### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC25A15) # 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}}" "SLC25A15" "solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15" "13" "q14" "unknown" "NC_000013.10" "UD_138431498780" "" "" "" "1" "1" "10985" "10166" "603861" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:46:20" "" "" "" "" "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 = 2 "{{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}}" "00001152" "SLC25A15" "solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15" "001" "NM_014252.3" "" "NP_055067.1" "" "" "" "-322" "3699" "906" "41363547" "41386596" "00001" "2013-11-12 21:56:35" "" "" "" "13" "00001153" "SLC25A15" "transcript variant X1" "002" "XM_005266210.1" "" "XP_005266267.1" "" "" "" "-293" "3665" "867" "41372794" "41386601" "00001" "2013-11-12 21:56:35" "" "" "" "13" ## 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}}" "00106" "238970" "Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)" "238970" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC25A15" "00106" ## 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 = 99 "{{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}}" "0000000506" "0" "99" "13" "41367406" "41367406" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 00:08:16" "SLC25A15_000020" "g.41367406C>A" "" "{PMID:22649802:22649802}" "" "rs202247806" "subst" "0" "; clinVar; Ensembl;" "5.190" "" "" "" "" "MSCV_0000506" "" "0000000507" "0" "99" "13" "41373216" "41373216" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 00:08:10" "SLC25A15_000018" "g.41373216G>A" "" "{PMID:11552031:11552031};{PMID:22649802:22649802}" "" "rs104894430" "subst" "0" "; clinVar; Ensembl;" "4.400" "" "" "" "" "MSCV_0000507" "" "0000000508" "0" "99" "13" "41373232" "41373232" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 00:05:05" "SLC25A15_000019" "g.41373232C>G" "" "{PMID:22649802:22649802};{PMID:16940241:16940241}" "" "rs121908536" "subst" "0" "; clinVar; Ensembl;" "3.690" "" "" "" "" "MSCV_0000508" "" "0000000509" "0" "99" "13" "41373247" "41373247" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-09 23:54:27" "SLC25A15_000016" "g.41373247T>G" "" "{PMID:19242930:19242930};{PMID:22649802:22649802}" "" "rs121908533" "subst" "0" "; clinVar; Ensembl;" "4.540" "" "" "" "" "MSCV_0000509" "" "0000000510" "0" "99" "13" "41373349" "41373349" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 00:03:55" "SLC25A15_000017" "g.41373349T>A" "" "{PMID:19242930:19242930};{PMID:22649802:22649802}" "" "rs121908534" "subst" "0" "; clinVar; Ensembl;" "4.680" "" "" "" "" "MSCV_0000510" "" "0000000511" "0" "99" "13" "41379276" "41379276" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-09 23:57:41" "SLC25A15_000014" "g.41379276G>A" "" "{PMID:22649802:22649802}" "" "rs199894905" "subst" "0" "; clinVar; Ensembl;" "4.780" "" "" "" "" "MSCV_0000511" "" "0000000512" "0" "99" "13" "41379276" "41379276" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 16:57:24" "SLC25A15_000015" "g.41379276G>T" "" "{PMID:22649802:22649802}" "" "rs199894905" "subst" "0" "; clinVar; Ensembl;" "4.780" "" "" "" "" "MSCV_0000512" "" "0000000514" "0" "99" "13" "41381512" "41381512" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 00:17:44" "SLC25A15_000001" "g.41381512C>T" "" "{PMID:19242930:19242930};{PMID:22649802:22649802};{PMID:11355015:11355015};{PMID:3407856:3407856}" "" "rs104894429" "subst" "0" "; clinVar; Ensembl;" "4.320" "" "" "" "" "MSCV_0000514" "" "0000000515" "0" "99" "13" "41381515" "41381515" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 16:57:24" "SLC25A15_000002" "g.41381515G>A" "" "{PMID:10369256:10369256};{PMID:22649802:22649802}" "" "rs104894424" "subst" "0" "; clinVar; Ensembl;" "5.220" "" "" "" "" "MSCV_0000515" "" "0000000516" "0" "77" "13" "41381530" "41381532" "del" "35" "0.000079885" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 00:09:14" "SLC25A15_000003" "g.41381530_41381532del" "" "{PMID:10369256:10369256};{PMID:22649802:22649802}" "" "rs202247803" "del" "0" "; clinVar; Ensembl;" "" "" "" "" "" "MSCV_0000516" "" "0000000517" "0" "99" "13" "41381539" "41381541" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 00:12:01" "SLC25A15_000004" "g.41381539_41381541del" "" "" "" "" "del" "0" ";" "" "" "" "" "" "MSCV_0000517" "" "0000000518" "0" "99" "13" "41381541" "41381541" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 00:00:27" "SLC25A15_000005" "g.41381541C>G" "" "{PMID:22649802:22649802}" "" "rs141028076" "subst" "0" "; clinVar; Ensembl;" "-10.400" "" "" "" "" "MSCV_0000518" "" "0000000519" "0" "99" "13" "41381541" "41381541" "subst" "35" "0.00130709" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-06-25 13:19:41" "SLC25A15_000006" "g.41381541C>T" "" "{PMID:22649802:22649802}" "" "rs141028076" "subst" "0" "; clinVar; Ensembl;" "-10.400" "" "" "" "" "MSCV_0000519" "" "0000000520" "0" "99" "13" "41381546" "41381546" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-09 23:52:29" "SLC25A15_000007" "g.41381546G>A" "" "{PMID:22649802:22649802}" "" "rs202247804" "subst" "0" "; clinVar; Ensembl;" "5.360" "" "" "" "" "MSCV_0000520" "" "0000000521" "0" "99" "13" "41382609" "41382609" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 00:01:30" "SLC25A15_000008" "g.41382609G>A" "" "{PMID:22649802:22649802}" "" "rs202247805" "subst" "0" "; clinVar; Ensembl;" "5.190" "" "" "" "" "MSCV_0000521" "" "0000000522" "0" "99" "13" "41383712" "41383712" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 00:15:51" "SLC25A15_000009" "g.41383712C>T" "" "{PMID:19242930:19242930};{PMID:22649802:22649802}" "" "rs121908535" "subst" "0" "; clinVar; Ensembl;" "5.070" "" "" "" "" "MSCV_0000522" "" "0000000523" "0" "99" "13" "41383715" "41383715" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 00:17:33" "SLC25A15_000010" "g.41383715T>A" "" "{PMID:22649802:22649802}" "" "rs202247808" "subst" "0" "; clinVar; Ensembl;" "5.070" "" "" "" "" "MSCV_0000523" "" "0000000524" "0" "99" "13" "41383720" "41383720" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 00:09:37" "SLC25A15_000011" "g.41383720C>T" "" "{PMID:22649802:22649802}" "" "rs202247807" "subst" "0" "; clinVar; Ensembl;" "5.070" "" "" "" "" "MSCV_0000524" "" "0000000525" "0" "99" "13" "41383721" "41383721" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-09 23:51:18" "SLC25A15_000012" "g.41383721G>A" "" "{PMID:11552031:11552031};{PMID:22649802:22649802}" "" "rs104894431" "subst" "0" "; clinVar; Ensembl;" "5.070" "" "" "" "" "MSCV_0000525" "" "0000000526" "0" "99" "13" "41383744" "41383744" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 00:04:33" "SLC25A15_000013" "g.41383744C>T" "" "{PMID:22649802:22649802}" "" "rs202247809" "subst" "0" "; clinVar; Ensembl;" "4.210" "" "" "" "" "MSCV_0000526" "" "0000005243" "0" "99" "13" "41381539" "41381541" "del" "35" "0" "00000" "9" "00001" "2015-03-12 18:41:14" "00000" "2019-04-09 23:51:29" "SLC25A15_000004" "g.41381539_41381541del" "" "{PMID:10369256:10369256};{PMID:22649802:22649802}" "" "rs202247803" "del" "0" "; ensembl;" "" "" "" "" "" "MSCV_0005243" "" "0000017198" "0" "55" "13" "41363549" "41363549" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:17:12" "SLC25A15_000065" "g.41363549G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017198" "" "0000017199" "0" "55" "13" "41363565" "41363565" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-09 23:59:00" "SLC25A15_000066" "g.41363565C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017199" "" "0000017200" "0" "11" "13" "41363595" "41363595" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:16:17" "SLC25A15_000067" "g.41363595T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017200" "" "0000017201" "0" "55" "13" "41363596" "41363596" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-09 19:45:09" "SLC25A15_000068" "g.41363596C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017201" "" "0000017202" "0" "33" "13" "41363610" "41363610" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-09 23:51:55" "SLC25A15_000069" "g.41363610G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017202" "" "0000017203" "0" "55" "13" "41363624" "41363624" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:07:04" "SLC25A15_000070" "g.41363624C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017203" "" "0000017204" "0" "55" "13" "41363702" "41363702" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-12 16:31:05" "SLC25A15_000071" "g.41363702G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017204" "" "0000017205" "0" "55" "13" "41363768" "41363768" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:01:35" "SLC25A15_000072" "g.41363768C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017205" "" "0000017206" "0" "77" "13" "41367296" "41367296" "subst" "35" "0.0065703" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-09 23:59:52" "SLC25A15_000073" "g.41367296A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017206" "" "0000017207" "0" "55" "13" "41367322" "41367322" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:03:28" "SLC25A15_000074" "g.41367322G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017207" "" "0000017208" "0" "99" "13" "41367406" "41367406" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:04:38" "SLC25A15_000020" "g.41367406C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000506" "" "0000017209" "0" "99" "13" "41373216" "41373216" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:02:33" "SLC25A15_000018" "g.41373216G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000507" "" "0000017210" "0" "99" "13" "41373232" "41373232" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:03:24" "SLC25A15_000019" "g.41373232C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000508" "" "0000017211" "0" "99" "13" "41373247" "41373247" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:04:22" "SLC25A15_000016" "g.41373247T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000509" "" "0000017212" "0" "33" "13" "41373254" "41373254" "subst" "35" "0.0915731" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:02:56" "SLC25A15_000075" "g.41373254G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017212" "" "0000017213" "0" "77" "13" "41373319" "41373319" "subst" "35" "0.00407504" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:12:26" "SLC25A15_000076" "g.41373319G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017213" "" "0000017214" "0" "99" "13" "41373349" "41373349" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-24 02:27:04" "SLC25A15_000017" "g.41373349T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000510" "" "0000017215" "0" "77" "13" "41373362" "41373362" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-09 23:50:57" "SLC25A15_000077" "g.41373362C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017215" "" "0000017216" "0" "55" "13" "41373415" "41373415" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:05:28" "SLC25A15_000078" "g.41373415G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017216" "" "0000017217" "0" "33" "13" "41379272" "41379272" "subst" "35" "0.125173" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-29 08:21:50" "SLC25A15_000079" "g.41379272C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017217" "" "0000017218" "0" "99" "13" "41379276" "41379276" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:05:40" "SLC25A15_000015" "g.41379276G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000512" "" "0000017219" "0" "55" "13" "41379282" "41379282" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:01:07" "SLC25A15_000062" "g.41379282T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017219" "" "0000017220" "0" "55" "13" "41379284" "41379284" "subst" "35" "0.000384438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:10:00" "SLC25A15_000063" "g.41379284C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017220" "" "0000017221" "0" "99" "13" "41381512" "41381512" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:10:11" "SLC25A15_000001" "g.41381512C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000514" "" "0000017222" "0" "99" "13" "41381515" "41381515" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:13:15" "SLC25A15_000002" "g.41381515G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000515" "" "0000017223" "0" "55" "13" "41381529" "41381529" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:12:12" "SLC25A15_000064" "g.41381529T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017223" "" "0000017224" "0" "00" "13" "41381530" "41381532" "del" "35" "0.000079885" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:18:29" "SLC25A15_000003" "g.41381530_41381532del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000516" "" "0000017225" "0" "99" "13" "41381541" "41381541" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-09 23:52:08" "SLC25A15_000005" "g.41381541C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000518" "" "0000017226" "0" "55" "13" "41381542" "41381542" "subst" "35" "0.000461326" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-09 23:57:58" "SLC25A15_000021" "g.41381542G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017226" "" "0000017227" "0" "99" "13" "41381546" "41381546" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:19:12" "SLC25A15_000007" "g.41381546G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000520" "" "0000017228" "0" "55" "13" "41382583" "41382583" "subst" "35" "0.000384438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-01-15 23:04:54" "SLC25A15_000024" "g.41382583C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017228" "" "0000017229" "0" "99" "13" "41382609" "41382609" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:02:22" "SLC25A15_000008" "g.41382609G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000521" "" "0000017230" "0" "11" "13" "41382711" "41382711" "subst" "35" "0.342227" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-09 23:51:39" "SLC25A15_000027" "g.41382711A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017230" "" "0000017231" "0" "33" "13" "41383686" "41383686" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:06:57" "SLC25A15_000029" "g.41383686G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017231" "" "0000017232" "0" "99" "13" "41383712" "41383712" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:14:49" "SLC25A15_000009" "g.41383712C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000522" "" "0000017233" "0" "99" "13" "41383715" "41383715" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 16:57:24" "SLC25A15_000010" "g.41383715T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000523" "" "0000017234" "0" "99" "13" "41383720" "41383720" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:18:10" "SLC25A15_000011" "g.41383720C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000524" "" "0000017235" "0" "99" "13" "41383721" "41383721" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:13:03" "SLC25A15_000012" "g.41383721G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000525" "" "0000017236" "0" "99" "13" "41383744" "41383744" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-01-15 18:25:23" "SLC25A15_000013" "g.41383744C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000526" "" "0000017237" "0" "33" "13" "41383851" "41383851" "subst" "35" "0.0310626" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:11:34" "SLC25A15_000036" "g.41383851T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017237" "" "0000017238" "0" "55" "13" "41383861" "41383861" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:12:51" "SLC25A15_000038" "g.41383861G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017238" "" "0000017239" "0" "33" "13" "41383962" "41383962" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-09 23:59:22" "SLC25A15_000040" "g.41383962C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017239" "" "0000017240" "0" "55" "13" "41384020" "41384020" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:06:33" "SLC25A15_000042" "g.41384020G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017240" "" "0000017241" "0" "11" "13" "41384156" "41384156" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:11:03" "SLC25A15_000044" "g.41384156A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017241" "" "0000017242" "0" "33" "13" "41384223" "41384223" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:00:43" "SLC25A15_000046" "g.41384223T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017242" "" "0000017243" "0" "11" "13" "41384318" "41384318" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:06:02" "SLC25A15_000048" "g.41384318A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017243" "" "0000017244" "0" "11" "13" "41384382" "41384382" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:13:48" "SLC25A15_000050" "g.41384382C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017244" "" "0000017245" "0" "33" "13" "41384413" "41384413" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-09 23:52:19" "SLC25A15_000052" "g.41384413G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017245" "" "0000017246" "0" "55" "13" "41384442" "41384442" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-16 17:00:51" "SLC25A15_000054" "g.41384442G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017246" "" "0000017247" "0" "55" "13" "41384443" "41384443" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-09 19:45:04" "SLC25A15_000056" "g.41384443C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017247" "" "0000017248" "0" "33" "13" "41384487" "41384487" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:13:37" "SLC25A15_000059" "g.41384487C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017248" "" "0000017249" "0" "55" "13" "41384674" "41384674" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 16:57:24" "SLC25A15_000061" "g.41384674T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017249" "" "0000017250" "0" "33" "13" "41384701" "41384701" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 16:57:24" "SLC25A15_000022" "g.41384701C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017250" "" "0000017251" "0" "33" "13" "41384732" "41384732" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:16:45" "SLC25A15_000023" "g.41384732G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017251" "" "0000017252" "0" "55" "13" "41385122" "41385122" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:15:29" "SLC25A15_000025" "g.41385122G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017252" "" "0000017253" "0" "55" "13" "41385148" "41385148" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:10:40" "SLC25A15_000026" "g.41385148G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017253" "" "0000017254" "0" "55" "13" "41385288" "41385288" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:00:54" "SLC25A15_000028" "g.41385288T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017254" "" "0000017255" "0" "33" "13" "41385297" "41385297" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:14:11" "SLC25A15_000030" "g.41385297A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017255" "" "0000017256" "0" "55" "13" "41385398" "41385398" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 16:57:24" "SLC25A15_000031" "g.41385398G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017256" "" "0000017257" "0" "33" "13" "41385429" "41385429" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:17:56" "SLC25A15_000032" "g.41385429A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017257" "" "0000017258" "0" "33" "13" "41385444" "41385444" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-27 20:26:35" "SLC25A15_000033" "g.41385444G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017258" "" "0000017259" "0" "55" "13" "41385485" "41385485" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:00:05" "SLC25A15_000034" "g.41385485C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017259" "" "0000017260" "0" "55" "13" "41385524" "41385524" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:07:36" "SLC25A15_000035" "g.41385524C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017260" "" "0000017261" "0" "55" "13" "41385540" "41385540" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-07-16 03:26:42" "SLC25A15_000037" "g.41385540G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017261" "" "0000017262" "0" "00" "13" "41385632" "41385636" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:17:06" "SLC25A15_000039" "g.41385632_41385636del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017262" "" "0000017263" "0" "11" "13" "41385658" "41385658" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-09 23:58:20" "SLC25A15_000041" "g.41385658C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017263" "" "0000017264" "0" "33" "13" "41385748" "41385748" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:06:12" "SLC25A15_000043" "g.41385748G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017264" "" "0000017265" "0" "55" "13" "41385785" "41385785" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-09 23:52:40" "SLC25A15_000045" "g.41385785A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017265" "" "0000017266" "0" "55" "13" "41385874" "41385874" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:20:16" "SLC25A15_000047" "g.41385874C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017266" "" "0000017267" "0" "33" "13" "41385900" "41385900" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-28 06:49:54" "SLC25A15_000049" "g.41385900T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017267" "" "0000017268" "0" "55" "13" "41385908" "41385908" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-09 23:59:33" "SLC25A15_000051" "g.41385908A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017268" "" "0000017269" "0" "55" "13" "41385993" "41385993" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:09:25" "SLC25A15_000053" "g.41385993T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017269" "" "0000017270" "0" "55" "13" "41386067" "41386067" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-09 19:44:53" "SLC25A15_000055" "g.41386067C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017270" "" "0000017271" "0" "11" "13" "41386131" "41386131" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-06 14:32:45" "SLC25A15_000057" "g.41386131G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017271" "" "0000017272" "0" "55" "13" "41386176" "41386176" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-27 18:57:29" "SLC25A15_000058" "g.41386176T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017272" "" "0000017273" "0" "55" "13" "41386297" "41386297" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 00:03:44" "SLC25A15_000060" "g.41386297G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017273" "" "0000024777" "0" "00" "13" "41379319" "41379319" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:56:09" "SLC25A15_000080" "g.41379319C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024778" "0" "00" "13" "41379385" "41379385" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:56:29" "SLC25A15_000081" "g.41379385del" "" "" "" "" "" "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 = 186 "{{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}}" "0000000506" "00001152" "99" "44" "0" "44" "0" "c.44C>A" "2/7" "p.(Ala15Glu)" "r.(?)" "possibly_damaging(0.588)" "" "missense_variant" "" "" "deleterious(0)" "0000000507" "00001152" "99" "79" "0" "79" "0" "c.79G>A" "3/7" "p.(Gly27Arg)" "r.(?)" "possibly_damaging(0.879)" "" "missense_variant" "" "" "deleterious(0)" "0000000507" "00001153" "99" "40" "0" "40" "0" "c.40G>A" "2/6" "p.(Gly14Arg)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000508" "00001152" "99" "95" "0" "95" "0" "c.95C>G" "3/7" "p.(Thr32Arg)" "r.(?)" "probably_damaging(0.977)" "" "missense_variant" "" "" "deleterious(0)" "0000000508" "00001153" "99" "56" "0" "56" "0" "c.56C>G" "2/6" "p.(Thr19Arg)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000509" "00001152" "99" "110" "0" "110" "0" "c.110T>G" "3/7" "p.(Met37Arg)" "r.(?)" "probably_damaging(0.934)" "" "missense_variant" "" "" "deleterious(0)" "0000000509" "00001153" "99" "71" "0" "71" "0" "c.71T>G" "2/6" "p.(Met24Arg)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000510" "00001152" "99" "212" "0" "212" "0" "c.212T>A" "3/7" "p.(Leu71Gln)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000000510" "00001153" "99" "173" "0" "173" "0" "c.173T>A" "2/6" "p.(Leu58Gln)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000511" "00001152" "99" "337" "0" "337" "0" "c.337G>A" "4/7" "p.(Gly113Ser)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000511" "00001153" "99" "298" "0" "298" "0" "c.298G>A" "3/6" "p.(Gly100Ser)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000512" "00001152" "99" "337" "0" "337" "0" "c.337G>T" "4/7" "p.(Gly113Cys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000512" "00001153" "99" "298" "0" "298" "0" "c.298G>T" "3/6" "p.(Gly100Cys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000514" "00001152" "99" "535" "0" "535" "0" "c.535C>T" "5/7" "p.(Arg179*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000514" "00001153" "99" "496" "0" "496" "0" "c.496C>T" "4/6" "p.(Arg166*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000515" "00001152" "99" "538" "0" "538" "0" "c.538G>A" "5/7" "p.(Glu180Lys)" "r.(?)" "probably_damaging(0.964)" "" "missense_variant" "" "" "deleterious(0)" "0000000515" "00001153" "99" "499" "0" "499" "0" "c.499G>A" "4/6" "p.(Glu167Lys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000516" "00001152" "77" "553" "0" "555" "0" "c.553_555del" "" "p.(Phe188del)" "r.(?)" "" "" "" "" "" "-" "0000000516" "00001153" "77" "514" "0" "516" "0" "c.514_516del" "" "p.(Phe175del)" "r.(?)" "" "" "" "" "" "-" "0000000517" "00001152" "55" "562" "0" "564" "0" "c.562_564del" "" "p.(Phe188del)" "r.(?)" "" "" "" "" "" "-" "0000000517" "00001153" "00" "523" "0" "525" "0" "c.523_525del" "" "p.(Phe175del)" "r.(?)" "" "" "" "" "" "-" "0000000518" "00001152" "99" "564" "0" "564" "0" "c.564C>G" "5/7" "p.(Phe188Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000518" "00001153" "99" "525" "0" "525" "0" "c.525C>G" "4/6" "p.(Phe175Leu)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000519" "00001152" "99" "564" "0" "564" "0" "c.564C>T" "5/7" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000519" "00001153" "99" "525" "0" "525" "0" "c.525C>T" "4/6" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000520" "00001152" "99" "569" "0" "569" "0" "c.569G>A" "5/7" "p.(Gly190Asp)" "r.(?)" "probably_damaging(0.993)" "" "missense_variant" "" "" "deleterious(0)" "0000000520" "00001153" "99" "530" "0" "530" "0" "c.530G>A" "4/6" "p.(Gly177Asp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000521" "00001152" "99" "658" "0" "658" "0" "c.658G>A" "6/7" "p.(Gly220Arg)" "r.(?)" "probably_damaging(0.967)" "" "missense_variant" "" "" "deleterious(0)" "0000000521" "00001153" "99" "619" "0" "619" "0" "c.619G>A" "5/6" "p.(Gly207Arg)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000522" "00001152" "99" "815" "0" "815" "0" "c.815C>T" "7/7" "p.(Thr272Ile)" "r.(?)" "probably_damaging(0.918)" "" "missense_variant" "" "" "deleterious(0)" "0000000522" "00001153" "99" "776" "0" "776" "0" "c.776C>T" "6/6" "p.(Thr259Ile)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000523" "00001152" "99" "818" "0" "818" "0" "c.818T>A" "7/7" "p.(Met273Lys)" "r.(?)" "benign(0.154)" "" "missense_variant" "" "" "deleterious(0)" "0000000523" "00001153" "99" "779" "0" "779" "0" "c.779T>A" "6/6" "p.(Met260Lys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000524" "00001152" "99" "823" "0" "823" "0" "c.823C>T" "7/7" "p.(Arg275*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000524" "00001153" "99" "784" "0" "784" "0" "c.784C>T" "6/6" "p.(Arg262*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000525" "00001152" "99" "824" "0" "824" "0" "c.824G>A" "7/7" "p.(Arg275Gln)" "r.(?)" "probably_damaging(0.996)" "" "missense_variant" "" "" "deleterious(0)" "0000000525" "00001153" "99" "785" "0" "785" "0" "c.785G>A" "6/6" "p.(Arg262Gln)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000526" "00001152" "99" "847" "0" "847" "0" "c.847C>T" "7/7" "p.(Leu283Phe)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000000526" "00001153" "99" "808" "0" "808" "0" "c.808C>T" "6/6" "p.(Leu270Phe)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000005243" "00001152" "00" "562" "0" "564" "0" "c.562_564del" "" "p.(Phe188del)" "r.(?)" "" "" "" "" "" "-" "0000005243" "00001153" "00" "523" "0" "525" "0" "c.523_525del" "" "p.(Phe175del)" "r.(?)" "" "" "" "" "" "-" "0000017198" "00001152" "00" "-320" "0" "-320" "0" "c.-320G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017199" "00001152" "00" "-304" "0" "-304" "0" "c.-304C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017200" "00001152" "00" "-274" "0" "-274" "0" "c.-274T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017201" "00001152" "00" "-273" "0" "-273" "0" "c.-273C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017202" "00001152" "00" "-259" "0" "-259" "0" "c.-259G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017203" "00001152" "00" "-245" "0" "-245" "0" "c.-245C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017204" "00001152" "00" "-167" "0" "-167" "0" "c.-167G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017205" "00001152" "00" "-101" "0" "-101" "0" "c.-101C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017206" "00001152" "00" "-67" "0" "-67" "0" "c.-67A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017207" "00001152" "00" "-41" "0" "-41" "0" "c.-41G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017208" "00001152" "00" "44" "0" "44" "0" "c.44C>A" "" "p.(Ala15Glu)" "r.(?)" "" "" "" "" "" "-" "0000017209" "00001152" "00" "79" "0" "79" "0" "c.79G>A" "" "p.(Gly27Arg)" "r.(?)" "" "" "" "" "" "-" "0000017209" "00001153" "00" "40" "0" "40" "0" "c.40G>A" "" "p.(Gly14Arg)" "r.(?)" "" "" "" "" "" "-" "0000017210" "00001152" "00" "95" "0" "95" "0" "c.95C>G" "" "p.(Thr32Arg)" "r.(?)" "" "" "" "" "" "-" "0000017210" "00001153" "00" "56" "0" "56" "0" "c.56C>G" "" "p.(Thr19Arg)" "r.(?)" "" "" "" "" "" "-" "0000017211" "00001152" "00" "110" "0" "110" "0" "c.110T>G" "" "p.(Met37Arg)" "r.(?)" "" "" "" "" "" "-" "0000017211" "00001153" "00" "71" "0" "71" "0" "c.71T>G" "" "p.(Met24Arg)" "r.(?)" "" "" "" "" "" "-" "0000017212" "00001152" "00" "117" "0" "117" "0" "c.117G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017212" "00001153" "00" "78" "0" "78" "0" "c.78G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017213" "00001152" "00" "182" "0" "182" "0" "c.182G>A" "" "p.(Arg61His)" "r.(?)" "" "" "" "" "" "-" "0000017213" "00001153" "00" "143" "0" "143" "0" "c.143G>A" "" "p.(Arg48His)" "r.(?)" "" "" "" "" "" "-" "0000017214" "00001152" "00" "212" "0" "212" "0" "c.212T>A" "" "p.(Leu71Gln)" "r.(?)" "" "" "" "" "" "-" "0000017214" "00001153" "00" "173" "0" "173" "0" "c.173T>A" "" "p.(Leu58Gln)" "r.(?)" "" "" "" "" "" "-" "0000017215" "00001152" "00" "225" "0" "225" "0" "c.225C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017215" "00001153" "00" "186" "0" "186" "0" "c.186C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017216" "00001152" "00" "278" "0" "278" "0" "c.278G>A" "" "p.(Arg93Gln)" "r.(?)" "" "" "" "" "" "-" "0000017216" "00001153" "00" "239" "0" "239" "0" "c.239G>A" "" "p.(Arg80Gln)" "r.(?)" "" "" "" "" "" "-" "0000017217" "00001152" "00" "333" "0" "333" "0" "c.333C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017217" "00001153" "00" "294" "0" "294" "0" "c.294C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017218" "00001152" "00" "337" "0" "337" "0" "c.337G>T" "" "p.(Gly113Cys)" "r.(?)" "" "" "" "" "" "-" "0000017218" "00001153" "00" "298" "0" "298" "0" "c.298G>T" "" "p.(Gly100Cys)" "r.(?)" "" "" "" "" "" "-" "0000017219" "00001152" "00" "343" "0" "343" "0" "c.343T>G" "" "p.(Phe115Val)" "r.(?)" "" "" "" "" "" "-" "0000017219" "00001153" "00" "304" "0" "304" "0" "c.304T>G" "" "p.(Phe102Val)" "r.(?)" "" "" "" "" "" "-" "0000017220" "00001152" "00" "345" "0" "345" "0" "c.345C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017220" "00001153" "00" "306" "0" "306" "0" "c.306C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017221" "00001152" "00" "535" "0" "535" "0" "c.535C>T" "" "p.(Arg179*)" "r.(?)" "" "" "" "" "" "-" "0000017221" "00001153" "00" "496" "0" "496" "0" "c.496C>T" "" "p.(Arg166*)" "r.(?)" "" "" "" "" "" "-" "0000017222" "00001152" "00" "538" "0" "538" "0" "c.538G>A" "" "p.(Glu180Lys)" "r.(?)" "" "" "" "" "" "-" "0000017222" "00001153" "00" "499" "0" "499" "0" "c.499G>A" "" "p.(Glu167Lys)" "r.(?)" "" "" "" "" "" "-" "0000017223" "00001152" "00" "552" "0" "552" "0" "c.552T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017223" "00001153" "00" "513" "0" "513" "0" "c.513T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017224" "00001152" "00" "553" "0" "555" "0" "c.553_555del" "" "p.(Phe188del)" "r.(?)" "" "" "" "" "" "-" "0000017224" "00001153" "00" "514" "0" "516" "0" "c.514_516del" "" "p.(Phe175del)" "r.(?)" "" "" "" "" "" "-" "0000017225" "00001152" "00" "564" "0" "564" "0" "c.564C>G" "" "p.(Phe188Leu)" "r.(?)" "" "" "" "" "" "-" "0000017225" "00001153" "00" "525" "0" "525" "0" "c.525C>G" "" "p.(Phe175Leu)" "r.(?)" "" "" "" "" "" "-" "0000017226" "00001152" "00" "565" "0" "565" "0" "c.565G>A" "" "p.(Gly189Ser)" "r.(?)" "" "" "" "" "" "-" "0000017226" "00001153" "00" "526" "0" "526" "0" "c.526G>A" "" "p.(Gly176Ser)" "r.(?)" "" "" "" "" "" "-" "0000017227" "00001152" "00" "569" "0" "569" "0" "c.569G>A" "" "p.(Gly190Asp)" "r.(?)" "" "" "" "" "" "-" "0000017227" "00001153" "00" "530" "0" "530" "0" "c.530G>A" "" "p.(Gly177Asp)" "r.(?)" "" "" "" "" "" "-" "0000017228" "00001152" "00" "632" "0" "632" "0" "c.632C>T" "" "p.(Pro211Leu)" "r.(?)" "" "" "" "" "" "-" "0000017228" "00001153" "00" "593" "0" "593" "0" "c.593C>T" "" "p.(Pro198Leu)" "r.(?)" "" "" "" "" "" "-" "0000017229" "00001152" "00" "658" "0" "658" "0" "c.658G>A" "" "p.(Gly220Arg)" "r.(?)" "" "" "" "" "" "-" "0000017229" "00001153" "00" "619" "0" "619" "0" "c.619G>A" "" "p.(Gly207Arg)" "r.(?)" "" "" "" "" "" "-" "0000017230" "00001152" "00" "760" "0" "760" "0" "c.760A>T" "" "p.(Ile254Leu)" "r.(?)" "" "" "" "" "" "-" "0000017230" "00001153" "00" "721" "0" "721" "0" "c.721A>T" "" "p.(Ile241Leu)" "r.(?)" "" "" "" "" "" "-" "0000017231" "00001152" "00" "789" "0" "789" "0" "c.789G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017231" "00001153" "00" "750" "0" "750" "0" "c.750G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017232" "00001152" "00" "815" "0" "815" "0" "c.815C>T" "" "p.(Thr272Ile)" "r.(?)" "" "" "" "" "" "-" "0000017232" "00001153" "00" "776" "0" "776" "0" "c.776C>T" "" "p.(Thr259Ile)" "r.(?)" "" "" "" "" "" "-" "0000017233" "00001152" "00" "818" "0" "818" "0" "c.818T>A" "" "p.(Met273Lys)" "r.(?)" "" "" "" "" "" "-" "0000017233" "00001153" "00" "779" "0" "779" "0" "c.779T>A" "" "p.(Met260Lys)" "r.(?)" "" "" "" "" "" "-" "0000017234" "00001152" "00" "823" "0" "823" "0" "c.823C>T" "" "p.(Arg275*)" "r.(?)" "" "" "" "" "" "-" "0000017234" "00001153" "00" "784" "0" "784" "0" "c.784C>T" "" "p.(Arg262*)" "r.(?)" "" "" "" "" "" "-" "0000017235" "00001152" "00" "824" "0" "824" "0" "c.824G>A" "" "p.(Arg275Gln)" "r.(?)" "" "" "" "" "" "-" "0000017235" "00001153" "00" "785" "0" "785" "0" "c.785G>A" "" "p.(Arg262Gln)" "r.(?)" "" "" "" "" "" "-" "0000017236" "00001152" "00" "847" "0" "847" "0" "c.847C>T" "" "p.(Leu283Phe)" "r.(?)" "" "" "" "" "" "-" "0000017236" "00001153" "00" "808" "0" "808" "0" "c.808C>T" "" "p.(Leu270Phe)" "r.(?)" "" "" "" "" "" "-" "0000017237" "00001152" "00" "954" "0" "954" "0" "c.*48T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017237" "00001153" "00" "915" "0" "915" "0" "c.*48T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017238" "00001152" "00" "964" "0" "964" "0" "c.*58G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017238" "00001153" "00" "925" "0" "925" "0" "c.*58G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017239" "00001152" "00" "1065" "0" "1065" "0" "c.*159C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017239" "00001153" "00" "1026" "0" "1026" "0" "c.*159C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017240" "00001152" "00" "1123" "0" "1123" "0" "c.*217G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017240" "00001153" "00" "1084" "0" "1084" "0" "c.*217G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017241" "00001152" "00" "1259" "0" "1259" "0" "c.*353A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017241" "00001153" "00" "1220" "0" "1220" "0" "c.*353A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017242" "00001152" "00" "1326" "0" "1326" "0" "c.*420T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017242" "00001153" "00" "1287" "0" "1287" "0" "c.*420T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017243" "00001152" "00" "1421" "0" "1421" "0" "c.*515A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017243" "00001153" "00" "1382" "0" "1382" "0" "c.*515A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017244" "00001152" "00" "1485" "0" "1485" "0" "c.*579C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017244" "00001153" "00" "1446" "0" "1446" "0" "c.*579C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017245" "00001152" "00" "1516" "0" "1516" "0" "c.*610G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017245" "00001153" "00" "1477" "0" "1477" "0" "c.*610G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017246" "00001152" "00" "1545" "0" "1545" "0" "c.*639G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017246" "00001153" "00" "1506" "0" "1506" "0" "c.*639G>A" "" "p.(=)" 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