### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC25A20) # 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}}" "SLC25A20" "solute carrier family 25 (carnitine/acylcarnitine translocase), member 20" "3" "p21.31" "unknown" "NC_000003.11" "UD_132118322355" "" "" "" "1" "1" "1421" "788" "613698" "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 = 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}}" "00001158" "SLC25A20" "solute carrier family 25 (carnitine/acylcarnitine translocase), member 20" "001" "NM_000387.5" "" "NP_000378.1" "" "" "" "-199" "1693" "906" "48936426" "48894356" "00001" "2013-11-12 21:56:48" "" "" "" "3" ## 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}}" "00437" "CACTD" "CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY;CACTD" "212138" "" "" "" "00001" "2014-04-10 15:30:00" "00001" "2014-04-10 16:47:04" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC25A20" "00437" ## 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 = 47 "{{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}}" "0000000935" "0" "55" "3" "48895151" "48895152" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-13 12:03:36" "SLC25A20_000008" "g.48895151_48895152insG" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0000935" "" "0000000936" "0" "99" "3" "48896530" "48896530" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-13 12:03:36" "SLC25A20_000001" "g.48896530T>C" "" "{PMID:12859414:12859414};{PMID:15057979:15057979}" "" "rs28934589" "subst" "0" "; clinvar; ensembl;" "5.840" "" "" "" "" "MSCV_0000936" "" "0000000937" "0" "99" "3" "48897020" "48897020" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 03:15:00" "SLC25A20_000002" "g.48897020C>T" "" "" "" "" "subst" "0" ";" "5.810" "" "" "" "" "MSCV_0000937" "" "0000000938" "0" "99" "3" "48900014" "48900014" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-13 12:03:35" "SLC25A20_000003" "g.48900014G>A" "" "{PMID:10384384:10384384}" "" "rs151340616" "subst" "0" "; clinvar; ensembl;" "4.900" "" "" "" "" "MSCV_0000938" "" "0000000939" "0" "99" "3" "48921430" "48921557" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-07-31 22:18:04" "SLC25A20_000004" "g.48921430_48921557del" "" "" "" "" "del" "0" ";" "" "" "" "" "" "MSCV_0000939" "" "0000000940" "0" "99" "3" "48921567" "48921567" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:00:31" "SLC25A20_000005" "g.48921567A>C" "" "" "" "" "subst" "0" ";" "3.760" "" "" "" "" "MSCV_0000940" "" "0000000941" "0" "99" "3" "48929507" "48929507" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:00:32" "SLC25A20_000006" "g.48929507T>A" "" "" "" "" "subst" "0" ";" "4.760" "" "" "" "" "MSCV_0000941" "" "0000000942" "0" "55" "3" "48936144" "48936144" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:00:32" "SLC25A20_000007" "g.48936144del" "" "" "" "" "del" "0" ";" "-1.750" "" "" "" "" "MSCV_0000942" "" "0000020311" "0" "55" "3" "48894361" "48894361" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-11-01 15:03:17" "SLC25A20_000028" "g.48894361A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020311" "" "0000020312" "0" "33" "3" "48894445" "48894445" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:11:07" "SLC25A20_000029" "g.48894445C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020312" "" "0000020313" "0" "00" "3" "48894565" "48894566" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:11:08" "SLC25A20_000030" "g.48894565_48894566insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020313" "" "0000020314" "0" "00" "3" "48894566" "48894566" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:11:09" "SLC25A20_000031" "g.48894566del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020314" "" "0000020315" "0" "55" "3" "48894667" "48894667" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:11:38" "SLC25A20_000032" "g.48894667C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020315" "" "0000020316" "0" "55" "3" "48894784" "48894784" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:11:39" "SLC25A20_000033" "g.48894784G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020316" "" "0000020317" "0" "55" "3" "48894786" "48894786" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:11:40" "SLC25A20_000034" "g.48894786G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020317" "" "0000020318" "0" "55" "3" "48894869" "48894869" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:11:42" "SLC25A20_000035" "g.48894869G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020318" "" "0000020319" "0" "55" "3" "48895028" "48895028" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:16" "SLC25A20_000019" "g.48895028C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020319" "" "0000020320" "0" "99" "3" "48895151" "48895152" "ins" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-10 10:26:56" "SLC25A20_000008" "g.48895151_48895152insG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000935" "" "0000020321" "0" "00" "3" "48896002" "48896004" "del" "35" "0.0000798722" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:18" "SLC25A20_000020" "g.48896002_48896004del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020321" "" "0000020322" "0" "33" "3" "48896010" "48896010" "subst" "35" "0.00384438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:20" "SLC25A20_000021" "g.48896010C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020322" "" "0000020323" "0" "99" "3" "48896530" "48896530" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:21" "SLC25A20_000001" "g.48896530T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000936" "" "0000020324" "0" "99" "3" "48897020" "48897020" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:23" "SLC25A20_000002" "g.48897020C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000937" "" "0000020325" "0" "33" "3" "48899969" "48899969" "subst" "35" "0.000384438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:24" "SLC25A20_000022" "g.48899969G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020325" "" "0000020326" "0" "99" "3" "48900004" "48900005" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:26" "SLC25A20_000023" "g.48900004_48900005insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020326" "" "0000020327" "0" "99" "3" "48900014" "48900014" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:27" "SLC25A20_000003" "g.48900014G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000938" "" "0000020328" "0" "55" "3" "48916850" "48916850" "subst" "35" "0.000538213" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:29" "SLC25A20_000024" "g.48916850A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020328" "" "0000020329" "0" "99" "3" "48921429" "48921527" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-08-12 16:59:03" "SLC25A20_000026" "g.48921429_48921527del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020329" "" "0000020330" "0" "99" "3" "48921429" "48921429" "del" "51" "0.0000798722" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 03:15:00" "SLC25A20_000025" "g.48921429del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020330" "" "0000020331" "0" "99" "3" "48921464" "48921464" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:32" "SLC25A20_000027" "g.48921464T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020331" "" "0000020332" "0" "99" "3" "48921567" "48921567" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:34" "SLC25A20_000005" "g.48921567A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000940" "" "0000020333" "0" "99" "3" "48929507" "48929507" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:41" "SLC25A20_000006" "g.48929507T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000941" "" "0000020334" "0" "00" "3" "48936112" "48936113" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:43" "SLC25A20_000015" "g.48936112_48936113insCCTC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020334" "" "0000020335" "0" "99" "3" "48936144" "48936144" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:45" "SLC25A20_000007" "g.48936144del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000942" "" "0000020336" "0" "55" "3" "48936229" "48936229" "subst" "35" "0.000154919" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:46" "SLC25A20_000016" "g.48936229G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020336" "" "0000020337" "0" "55" "3" "48936236" "48936236" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:48" "SLC25A20_000017" "g.48936236C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020337" "" "0000020338" "0" "77" "3" "48936239" "48936239" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:49" "SLC25A20_000018" "g.48936239C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020338" "" "0000020339" "0" "55" "3" "48936293" "48936293" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:35:16" "SLC25A20_000012" "g.48936293A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020339" "" "0000020340" "0" "55" "3" "48936298" "48936298" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:35:17" "SLC25A20_000013" "g.48936298C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020340" "" "0000020341" "0" "55" "3" "48936307" "48936307" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 03:15:00" "SLC25A20_000014" "g.48936307C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020341" "" "0000020342" "0" "55" "3" "48936343" "48936343" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 03:15:00" "SLC25A20_000009" "g.48936343G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020342" "" "0000020343" "0" "55" "3" "48936357" "48936357" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:42:29" "SLC25A20_000010" "g.48936357G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020343" "" "0000020344" "0" "55" "3" "48936422" "48936422" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-06-20 20:05:01" "SLC25A20_000011" "g.48936422T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020344" "" "0000026061" "0" "00" "3" "48899978" "48899978" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:56:48" "SLC25A20_000038" "g.48899978G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026062" "0" "00" "3" "48900085" "48900085" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:56:54" "SLC25A20_000039" "g.48900085G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026063" "0" "00" "3" "48929404" "48929404" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:57:00" "SLC25A20_000040" "g.48929404T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026064" "0" "00" "3" "48936140" "48936140" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:24:12" "SLC25A20_000037" "g.48936140G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026065" "0" "00" "3" "48936218" "48936218" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 22:20:40" "SLC25A20_000036" "g.48936218G>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 = 47 "{{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}}" "0000000935" "00001158" "55" "898" "0" "897" "0" "c.897_898insC" "" "p.(Asn300Glnfs*24)" "r.(?)" "" "" "" "" "" "-" "0000000936" "00001158" "99" "713" "0" "713" "0" "c.713A>G" "7/9" "p.(Gln238Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000937" "00001158" "55" "576" "0" "576" "0" "c.576G>A" "6/9" "p.(Trp192*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000938" "00001158" "99" "496" "0" "496" "0" "c.496C>T" "5/9" "p.(Arg166*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000939" "00001158" "00" "326" "0" "199" "0" "c.199_326del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000000940" "00001158" "55" "199" "-10" "199" "-10" "c.199-10T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000941" "00001158" "55" "106" "-2" "106" "-2" "c.106-2A>T" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000000942" "00001158" "55" "84" "0" "84" "0" "c.84del" "" "p.(His29Thrfs*100)" "r.(?)" "" "" "" "" "" "-" "0000020311" "00001158" "00" "1688" "0" "1688" "0" "c.*782T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020312" "00001158" "00" "1604" "0" "1604" "0" "c.*698G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020313" "00001158" "00" "1483" "0" "1484" "0" "c.*577_*578insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020314" "00001158" "00" "1483" "0" "1483" "0" "c.*577del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020315" "00001158" "00" "1382" "0" "1382" "0" "c.*476G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020316" "00001158" "00" "1265" "0" "1265" "0" "c.*359C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020317" "00001158" "00" "1263" "0" "1263" "0" "c.*357C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020318" "00001158" "00" "1180" "0" "1180" "0" "c.*274C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020319" "00001158" "00" "1021" "0" "1021" "0" "c.*115G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020320" "00001158" "00" "897" "0" "898" "0" "c.897_898insC" "" "p.(Asn300Glnfs*24)" "r.(?)" "" "" "" "" "" "-" "0000020321" "00001158" "00" "779" "0" "781" "0" "c.779_781del" "" "p.(Glu260del)" "r.(?)" "" "" "" "" "" "-" "0000020322" "00001158" "00" "773" "0" "773" "0" "c.773G>A" "" "p.(Arg258Gln)" "r.(?)" "" "" "" "" "" "-" "0000020323" "00001158" "00" "713" "0" "713" "0" "c.713A>G" "" "p.(Gln238Arg)" "r.(?)" "" "" "" "" "" "-" "0000020324" "00001158" "00" "576" "0" "576" "0" "c.576G>A" "" "p.(Trp192*)" "r.(?)" "" "" "" "" "" "-" "0000020325" "00001158" "00" "535" "6" "535" "6" "c.535+6C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020326" "00001158" "00" "505" "0" "506" "0" "c.505_506insT" "" "p.(Tyr169Leufs*15)" "r.(?)" "" "" "" "" "" "-" "0000020327" "00001158" "00" "496" "0" "496" "0" "c.496C>T" "" "p.(Arg166*)" "r.(?)" "" "" "" "" "" "-" "0000020328" "00001158" "00" "358" "0" "358" "0" "c.358T>C" "" "p.(Ser120Pro)" "r.(?)" "" "" "" "" "" "-" "0000020329" "00001158" "00" "229" "0" "326" "1" "c.229_326+1del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020330" "00001158" "00" "326" "1" "326" "1" "c.326+1del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020331" "00001158" "00" "292" "0" "292" "0" "c.292A>T" "" "p.(Lys98*)" "r.(?)" "" "" "" "" "" "-" "0000020332" "00001158" "00" "199" "-10" "199" "-10" "c.199-10T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020333" "00001158" "00" "106" "-2" "106" "-2" "c.106-2A>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020334" "00001158" "00" "105" "10" "105" "11" "c.105+10_105+11insGAGG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020335" "00001158" "00" "84" "0" "84" "0" "c.84del" "" "p.(His29Thrfs*100)" "r.(?)" "" "" "" "" "" "-" "0000020336" "00001158" "00" "-2" "0" "-2" "0" "c.-2C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020337" "00001158" "00" "-9" "0" "-9" "0" "c.-9G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020338" "00001158" "00" "-12" "0" "-12" "0" "c.-12G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020339" "00001158" "00" "-66" "0" "-66" "0" "c.-66T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020340" "00001158" "00" "-71" "0" "-71" "0" "c.-71G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020341" "00001158" "00" "-80" "0" "-80" "0" "c.-80G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020342" "00001158" "00" "-116" "0" "-116" "0" "c.-116C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020343" "00001158" "00" "-130" "0" "-130" "0" "c.-130C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020344" "00001158" "00" "-195" "0" "-195" "0" "c.-195A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026061" "00001158" "00" "532" "0" "532" "0" "c.532C>T" "" "p.(Arg178*)" "r.(?)" "" "" "" "" "" "-" "0000026062" "00001158" "00" "425" "0" "425" "0" "c.425C>G" "" "p.(Ala142Gly)" "r.(?)" "" "" "" "" "" "-" "0000026063" "00001158" "00" "198" "9" "198" "9" "c.198+9A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026064" "00001158" "00" "88" "0" "88" "0" "c.88C>G" "" "p.(Pro30Ala)" "r.(?)" "" "" "" "" "" "-" "0000026065" "00001158" "00" "10" "0" "10" "0" "c.10C>T" "" "p.(Gln4*)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0