### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MKL1) # 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}}" "MKL1" "megakaryoblastic leukemia (translocation) 1" "22" "q13" "unknown" "NC_000022.10" "UD_132463017029" "" "http://www.LOVD.nl/MRTFA" "" "1" "14334" "57591" "606078" "1" "1" "1" "1" "NOTE: gene name changed from MKL1 to MRTFA\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from MKL1 to MRTFA" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-12-13 14:21:24" "00000" "2026-01-20 18:57:21" ## 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}}" "00013657" "MKL1" "megakaryoblastic leukemia (translocation) 1" "001" "NM_020831.3" "" "NP_065882.1" "" "" "" "-592" "3898" "2796" "41032690" "40806292" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "06547" "IMD66" "?Immunodeficiency 66" "AR" "618847" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MKL1" "06547" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 06547 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 54 "{{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}}" "0000291843" "0" "30" "22" "40816430" "40816430" "subst" "0.00309402" "01943" "MKL1_000005" "g.40816430C>T" "" "" "" "MRTFA(NM_001282662.2):c.1332G>A (p.P444=), MRTFA(NM_001282662.3):c.1332G>A (p.P444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40420426C>T" "" "likely benign" "" "0000291844" "0" "10" "22" "40814749" "40814749" "subst" "0" "01943" "MKL1_000004" "g.40814749C>T" "" "" "" "MRTFA(NM_001282662.2):c.1993G>A (p.A665T), MRTFA(NM_020831.6):c.1993G>A (p.A665T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40418745C>T" "" "benign" "" "0000291845" "0" "30" "22" "40814662" "40814662" "subst" "0.000555766" "01943" "MKL1_000003" "g.40814662C>T" "" "" "" "MRTFA(NM_001282662.2):c.2080G>A (p.A694T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40418658C>T" "" "likely benign" "" "0000291846" "0" "30" "22" "40814588" "40814588" "subst" "0" "01943" "MKL1_000002" "g.40814588G>A" "" "" "" "MRTFA(NM_001282662.2):c.2154C>T (p.P718=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40418584G>A" "" "likely benign" "" "0000308022" "0" "50" "22" "40805297" "40805297" "del" "0" "01943" "SGSM3_000003" "g.40805297del" "" "" "" "SGSM3(NM_015705.6):c.2032delC (p.L678Cfs*52)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40409293del" "" "VUS" "" "0000572101" "0" "30" "22" "40813027" "40813027" "subst" "0" "02326" "MKL1_000007" "g.40813027C>T" "" "" "" "MRTFA(NM_001282662.3):c.2541G>A (p.Q847=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40417023C>T" "" "likely benign" "" "0000572102" "0" "30" "22" "40814373" "40814373" "subst" "0.000242702" "01943" "MKL1_000008" "g.40814373G>A" "" "" "" "MRTFA(NM_001282662.2):c.2364+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40418369G>A" "" "likely benign" "" "0000572103" "0" "30" "22" "40814545" "40814545" "subst" "0.000549133" "01943" "MKL1_000009" "g.40814545C>T" "" "" "" "MRTFA(NM_001282662.2):c.2197G>A (p.E733K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40418541C>T" "" "likely benign" "" "0000572104" "0" "50" "22" "40814697" "40814697" "subst" "0" "01943" "MKL1_000010" "g.40814697G>C" "" "" "" "MRTFA(NM_001282662.2):c.2045C>G (p.S682C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40418693G>C" "" "VUS" "" "0000572105" "0" "50" "22" "40814887" "40814887" "subst" "2.92217E-5" "01943" "MKL1_000011" "g.40814887C>T" "" "" "" "MRTFA(NM_001282662.2):c.1855G>A (p.E619K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40418883C>T" "" "VUS" "" "0000572107" "0" "10" "22" "40815089" "40815089" "subst" "0.0483237" "02327" "MKL1_000013" "g.40815089G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40419085G>C" "" "benign" "" "0000572108" "0" "10" "22" "40815120" "40815120" "subst" "0.00232039" "01943" "MKL1_000014" "g.40815120A>C" "" "" "" "MKL1(NM_020831.3):c.1322T>G (p.(Val441Gly)), MRTFA(NM_001282662.2):c.1622T>G (p.V541G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40419116A>C" "" "benign" "" "0000572109" "0" "30" "22" "40816430" "40816430" "subst" "0.00309402" "02326" "MKL1_000005" "g.40816430C>T" "" "" "" "MRTFA(NM_001282662.2):c.1332G>A (p.P444=), MRTFA(NM_001282662.3):c.1332G>A (p.P444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40420426C>T" "" "likely benign" "" "0000572111" "0" "50" "22" "40816552" "40816552" "subst" "8.1684E-6" "01943" "MKL1_000016" "g.40816552C>T" "" "" "" "MRTFA(NM_001282662.2):c.1210G>A (p.G404R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40420548C>T" "" "VUS" "" "0000618607" "0" "70" "22" "40815091" "40815091" "dup" "0" "02327" "MKL1_000018" "g.40815091dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40419087dup" "" "likely pathogenic" "" "0000618608" "0" "30" "22" "40816430" "40816430" "subst" "0.00309402" "02325" "MKL1_000005" "g.40816430C>T" "" "" "" "MRTFA(NM_001282662.2):c.1332G>A (p.P444=), MRTFA(NM_001282662.3):c.1332G>A (p.P444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40420426C>T" "" "likely benign" "" "0000624310" "0" "30" "22" "40814486" "40814486" "subst" "0.000131612" "02326" "MKL1_000017" "g.40814486C>G" "" "" "" "MRTFA(NM_001282662.3):c.2256G>C (p.G752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40418482C>G" "" "likely benign" "" "0000624311" "0" "30" "22" "40816443" "40816443" "subst" "0.000236206" "02326" "MKL1_000019" "g.40816443G>A" "" "" "" "MRTFA(NM_001282662.3):c.1319C>T (p.P440L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40420439G>A" "" "likely benign" "" "0000658961" "0" "30" "22" "40807907" "40807907" "subst" "5.04745E-5" "01943" "MKL1_000020" "g.40807907A>G" "" "" "" "MRTFA(NM_001282662.2):c.2593T>C (p.F865L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40411903A>G" "" "likely benign" "" "0000658962" "0" "30" "22" "40814585" "40814585" "subst" "0.000203526" "02326" "MKL1_000021" "g.40814585C>T" "" "" "" "MRTFA(NM_001282662.3):c.2157G>A (p.P719=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40418581C>T" "" "likely benign" "" "0000658963" "0" "50" "22" "40814728" "40814728" "subst" "0" "01943" "MKL1_000022" "g.40814728C>T" "" "" "" "MRTFA(NM_001282662.2):c.2014G>A (p.G672S), MRTFA(NM_020831.6):c.2014G>A (p.G672S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40418724C>T" "" "VUS" "" "0000658964" "0" "30" "22" "40814950" "40814950" "subst" "8.35792E-6" "01943" "MKL1_000023" "g.40814950C>G" "" "" "" "MRTFA(NM_001282662.2):c.1792G>C (p.V598L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40418946C>G" "" "likely benign" "" "0000658965" "0" "30" "22" "40859226" "40859226" "subst" "4.06372E-6" "01943" "MKL1_000024" "g.40859226C>G" "" "" "" "MRTFA(NM_001282662.2):c.306G>C (p.P102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40463222C>G" "" "likely benign" "" "0000681898" "0" "50" "22" "40807902" "40807902" "subst" "5.72512E-5" "01943" "MKL1_000025" "g.40807902G>A" "" "" "" "MRTFA(NM_020831.5):c.2588C>T (p.A863V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681899" "0" "30" "22" "40814708" "40814708" "subst" "5.40319E-5" "02326" "MKL1_000026" "g.40814708C>T" "" "" "" "MRTFA(NM_001282662.3):c.2034G>A (p.E678=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681900" "0" "50" "22" "40815138" "40815138" "subst" "5.11666E-6" "01943" "MKL1_000027" "g.40815138G>A" "" "" "" "MRTFA(NM_001282662.2):c.1604C>T (p.T535M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693202" "0" "50" "22" "40814763" "40814763" "subst" "4.27503E-5" "01943" "MKL1_000028" "g.40814763C>T" "" "" "" "MRTFA(NM_001282662.2):c.1979G>A (p.R660Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728177" "0" "30" "22" "40814752" "40814753" "ins" "0" "01943" "MKL1_000029" "g.40814752_40814753insTGCGGG" "" "" "" "MRTFA(NM_001282662.2):c.1994_1995insACCCGC (p.A669_P670dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728178" "0" "50" "22" "40814878" "40814878" "subst" "0.000300614" "02325" "MKL1_000030" "g.40814878C>T" "" "" "" "MRTFA(NM_020831.6):c.1864G>A (p.D622N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809640" "0" "50" "22" "40814839" "40814839" "subst" "0.000248183" "02325" "MKL1_000031" "g.40814839C>T" "" "" "" "MRTFA(NM_020831.6):c.1903G>A (p.E635K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809641" "0" "50" "22" "40815063" "40815063" "subst" "0.000149922" "02325" "MKL1_000032" "g.40815063C>T" "" "" "" "MRTFA(NM_020831.6):c.1679G>A (p.R560H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809642" "0" "50" "22" "40816857" "40816857" "subst" "0" "02325" "MKL1_000033" "g.40816857G>A" "" "" "" "MRTFA(NM_020831.6):c.1175C>T (p.P392L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856178" "0" "30" "22" "40859216" "40859216" "subst" "0" "02326" "MKL1_000037" "g.40859216G>C" "" "" "" "MRTFA(NM_020831.6):c.307+9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866861" "0" "50" "22" "40807495" "40807495" "subst" "4.0857E-6" "01943" "MKL1_000034" "g.40807495C>T" "" "" "" "MRTFA(NM_001318139.1):c.2800G>A (p.V934M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866862" "0" "50" "22" "40813034" "40813034" "subst" "0" "01943" "MKL1_000035" "g.40813034C>T" "" "" "" "MRTFA(NM_001282662.2):c.2534G>A (p.S845N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866863" "0" "30" "22" "40814497" "40814497" "subst" "0.000978704" "01943" "MKL1_000036" "g.40814497G>T" "" "" "" "MRTFA(NM_001282662.2):c.2245C>A (p.L749I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895757" "0" "30" "22" "40814728" "40814728" "subst" "0" "02326" "MKL1_000022" "g.40814728C>T" "" "" "" "MRTFA(NM_001282662.2):c.2014G>A (p.G672S), MRTFA(NM_020831.6):c.2014G>A (p.G672S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895758" "0" "30" "22" "40816514" "40816514" "subst" "0" "02326" "MKL1_000038" "g.40816514G>A" "" "" "" "MRTFA(NM_020831.6):c.1248C>T (p.S416=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895759" "0" "30" "22" "40816548" "40816548" "subst" "0.000236611" "02326" "MKL1_000039" "g.40816548G>T" "" "" "" "MRTFA(NM_020831.6):c.1214C>A (p.T405N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895760" "0" "30" "22" "40816955" "40816955" "subst" "0.000955623" "02326" "MKL1_000040" "g.40816955G>A" "" "" "" "MRTFA(NM_020831.6):c.1077C>T (p.Y359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895761" "0" "30" "22" "40820273" "40820273" "subst" "0.000829762" "02326" "MKL1_000041" "g.40820273C>T" "" "" "" "MRTFA(NM_020831.6):c.714G>A (p.P238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895762" "0" "30" "22" "40825598" "40825598" "subst" "4.46995E-5" "02326" "MKL1_000042" "g.40825598G>C" "" "" "" "MRTFA(NM_020831.6):c.601+12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927181" "0" "30" "22" "40815245" "40815245" "subst" "0" "02326" "MKL1_000043" "g.40815245G>A" "" "" "" "MRTFA(NM_020831.6):c.1497C>T (p.I499=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927182" "0" "30" "22" "40816502" "40816502" "subst" "2.03455E-5" "02326" "MKL1_000044" "g.40816502C>T" "" "" "" "MRTFA(NM_020831.6):c.1260G>A (p.S420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951614" "0" "10" "22" "40814749" "40814749" "subst" "0" "02326" "MKL1_000004" "g.40814749C>T" "" "" "" "MRTFA(NM_001282662.2):c.1993G>A (p.A665T), MRTFA(NM_020831.6):c.1993G>A (p.A665T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951615" "0" "30" "22" "40815074" "40815074" "subst" "0" "02326" "MKL1_000045" "g.40815074G>A" "" "" "" "MRTFA(NM_020831.6):c.1668C>T (p.T556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006107" "0" "30" "22" "40815120" "40815120" "subst" "0.00232039" "01804" "MKL1_000014" "g.40815120A>C" "" "" "" "MKL1(NM_020831.3):c.1322T>G (p.(Val441Gly)), MRTFA(NM_001282662.2):c.1622T>G (p.V541G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043881" "0" "30" "22" "40801855" "40801855" "subst" "0.00227787" "01804" "MKL1_000046" "g.40801855C>T" "" "" "" "SGSM3(NM_015705.6):c.814+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043882" "0" "30" "22" "40804928" "40804928" "subst" "0.000547505" "01804" "MKL1_000047" "g.40804928C>T" "" "" "" "SGSM3(NM_015705.6):c.1903-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043883" "0" "50" "22" "40814748" "40814748" "subst" "0" "01804" "MKL1_000048" "g.40814748G>C" "" "" "" "MRTFA(NM_020831.6):c.1994C>G (p.(Ala665Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057170" "0" "50" "22" "40762518" "40762518" "subst" "1.21851E-5" "01804" "ADSL_000039" "g.40762518T>C" "" "" "" "ADSL(NM_000026.4):c.1447T>C (p.(Cys483Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057171" "0" "50" "22" "40805731" "40805731" "subst" "4.09779E-6" "01804" "MKL1_000049" "g.40805731C>T" "" "" "" "SGSM3(NM_015705.6):c.2218C>T (p.(His740Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067532" "0" "50" "22" "40807925" "40807925" "subst" "0" "02325" "MKL1_000050" "g.40807925A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067533" "0" "50" "22" "40814736" "40814736" "subst" "0" "02325" "MKL1_000051" "g.40814736G>A" "" "" "" "" "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 MKL1 ## Count = 54 "{{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}}" "0000291843" "00013657" "30" "1032" "0" "1032" "0" "c.1032G>A" "r.(?)" "p.(Pro344=)" "" "0000291844" "00013657" "10" "1693" "0" "1693" "0" "c.1693G>A" "r.(?)" "p.(Ala565Thr)" "" "0000291845" "00013657" "30" "1780" "0" "1780" "0" "c.1780G>A" "r.(?)" "p.(Ala594Thr)" "" "0000291846" "00013657" "30" "1854" "0" "1854" "0" "c.1854C>T" "r.(?)" "p.(Pro618=)" "" "0000308022" "00013657" "50" "4894" "0" "4894" "0" "c.*2098del" "r.(?)" "p.(=)" "" "0000572101" "00013657" "30" "2241" "0" "2241" "0" "c.2241G>A" "r.(?)" "p.(Gln747=)" "" "0000572102" "00013657" "30" "2064" "5" "2064" "5" "c.2064+5C>T" "r.spl?" "p.?" "" "0000572103" "00013657" "30" "1897" "0" "1897" "0" "c.1897G>A" "r.(?)" "p.(Glu633Lys)" "" "0000572104" "00013657" "50" "1745" "0" "1745" "0" "c.1745C>G" "r.(?)" "p.(Ser582Cys)" "" "0000572105" "00013657" "50" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Glu519Lys)" "" "0000572107" "00013657" "10" "1353" "0" "1353" "0" "c.1353C>G" "r.(?)" "p.(Pro451=)" "" "0000572108" "00013657" "10" "1322" "0" "1322" "0" "c.1322T>G" "r.(?)" "p.(Val441Gly)" "" "0000572109" "00013657" "30" "1032" "0" "1032" "0" "c.1032G>A" "r.(?)" "p.(Pro344=)" "" "0000572111" "00013657" "50" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Gly304Arg)" "" "0000618607" "00013657" "70" "1356" "0" "1356" "0" "c.1356dup" "r.(?)" "p.(Val453ArgfsTer16)" "" "0000618608" "00013657" "30" "1032" "0" "1032" "0" "c.1032G>A" "r.(?)" "p.(Pro344=)" "" "0000624310" "00013657" "30" "1956" "0" "1956" "0" "c.1956G>C" "r.(?)" "p.(Gly652=)" "" "0000624311" "00013657" "30" "1019" "0" "1019" "0" "c.1019C>T" "r.(?)" "p.(Pro340Leu)" "" "0000658961" "00013657" "30" "2283" "0" "2283" "0" "c.2283T>C" "r.(?)" "p.(Ile761=)" "" "0000658962" "00013657" "30" "1857" "0" "1857" "0" "c.1857G>A" "r.(?)" "p.(Pro619=)" "" "0000658963" "00013657" "50" "1714" "0" "1714" "0" "c.1714G>A" "r.(?)" "p.(Gly572Ser)" "" "0000658964" "00013657" "30" "1492" "0" "1492" "0" "c.1492G>C" "r.(?)" "p.(Val498Leu)" "" "0000658965" "00013657" "30" "6" "0" "6" "0" "c.6G>C" "r.(?)" "p.(Pro2=)" "" "0000681898" "00013657" "50" "2288" "0" "2288" "0" "c.2288C>T" "r.(?)" "p.(Ala763Val)" "" "0000681899" "00013657" "30" "1734" "0" "1734" "0" "c.1734G>A" "r.(?)" "p.(Glu578=)" "" "0000681900" "00013657" "50" "1304" "0" "1304" "0" "c.1304C>T" "r.(?)" "p.(Thr435Met)" "" "0000693202" "00013657" "50" "1679" "0" "1679" "0" "c.1679G>A" "r.(?)" "p.(Arg560Gln)" "" "0000728177" "00013657" "30" "1694" "0" "1695" "0" "c.1694_1695insACCCGC" "r.(?)" "p.(Ala569_Pro570dup)" "" "0000728178" "00013657" "50" "1564" "0" "1564" "0" "c.1564G>A" "r.(?)" "p.(Asp522Asn)" "" "0000809640" "00013657" "50" "1603" "0" "1603" "0" "c.1603G>A" "r.(?)" "p.(Glu535Lys)" "" "0000809641" "00013657" "50" "1379" "0" "1379" "0" "c.1379G>A" "r.(?)" "p.(Arg460His)" "" "0000809642" "00013657" "50" "875" "0" "875" "0" "c.875C>T" "r.(?)" "p.(Pro292Leu)" "" "0000856178" "00013657" "30" "7" "9" "7" "9" "c.7+9C>G" "r.(=)" "p.(=)" "" "0000866861" "00013657" "50" "2695" "0" "2695" "0" "c.2695G>A" "r.(?)" "p.(Val899Met)" "" "0000866862" "00013657" "50" "2234" "0" "2234" "0" "c.2234G>A" "r.(?)" "p.(Ser745Asn)" "" "0000866863" "00013657" "30" "1945" "0" "1945" "0" "c.1945C>A" "r.(?)" "p.(Leu649Ile)" "" "0000895757" "00013657" "30" "1714" "0" "1714" "0" "c.1714G>A" "r.(?)" "p.(Gly572Ser)" "" "0000895758" "00013657" "30" "948" "0" "948" "0" "c.948C>T" "r.(?)" "p.(Ser316=)" "" "0000895759" "00013657" "30" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Thr305Asn)" "" "0000895760" "00013657" "30" "777" "0" "777" "0" "c.777C>T" "r.(?)" "p.(Tyr259=)" "" "0000895761" "00013657" "30" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Pro138=)" "" "0000895762" "00013657" "30" "301" "12" "301" "12" "c.301+12C>G" "r.(=)" "p.(=)" "" "0000927181" "00013657" "30" "1197" "0" "1197" "0" "c.1197C>T" "r.(?)" "p.(Ile399=)" "" "0000927182" "00013657" "30" "960" "0" "960" "0" "c.960G>A" "r.(?)" "p.(Ser320=)" "" "0000951614" "00013657" "10" "1693" "0" "1693" "0" "c.1693G>A" "r.(?)" "p.(Ala565Thr)" "" "0000951615" "00013657" "30" "1368" "0" "1368" "0" "c.1368C>T" "r.(?)" "p.(=)" "" "0001006107" "00013657" "30" "1322" "0" "1322" "0" "c.1322T>G" "r.(?)" "p.(Val441Gly)" "" "0001043881" "00013657" "30" "8335" "0" "8335" "0" "c.*5539G>A" "r.(=)" "p.(=)" "" "0001043882" "00013657" "30" "5262" "0" "5262" "0" "c.*2466G>A" "r.(=)" "p.(=)" "" "0001043883" "00013657" "50" "1694" "0" "1694" "0" "c.1694C>G" "r.(?)" "p.(Ala565Gly)" "" "0001057170" "00013657" "50" "47672" "0" "47672" "0" "c.*44876A>G" "r.(=)" "p.(=)" "" "0001057171" "00013657" "50" "4459" "0" "4459" "0" "c.*1663G>A" "r.(=)" "p.(=)" "" "0001067532" "00013657" "50" "2279" "-14" "2279" "-14" "c.2279-14T>G" "r.(=)" "p.(=)" "" "0001067533" "00013657" "50" "1706" "0" "1706" "0" "c.1706C>T" "r.(?)" "p.(Ala569Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0