### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC25A13) # 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}}" "SLC25A13" "solute carrier family 25 (aspartate/glutamate carrier), member 13" "7" "q21.3" "unknown" "NC_000007.13" "UD_132084525343" "" "" "" "1" "1" "10983" "10165" "603859" "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 = 3 "{{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}}" "00001149" "SLC25A13" "solute carrier family 25, member 13 (citrin), transcript variant 3" "001" "NR_027662.1" "" "" "" "" "" "1" "3074" "3074" "95951459" "95749532" "00001" "2013-11-12 21:56:25" "" "" "" "7" "00001150" "SLC25A13" "solute carrier family 25, member 13 (citrin), transcript variant 2" "002" "NM_014251.2" "" "NP_055066.1" "" "" "" "-191" "2999" "2028" "95951459" "95749532" "00001" "2013-11-12 21:56:25" "" "" "" "7" "00001151" "SLC25A13" "solute carrier family 25, member 13 (citrin), transcript variant 1" "003" "NM_001160210.1" "" "NP_001153682.1" "" "" "" "-191" "3002" "2031" "95951459" "95749532" "00001" "2013-11-12 21:56:25" "" "" "" "7" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00088" "CTLN2" "Citrullinemia, adult-onset type II, 603471 (3)" "603471" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" "00089" "605814" "Citrullinemia, type II, neonatal-onset, 605814 (3)" "605814" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SLC25A13" "00088" "SLC25A13" "00089" ## 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 = 53 "{{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}}" "0000001220" "0" "99" "7" "95750995" "95750995" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 03:06:32" "SLC25A13_000019" "g.95750995G>A" "" "{PMID:11153906:11153906};{PMID:20301360:20301360}" "" "rs80338729" "subst" "0" "; clinVar; Ensembl;" "4.060" "" "" "" "" "MSCV_0001220" "" "0000001221" "0" "00" "7" "95750998" "95750998" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 03:10:40" "SLC25A13_000020" "g.95750998G>A" "" "" "" "NA" "subst" "0" ";" "4.940" "" "" "" "" "MSCV_0001221" "" "0000001222" "0" "99" "7" "95751007" "95751007" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 05:35:09" "SLC25A13_000001" "g.95751007C>A" "" "{PMID:11793471:11793471};{PMID:20301360:20301360}" "" "rs80338727" "subst" "0" "; clinVar; Ensembl;" "4.940" "" "" "" "" "MSCV_0001222" "" "0000001223" "0" "99" "7" "95751007" "95751007" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 03:07:43" "SLC25A13_000002" "g.95751007C>T" "" "{PMID:11793471:11793471};{PMID:20301360:20301360}" "" "rs80338727" "subst" "0" "; clinVar; Ensembl;" "4.940" "" "" "" "" "MSCV_0001223" "" "0000001224" "0" "99" "7" "95751008" "95751009" "ins" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 07:57:50" "SLC25A13_000003" "g.95751008_95751009insT" "" "{PMID:11153906:11153906};{PMID:11343052:11343052};{PMID:20301360:20301360}" "" "rs80338726" "ins" "0" "; clinVar; Ensembl;" "" "" "" "" "" "MSCV_0001224" "" "0000001225" "0" "55" "7" "95751011" "95751012" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 02:56:31" "SLC25A13_000004" "g.95751011_95751012insT" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0001225" "" "0000001226" "0" "99" "7" "95751045" "95751045" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 02:56:28" "SLC25A13_000005" "g.95751045C>T" "" "{PMID:18367750:18367750}" "" "rs121908532" "subst" "0" "; clinVar; Ensembl;" "4.940" "" "" "" "" "MSCV_0001226" "" "0000001227" "0" "99" "7" "95751240" "95751241" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 05:15:55" "SLC25A13_000006" "g.95751240_95751241insCCCGGGCAGCCACCTGTAATCTC" "" "{PMID:20301360:20301360};{PMID:10369257:10369257}" "" "rs80338725" "ins" "0" "; clinVar;" "" "" "" "" "" "MSCV_0001227" "" "0000001229" "0" "99" "7" "95751309" "95751309" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-05-24 21:04:52" "SLC25A13_000007" "g.95751309C>T" "" "{PMID:20301360:20301360};{PMID:18392553:18392553}" "" "rs80338724" "subst" "0" "; clinVar; Ensembl;" "5.040" "" "" "" "" "MSCV_0001229" "" "0000001230" "0" "99" "7" "95799356" "95799356" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 03:10:27" "SLC25A13_000008" "g.95799356C>T" "" "{PMID:20301360:20301360};{PMID:10369257:10369257}" "" "rs80338723" "subst" "0" "; clinVar; Ensembl;" "4.920" "" "" "" "" "MSCV_0001230" "" "0000001231" "0" "99" "7" "95813588" "95813588" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 02:52:40" "SLC25A13_000009" "g.95813588C>T" "" "{PMID:12424587:12424587};{PMID:10369257:10369257};{PMID:11281457:11281457};{PMID:11343053:11343053};{PMID:20301360:20301360}" "" "rs80338722" "subst" "0" "; clinVar; Ensembl;" "4.720" "" "" "" "" "MSCV_0001231" "" "0000001232" "0" "55" "7" "95813591" "95813591" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 02:50:28" "SLC25A13_000010" "g.95813591C>T" "" "" "" "" "subst" "0" ";" "4.720" "" "" "" "" "MSCV_0001232" "" "0000001233" "0" "99" "7" "95813688" "95813688" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-07-19 16:01:54" "SLC25A13_000011" "g.95813688G>A" "" "{PMID:18392553:18392553};{PMID:20301360:20301360}" "" "rs80338721" "subst" "0" "; clinVar; Ensembl;" "2.650" "" "" "" "" "MSCV_0001233" "" "0000001234" "0" "00" "7" "95813691" "95813691" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 02:57:17" "SLC25A13_000012" "g.95813691G>A" "" "" "" "NA" "subst" "0" ";" "4.560" "" "" "" "" "MSCV_0001234" "" "0000001235" "0" "77" "7" "95813702" "95813702" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-09-23 13:56:04" "SLC25A13_000013" "g.95813702C>T" "" "" "" "rs398122839" "subst" "0" "; clinvar;" "3.680" "" "" "" "" "MSCV_0001235" "" "0000001236" "0" "99" "7" "95818685" "95818688" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 03:04:24" "SLC25A13_000014" "g.95818685_95818688del" "" "{PMID:10369257:10369257};{PMID:11281457:11281457};{PMID:20301360:20301360};{PMID:12424587:12424587}" "" "rs80338720" "del" "0" "; clinVar; Ensembl;" "" "" "" "" "" "MSCV_0001236" "" "0000001237" "0" "99" "7" "95820501" "95820501" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 02:48:19" "SLC25A13_000015" "g.95820501G>T" "" "{PMID:10369257:10369257};{PMID:20301360:20301360}" "" "rs80338719" "subst" "0" "; clinVar; Ensembl;" "5.180" "" "" "" "" "MSCV_0001237" "" "0000001238" "0" "99" "7" "95822344" "95822344" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 07:57:50" "SLC25A13_000016" "g.95822344C>T" "" "{PMID:15050970:15050970};{PMID:20301360:20301360}" "" "rs80338717" "subst" "0" "; clinVar; Ensembl;" "4.330" "" "" "" "" "MSCV_0001238" "" "0000001239" "0" "99" "7" "95822348" "95822348" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 05:35:28" "SLC25A13_000017" "g.95822348C>G" "" "{PMID:16059747:16059747};{PMID:20301360:20301360}" "" "rs80338718" "subst" "0" "; clinVar; Ensembl;" "4.990" "" "" "" "" "MSCV_0001239" "" "0000001240" "0" "99" "7" "95822414" "95822414" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 02:49:56" "SLC25A13_000018" "g.95822414G>A" "" "{PMID:15050970:15050970};{PMID:20301360:20301360}" "" "rs80338716" "subst" "0" "; clinVar; Ensembl;" "4.210" "" "" "" "" "MSCV_0001240" "" "0000001241" "0" "99" "7" "95951254" "95951254" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-10 03:06:03" "SLC25A13_000021" "g.95951254C>T" "" "{PMID:18392553:18392553};{PMID:20301360:20301360}" "" "rs80338715" "subst" "0" "; clinVar; Ensembl;" "3.160" "" "" "" "" "MSCV_0001241" "" "0000005231" "0" "99" "7" "95751240" "95751241" "ins" "35" "0" "00000" "9" "00001" "2015-03-12 18:41:14" "00000" "2019-04-10 03:03:20" "SLC25A13_000006" "g.95751240_95751241insCCCGGGCAGCCACCTGTAATCTC" "" "{PMID:20301360:20301360};{PMID:10369257:10369257}" "" "rs80338725" "ins" "0" "; ensembl;" "" "" "" "" "" "MSCV_0005231" "" "0000005232" "0" "99" "7" "95751008" "95751009" "ins" "35" "0" "00000" "9" "00001" "2015-03-12 18:41:14" "00000" "2019-04-10 05:17:04" "SLC25A13_000003" "g.95751008_95751009insT" "" "{PMID:11153906:11153906};{PMID:11343052:11343052};{PMID:20301360:20301360}" "" "rs80338726" "ins" "0" "; ensembl;" "" "" "" "" "" "MSCV_0005232" "" "0000022193" "0" "55" "7" "95750573" "95750573" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 02:54:47" "SLC25A13_000029" "g.95750573T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022193" "" "0000022194" "0" "99" "7" "95750995" "95750995" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-09 19:06:31" "SLC25A13_000019" "g.95750995G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001220" "" "0000022195" "0" "99" "7" "95751007" "95751007" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 02:55:42" "SLC25A13_000002" "g.95751007C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001223" "" "0000022196" "0" "99" "7" "95751007" "95751007" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 03:26:04" "SLC25A13_000001" "g.95751007C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001222" "" "0000022197" "0" "99" "7" "95751008" "95751009" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 02:55:33" "SLC25A13_000003" "g.95751008_95751009insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001224" "" "0000022198" "0" "99" "7" "95751045" "95751045" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 03:07:30" "SLC25A13_000005" "g.95751045C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001226" "" "0000022199" "0" "99" "7" "95751240" "95751241" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 03:08:35" "SLC25A13_000006" "g.95751240_95751241insCCCGGGCAGCCACCTGTAATCTC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001227" "" "0000022200" "0" "99" "7" "95751309" "95751309" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 05:35:13" "SLC25A13_000007" "g.95751309C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001229" "" "0000022201" "0" "55" "7" "95761141" "95761141" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 05:15:42" "SLC25A13_000028" "g.95761141G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022201" "" "0000022202" "0" "99" "7" "95799356" "95799356" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 05:35:33" "SLC25A13_000008" "g.95799356C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001230" "" "0000022203" "0" "55" "7" "95799357" "95799357" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 03:42:29" "SLC25A13_000027" "g.95799357G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022203" "" "0000022204" "0" "99" "7" "95813588" "95813588" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 05:17:15" "SLC25A13_000009" "g.95813588C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001231" "" "0000022205" "0" "99" "7" "95813688" "95813688" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 03:11:26" "SLC25A13_000011" "g.95813688G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001233" "" "0000022206" "0" "55" "7" "95813702" "95813702" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 07:57:50" "SLC25A13_000013" "g.95813702C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001235" "" "0000022207" "0" "99" "7" "95818684" "95818687" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-04-06 01:50:01" "SLC25A13_000022" "g.95818684_95818687del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022207" "" "0000022208" "0" "99" "7" "95818966" "95818966" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 03:13:59" "SLC25A13_000023" "g.95818966G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022208" "" "0000022209" "0" "99" "7" "95820501" "95820501" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 03:34:31" "SLC25A13_000015" "g.95820501G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001237" "" "0000022210" "0" "55" "7" "95820570" "95820570" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 03:07:27" "SLC25A13_000024" "g.95820570T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022210" "" "0000022211" "0" "99" "7" "95822344" "95822344" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 07:57:50" "SLC25A13_000016" "g.95822344C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001238" "" "0000022212" "0" "99" "7" "95822348" "95822348" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 03:06:53" "SLC25A13_000017" "g.95822348C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001239" "" "0000022213" "0" "99" "7" "95822414" "95822414" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 03:26:07" "SLC25A13_000018" "g.95822414G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001240" "" "0000022214" "0" "99" "7" "95822469" "95822469" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 03:26:43" "SLC25A13_000025" "g.95822469del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022214" "" "0000022215" "0" "77" "7" "95838149" "95838149" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 03:26:19" "SLC25A13_000026" "g.95838149C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022215" "" "0000022216" "0" "99" "7" "95951254" "95951254" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-10 05:16:13" "SLC25A13_000021" "g.95951254C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001241" "" "0000026618" "0" "00" "7" "95750615" "95750615" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:48:23" "SLC25A13_000032" "g.95750615del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026619" "0" "00" "7" "95750621" "95750621" "subst" "35" "0.000691988" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:48:39" "SLC25A13_000033" "g.95750621A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026620" "0" "00" "7" "95751236" "95751237" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:48:56" "SLC25A13_000034" "g.95751236_95751237insCCCCGGGCAGCCACCTGTAATCT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026621" "0" "00" "7" "95799401" "95799401" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:49:13" "SLC25A13_000035" "g.95799401C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026622" "0" "00" "7" "95813703" "95813703" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:39:15" "SLC25A13_000031" "g.95813703G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026623" "0" "00" "7" "95822471" "95822471" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:29:08" "SLC25A13_000030" "g.95822471G>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 = 159 "{{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}}" "0000001220" "00001149" "99" "1888" "0" "1888" "0" "n.1888C>T" "16/17" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001220" "00001150" "99" "1813" "0" "1813" "0" "c.1813C>T" "17/18" "p.(Arg605*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001220" "00001151" "99" "1816" "0" "1816" "0" "c.1816C>T" "17/18" "p.(Arg606*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001221" "00001149" "00" "1885" "0" "1885" "0" "n.1885C>T" "16/17" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001221" "00001150" "00" "1810" "0" "1810" "0" "c.1810C>T" "17/18" "p.(Gln604*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001221" "00001151" "00" "1813" "0" "1813" "0" "c.1813C>T" "17/18" "p.(Gln605*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001222" "00001149" "99" "1876" "0" "1876" "0" "n.1876G>T" "16/17" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001222" "00001150" "99" "1801" "0" "1801" "0" "c.1801G>T" "17/18" "p.(Glu601*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001222" "00001151" "99" "1804" "0" "1804" "0" "c.1804G>T" "17/18" "p.(Glu602*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001223" "00001149" "99" "1876" "0" "1876" "0" "n.1876G>A" "16/17" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001223" "00001150" "99" "1801" "0" "1801" "0" "c.1801G>A" "17/18" "p.(Glu601Lys)" "r.(?)" "probably_damaging(0.977)" "" "missense_variant" "" "" "deleterious(0)" "0000001223" "00001151" "99" "1804" "0" "1804" "0" "c.1804G>A" "17/18" "p.(Glu602Lys)" "r.(?)" "possibly_damaging(0.581)" "" "missense_variant" "" "" "deleterious(0)" "0000001224" "00001149" "00" "1874" "0" "1875" "0" "n.1874_1875insA" "" "" "" "" "" "" "" "" "-" "0000001224" "00001150" "99" "1800" "0" "1799" "0" "c.1799_1800insA" "" "p.(Tyr600*)" "r.(?)" "" "" "" "" "" "-" "0000001224" "00001151" "00" "1802" "0" "1803" "0" "c.1802_1803insA" "" "p.(Tyr601*)" "r.(?)" "" "" "" "" "" "-" "0000001225" "00001149" "55" "1872" "0" "1871" "0" "n.1871_1872insA" "16/17" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001225" "00001150" "55" "1797" "0" "1796" "0" "c.1796_1797insA" "17/18" "p.(Tyr600Leufs*11)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000001225" "00001151" "55" "1800" "0" "1799" "0" "c.1799_1800insA" "17/18" "p.(Tyr601Leufs*11)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000001226" "00001149" "99" "1838" "0" "1838" "0" "n.1838G>A" "16/17" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001226" "00001150" "99" "1763" "0" "1763" "0" "c.1763G>A" "17/18" "p.(Arg588Gln)" "r.(?)" "probably_damaging(0.938)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001226" "00001151" "99" "1766" "0" "1766" "0" "c.1766G>A" "17/18" "p.(Arg589Gln)" "r.(?)" "probably_damaging(0.952)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001227" "00001149" "00" "1735" "0" "1736" "0" "n.1735_1736insGAGATTACAGGTGGCTGCCCGGG" "" "" "" "" "" "" "" "" "-" "0000001227" "00001150" "99" "1661" "0" "1660" "0" "c.1660_1661insGAGATTACAGGTGGCTGCCCGGG" "" "p.(Ala554Glyfs*17)" "r.(?)" "" "" "" "" "" "-" "0000001227" "00001151" "00" "1663" "0" "1664" "0" "c.1663_1664insGAGATTACAGGTGGCTGCCCGGG" "" "p.(Ala555Glyfs*17)" "r.(?)" "" "" "" "" "" "-" "0000001229" "00001149" "99" "1667" "0" "1667" "0" "n.1667G>A" "15/17" "" "" "-" "" "splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001229" "00001150" "99" "1592" "0" "1592" "0" "c.1592G>A" "16/18" "p.(Gly531Asp)" "r.(?)" "probably_damaging(0.996)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000001229" "00001151" "99" "1595" "0" "1595" "0" "c.1595G>A" "16/18" "p.(Gly532Asp)" "r.(?)" "probably_damaging(1)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000001230" "00001149" "99" "1386" "1" "1386" "1" "n.1386+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant,non_coding_transcript_variant" "" "" "-" "0000001230" "00001150" "99" "1311" "1" "1311" "1" "c.1311+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000001230" "00001151" "99" "1314" "1" "1314" "1" "c.1314+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000001231" "00001149" "99" "1252" "1" "1252" "1" "n.1252+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant,non_coding_transcript_variant" "" "" "-" "0000001231" "00001150" "99" "1177" "1" "1177" "1" "c.1177+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000001231" "00001151" "99" "1180" "1" "1180" "1" "c.1180+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000001232" "00001149" "55" "1250" "0" "1250" "0" "n.1250G>A" "10/17" "" "" "-" "" "splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001232" "00001150" "55" "1175" "0" "1175" "0" "c.1175G>A" "11/18" "p.(Arg392Lys)" "r.(?)" "benign(0.302)" "" "missense_variant,splice_region_variant" "" "" "tolerated(0.07)" "0000001232" "00001151" "55" "1178" "0" "1178" "0" "c.1178G>A" "11/18" "p.(Arg393Lys)" "r.(?)" "possibly_damaging(0.792)" "" "missense_variant,splice_region_variant" "" "" "tolerated(0.06)" "0000001233" "00001149" "99" "1153" "0" "1153" "0" "n.1153C>T" "10/17" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001233" "00001150" "99" "1078" "0" "1078" "0" "c.1078C>T" "11/18" "p.(Arg360*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001233" "00001151" "99" "1081" "0" "1081" "0" "c.1081C>T" "11/18" "p.(Arg361*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001234" "00001149" "00" "1150" "0" "1150" "0" "n.1150C>T" "10/17" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001234" "00001150" "00" "1075" "0" "1075" "0" "c.1075C>T" "11/18" "p.(Gln359*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001234" "00001151" "00" "1078" "0" "1078" "0" "c.1078C>T" "11/18" "p.(Gln360*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001235" "00001149" "77" "1139" "0" "1139" "0" "n.1139G>A" "10/17" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001235" "00001150" "77" "1064" "0" "1064" "0" "c.1064G>A" "11/18" "p.(Arg355Gln)" "r.(?)" "probably_damaging(0.987)" "" "missense_variant" "" "" "deleterious(0)" "0000001235" "00001151" "77" "1067" "0" "1067" "0" "c.1067G>A" "11/18" "p.(Arg356Gln)" "r.(?)" "probably_damaging(0.993)" "" "missense_variant" "" "" "deleterious(0)" "0000001236" "00001149" "99" "929" "0" "926" "0" "n.926_929del" "" "" "" "" "" "" "" "" "-" "0000001236" "00001150" "99" "854" "0" "851" "0" "c.851_854del" "" "p.(Met285Profs*2)" "r.(?)" "" "" "" "" "" "-" "0000001236" "00001151" "99" "854" "0" "851" "0" "c.851_854del" "" "p.(Met285Profs*2)" "r.(?)" "" "" "" "" "" "-" "0000001237" "00001149" "99" "749" "0" "749" "0" "n.749C>A" "6/17" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001237" "00001150" "99" "674" "0" "674" "0" "c.674C>A" "7/18" "p.(Ser225*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001237" "00001151" "99" "674" "0" "674" "0" "c.674C>A" "7/18" "p.(Ser225*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001238" "00001149" "99" "690" "5" "690" "5" "n.690+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000001238" "00001150" "99" "615" "5" "615" "5" "c.615+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000001238" "00001151" "99" "615" "5" "615" "5" "c.615+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000001239" "00001149" "99" "690" "1" "690" "1" "n.690+1G>C" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant,non_coding_transcript_variant" "" "" "-" "0000001239" "00001150" "99" "615" "1" "615" "1" "c.615+1G>C" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000001239" "00001151" "99" "615" "1" "615" "1" "c.615+1G>C" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000001240" "00001149" "99" "625" "0" "625" "0" "n.625C>T" "5/17" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001240" "00001150" "99" "550" "0" "550" "0" "c.550C>T" "6/18" "p.(Arg184*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001240" "00001151" "99" "550" "0" "550" "0" "c.550C>T" "6/18" "p.(Arg184*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001241" "00001149" "99" "206" "0" "206" "0" "n.206G>A" "1/17" "" "" "-" "" "splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001241" "00001150" "99" "15" "0" "15" "0" "c.15G>A" "1/5" "p.(=)" "r.(=)" "-" "" "splice_region_variant,synonymous_variant,NMD_transcript_variant" "" "" "-" "0000001241" "00001151" "99" "15" "0" "15" "0" "c.15G>A" "1/5" "p.(=)" "r.(=)" "-" "" "splice_region_variant,synonymous_variant,NMD_transcript_variant" "" "" "-" "0000005231" "00001149" "00" "1736" "0" "1735" "0" "n.1735_1736insGAGATTACAGGTGGCTGCCCGGG" "" "" "" "" "" "" "" "" "-" "0000005231" "00001150" "00" "1661" "0" "1660" "0" "c.1660_1661insGAGATTACAGGTGGCTGCCCGGG" "" "p.(Ala554Glyfs*17)" "r.(?)" "" "" "" "" "" "-" "0000005231" "00001151" "00" "1664" "0" "1663" "0" "c.1663_1664insGAGATTACAGGTGGCTGCCCGGG" "" "p.(Ala555Glyfs*17)" "r.(?)" "" "" "" "" "" "-" "0000005232" "00001149" "00" "1875" "0" "1874" "0" "n.1874_1875insA" "" "" "" "" "" "" "" "" "-" "0000005232" "00001150" "00" "1800" "0" "1799" "0" "c.1799_1800insA" "" "p.(Tyr600*)" "r.(?)" "" "" "" "" "" "-" "0000005232" "00001151" "00" "1803" "0" "1802" "0" "c.1802_1803insA" "" "p.(Tyr601*)" "r.(?)" "" "" "" "" "" "-" "0000022193" "00001149" "00" "2033" "0" "2033" "0" "n.2033A>G" "" "" "" "" "" "" "" "" "-" "0000022193" "00001150" "00" "1958" "0" "1958" "0" "c.1958A>G" "" "p.(Lys653Arg)" "r.(?)" "" "" "" "" "" "-" "0000022193" "00001151" "00" "1961" "0" "1961" "0" "c.1961A>G" "" "p.(Lys654Arg)" "r.(?)" "" "" "" "" "" "-" "0000022194" "00001149" "00" "1888" "0" "1888" "0" "n.1888C>T" "" "" "" "" "" "" "" "" "-" "0000022194" "00001150" "00" "1813" "0" "1813" "0" "c.1813C>T" "" "p.(Arg605*)" "r.(?)" "" "" "" "" "" "-" "0000022194" "00001151" "00" "1816" "0" "1816" "0" "c.1816C>T" "" "p.(Arg606*)" "r.(?)" "" "" "" "" "" "-" "0000022195" "00001149" "00" "1876" "0" "1876" "0" "n.1876G>A" "" "" "" "" "" "" "" "" "-" "0000022195" "00001150" "00" "1801" "0" "1801" "0" "c.1801G>A" "" "p.(Glu601Lys)" "r.(?)" "" "" "" "" "" "-" "0000022195" "00001151" "00" "1804" "0" "1804" "0" "c.1804G>A" "" "p.(Glu602Lys)" "r.(?)" "" "" "" "" "" "-" "0000022196" "00001149" "00" "1876" "0" "1876" "0" "n.1876G>T" "" "" "" "" "" "" "" "" "-" "0000022196" "00001150" "00" "1801" "0" "1801" "0" "c.1801G>T" "" "p.(Glu601*)" "r.(?)" "" "" "" "" "" "-" "0000022196" "00001151" "00" "1804" "0" "1804" "0" "c.1804G>T" "" "p.(Glu602*)" "r.(?)" "" "" "" "" "" "-" "0000022197" "00001149" "00" "1874" "0" "1875" "0" "n.1874_1875insA" "" "" "" "" "" "" "" "" "-" "0000022197" "00001150" "00" "1799" "0" "1800" "0" "c.1799_1800insA" "" "p.(Tyr600*)" "r.(?)" "" "" "" "" "" "-" "0000022197" "00001151" "00" "1802" "0" "1803" "0" "c.1802_1803insA" "" "p.(Tyr601*)" "r.(?)" "" "" "" "" "" "-" "0000022198" "00001149" "00" "1838" "0" "1838" "0" "n.1838G>A" "" "" "" "" "" "" "" "" "-" "0000022198" "00001150" "00" "1763" "0" "1763" "0" "c.1763G>A" "" "p.(Arg588Gln)" "r.(?)" "" "" "" "" "" "-" "0000022198" "00001151" "00" "1766" "0" "1766" "0" "c.1766G>A" "" "p.(Arg589Gln)" "r.(?)" "" "" "" "" "" "-" "0000022199" "00001149" "00" "1735" "0" "1736" "0" "n.1735_1736insGAGATTACAGGTGGCTGCCCGGG" "" "" "" "" "" "" "" "" "-" "0000022199" "00001150" "00" "1660" "0" "1661" "0" "c.1660_1661insGAGATTACAGGTGGCTGCCCGGG" "" "p.(Ala554Glyfs*17)" "r.(?)" "" "" "" "" "" "-" "0000022199" "00001151" "00" "1663" "0" "1664" "0" "c.1663_1664insGAGATTACAGGTGGCTGCCCGGG" "" "p.(Ala555Glyfs*17)" "r.(?)" "" "" "" "" "" "-" "0000022200" "00001149" "00" "1667" "0" "1667" "0" "n.1667G>A" "" "" "" "" "" "" "" "" "-" "0000022200" "00001150" "00" "1592" "0" "1592" "0" "c.1592G>A" "" "p.(Gly531Asp)" "r.(?)" "" "" "" "" "" "-" "0000022200" "00001151" "00" "1595" "0" "1595" "0" "c.1595G>A" "" "p.(Gly532Asp)" "r.(?)" "" "" "" "" "" "-" "0000022201" "00001149" "00" "1580" "0" "1580" "0" "n.1580C>T" "" "" "" "" "" "" "" "" "-" "0000022201" "00001150" "00" "1505" "0" "1505" "0" "c.1505C>T" "" "p.(Pro502Leu)" "r.(?)" "" "" "" "" "" "-" "0000022201" "00001151" "00" "1508" "0" "1508" "0" "c.1508C>T" "" "p.(Pro503Leu)" "r.(?)" "" "" "" "" "" "-" "0000022202" "00001149" "00" "1386" "1" "1386" "1" "n.1386+1G>A" "" "" "" "" "" "" "" "" "-" "0000022202" "00001150" "00" "1311" "1" "1311" "1" "c.1311+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022202" "00001151" "00" "1314" "1" "1314" "1" "c.1314+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022203" "00001149" "00" "1386" "0" "1386" "0" "n.1386C>T" "" "" "" "" "" "" "" "" "-" "0000022203" "00001150" "00" "1311" "0" "1311" "0" "c.1311C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022203" "00001151" "00" "1314" "0" "1314" "0" "c.1314C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022204" "00001149" "00" "1252" "1" "1252" "1" "n.1252+1G>A" "" "" "" "" "" "" "" "" "-" "0000022204" "00001150" "00" "1177" "1" "1177" "1" "c.1177+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022204" "00001151" "00" "1180" "1" "1180" "1" "c.1180+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022205" "00001149" "00" "1153" "0" "1153" "0" "n.1153C>T" "" "" "" "" "" "" "" "" "-" "0000022205" "00001150" "00" "1078" "0" "1078" "0" "c.1078C>T" "" "p.(Arg360*)" "r.(?)" "" "" "" "" "" "-" "0000022205" "00001151" "00" "1081" "0" "1081" "0" "c.1081C>T" "" "p.(Arg361*)" "r.(?)" "" "" "" "" "" "-" "0000022206" "00001149" "00" "1139" "0" "1139" "0" "n.1139G>A" "" "" "" "" "" "" "" "" "-" "0000022206" "00001150" "00" "1064" "0" "1064" "0" "c.1064G>A" "" "p.(Arg355Gln)" "r.(?)" "" "" "" "" "" "-" "0000022206" "00001151" "00" "1067" "0" "1067" "0" "c.1067G>A" "" "p.(Arg356Gln)" "r.(?)" "" "" "" "" "" "-" "0000022207" "00001149" "00" "927" "0" "930" "0" "n.927_930del" "" "" "" "" "" "" "" "" "-" "0000022207" "00001150" "00" "852" "0" "855" "0" "c.852_855del" "" "p.(Met285Profs*2)" "r.(?)" "" "" "" "" "" "-" "0000022207" "00001151" "00" "852" "0" "855" "0" "c.852_855del" "" "p.(Met285Profs*2)" "r.(?)" "" "" "" "" "" "-" "0000022208" "00001149" "00" "850" "0" "850" "0" "n.850C>T" "" "" "" "" "" "" "" "" "-" "0000022208" "00001150" "00" "775" "0" "775" "0" "c.775C>T" "" "p.(Gln259*)" "r.(?)" "" "" "" "" "" "-" "0000022208" "00001151" "00" "775" "0" "775" "0" "c.775C>T" "" "p.(Gln259*)" "r.(?)" "" "" "" "" "" "-" "0000022209" "00001149" "00" "749" "0" "749" "0" "n.749C>A" "" "" "" "" "" "" "" "" "-" "0000022209" "00001150" "00" "674" "0" "674" "0" "c.674C>A" "" "p.(Ser225*)" "r.(?)" "" "" "" "" "" "-" "0000022209" "00001151" "00" "674" "0" "674" "0" "c.674C>A" "" "p.(Ser225*)" "r.(?)" "" "" "" "" "" "-" "0000022210" "00001149" "00" "691" "-11" "691" "-11" "n.691-11A>G" "" "" "" "" "" "" "" "" "-" "0000022210" "00001150" "00" "616" "-11" "616" "-11" "c.616-11A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022210" "00001151" "00" "616" "-11" "616" "-11" "c.616-11A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022211" "00001149" "00" "690" "5" "690" "5" "n.690+5G>A" "" "" "" "" "" "" "" "" "-" "0000022211" "00001150" "00" "615" "5" "615" "5" "c.615+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022211" "00001151" "00" "615" "5" "615" "5" "c.615+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022212" "00001149" "00" "690" "1" "690" "1" "n.690+1G>C" "" "" "" "" "" "" "" "" "-" "0000022212" "00001150" "00" "615" "1" "615" "1" "c.615+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022212" "00001151" "00" "615" "1" "615" "1" "c.615+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022213" "00001149" "00" "625" "0" "625" "0" "n.625C>T" "" "" "" "" "" "" "" "" "-" "0000022213" "00001150" "00" "550" "0" "550" "0" "c.550C>T" "" "p.(Arg184*)" "r.(?)" "" "" "" "" "" "-" "0000022213" "00001151" "00" "550" "0" "550" "0" "c.550C>T" "" "p.(Arg184*)" "r.(?)" "" "" "" "" "" "-" "0000022214" "00001149" "00" "570" "0" "570" "0" "n.570del" "" "" "" "" "" "" "" "" "-" "0000022214" "00001150" "00" "495" "0" "495" "0" "c.495del" "" "p.(Ala166Profs*30)" "r.(?)" "" "" "" "" "" "-" "0000022214" "00001151" "00" "495" "0" "495" "0" "c.495del" "" "p.(Ala166Profs*30)" "r.(?)" "" "" "" "" "" "-" "0000022215" "00001149" "00" "543" "1" "543" "1" "n.543+1G>C" "" "" "" "" "" "" "" "" "-" "0000022215" "00001150" "00" "468" "1" "468" "1" "c.468+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022215" "00001151" "00" "468" "1" "468" "1" "c.468+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022216" "00001149" "00" "206" "0" "206" "0" "n.206G>A" "" "" "" "" "" "" "" "" "-" "0000022216" "00001150" "00" "15" "0" "15" "0" "c.15G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022216" "00001151" "00" "15" "0" "15" "0" "c.15G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026618" "00001149" "00" "1991" "0" "1991" "0" "n.1991del" "" "" "" "" "" "" "" "" "-" "0000026618" "00001150" "00" "1916" "0" "1916" "0" "c.1916del" "" "p.(Gly639Alafs*61)" "r.(?)" "" "" "" "" "" "-" "0000026618" "00001151" "00" "1919" "0" "1919" "0" "c.1919del" "" "p.(Gly640Alafs*61)" "r.(?)" "" "" "" "" "" "-" "0000026619" "00001149" "00" "1985" "0" "1985" "0" "n.1985T>C" "" "" "" "" "" "" "" "" "-" "0000026619" "00001150" "00" "1910" "0" "1910" "0" "c.1910T>C" "" "p.(Val637Ala)" "r.(?)" "" "" "" "" "" "-" "0000026619" "00001151" "00" "1913" "0" "1913" "0" "c.1913T>C" "" "p.(Val638Ala)" "r.(?)" "" "" "" "" "" "-" "0000026620" "00001149" "00" "1739" "0" "1740" "0" "n.1739_1740insAGATTACAGGTGGCTGCCCGGGG" "" "" "" "" "" "" "" "" "-" "0000026620" "00001150" "00" "1664" "0" "1665" "0" "c.1664_1665insAGATTACAGGTGGCTGCCCGGGG" "" "p.(Gln556Aspfs*15)" "r.(?)" "" "" "" "" "" "-" "0000026620" "00001151" "00" "1667" "0" "1668" "0" "c.1667_1668insAGATTACAGGTGGCTGCCCGGGG" "" "p.(Gln557Aspfs*15)" "r.(?)" "" "" "" "" "" "-" "0000026621" "00001149" "00" "1342" "0" "1342" "0" "n.1342G>A" "" "" "" "" "" "" "" "" "-" "0000026621" "00001150" "00" "1267" "0" "1267" "0" "c.1267G>A" "" "p.(Asp423Asn)" "r.(?)" "" "" "" "" "" "-" "0000026621" "00001151" "00" "1270" "0" "1270" "0" "c.1270G>A" "" "p.(Asp424Asn)" "r.(?)" "" "" "" "" "" "-" "0000026622" "00001149" "00" "1138" "0" "1138" "0" "n.1138C>T" "" "" "" "" "" "" "" "" "-" "0000026622" "00001150" "00" "1063" "0" "1063" "0" "c.1063C>T" "" "p.(Arg355*)" "r.(?)" "" "" "" "" "" "-" "0000026622" "00001151" "00" "1066" "0" "1066" "0" "c.1066C>T" "" "p.(Arg356*)" "r.(?)" "" "" "" "" "" "-" "0000026623" "00001149" "00" "568" "0" "568" "0" "n.568C>T" "" "" "" "" "" "" "" "" "-" "0000026623" "00001150" "00" "493" "0" "493" "0" "c.493C>T" "" "p.(Gln165*)" "r.(?)" "" "" "" "" "" "-" "0000026623" "00001151" "00" "493" "0" "493" "0" "c.493C>T" "" "p.(Gln165*)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0