### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC25A4) # 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}}" "SLC25A4" "solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4" "4" "q35" "unknown" "NC_000004.11" "UD_132048704566" "" "" "" "1" "1" "10990" "291" "103220" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:50:45" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## 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}}" "00000302" "SLC25A4" "solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4" "001" "NM_001151.3" "" "NP_001142.2" "" "" "" "-110" "4310" "897" "186064417" "186071538" "00001" "2013-11-07 13:59:42" "" "" "" "4" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00028" "MTDPS12" "Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 (3)" "615418" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" "00047" "609283" "Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283 (3)" "609283" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" "00527" "617184" "Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 (3)" "617184" "" "" "" "00001" "2018-06-25 16:00:00" "00001" "2018-06-25 16:00:00" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SLC25A4" "00028" "SLC25A4" "00047" "SLC25A4" "00527" ## 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 = 66 "{{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}}" "0000001003" "0" "99" "4" "186064638" "186064638" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-03 13:47:06" "SLC25A4_000005" "g.186064638G>A" "" "{PMID:22187496:22187496}" "" "rs398122942" "subst" "0" "; clinvar;" "4.270" "" "" "" "" "MSCV_0001003" "" "0000001004" "0" "99" "4" "186066099" "186066099" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 03:52:59" "SLC25A4_000006" "g.186066099T>C" "" "{PMID:11756613:11756613}" "" "rs104893876" "subst" "0" "; clinVar; Ensembl;" "5.370" "" "" "" "" "MSCV_0001004" "" "0000001005" "0" "99" "4" "186066117" "186066117" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:58:41" "SLC25A4_000001" "g.186066117A>G" "" "{PMID:12112115:12112115}" "" "rs28999114" "subst" "0" "; clinVar; Ensembl;" "5.500" "" "" "" "" "MSCV_0001005" "" "0000001006" "0" "99" "4" "186066146" "186066146" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-07-02 06:42:13" "SLC25A4_000002" "g.186066146G>C" "" "{PMID:8644740:8644740};{PMID:10926541:10926541};{PMID:10364542:10364542}" "" "rs104893873" "subst" "0" "; clinVar; Ensembl;" "5.500" "" "" "" "" "MSCV_0001006" "" "0000001007" "0" "99" "4" "186066174" "186066174" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 03:52:59" "SLC25A4_000003" "g.186066174C>A" "" "{PMID:16155110:16155110}" "" "rs121912683" "subst" "0" "; clinVar; Ensembl;" "5.500" "" "" "" "" "MSCV_0001007" "" "0000001008" "0" "99" "4" "186068093" "186068093" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-05-01 09:04:08" "SLC25A4_000004" "g.186068093G>A" "" "{PMID:10926541:10926541}" "" "rs104893874" "subst" "0" "; clinVar; Ensembl;" "5.320" "" "" "" "" "MSCV_0001008" "" "0000020748" "0" "11" "4" "186064419" "186064419" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:38" "SLC25A4_000021" "g.186064419C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020748" "" "0000020749" "0" "33" "4" "186064424" "186064424" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:39" "SLC25A4_000022" "g.186064424C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020749" "" "0000020750" "0" "11" "4" "186064443" "186064443" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:41" "SLC25A4_000023" "g.186064443C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020750" "" "0000020751" "0" "55" "4" "186064481" "186064481" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-07 06:13:48" "SLC25A4_000024" "g.186064481G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020751" "" "0000020752" "0" "99" "4" "186064638" "186064638" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:44" "SLC25A4_000005" "g.186064638G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001003" "" "0000020753" "0" "99" "4" "186065922" "186065943" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:45" "SLC25A4_000025" "g.186065922_186065943del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020753" "" "0000020754" "0" "99" "4" "186066045" "186066045" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:46" "SLC25A4_000026" "g.186066045G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020754" "" "0000020755" "0" "55" "4" "186066049" "186066049" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:48" "SLC25A4_000027" "g.186066049C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020755" "" "0000020756" "0" "99" "4" "186066099" "186066099" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:49" "SLC25A4_000006" "g.186066099T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001004" "" "0000020757" "0" "99" "4" "186066117" "186066117" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:51" "SLC25A4_000001" "g.186066117A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001005" "" "0000020758" "0" "99" "4" "186066146" "186066146" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:52" "SLC25A4_000002" "g.186066146G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001006" "" "0000020759" "0" "77" "4" "186066174" "186066174" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-01-17 21:22:14" "SLC25A4_000003" "g.186066174C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001007" "" "0000020760" "0" "99" "4" "186067017" "186067017" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:54" "SLC25A4_000028" "g.186067017C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020760" "" "0000020761" "0" "99" "4" "186067021" "186067021" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:55" "SLC25A4_000029" "g.186067021G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020761" "" "0000020762" "0" "55" "4" "186067046" "186067046" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:56" "SLC25A4_000030" "g.186067046G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020762" "" "0000020763" "0" "55" "4" "186068021" "186068021" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:58" "SLC25A4_000031" "g.186068021G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020763" "" "0000020764" "0" "99" "4" "186068093" "186068093" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:59" "SLC25A4_000004" "g.186068093G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001008" "" "0000020765" "0" "11" "4" "186068298" "186068299" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:00" "SLC25A4_000032" "g.186068298_186068299del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020765" "" "0000020766" "0" "00" "4" "186068383" "186068385" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:01" "SLC25A4_000033" "g.186068383_186068385del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020766" "" "0000020767" "0" "00" "4" "186068448" "186068450" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 03:52:59" "SLC25A4_000034" "g.186068448_186068450del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020767" "" "0000020768" "0" "55" "4" "186068549" "186068549" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:04" "SLC25A4_000035" "g.186068549A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020768" "" "0000020769" "0" "33" "4" "186068606" "186068606" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:05" "SLC25A4_000036" "g.186068606G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020769" "" "0000020770" "0" "00" "4" "186068617" "186068618" "ins" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 03:52:59" "SLC25A4_000037" "g.186068617_186068618insTCTA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020770" "" "0000020771" "0" "33" "4" "186068622" "186068622" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:08" "SLC25A4_000038" "g.186068622T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020771" "" "0000020772" "0" "11" "4" "186068637" "186068637" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:17:09" "SLC25A4_000039" "g.186068637A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020772" "" "0000020773" "0" "33" "4" "186068796" "186068796" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:44:21" "SLC25A4_000055" "g.186068796A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020773" "" "0000020774" "0" "55" "4" "186068949" "186068949" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:21" "SLC25A4_000040" "g.186068949C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020774" "" "0000020775" "0" "11" "4" "186068998" "186068998" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:23" "SLC25A4_000041" "g.186068998G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020775" "" "0000020776" "0" "33" "4" "186069082" "186069082" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-06-12 09:45:13" "SLC25A4_000042" "g.186069082T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020776" "" "0000020777" "0" "00" "4" "186069135" "186069138" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:27" "SLC25A4_000043" "g.186069135_186069138del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020777" "" "0000020778" "0" "11" "4" "186069178" "186069178" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:28" "SLC25A4_000044" "g.186069178T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020778" "" "0000020779" "0" "33" "4" "186069271" "186069271" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:31" "SLC25A4_000045" "g.186069271T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020779" "" "0000020780" "0" "55" "4" "186069288" "186069288" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:32" "SLC25A4_000046" "g.186069288G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020780" "" "0000020781" "0" "33" "4" "186069370" "186069370" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:34" "SLC25A4_000047" "g.186069370T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020781" "" "0000020782" "0" "55" "4" "186069503" "186069503" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:42" "SLC25A4_000048" "g.186069503A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020782" "" "0000020783" "0" "11" "4" "186069917" "186069917" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:44" "SLC25A4_000049" "g.186069917C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020783" "" "0000020784" "0" "11" "4" "186070110" "186070110" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 03:52:59" "SLC25A4_000050" "g.186070110T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020784" "" "0000020785" "0" "00" "4" "186070162" "186070162" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:47" "SLC25A4_000051" "g.186070162del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020785" "" "0000020786" "0" "33" "4" "186070175" "186070175" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:49" "SLC25A4_000052" "g.186070175A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020786" "" "0000020787" "0" "11" "4" "186070432" "186070432" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:51" "SLC25A4_000007" "g.186070432T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020787" "" "0000020788" "0" "55" "4" "186070475" "186070475" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:53" "SLC25A4_000053" "g.186070475G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020788" "" "0000020789" "0" "00" "4" "186070560" "186070561" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:54" "SLC25A4_000054" "g.186070560_186070561del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020789" "" "0000020790" "0" "33" "4" "186070591" "186070591" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:47:27" "SLC25A4_000008" "g.186070591C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020790" "" "0000020791" "0" "33" "4" "186070601" "186070601" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-04 23:00:05" "SLC25A4_000009" "g.186070601G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020791" "" "0000020792" "0" "33" "4" "186070654" "186070654" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:47:29" "SLC25A4_000010" "g.186070654C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020792" "" "0000020793" "0" "33" "4" "186070717" "186070717" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:47:31" "SLC25A4_000011" "g.186070717C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020793" "" "0000020794" "0" "55" "4" "186070838" "186070838" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:47:32" "SLC25A4_000012" "g.186070838G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020794" "" "0000020795" "0" "33" "4" "186070845" "186070845" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:47:33" "SLC25A4_000013" "g.186070845G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020795" "" "0000020796" "0" "55" "4" "186070907" "186070907" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-07 06:13:49" "SLC25A4_000014" "g.186070907G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020796" "" "0000020797" "0" "55" "4" "186070949" "186070949" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:47:35" "SLC25A4_000015" "g.186070949G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020797" "" "0000020798" "0" "11" "4" "186071068" "186071068" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:47:36" "SLC25A4_000016" "g.186071068G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020798" "" "0000020799" "0" "33" "4" "186071195" "186071195" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:47:37" "SLC25A4_000017" "g.186071195C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020799" "" "0000020800" "0" "33" "4" "186071239" "186071239" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-07 06:13:49" "SLC25A4_000018" "g.186071239C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020800" "" "0000020801" "0" "33" "4" "186071401" "186071401" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:47:40" "SLC25A4_000019" "g.186071401C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020801" "" "0000020802" "0" "55" "4" "186071402" "186071402" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:47:41" "SLC25A4_000020" "g.186071402G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020802" "" "0000026248" "0" "00" "4" "186064502" "186064502" "subst" "35" "0.0344958" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:24:07" "SLC25A4_000057" "g.186064502G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026249" "0" "00" "4" "186066321" "186066321" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:24:13" "SLC25A4_000058" "g.186066321G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026250" "0" "00" "4" "186066373" "186066373" "subst" "35" "0.00784253" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:24:18" "SLC25A4_000059" "g.186066373T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026251" "0" "00" "4" "186066995" "186066995" "subst" "35" "0.00945717" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:24:24" "SLC25A4_000060" "g.186066995G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026252" "0" "00" "4" "186067984" "186067984" "subst" "35" "0.000153775" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:49:26" "SLC25A4_000056" "g.186067984G>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 = 66 "{{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}}" "0000001003" "00000302" "99" "111" "1" "111" "1" "c.111+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000001004" "00000302" "99" "293" "0" "293" "0" "c.293T>C" "2/4" "p.(Leu98Pro)" "r.(?)" "possibly_damaging(0.489)" "" "missense_variant" "" "" "deleterious(0)" "0000001005" "00000302" "99" "311" "0" "311" "0" "c.311A>G" "2/4" "p.(Asp104Gly)" "r.(?)" "probably_damaging(0.966)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001006" "00000302" "99" "340" "0" "340" "0" "c.340G>C" "2/4" "p.(Ala114Pro)" "r.(?)" "possibly_damaging(0.653)" "" "missense_variant" "" "" "tolerated(0.06)" "0000001007" "00000302" "99" "368" "0" "368" "0" "c.368C>A" "2/4" "p.(Ala123Asp)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001008" "00000302" "99" "865" "0" "865" "0" "c.865G>A" "4/4" "p.(Val289Met)" "r.(?)" "possibly_damaging(0.775)" "" "missense_variant" "" "" "deleterious(0.01)" "0000020748" "00000302" "00" "-108" "0" "-108" "0" "c.-108C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020749" "00000302" "00" "-103" "0" "-103" "0" "c.-103C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020750" "00000302" "00" "-84" "0" "-84" "0" "c.-84C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020751" "00000302" "00" "-46" "0" "-46" "0" "c.-46G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020752" "00000302" "00" "111" "1" "111" "1" "c.111+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020753" "00000302" "00" "116" "0" "137" "0" "c.116_137del" "" "p.(Gln39Leufs*14)" "r.(?)" "" "" "" "" "" "-" "0000020754" "00000302" "00" "239" "0" "239" "0" "c.239G>A" "" "p.(Arg80His)" "r.(?)" "" "" "" "" "" "-" "0000020755" "00000302" "00" "243" "0" "243" "0" "c.243C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020756" "00000302" "00" "293" "0" "293" "0" "c.293T>C" "" "p.(Leu98Pro)" "r.(?)" "" "" "" "" "" "-" "0000020757" "00000302" "00" "311" "0" "311" "0" "c.311A>G" "" "p.(Asp104Gly)" "r.(?)" "" "" "" "" "" "-" "0000020758" "00000302" "00" "340" "0" "340" "0" "c.340G>C" "" "p.(Ala114Pro)" "r.(?)" "" "" "" "" "" "-" "0000020759" "00000302" "00" "368" "0" "368" "0" "c.368C>A" "" "p.(Ala123Asp)" "r.(?)" "" "" "" "" "" "-" "0000020760" "00000302" "00" "703" "0" "703" "0" "c.703C>G" "" "p.(Arg235Gly)" "r.(?)" "" "" "" "" "" "-" "0000020761" "00000302" "00" "707" "0" "707" "0" "c.707G>C" "" "p.(Arg236Pro)" "r.(?)" "" "" "" "" "" "-" "0000020762" "00000302" "00" "732" "0" "732" "0" "c.732G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020763" "00000302" "00" "793" "0" "793" "0" "c.793G>A" "" "p.(Glu265Lys)" "r.(?)" "" "" "" "" "" "-" "0000020764" "00000302" "00" "865" "0" "865" "0" "c.865G>A" "" "p.(Val289Met)" "r.(?)" "" "" "" "" "" "-" "0000020765" "00000302" "00" "1070" "0" "1071" "0" "c.*173_*174del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020766" "00000302" "00" "1155" "0" "1157" "0" "c.*258_*260del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020767" "00000302" "00" "1220" "0" "1222" "0" "c.*323_*325del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020768" "00000302" "00" "1321" "0" "1321" "0" "c.*424A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020769" "00000302" "00" "1378" "0" "1378" "0" "c.*481G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020770" "00000302" "00" "1389" "0" "1390" "0" "c.*492_*493insTCTA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020771" "00000302" "00" "1394" "0" "1394" "0" "c.*497T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020772" "00000302" "00" "1409" "0" "1409" "0" "c.*512A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020773" "00000302" "00" "1568" "0" "1568" "0" "c.*671A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020774" "00000302" "00" "1721" "0" "1721" "0" "c.*824C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020775" "00000302" "00" "1770" "0" "1770" "0" "c.*873G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020776" "00000302" "00" "1854" "0" "1854" "0" "c.*957T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020777" "00000302" "00" "1907" "0" "1910" "0" "c.*1010_*1013del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020778" "00000302" "00" "1950" "0" "1950" "0" "c.*1053T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020779" "00000302" "00" "2043" "0" "2043" "0" "c.*1146T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020780" "00000302" "00" "2060" "0" "2060" "0" "c.*1163G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020781" "00000302" "00" "2142" "0" "2142" "0" "c.*1245T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020782" "00000302" "00" "2275" "0" "2275" "0" "c.*1378A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020783" "00000302" "00" "2689" "0" "2689" "0" "c.*1792C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020784" "00000302" "00" "2882" "0" "2882" "0" "c.*1985T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020785" "00000302" "00" "2934" "0" "2934" "0" "c.*2037del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020786" "00000302" "00" "2947" "0" "2947" "0" "c.*2050A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020787" "00000302" "00" "3204" "0" "3204" "0" "c.*2307T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020788" "00000302" "00" "3247" "0" "3247" "0" "c.*2350G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020789" "00000302" "00" "3332" "0" "3333" "0" "c.*2435_*2436del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020790" "00000302" "00" "3363" "0" "3363" "0" "c.*2466C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020791" "00000302" "00" "3373" "0" "3373" "0" "c.*2476G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020792" "00000302" "00" "3426" "0" "3426" "0" "c.*2529C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020793" "00000302" "00" "3489" "0" "3489" "0" "c.*2592C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020794" "00000302" "00" "3610" "0" "3610" "0" "c.*2713G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020795" "00000302" "00" "3617" "0" "3617" "0" "c.*2720G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020796" "00000302" "00" "3679" "0" "3679" "0" "c.*2782G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020797" "00000302" "00" "3721" "0" "3721" "0" "c.*2824G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020798" "00000302" "00" "3840" "0" "3840" "0" "c.*2943G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020799" "00000302" "00" "3967" "0" "3967" "0" "c.*3070C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020800" "00000302" "00" "4011" "0" "4011" "0" "c.*3114C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020801" "00000302" "00" "4173" "0" "4173" "0" "c.*3276C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020802" "00000302" "00" "4174" "0" "4174" "0" "c.*3277G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026248" "00000302" "00" "-25" "0" "-25" "0" "c.-25G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026249" "00000302" "00" "515" "0" "515" "0" "c.515G>T" "" "p.(Gly172Val)" "r.(?)" "" "" "" "" "" "-" "0000026250" "00000302" "00" "567" "0" "567" "0" "c.567T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026251" "00000302" "00" "681" "0" "681" "0" "c.681G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026252" "00000302" "00" "756" "0" "756" "0" "c.756G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0