### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MC4R) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "MC4R" "melanocortin 4 receptor" "18" "q22" "unknown" "NC_000018.9" "UD_132118328215" "" "" "" "1" "1" "6932" "4160" "155541" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2013-11-26 22:01:33" "" "" "00000" "2013-11-26 22:01:33" "" ## 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}}" "{{iNote}}" "{{chrom}}" "00003115" "MC4R" "melanocortin 4 receptor" "001" "NM_005912.2" "" "NP_005903.2" "" "" "" "-419" "1019" "999" "58038564" "58040001" "00000" "2013-11-26 22:01:33" "" "" "" "18" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00114" "601665" "Obesity, autosomal dominant, 601665 (3)" "601665" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MC4R" "00114" ## 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 ## ## 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 = 68 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000000728" "0" "99" "18" "58038636" "58038636" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-05-14 00:46:46" "MC4R_000020" "g.58038636A>C" "" "{PMID:12588803:12588803};{PMID:12646665:12646665}" "" "rs121913564" "subst" "0" "; clinVar; Ensembl;" "6.060" "" "" "" "" "MSCV_0000728" "" "0000000729" "0" "99" "18" "58038687" "58038687" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-05-13 14:56:14" "MC4R_000021" "g.58038687G>T" "" "{PMID:17357083:17357083};{PMID:18559663:18559663};{PMID:18801902:18801902}" "" "rs52804924" "subst" "0" "; clinVar; Ensembl;" "6.060" "" "" "" "" "MSCV_0000729" "" "0000000730" "0" "99" "18" "58038722" "58038722" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-11 03:18:09" "MC4R_000022" "g.58038722A>T" "" "{PMID:12646665:12646665};{PMID:12588803:12588803}" "" "rs121917829" "subst" "0" "; clinVar; Ensembl;" "-1.830" "" "" "" "" "MSCV_0000730" "" "0000000731" "0" "99" "18" "58038746" "58038747" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-11 04:17:19" "MC4R_000017" "g.58038746_58038747insCA" "" "{PMID:12646665:12646665};{PMID:18801902:18801902}" "" "rs193922687" "ins" "0" "; clinVar; Ensembl;" "" "" "" "" "" "MSCV_0000731" "" "0000000732" "0" "00" "18" "58038747" "58038748" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-05-13 15:23:50" "MC4R_000018" "g.58038747_58038748insCA" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0000732" "" "0000000733" "0" "99" "18" "58038762" "58038762" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-05-15 01:58:17" "MC4R_000019" "g.58038762T>C" "" "{PMID:11443223:11443223}" "" "rs121913561" "subst" "0" "; clinVar; Ensembl;" "5.850" "" "" "" "" "MSCV_0000733" "" "0000000734" "0" "99" "18" "58038771" "58038771" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-05-13 16:51:36" "MC4R_000013" "g.58038771C>T" "" "{PMID:12646665:12646665};{PMID:12588803:12588803}" "" "rs121913562" "subst" "0" "; clinVar; Ensembl;" "5.850" "" "" "" "" "MSCV_0000734" "" "0000000735" "0" "77" "18" "58038777" "58038777" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-05-13 14:58:15" "MC4R_000014" "g.58038777A>T" "" "{PMID:18801902:18801902}" "" "rs79783591" "subst" "0" "; clinVar; Ensembl;" "5.850" "" "" "" "" "MSCV_0000735" "" "0000000736" "0" "77" "18" "58038906" "58038906" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-05-15 02:06:10" "MC4R_000015" "g.58038906A>G" "" "" "" "rs193922686" "subst" "0" "; clinVar;" "5.850" "" "" "" "" "MSCV_0000736" "" "0000000737" "0" "99" "18" "58038927" "58038927" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-11 04:44:35" "MC4R_000016" "g.58038927G>A" "" "{PMID:15486053:15486053}" "" "rs121913567" "subst" "0" "; clinVar; Ensembl;" "5.850" "" "" "" "" "MSCV_0000737" "" "0000000738" "0" "77" "18" "58038977" "58038977" "subst" "35" "0.00269107" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-10 22:40:25" "MC4R_000010" "g.58038977G>T" "" "" "" "rs138281308" "subst" "0" "; clinVar; Ensembl;" "4.980" "" "" "" "" "MSCV_0000738" "" "0000000739" "0" "77" "18" "58039045" "58039045" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-11 01:16:02" "MC4R_000011" "g.58039045A>G" "" "" "" "rs193922685" "subst" "0" "; clinVar; Ensembl;" "4.670" "" "" "" "" "MSCV_0000739" "" "0000000740" "0" "99" "18" "58039060" "58039060" "subst" "35" "0.000691988" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-11 05:38:40" "MC4R_000012" "g.58039060C>T" "" "{PMID:12646665:12646665};{PMID:25333069:25333069}" "" "rs121913563" "subst" "0" "; clinVar; Ensembl;" "4.970" "" "" "" "" "MSCV_0000740" "" "0000000741" "0" "99" "18" "58039075" "58039075" "subst" "35" "0.00030755" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-11 03:57:47" "MC4R_000001" "g.58039075T>C" "" "{PMID:11487744:11487744}" "" "rs121913560" "subst" "0" "; clinVar; Ensembl;" "3.370" "" "" "" "" "MSCV_0000741" "" "0000000742" "0" "99" "18" "58039203" "58039203" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-05-15 02:00:57" "MC4R_000002" "g.58039203G>A" "" "{PMID:14764818:14764818};{PMID:12499395:12499395};{PMID:12970296:12970296}" "" "rs13447331" "subst" "0" "; clinVar; Ensembl;" "5.710" "" "" "" "" "MSCV_0000742" "" "0000000743" "0" "99" "18" "58039278" "58039278" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-05-13 15:58:15" "MC4R_000003" "g.58039278A>C" "" "{PMID:11487744:11487744};{PMID:16030156:16030156}" "" "rs121913559" "subst" "0" "; clinVar; Ensembl;" "5.860" "" "" "" "" "MSCV_0000743" "" "0000000744" "0" "99" "18" "58039294" "58039294" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-05-13 14:54:05" "MC4R_000004" "g.58039294T>C" "" "{PMID:12588803:12588803};{PMID:12646665:12646665}" "" "rs121913565" "subst" "0" "; clinVar; Ensembl;" "5.860" "" "" "" "" "MSCV_0000744" "" "0000000745" "0" "99" "18" "58039398" "58039398" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:48:03" "MC4R_000005" "g.58039398T>C" "" "{PMID:12646665:12646665}" "" "rs121913566" "subst" "0" "; clinVar; Ensembl;" "5.560" "" "" "" "" "MSCV_0000745" "" "0000000746" "0" "99" "18" "58039411" "58039411" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:48:04" "MC4R_000006" "g.58039411T>A" "" "{PMID:11487744:11487744}" "" "rs121913558" "subst" "0" "; clinVar; Ensembl;" "5.560" "" "" "" "" "MSCV_0000746" "" "0000000747" "0" "99" "18" "58039435" "58039435" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-05-13 15:02:40" "MC4R_000007" "g.58039435C>T" "" "{PMID:11487744:11487744}" "" "rs121913557" "subst" "0" "; clinVar; Ensembl;" "5.560" "" "" "" "" "MSCV_0000747" "" "0000000748" "0" "99" "18" "58039473" "58039473" "subst" "35" "0.000153775" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-05-15 02:03:54" "MC4R_000008" "g.58039473T>A" "" "{PMID:12646665:12646665};{PMID:18801902:18801902};{PMID:16507637:16507637};{PMID:20966905:20966905};{PMID:10199800:10199800};{PMID:12970296:12970296};{PMID:19301229:19301229}" "" "rs13447325" "subst" "0" "; clinVar; Ensembl;" "4.400" "" "" "" "" "MSCV_0000748" "" "0000000749" "0" "99" "18" "58039478" "58039478" "subst" "35" "0.000153775" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-11 04:45:46" "MC4R_000009" "g.58039478G>T" "" "{PMID:10199800:10199800};{PMID:16507637:16507637};{PMID:18801902:18801902};{PMID:10577903:10577903}" "" "rs13447324" "subst" "0" "; clinVar; Ensembl;" "3.720" "" "" "" "" "MSCV_0000749" "" "0000018515" "0" "99" "18" "58038636" "58038636" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-30 04:30:24" "MC4R_000020" "g.58038636A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000728" "" "0000018516" "0" "55" "18" "58038669" "58038669" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 14:57:46" "MC4R_000043" "g.58038669C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018516" "" "0000018517" "0" "99" "18" "58038687" "58038687" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 15:00:55" "MC4R_000021" "g.58038687G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000729" "" "0000018518" "0" "99" "18" "58038722" "58038722" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 18:33:27" "MC4R_000022" "g.58038722A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000730" "" "0000018519" "0" "99" "18" "58038745" "58038745" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-11 05:10:54" "MC4R_000034" "g.58038745A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018519" "" "0000018520" "0" "99" "18" "58038746" "58038747" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-15 02:07:17" "MC4R_000017" "g.58038746_58038747insCA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000731" "" "0000018521" "0" "99" "18" "58038762" "58038762" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 15:26:29" "MC4R_000019" "g.58038762T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000733" "" "0000018522" "0" "99" "18" "58038771" "58038771" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 15:01:47" "MC4R_000013" "g.58038771C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000734" "" "0000018523" "0" "77" "18" "58038777" "58038777" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-15 09:53:10" "MC4R_000014" "g.58038777A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000735" "" "0000018524" "0" "55" "18" "58038807" "58038807" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 16:54:58" "MC4R_000035" "g.58038807G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018524" "" "0000018525" "0" "99" "18" "58038826" "58038826" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 15:56:29" "MC4R_000023" "g.58038826C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018525" "" "0000018526" "0" "77" "18" "58038832" "58038832" "subst" "35" "0.00884207" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-11 09:15:37" "MC4R_000024" "g.58038832T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018526" "" "0000018527" "0" "55" "18" "58038906" "58038906" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-11 07:48:47" "MC4R_000015" "g.58038906A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000736" "" "0000018528" "0" "99" "18" "58038927" "58038927" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 15:24:49" "MC4R_000016" "g.58038927G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000737" "" "0000018529" "0" "77" "18" "58038977" "58038977" "subst" "35" "0.00269107" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 16:52:13" "MC4R_000010" "g.58038977G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000738" "" "0000018530" "0" "33" "18" "58038989" "58038989" "subst" "35" "0.0106105" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 15:03:33" "MC4R_000025" "g.58038989G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018530" "" "0000018531" "0" "77" "18" "58039045" "58039045" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 17:34:45" "MC4R_000011" "g.58039045A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000739" "" "0000018532" "0" "99" "18" "58039060" "58039060" "subst" "35" "0.000691988" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 14:26:42" "MC4R_000012" "g.58039060C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000740" "" "0000018533" "0" "99" "18" "58039075" "58039075" "subst" "35" "0.00030755" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-11 05:00:38" "MC4R_000001" "g.58039075T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000741" "" "0000018534" "0" "77" "18" "58039089" "58039089" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 16:37:04" "MC4R_000026" "g.58039089C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018534" "" "0000018535" "0" "77" "18" "58039134" "58039134" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 15:04:25" "MC4R_000027" "g.58039134G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018535" "" "0000018536" "0" "77" "18" "58039203" "58039203" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-15 02:02:47" "MC4R_000002" "g.58039203G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000742" "" "0000018537" "0" "33" "18" "58039276" "58039276" "subst" "35" "0.0182992" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 18:02:18" "MC4R_000028" "g.58039276C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018537" "" "0000018538" "0" "99" "18" "58039278" "58039278" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-14 01:21:28" "MC4R_000003" "g.58039278A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000743" "" "0000018539" "0" "99" "18" "58039294" "58039294" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 16:01:47" "MC4R_000004" "g.58039294T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000744" "" "0000018540" "0" "55" "18" "58039382" "58039382" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-15 02:01:39" "MC4R_000029" "g.58039382C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018540" "" "0000018541" "0" "99" "18" "58039398" "58039398" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 15:59:11" "MC4R_000005" "g.58039398T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000745" "" "0000018542" "0" "99" "18" "58039402" "58039402" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-11 05:53:47" "MC4R_000030" "g.58039402C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018542" "" "0000018543" "0" "99" "18" "58039411" "58039411" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 16:03:32" "MC4R_000006" "g.58039411T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000746" "" "0000018544" "0" "99" "18" "58039422" "58039422" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 15:55:36" "MC4R_000031" "g.58039422A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018544" "" "0000018545" "0" "99" "18" "58039435" "58039435" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 14:59:08" "MC4R_000007" "g.58039435C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000747" "" "0000018546" "0" "33" "18" "58039473" "58039473" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 14:52:58" "MC4R_000008" "g.58039473T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000748" "" "0000018547" "0" "99" "18" "58039478" "58039478" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 16:30:54" "MC4R_000009" "g.58039478G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000749" "" "0000018548" "0" "99" "18" "58039519" "58039520" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-11 04:37:33" "MC4R_000032" "g.58039519_58039520del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018548" "" "0000018549" "0" "55" "18" "58039600" "58039600" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 16:02:40" "MC4R_000033" "g.58039600A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018549" "" "0000018550" "0" "55" "18" "58039642" "58039642" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 14:31:07" "MC4R_000036" "g.58039642G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018550" "" "0000018551" "0" "55" "18" "58039648" "58039648" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-11 04:55:37" "MC4R_000037" "g.58039648G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018551" "" "0000018552" "0" "55" "18" "58039743" "58039743" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 18:04:23" "MC4R_000038" "g.58039743G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018552" "" "0000018553" "0" "33" "18" "58039760" "58039760" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 15:25:36" "MC4R_000039" "g.58039760T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018553" "" "0000018554" "0" "55" "18" "58039802" "58039802" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 15:31:09" "MC4R_000040" "g.58039802C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018554" "" "0000018555" "0" "55" "18" "58039957" "58039957" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 14:57:20" "MC4R_000041" "g.58039957C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018555" "" "0000018556" "0" "55" "18" "58039968" "58039968" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-13 14:55:06" "MC4R_000042" "g.58039968C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018556" "" "0000025527" "0" "00" "18" "58038756" "58038756" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-05-14 01:45:05" "MC4R_000047" "g.58038756T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025528" "0" "00" "18" "58038834" "58038834" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-11 05:21:48" "MC4R_000046" "g.58038834A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025529" "0" "00" "18" "58039087" "58039087" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-05-13 15:05:18" "MC4R_000044" "g.58039087C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025530" "0" "00" "18" "58039117" "58039117" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-05-13 16:04:19" "MC4R_000045" "g.58039117G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## 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. ## Count = 68 "{{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/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000000728" "00003115" "99" "947" "0" "947" "0" "c.947T>G" "1/1" "p.(Ile316Ser)" "r.(?)" "benign(0.343)" "" "missense_variant" "" "" "deleterious(0)" "0000000729" "00003115" "99" "896" "0" "896" "0" "c.896C>A" "1/1" "p.(Pro299His)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000730" "00003115" "99" "861" "0" "861" "0" "c.861T>A" "1/1" "p.(Tyr287*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000731" "00003115" "99" "837" "0" "836" "0" "c.836_837insTG" "" "p.(Phe280Alafs*12)" "r.(?)" "" "" "" "" "" "-" "0000000732" "00003115" "00" "836" "0" "835" "0" "c.835_836insTG" "1/1" "p.(Cys279Leufs*13)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000000733" "00003115" "99" "821" "0" "821" "0" "c.821A>G" "1/1" "p.(Asn274Ser)" "r.(?)" "probably_damaging(0.992)" "" "missense_variant" "" "" "tolerated(0.08)" "0000000734" "00003115" "99" "812" "0" "812" "0" "c.812G>A" "1/1" "p.(Cys271Tyr)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000000735" "00003115" "77" "806" "0" "806" "0" "c.806T>A" "1/1" "p.(Ile269Asn)" "r.(?)" "probably_damaging(0.929)" "" "missense_variant" "" "" "deleterious(0)" "0000000736" "00003115" "77" "677" "0" "677" "0" "c.677T>C" "1/1" "p.(Ile226Thr)" "r.(?)" "probably_damaging(0.994)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000737" "00003115" "99" "656" "0" "656" "0" "c.656C>T" "1/1" "p.(Ala219Val)" "r.(?)" "probably_damaging(0.996)" "" "missense_variant" "" "" "deleterious(0)" "0000000738" "00003115" "77" "606" "0" "606" "0" "c.606C>A" "1/1" "p.(Phe202Leu)" "r.(?)" "benign(0.005)" "" "missense_variant" "" "" "tolerated(0.98)" "0000000739" "00003115" "77" "538" "0" "538" "0" "c.538T>C" "1/1" "p.(Ser180Pro)" "r.(?)" "possibly_damaging(0.637)" "" "missense_variant" "" "" "deleterious(0.05)" "0000000740" "00003115" "99" "523" "0" "523" "0" "c.523G>A" "1/1" "p.(Ala175Thr)" "r.(?)" "benign(0.068)" "" "missense_variant" "" "" "tolerated(1)" "0000000741" "00003115" "99" "508" "0" "508" "0" "c.508A>G" "1/1" "p.(Ile170Val)" "r.(?)" "benign(0.084)" "" "missense_variant" "" "" "tolerated(0.08)" "0000000742" "00003115" "99" "380" "0" "380" "0" "c.380C>T" "1/1" "p.(Ser127Leu)" "r.(?)" "probably_damaging(0.994)" "" "missense_variant" "" "" "tolerated(0.27)" "0000000743" "00003115" "99" "305" "0" "305" "0" "c.305T>G" "1/1" "p.(Ile102Ser)" "r.(?)" "possibly_damaging(0.81)" "" "missense_variant" "" "" "deleterious(0.03)" "0000000744" "00003115" "99" "289" "0" "289" "0" "c.289A>G" "1/1" "p.(Asn97Asp)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000745" "00003115" "99" "185" "0" "185" "0" "c.185A>G" "1/1" "p.(Asn62Ser)" "r.(?)" "probably_damaging(0.992)" "" "missense_variant" "" "" "deleterious(0)" "0000000746" "00003115" "99" "172" "0" "172" "0" "c.172A>T" "1/1" "p.(Ser58Cys)" "r.(?)" "probably_damaging(0.993)" "" "missense_variant" "" "" "deleterious(0)" "0000000747" "00003115" "99" "148" "0" "148" "0" "c.148G>A" "1/1" "p.(Val50Met)" "r.(?)" "probably_damaging(0.994)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000748" "00003115" "99" "110" "0" "110" "0" "c.110A>T" "1/1" "p.(Asp37Val)" "r.(?)" "benign(0.01)" "" "missense_variant" "" "" "tolerated(0.17)" "0000000749" "00003115" "99" "105" "0" "105" "0" "c.105C>A" "1/1" "p.(Tyr35*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000018515" "00003115" "00" "947" "0" "947" "0" "c.947T>G" "" "p.(Ile316Ser)" "r.(?)" "" "" "" "" "" "-" "0000018516" "00003115" "00" "914" "0" "914" "0" "c.914G>A" "" "p.(Arg305Gln)" "r.(?)" "" "" "" "" "" "-" "0000018517" "00003115" "00" "896" "0" "896" "0" "c.896C>A" "" "p.(Pro299His)" "r.(?)" "" "" "" "" "" "-" "0000018518" "00003115" "00" "861" "0" "861" "0" "c.861T>A" "" "p.(Tyr287*)" "r.(?)" "" "" "" "" "" "-" "0000018519" "00003115" "00" "838" "0" "838" "0" "c.838T>C" "" "p.(Phe280Leu)" "r.(?)" "" "" "" "" "" "-" "0000018520" "00003115" "00" "836" "0" "837" "0" "c.836_837insTG" "" "p.(Phe280Alafs*12)" "r.(?)" "" "" "" "" "" "-" "0000018521" "00003115" "00" "821" "0" "821" "0" "c.821A>G" "" "p.(Asn274Ser)" "r.(?)" "" "" "" "" "" "-" "0000018522" "00003115" "00" "812" "0" "812" "0" "c.812G>A" "" "p.(Cys271Tyr)" "r.(?)" "" "" "" "" "" "-" "0000018523" "00003115" "00" "806" "0" "806" "0" "c.806T>A" "" "p.(Ile269Asn)" "r.(?)" "" "" "" "" "" "-" "0000018524" "00003115" "00" "776" "0" "776" "0" "c.776C>T" "" "p.(Ala259Val)" "r.(?)" "" "" "" "" "" "-" "0000018525" "00003115" "00" "757" "0" "757" "0" "c.757G>A" "" "p.(Val253Ile)" "r.(?)" "" "" "" "" "" "-" "0000018526" "00003115" "00" "751" "0" "751" "0" "c.751A>C" "" "p.(Ile251Leu)" "r.(?)" "" "" "" "" "" "-" "0000018527" "00003115" "00" "677" "0" "677" "0" "c.677T>C" "" "p.(Ile226Thr)" "r.(?)" "" "" "" "" "" "-" "0000018528" "00003115" "00" "656" "0" "656" "0" "c.656C>T" "" "p.(Ala219Val)" "r.(?)" "" "" "" "" "" "-" "0000018529" "00003115" "00" "606" "0" "606" "0" "c.606C>A" "" "p.(Phe202Leu)" "r.(?)" "" "" "" "" "" "-" "0000018530" "00003115" "00" "594" "0" "594" "0" "c.594C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018531" "00003115" "00" "538" "0" "538" "0" "c.538T>C" "" "p.(Ser180Pro)" "r.(?)" "" "" "" "" "" "-" "0000018532" "00003115" "00" "523" "0" "523" "0" "c.523G>A" "" "p.(Ala175Thr)" "r.(?)" "" "" "" "" "" "-" "0000018533" "00003115" "00" "508" "0" "508" "0" "c.508A>G" "" "p.(Ile170Val)" "r.(?)" "" "" "" "" "" "-" "0000018534" "00003115" "00" "494" "0" "494" "0" "c.494G>A" "" "p.(Arg165Gln)" "r.(?)" "" "" "" "" "" "-" "0000018535" "00003115" "00" "449" "0" "449" "0" "c.449C>T" "" "p.(Thr150Ile)" "r.(?)" "" "" "" "" "" "-" "0000018536" "00003115" "00" "380" "0" "380" "0" "c.380C>T" "" "p.(Ser127Leu)" "r.(?)" "" "" "" "" "" "-" "0000018537" "00003115" "00" "307" "0" "307" "0" "c.307G>A" "" "p.(Val103Ile)" "r.(?)" "" "" "" "" "" "-" "0000018538" "00003115" "00" "305" "0" "305" "0" "c.305T>G" "" "p.(Ile102Ser)" "r.(?)" "" "" "" "" "" "-" "0000018539" "00003115" "00" "289" "0" "289" "0" "c.289A>G" "" "p.(Asn97Asp)" "r.(?)" "" "" "" "" "" "-" "0000018540" "00003115" "00" "201" "0" "201" "0" "c.201G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018541" "00003115" "00" "185" "0" "185" "0" "c.185A>G" "" "p.(Asn62Ser)" "r.(?)" "" "" "" "" "" "-" "0000018542" "00003115" "00" "181" "0" "181" "0" "c.181G>A" "" "p.(Glu61Lys)" "r.(?)" "" "" "" "" "" "-" "0000018543" "00003115" "00" "172" "0" "172" "0" "c.172A>T" "" "p.(Ser58Cys)" "r.(?)" "" "" "" "" "" "-" "0000018544" "00003115" "00" "161" "0" "161" "0" "c.161T>C" "" "p.(Leu54Pro)" "r.(?)" "" "" "" "" "" "-" "0000018545" "00003115" "00" "148" "0" "148" "0" "c.148G>A" "" "p.(Val50Met)" "r.(?)" "" "" "" "" "" "-" "0000018546" "00003115" "00" "110" "0" "110" "0" "c.110A>T" "" "p.(Asp37Val)" "r.(?)" "" "" "" "" "" "-" "0000018547" "00003115" "00" "105" "0" "105" "0" "c.105C>A" "" "p.(Tyr35*)" "r.(?)" "" "" "" "" "" "-" "0000018548" "00003115" "00" "63" "0" "64" "0" "c.63_64del" "" "p.(Tyr21*)" "r.(?)" "" "" "" "" "" "-" "0000018549" "00003115" "00" "-18" "0" "-18" "0" "c.-18T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018550" "00003115" "00" "-60" "0" "-60" "0" "c.-60C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018551" "00003115" "00" "-66" "0" "-66" "0" "c.-66C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018552" "00003115" "00" "-161" "0" "-161" "0" "c.-161C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018553" "00003115" "00" "-178" "0" "-178" "0" "c.-178A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018554" "00003115" "00" "-220" "0" "-220" "0" "c.-220G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018555" "00003115" "00" "-375" "0" "-375" "0" "c.-375G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018556" "00003115" "00" "-386" "0" "-386" "0" "c.-386G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025527" "00003115" "00" "827" "0" "827" "0" "c.827A>G" "" "p.(Tyr276Cys)" "r.(?)" "" "" "" "" "" "-" "0000025528" "00003115" "00" "749" "0" "749" "0" "c.749T>A" "" "p.(Leu250Gln)" "r.(?)" "" "" "" "" "" "-" "0000025529" "00003115" "00" "496" "0" "496" "0" "c.496G>A" "" "p.(Val166Ile)" "r.(?)" "" "" "" "" "" "-" "0000025530" "00003115" "00" "466" "0" "466" "0" "c.466C>T" "" "p.(Gln156*)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0