### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RARS2) # 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}}" "RARS2" "arginyl-tRNA synthetase 2, mitochondrial" "6" "q16.1" "unknown" "NC_000006.11" "UD_138312971578" "" "" "" "1" "1" "21406" "57038" "611524" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:50:45" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00000272" "RARS2" "transcript variant X2" "001" "XM_005248736.1" "" "XP_005248793.1" "" "" "" "-710" "1687" "1212" "88299695" "88223656" "00001" "2013-11-07 13:58:35" "" "" "" "6" "00000273" "RARS2" "transcript variant X1" "002" "XM_005248735.1" "" "XP_005248792.1" "" "" "" "-766" "1687" "1212" "88299695" "88223656" "00001" "2013-11-07 13:58:35" "" "" "" "6" "00000274" "RARS2" "transcript variant X3" "003" "XM_005248737.1" "" "XP_005248794.1" "" "" "" "-487" "1687" "1212" "88299693" "88223656" "00001" "2013-11-07 13:58:35" "" "" "" "6" "00000275" "RARS2" "arginyl-tRNA synthetase 2, mitochondrial" "004" "NM_020320.3" "" "NP_064716.2" "" "" "" "-60" "1772" "1737" "88299735" "88224096" "00001" "2013-11-07 13:58:35" "" "" "" "6" "00000276" "RARS2" "transcript variant X4" "005" "XR_241848.1" "" "" "" "" "" "1" "1819" "1819" "88299735" "88224105" "00001" "2013-11-07 13:58:35" "" "" "" "6" ## 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}}" "00420" "PCH6" "PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6" "611523" "" "" "" "00001" "2014-04-08 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RARS2" "00420" ## 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 = 21 "{{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}}" "0000001200" "0" "99" "6" "88231193" "88231193" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-03-15 22:25:12" "RARS2_000001" "g.88231193T>C" "" "{PMID:20635367:20635367}" "" "rs387907048" "subst" "0" "; clinVar;" "4.660" "" "" "" "" "MSCV_0001200" "" "0000001201" "0" "99" "6" "88299641" "88299641" "subst" "51" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 07:39:56" "RARS2_000002" "g.88299641T>C" "" "{PMID:20635367:20635367}" "" "rs147391618" "subst" "0" "; clinVar;" "3.970" "" "" "" "" "MSCV_0001201" "" "0000003335" "0" "55" "6" "88279230" "88279230" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-02-13 16:33:41" "RARS2_000003" "g.88279230T>C" "" "" "" "rs63749985" "subst" "0" ";" "5.450" "" "" "" "" "MSCV_0003335" "" "0000021729" "0" "99" "6" "88224713" "88224713" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:19:32" "RARS2_000010" "g.88224713del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021729" "" "0000021730" "0" "77" "6" "88226566" "88226566" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:19:12" "RARS2_000007" "g.88226566T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021730" "" "0000021731" "0" "99" "6" "88229300" "88229300" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:20:45" "RARS2_000008" "g.88229300C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021731" "" "0000021732" "0" "77" "6" "88229955" "88229956" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:19:28" "RARS2_000009" "g.88229955_88229956del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021732" "" "0000021733" "0" "99" "6" "88231193" "88231193" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:18:38" "RARS2_000001" "g.88231193T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001200" "" "0000021734" "0" "99" "6" "88258341" "88258341" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-12-09 12:01:42" "RARS2_000004" "g.88258341A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021734" "" "0000021735" "0" "77" "6" "88265151" "88265151" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 07:39:56" "RARS2_000005" "g.88265151del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021735" "" "0000021736" "0" "00" "6" "88273872" "88273872" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:19:03" "RARS2_000006" "g.88273872del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021736" "" "0000021737" "0" "55" "6" "88299641" "88299641" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:18:53" "RARS2_000002" "g.88299641T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001201" "" "0000026534" "0" "00" "6" "88224189" "88224189" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:42:10" "RARS2_000018" "g.88224189C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026535" "0" "00" "6" "88224670" "88224670" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:42:34" "RARS2_000019" "g.88224670C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026536" "0" "00" "6" "88228358" "88228358" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:11:51" "RARS2_000012" "g.88228358G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026537" "0" "00" "6" "88239290" "88239290" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2020-06-07 23:11:04" "RARS2_000013" "g.88239290A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026538" "0" "00" "6" "88239320" "88239320" "subst" "35" "0.000692414" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:12:59" "RARS2_000014" "g.88239320C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026539" "0" "00" "6" "88239365" "88239365" "subst" "35" "0.000385089" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:13:30" "RARS2_000015" "g.88239365C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026540" "0" "00" "6" "88258318" "88258318" "subst" "35" "0.000538213" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:14:04" "RARS2_000016" "g.88258318T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026541" "0" "00" "6" "88272503" "88272503" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:14:33" "RARS2_000017" "g.88272503G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026542" "0" "00" "6" "88299675" "88299675" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-06-01 00:23:13" "RARS2_000011" "g.88299675T>C" "" "" "" "" "" "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 = 105 "{{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}}" "0000001200" "00000272" "99" "499" "0" "499" "0" "c.499A>G" "11/19" "p.(Met167Val)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001200" "00000273" "99" "499" "0" "499" "0" "c.499A>G" "11/19" "p.(Met167Val)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001200" "00000274" "99" "499" "0" "499" "0" "c.499A>G" "11/19" "p.(Met167Val)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001200" "00000275" "99" "1024" "0" "1024" "0" "c.1024A>G" "12/20" "p.(Met342Val)" "r.(?)" "benign(0.37)" "" "missense_variant" "" "" "deleterious(0.02)" "0000001200" "00000276" "99" "1084" "0" "1084" "0" "n.1084A>G" "" "" "" "" "" "" "" "" "-" "0000001201" "00000272" "99" "-656" "0" "-656" "0" "c.-656A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001201" "00000273" "99" "-712" "0" "-712" "0" "c.-712A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001201" "00000274" "99" "-435" "0" "-435" "0" "c.-435A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001201" "00000275" "99" "35" "0" "35" "0" "c.35A>G" "1/20" "p.(Gln12Arg)" "r.(?)" "benign(0.004)" "" "missense_variant,splice_region_variant" "" "" "tolerated(0.12)" "0000001201" "00000276" "99" "95" "0" "95" "0" "n.95A>G" "" "" "" "" "" "" "" "" "-" "0000003335" "00000272" "55" "-360" "5" "-360" "5" "c.-360+5A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003335" "00000273" "55" "-416" "5" "-416" "5" "c.-416+5A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003335" "00000274" "55" "-360" "5" "-360" "5" "c.-360+5A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003335" "00000275" "55" "110" "5" "110" "5" "c.110+5A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000003335" "00000276" "55" "170" "5" "170" "5" "n.170+5A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021729" "00000272" "00" "1087" "0" "1087" "0" "c.1087del" "" "p.(Thr363Hisfs*4)" "r.(?)" "" "" "" "" "" "-" "0000021729" "00000273" "00" "1087" "0" "1087" "0" "c.1087del" "" "p.(Thr363Hisfs*4)" "r.(?)" "" "" "" "" "" "-" "0000021729" "00000274" "00" "1087" "0" "1087" "0" "c.1087del" "" "p.(Thr363Hisfs*4)" "r.(?)" "" "" "" "" "" "-" "0000021729" "00000275" "00" "1612" "0" "1612" "0" "c.1612del" "" "p.(Thr538Hisfs*4)" "r.(?)" "" "" "" "" "" "-" "0000021729" "00000276" "00" "1668" "0" "1668" "0" "n.1668del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021730" "00000272" "00" "1019" "0" "1019" "0" "c.1019A>G" "" "p.(Asp340Gly)" "r.(?)" "" "" "" "" "" "-" "0000021730" "00000273" "00" "1019" "0" "1019" "0" "c.1019A>G" "" "p.(Asp340Gly)" "r.(?)" "" "" "" "" "" "-" "0000021730" "00000274" "00" "1019" "0" "1019" "0" "c.1019A>G" "" "p.(Asp340Gly)" "r.(?)" "" "" "" "" "" "-" "0000021730" "00000275" "00" "1544" "0" "1544" "0" "c.1544A>G" "" "p.(Asp515Gly)" "r.(?)" "" "" "" "" "" "-" "0000021730" "00000276" "00" "1600" "0" "1600" "0" "n.1600A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021731" "00000272" "00" "712" "1" "712" "1" "c.712+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021731" "00000273" "00" "712" "1" "712" "1" "c.712+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021731" "00000274" "00" "712" "1" "712" "1" "c.712+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021731" "00000275" "00" "1237" "1" "1237" "1" "c.1237+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021731" "00000276" "00" "1293" "1" "1293" "1" "n.1293+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021732" "00000272" "00" "529" "0" "530" "0" "c.529_530del" "" "p.(Lys177Alafs*15)" "r.(?)" "" "" "" "" "" "-" "0000021732" "00000273" "00" "529" "0" "530" "0" "c.529_530del" "" "p.(Lys177Alafs*15)" "r.(?)" "" "" "" "" "" "-" "0000021732" "00000274" "00" "529" "0" "530" "0" "c.529_530del" "" "p.(Lys177Alafs*15)" "r.(?)" "" "" "" "" "" "-" "0000021732" "00000275" "00" "1054" "0" "1055" "0" "c.1054_1055del" "" "p.(Lys352Alafs*15)" "r.(?)" "" "" "" "" "" "-" "0000021732" "00000276" "00" "1110" "0" "1111" "0" "n.1110_1111del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021733" "00000272" "00" "499" "0" "499" "0" "c.499A>G" "" "p.(Met167Val)" "r.(?)" "" "" "" "" "" "-" "0000021733" "00000273" "00" "499" "0" "499" "0" "c.499A>G" "" "p.(Met167Val)" "r.(?)" "" "" "" "" "" "-" "0000021733" "00000274" "00" "499" "0" "499" "0" "c.499A>G" "" "p.(Met167Val)" "r.(?)" "" "" "" "" "" "-" "0000021733" "00000275" "00" "1024" "0" "1024" "0" "c.1024A>G" "" "p.(Met342Val)" "r.(?)" "" "" "" "" "" "-" "0000021733" "00000276" "00" "1084" "0" "1084" "0" "n.1084A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021734" "00000272" "00" "-74" "-2924" "-74" "-2924" "c.-74-2924T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021734" "00000273" "00" "-107" "0" "-107" "0" "c.-107T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021734" "00000274" "00" "-74" "-2924" "-74" "-2924" "c.-74-2924T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021734" "00000275" "00" "419" "0" "419" "0" "c.419T>G" "" "p.(Phe140Cys)" "r.(?)" "" "" "" "" "" "-" "0000021734" "00000276" "00" "479" "0" "479" "0" "n.479T>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021735" "00000272" "00" "-100" "0" "-100" "0" "c.-100del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021735" "00000273" "00" "-156" "0" "-156" "0" "c.-156del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021735" "00000274" "00" "-100" "0" "-100" "0" "c.-100del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021735" "00000275" "00" "370" "0" "370" "0" "c.370del" "" "p.(Gln124Argfs*27)" "r.(?)" "" "" "" "" "" "-" "0000021735" "00000276" "00" "430" "0" "430" "0" "n.430del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021736" "00000272" "00" "-281" "0" "-281" "0" "c.-281del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021736" "00000273" "00" "-337" "0" "-337" "0" "c.-337del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021736" "00000274" "00" "-281" "0" "-281" "0" "c.-281del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021736" "00000275" "00" "189" "0" "189" "0" "c.189del" "" "p.(Gln64Lysfs*5)" "r.(?)" "" "" "" "" "" "-" "0000021736" "00000276" "00" "249" "0" "249" "0" "n.249del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021737" "00000272" "00" "-656" "0" "-656" "0" "c.-656A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021737" "00000273" "00" "-712" "0" "-712" "0" "c.-712A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021737" "00000274" "00" "-435" "0" "-435" "0" "c.-435A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021737" "00000275" "00" "35" "0" "35" "0" "c.35A>G" "" "p.(Gln12Arg)" "r.(?)" "" "" "" "" "" "-" "0000021737" "00000276" "00" "95" "0" "95" "0" "n.95A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026534" "00000272" "00" "1154" "0" "1154" "0" "c.1154G>A" "" "p.(Arg385His)" "r.(?)" "" "" "" "" "" "-" "0000026534" "00000273" "00" "1154" "0" "1154" "0" "c.1154G>A" "" "p.(Arg385His)" "r.(?)" "" "" "" "" "" "-" "0000026534" "00000274" "00" "1154" "0" "1154" "0" "c.1154G>A" "" "p.(Arg385His)" "r.(?)" "" "" "" "" "" "-" "0000026534" "00000275" "00" "1679" "0" "1679" "0" "c.1679G>A" "" "p.(Arg560His)" "r.(?)" "" "" "" "" "" "-" "0000026534" "00000276" "00" "1735" "0" "1735" "0" "n.1735G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026535" "00000272" "00" "1125" "5" "1125" "5" "c.1125+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026535" "00000273" "00" "1125" "5" "1125" "5" "c.1125+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026535" "00000274" "00" "1125" "5" "1125" "5" "c.1125+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026535" "00000275" "00" "1650" "5" "1650" "5" "c.1650+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026535" "00000276" "00" "1706" "5" "1706" "5" "n.1706+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026536" "00000272" "00" "880" "0" "880" "0" "c.880C>T" "" "p.(Arg294Cys)" "r.(?)" "" "" "" "" "" "-" "0000026536" "00000273" "00" "880" "0" "880" "0" "c.880C>T" "" "p.(Arg294Cys)" "r.(?)" "" "" "" "" "" "-" "0000026536" "00000274" "00" "880" "0" "880" "0" "c.880C>T" "" "p.(Arg294Cys)" "r.(?)" "" "" "" "" "" "-" "0000026536" "00000275" "00" "1405" "0" "1405" "0" "c.1405C>T" "" "p.(Arg469Cys)" "r.(?)" "" "" "" "" "" "-" "0000026536" "00000276" "00" "1461" "0" "1461" "0" "n.1461C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026537" "00000272" "00" "323" "0" "323" "0" "c.323T>A" "" "p.(Leu108Gln)" "r.(?)" "" "" "" "" "" "-" "0000026537" "00000273" "00" "323" "0" "323" "0" "c.323T>A" "" "p.(Leu108Gln)" "r.(?)" "" "" "" "" "" "-" "0000026537" "00000274" "00" "323" "0" "323" "0" "c.323T>A" "" "p.(Leu108Gln)" "r.(?)" "" "" "" "" "" "-" "0000026537" "00000275" "00" "848" "0" "848" "0" "c.848T>A" "" "p.(Leu283Gln)" "r.(?)" "" "" "" "" "" "-" "0000026537" "00000276" "00" "908" "0" "908" "0" "n.908T>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026538" "00000272" "00" "293" "0" "293" "0" "c.293G>T" "" "p.(Arg98Leu)" "r.(?)" "" "" "" "" "" "-" "0000026538" "00000273" "00" "293" "0" "293" "0" "c.293G>T" "" "p.(Arg98Leu)" "r.(?)" "" "" "" "" "" "-" "0000026538" "00000274" "00" "293" "0" "293" "0" "c.293G>T" "" "p.(Arg98Leu)" "r.(?)" "" "" "" "" "" "-" "0000026538" "00000275" "00" "818" "0" "818" "0" "c.818G>T" "" "p.(Arg273Leu)" "r.(?)" "" "" "" "" "" "-" "0000026538" "00000276" "00" "878" "0" "878" "0" "n.878G>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026539" "00000272" "00" "248" "0" "248" "0" "c.248G>A" "" "p.(Arg83His)" "r.(?)" "" "" "" "" "" "-" "0000026539" "00000273" "00" "248" "0" "248" "0" "c.248G>A" "" "p.(Arg83His)" "r.(?)" "" "" "" "" "" "-" "0000026539" "00000274" "00" "248" "0" "248" "0" "c.248G>A" "" "p.(Arg83His)" "r.(?)" "" "" "" "" "" "-" "0000026539" "00000275" "00" "773" "0" "773" "0" "c.773G>A" "" "p.(Arg258His)" "r.(?)" "" "" "" "" "" "-" "0000026539" "00000276" "00" "833" "0" "833" "0" "n.833G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026540" "00000272" "00" "-74" "-2901" "-74" "-2901" "c.-74-2901A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026540" "00000273" "00" "-84" "0" "-84" "0" "c.-84A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026540" "00000274" "00" "-74" "-2901" "-74" "-2901" "c.-74-2901A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026540" "00000275" "00" "442" "0" "442" "0" "c.442A>G" "" "p.(Thr148Ala)" "r.(?)" "" "" "" "" "" "-" "0000026540" "00000276" "00" "502" "0" "502" "0" "n.502A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026541" "00000272" "00" "-256" "0" "-256" "0" "c.-256C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026541" "00000273" "00" "-312" "0" "-312" "0" "c.-312C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026541" "00000274" "00" "-256" "0" "-256" "0" "c.-256C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026541" "00000275" "00" "214" "0" "214" "0" "c.214C>G" "" "p.(Leu72Val)" "r.(?)" "" "" "" "" "" "-" "0000026541" "00000276" "00" "274" "0" "274" "0" "n.274C>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026542" "00000272" "00" "-690" "0" "-690" "0" "c.-690A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026542" "00000273" "00" "-746" "0" "-746" "0" "c.-746A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026542" "00000274" "00" "-469" "0" "-469" "0" "c.-469A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026542" "00000275" "00" "1" "0" "1" "0" "c.1A>G" "" "p.?" "r.?" "" "" "" "" "" "-" "0000026542" "00000276" "00" "61" "0" "61" "0" "n.61A>G" "" "-" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0