### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MRPS16) # 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}}" "MRPS16" "mitochondrial ribosomal protein S16" "10" "q22.1" "unknown" "NC_000010.10" "UD_132085394926" "" "" "" "1" "1" "14048" "51021" "609204" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:50:45" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "{{chrom}}" "00000175" "MRPS16" "mitochondrial ribosomal protein S16" "001" "NM_016065.3" "" "NP_057149.1" "" "" "" "-211" "2423" "414" "75012451" "75008601" "00001" "2013-11-07 13:54:53" "" "" "" "10" ## 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}}" "00096" "COXPD2" "Combined oxidative phosphorylation deficiency 2, 610498 (3)" "610498" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MRPS16" "00096" ## 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 = 52 "{{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}}" "0000000230" "0" "99" "10" "75010693" "75010693" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-07-01 18:23:04" "MRPS16_000001" "g.75010693G>A" "" "{PMID:15505824:15505824}" "" "rs104894168" "subst" "0" "; clinVar; Ensembl;" "3.790" "" "" "" "" "MSCV_0000230" "" "0000016242" "0" "99" "10" "75010693" "75010693" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-09-12 16:16:46" "MRPS16_000001" "g.75010693G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000230" "" "0000023975" "0" "00" "10" "75008750" "75008750" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:07:39" "DNAJC9-AS1_000050" "g.75008750C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023976" "0" "00" "10" "75008849" "75008849" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:54:44" "DNAJC9-AS1_000048" "g.75008849T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023977" "0" "00" "10" "75009100" "75009100" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:44:00" "DNAJC9-AS1_000001" "g.75009100del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023978" "0" "00" "10" "75009107" "75009107" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:44:16" "DNAJC9-AS1_000002" "g.75009107T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023979" "0" "00" "10" "75009107" "75009107" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:44:32" "DNAJC9-AS1_000003" "g.75009107T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023980" "0" "00" "10" "75009199" "75009201" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:44:47" "DNAJC9-AS1_000004" "g.75009199_75009201del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023981" "0" "00" "10" "75009219" "75009219" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:45:32" "DNAJC9-AS1_000005" "g.75009219C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023982" "0" "00" "10" "75009315" "75009315" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:45:47" "DNAJC9-AS1_000006" "g.75009315A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023983" "0" "00" "10" "75009317" "75009319" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:46:02" "DNAJC9-AS1_000007" "g.75009317_75009319del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023984" "0" "00" "10" "75009460" "75009460" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:46:18" "DNAJC9-AS1_000008" "g.75009460C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023985" "0" "00" "10" "75009536" "75009536" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:46:33" "DNAJC9-AS1_000009" "g.75009536T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023986" "0" "00" "10" "75009631" "75009631" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:46:49" "DNAJC9-AS1_000010" "g.75009631G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023987" "0" "00" "10" "75009688" "75009688" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:47:04" "DNAJC9-AS1_000011" "g.75009688C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023988" "0" "00" "10" "75009754" "75009756" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:47:19" "DNAJC9-AS1_000012" "g.75009754_75009756del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023989" "0" "00" "10" "75009868" "75009868" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:47:34" "DNAJC9-AS1_000013" "g.75009868C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023990" "0" "00" "10" "75009869" "75009869" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-12 06:57:38" "DNAJC9-AS1_000014" "g.75009869T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023991" "0" "00" "10" "75009870" "75009870" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:48:05" "DNAJC9-AS1_000015" "g.75009870C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023992" "0" "00" "10" "75009968" "75009968" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:48:20" "DNAJC9-AS1_000016" "g.75009968A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023993" "0" "00" "10" "75009976" "75009977" "ins" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-29 19:13:17" "DNAJC9-AS1_000017" "g.75009976_75009977insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023994" "0" "00" "10" "75010010" "75010010" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:48:50" "DNAJC9-AS1_000018" "g.75010010T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023995" "0" "00" "10" "75010017" "75010017" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:49:06" "DNAJC9-AS1_000019" "g.75010017T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023996" "0" "00" "10" "75010044" "75010044" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:49:21" "DNAJC9-AS1_000020" "g.75010044T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023997" "0" "00" "10" "75010081" "75010081" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:49:36" "DNAJC9-AS1_000021" "g.75010081T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023998" "0" "00" "10" "75010108" "75010108" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:49:52" "DNAJC9-AS1_000022" "g.75010108C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023999" "0" "00" "10" "75010137" "75010137" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:50:07" "DNAJC9-AS1_000023" "g.75010137C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024000" "0" "00" "10" "75010138" "75010138" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:50:22" "DNAJC9-AS1_000024" "g.75010138G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024001" "0" "00" "10" "75010160" "75010160" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:50:38" "DNAJC9-AS1_000025" "g.75010160del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024002" "0" "00" "10" "75010330" "75010330" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:55:00" "DNAJC9-AS1_000049" "g.75010330G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024003" "0" "00" "10" "75010489" "75010489" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:52:11" "DNAJC9-AS1_000047" "g.75010489C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024004" "0" "00" "10" "75010545" "75010545" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:46:22" "DNAJC9-AS1_000026" "g.75010545C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024005" "0" "00" "10" "75010597" "75010597" "subst" "35" "0.052668" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:46:44" "DNAJC9-AS1_000027" "g.75010597A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024006" "0" "00" "10" "75010635" "75010635" "subst" "35" "0.00384438" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:47:06" "DNAJC9-AS1_000028" "g.75010635G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024007" "0" "00" "10" "75010754" "75010754" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:47:28" "DNAJC9-AS1_000029" "g.75010754A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024008" "0" "00" "10" "75010756" "75010756" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:47:50" "DNAJC9-AS1_000030" "g.75010756G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024009" "0" "00" "10" "75011548" "75011548" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:48:12" "DNAJC9-AS1_000031" "g.75011548G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024010" "0" "00" "10" "75011683" "75011683" "subst" "35" "0.000615101" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:48:35" "DNAJC9-AS1_000032" "g.75011683G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024011" "0" "00" "10" "75011699" "75011699" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:48:57" "DNAJC9-AS1_000033" "g.75011699G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024012" "0" "00" "10" "75011732" "75011732" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:49:19" "DNAJC9-AS1_000034" "g.75011732A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024013" "0" "00" "10" "75011736" "75011736" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:49:41" "DNAJC9-AS1_000035" "g.75011736C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024014" "0" "00" "10" "75011761" "75011761" "subst" "35" "0.0545133" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:50:03" "DNAJC9-AS1_000036" "g.75011761A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024015" "0" "00" "10" "75011779" "75011779" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:50:26" "DNAJC9-AS1_000037" "g.75011779T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024016" "0" "00" "10" "75011793" "75011793" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:50:48" "DNAJC9-AS1_000038" "g.75011793C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024017" "0" "00" "10" "75012248" "75012248" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:51:10" "DNAJC9-AS1_000039" "g.75012248C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024018" "0" "00" "10" "75012322" "75012323" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:51:32" "DNAJC9-AS1_000040" "g.75012322_75012323del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024019" "0" "00" "10" "75012335" "75012335" "subst" "35" "0.0375411" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:51:54" "DNAJC9-AS1_000041" "g.75012335C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024020" "0" "00" "10" "75012343" "75012343" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:52:17" "DNAJC9-AS1_000042" "g.75012343C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024021" "0" "00" "10" "75012358" "75012360" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:52:39" "DNAJC9-AS1_000043" "g.75012358_75012360del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024022" "0" "00" "10" "75012374" "75012374" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:53:01" "DNAJC9-AS1_000044" "g.75012374G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024023" "0" "00" "10" "75012387" "75012387" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:53:16" "DNAJC9-AS1_000045" "g.75012387G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024024" "0" "00" "10" "75012423" "75012423" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:53:31" "DNAJC9-AS1_000046" "g.75012423T>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 = 52 "{{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}}" "0000000230" "00000175" "99" "331" "0" "331" "0" "c.331C>T" "3/3" "p.?" "r.?" "-" "" "stop_gained" "" "" "-" "0000016242" "00000175" "00" "331" "0" "331" "0" "c.331C>T" "" "p.(Arg111*)" "r.(?)" "" "" "" "" "" "-" "0000023975" "00000175" "00" "2274" "0" "2274" "0" "c.*1860G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023976" "00000175" "00" "2175" "0" "2175" "0" "c.*1761A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023977" "00000175" "00" "1924" "0" "1924" "0" "c.*1510del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023978" "00000175" "00" "1917" "0" "1917" "0" "c.*1503A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023979" "00000175" "00" "1917" "0" "1917" "0" "c.*1503A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023980" "00000175" "00" "1823" "0" "1825" "0" "c.*1409_*1411del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023981" "00000175" "00" "1805" "0" "1805" "0" "c.*1391G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023982" "00000175" "00" "1709" "0" "1709" "0" "c.*1295T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023983" "00000175" "00" "1705" "0" "1707" "0" "c.*1291_*1293del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023984" "00000175" "00" "1564" "0" "1564" "0" "c.*1150G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023985" "00000175" "00" "1488" "0" "1488" "0" "c.*1074A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023986" "00000175" "00" "1393" "0" "1393" "0" "c.*979C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023987" "00000175" "00" "1336" "0" "1336" "0" "c.*922G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023988" "00000175" "00" "1268" "0" "1270" "0" "c.*854_*856del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023989" "00000175" "00" "1156" "0" "1156" "0" "c.*742G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023990" "00000175" "00" "1155" "0" "1155" "0" "c.*741A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023991" "00000175" "00" "1154" "0" "1154" "0" "c.*740G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023992" "00000175" "00" "1056" "0" "1056" "0" "c.*642T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023993" "00000175" "00" "1047" "0" "1048" "0" "c.*633_*634insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023994" "00000175" "00" "1014" "0" "1014" "0" "c.*600A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023995" "00000175" "00" "1007" "0" "1007" "0" "c.*593A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023996" "00000175" "00" "980" "0" "980" "0" "c.*566A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023997" "00000175" "00" "943" "0" "943" "0" "c.*529A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023998" "00000175" "00" "916" "0" "916" "0" "c.*502G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023999" "00000175" "00" "887" "0" "887" "0" "c.*473G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024000" "00000175" "00" "886" "0" "886" "0" "c.*472C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024001" "00000175" "00" "864" "0" "864" "0" "c.*450del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024002" "00000175" "00" "694" "0" "694" "0" "c.*280C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024003" "00000175" "00" "535" "0" "535" "0" "c.*121G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024004" "00000175" "00" "479" "0" "479" "0" "c.*65G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024005" "00000175" "00" "427" "0" "427" "0" "c.*13T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024006" "00000175" "00" "389" "0" "389" "0" "c.389C>G" "" "p.(Thr130Arg)" "r.(?)" "" "" "" "" "" "-" "0000024007" "00000175" "00" "275" "-5" "275" "-5" "c.275-5T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024008" "00000175" "00" "275" "-7" "275" "-7" "c.275-7C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024009" "00000175" "00" "247" "0" "247" "0" "c.247C>A" "" "p.(Leu83Ile)" "r.(?)" "" "" "" "" "" "-" "0000024010" "00000175" "00" "112" "0" "112" "0" "c.112C>A" "" "p.(His38Asn)" "r.(?)" "" "" "" "" "" "-" "0000024011" "00000175" "00" "96" "0" "96" "0" "c.96C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024012" "00000175" "00" "63" "0" "63" "0" "c.63T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024013" "00000175" "00" "59" "0" "59" "0" "c.59G>A" "" "p.(Arg20His)" "r.(?)" "" "" "" "" "" "-" "0000024014" "00000175" "00" "34" "0" "34" "0" "c.34T>C" "" "p.(Tyr12His)" "r.(?)" "" "" "" "" "" "-" "0000024015" "00000175" "00" "16" "0" "16" "0" "c.16A>C" "" "p.(Thr6Pro)" "r.(?)" "" "" "" "" "" "-" "0000024016" "00000175" "00" "14" "-12" "14" "-12" "c.14-12G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024017" "00000175" "00" "-8" "0" "-8" "0" "c.-8G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024018" "00000175" "00" "-83" "0" "-82" "0" "c.-83_-82del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024019" "00000175" "00" "-95" "0" "-95" "0" "c.-95G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024020" "00000175" "00" "-103" "0" "-103" "0" "c.-103G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024021" "00000175" "00" "-120" "0" "-118" "0" "c.-120_-118del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024022" "00000175" "00" "-134" "0" "-134" "0" "c.-134C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024023" "00000175" "00" "-147" "0" "-147" "0" "c.-147C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024024" "00000175" "00" "-183" "0" "-183" "0" "c.-183A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0