### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYH3) # 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}}" "MYH3" "myosin heavy chain 3" "17" "p13.1" "unknown" "NG_011537.1" "UD_144419056677" "" "" "" "1" "7573" "4621" "160720" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2020-12-16 15:55:18" "" "" "00005" "2021-08-30 10:58:48" ## 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}}" "00000069" "MYH3" "myosin heavy chain 3" "002" "NM_002470.3" "" "NP_002461.2" "" "" "" "-88" "5950" "5823" "10657309" "10628526" "00001" "2020-12-16 15:56:08" "" "" ## 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}}" "00044" "ASD" "Atrial septal defect" "" "" "" "" "" "00001" "2020-12-16 15:54:56" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MYH3" "00044" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000265" "" "" "" "1" "" "00002" "{PMID:Sathiya Maran et al. (2020):32315303}" "" "" "Malaysia" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00000265" "00044" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00044 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000280" "00000265" "1" "00002" "00002" "2020-12-16 16:04:36" "" "" "SEQ-NG-I;PCRlr" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000000280" "MYH3" ## 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 = 21 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000001311" "0" "00" "17" "10655059" "10655059" "subst" "0" "00002" "MYH3_000001" "g.10655059A>G" "2/51" "{PMID:Sathiya Maran et al. (2020):32315303}, {dbSNP:rs17817203}, {ClinVar:129667}" "" "" "rs17817203" "0000001312" "3" "10" "17" "10639448" "10639448" "subst" "0" "00002" "MYH3_000002" "g.10639448A>G" "7/51" "{PMID:Sathiya Maran et al. (2020):32315303}, {dbSNP:rs2285474}, {ClinVar:129653}" "" "" "rs2285474" "0000001313" "0" "10" "17" "10639448" "10639448" "subst" "0" "00002" "MYH3_000002" "g.10639448A>G" "17/51" "{PMID:Sathiya Maran et al. (2020):32315303}, {dbSNP:rs2285474}, {ClinVar:129653}" "" "" "rs2285474" "0000001314" "3" "90" "17" "10632918" "10632918" "subst" "0" "00002" "MYH3_000003" "g.10632918T>C" "8/51" "{PMID:Sathiya Maran et al. (2020):32315303}, {dbSNP:rs1981514}" "" "" "rs1981514" "0000001315" "0" "90" "17" "10632918" "10632918" "subst" "0" "00002" "MYH3_000003" "g.10632918T>C" "20/51" "{PMID:Sathiya Maran et al. (2020):32315303}, {dbSNP:rs1981514}" "" "" "rs1981514" "0000001316" "0" "10" "17" "10631643" "10631643" "subst" "0" "00002" "MYH3_000004" "g.10631643C>T" "2/51" "{PMID:Sathiya Maran et al. (2020):32315303}, {dbSNP:rs34393601}, {ClinVar:129664}" "" "" "rs34393601" "0000001317" "3" "10" "17" "10632032" "10632032" "subst" "0" "00002" "MYH3_000005" "g.10632032C>A" "14/51" "{PMID:Sathiya Maran et al. (2020):32315303}, {dbSNP:rs2239936}, {ClinVar:258691}" "" "" "rs2239936" "0000001318" "0" "10" "17" "10632032" "10632032" "subst" "0" "00002" "MYH3_000005" "g.10632032C>A" "21/51" "{PMID:Sathiya Maran et al. (2020):32315303}, {dbSNP:rs2239936}, {ClinVar:258691}" "" "" "rs2239936" "0000001319" "3" "10" "17" "10639569" "10639569" "subst" "0" "00002" "MYH3_000006" "g.10639569T>C" "4/51" "{PMID:Sathiya Maran et al. (2020):32315303}, {dbSNP:rs2285472}, {ClinVar:129652}" "" "" "rs2285472" "0000001320" "0" "10" "17" "10639569" "10639569" "subst" "0" "00002" "MYH3_000006" "g.10639569T>C" "19/51" "{PMID:Sathiya Maran et al. (2020):32315303}, {dbSNP:rs2285472}, {ClinVar:129652}" "" "" "rs2285472" "0000001321" "3" "10" "17" "10639486" "10639486" "subst" "0" "00002" "MYH3_000007" "g.10639486T>C" "3/51" "{PMID:Sathiya Maran et al. (2020):32315303}, {dbSNP:rs2285473}, {ClinVar:258676}" "" "" "rs2285473" "0000001322" "0" "10" "17" "10639486" "10639486" "subst" "0" "00002" "MYH3_000007" "g.10639486T>C" "19/51" "{PMID:Sathiya Maran et al. (2020):32315303}, {dbSNP:rs2285473}, {ClinVar:258676}" "" "" "rs2285473" "0000001323" "3" "10" "17" "10638198" "10638198" "subst" "0" "00002" "MYH3_000008" "g.10638198C>T" "4/51" "{PMID:Sathiya Maran et al. (2020):32315303}, {dbSNP:rs2285477}, {ClinVar:129658}" "" "" "rs2285477" "0000001324" "0" "10" "17" "10638198" "10638198" "subst" "0" "00002" "MYH3_000008" "g.10638198C>T" "20/51" "{PMID:Sathiya Maran et al. (2020):32315303}, {dbSNP:rs2285477}, {ClinVar:129658}" "" "" "rs2285477" "0000001325" "3" "10" "17" "10632701" "10632701" "subst" "0" "00002" "MYH3_000009" "g.10632701G>A" "10/51" "{PMID:Sathiya Maran et al. (2020):32315303}, {dbSNP:rs2285479}, {ClinVar:129663}" "" "" "rs2285479" "0000001326" "0" "90" "17" "10632701" "10632701" "subst" "0" "00002" "MYH3_000009" "g.10632701G>A" "24/51" "{PMID:Sathiya Maran et al. (2020):32315303}, {dbSNP:rs2285479}, {ClinVar:129663}" "" "" "rs2285479" "0000001327" "3" "90" "17" "10636778" "10636778" "subst" "0" "00002" "MYH3_000010" "g.10636778T>G" "9/51" "{PMID:Sathiya Maran et al. (2020):32315303}, {dbSNP:rs55980976}" "" "" "rs55980976" "0000001328" "0" "90" "17" "10636778" "10636778" "subst" "0" "00002" "MYH3_000010" "g.10636778T>G" "21/51" "{PMID:Sathiya Maran et al. (2020):32315303}, {dbSNP:rs55980976}" "" "" "rs55980976" "0000001329" "0" "00" "17" "10630279" "10630279" "dup" "0" "00002" "MYH3_000011" "g.10630279dup" "33/51" "{PMID:Sathiya Maran et al. (2020):32315303}, {dbSNP:rs397750512}, {ClinVar:258698}" "" "" "rs397750512" "0000001330" "3" "30" "17" "10651704" "10651704" "subst" "0" "00002" "MYH3_000012" "g.10651704T>C" "1/51" "{PMID:Sathiya Maran et al. (2020):32315303}, {dbSNP:rs2285467}, {ClinVar:258681}" "" "" "rs2285467" "0000001331" "0" "30" "17" "10651704" "10651704" "subst" "0" "00002" "MYH3_000012" "g.10651704T>C" "12/51" "{PMID:Sathiya Maran et al. (2020):32315303}, {dbSNP:rs2285467}, {ClinVar:258681}" "" "" "rs2285467" ## 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 MYH3 ## Count = 21 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Published_as}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000001311" "00000069" "00" "6" "0" "6" "0" "c.6T>C" "" "p.(=)" "r.(=)" "" "" "{ClinVar:129667}" "0000001312" "00000069" "10" "2952" "0" "2952" "0" "c.2952T>C" "" "p.(=)" "r.(=)" "" "" "{ClinVar:129653}" "0000001313" "00000069" "10" "2952" "0" "2952" "0" "c.2952T>C" "" "p.(=)" "r.(=)" "" "" "{ClinVar:129653}" "0000001314" "00000069" "90" "4648" "-134" "4648" "-134" "c.4648-134A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001315" "00000069" "90" "4648" "-134" "4648" "-134" "c.4648-134A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001316" "00000069" "10" "5254" "0" "5254" "0" "c.5254G>A" "" "p.(Ala1752Thr)" "r.(?)" "" "" "{ClinVar:129664}" "0000001317" "00000069" "10" "4957" "-16" "4957" "-16" "c.4957-16G>T" "" "p.(=)" "r.(=)" "" "" "{ClinVar:258691}" "0000001318" "00000069" "10" "4957" "-16" "4957" "-16" "c.4957-16G>T" "" "p.(=)" "r.(=)" "" "" "{ClinVar:258691}" "0000001319" "00000069" "10" "2916" "0" "2916" "0" "c.2916A>G" "" "p.(=)" "r.(=)" "" "" "{ClinVar:129652}" "0000001320" "00000069" "10" "2916" "0" "2916" "0" "c.2916A>G" "" "p.(=)" "r.(=)" "" "" "{ClinVar:129652}" "0000001321" "00000069" "10" "2926" "-12" "2926" "-12" "c.2926-12A>G" "" "p.(=)" "r.(=)" "" "" "{ClinVar:258676}" "0000001322" "00000069" "10" "2926" "-12" "2926" "-12" "c.2926-12A>G" "" "p.(=)" "r.(=)" "" "" "{ClinVar:258676}" "0000001323" "00000069" "10" "3574" "0" "3574" "0" "c.3574G>A" "" "p.(Ala1192Thr)" "r.(?)" "" "" "{ClinVar:129658}" "0000001324" "00000069" "10" "3574" "0" "3574" "0" "c.3574G>A" "" "p.(Ala1192Thr)" "r.(?)" "" "" "{ClinVar:129658}" "0000001325" "00000069" "10" "4731" "0" "4731" "0" "c.4731C>T" "" "p.(=)" "r.(=)" "" "" "{ClinVar:129663}" "0000001326" "00000069" "90" "4731" "0" "4731" "0" "c.4731C>T" "" "p.(=)" "r.(=)" "" "" "{ClinVar:129663}" "0000001327" "00000069" "90" "3857" "-925" "3857" "-925" "c.3857-925A>C" "" "p.(=)" "r.(=)" "" "" "" "0000001328" "00000069" "90" "3857" "-925" "3857" "-925" "c.3857-925A>C" "" "p.(=)" "r.(=)" "" "" "" "0000001329" "00000069" "00" "5457" "9" "5457" "9" "c.5457+9dup" "" "p.(=)" "r.(=)" "" "" "{ClinVar:258698}" "0000001330" "00000069" "30" "349" "-36" "349" "-36" "c.349-36A>G" "" "p.(=)" "r.(=)" "" "" "{ClinVar:258681}" "0000001331" "00000069" "30" "349" "-36" "349" "-36" "c.349-36A>G" "" "p.(=)" "r.(=)" "" "" "{ClinVar:258681}" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000000280" "0000001311" "0000000280" "0000001312" "0000000280" "0000001313" "0000000280" "0000001314" "0000000280" "0000001315" "0000000280" "0000001316" "0000000280" "0000001317" "0000000280" "0000001318" "0000000280" "0000001319" "0000000280" "0000001320" "0000000280" "0000001321" "0000000280" "0000001322" "0000000280" "0000001323" "0000000280" "0000001324" "0000000280" "0000001325" "0000000280" "0000001326" "0000000280" "0000001327" "0000000280" "0000001328" "0000000280" "0000001329" "0000000280" "0000001330" "0000000280" "0000001331"