "dup" "0" "02330" "MTTP_000118" "g.100510805dup" "" "" "" "MTTP(NM_000253.4):c.399dupA (p.E134Rfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99589648dup" "" "likely pathogenic" "" "0000520929" "0" "30" "4" "100510888" "100510888" "subst" "0" "02330" "MTTP_000119" "g.100510888G>A" "" "" "" "MTTP(NM_000253.4):c.482G>A (p.S161N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99589731G>A" "" "likely benign" "" "0000520930" "0" "30" "4" "100511015" "100511015" "subst" "0" "02330" "MTTP_000120" "g.100511015G>A" "" "" "" "MTTP(NM_000253.4):c.501+108G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99589858G>A" "" "likely benign" "" "0000520931" "0" "10" "4" "100511254" "100511254" "subst" "0" "02330" "MTTP_000121" "g.100511254C>T" "" "" "" "MTTP(NM_000253.4):c.501+347C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99590097C>T" "" "benign" "" "0000520932" "0" "30" "4" "100511270" "100511270" "dup" "0" "02330" "MTTP_000122" "g.100511270dup" "" "" "" "MTTP(NM_000253.4):c.501+363dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99590113dup" "" "likely benign" "" "0000520933" "0" "10" "4" "100511949" "100511949" "subst" "0" "02330" "MTTP_000123" "g.100511949C>T" "" "" "" "MTTP(NM_000253.4):c.502-443C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99590792C>T" "" "benign" "" "0000520934" "0" "10" "4" "100512015" "100512015" "del" "0" "02330" "MTTP_000124" "g.100512015del" "" "" "" "MTTP(NM_000253.4):c.502-377delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99590858del" "" "benign" "" "0000520935" "0" "30" "4" "100512016" "100512021" "del" "0" "02330" "MTTP_000125" "g.100512016_100512021del" "" "" "" "MTTP(NM_000253.4):c.502-376_502-371delACACAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99590859_99590864del" "" "likely benign" "" "0000520936" "0" "10" "4" "100512018" "100512018" "del" "0" "02330" "MTTP_000126" "g.100512018del" "" "" "" "MTTP(NM_000253.4):c.502-374delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99590861del" "" "benign" "" "0000520937" "0" "10" "4" "100512020" "100512021" "del" "0" "02330" "MTTP_000127" "g.100512020_100512021del" "" "" "" "MTTP(NM_000253.4):c.502-372_502-371delAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99590863_99590864del" "" "benign" "" "0000520938" "0" "10" "4" "100512022" "100512022" "del" "0" "02330" "MTTP_000128" "g.100512022del" "" "" "" "MTTP(NM_000253.4):c.502-370delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99590865del" "" "benign" "" "0000520939" "0" "10" "4" "100512138" "100512138" "subst" "0" "02330" "MTTP_000129" "g.100512138C>T" "" "" "" "MTTP(NM_000253.4):c.502-254C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99590981C>T" "" "benign" "" "0000520940" "0" "10" "4" "100512350" "100512350" "subst" "0.0765305" "02330" "MTTP_000130" "g.100512350C>T" "" "" "" "MTTP(NM_000253.4):c.502-42C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99591193C>T" "" "benign" "" "0000520941" "0" "30" "4" "100512375" "100512375" "subst" "0" "02330" "MTTP_000131" "g.100512375C>G" "" "" "" "MTTP(NM_000253.4):c.502-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99591218C>G" "" "likely benign" "" "0000520942" "0" "70" "4" "100512411" "100512411" "subst" "0" "02330" "MTTP_000132" "g.100512411G>A" "" "" "" "MTTP(NM_000253.4):c.521G>A (p.C174Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99591254G>A" "" "likely pathogenic" "" "0000520943" "0" "10" "4" "100512412" "100512412" "subst" "0.0887386" "02330" "MTTP_000133" "g.100512412T>C" "" "" "" "MTTP(NM_000253.4):c.522T>C (p.C174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99591255T>C" "" "benign" "" "0000520944" "0" "50" "4" "100512891" "100512891" "subst" "4.47945E-5" "02330" "MTTP_000134" "g.100512891A>C" "" "" "" "MTTP(NM_000253.4):c.702A>C (p.E234D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99591734A>C" "" "VUS" "" "0000520945" "0" "30" "4" "100512960" "100512960" "subst" "3.82901E-5" "02330" "MTTP_000135" "g.100512960T>C" "" "" "" "MTTP(NM_000253.4):c.758+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99591803T>C" "" "likely benign" "" "0000520946" "0" "10" "4" "100513042" "100513045" "del" "0" "02330" "MTTP_000136" "g.100513042_100513045del" "" "" "" "MTTP(NM_000253.4):c.758+95_758+98delTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99591885_99591888del" "" "benign" "" "0000520947" "0" "30" "4" "100513044" "100513045" "del" "0" "02330" "MTTP_000137" "g.100513044_100513045del" "" "" "" "MTTP(NM_000253.4):c.758+97_758+98delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99591887_99591888del" "" "likely benign" "" "0000520948" "0" "10" "4" "100515774" "100515774" "subst" "0" "02330" "MTTP_000138" "g.100515774A>G" "" "" "" "MTTP(NM_000253.4):c.759-116A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99594617A>G" "" "benign" "" "0000520949" "0" "30" "4" "100515877" "100515877" "del" "0" "02330" "MTTP_000139" "g.100515877del" "" "" "" "MTTP(NM_000253.4):c.759-13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99594720del" "" "likely benign" "" "0000520950" "0" "30" "4" "100515930" "100515930" "subst" "0.000142226" "02330" "MTTP_000140" "g.100515930T>C" "" "" "" "MTTP(NM_000253.4):c.799T>C (p.L267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99594773T>C" "" "likely benign" "" "0000520951" "0" "30" "4" "100515951" "100515951" "subst" "8.14266E-6" "02330" "MTTP_000141" "g.100515951G>A" "" "" "" "MTTP(NM_000253.4):c.820G>A (p.A274T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99594794G>A" "" "likely benign" "" "0000520952" "0" "50" "4" "100515964" "100515964" "subst" "4.06293E-6" "02330" "MTTP_000142" "g.100515964A>G" "" "" "" "MTTP(NM_000253.4):c.833A>G (p.K278R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99594807A>G" "" "VUS" "" "0000520953" "0" "30" "4" "100515985" "100515985" "subst" "5.28275E-5" "02330" "MTTP_000143" "g.100515985C>T" "" "" "" "MTTP(NM_000253.3):c.854C>T (p.T285M), MTTP(NM_000253.4):c.854C>T (p.T285M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99594828C>T" "" "likely benign" "" "0000520954" "0" "10" "4" "100516380" "100516380" "subst" "0" "02330" "MTTP_000144" "g.100516380T>A" "" "" "" "MTTP(NM_000253.4):c.909+340T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99595223T>A" "" "benign" "" "0000520955" "0" "30" "4" "100518328" "100518328" "subst" "0" "02330" "MTTP_000145" "g.100518328T>C" "" "" "" "MTTP(NM_000253.4):c.1014T>C (p.T338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99597171T>C" "" "likely benign" "" "0000520956" "0" "10" "4" "100518483" "100518483" "subst" "0" "02330" "MTTP_000146" "g.100518483A>T" "" "" "" "MTTP(NM_000253.4):c.1067+102A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99597326A>T" "" "benign" "" "0000520957" "0" "30" "4" "100518714" "100518714" "subst" "0" "02330" "MTTP_000147" "g.100518714T>G" "" "" "" "MTTP(NM_000253.4):c.1067+333T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99597557T>G" "" "likely benign" "" "0000520958" "0" "10" "4" "100521614" "100521614" "del" "0" "02330" "MTTP_000148" "g.100521614del" "" "" "" "MTTP(NM_000253.4):c.1068-108delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99600457del" "" "benign" "" "0000520959" "0" "10" "4" "100521637" "100521637" "subst" "0" "02330" "MTTP_000149" "g.100521637C>T" "" "" "" "MTTP(NM_000253.4):c.1068-85C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99600480C>T" "" "benign" "" "0000520960" "0" "30" "4" "100521638" "100521638" "subst" "0" "02330" "MTTP_000150" "g.100521638C>T" "" "" "" "MTTP(NM_000253.4):c.1068-84C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99600481C>T" "" "likely benign" "" "0000520961" "0" "30" "4" "100521712" "100521712" "subst" "4.06848E-6" "02330" "MTTP_000151" "g.100521712T>A" "" "" "" "MTTP(NM_000253.4):c.1068-10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99600555T>A" "" "likely benign" "" "0000520962" "0" "30" "4" "100521717" "100521717" "del" "0" "02330" "MTTP_000152" "g.100521717del" "" "" "" "MTTP(NM_000253.4):c.1068-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99600560del" "" "likely benign" "" "0000520963" "0" "50" "4" "100521801" "100521801" "subst" "4.06739E-6" "02330" "MTTP_000153" "g.100521801A>T" "" "" "" "MTTP(NM_000253.4):c.1147A>T (p.S383C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99600644A>T" "" "VUS" "" "0000520964" "0" "30" "4" "100521865" "100521865" "subst" "0.000142472" "01943" "MTTP_000154" "g.100521865A>G" "" "" "" "MTTP(NM_000253.3):c.1211A>G (p.N404S), MTTP(NM_000253.4):c.1211A>G (p.N404S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99600708A>G" "" "likely benign" "" "0000520965" "0" "30" "4" "100522497" "100522497" "del" "0" "02330" "MTTP_000155" "g.100522497del" "" "" "" "MTTP(NM_000253.4):c.1237-267delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99601340del" "" "likely benign" "" "0000520966" "0" "10" "4" "100522539" "100522539" "subst" "0" "02330" "MTTP_000156" "g.100522539T>G" "" "" "" "MTTP(NM_000253.4):c.1237-225T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99601382T>G" "" "benign" "" "0000520967" "0" "10" "4" "100522592" "100522592" "subst" "0" "02330" "MTTP_000157" "g.100522592C>T" "" "" "" "MTTP(NM_000253.4):c.1237-172C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99601435C>T" "" "benign" "" "0000520968" "0" "30" "4" "100522679" "100522679" "subst" "0" "02330" "MTTP_000158" "g.100522679G>A" "" "" "" "MTTP(NM_000253.4):c.1237-85G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99601522G>A" "" "likely benign" "" "0000520969" "0" "70" "4" "100522783" "100522783" "subst" "0" "02330" "MTTP_000159" "g.100522783T>C" "" "" "" "MTTP(NM_000253.4):c.1256T>C (p.I419T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99601626T>C" "" "likely pathogenic" "" "0000520970" "0" "30" "4" "100527828" "100527828" "subst" "0" "02330" "MTTP_000160" "g.100527828C>T" "" "" "" "MTTP(NM_000253.4):c.1345-77C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99606671C>T" "" "likely benign" "" "0000520971" "0" "30" "4" "100527890" "100527890" "subst" "4.0782E-6" "02330" "MTTP_000161" "g.100527890T>C" "" "" "" "MTTP(NM_000253.4):c.1345-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99606733T>C" "" "likely benign" "" "0000520972" "0" "30" "4" "100527891" "100527891" "subst" "0" "02330" "MTTP_000162" "g.100527891A>G" "" "" "" "MTTP(NM_000253.4):c.1345-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99606734A>G" "" "likely benign" "" "0000520973" "0" "30" "4" "100527961" "100527961" "subst" "0.000154591" "02330" "MTTP_000163" "g.100527961A>G" "" "" "" "MTTP(NM_000253.4):c.1401A>G (p.K467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99606804A>G" "" "likely benign" "" "0000520974" "0" "30" "4" "100527979" "100527979" "subst" "4.06815E-6" "02330" "MTTP_000164" "g.100527979T>C" "" "" "" "MTTP(NM_000253.4):c.1419T>C (p.Y473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99606822T>C" "" "likely benign" "" "0000520975" "0" "30" "4" "100528055" "100528055" "subst" "0" "02330" "MTTP_000165" "g.100528055C>A" "" "" "" "MTTP(NM_000253.4):c.1495C>A (p.P499T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99606898C>A" "" "likely benign" "" "0000520976" "0" "10" "4" "100528164" "100528165" "dup" "0" "02330" "MTTP_000166" "g.100528164_100528165dup" "" "" "" "MTTP(NM_000253.4):c.1557+47_1557+48dupAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99607007_99607008dup" "" "benign" "" "0000520977" "0" "10" "4" "100528165" "100528165" "del" "0" "02330" "MTTP_000167" "g.100528165del" "" "" "" "MTTP(NM_000253.4):c.1557+48delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99607008del" "" "benign" "" "0000520978" "0" "10" "4" "100528165" "100528165" "dup" "0" "02330" "MTTP_000168" "g.100528165dup" "" "" "" "MTTP(NM_000253.4):c.1557+48dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99607008dup" "" "benign" "" "0000520979" "0" "10" "4" "100528308" "100528313" "del" "0" "02330" "MTTP_000169" "g.100528308_100528313del" "" "" "" "MTTP(NM_000253.4):c.1557+191_1557+196delTATATC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99607151_99607156del" "" "benign" "" "0000520980" "0" "10" "4" "100528381" "100528381" "subst" "0" "02330" "MTTP_000170" "g.100528381C>T" "" "" "" "MTTP(NM_000253.4):c.1557+264C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99607224C>T" "" "benign" "" "0000520981" "0" "30" "4" "100528409" "100528409" "subst" "0" "02330" "MTTP_000171" "g.100528409T>C" "" "" "" "MTTP(NM_000253.4):c.1557+292T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99607252T>C" "" "likely benign" "" "0000520982" "0" "30" "4" "100529960" "100529960" "subst" "1.62682E-5" "01943" "MTTP_000172" "g.100529960G>A" "" "" "" "MTTP(NM_000253.3):c.1595G>A (p.R532H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99608803G>A" "" "likely benign" "" "0000520983" "0" "30" "4" "100530080" "100530080" "subst" "0.000399046" "01943" "MTTP_000173" "g.100530080A>G" "" "" "" "MTTP(NM_000253.3):c.1715A>G (p.N572S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99608923A>G" "" "likely benign" "" "0000520984" "0" "30" "4" "100530093" "100530093" "subst" "1.22292E-5" "02330" "MTTP_000174" "g.100530093C>T" "" "" "" "MTTP(NM_000253.4):c.1728C>T (p.L576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99608936C>T" "" "likely benign" "" "0000520985" "0" "70" "4" "100530135" "100530135" "subst" "0" "02330" "MTTP_000175" "g.100530135G>T" "" "" "" "MTTP(NM_000253.4):c.1769+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99608978G>T" "" "likely pathogenic" "" "0000520986" "0" "10" "4" "100530547" "100530547" "subst" "0" "02330" "MTTP_000176" "g.100530547A>G" "" "" "" "MTTP(NM_000253.4):c.1769+413A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99609390A>G" "" "benign" "" "0000520987" "0" "30" "4" "100530586" "100530586" "subst" "0" "02330" "MTTP_000177" "g.100530586G>A" "" "" "" "MTTP(NM_000253.4):c.1769+452G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99609429G>A" "" "likely benign" "" "0000520988" "0" "10" "4" "100531997" "100531997" "subst" "0" "02330" "MTTP_000178" "g.100531997C>A" "" "" "" "MTTP(NM_000253.4):c.1770-303C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99610840C>A" "" "benign" "" "0000520989" "0" "10" "4" "100532232" "100532232" "del" "0" "02330" "MTTP_000179" "g.100532232del" "" "" "" "MTTP(NM_000253.4):c.1770-68delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99611075del" "" "benign" "" "0000520990" "0" "10" "4" "100532253" "100532253" "subst" "0.155253" "02330" "MTTP_000180" "g.100532253A>T" "" "" "" "MTTP(NM_000253.4):c.1770-47A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99611096A>T" "" "benign" "" "0000520991" "0" "10" "4" "100532290" "100532290" "subst" "0" "02330" "MTTP_000181" "g.100532290T>C" "" "" "" "MTTP(NM_000253.3):c.1770-10T>C, MTTP(NM_000253.4):c.1770-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99611133T>C" "" "benign" "" "0000520992" "0" "30" "4" "100532290" "100532290" "subst" "0" "01943" "MTTP_000181" "g.100532290T>C" "" "" "" "MTTP(NM_000253.3):c.1770-10T>C, MTTP(NM_000253.4):c.1770-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99611133T>C" "" "likely benign" "" "0000520993" "0" "30" "4" "100532292" "100532292" "subst" "4.06276E-6" "02330" "MTTP_000182" "g.100532292T>C" "" "" "" "MTTP(NM_000253.4):c.1770-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99611135T>C" "" "likely benign" "" "0000520994" "0" "30" "4" "100532416" "100532416" "subst" "0.000357474" "02330" "MTTP_000183" "g.100532416G>A" "" "" "" "MTTP(NM_000253.4):c.1867+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99611259G>A" "" "likely benign" "" "0000520995" "0" "10" "4" "100532433" "100532433" "subst" "0.0268743" "02330" "MTTP_000184" "g.100532433C>T" "" "" "" "MTTP(NM_000253.4):c.1867+36C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99611276C>T" "" "benign" "" "0000520996" "0" "50" "4" "100532504" "100532504" "subst" "0" "02330" "MTTP_000185" "g.100532504C>T" "" "" "" "MTTP(NM_000253.4):c.1883C>T (p.A628V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99611347C>T" "" "VUS" "" "0000520997" "0" "30" "4" "100532617" "100532617" "subst" "0" "02330" "MTTP_000186" "g.100532617C>T" "" "" "" "MTTP(NM_000253.4):c.1989+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99611460C>T" "" "likely benign" "" "0000520998" "0" "10" "4" "100532637" "100532637" "subst" "0.0966121" "02330" "MTTP_000187" "g.100532637T>C" "" "" "" "MTTP(NM_000253.4):c.1989+27T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99611480T>C" "" "benign" "" "0000520999" "0" "10" "4" "100532802" "100532802" "subst" "0" "02330" "MTTP_000188" "g.100532802T>A" "" "" "" "MTTP(NM_000253.4):c.1989+192T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99611645T>A" "" "benign" "" "0000521000" "0" "10" "4" "100533722" "100533722" "subst" "0" "02330" "MTTP_000189" "g.100533722C>A" "" "" "" "MTTP(NM_000253.4):c.1990-348C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99612565C>A" "" "benign" "" "0000521001" "0" "10" "4" "100533913" "100533913" "subst" "0" "02330" "MTTP_000190" "g.100533913C>T" "" "" "" "MTTP(NM_000253.4):c.1990-157C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99612756C>T" "" "benign" "" "0000521002" "0" "10" "4" "100534041" "100534041" "subst" "0.165484" "02330" "MTTP_000191" "g.100534041G>A" "" "" "" "MTTP(NM_000253.4):c.1990-29G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99612884G>A" "" "benign" "" "0000521003" "0" "30" "4" "100534052" "100534053" "ins" "0" "02330" "MTTP_000192" "g.100534052_100534053insTTT" "" "" "" "MTTP(NM_000253.4):c.1990-18_1990-17insTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99612895_99612896insTTT" "" "likely benign" "" "0000521004" "0" "10" "4" "100534105" "100534105" "subst" "0.000268339" "02330" "MTTP_000193" "g.100534105C>T" "" "" "" "MTTP(NM_000253.4):c.2025C>T (p.I675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99612948C>T" "" "benign" "" "0000521005" "0" "30" "4" "100534120" "100534120" "subst" "3.25238E-5" "02330" "MTTP_000194" "g.100534120C>T" "" "" "" "MTTP(NM_000253.4):c.2040C>T (p.D680=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99612963C>T" "" "likely benign" "" "0000521006" "0" "50" "4" "100534121" "100534121" "subst" "4.06537E-6" "02330" "MTTP_000195" "g.100534121G>A" "" "" "" "MTTP(NM_000253.4):c.2041G>A (p.E681K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99612964G>A" "" "VUS" "" "0000521007" "0" "50" "4" "100534149" "100534149" "subst" "0" "02330" "MTTP_000196" "g.100534149C>T" "" "" "" "MTTP(NM_000253.4):c.2069C>T (p.A690V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99612992C>T" "" "VUS" "" "0000521008" "0" "30" "4" "100534203" "100534203" "subst" "0" "02330" "MTTP_000197" "g.100534203A>G" "" "" "" "MTTP(NM_000253.4):c.2123A>G (p.N708S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99613046A>G" "" "likely benign" "" "0000521009" "0" "50" "4" "100534224" "100534224" "subst" "3.25206E-5" "02330" "MTTP_000198" "g.100534224C>G" "" "" "" "MTTP(NM_000253.3):c.2144C>G (p.S715C), MTTP(NM_000253.4):c.2144C>G (p.S715C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99613067C>G" "" "VUS" "" "0000521010" "0" "10" "4" "100534482" "100534482" "subst" "0" "02330" "MTTP_000199" "g.100534482A>T" "" "" "" "MTTP(NM_000253.4):c.2217+185A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99613325A>T" "" "benign" "" "0000521011" "0" "30" "4" "100534554" "100534554" "subst" "0" "02330" "MTTP_000200" "g.100534554T>G" "" "" "" "MTTP(NM_000253.4):c.2217+257T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99613397T>G" "" "likely benign" "" "0000521012" "0" "10" "4" "100539896" "100539896" "subst" "0" "02330" "MTTP_000201" "g.100539896T>C" "" "" "" "MTTP(NM_000253.4):c.2218-235T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99618739T>C" "" "benign" "" "0000521013" "0" "10" "4" "100540099" "100540099" "subst" "0.0432804" "02330" "MTTP_000202" "g.100540099T>G" "" "" "" "MTTP(NM_000253.4):c.2218-32T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99618942T>G" "" "benign" "" "0000521014" "0" "30" "4" "100540122" "100540122" "subst" "4.06471E-6" "02330" "MTTP_000203" "g.100540122T>C" "" "" "" "MTTP(NM_000253.4):c.2218-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99618965T>C" "" "likely benign" "" "0000521015" "0" "30" "4" "100540243" "100540243" "subst" "1.62538E-5" "01943" "MTTP_000204" "g.100540243G>A" "" "" "" "MTTP(NM_000253.3):c.2330G>A (p.R777Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99619086G>A" "" "likely benign" "" "0000521016" "0" "10" "4" "100542167" "100542167" "subst" "0" "02330" "MTTP_000205" "g.100542167A>T" "" "" "" "MTTP(NM_000253.4):c.2343-51A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99621010A>T" "" "benign" "" "0000521017" "0" "50" "4" "100542383" "100542383" "subst" "0" "02330" "MTTP_000206" "g.100542383A>G" "" "" "" "MTTP(NM_000253.4):c.2508A>G (p.P836=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99621226A>G" "" "VUS" "" "0000521018" "0" "10" "4" "100542482" "100542482" "subst" "0" "02330" "MTTP_000207" "g.100542482A>G" "" "" "" "MTTP(NM_000253.4):c.2513+94A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99621325A>G" "" "benign" "" "0000521019" "0" "10" "4" "100542578" "100542578" "subst" "0" "02330" "MTTP_000208" "g.100542578A>G" "" "" "" "MTTP(NM_000253.4):c.2513+190A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99621421A>G" "" "benign" "" "0000521020" "0" "10" "4" "100542581" "100542581" "del" "0" "02330" "MTTP_000209" "g.100542581del" "" "" "" "MTTP(NM_000253.4):c.2513+193delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99621424del" "" "benign" "" "0000521021" "0" "10" "4" "100543745" "100543745" "subst" "0" "02330" "MTTP_000210" "g.100543745A>G" "" "" "" "MTTP(NM_000253.4):c.2514-89A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99622588A>G" "" "benign" "" "0000521022" "0" "30" "4" "100543846" "100543846" "subst" "4.06405E-6" "02330" "MTTP_000211" "g.100543846A>G" "" "" "" "MTTP(NM_000253.4):c.2526A>G (p.K842=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99622689A>G" "" "likely benign" "" "0000521023" "0" "30" "4" "100543852" "100543852" "subst" "5.28369E-5" "02330" "MTTP_000212" "g.100543852C>T" "" "" "" "MTTP(NM_000253.4):c.2532C>T (p.Y844=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99622695C>T" "" "likely benign" "" "0000521024" "0" "50" "4" "100543898" "100543900" "del" "0" "02330" "MTTP_000213" "g.100543898_100543900del" "" "" "" "MTTP(NM_000253.4):c.2578_2580delGAA (p.E860del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99622741_99622743del" "" "VUS" "" "0000521025" "0" "50" "4" "100543904" "100543904" "subst" "3.65562E-5" "02330" "MTTP_000214" "g.100543904G>A" "" "" "" "MTTP(NM_000253.4):c.2584G>A (p.V862I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99622747G>A" "" "VUS" "" "0000521026" "0" "30" "4" "100543993" "100543993" "subst" "0.000596988" "02330" "MTTP_000215" "g.100543993C>T" "" "" "" "MTTP(NM_000253.3):c.2673C>T (p.S891=), MTTP(NM_000253.4):c.2673C>T (p.S891=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99622836C>T" "" "likely benign" "" "0000521027" "0" "30" "4" "100543993" "100543993" "subst" "0.000596988" "01943" "MTTP_000215" "g.100543993C>T" "" "" "" "MTTP(NM_000253.3):c.2673C>T (p.S891=), MTTP(NM_000253.4):c.2673C>T (p.S891=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99622836C>T" "" "likely benign" "" "0000521028" "0" "30" "4" "100544025" "100544025" "subst" "0" "02330" "MTTP_000216" "g.100544025A>C" "" "" "" "MTTP(NM_000253.4):c.*20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99622868A>C" "" "likely benign" "" "0000521029" "0" "30" "4" "100544118" "100544118" "subst" "0" "02330" "MTTP_000217" "g.100544118G>C" "" "" "" "MTTP(NM_000253.4):c.*113G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99622961G>C" "" "likely benign" "" "0000521030" "0" "10" "4" "100544188" "100544188" "subst" "0" "02330" "MTTP_000218" "g.100544188C>T" "" "" "" "MTTP(NM_000253.4):c.*183C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99623031C>T" "" "benign" "" "0000521031" "0" "30" "4" "100544284" "100544284" "subst" "0" "02330" "MTTP_000219" "g.100544284C>G" "" "" "" "MTTP(NM_000253.4):c.*279C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99623127C>G" "" "likely benign" "" "0000608923" "0" "70" "4" "100485340" "100485340" "dup" "0" "02330" "MTTP_000220" "g.100485340dup" "" "" "" "MTTP(NM_001300785.2):c.-243dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99564183dup" "" "likely pathogenic" "" "0000608924" "0" "50" "4" "100496119" "100496119" "subst" "1.62439E-5" "02325" "MTTP_000007" "g.100496119C>T" "" "" "" "MTTP(NM_000253.4):c.53C>T (p.S18F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99574962C>T" "" "VUS" "" "0000608925" "0" "30" "4" "100503124" "100503124" "subst" "0.000332992" "02330" "MTTP_000111" "g.100503124G>A" "" "" "" "MTTP(NM_000253.4):c.124G>A (p.V42I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99581967G>A" "" "likely benign" "" "0000608926" "0" "30" "4" "100503175" "100503175" "subst" "0" "01804" "MTTP_000221" "g.100503175A>G" "" "" "" "MTTP(NM_000253.2):c.175A>G (p.(Ile59Val)), MTTP(NM_000253.4):c.175A>G (p.I59V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99582018A>G" "" "likely benign" "" "0000608927" "0" "50" "4" "100503236" "100503236" "subst" "0" "02330" "MTTP_000222" "g.100503236T>G" "" "" "" "MTTP(NM_000253.4):c.236T>G (p.L79W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99582079T>G" "" "VUS" "" "0000608928" "0" "50" "4" "100503248" "100503248" "subst" "8.12367E-6" "02330" "MTTP_000223" "g.100503248C>T" "" "" "" "MTTP(NM_000253.4):c.248C>T (p.T83M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99582091C>T" "" "VUS" "" "0000608929" "0" "30" "4" "100512392" "100512392" "subst" "0.0102546" "01804" "MTTP_000056" "g.100512392G>A" "" "" "" "MTTP(NM_000253.2):c.502G>A (p.(Val168Ile)), MTTP(NM_000253.3):c.502G>A (p.V168I), MTTP(NM_000253.4):c.502G>A (p.V168I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99591235G>A" "" "likely benign" "" "0000608930" "0" "30" "4" "100513343" "100513343" "subst" "0" "02330" "MTTP_000225" "g.100513343A>T" "" "" "" "MTTP(NM_000253.4):c.758+396A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99592186A>T" "" "likely benign" "" "0000608931" "0" "30" "4" "100515985" "100515985" "subst" "5.28275E-5" "01943" "MTTP_000143" "g.100515985C>T" "" "" "" "MTTP(NM_000253.3):c.854C>T (p.T285M), MTTP(NM_000253.4):c.854C>T (p.T285M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99594828C>T" "" "likely benign" "" "0000608932" "0" "50" "4" "100516008" "100516008" "subst" "2.03232E-5" "02330" "MTTP_000226" "g.100516008G>T" "" "" "" "MTTP(NM_000253.3):c.877G>T (p.V293F), MTTP(NM_000253.4):c.877G>T (p.V293F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99594851G>T" "" "VUS" "" "0000608933" "0" "10" "4" "100518746" "100518746" "subst" "0" "02330" "MTTP_000227" "g.100518746A>T" "" "" "" "MTTP(NM_000253.4):c.1067+365A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99597589A>T" "" "benign" "" "0000608934" "0" "30" "4" "100521803" "100521803" "subst" "8.54172E-5" "02330" "MTTP_000229" "g.100521803T>C" "" "" "" "MTTP(NM_000253.4):c.1149T>C (p.S383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99600646T>C" "" "likely benign" "" "0000608935" "0" "50" "4" "100521865" "100521865" "subst" "0.000142472" "02330" "MTTP_000154" "g.100521865A>G" "" "" "" "MTTP(NM_000253.3):c.1211A>G (p.N404S), MTTP(NM_000253.4):c.1211A>G (p.N404S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99600708A>G" "" "VUS" "" "0000608936" "0" "30" "4" "100522457" "100522457" "dup" "0" "02330" "MTTP_000230" "g.100522457dup" "" "" "" "MTTP(NM_000253.4):c.1237-307dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99601300dup" "" "likely benign" "" "0000608937" "0" "30" "4" "100522460" "100522461" "ins" "0" "02330" "MTTP_000231" "g.100522460_100522461insACTCATACATAAAAATT" "" "" "" "MTTP(NM_000253.4):c.1237-304_1237-303insACTCATACATAAAAATT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99601303_99601304insACTCATACATAAAAATT" "" "likely benign" "" "0000608938" "0" "30" "4" "100522488" "100522497" "del" "0" "02330" "MTTP_000232" "g.100522488_100522497del" "" "" "" "MTTP(NM_000253.4):c.1237-276_1237-267delTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99601331_99601340del" "" "likely benign" "" "0000608939" "0" "30" "4" "100522545" "100522630" "del" "0" "02330" "MTTP_000233" "g.100522545_100522630del" "" "" "" "MTTP(NM_000253.4):c.1237-219_1237-134del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99601388_99601473del" "" "likely benign" "" "0000608940" "0" "30" "4" "100533101" "100533101" "subst" "0" "02330" "MTTP_000235" "g.100533101C>A" "" "" "" "MTTP(NM_000253.4):c.1989+491C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99611944C>A" "" "likely benign" "" "0000608941" "0" "10" "4" "100533659" "100533659" "subst" "0" "02330" "MTTP_000236" "g.100533659C>T" "" "" "" "MTTP(NM_000253.4):c.1990-411C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99612502C>T" "" "benign" "" "0000608942" "0" "30" "4" "100534063" "100534063" "subst" "0" "02330" "MTTP_000237" "g.100534063T>C" "" "" "" "MTTP(NM_000253.4):c.1990-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99612906T>C" "" "likely benign" "" "0000608943" "0" "50" "4" "100540243" "100540243" "subst" "4.06345E-6" "02330" "MTTP_000238" "g.100540243G>T" "" "" "" "MTTP(NM_000253.4):c.2330G>T (p.R777L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99619086G>T" "" "VUS" "" "0000608944" "0" "30" "4" "100542253" "100542253" "subst" "2.43914E-5" "01804" "MTTP_000239" "g.100542253A>C" "" "" "" "MTTP(NM_000253.2):c.2378A>C (p.(Asp793Ala)), MTTP(NM_000253.4):c.2378A>C (p.D793A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99621096A>C" "" "likely benign" "" "0000608945" "0" "30" "4" "100542581" "100542581" "dup" "0" "02330" "MTTP_000240" "g.100542581dup" "" "" "" "MTTP(NM_000253.4):c.2513+193dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99621424dup" "" "likely benign" "" "0000621325" "0" "30" "4" "100510796" "100510796" "subst" "2.44008E-5" "02330" "MTTP_000224" "g.100510796C>T" "" "" "" "MTTP(NM_000253.4):c.394-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99589639C>T" "" "likely benign" "" "0000621326" "0" "30" "4" "100521758" "100521758" "subst" "0" "02330" "MTTP_000228" "g.100521758C>T" "" "" "" "MTTP(NM_000253.4):c.1104C>T (p.T368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99600601C>T" "" "likely benign" "" "0000621327" "0" "30" "4" "100532309" "100532309" "subst" "0" "02330" "MTTP_000234" "g.100532309C>T" "" "" "" "MTTP(NM_000253.4):c.1779C>T (p.V593=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99611152C>T" "" "likely benign" "" "0000651354" "1" "50" "4" "100512392" "100512392" "subst" "0.0102546" "03575" "MTTP_000056" "g.100512392G>A" "59/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 59 heterozygous; {DB:CLININrs61750974}" "Germline" "" "rs61750974" "0" "" "" "g.99591235G>A" "" "VUS" "" "0000651355" "1" "30" "4" "100530143" "100530143" "subst" "0.043292" "03575" "MTTP_000032" "g.100530143C>T" "143/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "143 heterozygous; {DB:CLININrs34734558}" "Germline" "" "rs34734558" "0" "" "" "g.99608986C>T" "" "likely benign" "" "0000651356" "1" "50" "4" "100532602" "100532602" "subst" "0.0268919" "03575" "MTTP_000038" "g.100532602G>A" "17/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 17 heterozygous, no homozygous; {DB:CLININrs113337987}" "Germline" "" "rs113337987" "0" "" "" "g.99611445G>A" "" "VUS" "" "0000655041" "0" "50" "4" "100496047" "100496047" "subst" "2.03069E-5" "02330" "MTTP_000241" "g.100496047G>A" "" "" "" "MTTP(NM_000253.4):c.-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99574890G>A" "" "VUS" "" "0000655042" "0" "50" "4" "100503173" "100503173" "subst" "2.84282E-5" "02330" "MTTP_000242" "g.100503173G>A" "" "" "" "MTTP(NM_000253.4):c.173G>A (p.R58H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99582016G>A" "" "VUS" "" "0000655043" "0" "30" "4" "100510896" "100510896" "subst" "0.00113916" "02330" "MTTP_000243" "g.100510896A>G" "" "" "" "MTTP(NM_000253.3):c.490A>G (p.T164A), MTTP(NM_000253.4):c.490A>G (p.T164A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99589739A>G" "" "likely benign" "" "0000655044" "0" "30" "4" "100516008" "100516008" "subst" "2.03232E-5" "01943" "MTTP_000226" "g.100516008G>T" "" "" "" "MTTP(NM_000253.3):c.877G>T (p.V293F), MTTP(NM_000253.4):c.877G>T (p.V293F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99594851G>T" "" "likely benign" "" "0000655045" "0" "30" "4" "100518286" "100518286" "subst" "0.000207459" "02330" "MTTP_000244" "g.100518286G>A" "" "" "" "MTTP(NM_000253.4):c.972G>A (p.E324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99597129G>A" "" "likely benign" "" "0000655046" "0" "30" "4" "100530096" "100530096" "subst" "0.000603372" "02330" "MTTP_000245" "g.100530096C>T" "" "" "" "MTTP(NM_000253.3):c.1731C>T (p.A577=), MTTP(NM_000253.4):c.1731C>T (p.A577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99608939C>T" "" "likely benign" "" "0000655047" "0" "30" "4" "100530096" "100530096" "subst" "0.000603372" "01943" "MTTP_000245" "g.100530096C>T" "" "" "" "MTTP(NM_000253.3):c.1731C>T (p.A577=), MTTP(NM_000253.4):c.1731C>T (p.A577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99608939C>T" "" "likely benign" "" "0000655048" "0" "50" "4" "100543919" "100543919" "subst" "0" "02330" "MTTP_000246" "g.100543919G>C" "" "" "" "MTTP(NM_000253.4):c.2599G>C (p.E867Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99622762G>C" "" "VUS" "" "0000669782" "3" "50" "4" "100512392" "100512392" "subst" "0.0102546" "03575" "MTTP_000056" "g.100512392G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs61750974}" "Germline" "" "rs61750974" "0" "" "" "g.99591235G>A" "" "VUS" "" "0000669783" "3" "30" "4" "100530143" "100530143" "subst" "0.043292" "03575" "MTTP_000032" "g.100530143C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs34734558}" "Germline" "" "rs34734558" "0" "" "" "g.99608986C>T" "" "likely benign" "" "0000677116" "0" "30" "4" "100485524" "100485524" "subst" "0" "02330" "MTTP_000247" "g.100485524A>G" "" "" "" "MTTP(NM_000253.4):c.-102+130A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677117" "0" "50" "4" "100503100" "100503100" "subst" "4.06124E-6" "02330" "MTTP_000248" "g.100503100T>C" "" "" "" "MTTP(NM_000253.4):c.100T>C (p.Y34H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677118" "0" "30" "4" "100503130" "100503130" "subst" "3.24881E-5" "01943" "MTTP_000009" "g.100503130C>G" "" "" "" "MTTP(NM_000253.3):c.130C>G (p.L44V), MTTP(NM_000253.4):c.130C>G (p.L44V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677119" "0" "30" "4" "100503272" "100503272" "subst" "0.0273923" "02330" "MTTP_000249" "g.100503272A>G" "" "" "" "MTTP(NM_000253.4):c.249+23A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677120" "0" "10" "4" "100505137" "100505137" "subst" "0" "02330" "MTTP_000250" "g.100505137A>G" "" "" "" "MTTP(NM_000253.4):c.393+463A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000677121" "0" "50" "4" "100516006" "100516006" "subst" "4.06441E-6" "02330" "MTTP_000251" "g.100516006A>G" "" "" "" "MTTP(NM_000253.4):c.875A>G (p.Q292R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677122" "0" "10" "4" "100522497" "100522497" "dup" "0" "02330" "MTTP_000252" "g.100522497dup" "" "" "" "MTTP(NM_000253.4):c.1237-267dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000677123" "0" "10" "4" "100522498" "100522498" "subst" "0" "02330" "MTTP_000253" "g.100522498G>T" "" "" "" "MTTP(NM_000253.4):c.1237-266G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000677124" "0" "10" "4" "100529085" "100529085" "subst" "0" "02330" "MTTP_000254" "g.100529085C>T" "" "" "" "MTTP(NM_000253.4):c.1558-838C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000677125" "0" "50" "4" "100534205" "100534205" "subst" "0" "01943" "MTTP_000255" "g.100534205G>A" "" "" "" "MTTP(NM_000253.3):c.2125G>A (p.G709R), MTTP(NM_000253.4):c.2125G>A (p.G709R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677126" "0" "90" "4" "100534292" "100534292" "del" "0" "02325" "MTTP_000040" "g.100534292del" "" "" "" "MTTP(NM_000253.4):c.2212delT (p.S738Lfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000677127" "0" "10" "4" "100542623" "100542623" "subst" "0" "02330" "MTTP_000256" "g.100542623T>C" "" "" "" "MTTP(NM_000253.4):c.2513+235T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689169" "0" "30" "4" "100485262" "100485262" "subst" "0" "01943" "MTTP_000257" "g.100485262A>C" "" "" "" "MTTP(NM_001300785.1):c.10A>C (p.R4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689170" "0" "30" "4" "100510793" "100510793" "subst" "0.000142369" "01943" "MTTP_000054" "g.100510793C>T" "" "" "" "MTTP(NM_000253.3):c.394-7C>T, MTTP(NM_000253.4):c.394-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689171" "0" "50" "4" "100512875" "100512875" "subst" "1.63028E-5" "01943" "MTTP_000258" "g.100512875C>G" "" "" "" "MTTP(NM_000253.3):c.686C>G (p.A229G), MTTP(NM_000253.4):c.686C>G (p.A229G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689172" "0" "70" "4" "100515885" "100515885" "subst" "0" "02330" "MTTP_000021" "g.100515885T>G" "" "" "" "MTTP(NM_000253.3):c.759-5T>G, MTTP(NM_000253.4):c.759-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000689173" "0" "30" "4" "100518337" "100518337" "subst" "0.000142357" "01943" "MTTP_000059" "g.100518337A>G" "" "" "" "MTTP(NM_000253.3):c.1023A>G (p.K341=), MTTP(NM_000253.4):c.1023A>G (p.K341=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689174" "0" "30" "4" "100530048" "100530048" "subst" "0" "02330" "MTTP_000259" "g.100530048G>T" "" "" "" "MTTP(NM_000253.4):c.1683G>T (p.L561=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689175" "0" "30" "4" "100532498" "100532498" "subst" "0.000142244" "02330" "MTTP_000260" "g.100532498G>A" "" "" "" "MTTP(NM_000253.3):c.1877G>A (p.R626H), MTTP(NM_000253.4):c.1877G>A (p.R626H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689176" "0" "30" "4" "100534050" "100534050" "subst" "2.44371E-5" "02330" "MTTP_000261" "g.100534050A>G" "" "" "" "MTTP(NM_000253.4):c.1990-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719661" "0" "30" "4" "100503162" "100503162" "subst" "2.43667E-5" "02330" "MTTP_000262" "g.100503162C>T" "" "" "" "MTTP(NM_000253.4):c.162C>T (p.S54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719662" "0" "50" "4" "100512426" "100512426" "subst" "8.12929E-6" "02330" "MTTP_000263" "g.100512426A>G" "" "" "" "MTTP(NM_000253.4):c.536A>G (p.Q179R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719663" "0" "50" "4" "100512483" "100512483" "subst" "0" "02330" "MTTP_000264" "g.100512483G>A" "" "" "" "MTTP(NM_000253.4):c.593G>A (p.R198K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719664" "0" "90" "4" "100529984" "100529984" "subst" "8.13326E-6" "02327" "MTTP_000088" "g.100529984G>A" "" "" "" "MTTP(NM_000253.4):c.1619G>A (p.R540H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000719665" "0" "50" "4" "100532395" "100532395" "subst" "0" "02330" "MTTP_000265" "g.100532395A>G" "" "" "" "MTTP(NM_000253.4):c.1865A>G (p.E622G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719666" "0" "90" "4" "100532610" "100532610" "subst" "4.07126E-6" "02327" "MTTP_000266" "g.100532610G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000786951" "3" "70" "4" "100521746" "100521746" "del" "0" "00006" "MTTP_000267" "g.100521746del" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.99600589del" "" "likely pathogenic" "" "0000788517" "0" "50" "4" "100503124" "100503124" "subst" "0.000332992" "00000" "MTTP_000111" "g.100503124G>A" "" "{PMID:Katagiri 2014:25268133}" "" "G124A" "" "Germline" "" "" "0" "" "" "g.99581967G>A" "" "VUS" "" "0000801410" "0" "50" "4" "100512419" "100512419" "subst" "0" "02330" "MTTP_000268" "g.100512419A>G" "" "" "" "MTTP(NM_000253.4):c.529A>G (p.T177A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801411" "0" "30" "4" "100512906" "100512906" "subst" "0" "02330" "MTTP_000269" "g.100512906A>G" "" "" "" "MTTP(NM_000253.4):c.717A>G (p.G239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801412" "0" "30" "4" "100518331" "100518331" "subst" "2.84782E-5" "02330" "MTTP_000270" "g.100518331G>A" "" "" "" "MTTP(NM_000253.4):c.1017G>A (p.A339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801413" "0" "30" "4" "100518356" "100518356" "subst" "0" "02330" "MTTP_000271" "g.100518356C>T" "" "" "" "MTTP(NM_000253.4):c.1042C>T (p.L348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801414" "0" "30" "4" "100532284" "100532284" "subst" "0.000203186" "02330" "MTTP_000272" "g.100532284T>C" "" "" "" "MTTP(NM_000253.4):c.1770-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801415" "0" "50" "4" "100534224" "100534224" "subst" "3.25206E-5" "01943" "MTTP_000198" "g.100534224C>G" "" "" "" "MTTP(NM_000253.3):c.2144C>G (p.S715C), MTTP(NM_000253.4):c.2144C>G (p.S715C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801416" "0" "50" "4" "100534231" "100534231" "subst" "0" "02330" "MTTP_000273" "g.100534231G>C" "" "" "" "MTTP(NM_000253.4):c.2151G>C (p.M717I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801417" "0" "70" "4" "100534267" "100534267" "del" "0" "02330" "MTTP_000274" "g.100534267del" "" "" "" "MTTP(NM_000253.4):c.2187delA (p.G730Dfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000801418" "0" "30" "4" "100534270" "100534270" "subst" "4.88424E-5" "02330" "MTTP_000275" "g.100534270A>G" "" "" "" "MTTP(NM_000253.4):c.2190A>G (p.G730=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801419" "0" "30" "4" "100540145" "100540145" "subst" "2.43801E-5" "01943" "MTTP_000276" "g.100540145A>G" "" "" "" "MTTP(NM_000253.3):c.2232A>G (p.Q744=), MTTP(NM_000253.4):c.2232A>G (p.Q744=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000816286" "0" "50" "4" "100543913" "100543913" "subst" "0.000121851" "00000" "MTTP_000099" "g.100543913G>T" "" "{PMID:Zampaglione 2020:32037395}" "" "MTTP c.2593G>T, p.Gly865Ter" "unsolved" "Unknown" "?" "" "0" "" "" "g.99622756G>T" "" "VUS" "" "0000850440" "0" "10" "4" "100485244" "100485244" "subst" "0.155642" "02327" "MTTP_000065" "g.100485244G>C" "" "" "" "MTTP(NM_000253.4):c.-252G>C, TRMT10A(NM_152292.5):c.-732C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850441" "0" "10" "4" "100510768" "100510768" "subst" "0.0821347" "02330" "MTTP_000278" "g.100510768T>C" "" "" "" "MTTP(NM_000253.4):c.394-32T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850442" "0" "30" "4" "100518322" "100518322" "subst" "0" "02330" "MTTP_000280" "g.100518322C>T" "" "" "" "MTTP(NM_000253.4):c.1008C>T (p.L336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850443" "0" "50" "4" "100518367" "100518367" "subst" "0" "02330" "MTTP_000282" "g.100518367A>C" "" "" "" "MTTP(NM_000253.4):c.1053A>C (p.E351D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850444" "0" "50" "4" "100521762" "100521762" "subst" "0" "02330" "MTTP_000283" "g.100521762G>A" "" "" "" "MTTP(NM_000253.4):c.1108G>A (p.D370N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850445" "0" "30" "4" "100529757" "100529757" "subst" "0" "02330" "MTTP_000285" "g.100529757G>A" "" "" "" "MTTP(NM_000253.4):c.1558-166G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850446" "0" "70" "4" "100529984" "100529984" "subst" "8.13326E-6" "02330" "MTTP_000088" "g.100529984G>A" "" "" "" "MTTP(NM_000253.4):c.1619G>A (p.R540H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000850447" "0" "50" "4" "100530104" "100530104" "subst" "4.07973E-6" "02330" "MTTP_000287" "g.100530104A>G" "" "" "" "MTTP(NM_000253.4):c.1739A>G (p.Q580R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850448" "0" "30" "4" "100530139" "100530139" "subst" "0" "02330" "MTTP_000288" "g.100530139A>G" "" "" "" "MTTP(NM_000253.4):c.1769+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850449" "0" "30" "4" "100532498" "100532498" "subst" "0.000142244" "01943" "MTTP_000260" "g.100532498G>A" "" "" "" "MTTP(NM_000253.3):c.1877G>A (p.R626H), MTTP(NM_000253.4):c.1877G>A (p.R626H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850450" "0" "30" "4" "100534210" "100534210" "subst" "0" "02330" "MTTP_000291" "g.100534210C>T" "" "" "" "MTTP(NM_000253.4):c.2130C>T (p.Y710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850451" "0" "30" "4" "100534273" "100534273" "subst" "0" "02330" "MTTP_000293" "g.100534273T>C" "" "" "" "MTTP(NM_000253.4):c.2193T>C (p.L731=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850452" "0" "30" "4" "100534316" "100534319" "del" "0" "02330" "MTTP_000294" "g.100534316_100534319del" "" "" "" "MTTP(NM_000253.4):c.2217+19_2217+22delGAGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850453" "0" "30" "4" "100534381" "100534381" "subst" "0" "02330" "MTTP_000295" "g.100534381C>T" "" "" "" "MTTP(NM_000253.4):c.2217+84C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850454" "0" "50" "4" "100542322" "100542322" "subst" "0" "02330" "MTTP_000296" "g.100542322C>T" "" "" "" "MTTP(NM_000253.4):c.2447C>T (p.T816I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850455" "0" "30" "4" "100542378" "100542378" "subst" "0" "02330" "MTTP_000297" "g.100542378G>C" "" "" "" "MTTP(NM_000253.4):c.2503G>C (p.A835P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859162" "0" "30" "4" "100503186" "100503186" "subst" "4.06151E-5" "02330" "MTTP_000277" "g.100503186C>T" "" "" "" "MTTP(NM_000253.4):c.186C>T (p.N62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859163" "0" "30" "4" "100510896" "100510896" "subst" "0.00113916" "01943" "MTTP_000243" "g.100510896A>G" "" "" "" "MTTP(NM_000253.3):c.490A>G (p.T164A), MTTP(NM_000253.4):c.490A>G (p.T164A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859164" "0" "10" "4" "100512018" "100512021" "del" "0" "02330" "MTTP_000279" "g.100512018_100512021del" "" "" "" "MTTP(NM_000253.4):c.502-374_502-371delACAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859165" "0" "50" "4" "100518333" "100518333" "subst" "1.22032E-5" "02330" "MTTP_000281" "g.100518333A>G" "" "" "" "MTTP(NM_000253.4):c.1019A>G (p.K340R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859166" "0" "10" "4" "100529714" "100529714" "subst" "0" "02330" "MTTP_000284" "g.100529714C>T" "" "" "" "MTTP(NM_000253.4):c.1558-209C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859167" "0" "50" "4" "100530056" "100530056" "subst" "1.62763E-5" "02330" "MTTP_000089" "g.100530056T>C" "" "" "" "MTTP(NM_000253.4):c.1691T>C (p.I564T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859168" "0" "50" "4" "100530094" "100530094" "subst" "0" "02330" "MTTP_000286" "g.100530094G>A" "" "" "" "MTTP(NM_000253.4):c.1729G>A (p.A577T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859169" "0" "30" "4" "100533973" "100533973" "subst" "0" "02330" "MTTP_000289" "g.100533973C>A" "" "" "" "MTTP(NM_000253.4):c.1990-97C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859170" "0" "50" "4" "100534097" "100534097" "subst" "0" "02330" "MTTP_000290" "g.100534097G>A" "" "" "" "MTTP(NM_000253.4):c.2017G>A (p.A673T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859171" "0" "50" "4" "100534247" "100534247" "subst" "2.03328E-5" "01943" "MTTP_000292" "g.100534247G>A" "" "" "" "MTTP(NM_000253.3):c.2167G>A (p.D723N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859172" "0" "30" "4" "100542323" "100542323" "subst" "1.62533E-5" "01943" "MTTP_000062" "g.100542323A>G" "" "" "" "MTTP(NM_000253.3):c.2448A>G (p.T816=), MTTP(NM_000253.4):c.2448A>G (p.T816=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886035" "0" "50" "4" "100485372" "100485372" "subst" "0" "02330" "MTTP_000298" "g.100485372C>G" "" "" "" "MTTP(NM_001300785.2):c.-211C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886036" "0" "30" "4" "100495711" "100495711" "subst" "0" "02330" "MTTP_000299" "g.100495711C>T" "" "" "" "MTTP(NM_000253.4):c.-101-255C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886037" "0" "50" "4" "100496065" "100496065" "subst" "0" "02330" "MTTP_000300" "g.100496065A>G" "" "" "" "MTTP(NM_000253.4):c.-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886038" "0" "50" "4" "100503172" "100503172" "subst" "4.06111E-6" "02330" "MTTP_000301" "g.100503172C>T" "" "" "" "MTTP(NM_000253.4):c.172C>T (p.R58C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886039" "0" "50" "4" "100503175" "100503175" "subst" "0" "02330" "MTTP_000221" "g.100503175A>G" "" "" "" "MTTP(NM_000253.2):c.175A>G (p.(Ile59Val)), MTTP(NM_000253.4):c.175A>G (p.I59V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886040" "0" "30" "4" "100510918" "100510918" "subst" "1.2231E-5" "02330" "MTTP_000302" "g.100510918A>G" "" "" "" "MTTP(NM_000253.4):c.501+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886041" "0" "50" "4" "100512875" "100512875" "subst" "1.63028E-5" "02330" "MTTP_000258" "g.100512875C>G" "" "" "" "MTTP(NM_000253.3):c.686C>G (p.A229G), MTTP(NM_000253.4):c.686C>G (p.A229G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886042" "0" "30" "4" "100513183" "100513183" "subst" "0" "02330" "MTTP_000303" "g.100513183A>G" "" "" "" "MTTP(NM_000253.4):c.758+236A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886043" "0" "30" "4" "100518229" "100518229" "subst" "0.000170858" "02330" "MTTP_000304" "g.100518229G>A" "" "" "" "MTTP(NM_000253.4):c.915G>A (p.S305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886044" "0" "50" "4" "100518282" "100518282" "subst" "0" "02330" "MTTP_000305" "g.100518282C>A" "" "" "" "MTTP(NM_000253.4):c.968C>A (p.A323D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886045" "0" "30" "4" "100521403" "100521403" "subst" "0" "02330" "MTTP_000306" "g.100521403T>G" "" "" "" "MTTP(NM_000253.4):c.1068-319T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886046" "0" "50" "4" "100521825" "100521825" "subst" "1.22035E-5" "02330" "MTTP_000307" "g.100521825G>A" "" "" "" "MTTP(NM_000253.4):c.1171G>A (p.E391K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886047" "0" "50" "4" "100521835" "100521835" "subst" "0" "02330" "MTTP_000308" "g.100521835T>C" "" "" "" "MTTP(NM_000253.4):c.1181T>C (p.L394P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886048" "0" "30" "4" "100522496" "100522497" "del" "0" "02330" "MTTP_000309" "g.100522496_100522497del" "" "" "" "MTTP(NM_000253.4):c.1237-268_1237-267delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886049" "0" "50" "4" "100522807" "100522807" "subst" "0" "02330" "MTTP_000310" "g.100522807C>T" "" "" "" "MTTP(NM_000253.4):c.1280C>T (p.T427I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886050" "0" "30" "4" "100522865" "100522865" "subst" "0" "02330" "MTTP_000311" "g.100522865A>G" "" "" "" "MTTP(NM_000253.4):c.1338A>G (p.K446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886051" "0" "50" "4" "100528011" "100528011" "subst" "0" "02330" "MTTP_000312" "g.100528011A>G" "" "" "" "MTTP(NM_000253.4):c.1451A>G (p.E484G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886052" "0" "30" "4" "100532541" "100532541" "subst" "0" "02330" "MTTP_000313" "g.100532541T>C" "" "" "" "MTTP(NM_000253.4):c.1920T>C (p.S640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886053" "0" "50" "4" "100532594" "100532594" "subst" "8.13941E-6" "02330" "MTTP_000314" "g.100532594G>T" "" "" "" "MTTP(NM_000253.4):c.1973G>T (p.G658V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886054" "0" "50" "4" "100543848" "100543849" "del" "0" "02330" "MTTP_000315" "g.100543848_100543849del" "" "" "" "MTTP(NM_000253.4):c.2528_2529delAG (p.K843Ifs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000906026" "3" "90" "4" "100532313" "100532313" "subst" "0" "00006" "MTTP_000091" "g.100532313C>T" "1/73,755 controls" "{PMID:Reiner 2022:36459106}" "" "" "" "Germline" "" "" "0" "" "" "g.99611156C>T" "" "pathogenic (recessive)" "" "0000912008" "0" "50" "4" "100485269" "100485269" "subst" "0" "02330" "MTTP_000316" "g.100485269G>T" "" "" "" "MTTP(NM_001300785.2):c.-314G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912009" "0" "30" "4" "100504679" "100504679" "subst" "8.23289E-6" "02330" "MTTP_000317" "g.100504679A>G" "" "" "" "MTTP(NM_000253.4):c.393+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912010" "0" "50" "4" "100529929" "100529929" "subst" "8.13478E-6" "02330" "MTTP_000318" "g.100529929A>G" "" "" "" "MTTP(NM_000253.4):c.1564A>G (p.K522E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912011" "0" "30" "4" "100542329" "100542329" "subst" "7.31404E-5" "02330" "MTTP_000044" "g.100542329G>A" "" "" "" "MTTP(NM_000253.4):c.2454G>A (p.Q818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924018" "0" "30" "4" "100504668" "100504668" "subst" "0" "02330" "MTTP_000319" "g.100504668T>C" "" "" "" "MTTP(NM_000253.4):c.387T>C (p.H129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924019" "0" "30" "4" "100504684" "100504684" "subst" "2.47207E-5" "02330" "MTTP_000320" "g.100504684C>T" "" "" "" "MTTP(NM_000253.4):c.393+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924020" "0" "30" "4" "100518213" "100518213" "subst" "4.06815E-6" "02330" "MTTP_000321" "g.100518213A>G" "" "" "" "MTTP(NM_000253.4):c.910-11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924021" "0" "30" "4" "100532502" "100532502" "subst" "0" "02330" "MTTP_000322" "g.100532502G>A" "" "" "" "MTTP(NM_000253.4):c.1881G>A (p.S627=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924022" "0" "30" "4" "100532601" "100532601" "subst" "2.44238E-5" "02330" "MTTP_000323" "g.100532601C>T" "" "" "" "MTTP(NM_000253.4):c.1980C>T (p.H660=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924023" "0" "50" "4" "100540259" "100540259" "subst" "2.03209E-5" "02330" "MTTP_000324" "g.100540259A>G" "" "" "" "MTTP(NM_000253.4):c.2342+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928836" "0" "30" "4" "100518212" "100518212" "dup" "0" "02330" "MTTP_000325" "g.100518212dup" "" "" "" "MTTP(NM_000253.4):c.910-12dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928837" "0" "50" "4" "100522828" "100522828" "subst" "4.06785E-5" "02325" "MTTP_000326" "g.100522828C>T" "" "" "" "MTTP(NM_000253.4):c.1301C>T (p.T434I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928838" "0" "50" "4" "100528071" "100528071" "subst" "0" "02330" "MTTP_000327" "g.100528071C>G" "" "" "" "MTTP(NM_000253.4):c.1511C>G (p.A504G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928839" "0" "50" "4" "100532606" "100532606" "subst" "0.000138402" "02330" "MTTP_000328" "g.100532606G>C" "" "" "" "MTTP(NM_000253.4):c.1985G>C (p.S662T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928840" "0" "50" "4" "100534205" "100534205" "subst" "0" "02330" "MTTP_000255" "g.100534205G>A" "" "" "" "MTTP(NM_000253.3):c.2125G>A (p.G709R), MTTP(NM_000253.4):c.2125G>A (p.G709R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948228" "0" "30" "4" "100503263" "100503263" "subst" "0" "02330" "MTTP_000329" "g.100503263A>G" "" "" "" "MTTP(NM_000253.4):c.249+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948229" "0" "30" "4" "100516031" "100516031" "subst" "1.62653E-5" "02330" "MTTP_000330" "g.100516031A>G" "" "" "" "MTTP(NM_000253.4):c.900A>G (p.G300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948230" "0" "30" "4" "100532280" "100532280" "subst" "0" "02330" "MTTP_000331" "g.100532280T>C" "" "" "" "MTTP(NM_000253.4):c.1770-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948231" "0" "30" "4" "100532360" "100532360" "subst" "4.06154E-6" "02330" "MTTP_000332" "g.100532360G>A" "" "" "" "MTTP(NM_000253.4):c.1830G>A (p.R610=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948232" "0" "70" "4" "100534122" "100534122" "del" "0" "02330" "MTTP_000333" "g.100534122del" "" "" "" "MTTP(NM_000253.4):c.2042delA (p.E681Gfs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948233" "0" "50" "4" "100534224" "100534224" "subst" "0" "02330" "MTTP_000334" "g.100534224C>T" "" "" "" "MTTP(NM_000253.4):c.2144C>T (p.S715F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948234" "0" "30" "4" "100540145" "100540145" "subst" "2.43801E-5" "02330" "MTTP_000276" "g.100540145A>G" "" "" "" "MTTP(NM_000253.3):c.2232A>G (p.Q744=), MTTP(NM_000253.4):c.2232A>G (p.Q744=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948235" "0" "50" "4" "100542253" "100542253" "subst" "2.43914E-5" "02330" "MTTP_000239" "g.100542253A>C" "" "" "" "MTTP(NM_000253.2):c.2378A>C (p.(Asp793Ala)), MTTP(NM_000253.4):c.2378A>C (p.D793A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962946" "0" "50" "4" "100485355" "100485358" "del" "0" "02330" "MTTP_000335" "g.100485355_100485358del" "" "" "" "MTTP(NM_000253.4):c.-141_-138delAAGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962947" "0" "30" "4" "100503111" "100503111" "subst" "0.000125892" "02330" "MTTP_000336" "g.100503111G>A" "" "" "" "MTTP(NM_000253.4):c.111G>A (p.T37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962948" "0" "30" "4" "100503132" "100503132" "subst" "0" "02330" "MTTP_000337" "g.100503132T>G" "" "" "" "MTTP(NM_000253.4):c.132T>G (p.L44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962950" "0" "30" "4" "100512521" "100512521" "subst" "7.73364E-5" "02330" "MTTP_000338" "g.100512521T>C" "" "" "" "MTTP(NM_000253.4):c.618+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962951" "0" "10" "4" "100521614" "100521614" "dup" "0" "02330" "MTTP_000339" "g.100521614dup" "" "" "" "MTTP(NM_000253.4):c.1068-108dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962952" "0" "30" "4" "100534150" "100534150" "subst" "0" "02330" "MTTP_000340" "g.100534150T>G" "" "" "" "MTTP(NM_000253.4):c.2070T>G (p.A690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962953" "0" "30" "4" "100543927" "100543927" "subst" "1.62463E-5" "02330" "MTTP_000341" "g.100543927G>A" "" "" "" "MTTP(NM_000253.4):c.2607G>A (p.P869=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976027" "0" "70" "4" "100480334" "100480334" "subst" "4.06501E-6" "01804" "MTTP_000342" "g.100480334C>T" "" "" "" "TRMT10A(NM_001134665.3):c.162G>A (p.(Trp54Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976028" "0" "30" "4" "100515914" "100515914" "subst" "6.90984E-5" "02330" "MTTP_000343" "g.100515914C>T" "" "" "" "MTTP(NM_000253.4):c.783C>T (p.T261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976029" "0" "30" "4" "100521705" "100521705" "subst" "4.06656E-6" "02330" "MTTP_000344" "g.100521705T>C" "" "" "" "MTTP(NM_000253.4):c.1068-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993974" "0" "90" "4" "100480417" "100480417" "subst" "8.1322E-5" "01804" "MTTP_000345" "g.100480417C>A" "" "" "" "TRMT10A(NM_152292.4):c.79G>T (p.(Glu27*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000993975" "0" "30" "4" "100512518" "100512518" "subst" "0" "02330" "MTTP_000346" "g.100512518A>T" "" "" "" "MTTP(NM_000253.4):c.618+10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993976" "0" "30" "4" "100515986" "100515986" "subst" "3.25095E-5" "02330" "MTTP_000347" "g.100515986G>A" "" "" "" "MTTP(NM_000253.4):c.855G>A (p.T285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993977" "0" "70" "4" "100529921" "100529921" "subst" "0" "01804" "MTTP_000348" "g.100529921A>G" "" "" "" "MTTP(NM_000253.2):c.1558-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000993978" "0" "50" "4" "100530095" "100530095" "subst" "0" "02330" "MTTP_000349" "g.100530095C>T" "" "" "" "MTTP(NM_000253.4):c.1730C>T (p.A577V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993979" "0" "50" "4" "100534106" "100534106" "subst" "8.1318E-6" "02330" "MTTP_000350" "g.100534106G>A" "" "" "" "MTTP(NM_000253.4):c.2026G>A (p.A676T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993980" "0" "50" "4" "100540236" "100540236" "subst" "4.06345E-6" "02330" "MTTP_000351" "g.100540236A>G" "" "" "" "MTTP(NM_000253.4):c.2323A>G (p.K775E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993981" "0" "50" "4" "100542286" "100542286" "subst" "0" "02330" "MTTP_000352" "g.100542286G>A" "" "" "" "MTTP(NM_000253.4):c.2411G>A (p.S804N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013919" "0" "50" "4" "100503137" "100503137" "subst" "1.62443E-5" "02330" "MTTP_000353" "g.100503137G>A" "" "" "" "MTTP(NM_000253.4):c.137G>A (p.R46Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013920" "0" "30" "4" "100521746" "100521746" "subst" "0" "02330" "MTTP_000354" "g.100521746C>T" "" "" "" "MTTP(NM_000253.4):c.1092C>T (p.T364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001021667" "11" "70" "4" "100532602" "100532602" "subst" "0.0268919" "00006" "MTTP_000038" "g.100532602G>A" "" "{PMID:Di Filippo 2019:30875496}" "" "" "" "Germline" "" "rs113337987" "0" "" "" "g.99611445G>A" "" "likely benign" "" "0001024869" "0" "30" "4" "100496061" "100496061" "subst" "0.00257479" "02330" "MTTP_000005" "g.100496061G>A" "" "" "" "MTTP(NM_000253.4):c.-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024870" "0" "50" "4" "100512459" "100512459" "subst" "0" "02330" "MTTP_000355" "g.100512459C>A" "" "" "" "MTTP(NM_000253.4):c.569C>A (p.A190D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024871" "0" "50" "4" "100512938" "100512938" "subst" "0" "02330" "MTTP_000356" "g.100512938T>C" "" "" "" "MTTP(NM_000253.4):c.749T>C (p.I250T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024872" "0" "30" "4" "100530033" "100530033" "subst" "4.06825E-5" "02330" "MTTP_000357" "g.100530033C>T" "" "" "" "MTTP(NM_000253.4):c.1668C>T (p.D556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034219" "0" "30" "4" "100485402" "100485402" "subst" "0" "02330" "MTTP_000358" "g.100485402T>C" "" "" "" "MTTP(NM_000253.4):c.-102+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034220" "0" "50" "4" "100512495" "100512495" "subst" "8.13306E-6" "02330" "MTTP_000359" "g.100512495C>T" "" "" "" "MTTP(NM_000253.4):c.605C>T (p.T202M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034221" "0" "50" "4" "100521889" "100521889" "subst" "0" "02330" "MTTP_000360" "g.100521889T>C" "" "" "" "MTTP(NM_000253.4):c.1235T>C (p.I412T)" "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 MTTP ## Count = 436 "{{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}}" "0000246219" "00014061" "30" "552" "0" "552" "0" "c.552A>T" "r.(?)" "p.(Lys184Asn)" "" "0000246228" "00014061" "10" "1151" "0" "1151" "0" "c.1151A>C" "r.(?)" "p.(Asp384Ala)" "" "0000246231" "00014061" "10" "1023" "0" "1023" "0" "c.1023A>G" "r.(?)" "p.(Lys341=)" "" "0000246232" "00014061" "10" "1707" "0" "1707" "0" "c.1707A>G" "r.(?)" "p.(Gln569=)" "" "0000246253" "00014061" "10" "2636" "0" "2636" "0" "c.2636A>G" "r.(?)" "p.(Lys879Arg)" "" "0000246254" "00014061" "10" "497" "0" "497" "0" "c.497A>G" "r.(?)" "p.(Asn166Ser)" "" "0000246266" "00014061" "30" "2448" "0" "2448" "0" "c.2448A>G" "r.(?)" "p.(Thr816=)" "" "0000246275" "00014061" "30" "419" "0" "419" "0" "c.419A>G" "r.(?)" "p.(Asn140Ser)" "" "0000246277" "00014061" "30" "2516" "0" "2516" "0" "c.2516A>T" "r.(?)" "p.(Gln839Leu)" "" "0000246278" "00014061" "70" "2051" "0" "2051" "0" "c.2051A>G" "r.(?)" "p.(Glu684Gly)" "" "0000246280" "00014061" "90" "88" "0" "88" "0" "c.88A>T" "r.(?)" "p.(Asn30Tyr)" "" "0000246281" "00014061" "90" "393" "3" "393" "3" "c.393+3A>T" "r.spl?" "p.?" "" "0000246282" "00014061" "90" "2218" "-2" "2218" "-2" "c.2218-2A>G" "r.spl?" "p.?" "" "0000246285" "00014061" "50" "1288" "0" "1288" "0" "c.1288A>G" "r.(?)" "p.(Ile430Val)" "" "0000246286" "00014061" "50" "1388" "0" "1388" "0" "c.1388A>C" "r.(?)" "p.(Lys463Thr)" "" "0000248394" "00014061" "10" "1151" "0" "1151" "0" "c.1151A>C" "r.(?)" "p.(Asp384Ala)" "" "0000254180" "00014061" "30" "552" "0" "552" "0" "c.552A>T" "r.(?)" "p.(Lys184Asn)" "" "0000280105" "00014061" "10" "-252" "0" "-252" "0" "c.-252G>C" "r.(?)" "p.(=)" "" "0000280106" "00014061" "70" "1016" "0" "1016" "0" "c.1016C>A" "r.(?)" "p.(Ala339Glu)" "" "0000280107" "00014061" "30" "130" "0" "130" "0" "c.130C>G" "r.(?)" "p.(Leu44Val)" "" "0000280108" "00014061" "10" "136" "0" "136" "0" "c.136C>G" "r.(?)" "p.(Arg46Gly)" "" "0000280109" "00014061" "90" "154" "0" "154" "0" "c.154C>T" "r.(?)" "p.(Gln52Ter)" "" "0000280110" "00014061" "30" "1557" "7" "1557" "7" "c.1557+7T>A" "r.(=)" "p.(=)" "" "0000280111" "00014061" "10" "1769" "14" "1769" "14" "c.1769+14C>T" "r.(=)" "p.(=)" "" "0000280112" "00014061" "10" "1769" "9" "1769" "9" "c.1769+9C>T" "r.(=)" "p.(=)" "" "0000280113" "00014061" "70" "1784" "0" "1784" "0" "c.1784G>C" "r.(?)" "p.(Arg595Pro)" "" "0000280114" "00014061" "30" "1843" "0" "1845" "0" "c.1843_1845del" "r.(?)" "p.(Ser615del)" "" "0000280115" "00014061" "70" "1867" "0" "1867" "0" "c.1867C>T" "r.(?)" "p.(Arg623Cys)" "" "0000280116" "00014061" "30" "1868" "-18" "1868" "-18" "c.1868-18G>A" "r.(=)" "p.(=)" "" "0000280117" "00014061" "10" "1981" "0" "1981" "0" "c.1981G>A" "r.(?)" "p.(Gly661Ser)" "" "0000280118" "00014061" "30" "2043" "0" "2043" "0" "c.2043G>A" "r.(?)" "p.(Glu681=)" "" "0000280119" "00014061" "70" "2212" "0" "2212" "0" "c.2212del" "r.(?)" "p.(Ser738LeufsTer10)" "" "0000280120" "00014061" "30" "2313" "0" "2313" "0" "c.2313T>C" "r.(?)" "p.(Tyr771=)" "" "0000280121" "00014061" "10" "2433" "0" "2433" "0" "c.2433G>C" "r.(?)" "p.(Leu811Phe)" "" "0000280122" "00014061" "10" "2513" "13" "2513" "13" "c.2513+13G>A" "r.(=)" "p.(=)" "" "0000280123" "00014061" "30" "2657" "0" "2657" "0" "c.2657C>T" "r.(?)" "p.(Pro886Leu)" "" "0000280124" "00014061" "50" "2674" "0" "2674" "0" "c.2674G>A" "r.(?)" "p.(Gly892Arg)" "" "0000280125" "00014061" "10" "285" "0" "285" "0" "c.285G>C" "r.(?)" "p.(Gln95His)" "" "0000280126" "00014061" "10" "294" "0" "294" "0" "c.294G>C" "r.(?)" "p.(Glu98Asp)" "" "0000280127" "00014061" "30" "-214" "0" "-214" "0" "c.-214G>A" "r.(?)" "p.(=)" "" "0000280128" "00014061" "10" "383" "0" "383" "0" "c.383T>C" "r.(?)" "p.(Ile128Thr)" "" "0000280129" "00014061" "30" "393" "11" "393" "11" "c.393+11G>A" "r.(=)" "p.(=)" "" "0000280130" "00014061" "30" "394" "-7" "394" "-7" "c.394-7C>T" "r.(=)" "p.(=)" "" "0000280131" "00014061" "10" "39" "0" "39" "0" "c.39C>G" "r.(?)" "p.(Ser13=)" "" "0000280132" "00014061" "10" "-241" "0" "-241" "0" "c.-241G>A" "r.(?)" "p.(=)" "" "0000280133" "00014061" "10" "453" "0" "453" "0" "c.453T>C" "r.(?)" "p.(Gly151=)" "" "0000280134" "00014061" "30" "502" "-12" "502" "-12" "c.502-12C>T" "r.(=)" "p.(=)" "" "0000280135" "00014061" "10" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Val168Ile)" "" "0000280136" "00014061" "70" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Ser18Phe)" "" "0000280137" "00014061" "30" "591" "0" "591" "0" "c.591G>A" "r.(?)" "p.(Ala197=)" "" "0000280138" "00014061" "50" "62" "0" "62" "0" "c.62G>T" "r.(?)" "p.(Gly21Val)" "" "0000280139" "00014061" "10" "660" "0" "660" "0" "c.660T>C" "r.(?)" "p.(Tyr220=)" "" "0000280140" "00014061" "10" "730" "0" "730" "0" "c.730C>G" "r.(?)" "p.(Gln244Glu)" "" "0000280141" "00014061" "50" "769" "0" "769" "0" "c.769G>C" "r.(?)" "p.(Glu257Gln)" "" "0000280142" "00014061" "10" "803" "0" "803" "0" "c.803T>C" "r.(?)" "p.(Met268Thr)" "" "0000280144" "00014061" "10" "891" "0" "891" "0" "c.891C>G" "r.(?)" "p.(His297Gln)" "" "0000280145" "00014061" "10" "933" "0" "933" "0" "c.933C>A" "r.(?)" "p.(Thr311=)" "" "0000280146" "00014061" "30" "95" "0" "95" "0" "c.95G>A" "r.(?)" "p.(Arg32Gln)" "" "0000280147" "00014061" "10" "969" "0" "969" "0" "c.969T>C" "r.(?)" "p.(Ala323=)" "" "0000282680" "00014061" "30" "-6" "0" "-6" "0" "c.-6G>A" "r.(?)" "p.(=)" "" "0000282681" "00014061" "50" "1016" "0" "1016" "0" "c.1016C>A" "r.(?)" "p.(Ala339Glu)" "" "0000282682" "00014061" "10" "136" "0" "136" "0" "c.136C>G" "r.(?)" "p.(Arg46Gly)" "" "0000282683" "00014061" "30" "2454" "0" "2454" "0" "c.2454G>A" "r.(?)" "p.(Gln818=)" "" "0000282684" "00014061" "30" "2513" "13" "2513" "13" "c.2513+13G>A" "r.(=)" "p.(=)" "" "0000282685" "00014061" "30" "2657" "0" "2657" "0" "c.2657C>T" "r.(?)" "p.(Pro886Leu)" "" "0000282686" "00014061" "30" "-214" "0" "-214" "0" "c.-214G>A" "r.(?)" "p.(=)" "" "0000282687" "00014061" "30" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Thr123Met)" "" "0000282689" "00014061" "30" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Val168Ile)" "" "0000286702" "00014061" "10" "1769" "14" "1769" "14" "c.1769+14C>T" "r.(=)" "p.(=)" "" "0000286703" "00014061" "10" "1981" "0" "1981" "0" "c.1981G>A" "r.(?)" "p.(Gly661Ser)" "" "0000286704" "00014061" "30" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Val168Ile)" "" "0000286705" "00014061" "10" "730" "0" "730" "0" "c.730C>G" "r.(?)" "p.(Gln244Glu)" "" "0000292142" "00014061" "50" "1016" "0" "1016" "0" "c.1016C>A" "r.(?)" "p.(Ala339Glu)" "" "0000292143" "00014061" "30" "2433" "0" "2433" "0" "c.2433G>C" "r.(?)" "p.(Leu811Phe)" "" "0000292144" "00014061" "30" "2657" "0" "2657" "0" "c.2657C>T" "r.(?)" "p.(Pro886Leu)" "" "0000292145" "00014061" "50" "759" "-5" "759" "-5" "c.759-5T>G" "r.spl?" "p.?" "" "0000436536" "00014061" "90" "1868" "0" "1868" "0" "c.1868G>T" "r.[(1867_1868ins1867+1_1868-1,1868_1895del,1868G>T)]" "p.[(Ser264fs,Arg623PrfsTer2,Arg623Leu)]" "15" "0000436537" "00014061" "90" "1067" "1217" "1141" "0" "c.1067+1217_1141del" "r.(1068_1236del)" "p.(Pro357fs)" "9i_10" "0000437580" "00014061" "90" "619" "0" "619" "0" "c.619G>T" "r.619_758del" "p.Val207Alafs*28" "7" "0000437581" "00014061" "90" "619" "0" "619" "0" "c.619G>T" "r.619_758del" "p.Val207Alafs*28" "7" "0000437582" "00014061" "90" "1237" "-28" "1237" "-28" "c.1237-28A>G" "r.1237_1344del" "p.Ser413_Lys448del" "10i" "0000437583" "00014061" "90" "1237" "-28" "1237" "-28" "c.1237-28A>G" "r.1237_1344del" "p.Ser413_Lys448del" "10i" "0000437584" "00014061" "90" "2338" "0" "2338" "0" "c.2338A>T" "r.(?)" "p.(Asn780Tyr)" "17" "0000437585" "00014061" "90" "1769" "0" "1769" "0" "c.1769G>T" "r.(?)" "p.(Ser590Ile)" "13" "0000437586" "00014061" "90" "2593" "0" "2593" "0" "c.2593G>T" "r.(?)" "p.(Gly865*)" "19" "0000437587" "00014061" "50" "383" "0" "383" "0" "c.383T>C" "r.(?)" "p.(Ile128Thr)" "4" "0000437588" "00014061" "90" "1691" "0" "1691" "0" "c.1691T>C" "r.(?)" "p.(Ile564Thr)" "13" "0000437589" "00014061" "90" "307" "0" "307" "0" "c.307A>T" "r.(?)" "p.(Lys103*)" "4" "0000437590" "00014061" "90" "1342" "0" "1342" "0" "c.1342A>T" "r.(?)" "p.(Lys448*)" "11" "0000437591" "00014061" "90" "1586" "0" "1586" "0" "c.1586A>G" "r.(?)" "p.(His529Arg)" "13" "0000437592" "00014061" "90" "1619" "0" "1619" "0" "c.1619G>A" "r.(?)" "p.(Arg540His)" "13" "0000437593" "00014061" "90" "2524" "0" "2524" "0" "c.2524A>T" "r.(?)" "p.(Lys842*)" "19" "0000437594" "00014061" "50" "1151" "0" "1151" "0" "c.1151A>C" "r.(?)" "p.(Asp384Ala)" "10" "0000437595" "00014061" "90" "2237" "0" "2237" "0" "c.2237G>A" "r.(?)" "p.(Gly746Glu)" "17" "0000437596" "00014061" "50" "1982" "0" "1982" "0" "c.1982G>C" "r.(?)" "p.(Gly661Ala)" "15" "0000437597" "00014061" "90" "1783" "0" "1783" "0" "c.1783C>T" "r.(?)" "p.(Arg595*)" "14" "0000437598" "00014061" "50" "136" "0" "136" "0" "c.136C>G" "r.(?)" "p.(Arg46Gly)" "3" "0000437599" "00014061" "90" "582" "0" "582" "0" "c.582C>A" "r.(?)" "p.(Cys194*)" "6" "0000437600" "00014061" "90" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Trp308*)" "9" "0000437601" "00014061" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000437602" "00014061" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000437603" "00014061" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000437604" "00014061" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000437605" "00014061" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000437606" "00014061" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000437607" "00014061" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000437608" "00014061" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000437609" "00014061" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000437610" "00014061" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000437611" "00014061" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000437612" "00014061" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000437613" "00014061" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000437614" "00014061" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000437615" "00014061" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000437616" "00014061" "90" "1229" "0" "1231" "0" "c.1229_1231delinsT" "r.(?)" "p.(Ala410Valfs*3)" "10" "0000437617" "00014061" "90" "2212" "0" "2212" "0" "c.2212del" "r.(?)" "p.(Ser738Leufs*10)" "16" "0000437618" "00014061" "90" "1820" "0" "1820" "0" "c.1820del" "r.(?)" "p.(Arg607Leufs*15)" "14" "0000437619" "00014061" "90" "1389" "0" "1389" "0" "c.1389del" "r.(?)" "p.(Ala464Glnfs*14)" "12" "0000437620" "00014061" "90" "398" "0" "399" "0" "c.398_399del" "r.(?)" "p.(Lys133Argfs*8)" "5" "0000437621" "00014061" "90" "1344" "5" "1344" "11" "c.1344+5_1344+11del" "r.spl" "p.?" "11i" "0000437622" "00014061" "90" "59" "0" "61" "14" "c.59_61+14del" "r.spl" "p.?" "2" "0000437623" "00014061" "90" "215" "0" "215" "0" "c.215del" "r.(?)" "p.(Pro72Leufs*8)" "3" "0000437624" "00014061" "90" "1147" "0" "1147" "0" "c.1147del" "r.(?)" "p.(Ser383Valfs*26)" "10" "0000437625" "00014061" "90" "1401" "0" "1401" "0" "c.1401dup" "r.(?)" "p.(Glu468Argfs*45)" "12" "0000437626" "00014061" "90" "2347" "0" "2350" "0" "c.2347_2350dup" "r.(?)" "p.(Val784Aspfs*7)" "18" "0000437627" "00014061" "90" "419" "0" "419" "0" "c.419dup" "r.(?)" "p.(Asn140Lysfs*2)" "5" "0000437628" "00014061" "90" "910" "-1" "910" "-1" "c.910-1G>T" "r.spl" "p.(Leu304Thrfs*28)" "" "0000437629" "00014061" "90" "1392" "0" "1392" "0" "c.1392del" "r.(?)" "p.(Glu465Argfs*13)" "" "0000437630" "00014061" "90" "1655" "0" "1655" "0" "c.1655C>T" "r.(?)" "p.(Pro552Leu)" "" "0000437631" "00014061" "90" "1067" "1217" "1141" "0" "c.1067+1217_1141del" "r.(1068_1236del)" "p.(Pro357Phefs*4)" "9i_10" "0000437632" "00014061" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000437633" "00014061" "90" "2445" "0" "2445" "0" "c.2445del" "r.(?)" "p.(Thr816Glnfs*10)" "" "0000437634" "00014061" "90" "154" "0" "154" "0" "c.154C>T" "r.(?)" "p.(Gln52*)" "" "0000437635" "00014061" "90" "2218" "-2" "2218" "-2" "c.2218-2A>G" "r.spl" "p.(Glu740Glyfs*8)" "" "0000437636" "00014061" "90" "1392" "0" "1392" "0" "c.1392del" "r.(?)" "p.(Glu465Argfs*13)" "" "0000520907" "00014061" "30" "-5065" "0" "-5065" "0" "c.-5065T>C" "r.(?)" "p.(=)" "" "0000520908" "00014061" "50" "-240" "0" "-240" "0" "c.-240G>A" "r.(?)" "p.(=)" "" "0000520909" "00014061" "30" "-214" "0" "-214" "0" "c.-214G>A" "r.(?)" "p.(=)" "" "0000520910" "00014061" "50" "-212" "0" "-212" "0" "c.-212G>A" "r.(?)" "p.(=)" "" "0000520911" "00014061" "30" "-212" "0" "-212" "0" "c.-212G>A" "r.(?)" "p.(=)" "" "0000520912" "00014061" "50" "-162" "0" "-161" "0" "c.-162_-161insACG" "r.(?)" "p.(=)" "" "0000520913" "00014061" "10" "-101" "-149" "-101" "-149" "c.-101-149T>C" "r.(=)" "p.(=)" "" "0000520914" "00014061" "50" "43" "0" "43" "0" "c.43T>C" "r.(?)" "p.(Tyr15His)" "" "0000520915" "00014061" "10" "50" "0" "50" "0" "c.50C>T" "r.(?)" "p.(Ala17Val)" "" "0000520916" "00014061" "30" "61" "136" "61" "137" "c.61+136_61+137del" "r.(=)" "p.(=)" "" "0000520917" "00014061" "10" "62" "-315" "62" "-315" "c.62-315T>C" "r.(=)" "p.(=)" "" "0000520918" "00014061" "10" "62" "-275" "62" "-275" "c.62-275del" "r.(=)" "p.(=)" "" "0000520919" "00014061" "10" "62" "-240" "62" "-240" "c.62-240G>T" "r.(=)" "p.(=)" "" "0000520920" "00014061" "50" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Val42Ile)" "" "0000520922" "00014061" "30" "146" "0" "146" "0" "c.146G>A" "r.(?)" "p.(Gly49Glu)" "" "0000520923" "00014061" "30" "393" "234" "393" "234" "c.393+234G>A" "r.(=)" "p.(=)" "" "0000520924" "00014061" "10" "393" "311" "393" "311" "c.393+311G>A" "r.(=)" "p.(=)" "" "0000520925" "00014061" "10" "393" "336" "393" "336" "c.393+336A>G" "r.(=)" "p.(=)" "" "0000520926" "00014061" "30" "394" "-309" "394" "-309" "c.394-309G>T" "r.(=)" "p.(=)" "" "0000520927" "00014061" "10" "394" "-250" "394" "-250" "c.394-250G>A" "r.(=)" "p.(=)" "" "0000520928" "00014061" "70" "399" "0" "399" "0" "c.399dup" "r.(?)" "p.(Glu134ArgfsTer8)" "" "0000520929" "00014061" "30" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Ser161Asn)" "" "0000520930" "00014061" "30" "501" "108" "501" "108" "c.501+108G>A" "r.(=)" "p.(=)" "" "0000520931" "00014061" "10" "501" "347" "501" "347" "c.501+347C>T" "r.(=)" "p.(=)" "" "0000520932" "00014061" "30" "501" "363" "501" "363" "c.501+363dup" "r.(=)" "p.(=)" "" "0000520933" "00014061" "10" "502" "-443" "502" "-443" "c.502-443C>T" "r.(=)" "p.(=)" "" "0000520934" "00014061" "10" "502" "-377" "502" "-377" "c.502-377del" "r.(=)" "p.(=)" "" "0000520935" "00014061" "30" "502" "-376" "502" "-371" "c.502-376_502-371del" "r.(=)" "p.(=)" "" "0000520936" "00014061" "10" "502" "-374" "502" "-374" "c.502-374del" "r.(=)" "p.(=)" "" "0000520937" "00014061" "10" "502" "-372" "502" "-371" "c.502-372_502-371del" "r.(=)" "p.(=)" "" "0000520938" "00014061" "10" "502" "-370" "502" "-370" "c.502-370del" "r.(=)" "p.(=)" "" "0000520939" "00014061" "10" "502" "-254" "502" "-254" "c.502-254C>T" "r.(=)" "p.(=)" "" "0000520940" "00014061" "10" "502" "-42" "502" "-42" "c.502-42C>T" "r.(=)" "p.(=)" "" "0000520941" "00014061" "30" "502" "-17" "502" "-17" "c.502-17C>G" "r.(=)" "p.(=)" "" "0000520942" "00014061" "70" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Cys174Tyr)" "" "0000520943" "00014061" "10" "522" "0" "522" "0" "c.522T>C" "r.(?)" "p.(Cys174=)" "" "0000520944" "00014061" "50" "702" "0" "702" "0" "c.702A>C" "r.(?)" "p.(Glu234Asp)" "" "0000520945" "00014061" "30" "758" "13" "758" "13" "c.758+13T>C" "r.(=)" "p.(=)" "" "0000520946" "00014061" "10" "758" "95" "758" "98" "c.758+95_758+98del" "r.(=)" "p.(=)" "" "0000520947" "00014061" "30" "758" "97" "758" "98" "c.758+97_758+98del" "r.(=)" "p.(=)" "" "0000520948" "00014061" "10" "759" "-116" "759" "-116" "c.759-116A>G" "r.(=)" "p.(=)" "" "0000520949" "00014061" "30" "759" "-13" "759" "-13" "c.759-13del" "r.(=)" "p.(=)" "" "0000520950" "00014061" "30" "799" "0" "799" "0" "c.799T>C" "r.(?)" "p.(Leu267=)" "" "0000520951" "00014061" "30" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Ala274Thr)" "" "0000520952" "00014061" "50" "833" "0" "833" "0" "c.833A>G" "r.(?)" "p.(Lys278Arg)" "" "0000520953" "00014061" "30" "854" "0" "854" "0" "c.854C>T" "r.(?)" "p.(Thr285Met)" "" "0000520954" "00014061" "10" "909" "340" "909" "340" "c.909+340T>A" "r.(=)" "p.(=)" "" "0000520955" "00014061" "30" "1014" "0" "1014" "0" "c.1014T>C" "r.(?)" "p.(Thr338=)" "" "0000520956" "00014061" "10" "1067" "102" "1067" "102" "c.1067+102A>T" "r.(=)" "p.(=)" "" "0000520957" "00014061" "30" "1067" "333" "1067" "333" "c.1067+333T>G" "r.(=)" "p.(=)" "" "0000520958" "00014061" "10" "1068" "-108" "1068" "-108" "c.1068-108del" "r.(=)" "p.(=)" "" "0000520959" "00014061" "10" "1068" "-85" "1068" "-85" "c.1068-85C>T" "r.(=)" "p.(=)" "" "0000520960" "00014061" "30" "1068" "-84" "1068" "-84" "c.1068-84C>T" "r.(=)" "p.(=)" "" "0000520961" "00014061" "30" "1068" "-10" "1068" "-10" "c.1068-10T>A" "r.(=)" "p.(=)" "" "0000520962" "00014061" "30" "1068" "-5" "1068" "-5" "c.1068-5del" "r.spl?" "p.?" "" "0000520963" "00014061" "50" "1147" "0" "1147" "0" "c.1147A>T" "r.(?)" "p.(Ser383Cys)" "" "0000520964" "00014061" "30" "1211" "0" "1211" "0" "c.1211A>G" "r.(?)" "p.(Asn404Ser)" "" "0000520965" "00014061" "30" "1237" "-267" "1237" "-267" "c.1237-267del" "r.(=)" "p.(=)" "" "0000520966" "00014061" "10" "1237" "-225" "1237" "-225" "c.1237-225T>G" "r.(=)" "p.(=)" "" "0000520967" "00014061" "10" "1237" "-172" "1237" "-172" "c.1237-172C>T" "r.(=)" "p.(=)" "" "0000520968" "00014061" "30" "1237" "-85" "1237" "-85" "c.1237-85G>A" "r.(=)" "p.(=)" "" "0000520969" "00014061" "70" "1256" "0" "1256" "0" "c.1256T>C" "r.(?)" "p.(Ile419Thr)" "" "0000520970" "00014061" "30" "1345" "-77" "1345" "-77" "c.1345-77C>T" "r.(=)" "p.(=)" "" "0000520971" "00014061" "30" "1345" "-15" "1345" "-15" "c.1345-15T>C" "r.(=)" "p.(=)" "" "0000520972" "00014061" "30" "1345" "-14" "1345" "-14" "c.1345-14A>G" "r.(=)" "p.(=)" "" "0000520973" "00014061" "30" "1401" "0" "1401" "0" "c.1401A>G" "r.(?)" "p.(Lys467=)" "" "0000520974" "00014061" "30" "1419" "0" "1419" "0" "c.1419T>C" "r.(?)" "p.(Tyr473=)" "" "0000520975" "00014061" "30" "1495" "0" "1495" "0" "c.1495C>A" "r.(?)" "p.(Pro499Thr)" "" "0000520976" "00014061" "10" "1557" "47" "1557" "48" "c.1557+47_1557+48dup" "r.(=)" "p.(=)" "" "0000520977" "00014061" "10" "1557" "48" "1557" "48" "c.1557+48del" "r.(=)" "p.(=)" "" "0000520978" "00014061" "10" "1557" "48" "1557" "48" "c.1557+48dup" "r.(=)" "p.(=)" "" "0000520979" "00014061" "10" "1557" "191" "1557" "196" "c.1557+191_1557+196del" "r.(=)" "p.(=)" "" "0000520980" "00014061" "10" "1557" "264" "1557" "264" "c.1557+264C>T" "r.(=)" "p.(=)" "" "0000520981" "00014061" "30" "1557" "292" "1557" "292" "c.1557+292T>C" "r.(=)" "p.(=)" "" "0000520982" "00014061" "30" "1595" "0" "1595" "0" "c.1595G>A" "r.(?)" "p.(Arg532His)" "" "0000520983" "00014061" "30" "1715" "0" "1715" "0" "c.1715A>G" "r.(?)" "p.(Asn572Ser)" "" "0000520984" "00014061" "30" "1728" "0" "1728" "0" "c.1728C>T" "r.(?)" "p.(Leu576=)" "" "0000520985" "00014061" "70" "1769" "1" "1769" "1" "c.1769+1G>T" "r.spl?" "p.?" "" "0000520986" "00014061" "10" "1769" "413" "1769" "413" "c.1769+413A>G" "r.(=)" "p.(=)" "" "0000520987" "00014061" "30" "1769" "452" "1769" "452" "c.1769+452G>A" "r.(=)" "p.(=)" "" "0000520988" "00014061" "10" "1770" "-303" "1770" "-303" "c.1770-303C>A" "r.(=)" "p.(=)" "" "0000520989" "00014061" "10" "1770" "-68" "1770" "-68" "c.1770-68del" "r.(=)" "p.(=)" "" "0000520990" "00014061" "10" "1770" "-47" "1770" "-47" "c.1770-47A>T" "r.(=)" "p.(=)" "" "0000520991" "00014061" "10" "1770" "-10" "1770" "-10" "c.1770-10T>C" "r.(=)" "p.(=)" "" "0000520992" "00014061" "30" "1770" "-10" "1770" "-10" "c.1770-10T>C" "r.(=)" "p.(=)" "" "0000520993" "00014061" "30" "1770" "-8" "1770" "-8" "c.1770-8T>C" "r.(=)" "p.(=)" "" "0000520994" "00014061" "30" "1867" "19" "1867" "19" "c.1867+19G>A" "r.(=)" "p.(=)" "" "0000520995" "00014061" "10" "1867" "36" "1867" "36" "c.1867+36C>T" "r.(=)" "p.(=)" "" "0000520996" "00014061" "50" "1883" "0" "1883" "0" "c.1883C>T" "r.(?)" "p.(Ala628Val)" "" "0000520997" "00014061" "30" "1989" "7" "1989" "7" "c.1989+7C>T" "r.(=)" "p.(=)" "" "0000520998" "00014061" "10" "1989" "27" "1989" "27" "c.1989+27T>C" "r.(=)" "p.(=)" "" "0000520999" "00014061" "10" "1989" "192" "1989" "192" "c.1989+192T>A" "r.(=)" "p.(=)" "" "0000521000" "00014061" "10" "1990" "-348" "1990" "-348" "c.1990-348C>A" "r.(=)" "p.(=)" "" "0000521001" "00014061" "10" "1990" "-157" "1990" "-157" "c.1990-157C>T" "r.(=)" "p.(=)" "" "0000521002" "00014061" "10" "1990" "-29" "1990" "-29" "c.1990-29G>A" "r.(=)" "p.(=)" "" "0000521003" "00014061" "30" "1990" "-18" "1990" "-17" "c.1990-18_1990-17insTTT" "r.(=)" "p.(=)" "" "0000521004" "00014061" "10" "2025" "0" "2025" "0" "c.2025C>T" "r.(?)" "p.(Ile675=)" "" "0000521005" "00014061" "30" "2040" "0" "2040" "0" "c.2040C>T" "r.(?)" "p.(Asp680=)" "" "0000521006" "00014061" "50" "2041" "0" "2041" "0" "c.2041G>A" "r.(?)" "p.(Glu681Lys)" "" "0000521007" "00014061" "50" "2069" "0" "2069" "0" "c.2069C>T" "r.(?)" "p.(Ala690Val)" "" "0000521008" "00014061" "30" "2123" "0" "2123" "0" "c.2123A>G" "r.(?)" "p.(Asn708Ser)" "" "0000521009" "00014061" "50" "2144" "0" "2144" "0" "c.2144C>G" "r.(?)" "p.(Ser715Cys)" "" "0000521010" "00014061" "10" "2217" "185" "2217" "185" "c.2217+185A>T" "r.(=)" "p.(=)" "" "0000521011" "00014061" "30" "2217" "257" "2217" "257" "c.2217+257T>G" "r.(=)" "p.(=)" "" "0000521012" "00014061" "10" "2218" "-235" "2218" "-235" "c.2218-235T>C" "r.(=)" "p.(=)" "" "0000521013" "00014061" "10" "2218" "-32" "2218" "-32" "c.2218-32T>G" "r.(=)" "p.(=)" "" "0000521014" "00014061" "30" "2218" "-9" "2218" "-9" "c.2218-9T>C" "r.(=)" "p.(=)" "" "0000521015" "00014061" "30" "2330" "0" "2330" "0" "c.2330G>A" "r.(?)" "p.(Arg777Gln)" "" "0000521016" "00014061" "10" "2343" "-51" "2343" "-51" "c.2343-51A>T" "r.(=)" "p.(=)" "" "0000521017" "00014061" "50" "2508" "0" "2508" "0" "c.2508A>G" "r.(?)" "p.(Pro836=)" "" "0000521018" "00014061" "10" "2513" "94" "2513" "94" "c.2513+94A>G" "r.(=)" "p.(=)" "" "0000521019" "00014061" "10" "2513" "190" "2513" "190" "c.2513+190A>G" "r.(=)" "p.(=)" "" "0000521020" "00014061" "10" "2513" "193" "2513" "193" "c.2513+193del" "r.(=)" "p.(=)" "" "0000521021" "00014061" "10" "2514" "-89" "2514" "-89" "c.2514-89A>G" "r.(=)" "p.(=)" "" "0000521022" "00014061" "30" "2526" "0" "2526" "0" "c.2526A>G" "r.(?)" "p.(Lys842=)" "" "0000521023" "00014061" "30" "2532" "0" "2532" "0" "c.2532C>T" "r.(?)" "p.(Tyr844=)" "" "0000521024" "00014061" "50" "2578" "0" "2580" "0" "c.2578_2580del" "r.(?)" "p.(Glu860del)" "" "0000521025" "00014061" "50" "2584" "0" "2584" "0" "c.2584G>A" "r.(?)" "p.(Val862Ile)" "" "0000521026" "00014061" "30" "2673" "0" "2673" "0" "c.2673C>T" "r.(?)" "p.(Ser891=)" "" "0000521027" "00014061" "30" "2673" "0" "2673" "0" "c.2673C>T" "r.(?)" "p.(Ser891=)" "" "0000521028" "00014061" "30" "2705" "0" "2705" "0" "c.*20A>C" "r.(=)" "p.(=)" "" "0000521029" "00014061" "30" "2798" "0" "2798" "0" "c.*113G>C" "r.(=)" "p.(=)" "" "0000521030" "00014061" "10" "2868" "0" "2868" "0" "c.*183C>T" "r.(=)" "p.(=)" "" "0000521031" "00014061" "30" "2964" "0" "2964" "0" "c.*279C>G" "r.(=)" "p.(=)" "" "0000608923" "00014061" "70" "-156" "0" "-156" "0" "c.-156dup" "r.(?)" "p.(=)" "" "0000608924" "00014061" "50" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Ser18Phe)" "" "0000608925" "00014061" "30" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Val42Ile)" "" "0000608926" "00014061" "30" "175" "0" "175" "0" "c.175A>G" "r.(?)" "p.(Ile59Val)" "" "0000608927" "00014061" "50" "236" "0" "236" "0" "c.236T>G" "r.(?)" "p.(Leu79Trp)" "" "0000608928" "00014061" "50" "248" "0" "248" "0" "c.248C>T" "r.(?)" "p.(Thr83Met)" "" "0000608929" "00014061" "30" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Val168Ile)" "" "0000608930" "00014061" "30" "758" "396" "758" "396" "c.758+396A>T" "r.(=)" "p.(=)" "" "0000608931" "00014061" "30" "854" "0" "854" "0" "c.854C>T" "r.(?)" "p.(Thr285Met)" "" "0000608932" "00014061" "50" "877" "0" "877" "0" "c.877G>T" "r.(?)" "p.(Val293Phe)" "" "0000608933" "00014061" "10" "1067" "365" "1067" "365" "c.1067+365A>T" "r.(=)" "p.(=)" "" "0000608934" "00014061" "30" "1149" "0" "1149" "0" "c.1149T>C" "r.(?)" "p.(Ser383=)" "" "0000608935" "00014061" "50" "1211" "0" "1211" "0" "c.1211A>G" "r.(?)" "p.(Asn404Ser)" "" "0000608936" "00014061" "30" "1237" "-307" "1237" "-307" "c.1237-307dup" "r.(=)" "p.(=)" "" "0000608937" "00014061" "30" "1237" "-304" "1237" "-303" "c.1237-304_1237-303insACTCATACATAAAAATT" "r.(=)" "p.(=)" "" "0000608938" "00014061" "30" "1237" "-276" "1237" "-267" "c.1237-276_1237-267del" "r.(=)" "p.(=)" "" "0000608939" "00014061" "30" "1237" "-219" "1237" "-134" "c.1237-219_1237-134del" "r.(=)" "p.(=)" "" "0000608940" "00014061" "30" "1989" "491" "1989" "491" "c.1989+491C>A" "r.(=)" "p.(=)" "" "0000608941" "00014061" "10" "1990" "-411" "1990" "-411" "c.1990-411C>T" "r.(=)" "p.(=)" "" "0000608942" "00014061" "30" "1990" "-7" "1990" "-7" "c.1990-7T>C" "r.(=)" "p.(=)" "" "0000608943" "00014061" "50" "2330" "0" "2330" "0" "c.2330G>T" "r.(?)" "p.(Arg777Leu)" "" "0000608944" "00014061" "30" "2378" "0" "2378" "0" "c.2378A>C" "r.(?)" "p.(Asp793Ala)" "" "0000608945" "00014061" "30" "2513" "193" "2513" "193" "c.2513+193dup" "r.(=)" "p.(=)" "" "0000621325" "00014061" "30" "394" "-4" "394" "-4" "c.394-4C>T" "r.spl?" "p.?" "" "0000621326" "00014061" "30" "1104" "0" "1104" "0" "c.1104C>T" "r.(?)" "p.(Thr368=)" "" "0000621327" "00014061" "30" "1779" "0" "1779" "0" "c.1779C>T" "r.(?)" "p.(Val593=)" "" "0000651354" "00014061" "50" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Val168Ile)" "" "0000651355" "00014061" "30" "1769" "9" "1769" "9" "c.1769+9C>T" "r.(=)" "p.(=)" "" "0000651356" "00014061" "50" "1981" "0" "1981" "0" "c.1981G>A" "r.(?)" "p.(Gly661Ser)" "" "0000655041" "00014061" "50" "-20" "0" "-20" "0" "c.-20G>A" "r.(?)" "p.(=)" "" "0000655042" "00014061" "50" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58His)" "" "0000655043" "00014061" "30" "490" "0" "490" "0" "c.490A>G" "r.(?)" "p.(Thr164Ala)" "" "0000655044" "00014061" "30" "877" "0" "877" "0" "c.877G>T" "r.(?)" "p.(Val293Phe)" "" "0000655045" "00014061" "30" "972" "0" "972" "0" "c.972G>A" "r.(?)" "p.(Glu324=)" "" "0000655046" "00014061" "30" "1731" "0" "1731" "0" "c.1731C>T" "r.(?)" "p.(Ala577=)" "" "0000655047" "00014061" "30" "1731" "0" "1731" "0" "c.1731C>T" "r.(?)" "p.(Ala577=)" "" "0000655048" "00014061" "50" "2599" "0" "2599" "0" "c.2599G>C" "r.(?)" "p.(Glu867Gln)" "" "0000669782" "00014061" "50" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Val168Ile)" "" "0000669783" "00014061" "30" "1769" "9" "1769" "9" "c.1769+9C>T" "r.(=)" "p.(=)" "" "0000677116" "00014061" "30" "-102" "130" "-102" "130" "c.-102+130A>G" "r.(=)" "p.(=)" "" "0000677117" "00014061" "50" "100" "0" "100" "0" "c.100T>C" "r.(?)" "p.(Tyr34His)" "" "0000677118" "00014061" "30" "130" "0" "130" "0" "c.130C>G" "r.(?)" "p.(Leu44Val)" "" "0000677119" "00014061" "30" "249" "23" "249" "23" "c.249+23A>G" "r.(=)" "p.(=)" "" "0000677120" "00014061" "10" "393" "463" "393" "463" "c.393+463A>G" "r.(=)" "p.(=)" "" "0000677121" "00014061" "50" "875" "0" "875" "0" "c.875A>G" "r.(?)" "p.(Gln292Arg)" "" "0000677122" "00014061" "10" "1237" "-267" "1237" "-267" "c.1237-267dup" "r.(=)" "p.(=)" "" "0000677123" "00014061" "10" "1237" "-266" "1237" "-266" "c.1237-266G>T" "r.(=)" "p.(=)" "" "0000677124" "00014061" "10" "1558" "-838" "1558" "-838" "c.1558-838C>T" "r.(=)" "p.(=)" "" "0000677125" "00014061" "50" "2125" "0" "2125" "0" "c.2125G>A" "r.(?)" "p.(Gly709Arg)" "" "0000677126" "00014061" "90" "2212" "0" "2212" "0" "c.2212del" "r.(?)" "p.(Ser738LeufsTer10)" "" "0000677127" "00014061" "10" "2513" "235" "2513" "235" "c.2513+235T>C" "r.(=)" "p.(=)" "" "0000689169" "00014061" "30" "-234" "0" "-234" "0" "c.-234A>C" "r.(?)" "p.(=)" "" "0000689170" "00014061" "30" "394" "-7" "394" "-7" "c.394-7C>T" "r.(=)" "p.(=)" "" "0000689171" "00014061" "50" "686" "0" "686" "0" "c.686C>G" "r.(?)" "p.(Ala229Gly)" "" "0000689172" "00014061" "70" "759" "-5" "759" "-5" "c.759-5T>G" "r.spl?" "p.?" "" "0000689173" "00014061" "30" "1023" "0" "1023" "0" "c.1023A>G" "r.(?)" "p.(Lys341=)" "" "0000689174" "00014061" "30" "1683" "0" "1683" "0" "c.1683G>T" "r.(?)" "p.(Leu561=)" "" "0000689175" "00014061" "30" "1877" "0" "1877" "0" "c.1877G>A" "r.(?)" "p.(Arg626His)" "" "0000689176" "00014061" "30" "1990" "-20" "1990" "-20" "c.1990-20A>G" "r.(=)" "p.(=)" "" "0000719661" "00014061" "30" "162" "0" "162" "0" "c.162C>T" "r.(?)" "p.(Ser54=)" "" "0000719662" "00014061" "50" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Gln179Arg)" "" "0000719663" "00014061" "50" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198Lys)" "" "0000719664" "00014061" "90" "1619" "0" "1619" "0" "c.1619G>A" "r.(?)" "p.(Arg540His)" "" "0000719665" "00014061" "50" "1865" "0" "1865" "0" "c.1865A>G" "r.(?)" "p.(Glu622Gly)" "" "0000719666" "00014061" "90" "1989" "0" "1989" "0" "c.1989G>A" "r.(?)" "p.(Gln663=)" "" "0000786951" "00014061" "70" "1092" "0" "1092" "0" "c.1092del" "r.(?)" "p.(Ser365LeufsTer8)" "10" "0000788517" "00014061" "50" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Val42Ile)" "3" "0000801410" "00014061" "50" "529" "0" "529" "0" "c.529A>G" "r.(?)" "p.(Thr177Ala)" "" "0000801411" "00014061" "30" "717" "0" "717" "0" "c.717A>G" "r.(?)" "p.(Gly239=)" "" "0000801412" "00014061" "30" "1017" "0" "1017" "0" "c.1017G>A" "r.(?)" "p.(Ala339=)" "" "0000801413" "00014061" "30" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Leu348=)" "" "0000801414" "00014061" "30" "1770" "-16" "1770" "-16" "c.1770-16T>C" "r.(=)" "p.(=)" "" "0000801415" "00014061" "50" "2144" "0" "2144" "0" "c.2144C>G" "r.(?)" "p.(Ser715Cys)" "" "0000801416" "00014061" "50" "2151" "0" "2151" "0" "c.2151G>C" "r.(?)" "p.(Met717Ile)" "" "0000801417" "00014061" "70" "2187" "0" "2187" "0" "c.2187del" "r.(?)" "p.(Gly730Aspfs*5)" "" "0000801418" "00014061" "30" "2190" "0" "2190" "0" "c.2190A>G" "r.(?)" "p.(Gly730=)" "" "0000801419" "00014061" "30" "2232" "0" "2232" "0" "c.2232A>G" "r.(?)" "p.(Gln744=)" "" "0000816286" "00014061" "50" "2593" "0" "2593" "0" "c.2593G>T" "r.(?)" "p.(Gly865*)" "" "0000850440" "00014061" "10" "-252" "0" "-252" "0" "c.-252G>C" "r.(?)" "p.(=)" "" "0000850441" "00014061" "10" "394" "-32" "394" "-32" "c.394-32T>C" "r.(=)" "p.(=)" "" "0000850442" "00014061" "30" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(Leu336=)" "" "0000850443" "00014061" "50" "1053" "0" "1053" "0" "c.1053A>C" "r.(?)" "p.(Glu351Asp)" "" "0000850444" "00014061" "50" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Asp370Asn)" "" "0000850445" "00014061" "30" "1558" "-166" "1558" "-166" "c.1558-166G>A" "r.(=)" "p.(=)" "" "0000850446" "00014061" "70" "1619" "0" "1619" "0" "c.1619G>A" "r.(?)" "p.(Arg540His)" "" "0000850447" "00014061" "50" "1739" "0" "1739" "0" "c.1739A>G" "r.(?)" "p.(Gln580Arg)" "" "0000850448" "00014061" "30" "1769" "5" "1769" "5" "c.1769+5A>G" "r.spl?" "p.?" "" "0000850449" "00014061" "30" "1877" "0" "1877" "0" "c.1877G>A" "r.(?)" "p.(Arg626His)" "" "0000850450" "00014061" "30" "2130" "0" "2130" "0" "c.2130C>T" "r.(?)" "p.(Tyr710=)" "" "0000850451" "00014061" "30" "2193" "0" "2193" "0" "c.2193T>C" "r.(?)" "p.(Leu731=)" "" "0000850452" "00014061" "30" "2217" "19" "2217" "22" "c.2217+19_2217+22del" "r.(=)" "p.(=)" "" "0000850453" "00014061" "30" "2217" "84" "2217" "84" "c.2217+84C>T" "r.(=)" "p.(=)" "" "0000850454" "00014061" "50" "2447" "0" "2447" "0" "c.2447C>T" "r.(?)" "p.(Thr816Ile)" "" "0000850455" "00014061" "30" "2503" "0" "2503" "0" "c.2503G>C" "r.(?)" "p.(Ala835Pro)" "" "0000859162" "00014061" "30" "186" "0" "186" "0" "c.186C>T" "r.(?)" "p.(Asn62=)" "" "0000859163" "00014061" "30" "490" "0" "490" "0" "c.490A>G" "r.(?)" "p.(Thr164Ala)" "" "0000859164" "00014061" "10" "502" "-374" "502" "-371" "c.502-374_502-371del" "r.(=)" "p.(=)" "" "0000859165" "00014061" "50" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Lys340Arg)" "" "0000859166" "00014061" "10" "1558" "-209" "1558" "-209" "c.1558-209C>T" "r.(=)" "p.(=)" "" "0000859167" "00014061" "50" "1691" "0" "1691" "0" "c.1691T>C" "r.(?)" "p.(Ile564Thr)" "" "0000859168" "00014061" "50" "1729" "0" "1729" "0" "c.1729G>A" "r.(?)" "p.(Ala577Thr)" "" "0000859169" "00014061" "30" "1990" "-97" "1990" "-97" "c.1990-97C>A" "r.(=)" "p.(=)" "" "0000859170" "00014061" "50" "2017" "0" "2017" "0" "c.2017G>A" "r.(?)" "p.(Ala673Thr)" "" "0000859171" "00014061" "50" "2167" "0" "2167" "0" "c.2167G>A" "r.(?)" "p.(Asp723Asn)" "" "0000859172" "00014061" "30" "2448" "0" "2448" "0" "c.2448A>G" "r.(?)" "p.(Thr816=)" "" "0000886035" "00014061" "50" "-124" "0" "-124" "0" "c.-124C>G" "r.(?)" "p.(=)" "" "0000886036" "00014061" "30" "-101" "-255" "-101" "-255" "c.-101-255C>T" "r.(=)" "p.(=)" "" "0000886037" "00014061" "50" "-2" "0" "-2" "0" "c.-2A>G" "r.(?)" "p.(=)" "" "0000886038" "00014061" "50" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Cys)" "" "0000886039" "00014061" "50" "175" "0" "175" "0" "c.175A>G" "r.(?)" "p.(Ile59Val)" "" "0000886040" "00014061" "30" "501" "11" "501" "11" "c.501+11A>G" "r.(=)" "p.(=)" "" "0000886041" "00014061" "50" "686" "0" "686" "0" "c.686C>G" "r.(?)" "p.(Ala229Gly)" "" "0000886042" "00014061" "30" "758" "236" "758" "236" "c.758+236A>G" "r.(=)" "p.(=)" "" "0000886043" "00014061" "30" "915" "0" "915" "0" "c.915G>A" "r.(?)" "p.(Ser305=)" "" "0000886044" "00014061" "50" "968" "0" "968" "0" "c.968C>A" "r.(?)" "p.(Ala323Asp)" "" "0000886045" "00014061" "30" "1068" "-319" "1068" "-319" "c.1068-319T>G" "r.(=)" "p.(=)" "" "0000886046" "00014061" "50" "1171" "0" "1171" "0" "c.1171G>A" "r.(?)" "p.(Glu391Lys)" "" "0000886047" "00014061" "50" "1181" "0" "1181" "0" "c.1181T>C" "r.(?)" "p.(Leu394Pro)" "" "0000886048" "00014061" "30" "1237" "-268" "1237" "-267" "c.1237-268_1237-267del" "r.(=)" "p.(=)" "" "0000886049" "00014061" "50" "1280" "0" "1280" "0" "c.1280C>T" "r.(?)" "p.(Thr427Ile)" "" "0000886050" "00014061" "30" "1338" "0" "1338" "0" "c.1338A>G" "r.(?)" "p.(Lys446=)" "" "0000886051" "00014061" "50" "1451" "0" "1451" "0" "c.1451A>G" "r.(?)" "p.(Glu484Gly)" "" "0000886052" "00014061" "30" "1920" "0" "1920" "0" "c.1920T>C" "r.(?)" "p.(Ser640=)" "" "0000886053" "00014061" "50" "1973" "0" "1973" "0" "c.1973G>T" "r.(?)" "p.(Gly658Val)" "" "0000886054" "00014061" "50" "2528" "0" "2529" "0" "c.2528_2529del" "r.(?)" "p.(Lys843Ilefs*24)" "" "0000906026" "00014061" "90" "1783" "0" "1783" "0" "c.1783C>T" "r.(?)" "p.(Arg595Ter)" "" "0000912008" "00014061" "50" "-227" "0" "-227" "0" "c.-227G>T" "r.(?)" "p.(=)" "" "0000912009" "00014061" "30" "393" "5" "393" "5" "c.393+5A>G" "r.spl?" "p.?" "" "0000912010" "00014061" "50" "1564" "0" "1564" "0" "c.1564A>G" "r.(?)" "p.(Lys522Glu)" "" "0000912011" "00014061" "30" "2454" "0" "2454" "0" "c.2454G>A" "r.(?)" "p.(Gln818=)" "" "0000924018" "00014061" "30" "387" "0" "387" "0" "c.387T>C" "r.(?)" "p.(His129=)" "" "0000924019" "00014061" "30" "393" "10" "393" "10" "c.393+10C>T" "r.(=)" "p.(=)" "" "0000924020" "00014061" "30" "910" "-11" "910" "-11" "c.910-11A>G" "r.(=)" "p.(=)" "" "0000924021" "00014061" "30" "1881" "0" "1881" "0" "c.1881G>A" "r.(?)" "p.(Ser627=)" "" "0000924022" "00014061" "30" "1980" "0" "1980" "0" "c.1980C>T" "r.(?)" "p.(His660=)" "" "0000924023" "00014061" "50" "2342" "4" "2342" "4" "c.2342+4A>G" "r.spl?" "p.?" "" "0000928836" "00014061" "30" "910" "-12" "910" "-12" "c.910-12dup" "r.(=)" "p.(=)" "" "0000928837" "00014061" "50" "1301" "0" "1301" "0" "c.1301C>T" "r.(?)" "p.(Thr434Ile)" "" "0000928838" "00014061" "50" "1511" "0" "1511" "0" "c.1511C>G" "r.(?)" "p.(Ala504Gly)" "" "0000928839" "00014061" "50" "1985" "0" "1985" "0" "c.1985G>C" "r.(?)" "p.(Ser662Thr)" "" "0000928840" "00014061" "50" "2125" "0" "2125" "0" "c.2125G>A" "r.(?)" "p.(Gly709Arg)" "" "0000948228" "00014061" "30" "249" "14" "249" "14" "c.249+14A>G" "r.(=)" "p.(=)" "" "0000948229" "00014061" "30" "900" "0" "900" "0" "c.900A>G" "r.(?)" "p.(=)" "" "0000948230" "00014061" "30" "1770" "-20" "1770" "-20" "c.1770-20T>C" "r.(=)" "p.(=)" "" "0000948231" "00014061" "30" "1830" "0" "1830" "0" "c.1830G>A" "r.(?)" "p.(=)" "" "0000948232" "00014061" "70" "2042" "0" "2042" "0" "c.2042del" "r.(?)" "p.(Glu681Glyfs*33)" "" "0000948233" "00014061" "50" "2144" "0" "2144" "0" "c.2144C>T" "r.(?)" "p.(Ser715Phe)" "" "0000948234" "00014061" "30" "2232" "0" "2232" "0" "c.2232A>G" "r.(?)" "p.(Gln744=)" "" "0000948235" "00014061" "50" "2378" "0" "2378" "0" "c.2378A>C" "r.(?)" "p.(Asp793Ala)" "" "0000962946" "00014061" "50" "-141" "0" "-138" "0" "c.-141_-138del" "r.(?)" "p.(=)" "" "0000962947" "00014061" "30" "111" "0" "111" "0" "c.111G>A" "r.(?)" "p.(=)" "" "0000962948" "00014061" "30" "132" "0" "132" "0" "c.132T>G" "r.(?)" "p.(=)" "" "0000962950" "00014061" "30" "618" "13" "618" "13" "c.618+13T>C" "r.(=)" "p.(=)" "" "0000962951" "00014061" "10" "1068" "-108" "1068" "-108" "c.1068-108dup" "r.(=)" "p.(=)" "" "0000962952" "00014061" "30" "2070" "0" "2070" "0" "c.2070T>G" "r.(?)" "p.(=)" "" "0000962953" "00014061" "30" "2607" "0" "2607" "0" "c.2607G>A" "r.(?)" "p.(=)" "" "0000976027" "00014061" "70" "-5162" "0" "-5162" "0" "c.-5162C>T" "r.(?)" "p.(=)" "" "0000976028" "00014061" "30" "783" "0" "783" "0" "c.783C>T" "r.(?)" "p.(=)" "" "0000976029" "00014061" "30" "1068" "-17" "1068" "-17" "c.1068-17T>C" "r.(=)" "p.(=)" "" "0000993974" "00014061" "90" "-5079" "0" "-5079" "0" "c.-5079C>A" "r.(?)" "p.(=)" "" "0000993975" "00014061" "30" "618" "10" "618" "10" "c.618+10A>T" "r.(=)" "p.(=)" "" "0000993976" "00014061" "30" "855" "0" "855" "0" "c.855G>A" "r.(?)" "p.(=)" "" "0000993977" "00014061" "70" "1558" "-2" "1558" "-2" "c.1558-2A>G" "r.spl?" "p.?" "" "0000993978" "00014061" "50" "1730" "0" "1730" "0" "c.1730C>T" "r.(?)" "p.(Ala577Val)" "" "0000993979" "00014061" "50" "2026" "0" "2026" "0" "c.2026G>A" "r.(?)" "p.(Ala676Thr)" "" "0000993980" "00014061" "50" "2323" "0" "2323" "0" "c.2323A>G" "r.(?)" "p.(Lys775Glu)" "" "0000993981" "00014061" "50" "2411" "0" "2411" "0" "c.2411G>A" "r.(?)" "p.(Ser804Asn)" "" "0001013919" "00014061" "50" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46Gln)" "" "0001013920" "00014061" "30" "1092" "0" "1092" "0" "c.1092C>T" "r.(?)" "p.(=)" "" "0001021667" "00014061" "70" "1981" "0" "1981" "0" "c.1981G>A" "r.(?)" "p.(Gly661Ser)" "15" "0001024869" "00014061" "30" "-6" "0" "-6" "0" "c.-6G>A" "r.(?)" "p.(=)" "" "0001024870" "00014061" "50" "569" "0" "569" "0" "c.569C>A" "r.(?)" "p.(Ala190Asp)" "" "0001024871" "00014061" "50" "749" "0" "749" "0" "c.749T>C" "r.(?)" "p.(Ile250Thr)" "" "0001024872" "00014061" "30" "1668" "0" "1668" "0" "c.1668C>T" "r.(?)" "p.(=)" "" "0001034219" "00014061" "30" "-102" "8" "-102" "8" "c.-102+8T>C" "r.(=)" "p.(=)" "" "0001034220" "00014061" "50" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Thr202Met)" "" "0001034221" "00014061" "50" "1235" "0" "1235" "0" "c.1235T>C" "r.(?)" "p.(Ile412Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 69 "{{screeningid}}" "{{variantid}}" "0000206890" "0000436536" "0000206890" "0000436537" "0000206890" "0001021667" "0000207872" "0000437580" "0000207872" "0000437582" "0000207873" "0000437581" "0000207873" "0000437583" "0000207874" "0000437584" "0000207875" "0000437585" "0000207876" "0000437586" "0000207877" "0000437587" "0000207878" "0000437588" "0000207879" "0000437589" "0000207880" "0000437590" "0000207881" "0000437591" "0000207882" "0000437592" "0000207883" "0000437593" "0000207884" "0000437594" "0000207885" "0000437595" "0000207886" "0000437596" "0000207887" "0000437597" "0000207888" "0000437598" "0000207889" "0000437599" "0000207890" "0000437600" "0000207891" "0000437601" "0000207892" "0000437602" "0000207893" "0000437603" "0000207894" "0000437604" "0000207895" "0000437605" "0000207896" "0000437606" "0000207897" "0000437607" "0000207898" "0000437608" "0000207899" "0000437609" "0000207900" "0000437610" "0000207901" "0000437611" "0000207902" "0000437612" "0000207903" "0000437613" "0000207904" "0000437614" "0000207905" "0000437615" "0000207906" "0000437616" "0000207907" "0000437617" "0000207908" "0000437618" "0000207909" "0000437619" "0000207910" "0000437620" "0000207911" "0000437621" "0000207912" "0000437622" "0000207913" "0000437623" "0000207914" "0000437624" "0000207915" "0000437625" "0000207916" "0000437626" "0000207917" "0000437627" "0000207918" "0000437628" "0000207919" "0000437629" "0000207920" "0000437630" "0000207921" "0000437631" "0000207922" "0000437632" "0000207922" "0000437633" "0000207923" "0000437634" "0000207923" "0000437635" "0000207924" "0000437636" "0000294665" "0000651354" "0000294666" "0000651355" "0000294667" "0000651356" "0000306094" "0000669782" "0000306095" "0000669783" "0000375600" "0000786951" "0000376632" "0000788517" "0000388128" "0000816286" "0000428303" "0000906026"