### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LRRFIP2) # 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}}" "LRRFIP2" "leucine rich repeat (in FLII) interacting protein 2" "3" "p22.1" "unknown" "NC_000003.11" "UD_132438987420" "" "https://www.LOVD.nl/LRRFIP2" "" "1" "6703" "9209" "614043" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/LRRFIP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-01-07 18:09:24" "00000" "2025-07-08 13:22:38" ## 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}}" "00011506" "LRRFIP2" "transcript variant 1" "003" "NM_006309.2" "" "NP_006300.1" "" "" "" "-423" "3391" "2166" "37217851" "37094117" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05464" "HNPCC (Lynch)" "cancer, colorectal, nonpolyposis, hereditary (Lynch syndrome)" "" "" "" "" "" "00006" "2018-08-02 08:56:34" "00006" "2025-07-24 09:00:47" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00263983" "" "" "" "12" "" "01164" "{PMID:Morak 2020:21712435}, {PMID:Arnold 2020:31822864}" "5-generation family, 12 affected (8F, 4M)" "F" "?" "Germany" "" "0" "" "" "Germany" "Pat1;50823" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00263983" "05464" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05464 ## Count = 1 "{{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}}" "0000201841" "05464" "00263983" "01164" "Familial, autosomal dominant" "" "CRC (MSI-H, loss MLH1/PMS2) at age 50y and 61y, mother died of CRC at age 37y, grandmother (ms) died of CRC at age 56y, sister endometrial cancer at age 42y and colon cancer at age 74y, other sister endometrial cancer at age 37y and colon cancer at age 42y and her daughter skin cancer, many more colon cancer and endometrial cancer cases in large family" "" "" "" "loss MLH1/PMS2" "MSI-H" "" "" "" "" "50y" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000265097" "00263983" "1" "01164" "01164" "2019-09-05 09:16:07" "00006" "2022-01-08 14:24:02" "PCR;RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "germline" "custom kit covering all exonic and intronic regions of the 4 MMR genes (publication Nissen et at., 2019)" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000265097" "LRRFIP2" "0000265097" "MLH1" "0000265097" "MSH2" "0000265097" "MSH6" "0000265097" "PMS2" ## 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 = 145 "{{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}}" "0000246100" "0" "30" "3" "37089131" "37089131" "subst" "0.00339583" "02330" "MLH1_000655" "g.37089131A>C" "" "" "" "MLH1(NM_000249.3):c.1853A>C (p.K618T, p.(Lys618Thr)), MLH1(NM_000249.4):c.1853A>C (p.K618T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37047640A>C" "" "likely benign" "" "0000247906" "0" "10" "3" "37089131" "37089131" "subst" "0.00339583" "02325" "MLH1_000655" "g.37089131A>C" "" "" "" "MLH1(NM_000249.3):c.1853A>C (p.K618T, p.(Lys618Thr)), MLH1(NM_000249.4):c.1853A>C (p.K618T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37047640A>C" "" "benign" "" "0000249929" "0" "30" "3" "37089131" "37089131" "subst" "0.00339583" "02329" "MLH1_000655" "g.37089131A>C" "" "" "" "MLH1(NM_000249.3):c.1853A>C (p.K618T, p.(Lys618Thr)), MLH1(NM_000249.4):c.1853A>C (p.K618T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37047640A>C" "" "likely benign" "" "0000253153" "0" "10" "3" "37089131" "37089131" "subst" "0.00339583" "01943" "MLH1_000655" "g.37089131A>C" "" "" "" "MLH1(NM_000249.3):c.1853A>C (p.K618T, p.(Lys618Thr)), MLH1(NM_000249.4):c.1853A>C (p.K618T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37047640A>C" "" "benign" "" "0000256407" "0" "50" "3" "37090045" "37090045" "subst" "0" "01943" "MLH1_001486" "g.37090045A>G" "" "" "" "MLH1(NM_000249.3):c.1934A>G (p.N645S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37048554A>G" "" "VUS" "" "0000279805" "0" "10" "3" "37090070" "37090070" "subst" "0.00834221" "02330" "MLH1_000712" "g.37090070G>T" "" "" "" "MLH1(NM_000249.2):c.1959G>T, MLH1(NM_000249.3):c.1959G>T (p.L653=, p.(Leu653=)), MLH1(NM_000249.4):c.1959G>T (p.L653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37048579G>T" "" "benign" "" "0000279806" "0" "30" "3" "37092019" "37092019" "subst" "0.00118778" "02330" "MLH1_000805" "g.37092019G>A" "" "" "" "MLH1(NM_000249.2):c.2146G>A, MLH1(NM_000249.3):c.2146G>A (p.V716M, p.(Val716Met)), MLH1(NM_000249.4):c.2146G>A (p.V716M), MLH1(NM_001258274.2):c.14..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37050528G>A" "" "likely benign" "" "0000279807" "0" "10" "3" "37092025" "37092025" "subst" "0.00545415" "02330" "MLH1_000780" "g.37092025C>T" "" "" "" "MLH1(NM_000249.2):c.2152C>T, MLH1(NM_000249.3):c.2152C>T (p.(His718Tyr)), MLH1(NM_000249.4):c.2152C>T (p.H718Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37050534C>T" "" "benign" "" "0000282524" "0" "50" "3" "37089117" "37089117" "subst" "0" "02325" "MLH1_001695" "g.37089117G>C" "" "" "" "MLH1(NM_000249.4):c.1839G>C (p.E613D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37047626G>C" "" "VUS" "" "0000282525" "0" "90" "3" "37089130" "37089132" "del" "0" "02325" "MLH1_001921" "g.37089130_37089132del" "" "" "" "MLH1(NM_000249.3):c.1852_1854del (p.(Lys618del)), MLH1(NM_000249.3):c.1852_1854delAAG (p.K618del), MLH1(NM_000249.4):c.1852_1854delAAG (p.K618del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37047639_37047641del" "" "pathogenic" "" "0000282526" "0" "90" "3" "37089174" "37089174" "subst" "0" "02325" "MLH1_000673" "g.37089174G>A" "" "" "" "MLH1(NM_000249.2):c.1896G>A, MLH1(NM_000249.3):c.1896G>A (p.E632=, p.(=)), MLH1(NM_000249.4):c.1896G>A (p.E632=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37047683G>A" "" "pathogenic" "" "0000282527" "0" "50" "3" "37090005" "37090005" "subst" "0" "02325" "MLH1_001932" "g.37090005C>G" "" "" "" "MLH1(NM_000249.4):c.1897-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37048514C>G" "" "VUS" "" "0000282529" "0" "30" "3" "37090070" "37090070" "subst" "0.00834221" "02325" "MLH1_000712" "g.37090070G>T" "" "" "" "MLH1(NM_000249.2):c.1959G>T, MLH1(NM_000249.3):c.1959G>T (p.L653=, p.(Leu653=)), MLH1(NM_000249.4):c.1959G>T (p.L653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37048579G>T" "" "likely benign" "" "0000282530" "0" "90" "3" "37090086" "37090086" "subst" "0" "02325" "MLH1_001582" "g.37090086C>T" "" "" "" "MLH1(NM_000249.4):c.1975C>T (p.R659*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37048595C>T" "" "pathogenic" "" "0000282532" "0" "90" "3" "37090506" "37090506" "subst" "0" "02325" "MLH1_001266" "g.37090506C>T" "" "" "" "MLH1(NM_000249.4):c.2101C>T (p.Q701*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37049015C>T" "" "pathogenic" "" "0000282534" "0" "30" "3" "37092019" "37092019" "subst" "0.00118778" "02325" "MLH1_000805" "g.37092019G>A" "" "" "" "MLH1(NM_000249.2):c.2146G>A, MLH1(NM_000249.3):c.2146G>A (p.V716M, p.(Val716Met)), MLH1(NM_000249.4):c.2146G>A (p.V716M), MLH1(NM_001258274.2):c.14..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37050528G>A" "" "likely benign" "" "0000283691" "0" "10" "3" "37090070" "37090070" "subst" "0.00834221" "02329" "MLH1_000712" "g.37090070G>T" "" "" "" "MLH1(NM_000249.2):c.1959G>T, MLH1(NM_000249.3):c.1959G>T (p.L653=, p.(Leu653=)), MLH1(NM_000249.4):c.1959G>T (p.L653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37048579G>T" "" "benign" "" "0000283692" "0" "90" "3" "37090392" "37090392" "subst" "0" "02329" "MLH1_000736" "g.37090392C>G" "" "" "" "MLH1(NM_000249.4):c.1990-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37048901C>G" "" "pathogenic" "" "0000283693" "0" "10" "3" "37092019" "37092019" "subst" "0.00118778" "02329" "MLH1_000805" "g.37092019G>A" "" "" "" "MLH1(NM_000249.2):c.2146G>A, MLH1(NM_000249.3):c.2146G>A (p.V716M, p.(Val716Met)), MLH1(NM_000249.4):c.2146G>A (p.V716M), MLH1(NM_001258274.2):c.14..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37050528G>A" "" "benign" "" "0000283694" "0" "10" "3" "37092025" "37092025" "subst" "0.00545415" "02329" "MLH1_000780" "g.37092025C>T" "" "" "" "MLH1(NM_000249.2):c.2152C>T, MLH1(NM_000249.3):c.2152C>T (p.(His718Tyr)), MLH1(NM_000249.4):c.2152C>T (p.H718Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37050534C>T" "" "benign" "" "0000286610" "0" "90" "3" "37089174" "37089174" "subst" "0" "02326" "MLH1_000673" "g.37089174G>A" "" "" "" "MLH1(NM_000249.2):c.1896G>A, MLH1(NM_000249.3):c.1896G>A (p.E632=, p.(=)), MLH1(NM_000249.4):c.1896G>A (p.E632=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37047683G>A" "" "pathogenic" "" "0000286611" "0" "90" "3" "37092044" "37092044" "subst" "0" "02326" "MLH1_001990" "g.37092044T>A" "" "" "" "MLH1(NM_000249.3):c.2171T>A (p.L724*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37050553T>A" "" "pathogenic" "" "0000287080" "0" "10" "3" "37090274" "37090274" "subst" "0" "02369" "MLH1_001237" "g.37090274C>T" "" "" "" "MLH1(NM_000249.3):c.1990-121C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37048783C>T" "" "benign" "" "0000287081" "0" "50" "3" "37092047" "37092047" "subst" "0.000191141" "02369" "MLH1_001487" "g.37092047G>A" "" "" "" "MLH1(NM_000249.3):c.2174G>A (p.R725H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37050556G>A" "" "VUS" "" "0000287082" "0" "90" "3" "37092068" "37092069" "del" "0" "02369" "MLH1_001991" "g.37092068_37092069del" "" "" "" "MLH1(NM_000249.3):c.2195_2196del (p.(Lys732ThrfsTer13)), MLH1(NM_000249.3):c.2195_2196delAA (p.K732Tfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37050577_37050578del" "" "pathogenic" "" "0000291863" "0" "30" "3" "37092179" "37092181" "del" "0" "01943" "MLH1_000813" "g.37092179_37092181del" "" "" "" "MLH1(NM_000249.3):c.*35_*37delCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37050688_37050690del" "" "likely benign" "" "0000291878" "0" "90" "3" "37089130" "37089132" "del" "0" "01943" "MLH1_000063" "g.37089130_37089132del" "" "" "" "MLH1(NM_000249.3):c.1852_1854del (p.(Lys618del)), MLH1(NM_000249.3):c.1852_1854delAAG (p.K618del), MLH1(NM_000249.4):c.1852_1854delAAG (p.K618del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37047639_37047641del" "" "pathogenic" "" "0000291879" "0" "90" "3" "37089174" "37089174" "subst" "0" "01943" "MLH1_000673" "g.37089174G>A" "" "" "" "MLH1(NM_000249.2):c.1896G>A, MLH1(NM_000249.3):c.1896G>A (p.E632=, p.(=)), MLH1(NM_000249.4):c.1896G>A (p.E632=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37047683G>A" "" "pathogenic" "" "0000291880" "0" "90" "3" "37090054" "37090054" "subst" "0" "01943" "MLH1_001504" "g.37090054C>T" "" "" "" "MLH1(NM_000249.3):c.1943C>T (p.P648L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37048563C>T" "" "pathogenic" "" "0000291882" "0" "10" "3" "37090070" "37090070" "subst" "0.00834221" "01943" "MLH1_000712" "g.37090070G>T" "" "" "" "MLH1(NM_000249.2):c.1959G>T, MLH1(NM_000249.3):c.1959G>T (p.L653=, p.(Leu653=)), MLH1(NM_000249.4):c.1959G>T (p.L653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37048579G>T" "" "benign" "" "0000291884" "0" "90" "3" "37090446" "37090446" "subst" "0" "01943" "MLH1_000737" "g.37090446G>A" "" "" "" "MLH1(NM_000249.3):c.2041G>A (p.A681T, p.(Ala681Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37048955G>A" "" "pathogenic" "" "0000291885" "0" "50" "3" "37090447" "37090447" "subst" "0" "01943" "MLH1_001251" "g.37090447C>T" "" "" "" "MLH1(NM_000249.3):c.2042C>T (p.A681V), MLH1(NM_000249.4):c.2042C>T (p.A681V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37048956C>T" "" "VUS" "" "0000291886" "0" "30" "3" "37092019" "37092019" "subst" "0.00118778" "01943" "MLH1_000805" "g.37092019G>A" "" "" "" "MLH1(NM_000249.2):c.2146G>A, MLH1(NM_000249.3):c.2146G>A (p.V716M, p.(Val716Met)), MLH1(NM_000249.4):c.2146G>A (p.V716M), MLH1(NM_001258274.2):c.14..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37050528G>A" "" "likely benign" "" "0000329308" "0" "10" "3" "37090070" "37090070" "subst" "0.00834221" "01804" "MLH1_000712" "g.37090070G>T" "" "" "" "MLH1(NM_000249.2):c.1959G>T, MLH1(NM_000249.3):c.1959G>T (p.L653=, p.(Leu653=)), MLH1(NM_000249.4):c.1959G>T (p.L653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37048579G>T" "" "benign" "" "0000337916" "0" "30" "3" "37089281" "37089281" "subst" "0" "02327" "MLH1_001931" "g.37089281C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37047790C>T" "" "likely benign" "" "0000337917" "0" "90" "3" "37090393" "37090393" "subst" "0" "02327" "MLH1_001985" "g.37090393A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37048902A>T" "" "pathogenic" "" "0000337918" "0" "90" "3" "37090509" "37090509" "subst" "0" "02327" "MLH1_000765" "g.37090509G>A" "" "" "" "MLH1(NM_000249.3):c.2103+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37049018G>A" "" "pathogenic" "" "0000337919" "0" "90" "3" "37091976" "37091976" "subst" "0" "02327" "MLH1_001857" "g.37091976G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37050485G>C" "" "pathogenic" "" "0000343218" "0" "90" "3" "37090086" "37090086" "subst" "0" "02327" "MLH1_001582" "g.37090086C>T" "" "" "" "MLH1(NM_000249.4):c.1975C>T (p.R659*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37048595C>T" "" "pathogenic" "" "0000343813" "0" "50" "3" "37090400" "37090400" "subst" "0" "02327" "MLH1_001986" "g.37090400T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37048909T>G" "" "VUS" "" "0000344934" "0" "10" "3" "37090471" "37090471" "subst" "0.000272444" "02327" "MLH1_000749" "g.37090471A>G" "" "" "" "MLH1(NM_000249.3):c.2066A>G (p.(Gln689Arg)), MLH1(NM_000249.4):c.2066A>G (p.Q689R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37048980A>G" "" "benign" "" "0000345500" "0" "90" "3" "37089174" "37089174" "subst" "0" "02327" "MLH1_000673" "g.37089174G>A" "" "" "" "MLH1(NM_000249.2):c.1896G>A, MLH1(NM_000249.3):c.1896G>A (p.E632=, p.(=)), MLH1(NM_000249.4):c.1896G>A (p.E632=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37047683G>A" "" "pathogenic" "" "0000345501" "0" "50" "3" "37089173" "37089173" "subst" "0" "02327" "MLH1_001929" "g.37089173A>G" "" "" "" "MLH1(NM_000249.4):c.1895A>G (p.E632G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37047682A>G" "" "VUS" "" "0000346517" "0" "10" "3" "37092025" "37092025" "subst" "0.00545415" "02327" "MLH1_000780" "g.37092025C>T" "" "" "" "MLH1(NM_000249.2):c.2152C>T, MLH1(NM_000249.3):c.2152C>T (p.(His718Tyr)), MLH1(NM_000249.4):c.2152C>T (p.H718Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37050534C>T" "" "benign" "" "0000347267" "0" "10" "3" "37090070" "37090070" "subst" "0.00834221" "02327" "MLH1_000712" "g.37090070G>T" "" "" "" "MLH1(NM_000249.2):c.1959G>T, MLH1(NM_000249.3):c.1959G>T (p.L653=, p.(Leu653=)), MLH1(NM_000249.4):c.1959G>T (p.L653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37048579G>T" "" "benign" "" "0000347269" "0" "70" "3" "37090090" "37090090" "subst" "0" "02327" "MLH1_001692" "g.37090090T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37048599T>C" "" "likely pathogenic" "" "0000347636" "0" "90" "3" "37092067" "37092067" "subst" "0" "02327" "MLH1_001284" "g.37092067A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37050576A>T" "" "pathogenic" "" "0000348533" "0" "70" "3" "37090029" "37090029" "subst" "0" "02327" "MLH1_000714" "g.37090029C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37048538C>T" "" "likely pathogenic" "" "0000350173" "0" "90" "3" "37090475" "37090475" "subst" "0" "02327" "MLH1_001994" "g.37090475C>A" "" "" "" "MLH1(NM_000249.3):c.2070C>A (p.Y690*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37048984C>A" "" "pathogenic" "" "0000350644" "0" "10" "3" "37092019" "37092019" "subst" "0.00118778" "02327" "MLH1_000805" "g.37092019G>A" "" "" "" "MLH1(NM_000249.2):c.2146G>A, MLH1(NM_000249.3):c.2146G>A (p.V716M, p.(Val716Met)), MLH1(NM_000249.4):c.2146G>A (p.V716M), MLH1(NM_001258274.2):c.14..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37050528G>A" "" "benign" "" "0000351145" "0" "90" "3" "37089130" "37089132" "del" "0" "02327" "MLH1_000063" "g.37089130_37089132del" "" "" "" "MLH1(NM_000249.3):c.1852_1854del (p.(Lys618del)), MLH1(NM_000249.3):c.1852_1854delAAG (p.K618del), MLH1(NM_000249.4):c.1852_1854delAAG (p.K618del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37047639_37047641del" "" "pathogenic" "" "0000519163" "0" "30" "3" "37089130" "37089130" "subst" "0.00340385" "02330" "MLH1_001205" "g.37089130A>G" "" "" "" "MLH1(NM_000249.3):c.1852A>G (p.K618E, p.(Lys618Glu)), MLH1(NM_000249.4):c.1852A>G (p.K618E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37047639A>G" "" "likely benign" "" "0000519164" "0" "50" "3" "37089130" "37089130" "subst" "0.00340385" "01943" "MLH1_001205" "g.37089130A>G" "" "" "" "MLH1(NM_000249.3):c.1852A>G (p.K618E, p.(Lys618Glu)), MLH1(NM_000249.4):c.1852A>G (p.K618E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37047639A>G" "" "VUS" "" "0000519165" "0" "30" "3" "37089130" "37089130" "subst" "0.00340385" "02369" "MLH1_001205" "g.37089130A>G" "" "" "" "MLH1(NM_000249.3):c.1852A>G (p.K618E, p.(Lys618Glu)), MLH1(NM_000249.4):c.1852A>G (p.K618E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37047639A>G" "" "likely benign" "" "0000519166" "0" "10" "3" "37089130" "37089130" "subst" "0.00340385" "02325" "MLH1_001205" "g.37089130A>G" "" "" "" "MLH1(NM_000249.3):c.1852A>G (p.K618E, p.(Lys618Glu)), MLH1(NM_000249.4):c.1852A>G (p.K618E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37047639A>G" "" "benign" "" "0000519167" "0" "30" "3" "37089130" "37089130" "subst" "0.00340385" "02329" "MLH1_001205" "g.37089130A>G" "" "" "" "MLH1(NM_000249.3):c.1852A>G (p.K618E, p.(Lys618Glu)), MLH1(NM_000249.4):c.1852A>G (p.K618E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37047639A>G" "" "likely benign" "" "0000519168" "0" "10" "3" "37089130" "37089131" "delins" "0" "01943" "MLH1_000648" "g.37089130_37089131delinsGC" "" "" "" "MLH1(NM_000249.3):c.1852_1853delAAinsGC (p.K618A), MLH1(NM_000249.4):c.1852_1853delAAinsGC (p.K618A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37047639_37047640delinsGC" "" "benign" "" "0000519169" "0" "10" "3" "37089131" "37089131" "subst" "0.00339583" "02369" "MLH1_000655" "g.37089131A>C" "" "" "" "MLH1(NM_000249.3):c.1853A>C (p.K618T, p.(Lys618Thr)), MLH1(NM_000249.4):c.1853A>C (p.K618T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37047640A>C" "" "benign" "" "0000519170" "0" "90" "3" "37089133" "37089133" "subst" "0" "02327" "MLH1_000919" "g.37089133G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37047642G>C" "" "pathogenic" "" "0000519171" "0" "50" "3" "37090024" "37090024" "subst" "4.06349E-6" "02327" "LRRFIP2_000001" "g.37090024G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37048533G>T" "" "VUS" "" "0000519172" "0" "90" "3" "37090024" "37090037" "dup" "0" "02325" "MLH1_000827" "g.37090024_37090037dup" "" "" "" "MLH1(NM_000249.3):c.1913_1926dupGATTACCCCTTCTG (p.I643Dfs*5), MLH1(NM_000249.4):c.1913_1926dupGATTACCCCTTCTG (p.I643Dfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37048533_37048546dup" "" "pathogenic" "" "0000519173" "0" "90" "3" "37090030" "37090030" "subst" "0" "02327" "MLH1_001625" "g.37090030C>T" "" "" "" "MLH1(NM_000249.3):c.1919C>T (p.(Pro640Leu), p.P640L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37048539C>T" "" "pathogenic" "" "0000519174" "0" "90" "3" "37090072" "37090072" "subst" "0" "02327" "MLH1_001663" "g.37090072C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37048581C>T" "" "pathogenic" "" "0000519175" "0" "90" "3" "37090394" "37090394" "subst" "0" "02327" "MLH1_001216" "g.37090394G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37048903G>A" "" "pathogenic" "" "0000519176" "0" "90" "3" "37090410" "37090410" "subst" "0" "02327" "LRRFIP2_000002" "g.37090410G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37048919G>T" "" "pathogenic" "" "0000519177" "0" "90" "3" "37090443" "37090443" "subst" "0" "02327" "MLH1_000744" "g.37090443T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37048952T>C" "" "pathogenic" "" "0000519178" "0" "30" "3" "37090449" "37090449" "subst" "0" "02327" "LRRFIP2_000003" "g.37090449A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37048958A>G" "" "likely benign" "" "0000519179" "0" "30" "3" "37090459" "37090459" "subst" "0" "02327" "LRRFIP2_000004" "g.37090459C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37048968C>T" "" "likely benign" "" "0000519180" "0" "70" "3" "37090464" "37090464" "subst" "2.03295E-5" "01943" "MLH1_001688" "g.37090464C>T" "" "" "" "MLH1(NM_000249.3):c.2059C>T (p.R687W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37048973C>T" "" "likely pathogenic" "" "0000519181" "0" "10" "3" "37090471" "37090471" "subst" "0.000272444" "01804" "MLH1_000749" "g.37090471A>G" "" "" "" "MLH1(NM_000249.3):c.2066A>G (p.(Gln689Arg)), MLH1(NM_000249.4):c.2066A>G (p.Q689R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37048980A>G" "" "benign" "" "0000519182" "0" "90" "3" "37090475" "37090475" "subst" "0" "01943" "MLH1_001994" "g.37090475C>A" "" "" "" "MLH1(NM_000249.3):c.2070C>A (p.Y690*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37048984C>A" "" "pathogenic" "" "0000519183" "0" "90" "3" "37090503" "37090503" "subst" "0" "02327" "MLH1_001856" "g.37090503C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37049012C>T" "" "pathogenic" "" "0000519185" "0" "10" "3" "37092025" "37092025" "subst" "0.00545415" "01804" "MLH1_000780" "g.37092025C>T" "" "" "" "MLH1(NM_000249.2):c.2152C>T, MLH1(NM_000249.3):c.2152C>T (p.(His718Tyr)), MLH1(NM_000249.4):c.2152C>T (p.H718Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37050534C>T" "" "benign" "" "0000519186" "0" "50" "3" "37092233" "37092233" "subst" "0" "02327" "LRRFIP2_000005" "g.37092233A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37050742A>G" "" "VUS" "" "0000595681" "1" "70" "3" "37085971" "37085977" "" "0" "01164" "MLH1_002152" "g.[37085971_37085977del;37085978_37095673inv;37095674_37189288delinsACCAT]" "" "{PMID:Morak 2020:21712435}, {PMID:Arnold 2020:31822864}" "" "" "inversion MLH1 ex16-19, LRRFIP2 del ex4-28, inv ex29" "Germline" "yes" "" "0" "" "" "g.[37044480_37044486del;37044487_37054182inv;37054183_37147797delinsACCAT]" "" "likely pathogenic" "ACMG" "0000608523" "0" "70" "3" "37089157" "37089157" "subst" "0" "02327" "LRRFIP2_000007" "g.37089157T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37047666T>C" "" "likely pathogenic" "" "0000608524" "0" "10" "3" "37090070" "37090070" "subst" "0.00834221" "02369" "MLH1_000712" "g.37090070G>T" "" "" "" "MLH1(NM_000249.2):c.1959G>T, MLH1(NM_000249.3):c.1959G>T (p.L653=, p.(Leu653=)), MLH1(NM_000249.4):c.1959G>T (p.L653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37048579G>T" "" "benign" "" "0000608525" "0" "90" "3" "37090403" "37090403" "subst" "0" "02327" "MLH1_001242" "g.37090403G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37048912G>A" "" "pathogenic" "" "0000608526" "0" "90" "3" "37090446" "37090446" "subst" "0" "02327" "MLH1_000737" "g.37090446G>A" "" "" "" "MLH1(NM_000249.3):c.2041G>A (p.A681T, p.(Ala681Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37048955G>A" "" "pathogenic" "" "0000608527" "0" "30" "3" "37090506" "37090506" "subst" "0.000460394" "02327" "MLH1_001621" "g.37090506C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37049015C>A" "" "likely benign" "" "0000608528" "0" "70" "3" "37092144" "37092144" "subst" "0" "02327" "LRRFIP2_000008" "g.37092144A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37050653A>C" "" "likely pathogenic" "" "0000608529" "0" "30" "3" "37092176" "37092176" "subst" "0.00158671" "02327" "LRRFIP2_000009" "g.37092176C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37050685C>T" "" "likely benign" "" "0000621246" "0" "90" "3" "37089175" "37089175" "subst" "4.06204E-6" "02330" "MLH1_000676" "g.37089175G>T" "" "" "" "MLH1(NM_000249.4):c.1896+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37047684G>T" "" "pathogenic" "" "0000676942" "0" "30" "3" "37089130" "37089131" "delins" "0" "02329" "MLH1_000648" "g.37089130_37089131delinsGC" "" "" "" "MLH1(NM_000249.3):c.1852_1853delAAinsGC (p.K618A), MLH1(NM_000249.4):c.1852_1853delAAinsGC (p.K618A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676943" "0" "50" "3" "37089155" "37089155" "subst" "0" "02327" "MLH1_001781" "g.37089155T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676944" "0" "50" "3" "37090047" "37090047" "subst" "0" "02327" "LRRFIP2_000010" "g.37090047T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676945" "0" "90" "3" "37090489" "37090489" "subst" "0" "02327" "MLH1_001264" "g.37090489C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000689045" "0" "30" "3" "37089237" "37089237" "subst" "0" "02327" "LRRFIP2_000011" "g.37089237T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689046" "0" "30" "3" "37090445" "37090445" "subst" "1.21952E-5" "02327" "MLH1_001250" "g.37090445C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689047" "0" "90" "3" "37090447" "37090447" "subst" "0" "02327" "MLH1_001251" "g.37090447C>T" "" "" "" "MLH1(NM_000249.3):c.2042C>T (p.A681V), MLH1(NM_000249.4):c.2042C>T (p.A681V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000689048" "0" "10" "3" "37092019" "37092019" "subst" "0.00118778" "02369" "MLH1_000805" "g.37092019G>A" "" "" "" "MLH1(NM_000249.2):c.2146G>A, MLH1(NM_000249.3):c.2146G>A (p.V716M, p.(Val716Met)), MLH1(NM_000249.4):c.2146G>A (p.V716M), MLH1(NM_001258274.2):c.14..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689049" "0" "50" "3" "37092103" "37092103" "subst" "0" "02327" "LRRFIP2_000012" "g.37092103G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689050" "0" "10" "3" "37092179" "37092181" "del" "0" "02369" "MLH1_000813" "g.37092179_37092181del" "" "" "" "MLH1(NM_000249.3):c.*35_*37delCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000719369" "0" "30" "3" "37089234" "37089234" "subst" "0" "02327" "LRRFIP2_000013" "g.37089234C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719370" "0" "90" "3" "37090015" "37090015" "dup" "0" "02369" "MLH1_000826" "g.37090015dup" "" "" "" "MLH1(NM_000249.3):c.1904dupA (p.N635Kfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000801176" "0" "10" "3" "37089130" "37089131" "delins" "0" "02369" "MLH1_000648" "g.37089130_37089131delinsGC" "" "" "" "MLH1(NM_000249.3):c.1852_1853delAAinsGC (p.K618A), MLH1(NM_000249.4):c.1852_1853delAAinsGC (p.K618A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000801177" "0" "90" "3" "37090087" "37090087" "subst" "0" "02327" "MLH1_000688" "g.37090087G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000801178" "0" "90" "3" "37090464" "37090464" "subst" "2.03295E-5" "02327" "MLH1_001688" "g.37090464C>T" "" "" "" "MLH1(NM_000249.3):c.2059C>T (p.R687W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000801179" "0" "30" "3" "37092258" "37092258" "subst" "0" "02327" "LRRFIP2_000014" "g.37092258A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850256" "0" "90" "3" "37089143" "37089143" "subst" "0" "02327" "MLH1_000644" "g.37089143T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850257" "0" "10" "3" "37090074" "37090074" "subst" "0.00102853" "02330" "MLH1_000704" "g.37090074A>G" "" "" "" "MLH1(NM_000249.3):c.1963A>G (p.I655V), MLH1(NM_000249.4):c.1963A>G (p.I655V), MLH1(NM_001258274.3):c.1240A>G (p.I414V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850258" "0" "90" "3" "37090392" "37090392" "subst" "0" "02327" "MLH1_000736" "g.37090392C>G" "" "" "" "MLH1(NM_000249.4):c.1990-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850259" "0" "90" "3" "37090447" "37090447" "subst" "0" "02325" "MLH1_001251" "g.37090447C>T" "" "" "" "MLH1(NM_000249.3):c.2042C>T (p.A681V), MLH1(NM_000249.4):c.2042C>T (p.A681V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850260" "0" "50" "3" "37091966" "37091966" "subst" "0.000150584" "02327" "MLH1_001271" "g.37091966G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850261" "0" "90" "3" "37091976" "37091976" "subst" "0" "02327" "LRRFIP2_000015" "g.37091976G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850262" "0" "50" "3" "37092112" "37092112" "subst" "4.06421E-6" "02327" "MLH1_002410" "g.37092112C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858980" "0" "50" "3" "37089130" "37089130" "subst" "0.00340385" "01804" "MLH1_001205" "g.37089130A>G" "" "" "" "MLH1(NM_000249.3):c.1852A>G (p.K618E, p.(Lys618Glu)), MLH1(NM_000249.4):c.1852A>G (p.K618E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858981" "0" "50" "3" "37089131" "37089131" "subst" "0.00339583" "01804" "MLH1_000655" "g.37089131A>C" "" "" "" "MLH1(NM_000249.3):c.1853A>C (p.K618T, p.(Lys618Thr)), MLH1(NM_000249.4):c.1853A>C (p.K618T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858982" "0" "70" "3" "37089173" "37089173" "subst" "0" "02330" "MLH1_001929" "g.37089173A>G" "" "" "" "MLH1(NM_000249.4):c.1895A>G (p.E632G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000858983" "0" "50" "3" "37090029" "37090029" "subst" "0" "01804" "MLH1_000715" "g.37090029C>A" "" "" "" "MLH1(NM_000249.3):c.1918C>A (p.(Pro640Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858984" "0" "10" "3" "37090074" "37090074" "subst" "0.00102853" "02326" "MLH1_000704" "g.37090074A>G" "" "" "" "MLH1(NM_000249.3):c.1963A>G (p.I655V), MLH1(NM_000249.4):c.1963A>G (p.I655V), MLH1(NM_001258274.3):c.1240A>G (p.I414V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858985" "0" "10" "3" "37092019" "37092019" "subst" "0.00118778" "01804" "MLH1_000805" "g.37092019G>A" "" "" "" "MLH1(NM_000249.2):c.2146G>A, MLH1(NM_000249.3):c.2146G>A (p.V716M, p.(Val716Met)), MLH1(NM_000249.4):c.2146G>A (p.V716M), MLH1(NM_001258274.2):c.14..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885748" "0" "10" "3" "37089130" "37089130" "subst" "0.00340385" "02326" "MLH1_001205" "g.37089130A>G" "" "" "" "MLH1(NM_000249.3):c.1852A>G (p.K618E, p.(Lys618Glu)), MLH1(NM_000249.4):c.1852A>G (p.K618E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885749" "0" "90" "3" "37089130" "37089132" "del" "0" "01804" "MLH1_000063" "g.37089130_37089132del" "" "" "" "MLH1(NM_000249.3):c.1852_1854del (p.(Lys618del)), MLH1(NM_000249.3):c.1852_1854delAAG (p.K618del), MLH1(NM_000249.4):c.1852_1854delAAG (p.K618del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885750" "0" "10" "3" "37089131" "37089131" "subst" "0.00339583" "02326" "MLH1_000655" "g.37089131A>C" "" "" "" "MLH1(NM_000249.3):c.1853A>C (p.K618T, p.(Lys618Thr)), MLH1(NM_000249.4):c.1853A>C (p.K618T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885751" "0" "70" "3" "37090030" "37090030" "subst" "0" "01804" "MLH1_001625" "g.37090030C>T" "" "" "" "MLH1(NM_000249.3):c.1919C>T (p.(Pro640Leu), p.P640L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000885752" "0" "90" "3" "37090446" "37090446" "subst" "0" "01804" "MLH1_000737" "g.37090446G>A" "" "" "" "MLH1(NM_000249.3):c.2041G>A (p.A681T, p.(Ala681Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885753" "0" "90" "3" "37092000" "37092006" "del" "0" "02325" "LRRFIP2_000016" "g.37092000_37092006del" "" "" "" "MLH1(NM_000249.4):c.2127_2133delAAACTCC (p.N710Gfs*71)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885754" "0" "50" "3" "37092047" "37092047" "subst" "0.000191141" "02327" "MLH1_001487" "g.37092047G>A" "" "" "" "MLH1(NM_000249.3):c.2174G>A (p.R725H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911909" "0" "90" "3" "37089172" "37089172" "subst" "0" "02327" "LRRFIP2_000017" "g.37089172G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000911910" "0" "90" "3" "37089174" "37089174" "subst" "0" "01804" "MLH1_000673" "g.37089174G>A" "" "" "" "MLH1(NM_000249.2):c.1896G>A, MLH1(NM_000249.3):c.1896G>A (p.E632=, p.(=)), MLH1(NM_000249.4):c.1896G>A (p.E632=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000911911" "0" "90" "3" "37090024" "37090037" "dup" "0" "02369" "MLH1_000827" "g.37090024_37090037dup" "" "" "" "MLH1(NM_000249.3):c.1913_1926dupGATTACCCCTTCTG (p.I643Dfs*5), MLH1(NM_000249.4):c.1913_1926dupGATTACCCCTTCTG (p.I643Dfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923923" "0" "70" "3" "37089175" "37089175" "subst" "4.06204E-6" "02327" "MLH1_000676" "g.37089175G>T" "" "" "" "MLH1(NM_000249.4):c.1896+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000923924" "0" "90" "3" "37092119" "37092119" "subst" "0" "01804" "MLH1_000789" "g.37092119T>C" "" "" "" "MLH1(NM_000249.3):c.2246T>C (p.(Leu749Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928771" "0" "30" "3" "37090074" "37090074" "subst" "0.00102853" "02329" "MLH1_000704" "g.37090074A>G" "" "" "" "MLH1(NM_000249.3):c.1963A>G (p.I655V), MLH1(NM_000249.4):c.1963A>G (p.I655V), MLH1(NM_001258274.3):c.1240A>G (p.I414V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928772" "0" "50" "3" "37090456" "37090456" "subst" "1.62617E-5" "02329" "MLH1_001252" "g.37090456A>G" "" "" "" "MLH1(NM_000249.4):c.2051A>G (p.Y684C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948131" "0" "50" "3" "37089168" "37089168" "subst" "4.0621E-6" "02327" "LRRFIP2_000018" "g.37089168T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948132" "0" "30" "3" "37089991" "37089991" "subst" "0.000219459" "02329" "MLH1_001426" "g.37089991C>G" "" "" "" "MLH1(NM_000249.4):c.1897-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948133" "0" "30" "3" "37090471" "37090471" "subst" "0.000272444" "02325" "MLH1_000749" "g.37090471A>G" "" "" "" "MLH1(NM_000249.3):c.2066A>G (p.(Gln689Arg)), MLH1(NM_000249.4):c.2066A>G (p.Q689R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948134" "0" "10" "3" "37090471" "37090471" "subst" "0.000272444" "02329" "MLH1_000749" "g.37090471A>G" "" "" "" "MLH1(NM_000249.3):c.2066A>G (p.(Gln689Arg)), MLH1(NM_000249.4):c.2066A>G (p.Q689R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962718" "0" "90" "3" "37090030" "37090030" "subst" "0" "02369" "MLH1_001625" "g.37090030C>T" "" "" "" "MLH1(NM_000249.3):c.1919C>T (p.(Pro640Leu), p.P640L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000962719" "0" "30" "3" "37090116" "37090116" "subst" "0" "02329" "LRRFIP2_000019" "g.37090116G>C" "" "" "" "MLH1(NM_000249.4):c.1989+16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962720" "0" "90" "3" "37090447" "37090447" "subst" "0" "02369" "MLH1_001251" "g.37090447C>T" "" "" "" "MLH1(NM_000249.3):c.2042C>T (p.A681V), MLH1(NM_000249.4):c.2042C>T (p.A681V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000962721" "0" "90" "3" "37090464" "37090464" "subst" "2.03295E-5" "02369" "MLH1_001688" "g.37090464C>T" "" "" "" "MLH1(NM_000249.3):c.2059C>T (p.R687W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000962722" "0" "90" "3" "37090509" "37090509" "subst" "0" "02369" "MLH1_000765" "g.37090509G>A" "" "" "" "MLH1(NM_000249.3):c.2103+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000993596" "0" "90" "3" "37090475" "37090475" "subst" "0" "02327" "LRRFIP2_000020" "g.37090475C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001013869" "0" "70" "3" "37089175" "37089175" "subst" "0" "02327" "MLH1_000674" "g.37089175G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001013870" "0" "30" "3" "37089185" "37089185" "subst" "0" "02329" "LRRFIP2_000021" "g.37089185C>T" "" "" "" "MLH1(NM_000249.4):c.1896+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013871" "0" "90" "3" "37092068" "37092069" "del" "0" "01804" "MLH1_001680" "g.37092068_37092069del" "" "" "" "MLH1(NM_000249.3):c.2195_2196del (p.(Lys732ThrfsTer13)), MLH1(NM_000249.3):c.2195_2196delAA (p.K732Tfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001024792" "0" "50" "3" "37090456" "37090456" "subst" "1.62617E-5" "02325" "MLH1_001252" "g.37090456A>G" "" "" "" "MLH1(NM_000249.4):c.2051A>G (p.Y684C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033919" "0" "10" "3" "37092019" "37092019" "subst" "0.00118778" "02326" "MLH1_000805" "g.37092019G>A" "" "" "" "MLH1(NM_000249.2):c.2146G>A, MLH1(NM_000249.3):c.2146G>A (p.V716M, p.(Val716Met)), MLH1(NM_000249.4):c.2146G>A (p.V716M), MLH1(NM_001258274.2):c.14..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001045908" "0" "10" "3" "37089130" "37089130" "subst" "0.00340385" "02327" "MLH1_001205" "g.37089130A>G" "" "" "" "MLH1(NM_000249.3):c.1852A>G (p.K618E, p.(Lys618Glu)), MLH1(NM_000249.4):c.1852A>G (p.K618E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001045909" "0" "10" "3" "37089131" "37089131" "subst" "0.00339583" "02327" "MLH1_000655" "g.37089131A>C" "" "" "" "MLH1(NM_000249.3):c.1853A>C (p.K618T, p.(Lys618Thr)), MLH1(NM_000249.4):c.1853A>C (p.K618T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001045910" "0" "90" "3" "37090057" "37090057" "del" "0" "02325" "MLH1_001228" "g.37090057del" "" "" "" "MLH1(NM_000249.4):c.1946delC (p.P649Lfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001045911" "0" "90" "3" "37090100" "37090100" "subst" "0" "02327" "MLH1_001236" "g.37090100G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes LRRFIP2 ## Count = 145 "{{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}}" "0000246100" "00011506" "30" "8377" "0" "8377" "0" "c.*6211T>G" "r.(=)" "p.(=)" "" "0000247906" "00011506" "10" "8377" "0" "8377" "0" "c.*6211T>G" "r.(=)" "p.(=)" "" "0000249929" "00011506" "30" "8377" "0" "8377" "0" "c.*6211T>G" "r.(=)" "p.(=)" "" "0000253153" "00011506" "10" "8377" "0" "8377" "0" "c.*6211T>G" "r.(=)" "p.(=)" "" "0000256407" "00011506" "50" "7463" "0" "7463" "0" "c.*5297T>C" "r.(=)" "p.(=)" "" "0000279805" "00011506" "10" "7438" "0" "7438" "0" "c.*5272C>A" "r.(=)" "p.(=)" "" "0000279806" "00011506" "30" "5489" "0" "5489" "0" "c.*3323C>T" "r.(=)" "p.(=)" "" "0000279807" "00011506" "10" "5483" "0" "5483" "0" "c.*3317G>A" "r.(=)" "p.(=)" "" "0000282524" "00011506" "50" "8391" "0" "8391" "0" "c.*6225C>G" "r.(=)" "p.(=)" "" "0000282525" "00011506" "90" "8383" "0" "8385" "0" "c.*6217_*6219del" "r.(=)" "p.(=)" "" "0000282526" "00011506" "90" "8334" "0" "8334" "0" "c.*6168C>T" "r.(=)" "p.(=)" "" "0000282527" "00011506" "50" "7503" "0" "7503" "0" "c.*5337G>C" "r.(=)" "p.(=)" "" "0000282529" "00011506" "30" "7438" "0" "7438" "0" "c.*5272C>A" "r.(=)" "p.(=)" "" "0000282530" "00011506" "90" "7422" "0" "7422" "0" "c.*5256G>A" "r.(=)" "p.(=)" "" "0000282532" "00011506" "90" "7002" "0" "7002" "0" "c.*4836G>A" "r.(=)" "p.(=)" "" "0000282534" "00011506" "30" "5489" "0" "5489" "0" "c.*3323C>T" "r.(=)" "p.(=)" "" "0000283691" "00011506" "10" "7438" "0" "7438" "0" "c.*5272C>A" "r.(=)" "p.(=)" "" "0000283692" "00011506" "90" "7116" "0" "7116" "0" "c.*4950G>C" "r.(=)" "p.(=)" "" "0000283693" "00011506" "10" "5489" "0" "5489" "0" "c.*3323C>T" "r.(=)" "p.(=)" "" "0000283694" "00011506" "10" "5483" "0" "5483" "0" "c.*3317G>A" "r.(=)" "p.(=)" "" "0000286610" "00011506" "90" "8334" "0" "8334" "0" "c.*6168C>T" "r.(=)" "p.(=)" "" "0000286611" "00011506" "90" "5464" "0" "5464" "0" "c.*3298A>T" "r.(=)" "p.(=)" "" "0000287080" "00011506" "10" "7234" "0" "7234" "0" "c.*5068G>A" "r.(=)" "p.(=)" "" "0000287081" "00011506" "50" "5461" "0" "5461" "0" "c.*3295C>T" "r.(=)" "p.(=)" "" "0000287082" "00011506" "90" "5440" "0" "5441" "0" "c.*3274_*3275del" "r.(=)" "p.(=)" "" "0000291863" "00011506" "30" "5332" "0" "5334" "0" "c.*3166_*3168del" "r.(=)" "p.(=)" "" "0000291878" "00011506" "90" "8383" "0" "8385" "0" "c.*6217_*6219del" "r.(=)" "p.(=)" "" "0000291879" "00011506" "90" "8334" "0" "8334" "0" "c.*6168C>T" "r.(=)" "p.(=)" "" "0000291880" "00011506" "90" "7454" "0" "7454" "0" "c.*5288G>A" "r.(=)" "p.(=)" "" "0000291882" "00011506" "10" "7438" "0" "7438" "0" "c.*5272C>A" "r.(=)" "p.(=)" "" "0000291884" "00011506" "90" "7062" "0" "7062" "0" "c.*4896C>T" "r.(=)" "p.(=)" "" "0000291885" "00011506" "50" "7061" "0" "7061" "0" "c.*4895G>A" "r.(=)" "p.(=)" "" "0000291886" "00011506" "30" "5489" "0" "5489" "0" "c.*3323C>T" "r.(=)" "p.(=)" "" "0000329308" "00011506" "10" "7438" "0" "7438" "0" "c.*5272C>A" "r.(=)" "p.(=)" "" "0000337916" "00011506" "30" "8227" "0" "8227" "0" "c.*6061G>A" "r.(=)" "p.(=)" "" "0000337917" "00011506" "90" "7115" "0" "7115" "0" "c.*4949T>A" "r.(=)" "p.(=)" "" "0000337918" "00011506" "90" "6999" "0" "6999" "0" "c.*4833C>T" "r.(=)" "p.(=)" "" "0000337919" "00011506" "90" "5532" "0" "5532" "0" "c.*3366C>G" "r.(=)" "p.(=)" "" "0000343218" "00011506" "90" "7422" "0" "7422" "0" "c.*5256G>A" "r.(=)" "p.(=)" "" "0000343813" "00011506" "50" "7108" "0" "7108" "0" "c.*4942A>C" "r.(=)" "p.(=)" "" "0000344934" "00011506" "10" "7037" "0" "7037" "0" "c.*4871T>C" "r.(=)" "p.(=)" "" "0000345500" "00011506" "90" "8334" "0" "8334" "0" "c.*6168C>T" "r.(=)" "p.(=)" "" "0000345501" "00011506" "50" "8335" "0" "8335" "0" "c.*6169T>C" "r.(=)" "p.(=)" "" "0000346517" "00011506" "10" "5483" "0" "5483" "0" "c.*3317G>A" "r.(=)" "p.(=)" "" "0000347267" "00011506" "10" "7438" "0" "7438" "0" "c.*5272C>A" "r.(=)" "p.(=)" "" "0000347269" "00011506" "70" "7418" "0" "7418" "0" "c.*5252A>G" "r.(=)" "p.(=)" "" "0000347636" "00011506" "90" "5441" "0" "5441" "0" "c.*3275T>A" "r.(=)" "p.(=)" "" "0000348533" "00011506" "70" "7479" "0" "7479" "0" "c.*5313G>A" "r.(=)" "p.(=)" "" "0000350173" "00011506" "90" "7033" "0" "7033" "0" "c.*4867G>T" "r.(=)" "p.(=)" "" "0000350644" "00011506" "10" "5489" "0" "5489" "0" "c.*3323C>T" "r.(=)" "p.(=)" "" "0000351145" "00011506" "90" "8383" "0" "8385" "0" "c.*6217_*6219del" "r.(=)" "p.(=)" "" "0000519163" "00011506" "30" "8378" "0" "8378" "0" "c.*6212T>C" "r.(=)" "p.(=)" "" "0000519164" "00011506" "50" "8378" "0" "8378" "0" "c.*6212T>C" "r.(=)" "p.(=)" "" "0000519165" "00011506" "30" "8378" "0" "8378" "0" "c.*6212T>C" "r.(=)" "p.(=)" "" "0000519166" "00011506" "10" "8378" "0" "8378" "0" "c.*6212T>C" "r.(=)" "p.(=)" "" "0000519167" "00011506" "30" "8378" "0" "8378" "0" "c.*6212T>C" "r.(=)" "p.(=)" "" "0000519168" "00011506" "10" "8377" "0" "8378" "0" "c.*6211_*6212delinsGC" "r.(=)" "p.(=)" "" "0000519169" "00011506" "10" "8377" "0" "8377" "0" "c.*6211T>G" "r.(=)" "p.(=)" "" "0000519170" "00011506" "90" "8375" "0" "8375" "0" "c.*6209C>G" "r.(=)" "p.(=)" "" "0000519171" "00011506" "50" "7484" "0" "7484" "0" "c.*5318C>A" "r.(=)" "p.(=)" "" "0000519172" "00011506" "90" "7473" "0" "7486" "0" "c.*5307_*5320dup" "r.(=)" "p.(=)" "" "0000519173" "00011506" "90" "7478" "0" "7478" "0" "c.*5312G>A" "r.(=)" "p.(=)" "" "0000519174" "00011506" "90" "7436" "0" "7436" "0" "c.*5270G>A" "r.(=)" "p.(=)" "" "0000519175" "00011506" "90" "7114" "0" "7114" "0" "c.*4948C>T" "r.(=)" "p.(=)" "" "0000519176" "00011506" "90" "7098" "0" "7098" "0" "c.*4932C>A" "r.(=)" "p.(=)" "" "0000519177" "00011506" "90" "7065" "0" "7065" "0" "c.*4899A>G" "r.(=)" "p.(=)" "" "0000519178" "00011506" "30" "7059" "0" "7059" "0" "c.*4893T>C" "r.(=)" "p.(=)" "" "0000519179" "00011506" "30" "7049" "0" "7049" "0" "c.*4883G>A" "r.(=)" "p.(=)" "" "0000519180" "00011506" "70" "7044" "0" "7044" "0" "c.*4878G>A" "r.(=)" "p.(=)" "" "0000519181" "00011506" "10" "7037" "0" "7037" "0" "c.*4871T>C" "r.(=)" "p.(=)" "" "0000519182" "00011506" "90" "7033" "0" "7033" "0" "c.*4867G>T" "r.(=)" "p.(=)" "" "0000519183" "00011506" "90" "7005" "0" "7005" "0" "c.*4839G>A" "r.(=)" "p.(=)" "" "0000519185" "00011506" "10" "5483" "0" "5483" "0" "c.*3317G>A" "r.(=)" "p.(=)" "" "0000519186" "00011506" "50" "5275" "0" "5275" "0" "c.*3109T>C" "r.(=)" "p.(=)" "" "0000595681" "00011506" "70" "90" "1097" "2056" "-222" "c.[90+1097_2056-222del;2056-221_*1225{1}]" "r.-423_90::[NM_000249.3:c.1732_*193]" "p.Met1_Glu30::[NP_000240.1:p.Glu578_Ter757]" "4i_29_" "0000608523" "00011506" "70" "8351" "0" "8351" "0" "c.*6185A>G" "r.(=)" "p.(=)" "" "0000608524" "00011506" "10" "7438" "0" "7438" "0" "c.*5272C>A" "r.(=)" "p.(=)" "" "0000608525" "00011506" "90" "7105" "0" "7105" "0" "c.*4939C>T" "r.(=)" "p.(=)" "" "0000608526" "00011506" "90" "7062" "0" "7062" "0" "c.*4896C>T" "r.(=)" "p.(=)" "" "0000608527" "00011506" "30" "7002" "0" "7002" "0" "c.*4836G>T" "r.(=)" "p.(=)" "" "0000608528" "00011506" "70" "5364" "0" "5364" "0" "c.*3198T>G" "r.(=)" "p.(=)" "" "0000608529" "00011506" "30" "5332" "0" "5332" "0" "c.*3166G>A" "r.(=)" "p.(=)" "" "0000621246" "00011506" "90" "8333" "0" "8333" "0" "c.*6167C>A" "r.(=)" "p.(=)" "" "0000676942" "00011506" "30" "8377" "0" "8378" "0" "c.*6211_*6212delinsGC" "r.(=)" "p.(=)" "" "0000676943" "00011506" "50" "8353" "0" "8353" "0" "c.*6187A>G" "r.(=)" "p.(=)" "" "0000676944" "00011506" "50" "7461" "0" "7461" "0" "c.*5295A>C" "r.(=)" "p.(=)" "" "0000676945" "00011506" "90" "7019" "0" "7019" "0" "c.*4853G>T" "r.(=)" "p.(=)" "" "0000689045" "00011506" "30" "8271" "0" "8271" "0" "c.*6105A>G" "r.(=)" "p.(=)" "" "0000689046" "00011506" "30" "7063" "0" "7063" "0" "c.*4897G>A" "r.(=)" "p.(=)" "" "0000689047" "00011506" "90" "7061" "0" "7061" "0" "c.*4895G>A" "r.(=)" "p.(=)" "" "0000689048" "00011506" "10" "5489" "0" "5489" "0" "c.*3323C>T" "r.(=)" "p.(=)" "" "0000689049" "00011506" "50" "5405" "0" "5405" "0" "c.*3239C>T" "r.(=)" "p.(=)" "" "0000689050" "00011506" "10" "5332" "0" "5334" "0" "c.*3166_*3168del" "r.(=)" "p.(=)" "" "0000719369" "00011506" "30" "8274" "0" "8274" "0" "c.*6108G>A" "r.(=)" "p.(=)" "" "0000719370" "00011506" "90" "7494" "0" "7494" "0" "c.*5328dup" "r.(?)" 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"p.(=)" "" "0001045911" "00011506" "90" "7408" "0" "7408" "0" "c.*5242C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000265097" "0000595681"