### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = C19orf12) # 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}}" "C19orf12" "chromosome 19 open reading frame 12" "19" "q13.11" "unknown" "NC_000019.9" "UD_135946757070" "" "" "" "1" "1" "25443" "83636" "614297" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2013-11-18 16:47:03" "" "" "00000" "2013-11-18 16:47:03" "" ## 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}}" "00003109" "C19orf12" "transcript variant 2" "004" "NM_031448.4" "" "NP_113636.2" "" "" "" "-431" "4252" "426" "30189793" "30206452" "00000" "2013-11-18 16:47:03" "" "" "" "19" ## 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}}" "00422" "NBIA4" "NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4" "614298" "" "" "" "00001" "2014-04-08 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "C19orf12" "00422" ## 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 = 120 "{{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}}" "0000000764" "0" "99" "19" "30193654" "30193654" "subst" "35" "0.0012302" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 17:48:42" "C19orf12_000007" "g.30193654T>C" "" "{PMID:21981780:21981780}" "" "rs146170087" "subst" "0" "; clinVar; Ensembl;" "2.960" "" "" "" "" "MSCV_0000764" "" "0000000765" "0" "99" "19" "30193683" "30193683" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 17:53:42" "C19orf12_000008" "g.30193683A>T" "" "{PMID:22508347:22508347}" "" "rs387907173" "subst" "0" "; clinVar;" "5.200" "" "" "" "" "MSCV_0000765" "" "0000000766" "0" "00" "19" "30193716" "30193716" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 17:38:21" "C19orf12_000006" "g.30193716A>T" "" "" "" "NA" "subst" "0" ";" "4.030" "" "" "" "" "MSCV_0000766" "" "0000000767" "0" "99" "19" "30193873" "30193873" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 17:51:11" "C19orf12_000005" "g.30193873C>T" "" "" "" "" "subst" "0" ";" "4.170" "" "" "" "" "MSCV_0000767" "" "0000000768" "0" "99" "19" "30193879" "30193881" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 17:40:58" "C19orf12_000001" "g.30193879_30193881del" "" "{PMID:23857908:23857908};{PMID:22584950:22584950}" "" "rs398122409" "del" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000768" "" "0000000769" "0" "99" "19" "30199167" "30199167" "subst" "35" "0.000248797" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 17:46:09" "C19orf12_000002" "g.30199167C>G" "" "{PMID:20039086:20039086};{PMID:23857908:23857908}" "" "rs376103979" "subst" "0" "; clinvar;" "5.830" "" "" "" "" "MSCV_0000769" "" "0000000770" "0" "55" "19" "30199200" "30199200" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 17:40:30" "C19orf12_000003" "g.30199200C>G" "" "" "" "" "subst" "0" ";" "-1.450" "" "" "" "" "MSCV_0000770" "" "0000000771" "0" "99" "19" "30199322" "30199322" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 17:48:09" "C19orf12_000004" "g.30199322G>A" "" "{PMID:24209434:24209434};{PMID:21981780:21981780};{PMID:23278385:23278385}" "" "rs397514477" "subst" "0" "; clinVar;" "-12.200" "" "" "" "" "MSCV_0000771" "" "0000002728" "0" "55" "19" "30193830" "30193830" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-04-10 17:52:00" "C19orf12_000009" "g.30193830G>A" "" "" "" "rs201987973" "subst" "0" ";" "5.200" "" "" "" "" "MSCV_0002728" "" "0000002732" "0" "55" "19" "30199197" "30199197" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-04-10 17:50:11" "C19orf12_000010" "g.30199197C>T" "" "" "" "rs200133991" "subst" "0" ";" "5.030" "" "" "" "" "MSCV_0002732" "" "0000005207" "0" "99" "19" "30193830" "30193830" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2019-04-10 17:34:13" "C19orf12_000009" "g.30193830G>A" "" "" "" "rs201987973" "subst" "0" "; ensembl;" "5.200" "" "" "" "" "MSCV_0005207" "" "0000005208" "0" "99" "19" "30199197" "30199197" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2019-04-10 17:49:11" "C19orf12_000010" "g.30199197C>T" "" "" "" "rs200133991" "subst" "0" "; ensembl;" "5.030" "" "" "" "" "MSCV_0005208" "" "0000018612" "0" "11" "19" "30189800" "30189800" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:21:53" "C19orf12_000103" "g.30189800A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018612" "" "0000018613" "0" "55" "19" "30189874" "30189874" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:21:54" "C19orf12_000104" "g.30189874C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018613" "" "0000018614" "0" "55" "19" "30189947" "30189947" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:21:55" "C19orf12_000105" "g.30189947G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018614" "" "0000018615" "0" "33" "19" "30190048" "30190048" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:21:56" "C19orf12_000106" "g.30190048G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018615" "" "0000018616" "0" "55" "19" "30190099" "30190099" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:12:06" "C19orf12_000090" "g.30190099G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018616" "" "0000018617" "0" "33" "19" "30190101" "30190101" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:12:07" "C19orf12_000091" "g.30190101G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018617" "" "0000018618" "0" "55" "19" "30190127" "30190127" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:12:09" "C19orf12_000092" "g.30190127C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018618" "" "0000018619" "0" "11" "19" "30190156" "30190156" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:22:50" "C19orf12_000093" "g.30190156C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018619" "" "0000018620" "0" "33" "19" "30190202" "30190202" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:26:28" "C19orf12_000094" "g.30190202G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018620" "" "0000018621" "0" "00" "19" "30190216" "30190217" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:12:14" "C19orf12_000095" "g.30190216_30190217insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018621" "" "0000018622" "0" "33" "19" "30190219" "30190220" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:12:15" "C19orf12_000096" "g.30190219_30190220insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018622" "" "0000018623" "0" "55" "19" "30190247" "30190247" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:12:16" "C19orf12_000097" "g.30190247G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018623" "" "0000018624" "0" "55" "19" "30190282" "30190282" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:32:16" "C19orf12_000098" "g.30190282C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018624" "" "0000018625" "0" "33" "19" "30190283" "30190283" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:06:14" "C19orf12_000099" "g.30190283G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018625" "" "0000018626" "0" "55" "19" "30190315" "30190315" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:43:40" "C19orf12_000100" "g.30190315A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018626" "" "0000018627" "0" "55" "19" "30190325" "30190325" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:00:32" "C19orf12_000034" "g.30190325G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018627" "" "0000018628" "0" "55" "19" "30190331" "30190331" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:53:19" "C19orf12_000035" "g.30190331A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018628" "" "0000018629" "0" "55" "19" "30190377" "30190377" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:52:26" "C19orf12_000036" "g.30190377G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018629" "" "0000018630" "0" "11" "19" "30190390" "30190392" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:28:58" "C19orf12_000037" "g.30190390_30190392del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018630" "" "0000018631" "0" "55" "19" "30190402" "30190402" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:26:16" "C19orf12_000038" "g.30190402A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018631" "" "0000018632" "0" "11" "19" "30190522" "30190523" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:32:30" "C19orf12_000039" "g.30190522_30190523insC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018632" "" "0000018633" "0" "55" "19" "30190593" "30190593" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:44:35" "C19orf12_000040" "g.30190593C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018633" "" "0000018634" "0" "11" "19" "30190658" "30190658" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:26:57" "C19orf12_000041" "g.30190658A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018634" "" "0000018635" "0" "33" "19" "30190663" "30190663" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:51:50" "C19orf12_000042" "g.30190663C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018635" "" "0000018636" "0" "33" "19" "30190726" "30190726" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:50:40" "C19orf12_000043" "g.30190726C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018636" "" "0000018637" "0" "11" "19" "30190828" "30190829" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:51:14" "C19orf12_000044" "g.30190828_30190829insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018637" "" "0000018638" "0" "33" "19" "30190856" "30190856" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:48:56" "C19orf12_000045" "g.30190856T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018638" "" "0000018639" "0" "33" "19" "30190928" "30190928" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:48:46" "C19orf12_000046" "g.30190928T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018639" "" "0000018640" "0" "33" "19" "30190957" "30190957" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:28:22" "C19orf12_000047" "g.30190957G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018640" "" "0000018641" "0" "55" "19" "30190998" "30190998" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:50:49" "C19orf12_000048" "g.30190998G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018641" "" "0000018642" "0" "33" "19" "30191093" "30191093" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:30:27" "C19orf12_000049" "g.30191093del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018642" "" "0000018643" "0" "55" "19" "30191170" "30191170" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:49:43" "C19orf12_000050" "g.30191170C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018643" "" "0000018644" "0" "33" "19" "30191246" "30191246" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:51:02" "C19orf12_000051" "g.30191246C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018644" "" "0000018645" "0" "55" "19" "30191309" "30191309" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-13 17:49:49" "C19orf12_000052" "g.30191309G>A" "" "" "" "" "" "0" "; 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clinvar;" "" "" "" "" "" "MSCV_0000767" "" "0000018701" "0" "99" "19" "30193879" "30193881" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:50:53" "C19orf12_000001" "g.30193879_30193881del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000768" "" "0000018702" "0" "99" "19" "30193886" "30193886" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:49:17" "C19orf12_000067" "g.30193886del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018702" "" "0000018703" "0" "77" "19" "30199167" "30199167" "subst" "35" "0.000248797" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:55:17" "C19orf12_000002" "g.30199167C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000769" "" "0000018704" "0" "99" "19" "30199197" "30199197" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:36:45" "C19orf12_000010" "g.30199197C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0002732" "" "0000018705" "0" "55" "19" "30199241" "30199241" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:51:57" "C19orf12_000068" "g.30199241T>A" "" "" "" "" "" "0" "; 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clinvar;" "" "" "" "" "" "MSCV_0018710" "" "0000018711" "0" "55" "19" "30205869" "30205869" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:40:08" "C19orf12_000073" "g.30205869C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018711" "" "0000018712" "0" "77" "19" "30205883" "30205883" "subst" "51" "0.000640205" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-03 14:45:52" "C19orf12_000074" "g.30205883C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018712" "" "0000018713" "0" "55" "19" "30205901" "30205901" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:49:55" "C19orf12_000075" "g.30205901G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018713" "" "0000018714" "0" "55" "19" "30205908" "30205908" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:29:17" "C19orf12_000076" "g.30205908C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018714" "" "0000018715" "0" "55" "19" "30205912" "30205912" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 17:48:04" "C19orf12_000077" "g.30205912A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018715" "" "0000025538" "0" "00" "19" "30193873" "30193873" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-08-27 07:41:17" "C19orf12_000005" "g.30193873C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025539" "0" "00" "19" "30193884" "30193884" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:53:49" "C19orf12_000107" "g.30193884C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025540" "0" "00" "19" "30199275" "30199275" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:53:57" "C19orf12_000108" "g.30199275A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025541" "0" "00" "19" "30199330" "30199330" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:54:06" "C19orf12_000109" "g.30199330C>G" "" "" "" "" "" "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 = 120 "{{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}}" "0000000764" "00003109" "99" "391" "0" "391" "0" "c.391A>G" "3/3" "p.(Lys131Glu)" "r.(?)" "benign(0.138)" "" "missense_variant" "" "" "deleterious(0.03)" "0000000765" "00003109" "99" "362" "0" "362" "0" "c.362T>A" "3/3" "p.(Leu121Gln)" "r.(?)" "probably_damaging(0.994)" "" "missense_variant" "" "" "deleterious(0)" "0000000766" "00003109" "00" "329" "0" "329" "0" "c.329T>A" "3/3" "p.(Leu110Gln)" "r.(?)" "possibly_damaging(0.603)" "" "missense_variant" "" "" "tolerated(0.08)" "0000000767" "00003109" "55" "172" "0" "172" "0" "c.172G>A" "2/2" "p.(Gly58Arg)" "r.(?)" "possibly_damaging(0.754)" "" "missense_variant" "" "" "tolerated(0.06)" "0000000768" "00003109" "99" "166" "0" "164" "0" "c.164_166del" "" "p.(Gly55del)" "r.(?)" "" "" "" "" "" "-" "0000000769" "00003109" "99" "154" "0" "154" "0" "c.154G>C" "1/2" "p.(Ala52Pro)" "r.(?)" "probably_damaging(0.994)" "" "missense_variant" "" "" "tolerated(0.06)" "0000000770" "00003109" "55" "121" "0" "121" "0" "c.121G>C" "1/2" "p.(Val41Leu)" "r.(?)" "benign(0.02)" "" "missense_variant" "" "" "tolerated(0.56)" "0000000771" "00003109" "99" "-2" "0" "-2" "0" "c.-2C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000002728" "00003109" "55" "215" "0" "215" "0" "c.215C>T" "2/2" "p.(Pro72Leu)" "r.(?)" "probably_damaging(0.985)" "" "missense_variant" "" "" "deleterious(0)" "0000002732" "00003109" "55" "124" "0" "124" "0" "c.124G>A" "1/2" "p.(Gly42Arg)" "r.(?)" "probably_damaging(0.947)" "" "missense_variant" "" "" "deleterious(0.03)" "0000005207" "00003109" "00" "215" "0" "215" "0" "c.215C>T" "2/2" "p.(Pro72Leu)" "r.(?)" "probably_damaging(0.985)" "" "missense_variant" "" "" "deleterious(0)" "0000005208" "00003109" "00" "124" "0" "124" "0" "c.124G>A" "1/2" "p.(Gly42Arg)" "r.(?)" "probably_damaging(0.947)" "" "missense_variant" "" "" "deleterious(0.03)" "0000018612" "00003109" "00" "4245" "0" "4245" "0" "c.*3819T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018613" "00003109" "00" "4171" "0" "4171" "0" "c.*3745G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018614" "00003109" "00" "4098" "0" "4098" "0" "c.*3672C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018615" "00003109" "00" "3997" "0" "3997" "0" "c.*3571C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018616" "00003109" "00" "3946" "0" "3946" "0" "c.*3520C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018617" "00003109" "00" "3944" "0" "3944" "0" "c.*3518C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018618" "00003109" "00" "3918" "0" "3918" "0" "c.*3492G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018619" "00003109" "00" "3889" "0" "3889" "0" "c.*3463G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018620" "00003109" "00" "3843" "0" "3843" "0" "c.*3417C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018621" "00003109" "00" "3828" "0" "3829" "0" "c.*3402_*3403insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018622" "00003109" "00" "3825" "0" "3826" "0" "c.*3399_*3400insA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018623" "00003109" "00" "3798" "0" "3798" "0" "c.*3372C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018624" "00003109" "00" "3763" "0" "3763" "0" "c.*3337G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018625" "00003109" "00" "3762" "0" "3762" "0" "c.*3336C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018626" "00003109" "00" "3730" "0" "3730" "0" "c.*3304T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018627" "00003109" "00" "3720" "0" "3720" "0" "c.*3294C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018628" "00003109" "00" "3714" "0" "3714" "0" "c.*3288T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018629" "00003109" "00" "3668" "0" "3668" "0" "c.*3242C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018630" "00003109" "00" "3653" "0" "3655" "0" "c.*3227_*3229del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018631" "00003109" "00" "3643" "0" "3643" "0" "c.*3217T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018632" "00003109" "00" "3522" "0" "3523" "0" "c.*3096_*3097insG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018633" "00003109" "00" "3452" "0" "3452" "0" "c.*3026G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018634" "00003109" "00" "3387" "0" "3387" "0" "c.*2961T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018635" "00003109" "00" "3382" "0" "3382" "0" "c.*2956G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018636" "00003109" "00" "3319" "0" "3319" "0" "c.*2893G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018637" "00003109" "00" "3216" "0" "3217" "0" "c.*2790_*2791insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018638" "00003109" "00" "3189" "0" "3189" "0" "c.*2763A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018639" "00003109" "00" "3117" "0" "3117" "0" "c.*2691A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018640" "00003109" "00" "3088" "0" "3088" "0" "c.*2662C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018641" "00003109" "00" "3047" "0" "3047" "0" "c.*2621C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018642" "00003109" "00" "2952" "0" "2952" "0" "c.*2526del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018643" "00003109" "00" "2875" "0" "2875" "0" "c.*2449G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018644" "00003109" "00" "2799" "0" "2799" "0" "c.*2373G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018645" "00003109" "00" "2736" "0" "2736" "0" "c.*2310C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018646" "00003109" "00" "2696" "0" "2696" "0" "c.*2270T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018647" "00003109" "00" "2648" "0" "2648" "0" "c.*2222A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018648" "00003109" "00" "2612" "0" "2612" "0" "c.*2186C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018649" "00003109" "00" "2526" "0" "2526" "0" "c.*2100G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018650" "00003109" "00" "2306" "0" "2306" "0" "c.*1880T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018651" "00003109" "00" "2252" "0" "2252" "0" "c.*1826G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018652" "00003109" "00" "2112" "0" "2112" "0" "c.*1686T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018653" "00003109" "00" "2097" "0" "2097" "0" "c.*1671C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018654" "00003109" "00" "2021" "0" "2021" "0" "c.*1595G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018655" "00003109" "00" "2018" "0" "2018" "0" "c.*1592A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018656" "00003109" "00" "1983" "0" "1983" "0" "c.*1557T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018657" "00003109" "00" "1962" "0" "1962" "0" "c.*1536T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018658" "00003109" "00" "1914" "0" "1914" "0" "c.*1488T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018659" "00003109" "00" "1879" "0" "1879" "0" "c.*1453C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018660" "00003109" "00" "1788" "0" "1788" "0" "c.*1362G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018661" "00003109" "00" "1645" "0" "1645" "0" "c.*1219C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018662" "00003109" "00" "1604" "0" "1604" "0" "c.*1178C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018663" "00003109" "00" "1596" "0" "1596" "0" "c.*1170C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018664" "00003109" "00" "1585" "0" "1585" "0" "c.*1159C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018665" "00003109" "00" "1584" "0" "1584" "0" "c.*1158C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018666" "00003109" "00" "1571" "0" "1571" "0" "c.*1145G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018667" "00003109" "00" "1570" "0" "1570" "0" "c.*1144C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018668" "00003109" "00" "1540" "0" "1540" "0" "c.*1114C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018669" "00003109" "00" "1463" "0" "1463" "0" "c.*1037A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018670" "00003109" "00" "1447" "0" "1448" "0" "c.*1021_*1022insA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018671" "00003109" "00" "1446" "0" "1446" "0" "c.*1020del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018672" "00003109" "00" "1446" "0" "1446" "0" "c.*1020C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018673" "00003109" "00" "1370" "0" "1370" "0" "c.*944A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018674" "00003109" "00" "1307" "0" "1307" "0" "c.*881G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018675" "00003109" "00" "1240" "0" "1240" "0" "c.*814G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018676" "00003109" "00" "1217" "0" "1217" "0" "c.*791G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018677" "00003109" "00" "1144" "0" "1144" "0" "c.*718G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018678" "00003109" "00" "967" "0" "967" "0" "c.*541G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018679" "00003109" "00" "926" "0" "926" "0" "c.*500G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018680" "00003109" "00" "897" "0" "897" "0" "c.*471G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018681" "00003109" "00" "892" "0" "892" "0" "c.*466G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018682" "00003109" "00" "863" "0" "863" "0" "c.*437C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018683" "00003109" "00" "863" "0" "863" "0" "c.*437C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018684" "00003109" "00" "734" "0" "734" "0" "c.*308C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018685" "00003109" "00" "563" "0" "563" "0" "c.*137G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018686" "00003109" "00" "562" "0" "562" "0" "c.*136C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018687" "00003109" "00" "510" "0" "510" "0" "c.*84C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018688" "00003109" "00" "473" "0" "473" "0" "c.*47T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018689" "00003109" "00" "446" "0" "446" "0" "c.*20G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018690" "00003109" "00" "392" "0" "392" "0" "c.392A>C" "" "p.(Lys131Thr)" "r.(?)" "" "" "" "" "" "-" "0000018691" "00003109" "00" "391" "0" "391" "0" "c.391A>G" "" "p.(Lys131Glu)" "r.(?)" "" "" "" "" "" "-" "0000018692" "00003109" "00" "362" "0" "362" "0" "c.362T>A" "" "p.(Leu121Gln)" "r.(?)" "" "" "" "" "" "-" "0000018693" "00003109" "00" "324" "0" "324" "0" "c.324C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018694" "00003109" "00" "303" "0" "303" "0" "c.303G>A" "" "p.(Trp101*)" "r.(?)" "" "" "" "" "" "-" "0000018695" "00003109" "00" "225" "0" "226" "0" "c.225_226delinsTGGAGGAACAGT" "" "p.(Gln75Hisfs*19)" "r.(?)" "" "" "" "" "" "-" "0000018696" "00003109" "00" "216" "0" "216" "0" "c.216G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018697" "00003109" "00" "215" "0" "215" "0" "c.215C>T" "" "p.(Pro72Leu)" "r.(?)" "" "" "" "" "" "-" "0000018698" "00003109" "00" "205" "0" "205" "0" "c.205C>T" "" "p.(Gln69*)" "r.(?)" "" "" "" "" "" "-" "0000018699" "00003109" "00" "171" "0" "181" "0" "c.171_181del" "" "p.(Gly58Argfs*10)" "r.(?)" "" "" "" "" "" "-" "0000018700" "00003109" "00" "172" "0" "172" "0" "c.172G>A" "" "p.(Gly58Arg)" "r.(?)" "" "" "" "" "" "-" "0000018701" "00003109" "00" "164" "0" "166" "0" "c.164_166del" "" "p.(Gly55del)" "r.(?)" "" "" "" "" "" "-" "0000018702" "00003109" "00" "161" "-2" "161" "-2" "c.161-2del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018703" "00003109" "00" "154" "0" "154" "0" "c.154G>C" "" "p.(Ala52Pro)" "r.(?)" "" "" "" "" "" "-" "0000018704" "00003109" "00" "124" "0" "124" "0" "c.124G>A" "" "p.(Gly42Arg)" "r.(?)" "" "" "" "" "" "-" "0000018705" "00003109" "00" "80" "0" "80" "0" "c.80A>T" "" "p.(His27Leu)" "r.(?)" "" "" "" "" "" "-" "0000018706" "00003109" "00" "69" "0" "69" "0" "c.69G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018707" "00003109" "00" "68" "0" "68" "0" "c.68C>T" "" "p.(Ala23Val)" "r.(?)" "" "" "" "" "" "-" "0000018708" "00003109" "00" "-2" "0" "-2" "0" "c.-2C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018709" "00003109" "00" "-10" "-12" "-10" "-12" "c.-10-12T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018710" "00003109" "00" "-11" "181" "-11" "181" "c.-11+181T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018711" "00003109" "00" "-11" "163" "-11" "163" "c.-11+163G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018712" "00003109" "00" "-11" "149" "-11" "149" "c.-11+149G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018713" "00003109" "00" "-11" "131" "-11" "131" "c.-11+131C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018714" "00003109" "00" "-11" "124" "-11" "124" "c.-11+124G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018715" "00003109" "00" "-11" "120" "-11" "120" "c.-11+120T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025538" "00003109" "00" "172" "0" "172" "0" "c.172G>A" "" "p.(Gly58Arg)" "r.(?)" "" "" "" "" "" "-" "0000025539" "00003109" "00" "161" "0" "161" "0" "c.161G>A" "" "p.(Gly54Glu)" "r.(?)" "" "" "" "" "" "-" "0000025540" "00003109" "00" "46" "0" "46" "0" "c.46T>C" "" "p.(Ser16Pro)" "r.(?)" "" "" "" "" "" "-" "0000025541" "00003109" "00" "-10" "0" "-10" "0" "c.-10G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0