### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MUC16) # 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}}" "MUC16" "mucin 16, cell surface associated" "19" "p13.2" "unknown" "NG_055257.1" "UD_136016968415" "" "https://www.LOVD.nl/MUC16" "" "1" "15582" "94025" "606154" "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/MUC16_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-03-23 11:16:50" "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}}" "00014079" "MUC16" "mucin 16, cell surface associated" "001" "NM_024690.2" "" "NP_078966.2" "" "" "" "-204" "43612" "43524" "9092018" "8959520" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" "05533" "MR;ID" "mental retardation (MR, intellectual disability (ID))" "" "" "" "" "" "00006" "2018-12-18 09:22:07" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00155311" "" "" "" "7" "" "00006" "{PMID:Santos-Cortez 2016:26805784}, {DOI:Santos-Cortez 2016:10.1016/j.ajhg.2015.12.004}" "5-generation family, 7 affecteds (4F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "26805784-FamDEM4154" "00155312" "" "" "" "5" "" "00006" "{PMID:Santos-Cortez 2016:26805784}, {DOI:Santos-Cortez 2016:10.1016/j.ajhg.2015.12.004}" "4-generation family, 5 affected (4F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "26805784-FamPKDF1400" "00235344" "" "" "" "1" "" "00006" "{PMID:Onat 2013:22892528}" "3-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Turkey" "" "0" "" "" "" "" "00245766" "" "" "" "1" "" "01836" "" "" "F" "" "" "" "0" "" "" "" "RED" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00155311" "05400" "00155312" "05400" "00235344" "00198" "00245766" "05533" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05400, 05533 ## Count = 3 "{{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}}" "0000127811" "05400" "00155311" "00006" "Familial, autosomal recessive" "" "congenital profound hearing impairment, limb malformations, no other abnormalities" "" "" "" "" "" "" "" "" "DFNB-68" "deafness, autosomal recessive (DFNB)" "" "0000127812" "05400" "00155312" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNB-68" "deafness, autosomal recessive (DFNB)" "" "0000175608" "00198" "00235344" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CAMRQ-4" "cerebellar ataxia, mental retardation, dysequilibrium syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000156175" "00155311" "1" "00006" "00006" "2018-03-23 11:11:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000156176" "00155312" "1" "00006" "00006" "2018-03-23 11:28:48" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000236449" "00235344" "1" "00006" "00006" "2019-05-23 10:09:07" "" "" "SEQ" "DNA" "" "" "0000246878" "00245766" "1" "01836" "01836" "2019-07-08 11:51:02" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000156175" "S1PR2" "0000156176" "S1PR2" "0000236449" "ATP8A2" ## 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 = 136 "{{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}}" "0000254648" "0" "30" "19" "9045629" "9045629" "subst" "0" "01943" "MUC16_000023" "g.9045629A>C" "" "" "" "MUC16(NM_024690.2):c.36002T>G (p.L12001R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8934953A>C" "" "likely benign" "" "0000254712" "0" "30" "19" "9047006" "9047006" "subst" "8.12638E-6" "01943" "MUC16_000005" "g.9047006A>G" "" "" "" "MUC16(NM_024690.2):c.34625T>C (p.M11542T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8936330A>G" "" "likely benign" "" "0000254983" "0" "30" "19" "9085814" "9085814" "subst" "4.47242E-5" "01943" "MUC16_000019" "g.9085814A>G" "" "" "" "MUC16(NM_024690.2):c.6001T>C (p.S2001P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8975138A>G" "" "likely benign" "" "0000256520" "0" "50" "19" "9089381" "9089381" "subst" "0.000142201" "01943" "MUC16_000024" "g.9089381A>G" "" "" "" "MUC16(NM_024690.2):c.2434T>C (p.S812P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8978705A>G" "" "VUS" "" "0000292154" "0" "30" "19" "9077315" "9077315" "subst" "0.000187156" "01943" "MUC16_000017" "g.9077315G>A" "" "" "" "MUC16(NM_024690.2):c.10131C>T (p.N3377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8966639G>A" "" "likely benign" "" "0000292155" "0" "30" "19" "9075064" "9075064" "subst" "0.000394913" "01943" "MUC16_000016" "g.9075064T>C" "" "" "" "MUC16(NM_024690.2):c.12382A>G (p.R4128G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8964388T>C" "" "likely benign" "" "0000292156" "0" "30" "19" "9072471" "9072471" "subst" "0.000236185" "01943" "MUC16_000015" "g.9072471T>C" "" "" "" "MUC16(NM_024690.2):c.14975A>G (p.D4992G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8961795T>C" "" "likely benign" "" "0000292157" "0" "30" "19" "9070608" "9070608" "subst" "8.14372E-6" "01943" "MUC16_000014" "g.9070608G>C" "" "" "" "MUC16(NM_024690.2):c.16838C>G (p.T5613S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8959932G>C" "" "likely benign" "" "0000292158" "0" "30" "19" "9067359" "9067359" "subst" "0.000146634" "01943" "MUC16_000013" "g.9067359G>A" "" "" "" "MUC16(NM_024690.2):c.20087C>T (p.S6696F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8956683G>A" "" "likely benign" "" "0000292159" "0" "30" "19" "9065465" "9065465" "subst" "7.33562E-5" "01943" "MUC16_000012" "g.9065465C>T" "" "" "" "MUC16(NM_024690.2):c.21981G>A (p.K7327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8954789C>T" "" "likely benign" "" "0000292160" "0" "50" "19" "9089323" "9089323" "subst" "1.2191E-5" "01943" "MUC16_000020" "g.9089323G>A" "" "" "" "MUC16(NM_024690.2):c.2492C>T (p.S831L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8978647G>A" "" "VUS" "" "0000292161" "0" "30" "19" "9062341" "9062341" "subst" "0.000126077" "01943" "MUC16_000011" "g.9062341C>T" "" "" "" "MUC16(NM_024690.2):c.25105G>A (p.V8369I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8951665C>T" "" "likely benign" "" "0000292162" "0" "50" "19" "9061098" "9061098" "subst" "0.000211516" "01943" "MUC16_000010" "g.9061098G>C" "" "" "" "MUC16(NM_024690.2):c.26348C>G (p.A8783G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8950422G>C" "" "VUS" "" "0000292163" "0" "50" "19" "9060568" "9060568" "subst" "8.14206E-6" "01943" "MUC16_000009" "g.9060568G>A" "" "" "" "MUC16(NM_024690.2):c.26878C>T (p.P8960S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8949892G>A" "" "VUS" "" "0000292164" "0" "50" "19" "9059382" "9059382" "subst" "0" "01943" "MUC16_000008" "g.9059382G>A" "" "" "" "MUC16(NM_024690.2):c.28064C>T (p.T9355I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8948706G>A" "" "VUS" "" "0000292165" "0" "30" "19" "9059380" "9059380" "subst" "3.28194E-5" "01943" "MUC16_000007" "g.9059380G>A" "" "" "" "MUC16(NM_024690.2):c.28066C>T (p.P9356S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8948704G>A" "" "likely benign" "" "0000292166" "0" "30" "19" "9050059" "9050059" "subst" "0.000244053" "01943" "MUC16_000006" "g.9050059C>A" "" "" "" "MUC16(NM_024690.2):c.31572G>T (p.M10524I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8939383C>A" "" "likely benign" "" "0000292167" "0" "50" "19" "9046965" "9046965" "subst" "0" "01943" "MUC16_000004" "g.9046965C>T" "" "" "" "MUC16(NM_024690.2):c.34666G>A (p.D11556N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8936289C>T" "" "VUS" "" "0000292168" "0" "30" "19" "9028289" "9028289" "subst" "0.000166668" "01943" "MUC16_000003" "g.9028289T>C" "" "" "" "MUC16(NM_024690.2):c.36503A>G (p.N12168S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8917613T>C" "" "likely benign" "" "0000292169" "0" "30" "19" "9020823" "9020823" "subst" "4.06151E-6" "01943" "MUC16_000002" "g.9020823T>C" "" "" "" "MUC16(NM_024690.2):c.37279A>G (p.I12427V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8910147T>C" "" "likely benign" "" "0000292170" "0" "30" "19" "9085659" "9085659" "subst" "6.91164E-5" "01943" "MUC16_000018" "g.9085659T>C" "" "" "" "MUC16(NM_024690.2):c.6156A>G (p.L2052=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8974983T>C" "" "likely benign" "" "0000326134" "0" "50" "19" "9017015" "9017015" "subst" "1.23618E-5" "01804" "MUC16_000001" "g.9017015A>G" "" "" "" "MUC16(NM_024690.2):c.37980T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8906339A>G" "" "VUS" "" "0000358093" "3" "50" "19" "9088370" "9088370" "subst" "0.000545265" "00006" "MUC16_000021" "g.9088370T>G" "" "{PMID:Santos-Cortez 2016:26805784}, {DOI:Santos-Cortez 2016:10.1016/j.ajhg.2015.12.004}" "" "" "" "Germline" "" "" "0" "" "" "g.8977694T>G" "" "VUS" "" "0000358099" "3" "30" "19" "9082634" "9082634" "subst" "0.000435009" "00006" "MUC16_000022" "g.9082634T>C" "" "{PMID:Santos-Cortez 2016:26805784}, {DOI:Santos-Cortez 2016:10.1016/j.ajhg.2015.12.004}" "" "" "" "Germline" "?" "rs571388611" "0" "" "" "g.8971958T>C" "" "likely benign" "" "0000480172" "3" "30" "19" "9068391" "9068391" "subst" "7.33084E-5" "00006" "MUC16_000025" "g.9068391G>A" "" "{PMID:Onat 2013:22892528}" "" "" "" "Germline" "no" "" "0" "" "" "g.8957715G>A" "" "likely benign" "" "0000480173" "3" "30" "19" "9068577" "9068577" "subst" "0.000606816" "00006" "MUC16_000026" "g.9068577G>A" "" "{PMID:Onat 2013:22892528}" "" "" "" "Germline" "no" "" "0" "" "" "g.8957901G>A" "" "likely benign" "" "0000499713" "20" "50" "19" "9076347" "9076347" "subst" "9.82487E-5" "01836" "MUC16_000027" "g.9076347G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.8965671G>C" "" "VUS" "" "0000499715" "10" "50" "19" "9074656" "9074656" "subst" "0" "01836" "MUC16_000028" "g.9074656C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.8963980C>T" "" "VUS" "" "0000568940" "0" "30" "19" "8959693" "8959693" "subst" "2.4474E-5" "01943" "MUC16_000029" "g.8959693C>T" "" "" "" "MUC16(NM_024690.2):c.43439G>A (p.R14480Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8849017C>T" "" "likely benign" "" "0000568941" "0" "50" "19" "8982193" "8982193" "subst" "0.000490652" "01943" "MUC16_000030" "g.8982193G>T" "" "" "" "MUC16(NM_024690.2):c.42082C>A (p.P14028T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8871517G>T" "" "VUS" "" "0000568942" "0" "30" "19" "8993036" "8993036" "subst" "0" "01804" "MUC16_000031" "g.8993036G>T" "" "" "" "MUC16(NM_024690.2):c.41723C>A (p.(Thr13908Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8882360G>T" "" "likely benign" "" "0000568944" "0" "50" "19" "8993373" "8993373" "subst" "8.1724E-6" "01943" "MUC16_000033" "g.8993373C>T" "" "" "" "MUC16(NM_024690.2):c.41716G>A (p.G13906S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8882697C>T" "" "VUS" "" "0000568945" "0" "50" "19" "8994202" "8994202" "subst" "0" "01943" "MUC16_000034" "g.8994202G>A" "" "" "" "MUC16(NM_024690.2):c.41483C>T (p.P13828L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8883526G>A" "" "VUS" "" "0000568947" "0" "30" "19" "8997507" "8997507" "subst" "0" "01804" "MUC16_000035" "g.8997507G>A" "" "" "" "MUC16(NM_024690.2):c.40915C>T (p.(Leu13639Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8886831G>A" "" "likely benign" "" "0000568949" "0" "30" "19" "9005620" "9005620" "subst" "0" "01943" "MUC16_000037" "g.9005620C>G" "" "" "" "MUC16(NM_024690.2):c.39786G>C (p.L13262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8894944C>G" "" "likely benign" "" "0000568955" "0" "30" "19" "9012895" "9012895" "dup" "0" "01804" "MUC16_000042" "g.9012895dup" "" "" "" "MUC16(NM_024690.2):c.38549dup (p.(Gly12851TrpfsTer65))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8902219dup" "" "likely benign" "" "0000568956" "0" "30" "19" "9017001" "9017001" "subst" "0" "01804" "MUC16_000043" "g.9017001A>C" "" "" "" "MUC16(NM_024690.2):c.37994T>G (p.(Ile12665Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8906325A>C" "" "likely benign" "" "0000568957" "0" "50" "19" "9017348" "9017348" "subst" "1.22003E-5" "01943" "MUC16_000044" "g.9017348T>A" "" "" "" "MUC16(NM_024690.2):c.37976A>T (p.N12659I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8906672T>A" "" "VUS" "" "0000568959" "0" "30" "19" "9019610" "9019610" "subst" "0.000105728" "01943" "MUC16_000046" "g.9019610G>A" "" "" "" "MUC16(NM_024690.2):c.37536C>T (p.P12512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8908934G>A" "" "likely benign" "" "0000568960" "0" "30" "19" "9019624" "9019624" "subst" "5.69555E-5" "01943" "MUC16_000047" "g.9019624G>A" "" "" "" "MUC16(NM_024690.2):c.37522C>T (p.R12508W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8908948G>A" "" "likely benign" "" "0000568961" "0" "30" "19" "9020071" "9020071" "subst" "0.000182808" "01943" "MUC16_000048" "g.9020071C>T" "" "" "" "MUC16(NM_024690.2):c.37424G>A (p.R12475Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8909395C>T" "" "likely benign" "" "0000568962" "0" "30" "19" "9025613" "9025613" "subst" "8.93466E-5" "01943" "MUC16_000049" "g.9025613C>T" "" "" "" "MUC16(NM_024690.2):c.36841G>A (p.G12281S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8914937C>T" "" "likely benign" "" "0000568963" "0" "30" "19" "9046012" "9046012" "subst" "8.15056E-6" "01943" "MUC16_000050" "g.9046012C>T" "" "" "" "MUC16(NM_024690.2):c.35619G>A (p.E11873=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8935336C>T" "" "likely benign" "" "0000568964" "0" "30" "19" "9046201" "9046201" "subst" "4.0656E-5" "01943" "MUC16_000051" "g.9046201A>G" "" "" "" "MUC16(NM_024690.2):c.35430T>C (p.T11810=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8935525A>G" "" "likely benign" "" "0000568965" "0" "30" "19" "9046305" "9046305" "subst" "0.000430712" "01943" "MUC16_000052" "g.9046305T>G" "" "" "" "MUC16(NM_024690.2):c.35326A>C (p.T11776P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8935629T>G" "" "likely benign" "" "0000568966" "0" "30" "19" "9046871" "9046871" "subst" "0.000126071" "01943" "MUC16_000053" "g.9046871G>A" "" "" "" "MUC16(NM_024690.2):c.34760C>T (p.T11587M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8936195G>A" "" "likely benign" "" "0000568967" "0" "30" "19" "9049127" "9049127" "subst" "4.06382E-5" "01943" "MUC16_000054" "g.9049127A>G" "" "" "" "MUC16(NM_024690.2):c.32504T>C (p.V10835A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8938451A>G" "" "likely benign" "" "0000568968" "0" "50" "19" "9049196" "9049196" "subst" "0" "01943" "MUC16_000055" "g.9049196G>C" "" "" "" "MUC16(NM_024690.2):c.32435C>G (p.T10812R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8938520G>C" "" "VUS" "" "0000568969" "0" "50" "19" "9057981" "9057981" "subst" "0" "01943" "MUC16_000056" "g.9057981G>A" "" "" "" "MUC16(NM_024690.2):c.29465C>T (p.S9822F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8947305G>A" "" "VUS" "" "0000568970" "0" "50" "19" "9061840" "9061840" "subst" "4.07352E-6" "01943" "MUC16_000057" "g.9061840T>C" "" "" "" "MUC16(NM_024690.2):c.25606A>G (p.M8536V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8951164T>C" "" "VUS" "" "0000568971" "0" "30" "19" "9062463" "9062463" "subst" "4.07083E-5" "01943" "MUC16_000058" "g.9062463G>T" "" "" "" "MUC16(NM_024690.2):c.24983C>A (p.T8328N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8951787G>T" "" "likely benign" "" "0000568972" "0" "50" "19" "9063219" "9063219" "subst" "0.00129789" "01943" "MUC16_000059" "g.9063219G>C" "" "" "" "MUC16(NM_024690.2):c.24227C>G (p.A8076G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8952543G>C" "" "VUS" "" "0000568973" "0" "30" "19" "9064361" "9064361" "subst" "7.36016E-5" "01943" "MUC16_000060" "g.9064361G>A" "" "" "" "MUC16(NM_024690.2):c.23085C>T (p.A7695=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8953685G>A" "" "likely benign" "" "0000568974" "0" "30" "19" "9068059" "9068059" "subst" "1.22181E-5" "01943" "MUC16_000061" "g.9068059C>T" "" "" "" "MUC16(NM_024690.2):c.19387G>A (p.D6463N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8957383C>T" "" "likely benign" "" "0000568975" "0" "30" "19" "9068455" "9068455" "subst" "6.10854E-5" "01943" "MUC16_000062" "g.9068455C>T" "" "" "" "MUC16(NM_024690.2):c.18991G>A (p.A6331T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8957779C>T" "" "likely benign" "" "0000568976" "0" "30" "19" "9069464" "9069464" "subst" "0.000280915" "01943" "MUC16_000063" "g.9069464G>A" "" "" "" "MUC16(NM_024690.2):c.17982C>T (p.L5994=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8958788G>A" "" "likely benign" "" "0000568977" "0" "50" "19" "9069693" "9069693" "subst" "0" "01943" "MUC16_000064" "g.9069693G>C" "" "" "" "MUC16(NM_024690.2):c.17753C>G (p.P5918R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8959017G>C" "" "VUS" "" "0000568978" "0" "30" "19" "9070941" "9070941" "subst" "6.51095E-5" "01943" "MUC16_000065" "g.9070941G>C" "" "" "" "MUC16(NM_024690.2):c.16505C>G (p.T5502R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8960265G>C" "" "likely benign" "" "0000568979" "0" "50" "19" "9071832" "9071832" "subst" "8.15036E-6" "01943" "MUC16_000066" "g.9071832G>A" "" "" "" "MUC16(NM_024690.2):c.15614C>T (p.T5205M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8961156G>A" "" "VUS" "" "0000568980" "0" "30" "19" "9071969" "9071969" "subst" "7.33407E-5" "01943" "MUC16_000067" "g.9071969A>C" "" "" "" "MUC16(NM_024690.2):c.15477T>G (p.T5159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8961293A>C" "" "likely benign" "" "0000568981" "0" "50" "19" "9074754" "9074754" "subst" "5.69736E-5" "01943" "MUC16_000068" "g.9074754G>A" "" "" "" "MUC16(NM_024690.2):c.12692C>T (p.T4231I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8964078G>A" "" "VUS" "" "0000568982" "0" "50" "19" "9075800" "9075800" "subst" "0.000285752" "01943" "MUC16_000069" "g.9075800G>C" "" "" "" "MUC16(NM_024690.2):c.11646C>G (p.I3882M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8965124G>C" "" "VUS" "" "0000568983" "0" "30" "19" "9076716" "9076716" "subst" "5.69106E-5" "01943" "MUC16_000070" "g.9076716G>A" "" "" "" "MUC16(NM_024690.2):c.10730C>T (p.T3577I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8966040G>A" "" "likely benign" "" "0000568984" "0" "30" "19" "9077735" "9077735" "subst" "0" "01943" "MUC16_000071" "g.9077735G>A" "" "" "" "MUC16(NM_024690.2):c.9711C>T (p.P3237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8967059G>A" "" "likely benign" "" "0000568985" "0" "30" "19" "9084221" "9084221" "subst" "4.06616E-6" "01943" "MUC16_000072" "g.9084221G>T" "" "" "" "MUC16(NM_024690.2):c.7594C>A (p.L2532I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8973545G>T" "" "likely benign" "" "0000568986" "0" "50" "19" "9085145" "9085145" "subst" "0.00017496" "01943" "MUC16_000073" "g.9085145C>T" "" "" "" "MUC16(NM_024690.2):c.6670G>A (p.A2224T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8974469C>T" "" "VUS" "" "0000568987" "0" "30" "19" "9086982" "9086982" "subst" "0.000300701" "01943" "MUC16_000074" "g.9086982T>C" "" "" "" "MUC16(NM_024690.2):c.4833A>G (p.T1611=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8976306T>C" "" "likely benign" "" "0000568988" "0" "50" "19" "9087368" "9087368" "subst" "3.25489E-5" "01943" "MUC16_000075" "g.9087368T>C" "" "" "" "MUC16(NM_024690.2):c.4447A>G (p.M1483V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8976692T>C" "" "VUS" "" "0000568989" "0" "30" "19" "9087987" "9087987" "subst" "0.000609543" "01943" "MUC16_000076" "g.9087987G>A" "" "" "" "MUC16(NM_024690.2):c.3828C>T (p.G1276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8977311G>A" "" "likely benign" "" "0000568990" "0" "30" "19" "9088759" "9088759" "subst" "0" "01943" "MUC16_000077" "g.9088759G>A" "" "" "" "MUC16(NM_024690.2):c.3056C>T (p.T1019I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8978083G>A" "" "likely benign" "" "0000568991" "0" "50" "19" "9091774" "9091774" "subst" "0" "01943" "MUC16_000078" "g.9091774G>A" "" "" "" "MUC16(NM_024690.2):c.41C>T (p.T14I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8981098G>A" "" "VUS" "" "0000617966" "0" "50" "19" "8997119" "8997119" "subst" "0.000235592" "01943" "MUC16_000079" "g.8997119T>C" "" "" "" "MUC16(NM_024690.2):c.41077A>G (p.R13693G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8886443T>C" "" "VUS" "" "0000617967" "0" "30" "19" "9007514" "9007514" "subst" "0" "01943" "MUC16_000080" "g.9007514T>A" "" "" "" "MUC16(NM_024690.2):c.39454A>T (p.T13152S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8896838T>A" "" "likely benign" "" "0000617968" "0" "50" "19" "9033657" "9033657" "subst" "0.00041422" "01943" "MUC16_000081" "g.9033657G>A" "" "" "" "MUC16(NM_024690.2):c.36280C>T (p.P12094S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8922981G>A" "" "VUS" "" "0000617969" "0" "30" "19" "9064226" "9064226" "subst" "0.000122156" "01943" "MUC16_000083" "g.9064226G>T" "" "" "" "MUC16(NM_024690.2):c.23220C>A (p.T7740=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8953550G>T" "" "likely benign" "" "0000617970" "0" "30" "19" "9069568" "9069568" "subst" "0.000264561" "01943" "MUC16_000084" "g.9069568G>A" "" "" "" "MUC16(NM_024690.2):c.17878C>T (p.L5960F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8958892G>A" "" "likely benign" "" "0000617971" "0" "30" "19" "9069911" "9069911" "subst" "0.000272313" "01943" "MUC16_000085" "g.9069911G>A" "" "" "" "MUC16(NM_024690.2):c.17535C>T (p.T5845=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8959235G>A" "" "likely benign" "" "0000624115" "0" "50" "19" "9056455" "9056455" "subst" "1.22182E-5" "01943" "MUC16_000082" "g.9056455G>A" "" "" "" "MUC16(NM_024690.2):c.30991C>T (p.P10331S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8945779G>A" "" "VUS" "" "0000624116" "0" "30" "19" "9087456" "9087456" "subst" "0.00010976" "01943" "MUC16_000086" "g.9087456G>A" "" "" "" "MUC16(NM_024690.2):c.4359C>T (p.I1453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8976780G>A" "" "likely benign" "" "0000624117" "0" "50" "19" "9087629" "9087629" "subst" "0.000109732" "01943" "MUC16_000087" "g.9087629A>C" "" "" "" "MUC16(NM_024690.2):c.4186T>G (p.L1396V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8976953A>C" "" "VUS" "" "0000681551" "0" "30" "19" "9083988" "9083988" "subst" "4.47467E-5" "01943" "MUC16_000088" "g.9083988T>C" "" "" "" "MUC16(NM_024690.2):c.7827A>G (p.S2609=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692927" "0" "30" "19" "9057211" "9057211" "subst" "4.07365E-6" "01943" "MUC16_000089" "g.9057211T>A" "" "" "" "MUC16(NM_024690.2):c.30235A>T (p.T10079S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692928" "0" "50" "19" "9063862" "9063862" "subst" "4.07933E-6" "01943" "MUC16_000090" "g.9063862C>T" "" "" "" "MUC16(NM_024690.2):c.23584G>A (p.E7862K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727589" "0" "30" "19" "9010982" "9010982" "subst" "7.72395E-5" "01943" "MUC16_000091" "g.9010982G>A" "" "" "" "MUC16(NM_024690.2):c.38936C>T (p.A12979V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727590" "0" "30" "19" "9050141" "9050141" "subst" "0" "01943" "MUC16_000092" "g.9050141C>G" "" "" "" "MUC16(NM_024690.2):c.31490G>C (p.S10497T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727591" "0" "50" "19" "9071043" "9071043" "subst" "2.84947E-5" "01943" "MUC16_000093" "g.9071043G>A" "" "" "" "MUC16(NM_024690.2):c.16403C>T (p.T5468I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727592" "0" "30" "19" "9072307" "9072307" "subst" "3.25831E-5" "01943" "MUC16_000094" "g.9072307G>A" "" "" "" "MUC16(NM_024690.2):c.15139C>T (p.P5047S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727593" "0" "30" "19" "9074805" "9074805" "subst" "2.85111E-5" "01943" "MUC16_000095" "g.9074805C>T" "" "" "" "MUC16(NM_024690.2):c.12641G>A (p.G4214D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727594" "0" "30" "19" "9083882" "9083882" "subst" "0" "01943" "MUC16_000096" "g.9083882G>A" "" "" "" "MUC16(NM_024690.2):c.7933C>T (p.P2645S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727595" "0" "30" "19" "9084276" "9084276" "subst" "4.06474E-5" "01943" "MUC16_000097" "g.9084276G>A" "" "" "" "MUC16(NM_024690.2):c.7539C>T (p.D2513=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809129" "0" "50" "19" "8971759" "8971759" "subst" "4.06375E-6" "01943" "MUC16_000098" "g.8971759T>C" "" "" "" "MUC16(NM_024690.2):c.42833A>G (p.E14278G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809130" "0" "30" "19" "8996403" "8996403" "subst" "1.22169E-5" "01943" "MUC16_000099" "g.8996403C>G" "" "" "" "MUC16(NM_024690.2):c.41169G>C (p.L13723=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809131" "0" "50" "19" "8997530" "8997530" "subst" "0.000241043" "01943" "MUC16_000100" "g.8997530C>A" "" "" "" "MUC16(NM_024690.2):c.40892G>T (p.S13631I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809132" "0" "30" "19" "9000498" "9000498" "subst" "0" "01943" "MUC16_000101" "g.9000498T>C" "" "" "" "MUC16(NM_024690.2):c.40486A>G (p.M13496V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809133" "0" "50" "19" "9003357" "9003357" "subst" "0.000105693" "01943" "MUC16_000102" "g.9003357T>C" "" "" "" "MUC16(NM_024690.2):c.40078A>G (p.M13360V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809134" "0" "50" "19" "9003360" "9003360" "subst" "2.03277E-5" "01943" "MUC16_000103" "g.9003360G>A" "" "" "" "MUC16(NM_024690.2):c.40075C>T (p.L13359F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809135" "0" "30" "19" "9027221" "9027221" "subst" "3.66127E-5" "01943" "MUC16_000104" "g.9027221G>A" "" "" "" "MUC16(NM_024690.2):c.36665C>T (p.P12222L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809136" "0" "30" "19" "9045577" "9045577" "subst" "3.78183E-5" "01943" "MUC16_000105" "g.9045577C>G" "" "" "" "MUC16(NM_024690.2):c.36054G>C (p.V12018=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809137" "0" "30" "19" "9047369" "9047369" "subst" "3.25087E-5" "01943" "MUC16_000106" "g.9047369G>T" "" "" "" "MUC16(NM_024690.2):c.34262C>A (p.T11421N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809138" "0" "30" "19" "9049655" "9049655" "subst" "0.000146276" "01943" "MUC16_000107" "g.9049655G>A" "" "" "" "MUC16(NM_024690.2):c.31976C>T (p.S10659L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809139" "0" "30" "19" "9049871" "9049871" "subst" "2.84731E-5" "01943" "MUC16_000108" "g.9049871T>A" "" "" "" "MUC16(NM_024690.2):c.31760A>T (p.D10587V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809140" "0" "30" "19" "9056511" "9056511" "subst" "0" "01943" "MUC16_000109" "g.9056511G>A" "" "" "" "MUC16(NM_024690.2):c.30935C>T (p.P10312L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809141" "0" "30" "19" "9060684" "9060684" "subst" "0.000126266" "01943" "MUC16_000110" "g.9060684G>T" "" "" "" "MUC16(NM_024690.2):c.26762C>A (p.A8921D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809142" "0" "30" "19" "9067531" "9067531" "subst" "2.85223E-5" "01943" "MUC16_000111" "g.9067531G>A" "" "" "" "MUC16(NM_024690.2):c.19915C>T (p.P6639S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809143" "0" "30" "19" "9076570" "9076570" "subst" "1.62807E-5" "01943" "MUC16_000112" "g.9076570C>G" "" "" "" "MUC16(NM_024690.2):c.10876G>C (p.D3626H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809144" "0" "50" "19" "9084514" "9084514" "subst" "0.000685345" "01943" "MUC16_000113" "g.9084514G>A" "" "" "" "MUC16(NM_024690.2):c.7301C>T (p.T2434I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809145" "0" "30" "19" "9084641" "9084641" "subst" "0.000130083" "01943" "MUC16_000114" "g.9084641T>C" "" "" "" "MUC16(NM_024690.2):c.7174A>G (p.S2392G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809146" "0" "50" "19" "9086281" "9086281" "subst" "0.000496545" "01943" "MUC16_000115" "g.9086281A>T" "" "" "" "MUC16(NM_024690.2):c.5534T>A (p.L1845H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809147" "0" "50" "19" "9087262" "9087262" "subst" "0" "01943" "MUC16_000116" "g.9087262T>C" "" "" "" "MUC16(NM_024690.2):c.4553A>G (p.D1518G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809148" "0" "50" "19" "9088453" "9088453" "subst" "3.25478E-5" "01943" "MUC16_000117" "g.9088453G>A" "" "" "" "MUC16(NM_024690.2):c.3362C>T (p.P1121L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809149" "0" "30" "19" "9090069" "9090069" "subst" "0.000170758" "01943" "MUC16_000118" "g.9090069A>T" "" "" "" "MUC16(NM_024690.2):c.1746T>A (p.L582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809150" "0" "30" "19" "9090795" "9090795" "subst" "0.000179206" "01943" "MUC16_000119" "g.9090795G>A" "" "" "" "MUC16(NM_024690.2):c.1020C>T (p.A340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855746" "0" "30" "19" "9046659" "9046659" "subst" "0" "01943" "MUC16_000121" "g.9046659T>C" "" "" "" "MUC16(NM_024690.2):c.34972A>G (p.T11658A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855747" "0" "50" "19" "9068077" "9068077" "subst" "0" "01943" "MUC16_000123" "g.9068077G>A" "" "" "" "MUC16(NM_024690.2):c.19369C>T (p.Q6457*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855748" "0" "30" "19" "9076886" "9076886" "subst" "8.13167E-6" "01943" "MUC16_000126" "g.9076886T>C" "" "" "" "MUC16(NM_024690.2):c.10560A>G (p.S3520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855749" "0" "30" "19" "9087586" "9087586" "subst" "4.46955E-5" "01943" "MUC16_000128" "g.9087586G>A" "" "" "" "MUC16(NM_024690.2):c.4229C>T (p.T1410I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855750" "0" "30" "19" "9089561" "9089561" "subst" "4.06795E-6" "01943" "MUC16_000129" "g.9089561T>C" "" "" "" "MUC16(NM_024690.2):c.2254A>G (p.I752V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866370" "0" "50" "19" "9006365" "9006365" "subst" "0" "01943" "MUC16_000120" "g.9006365C>A" "" "" "" "MUC16(NM_024690.2):c.39653G>T (p.G13218V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866371" "0" "50" "19" "9067856" "9067856" "subst" "0" "01943" "MUC16_000122" "g.9067856T>A" "" "" "" "MUC16(NM_024690.2):c.19590A>T (p.L6530F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866372" "0" "50" "19" "9069672" "9069672" "subst" "2.84852E-5" "01943" "MUC16_000124" "g.9069672C>T" "" "" "" "MUC16(NM_024690.2):c.17774G>A (p.S5925N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866373" "0" "50" "19" "9073855" "9073855" "subst" "4.06971E-5" "01943" "MUC16_000125" "g.9073855T>A" "" "" "" "MUC16(NM_024690.2):c.13591A>T (p.I4531F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866374" "0" "50" "19" "9082960" "9082960" "subst" "0.000162639" "01943" "MUC16_000127" "g.9082960G>A" "" "" "" "MUC16(NM_024690.2):c.8855C>T (p.S2952L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915335" "0" "50" "19" "9069204" "9069205" "del" "0" "02327" "MUC16_000130" "g.9069204_9069205del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915336" "0" "30" "19" "9088447" "9088447" "subst" "2.84824E-5" "02327" "MUC16_000131" "g.9088447T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005235" "0" "30" "19" "8987060" "8987060" "subst" "0" "01804" "MUC16_000140" "g.8987060C>G" "" "" "" "MUC16(NM_024690.2):c.41930G>C (p.(Arg13977Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005236" "0" "30" "19" "9000437" "9000437" "subst" "0.000659932" "01804" "MUC16_000141" "g.9000437C>T" "" "" "" "MUC16(NM_024690.2):c.40542+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005237" "0" "50" "19" "9005588" "9005588" "subst" "0" "01804" "MUC16_000142" "g.9005588G>T" "" "" "" "MUC16(NM_024690.2):c.39818C>A (p.(Thr13273Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005238" "0" "50" "19" "9047084" "9047084" "subst" "0" "01804" "MUC16_000143" "g.9047084G>C" "" "" "" "MUC16(NM_024690.2):c.34547C>G (p.(Thr11516Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005239" "0" "50" "19" "9058489" "9058489" "subst" "0.000113879" "01804" "MUC16_000144" "g.9058489T>C" "" "" "" "MUC16(NM_024690.2):c.28957A>G (p.(Ile9653Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005240" "0" "30" "19" "9061537" "9061537" "subst" "0.00112353" "01804" "MUC16_000145" "g.9061537C>T" "" "" "" "MUC16(NM_024690.2):c.25909G>A (p.(Glu8637Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005241" "0" "30" "19" "9063073" "9063073" "subst" "4.07352E-6" "01804" "MUC16_000146" "g.9063073T>C" "" "" "" "MUC16(NM_024690.2):c.24373A>G (p.(Lys8125Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005242" "0" "50" "19" "9064438" "9064438" "subst" "4.91155E-5" "01804" "MUC16_000147" "g.9064438G>A" "" "" "" "MUC16(NM_024690.2):c.23008C>T (p.(Pro7670Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005243" "0" "30" "19" "9068904" "9068904" "subst" "8.94469E-5" "01804" "MUC16_000148" "g.9068904G>T" "" "" "" "MUC16(NM_024690.2):c.18542C>A (p.(Ala6181Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005244" "0" "50" "19" "9074124" "9074135" "dup" "0" "01804" "MUC16_000149" "g.9074124_9074135dup" "" "" "" "MUC16(NM_024690.2):c.13312_13323dupGATGTGTCCTGG (p.(Trp4441_Thr4442insAspValSerTrp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043241" "0" "30" "19" "9074697" "9074697" "subst" "0.000768711" "01804" "MUC16_000150" "g.9074697G>A" "" "" "" "MUC16(NM_024690.2):c.12749C>T (p.(Thr4250Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043242" "0" "30" "19" "9077544" "9077544" "subst" "0.000256095" "01804" "MUC16_000151" "g.9077544G>A" "" "" "" "MUC16(NM_024690.2):c.9902C>T (p.(Pro3301Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MUC16 ## Count = 136 "{{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}}" "0000254648" "00014079" "30" "36002" "0" "36002" "0" "c.36002T>G" "r.(?)" "p.(Leu12001Arg)" "" "0000254712" "00014079" "30" "34625" "0" "34625" "0" "c.34625T>C" "r.(?)" "p.(Met11542Thr)" "" "0000254983" "00014079" "30" "6001" "0" "6001" "0" "c.6001T>C" "r.(?)" "p.(Ser2001Pro)" "" "0000256520" "00014079" "50" "2434" "0" "2434" "0" "c.2434T>C" "r.(?)" "p.(Ser812Pro)" "" "0000292154" "00014079" "30" "10131" "0" "10131" "0" "c.10131C>T" "r.(?)" "p.(Asn3377=)" "" "0000292155" "00014079" "30" "12382" "0" "12382" "0" "c.12382A>G" "r.(?)" "p.(Arg4128Gly)" "" "0000292156" "00014079" "30" "14975" "0" "14975" "0" "c.14975A>G" "r.(?)" "p.(Asp4992Gly)" "" "0000292157" "00014079" "30" "16838" "0" "16838" "0" "c.16838C>G" "r.(?)" "p.(Thr5613Ser)" "" "0000292158" "00014079" "30" "20087" "0" "20087" "0" "c.20087C>T" "r.(?)" "p.(Ser6696Phe)" "" "0000292159" "00014079" "30" "21981" "0" "21981" "0" "c.21981G>A" "r.(?)" "p.(Lys7327=)" "" "0000292160" "00014079" "50" "2492" "0" "2492" "0" "c.2492C>T" "r.(?)" "p.(Ser831Leu)" "" "0000292161" "00014079" "30" "25105" "0" "25105" "0" "c.25105G>A" "r.(?)" "p.(Val8369Ile)" "" "0000292162" "00014079" "50" "26348" "0" "26348" "0" "c.26348C>G" "r.(?)" "p.(Ala8783Gly)" "" "0000292163" "00014079" "50" "26878" "0" "26878" "0" "c.26878C>T" "r.(?)" "p.(Pro8960Ser)" "" "0000292164" "00014079" "50" "28064" "0" "28064" "0" "c.28064C>T" "r.(?)" "p.(Thr9355Ile)" "" "0000292165" "00014079" "30" "28066" "0" "28066" "0" "c.28066C>T" "r.(?)" "p.(Pro9356Ser)" "" "0000292166" "00014079" "30" "31572" "0" "31572" "0" "c.31572G>T" "r.(?)" "p.(Met10524Ile)" "" "0000292167" "00014079" "50" "34666" "0" "34666" "0" "c.34666G>A" "r.(?)" "p.(Asp11556Asn)" "" "0000292168" "00014079" "30" "36503" "0" "36503" "0" "c.36503A>G" "r.(?)" "p.(Asn12168Ser)" "" "0000292169" "00014079" "30" "37279" "0" "37279" "0" "c.37279A>G" "r.(?)" "p.(Ile12427Val)" "" "0000292170" "00014079" "30" "6156" "0" "6156" "0" "c.6156A>G" "r.(?)" "p.(Leu2052=)" "" "0000326134" "00014079" "50" "37980" "0" "37980" "0" "c.37980T>C" "r.(?)" "p.(Gly12660=)" "" "0000358093" "00014079" "50" "3445" "0" "3445" "0" "c.3445A>C" "r.(?)" "p.(Thr1149Pro)" "1" "0000358099" "00014079" "30" "9181" "0" "9181" "0" "c.9181A>G" "r.(?)" "p.(Met3061Val)" "" "0000480172" "00014079" "30" "19055" "0" "19055" "0" "c.19055C>T" "r.(?)" "p.(Ala6352Val)" "" "0000480173" "00014079" "30" "18869" "0" "18869" "0" "c.18869C>T" "r.(?)" "p.(Thr6290Ile)" "" "0000499713" "00014079" "50" "11099" "0" "11099" "0" "c.11099C>G" "r.(?)" "p.(Thr3700Arg)" "" "0000499715" "00014079" "50" "12790" "0" "12790" "0" "c.12790G>A" "r.(?)" "p.(Gly4264Ser)" "" "0000568940" "00014079" "30" "43439" "0" "43439" "0" "c.43439G>A" "r.(?)" "p.(Arg14480Gln)" "" "0000568941" "00014079" "50" "42082" "0" "42082" "0" "c.42082C>A" "r.(?)" "p.(Pro14028Thr)" "" "0000568942" "00014079" "30" "41723" "0" "41723" "0" "c.41723C>A" "r.(?)" "p.(Thr13908Asn)" "" "0000568944" "00014079" "50" "41716" "0" "41716" "0" "c.41716G>A" "r.(?)" "p.(Gly13906Ser)" "" "0000568945" "00014079" "50" "41483" "0" "41483" "0" "c.41483C>T" "r.(?)" "p.(Pro13828Leu)" "" "0000568947" "00014079" "30" "40915" "0" "40915" "0" "c.40915C>T" "r.(?)" "p.(Leu13639Phe)" "" "0000568949" "00014079" "30" "39786" "0" "39786" "0" "c.39786G>C" "r.(?)" "p.(Leu13262=)" "" "0000568955" "00014079" "30" "38549" "0" "38549" "0" "c.38549dup" "r.(?)" "p.(Gly12851TrpfsTer65)" "" "0000568956" "00014079" "30" "37994" "0" "37994" "0" "c.37994T>G" "r.(?)" "p.(Ile12665Ser)" "" "0000568957" "00014079" "50" "37976" "0" "37976" "0" "c.37976A>T" "r.(?)" "p.(Asn12659Ile)" "" "0000568959" "00014079" "30" "37536" "0" "37536" "0" "c.37536C>T" "r.(?)" "p.(Pro12512=)" "" "0000568960" "00014079" "30" "37522" "0" "37522" "0" "c.37522C>T" "r.(?)" "p.(Arg12508Trp)" "" "0000568961" "00014079" "30" "37424" "0" "37424" "0" "c.37424G>A" "r.(?)" "p.(Arg12475Gln)" "" "0000568962" "00014079" "30" "36841" "0" "36841" "0" "c.36841G>A" "r.(?)" "p.(Gly12281Ser)" "" "0000568963" "00014079" "30" "35619" "0" "35619" "0" "c.35619G>A" "r.(?)" "p.(Glu11873=)" "" "0000568964" "00014079" "30" "35430" "0" "35430" "0" "c.35430T>C" "r.(?)" "p.(Thr11810=)" "" "0000568965" "00014079" "30" "35326" "0" "35326" "0" "c.35326A>C" "r.(?)" "p.(Thr11776Pro)" "" "0000568966" "00014079" "30" "34760" "0" "34760" "0" "c.34760C>T" "r.(?)" "p.(Thr11587Met)" "" "0000568967" "00014079" "30" "32504" "0" "32504" "0" "c.32504T>C" "r.(?)" "p.(Val10835Ala)" "" "0000568968" "00014079" "50" "32435" "0" "32435" "0" "c.32435C>G" "r.(?)" "p.(Thr10812Arg)" "" "0000568969" "00014079" "50" "29465" "0" "29465" "0" "c.29465C>T" "r.(?)" "p.(Ser9822Phe)" "" "0000568970" "00014079" "50" "25606" "0" "25606" "0" "c.25606A>G" "r.(?)" "p.(Met8536Val)" "" "0000568971" "00014079" "30" "24983" "0" "24983" "0" "c.24983C>A" "r.(?)" "p.(Thr8328Asn)" "" "0000568972" "00014079" "50" "24227" "0" "24227" "0" "c.24227C>G" "r.(?)" "p.(Ala8076Gly)" "" "0000568973" "00014079" "30" "23085" "0" "23085" "0" "c.23085C>T" "r.(?)" "p.(Ala7695=)" "" "0000568974" "00014079" "30" "19387" "0" "19387" "0" "c.19387G>A" "r.(?)" "p.(Asp6463Asn)" "" "0000568975" "00014079" "30" "18991" "0" "18991" "0" "c.18991G>A" "r.(?)" "p.(Ala6331Thr)" "" "0000568976" "00014079" "30" "17982" "0" "17982" "0" "c.17982C>T" "r.(?)" "p.(Leu5994=)" "" "0000568977" "00014079" "50" "17753" "0" "17753" "0" "c.17753C>G" "r.(?)" "p.(Pro5918Arg)" "" "0000568978" "00014079" "30" "16505" "0" "16505" "0" "c.16505C>G" "r.(?)" "p.(Thr5502Arg)" "" "0000568979" "00014079" "50" "15614" "0" "15614" "0" "c.15614C>T" "r.(?)" "p.(Thr5205Met)" "" "0000568980" "00014079" "30" "15477" "0" "15477" "0" "c.15477T>G" "r.(?)" "p.(Thr5159=)" "" "0000568981" "00014079" "50" "12692" "0" "12692" "0" "c.12692C>T" "r.(?)" "p.(Thr4231Ile)" "" "0000568982" "00014079" "50" "11646" "0" "11646" "0" "c.11646C>G" "r.(?)" "p.(Ile3882Met)" "" "0000568983" "00014079" "30" "10730" "0" "10730" "0" "c.10730C>T" "r.(?)" "p.(Thr3577Ile)" "" "0000568984" "00014079" "30" "9711" "0" "9711" "0" "c.9711C>T" "r.(?)" "p.(Pro3237=)" "" "0000568985" "00014079" "30" "7594" "0" "7594" "0" "c.7594C>A" "r.(?)" "p.(Leu2532Ile)" "" "0000568986" "00014079" "50" "6670" "0" "6670" "0" "c.6670G>A" "r.(?)" "p.(Ala2224Thr)" "" "0000568987" "00014079" "30" "4833" "0" "4833" "0" "c.4833A>G" "r.(?)" "p.(Thr1611=)" "" "0000568988" "00014079" "50" "4447" "0" "4447" "0" "c.4447A>G" "r.(?)" "p.(Met1483Val)" "" "0000568989" "00014079" "30" "3828" "0" "3828" "0" "c.3828C>T" "r.(?)" "p.(Gly1276=)" "" "0000568990" "00014079" "30" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Ile)" "" "0000568991" "00014079" "50" "41" "0" "41" "0" "c.41C>T" "r.(?)" "p.(Thr14Ile)" "" "0000617966" "00014079" "50" "41077" "0" "41077" "0" "c.41077A>G" "r.(?)" "p.(Arg13693Gly)" "" "0000617967" "00014079" "30" "39454" "0" "39454" "0" "c.39454A>T" "r.(?)" "p.(Thr13152Ser)" "" "0000617968" "00014079" "50" "36280" "0" "36280" "0" "c.36280C>T" "r.(?)" "p.(Pro12094Ser)" "" "0000617969" "00014079" "30" "23220" "0" "23220" "0" "c.23220C>A" "r.(?)" "p.(Thr7740=)" "" "0000617970" "00014079" "30" "17878" "0" "17878" "0" "c.17878C>T" "r.(?)" "p.(Leu5960Phe)" "" "0000617971" "00014079" "30" "17535" "0" "17535" "0" "c.17535C>T" "r.(?)" "p.(Thr5845=)" "" "0000624115" "00014079" "50" "30991" "0" "30991" "0" "c.30991C>T" "r.(?)" "p.(Pro10331Ser)" "" "0000624116" "00014079" "30" "4359" "0" "4359" "0" "c.4359C>T" "r.(?)" "p.(Ile1453=)" "" "0000624117" "00014079" "50" "4186" "0" "4186" "0" "c.4186T>G" "r.(?)" "p.(Leu1396Val)" "" "0000681551" "00014079" "30" "7827" "0" "7827" "0" "c.7827A>G" "r.(?)" "p.(Ser2609=)" "" "0000692927" "00014079" "30" "30235" "0" "30235" "0" "c.30235A>T" "r.(?)" "p.(Thr10079Ser)" "" "0000692928" "00014079" "50" "23584" "0" "23584" "0" "c.23584G>A" "r.(?)" "p.(Glu7862Lys)" "" "0000727589" "00014079" "30" "38936" "0" "38936" "0" "c.38936C>T" "r.(?)" "p.(Ala12979Val)" "" "0000727590" "00014079" "30" "31490" "0" "31490" "0" "c.31490G>C" "r.(?)" "p.(Ser10497Thr)" "" "0000727591" "00014079" "50" "16403" "0" "16403" "0" "c.16403C>T" "r.(?)" "p.(Thr5468Ile)" "" "0000727592" "00014079" "30" "15139" "0" "15139" "0" "c.15139C>T" "r.(?)" "p.(Pro5047Ser)" "" "0000727593" "00014079" "30" "12641" "0" "12641" "0" "c.12641G>A" "r.(?)" "p.(Gly4214Asp)" "" "0000727594" "00014079" "30" "7933" "0" "7933" "0" "c.7933C>T" "r.(?)" "p.(Pro2645Ser)" "" "0000727595" "00014079" "30" "7539" "0" "7539" "0" "c.7539C>T" "r.(?)" "p.(Asp2513=)" "" "0000809129" "00014079" "50" "42833" "0" "42833" "0" "c.42833A>G" "r.(?)" "p.(Glu14278Gly)" "" "0000809130" "00014079" "30" "41169" "0" "41169" "0" "c.41169G>C" "r.(?)" "p.(Leu13723=)" "" "0000809131" "00014079" "50" "40892" "0" "40892" "0" "c.40892G>T" "r.(?)" "p.(Ser13631Ile)" "" "0000809132" "00014079" "30" "40486" "0" "40486" "0" "c.40486A>G" "r.(?)" "p.(Met13496Val)" "" "0000809133" "00014079" "50" "40078" "0" "40078" "0" "c.40078A>G" "r.(?)" "p.(Met13360Val)" "" "0000809134" "00014079" "50" "40075" "0" "40075" "0" "c.40075C>T" "r.(?)" "p.(Leu13359Phe)" "" "0000809135" "00014079" "30" "36665" "0" "36665" "0" "c.36665C>T" "r.(?)" "p.(Pro12222Leu)" "" "0000809136" "00014079" "30" "36054" "0" "36054" "0" "c.36054G>C" "r.(?)" "p.(Val12018=)" "" "0000809137" "00014079" "30" "34262" "0" "34262" "0" "c.34262C>A" "r.(?)" "p.(Thr11421Asn)" "" "0000809138" "00014079" "30" "31976" "0" "31976" "0" "c.31976C>T" "r.(?)" "p.(Ser10659Leu)" "" "0000809139" "00014079" "30" "31760" "0" "31760" "0" "c.31760A>T" "r.(?)" "p.(Asp10587Val)" "" "0000809140" "00014079" "30" "30935" "0" "30935" "0" "c.30935C>T" "r.(?)" "p.(Pro10312Leu)" "" "0000809141" "00014079" "30" "26762" "0" "26762" "0" "c.26762C>A" "r.(?)" "p.(Ala8921Asp)" "" "0000809142" "00014079" "30" "19915" "0" "19915" "0" "c.19915C>T" "r.(?)" "p.(Pro6639Ser)" "" "0000809143" "00014079" "30" "10876" "0" "10876" "0" "c.10876G>C" "r.(?)" "p.(Asp3626His)" "" "0000809144" "00014079" "50" "7301" "0" "7301" "0" "c.7301C>T" "r.(?)" "p.(Thr2434Ile)" "" "0000809145" "00014079" "30" "7174" "0" "7174" "0" "c.7174A>G" "r.(?)" "p.(Ser2392Gly)" "" "0000809146" "00014079" "50" "5534" "0" "5534" "0" "c.5534T>A" "r.(?)" "p.(Leu1845His)" "" "0000809147" "00014079" "50" "4553" "0" "4553" "0" "c.4553A>G" "r.(?)" "p.(Asp1518Gly)" "" "0000809148" "00014079" "50" "3362" "0" "3362" "0" "c.3362C>T" "r.(?)" "p.(Pro1121Leu)" "" "0000809149" "00014079" "30" "1746" "0" "1746" "0" "c.1746T>A" "r.(?)" "p.(Leu582=)" "" "0000809150" "00014079" "30" "1020" "0" "1020" "0" "c.1020C>T" "r.(?)" "p.(Ala340=)" "" "0000855746" "00014079" "30" "34972" "0" "34972" "0" "c.34972A>G" "r.(?)" "p.(Thr11658Ala)" "" "0000855747" "00014079" "50" "19369" "0" "19369" "0" "c.19369C>T" "r.(?)" "p.(Gln6457*)" "" "0000855748" "00014079" "30" "10560" "0" "10560" "0" "c.10560A>G" "r.(?)" "p.(Ser3520=)" "" "0000855749" "00014079" "30" "4229" "0" "4229" "0" "c.4229C>T" "r.(?)" "p.(Thr1410Ile)" "" "0000855750" "00014079" "30" "2254" "0" "2254" "0" "c.2254A>G" "r.(?)" "p.(Ile752Val)" "" "0000866370" "00014079" "50" "39653" "0" "39653" "0" "c.39653G>T" "r.(?)" "p.(Gly13218Val)" "" "0000866371" "00014079" "50" "19590" "0" "19590" "0" "c.19590A>T" "r.(?)" "p.(Leu6530Phe)" "" "0000866372" "00014079" "50" "17774" "0" "17774" "0" "c.17774G>A" "r.(?)" "p.(Ser5925Asn)" "" "0000866373" "00014079" "50" "13591" "0" "13591" "0" "c.13591A>T" "r.(?)" "p.(Ile4531Phe)" "" "0000866374" "00014079" "50" "8855" "0" "8855" "0" "c.8855C>T" "r.(?)" "p.(Ser2952Leu)" "" "0000915335" "00014079" "50" "18241" "0" "18242" "0" "c.18241_18242del" "r.(?)" "p.(Asp6081Glnfs*26)" "" "0000915336" "00014079" "30" "3368" "0" "3368" "0" "c.3368A>G" "r.(?)" "p.(Asp1123Gly)" "" "0001005235" "00014079" "30" "41930" "0" "41930" "0" "c.41930G>C" "r.(?)" "p.(Arg13977Thr)" "" "0001005236" "00014079" "30" "40542" "5" "40542" "5" "c.40542+5G>A" "r.spl?" "p.?" "" "0001005237" "00014079" "50" "39818" "0" "39818" "0" "c.39818C>A" "r.(?)" "p.(Thr13273Asn)" "" "0001005238" "00014079" "50" "34547" "0" "34547" "0" "c.34547C>G" "r.(?)" "p.(Thr11516Ser)" "" "0001005239" "00014079" "50" "28957" "0" "28957" "0" "c.28957A>G" "r.(?)" "p.(Ile9653Val)" "" "0001005240" "00014079" "30" "25909" "0" "25909" "0" "c.25909G>A" "r.(?)" "p.(Glu8637Lys)" "" "0001005241" "00014079" "30" "24373" "0" "24373" "0" "c.24373A>G" "r.(?)" "p.(Lys8125Glu)" "" "0001005242" "00014079" "50" "23008" "0" "23008" "0" "c.23008C>T" "r.(?)" "p.(Pro7670Ser)" "" "0001005243" "00014079" "30" "18542" "0" "18542" "0" "c.18542C>A" "r.(?)" "p.(Ala6181Glu)" "" "0001005244" "00014079" "50" "13312" "0" "13323" "0" "c.13312_13323dup" "r.(?)" "p.(Asp4438_Trp4441dup)" "" "0001043241" "00014079" "30" "12749" "0" "12749" "0" "c.12749C>T" "r.(?)" "p.(Thr4250Met)" "" "0001043242" "00014079" "30" "9902" "0" "9902" "0" "c.9902C>T" "r.(?)" "p.(Pro3301Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000156175" "0000358093" "0000156176" "0000358099" "0000236449" "0000480172" "0000236449" "0000480173" "0000246878" "0000499713" "0000246878" "0000499715"