### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = C11orf9) # 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}}" "C11orf9" "chromosome 11 open reading frame 9" "11" "q12-q13.1" "unknown" "NC_000011.9" "UD_132465226226" "" "https://www.LOVD.nl/MYRF" "" "1" "1181" "745" "608329" "1" "1" "1" "1" "Gene name changed from C11orf9 to MYRF\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "Gene name changed from C11orf9 to MYRF" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2021-12-13 14:29:43" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00001474" "C11orf9" "transcript variant 1" "002" "NM_013279.2" "" "NP_037411.1" "" "" "" "-35" "5710" "3336" "61522861" "61555989" "00000" "2012-09-13 13:34:57" "" "" "00025725" "C11orf9" "transcript variant 2" "000" "NM_001127392.3" "" "NP_001120864.1" "" "" "" "-109" "5831" "3456" "61520108" "61555990" "03840" "2022-08-10 10:54:16" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00211" "ENC" "encephalopathy (ENC)" "" "" "" "" "" "00006" "2013-09-24 21:07:28" "00006" "2015-12-07 07:11:25" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05477" "MMERV" "encephalitis/encephalopathy, mild, with reversible myelin vacuolization (MMERV)" "AD" "618113" "" "autosomal dominant" "" "00006" "2018-10-21 17:01:22" "00006" "2021-12-10 21:51:32" "05478" "TAPVR1" "pulmonary venous return, total anomalous, type 1 (TAPVR-1, Scimitar syndrome)" "" "106700" "" "" "" "00006" "2018-10-21 17:20:59" "00006" "2021-12-10 21:51:32" "06135" "CUGS" "Cardiac-urogenital syndrome" "AD" "618280" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "C11orf9" "05477" "C11orf9" "05478" "C11orf9" "06135" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00183254" "" "" "" "6" "" "00006" "{PMID:Kurahashi 2018:29265453}" "4-generation family, 6 affected (5F, M)" "F;M" "no" "Japan" "" "0" "" "" "" "29265453-FamA" "00183255" "" "" "" "3" "" "00006" "{PMID:Kurahashi 2018:29265453}" "2-generation family, 3 affected (3F), unaffected carrier mother" "F" "" "Japan" "" "0" "" "" "" "29265453-FamB" "00183256" "" "" "" "1" "" "00006" "{PMID:Pinz 2018:29446546}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "United States" "" "0" "" "" "" "29446546-Pat1" "00183257" "" "" "" "1" "" "00006" "{PMID:Pinz 2018:29446546}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "00y00m10d" "0" "" "" "" "29446546-Pat2" "00183258" "" "" "" "1" "" "00006" "{PMID:Chitayat 2018:30070761}" "2-generation family, affected fetus, unaffected non-carrier parents" "" "" "Canada" "<00y00m00d" "0" "" "" "" "30070761-Pat" "00183259" "" "" "" "4" "" "00006" "Zhou, ASHG2018 P354" "4 unrelated cases" "" "" "United States" "" "0" "" "" "" "ASHG2018-P354" "00415211" "" "" "" "1" "" "00000" "{PMID:Guo 2019:31266062}" "Trio number 8" "F" "" "China" "" "0" "" "" "Chinese" "8" "00415213" "" "" "" "1" "" "00000" "{PMID:Guo 2019:31266062}" "Trio number 10" "F" "" "China" "" "0" "" "" "Chinese" "10" "00415215" "" "" "" "1" "" "00000" "{PMID:Guo 2019:31266062}" "Trio number V1" "F" "" "China" "" "0" "" "" "Chinese" "V1" "00415216" "" "" "" "1" "" "00000" "{PMID:Guo 2019:31266062}" "Sporadic case number 2" "M" "" "China" "" "0" "" "" "Chinese" "Case 2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00183254" "00211" "00183255" "00211" "00183256" "00198" "00183257" "00198" "00183258" "00198" "00183259" "00198" "00415211" "04214" "00415213" "04214" "00415215" "04214" "00415216" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00211, 01157, 04214, 05477, 05478, 06135 ## Count = 11 "{{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}}" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000143984" "00211" "00183254" "00006" "Familial, autosomal dominant" "" "encephalopathy, reversible myelin vacuolization; see paper ..." "" "" "" "" "" "" "" "" "MMERV" "" "" "0000143985" "00211" "00183255" "00006" "Familial, autosomal dominant" "" "see paper; ..., encephalitis/encephalopathy, reversible splenial lesion" "" "" "" "" "" "" "" "" "MMERV" "" "" "0000143986" "00198" "00183256" "00006" "Isolated (sporadic)" "" "see paper; ...," "" "" "" "" "" "" "" "" "TAPVR-1" "Scimitar syndrome" "" "0000143987" "00198" "00183257" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "TAPVR-1" "Scimitar syndrome" "" "0000143988" "00198" "00183258" "00006" "Isolated (sporadic)" "" "cardiac and urogenital anomalies" "" "" "" "" "" "" "" "" "" "" "" "0000143989" "00198" "00183259" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "congenital diaphragmatic hernia (CDH)" "" "0000307009" "04214" "00415211" "00000" "Familial, autosomal recessive" "16y" "best corrected visual acuity right/left eye: 0.02/0.2; intraocular pressure: 27/24; axial length, mm: 18.09/18.07; anterior chamber depth, mm: 2.68/2.37" "7y" "" "amblyopia" "" "" "" "" "" "nanophthalmos" "" "" "0000307011" "04214" "00415213" "00000" "Familial, autosomal recessive" "30y" "best corrected visual acuity right/left eye: 0.1/0.5; intraocular pressure: 13.7/13.2; axial length, mm: 17.58/17.33; anterior chamber depth, mm: 2.76/2.49" "" "" "" "" "" "" "" "" "nanophthalmos" "" "" "0000307013" "04214" "00415215" "00000" "Familial, autosomal recessive" "35y" "best corrected visual acuity right/left eye: no light perception/0.5; intraocular pressure: 38/14; axial length, mm: 17.76/18.02; anterior chamber depth, mm: 0.5 corneal thickness/2.37" "" "" "" "" "" "" "" "" "nanophthalmos" "" "" "0000307014" "04214" "00415216" "00000" "Familial, autosomal recessive" "32y" "best corrected visual acuity right/left eye: 0.63/0.5; intraocular pressure: 12/13; axial length, mm: 17/17; anterior chamber depth, mm: 3 corneal thickness/-" "" "" "" "" "" "" "" "" "nanophthalmos" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000184211" "00183254" "1" "00006" "00006" "2018-10-21 17:07:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000184212" "00183255" "1" "00006" "00006" "2018-10-21 17:15:09" "" "" "SEQ" "DNA" "" "" "0000184213" "00183256" "1" "00006" "00006" "2018-10-21 17:24:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000184214" "00183257" "1" "00006" "00006" "2018-10-21 18:56:32" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000184215" "00183258" "1" "00006" "00006" "2018-10-21 19:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000184216" "00183259" "1" "00006" "00006" "2018-10-21 20:01:50" "" "" "SEQ" "DNA" "" "WES" "0000416493" "00415211" "1" "00000" "03840" "2022-08-10 11:20:22" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing of trios" "0000416495" "00415213" "1" "00000" "03840" "2022-08-10 11:20:22" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing of trios" "0000416497" "00415215" "1" "00000" "03840" "2022-08-10 11:20:22" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing of trios" "0000416498" "00415216" "1" "00000" "03840" "2022-08-10 11:20:22" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing of trios" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000184211" "C11orf9" "0000184212" "C11orf9" "0000184213" "C11orf9" "0000184214" "C11orf9" "0000184215" "C11orf9" "0000184216" "C11orf9" "0000416493" "C11orf9" "0000416495" "C11orf9" "0000416497" "C11orf9" "0000416498" "C11orf9" ## 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 = 68 "{{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}}" "0000012954" "3" "50" "11" "61541888" "61541888" "subst" "0" "00037" "C11orf9_000001" "g.61541888A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.61774416A>G" "" "VUS" "" "0000322258" "0" "50" "11" "61537958" "61537958" "subst" "0.00177055" "01804" "C11orf9_000007" "g.61537958C>T" "" "" "" "MYRF(NM_001127392.1):c.701C>T (p.(Ser234Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61770486C>T" "" "VUS" "" "0000322259" "0" "50" "11" "61548193" "61548193" "subst" "0.00188402" "01804" "C11orf9_000009" "g.61548193C>T" "" "" "" "MYRF(NM_001127392.1):c.2415C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61780721C>T" "" "VUS" "" "0000408215" "1" "90" "11" "61541531" "61541531" "subst" "0" "00006" "C11orf9_000002" "g.61541531A>G" "" "{PMID:Kurahashi 2018:29265453}" "" "NM_001127392.1:c.1208A>G (Gln403Arg)" "" "Germline" "yes" "" "0" "" "" "g.61774059A>G" "" "pathogenic (dominant)" "" "0000408216" "21" "90" "11" "61541531" "61541531" "subst" "0" "00006" "C11orf9_000002" "g.61541531A>G" "" "{PMID:Kurahashi 2018:29265453}" "" "NM_001127392.1:c.1208A>G (Gln403Arg)" "" "Germline" "yes" "" "0" "" "" "g.61774059A>G" "" "pathogenic (dominant)" "" "0000408217" "0" "90" "11" "61547403" "61547403" "subst" "0" "00006" "C11orf9_000003" "g.61547403G>A" "" "{PMID:Pinz 2018:29446546}" "" "NM_001127392.2:c.2336+1G>A" "" "De novo" "" "" "0" "" "" "g.61779931G>A" "" "pathogenic (dominant)" "" "0000408221" "0" "90" "11" "61548463" "61548463" "subst" "0" "00006" "C11orf9_000004" "g.61548463C>T" "" "{PMID:Pinz 2018:29446546}" "" "c.2518C>T (R840X)" "" "De novo" "" "" "0" "" "" "g.61780991C>T" "" "pathogenic (dominant)" "" "0000408223" "0" "90" "11" "61541577" "61541578" "dup" "0" "00006" "C11orf9_000005" "g.61541577_61541578dup" "" "{PMID:Chitayat 2018:30070761}" "" "NM_001127392.2:c.1254_1255dupGA" "" "De novo" "" "" "0" "" "" "g.61774105_61774106dup" "" "pathogenic (dominant)" "" "0000408224" "0" "90" "11" "0" "0" "" "0" "00006" "C11orf9_000000" "g.?" "" "Zhou, ASHG2018, P354" "" "" "" "De novo" "" "" "1" "" "" "" "" "pathogenic (dominant)" "" "0000544692" "0" "50" "11" "61537835" "61537835" "subst" "0" "01943" "C11orf9_000006" "g.61537835C>A" "" "" "" "MYRF(NM_001127392.2):c.578C>A (p.P193Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61770363C>A" "" "VUS" "" "0000544693" "0" "30" "11" "61541437" "61541437" "subst" "0" "01804" "C11orf9_000008" "g.61541437A>C" "" "" "" "MYRF(NM_001127392.1):c.1116-2A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61773965A>C" "" "likely benign" "" "0000613468" "0" "70" "11" "61520264" "61520264" "subst" "0" "02327" "C11orf9_000010" "g.61520264T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61752792T>C" "" "likely pathogenic" "" "0000622651" "0" "30" "11" "61541463" "61541463" "subst" "1.22203E-5" "01943" "C11orf9_000011" "g.61541463T>C" "" "" "" "MYRF(NM_001127392.2):c.1140T>C (p.D380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61773991T>C" "" "likely benign" "" "0000622652" "0" "30" "11" "61544804" "61544804" "subst" "0.000990147" "01943" "C11orf9_000012" "g.61544804C>G" "" "" "" "MYRF(NM_001127392.2):c.1659C>G (p.T553=), MYRF(NM_001127392.3):c.1659C>G (p.T553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61777332C>G" "" "likely benign" "" "0000656822" "0" "30" "11" "61537875" "61537875" "subst" "0" "01943" "C11orf9_000013" "g.61537875C>T" "" "" "" "MYRF(NM_001127392.2):c.618C>T (p.Y206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61770403C>T" "" "likely benign" "" "0000679233" "0" "70" "11" "61544781" "61544781" "subst" "0" "02327" "C11orf9_000014" "g.61544781C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000679234" "0" "70" "11" "61548522" "61548522" "subst" "0" "02327" "C11orf9_000015" "g.61548522G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000691101" "0" "30" "11" "61539202" "61539202" "subst" "0.000175472" "02325" "C11orf9_000016" "g.61539202C>T" "" "" "" "MYRF(NM_001127392.3):c.971C>T (p.P324L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691102" "0" "30" "11" "61541429" "61541429" "subst" "0" "01943" "C11orf9_000017" "g.61541429G>C" "" "" "" "MYRF(NM_001127392.2):c.1116-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691103" "0" "50" "11" "61541493" "61541493" "subst" "2.44212E-5" "02325" "C11orf9_000018" "g.61541493C>T" "" "" "" "MYRF(NM_001127392.3):c.1170C>T (p.G390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723518" "0" "30" "11" "61545904" "61545904" "subst" "4.06085E-5" "02325" "C11orf9_000019" "g.61545904C>T" "" "" "" "MYRF(NM_001127392.3):c.1956C>T (p.T652=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723519" "0" "70" "11" "61548803" "61548803" "del" "0" "02327" "C11orf9_000020" "g.61548803del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000805215" "0" "30" "11" "61533173" "61533173" "subst" "0" "01943" "C11orf9_000021" "g.61533173T>C" "" "" "" "MYRF(NM_001127392.2):c.123T>C (p.D41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805216" "0" "30" "11" "61541547" "61541547" "subst" "1.62588E-5" "02325" "C11orf9_000022" "g.61541547C>T" "" "" "" "MYRF(NM_001127392.3):c.1224C>T (p.I408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805217" "0" "30" "11" "61544319" "61544319" "subst" "0.00106621" "01943" "C11orf9_000023" "g.61544319C>T" "" "" "" "MYRF(NM_001127392.2):c.1560C>T (p.A520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805218" "0" "50" "11" "61546756" "61546756" "subst" "3.4675E-5" "01943" "C11orf9_000024" "g.61546756G>A" "" "" "" "MYRF(NM_001127392.2):c.2035G>A (p.V679I), MYRF(NM_001127392.3):c.2035G>A (p.V679I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805219" "0" "30" "11" "61546875" "61546875" "subst" "7.42872E-5" "01943" "C11orf9_000025" "g.61546875C>T" "" "" "" "MYRF(NM_001127392.2):c.2154C>T (p.T718=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853054" "0" "70" "11" "61544349" "61544349" "subst" "0" "02327" "C11orf9_000028" "g.61544349G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000853055" "0" "70" "11" "61548745" "61548745" "del" "0" "02327" "C11orf9_000030" "g.61548745del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000862603" "0" "90" "11" "61545851" "61545851" "subst" "0" "01943" "C11orf9_000029" "g.61545851G>C" "" "" "" "MYRF(NM_001127392.2):c.1904-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000862604" "0" "50" "11" "61549081" "61549081" "subst" "0" "02325" "C11orf9_000031" "g.61549081T>G" "" "" "" "MYRF(NM_001127392.3):c.2801T>G (p.I934S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000874606" "0" "90" "11" "61539020" "61539020" "del" "0" "00000" "C11orf9_000032" "g.61539020del" "GnomAD: 0" "{PMID:Guo 2019:31266062}" "" "MYRF c.789delC, p.S264fs (het)" "heterozygous" "De novo" "?" "" "0" "" "" "g.61771548del" "" "pathogenic" "" "0000874608" "0" "90" "11" "61539020" "61539020" "dup" "0" "00000" "C11orf9_000033" "g.61539020dup" "GnomAD: 0" "{PMID:Guo 2019:31266062}" "" "MYRF c.789dupC, p.S264fs (het)" "heterozygous" "De novo" "?" "" "0" "" "" "g.61771548dup" "" "pathogenic" "" "0000874610" "0" "70" "11" "61543838" "61543838" "subst" "0" "00000" "C11orf9_000034" "g.61543838G>C" "GnomAD: 0" "{PMID:Guo 2019:31266062}" "" "MYRF c.1433G>C, p.R478P (het)" "heterozygous" "De novo" "?" "" "0" "" "" "g.61776366G>C" "" "likely pathogenic" "" "0000874611" "0" "70" "11" "61549236" "61549236" "subst" "0" "00000" "C11orf9_000035" "g.61549236C>T" "GnomAD: 0" "{PMID:Guo 2019:31266062}" "" "MYRF c.2956C>T, p.R986X (het)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.61781764C>T" "" "likely pathogenic" "" "0000889999" "0" "50" "11" "61533650" "61533650" "subst" "0" "02325" "C11orf9_000036" "g.61533650G>A" "" "" "" "MYRF(NM_001127392.3):c.355G>A (p.G119R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890000" "0" "70" "11" "61539102" "61539102" "subst" "0" "02327" "C11orf9_000037" "g.61539102C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000890001" "0" "70" "11" "61539145" "61539145" "del" "0" "02329" "C11orf9_000038" "g.61539145del" "" "" "" "MYRF(NM_001127392.3):c.914delC (p.P305Rfs*100)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000890002" "0" "70" "11" "61551849" "61551849" "del" "0" "02325" "C11orf9_000039" "g.61551849del" "" "" "" "MYRF(NM_001127392.3):c.3292delG (p.D1098Tfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000925447" "0" "30" "11" "61539076" "61539076" "subst" "5.68662E-5" "02327" "C11orf9_000040" "g.61539076T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925448" "0" "50" "11" "61539103" "61539103" "subst" "3.65548E-5" "02325" "C11orf9_000041" "g.61539103G>A" "" "" "" "MYRF(NM_001127392.3):c.872G>A (p.R291Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929922" "0" "30" "11" "61541436" "61541436" "dup" "0" "02326" "C11orf9_000042" "g.61541436dup" "" "" "" "MYRF(NM_001127392.3):c.1116-3dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929923" "0" "50" "11" "61541458" "61541458" "subst" "0" "02325" "C11orf9_000043" "g.61541458G>A" "" "" "" "MYRF(NM_001127392.3):c.1135G>A (p.V379M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929924" "0" "30" "11" "61541571" "61541571" "subst" "0.000122027" "02325" "C11orf9_000044" "g.61541571C>T" "" "" "" "MYRF(NM_001127392.3):c.1248C>T (p.Y416=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929925" "0" "10" "11" "61541592" "61541592" "subst" "0.00528117" "02326" "C11orf9_000045" "g.61541592C>T" "" "" "" "MYRF(NM_001127392.3):c.1269C>T (p.L423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929926" "0" "30" "11" "61544804" "61544804" "subst" "0.000990147" "02326" "C11orf9_000012" "g.61544804C>G" "" "" "" "MYRF(NM_001127392.2):c.1659C>G (p.T553=), MYRF(NM_001127392.3):c.1659C>G (p.T553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929927" "0" "50" "11" "61549234" "61549234" "subst" "0" "02325" "C11orf9_000046" "g.61549234G>A" "" "" "" "MYRF(NM_001127392.3):c.2954G>A (p.R985H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949721" "0" "50" "11" "61546756" "61546756" "subst" "3.4675E-5" "02325" "C11orf9_000024" "g.61546756G>A" "" "" "" "MYRF(NM_001127392.2):c.2035G>A (p.V679I), MYRF(NM_001127392.3):c.2035G>A (p.V679I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979683" "0" "50" "11" "61533546" "61533546" "subst" "3.1444E-5" "01804" "C11orf9_000047" "g.61533546C>T" "" "" "" "MYRF(NM_001127392.3):c.251C>T (p.(Pro84Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979684" "0" "30" "11" "61546719" "61546732" "del" "0" "01804" "C11orf9_000048" "g.61546719_61546732del" "" "" "" "MYRF(NM_001127392.3):c.2014-16_2014-3del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979685" "0" "30" "11" "61546726" "61546732" "del" "0" "01804" "C11orf9_000049" "g.61546726_61546732del" "" "" "" "MYRF(NM_001127392.3):c.2014-9_2014-3del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979686" "0" "30" "11" "61546726" "61546732" "dup" "0" "01804" "C11orf9_000050" "g.61546726_61546732dup" "" "" "" "MYRF(NM_001127392.3):c.2014-9_2014-3dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979687" "0" "30" "11" "61547323" "61547323" "subst" "6.51232E-5" "01804" "C11orf9_000051" "g.61547323G>A" "" "" "" "MYRF(NM_001127392.3):c.2257G>A (p.(Val753Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979688" "0" "30" "11" "61548273" "61548273" "subst" "0" "01804" "C11orf9_000052" "g.61548273T>C" "" "" "" "MYRF(NM_001127392.3):c.2486+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999188" "0" "30" "11" "61533551" "61533551" "subst" "2.2365E-5" "01804" "C11orf9_000053" "g.61533551C>T" "" "" "" "MYRF(NM_001127392.1):c.256C>T (p.(Arg86Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999189" "0" "30" "11" "61537742" "61537742" "subst" "0" "01804" "C11orf9_000054" "g.61537742C>A" "" "" "" "MYRF(NM_001127392.1):c.485C>A (p.(Thr162Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999190" "0" "30" "11" "61538980" "61538980" "subst" "2.86041E-5" "01804" "C11orf9_000055" "g.61538980C>T" "" "" "" "MYRF(NM_001127392.1):c.749C>T (p.(Thr250Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999191" "0" "30" "11" "61541437" "61541439" "del" "0" "01804" "C11orf9_000056" "g.61541437_61541439del" "" "" "" "MYRF(NM_001127392.1):c.1116-2_1116delAGG (p.(Met374fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999192" "0" "30" "11" "61544760" "61544760" "subst" "0" "01804" "C11orf9_000057" "g.61544760A>G" "" "" "" "MYRF(NM_001127392.1):c.1615A>G (p.(Ser539Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014847" "0" "30" "11" "61546996" "61546996" "subst" "0.000218636" "02325" "C11orf9_000058" "g.61546996C>T" "" "" "" "MYRF(NM_001127392.3):c.2201C>T (p.A734V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038541" "0" "50" "11" "61533505" "61533505" "subst" "0" "01804" "C11orf9_000027" "g.61533505C>G" "" "" "" "MYRF(NM_001127392.3):c.210C>G (p.(Ser70Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038542" "0" "30" "11" "61541431" "61541431" "subst" "1.69328E-5" "01804" "C11orf9_000059" "g.61541431C>T" "" "" "" "MYRF(NM_001127392.3):c.1116-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038543" "0" "90" "11" "61548265" "61548265" "subst" "0" "02327" "C11orf9_000060" "g.61548265G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038544" "0" "50" "11" "61550972" "61550972" "subst" "0" "01804" "C11orf9_000061" "g.61550972T>A" "" "" "" "MYRF(NM_001127392.3):c.3019T>A (p.(Ser1007Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038545" "0" "30" "11" "61551764" "61551764" "subst" "0.00457215" "01804" "C11orf9_000062" "g.61551764C>T" "" "" "" "MYRF(NM_001127392.3):c.3207C>T (p.(Pro1069=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053903" "0" "50" "11" "61541572" "61541572" "subst" "0" "01804" "C11orf9_000063" "g.61541572G>A" "" "" "" "MYRF(NM_001127392.3):c.1249G>A (p.(Val417Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053904" "0" "30" "11" "61547022" "61547022" "subst" "0.000100165" "01804" "C11orf9_000064" "g.61547022C>T" "" "" "" "MYRF(NM_001127392.3):c.2227C>T (p.(Pro743Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053905" "0" "50" "11" "61551359" "61551359" "subst" "8.78999E-5" "01804" "C11orf9_000065" "g.61551359T>G" "" "" "" "MYRF(NM_001127392.3):c.3156T>G (p.(Ser1052Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes C11orf9 ## Count = 103 "{{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}}" "0000012954" "00001474" "50" "1284" "254" "1284" "254" "c.1284+254A>G" "r.(=)" "p.(=)" "" "0000322258" "00001474" "50" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Ser225Phe)" "" "0000322259" "00001474" "50" "2379" "-236" "2379" "-236" "c.2379-236C>T" "r.(=)" "p.(=)" "" "0000408215" "00001474" "90" "1181" "0" "1181" "0" "c.1181A>G" "r.(?)" "p.(Gln394Arg)" "" "0000408216" "00001474" "90" "1181" "0" "1181" "0" "c.1181A>G" "r.(?)" "p.(Gln394Arg)" "" "0000408217" "00001474" "90" "2309" "1" "2309" "1" "c.2309+1G>A" "r.spl" "p.?" "" "0000408221" "00001474" "90" "2413" "0" "2413" "0" "c.2413C>T" "r.(?)" "p.(Arg805*)" "" "0000408223" "00001474" "90" "1227" "0" "1228" "0" "c.1227_1228dup" "r.(?)" "p.(Thr410Argfs*14)" "" "0000408224" "00001474" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000544692" "00001474" "50" "551" "0" "551" "0" "c.551C>A" "r.(?)" "p.(Pro184Gln)" "" "0000544693" "00001474" "30" "1089" "-2" "1089" "-2" "c.1089-2A>C" "r.spl?" "p.?" "" "0000613468" "00001474" "70" "-2632" "0" "-2632" "0" "c.-2632T>C" "r.(?)" "p.(=)" "" "0000622651" "00001474" "30" "1113" "0" "1113" "0" "c.1113T>C" "r.(?)" "p.(Asp371=)" "" "0000622652" "00001474" "30" "1632" "0" "1632" "0" "c.1632C>G" "r.(?)" "p.(Thr544=)" "" "0000656822" "00001474" "30" "591" "0" "591" "0" "c.591C>T" "r.(?)" "p.(Tyr197=)" "" "0000679233" "00001474" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Gln537Ter)" "" "0000679234" "00001474" "70" "2467" "5" "2467" "5" "c.2467+5G>A" "r.spl?" "p.?" "" "0000691101" "00001474" "30" "944" "0" "944" "0" "c.944C>T" "r.(?)" "p.(Pro315Leu)" "" "0000691102" "00001474" "30" "1089" "-10" "1089" "-10" "c.1089-10G>C" "r.(=)" "p.(=)" "" "0000691103" "00001474" "50" "1143" "0" "1143" "0" "c.1143C>T" "r.(?)" "p.(Gly381=)" "" "0000723518" "00001474" "30" "1929" "0" "1929" "0" "c.1929C>T" "r.(?)" "p.(Thr643=)" "" "0000723519" "00001474" "70" "2659" "2" "2659" "2" "c.2659+2del" "r.spl?" "p.?" "" "0000805215" "00001474" "30" "96" "0" "96" "0" "c.96T>C" "r.(?)" "p.(Asp32=)" "" "0000805216" "00001474" "30" "1197" "0" "1197" "0" "c.1197C>T" "r.(?)" "p.(Ile399=)" "" "0000805217" "00001474" "30" "1533" "0" "1533" "0" "c.1533C>T" "r.(?)" "p.(Ala511=)" "" "0000805218" "00001474" "50" "2008" "0" "2008" "0" "c.2008G>A" "r.(?)" "p.(Val670Ile)" "" "0000805219" "00001474" "30" "2127" "0" "2127" "0" "c.2127C>T" "r.(?)" "p.(Thr709=)" "" "0000853054" "00025725" "70" "1590" "0" "1590" "0" "c.1590G>T" "r.(?)" "p.(Arg530=)" "" "0000853054" "00001474" "70" "1563" "0" "1563" "0" "c.1563G>T" "r.(?)" "p.(Arg521=)" "" "0000853055" "00025725" "70" "2708" "0" "2708" "0" "c.2708del" "r.(?)" "p.(Ser903Thrfs*114)" "" "0000853055" "00001474" "70" "2603" "0" "2603" "0" "c.2603del" "r.(?)" "p.(Ser868Thrfs*109)" "" "0000862603" "00025725" "90" "1904" "-1" "1904" "-1" "c.1904-1G>C" "r.spl?" "p.?" "" "0000862603" "00001474" "90" "1877" "-1" "1877" "-1" "c.1877-1G>C" "r.spl?" "p.?" "" "0000862604" "00025725" "50" "2801" "0" "2801" "0" "c.2801T>G" "r.(?)" "p.(Ile934Ser)" "" "0000862604" "00001474" "50" "2696" "0" "2696" "0" "c.2696T>G" "r.(?)" "p.(Ile899Ser)" "" "0000874606" "00001474" "90" "789" "0" "789" "0" "c.789delC" "r.(?)" "p.(Ser264Alafs*8)" "" "0000874608" "00001474" "90" "789" "0" "789" "0" "c.789dupC" "r.(?)" "p.(Ser264Glnfs*74)" "" "0000874610" "00001474" "70" "1433" "0" "1433" "0" "c.1433G>C" "r.(?)" "p.(Arg478Pro)" "" "0000874611" "00001474" "70" "2956" "0" "2956" "0" "c.2956C>T" "r.(?)" "p.(Arg986*)" "" "0000889999" "00025725" "50" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Gly119Arg)" "" "0000889999" "00001474" "50" "328" "0" "328" "0" "c.328G>A" "r.(?)" "p.(Gly110Arg)" "" "0000890000" "00025725" "70" "871" "0" "871" "0" "c.871C>T" "r.(?)" "p.(Arg291*)" "" "0000890000" "00001474" "70" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282*)" "" "0000890001" "00025725" "70" "914" "0" "914" "0" "c.914del" "r.(?)" "p.(Pro305Argfs*100)" "" "0000890001" "00001474" "70" "887" "0" "887" "0" "c.887del" "r.(?)" "p.(Pro296Argfs*100)" "" "0000890002" "00025725" "70" "3292" "0" "3292" "0" "c.3292del" "r.(?)" "p.(Asp1098Thrfs*11)" "" "0000890002" "00001474" "70" "3172" "0" "3172" "0" "c.3172del" "r.(?)" "p.(Asp1058Thrfs*11)" "" "0000925447" "00025725" "30" "845" "0" "845" "0" "c.845T>C" "r.(?)" "p.(Val282Ala)" "" "0000925447" "00001474" "30" "818" "0" "818" "0" "c.818T>C" "r.(?)" "p.(Val273Ala)" "" "0000925448" "00025725" "50" "872" "0" "872" "0" "c.872G>A" "r.(?)" "p.(Arg291Gln)" "" "0000925448" "00001474" "50" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Arg282Gln)" "" "0000929922" "00025725" "30" "1116" "-3" "1116" "-3" "c.1116-3dup" "r.spl?" "p.?" "" "0000929922" "00001474" "30" "1089" "-3" "1089" "-3" "c.1089-3dup" "r.spl?" "p.?" "" "0000929923" "00025725" "50" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Val379Met)" "" "0000929923" "00001474" "50" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Val370Met)" "" "0000929924" "00025725" "30" "1248" "0" "1248" "0" "c.1248C>T" "r.(?)" "p.(Tyr416=)" "" "0000929924" "00001474" "30" "1221" "0" "1221" "0" "c.1221C>T" "r.(?)" "p.(=)" "" "0000929925" "00025725" "10" "1269" "0" "1269" "0" "c.1269C>T" "r.(?)" "p.(Leu423=)" "" "0000929925" "00001474" "10" "1242" "0" "1242" "0" "c.1242C>T" "r.(?)" "p.(=)" "" "0000929926" "00001474" "30" "1632" "0" "1632" "0" "c.1632C>G" "r.(?)" "p.(Thr544=)" "" "0000929927" "00025725" "50" "2954" "0" "2954" "0" "c.2954G>A" "r.(?)" "p.(Arg985His)" "" "0000929927" "00001474" "50" "2849" "0" "2849" "0" "c.2849G>A" "r.(?)" "p.(Arg950His)" "" "0000949721" "00001474" "50" "2008" "0" "2008" "0" "c.2008G>A" "r.(?)" "p.(Val670Ile)" "" "0000979683" "00025725" "50" "251" "0" "251" "0" "c.251C>T" "r.(?)" "p.(Pro84Leu)" "" "0000979683" "00001474" "50" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Pro75Leu)" "" "0000979684" "00025725" "30" "2014" "-16" "2014" "-3" "c.2014-16_2014-3del" "r.spl?" "p.?" "" "0000979684" "00001474" "30" "1987" "-16" "1987" "-3" "c.1987-16_1987-3del" "r.spl?" "p.?" "" "0000979685" "00025725" "30" "2014" "-9" "2014" "-3" "c.2014-9_2014-3del" "r.spl?" "p.?" "" "0000979685" "00001474" "30" "1987" "-9" "1987" "-3" "c.1987-9_1987-3del" "r.spl?" "p.?" "" "0000979686" "00025725" "30" "2014" "-9" "2014" "-3" "c.2014-9_2014-3dup" "r.spl?" "p.?" "" "0000979686" "00001474" "30" "1987" "-9" "1987" "-3" "c.1987-9_1987-3dup" "r.spl?" "p.?" "" "0000979687" "00025725" "30" "2257" "0" "2257" "0" "c.2257G>A" "r.(?)" "p.(Val753Met)" "" "0000979687" "00001474" "30" "2230" "0" "2230" "0" "c.2230G>A" "r.(?)" "p.(Val744Met)" "" "0000979688" "00025725" "30" "2486" "9" "2486" "9" "c.2486+9T>C" "r.(=)" "p.(=)" "" "0000979688" "00001474" "30" "2379" "-156" "2379" "-156" "c.2379-156T>C" "r.(=)" "p.(=)" "" "0000999188" "00025725" "30" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Cys)" "" "0000999188" "00001474" "30" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Arg77Cys)" "" "0000999189" "00025725" "30" "485" "0" "485" "0" "c.485C>A" "r.(?)" "p.(Thr162Asn)" "" "0000999189" "00001474" "30" "458" "0" "458" "0" "c.458C>A" "r.(?)" "p.(Thr153Asn)" "" "0000999190" "00025725" "30" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Thr250Ile)" "" "0000999190" "00001474" "30" "722" "0" "722" "0" "c.722C>T" "r.(?)" "p.(Thr241Ile)" "" "0000999191" "00025725" "30" "1116" "-2" "1116" "0" "c.1116-2_1116del" "r.spl?" "p.?" "" "0000999191" "00001474" "30" "1089" "-2" "1089" "0" "c.1089-2_1089del" "r.spl?" "p.?" "" "0000999192" "00025725" "30" "1615" "0" "1615" "0" "c.1615A>G" "r.(?)" "p.(Ser539Gly)" "" "0000999192" "00001474" "30" "1588" "0" "1588" "0" "c.1588A>G" "r.(?)" "p.(Ser530Gly)" "" "0001014847" "00025725" "30" "2201" "0" "2201" "0" "c.2201C>T" "r.(?)" "p.(Ala734Val)" "" "0001014847" "00001474" "30" "2174" "0" "2174" "0" "c.2174C>T" "r.(?)" "p.(Ala725Val)" "" "0001038541" "00025725" "50" "210" "0" "210" "0" "c.210C>G" "r.(?)" "p.(Ser70Arg)" "" "0001038541" "00001474" "50" "183" "0" "183" "0" "c.183C>G" "r.(?)" "p.(Ser61Arg)" "" "0001038542" "00025725" "30" "1116" "-8" "1116" "-8" "c.1116-8C>T" "r.(=)" "p.(=)" "" "0001038542" "00001474" "30" "1089" "-8" "1089" "-8" "c.1089-8C>T" "r.(=)" "p.(=)" "" "0001038543" "00025725" "90" "2486" "1" "2486" "1" "c.2486+1G>A" "r.spl?" "p.?" "" "0001038543" "00001474" "90" "2379" "-164" "2379" "-164" "c.2379-164G>A" "r.(=)" "p.(=)" "" "0001038544" "00025725" "50" "3019" "0" "3019" "0" "c.3019T>A" "r.(?)" "p.(Ser1007Thr)" "" "0001038544" "00001474" "50" "2912" "-13" "2912" "-13" "c.2912-13T>A" "r.(=)" "p.(=)" "" "0001038545" "00025725" "30" "3207" "0" "3207" "0" "c.3207C>T" "r.(?)" "p.(Pro1069=)" "" "0001038545" "00001474" "30" "3087" "0" "3087" "0" "c.3087C>T" "r.(?)" "p.(=)" "" "0001053903" "00025725" "50" "1249" "0" "1249" "0" "c.1249G>A" "r.(?)" "p.(Val417Ile)" "" "0001053903" "00001474" "50" "1222" "0" "1222" "0" "c.1222G>A" "r.(?)" "p.(Val408Ile)" "" "0001053904" "00025725" "30" "2227" "0" "2227" "0" "c.2227C>T" "r.(?)" "p.(Pro743Ser)" "" "0001053904" "00001474" "30" "2200" "0" "2200" "0" "c.2200C>T" "r.(?)" "p.(Pro734Ser)" "" "0001053905" "00025725" "50" "3156" "0" "3156" "0" "c.3156T>G" "r.(?)" "p.(Ser1052Arg)" "" "0001053905" "00001474" "50" "3036" "0" "3036" "0" "c.3036T>G" "r.(?)" "p.(Ser1012Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000000210" "0000012954" "0000184211" "0000408215" "0000184212" "0000408216" "0000184213" "0000408217" "0000184214" "0000408221" "0000184215" "0000408223" "0000184216" "0000408224" "0000416493" "0000874606" "0000416495" "0000874608" "0000416497" "0000874610" "0000416498" "0000874611"