### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = C10orf2) # 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}}" "C10orf2" "chromosome 10 open reading frame 2" "10" "q24" "unknown" "NC_000010.10" "UD_138385354024" "" "" "" "1" "1" "1160" "56652" "606075" "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 " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:44:12" "" "" "" "" "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}}" "00000057" "C10orf2" "transcript variant 2" "001" "NM_001163812.1" "" "NP_001157284.1" "" "" "" "-675" "2990" "1749" "102747293" "102754158" "00001" "2013-11-07 13:45:45" "" "" "" "10" "00000058" "C10orf2" "transcript variant 1" "002" "NM_021830.4" "" "NP_068602.2" "" "" "" "-675" "2946" "2055" "102747293" "102754158" "00001" "2013-11-07 13:45:45" "" "" "" "10" "00000059" "C10orf2" "transcript variant 4" "003" "NM_001163814.1" "" "NP_001157286.1" "" "" "" "-197" "1628" "387" "102747293" "102754158" "00001" "2013-11-07 13:45:45" "" "" "" "10" "00000060" "C10orf2" "transcript variant 3" "004" "NM_001163813.1" "" "NP_001157285.1" "" "" "" "-197" "1584" "693" "102747293" "102754158" "00001" "2013-11-07 13:45:45" "" "" "" "10" "00000061" "C10orf2" "transcript variant X1" "005" "XR_246100.1" "" "" "" "" "" "1" "3241" "3241" "102747794" "102754159" "00001" "2013-11-07 13:45:45" "" "" "" "10" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00031" "MTDPS3" "Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3)" "251880" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" "00036" "MTDPS7" "Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)" "271245" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" "00042" "SANDO" "Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3)" "607459" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" "00074" "PEOA3" "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3; PEOA3" "609286" "" "" "" "00001" "2013-11-13 09:40:15" "00001" "2013-11-13 15:38:39" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "C10orf2" "00031" "C10orf2" "00036" "C10orf2" "00042" "C10orf2" "00074" ## 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 = 101 "{{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}}" "0000000232" "0" "77" "10" "102748214" "102748214" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:05:46" "C10orf2_000022" "g.102748214C>T" "" "{PMID:22928142:22928142}" "" "rs386834147" "subst" "0" "; clinVar; ensembl;" "5.590" "" "" "" "" "MSCV_0000232" "" "0000000233" "0" "99" "10" "102748875" "102748875" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:05:46" "C10orf2_000023" "g.102748875G>A" "" "{PMID:19353676:19353676}" "" "rs137852956" "subst" "0" "; clinVar; Ensembl;" "5.900" "" "" "" "" "MSCV_0000233" "" "0000000234" "0" "99" "10" "102748911" "102748911" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 10:12:09" "C10orf2_000020" "g.102748911G>A" "" "{PMID:11431692:11431692}" "" "rs111033575" "subst" "0" "; clinVar; Ensembl;" "5.900" "" "" "" "" "MSCV_0000234" "" "0000000235" "0" "99" "10" "102748911" "102748911" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:01:21" "C10orf2_000021" "g.102748911G>T" "" "{PMID:11431692:11431692}" "" "rs111033575" "subst" "0" ";" "5.900" "" "" "" "" "MSCV_0000235" "" "0000000237" "0" "99" "10" "102748919" "102748919" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:51" "C10orf2_000011" "g.102748919G>A" "" "{PMID:20301746:20301746};{PMID:17921179:17921179}" "" "rs80356542" "subst" "0" "; clinVar; Ensembl;" "5.900" "" "" "" "" "MSCV_0000237" "" "0000000238" "0" "99" "10" "102748922" "102748922" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-05-29 01:21:02" "C10orf2_000012" "g.102748922A>C" "" "{PMID:15668446:15668446};{PMID:20301746:20301746}" "" "rs80356543" "subst" "0" "; clinVar; Ensembl;" "5.900" "" "" "" "" "MSCV_0000238" "" "0000000239" "0" "99" "10" "102748922" "102748922" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:52" "C10orf2_000013" "g.102748922A>G" "" "{PMID:15668446:15668446};{PMID:20301746:20301746}" "" "rs80356543" "subst" "0" "; clinvar; ensembl;" "5.900" "" "" "" "" "MSCV_0000239" "" "0000000241" "0" "99" "10" "102749028" "102749028" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:37:48" "C10orf2_000014" "g.102749028G>C" "" "{PMID:11431692:11431692}" "" "rs111033576" "subst" "0" "; clinVar; Ensembl;" "4.030" "" "" "" "" "MSCV_0000241" "" "0000000242" "0" "99" "10" "102749042" "102749042" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:37:49" "C10orf2_000015" "g.102749042G>A" "" "{PMID:11431692:11431692};{PMID:20659899:20659899}" "" "rs111033573" "subst" "0" "; clinVar; Ensembl;" "5.900" "" "" "" "" "MSCV_0000242" "" "0000000244" "0" "99" "10" "102749042" "102749042" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:37:49" "C10orf2_000016" "g.102749042G>T" "" "{PMID:11431692:11431692};{PMID:20659899:20659899}" "" "rs111033573" "subst" "0" ";" "5.900" "" "" "" "" "MSCV_0000244" "" "0000000245" "0" "99" "10" "102749073" "102749073" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:37:49" "C10orf2_000017" "g.102749073C>A" "" "{PMID:12163192:12163192}" "" "rs111033579" "subst" "0" "; clinVar; Ensembl;" "6.030" "" "" "" "" "MSCV_0000245" "" "0000000247" "0" "99" "10" "102749073" "102749073" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-05-07 22:49:45" "C10orf2_000018" "g.102749073C>T" "" "{PMID:12163192:12163192}" "" "rs111033579" "subst" "0" ";" "6.030" "" "" "" "" "MSCV_0000247" "" "0000000248" "0" "99" "10" "102749087" "102749087" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:37:50" "C10orf2_000019" "g.102749087C>T" "" "{PMID:19513767:19513767}" "" "rs267606682" "subst" "0" "; clinVar; Ensembl;" "4.040" "" "" "" "" "MSCV_0000248" "" "0000000249" "0" "99" "10" "102749109" "102749109" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-02-09 13:08:55" "C10orf2_000001" "g.102749109T>C" "" "{PMID:11431692:11431692};{PMID:20659899:20659899}" "" "rs111033577" "subst" "0" "; clinVar; Ensembl;" "6.030" "" "" "" "" "MSCV_0000249" "" "0000000251" "0" "99" "10" "102749109" "102749109" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-05-01 04:31:58" "C10orf2_000002" "g.102749109T>G" "" "{PMID:11431692:11431692};{PMID:20659899:20659899}" "" "rs111033577" "subst" "0" ";" "6.030" "" "" "" "" "MSCV_0000251" "" "0000000252" "0" "99" "10" "102749444" "102749444" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 10:12:09" "C10orf2_000003" "g.102749444C>T" "" "{PMID:16135556:16135556};{PMID:20301746:20301746}" "" "rs80356541" "subst" "0" "; clinVar; Ensembl;" "2.790" "" "" "" "" "MSCV_0000252" "" "0000000253" "0" "77" "10" "102749523" "102749523" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:37:51" "C10orf2_000004" "g.102749523C>G" "" "{PMID:22353293:22353293}" "" "rs386834145" "subst" "0" "; clinVar; ensembl;" "6.040" "" "" "" "" "MSCV_0000253" "" "0000000254" "0" "99" "10" "102749527" "102749527" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-02-15 23:03:07" "C10orf2_000005" "g.102749527C>T" "" "{PMID:17722119:17722119};{PMID:20301746:20301746}" "" "rs80356544" "subst" "0" "; clinVar; Ensembl;" "6.040" "" "" "" "" "MSCV_0000254" "" "0000000255" "0" "77" "10" "102749544" "102749544" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:37:52" "C10orf2_000006" "g.102749544C>T" "" "{PMID:22928142:22928142}" "" "rs386834146" "subst" "0" "; clinVar; ensembl;" "3.030" "" "" "" "" "MSCV_0000255" "" "0000000256" "0" "99" "10" "102749579" "102749579" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:37:52" "C10orf2_000007" "g.102749579G>A" "" "{PMID:11431692:11431692}" "" "rs111033574" "subst" "0" "; clinVar; Ensembl;" "6.040" "" "" "" "" "MSCV_0000256" "" "0000000257" "0" "99" "10" "102749579" "102749579" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:37:52" "C10orf2_000008" "g.102749579G>T" "" "{PMID:11431692:11431692}" "" "rs111033574" "subst" "0" ";" "6.040" "" "" "" "" "MSCV_0000257" "" "0000000258" "0" "99" "10" "102749580" "102749580" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-13 06:03:02" "C10orf2_000009" "g.102749580G>C" "" "{PMID:10522883:10522883};{PMID:11431692:11431692}" "" "rs111033572" "subst" "0" "; clinVar; Ensembl;" "6.040" "" "" "" "" "MSCV_0000258" "" "0000000259" "0" "99" "10" "102750231" "102750231" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:37:53" "C10orf2_000010" "g.102750231A>G" "" "{PMID:17921179:17921179};{PMID:20301746:20301746};{PMID:16135556:16135556}" "" "rs80356540" "subst" "0" "; clinVar; Ensembl;" "5.730" "" "" "" "" "MSCV_0000259" "" "0000001850" "0" "99" "10" "102748968" "102748968" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2016-10-12 12:33:30" "C10orf2_000024" "g.102748968G>A" "" "{PMID:12872260:12872260}" "" "rs28937887" "subst" "0" "; clinVar; Ensembl;" "4.940" "" "" "" "" "MSCV_0001850" "" "0000016323" "0" "55" "10" "102748214" "102748214" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:46:38" "C10orf2_000022" "g.102748214C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000232" "" "0000016324" "0" "00" "10" "102748298" "102748298" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:46:43" "C10orf2_000031" "g.102748298del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016324" "" "0000016325" "0" "77" "10" "102748871" "102748871" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:46:58" "C10orf2_000032" "g.102748871C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016325" "" "0000016326" "0" "99" "10" "102748875" "102748875" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:47:17" "C10orf2_000023" "g.102748875G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000233" "" "0000016327" "0" "99" "10" "102748911" "102748911" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:47:23" "C10orf2_000021" "g.102748911G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000235" "" "0000016328" "0" "99" "10" "102748919" "102748919" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:47:28" "C10orf2_000011" "g.102748919G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000237" "" "0000016329" "0" "99" "10" "102748922" "102748922" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-13 05:22:42" "C10orf2_000013" "g.102748922A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000239" "" "0000016330" "0" "99" "10" "102748968" "102748968" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:16:14" "C10orf2_000024" "g.102748968G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001850" "" "0000016331" "0" "77" "10" "102748970" "102748970" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:07:06" "C10orf2_000029" "g.102748970C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016331" "" "0000016332" "0" "99" "10" "102749019" "102749019" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:07:10" "C10orf2_000030" "g.102749019A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016332" "" "0000016333" "0" "99" "10" "102749028" "102749028" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:04:40" "C10orf2_000014" "g.102749028G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000241" "" "0000016334" "0" "99" "10" "102749042" "102749042" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:05:22" "C10orf2_000015" "g.102749042G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000242" "" "0000016335" "0" "99" "10" "102749073" "102749073" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:05:27" "C10orf2_000017" "g.102749073C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000245" "" "0000016336" "0" "77" "10" "102749087" "102749087" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:05:31" "C10orf2_000019" "g.102749087C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000248" "" "0000016337" "0" "99" "10" "102749088" "102749088" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-07 01:07:30" "C10orf2_000027" "g.102749088G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016337" "" "0000016338" "0" "99" "10" "102749109" "102749109" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:05:40" "C10orf2_000001" "g.102749109T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000249" "" "0000016339" "0" "77" "10" "102749163" "102749163" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:05:44" "C10orf2_000028" "g.102749163A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016339" "" "0000016340" "0" "99" "10" "102749444" "102749444" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:05:48" "C10orf2_000003" "g.102749444C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000252" "" "0000016341" "0" "77" "10" "102749523" "102749523" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:02:44" "C10orf2_000004" "g.102749523C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000253" "" "0000016342" "0" "99" "10" "102749527" "102749527" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-12 18:00:42" "C10orf2_000005" "g.102749527C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000254" "" "0000016343" "0" "99" "10" "102749531" "102749531" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:02:54" "C10orf2_000026" "g.102749531G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016343" "" "0000016344" "0" "77" "10" "102749544" "102749544" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:02:59" "C10orf2_000006" "g.102749544C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000255" "" "0000016345" "0" "99" "10" "102749548" "102749548" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:49:27" "C10orf2_000025" "g.102749548T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016345" "" "0000016346" "0" "99" "10" "102749579" "102749579" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-13 00:47:43" "C10orf2_000007" "g.102749579G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000256" "" "0000016347" "0" "99" "10" "102749580" "102749580" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-05-12 22:53:34" "C10orf2_000009" "g.102749580G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000258" "" "0000016348" "0" "99" "10" "102750231" "102750231" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:49:41" "C10orf2_000010" "g.102750231A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000259" "" "0000024034" "0" "00" "10" "102747318" "102747318" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:21:19" "C10orf2_000083" "g.102747318A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024035" "0" "00" "10" "102747324" "102747324" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:59:12" "C10orf2_000082" "g.102747324A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024036" "0" "00" "10" "102747363" "102747363" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:43:46" "C10orf2_000077" "g.102747363G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024037" "0" "00" "10" "102747383" "102747383" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-06-20 15:57:48" "C10orf2_000078" "g.102747383T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024038" "0" "00" "10" "102747419" "102747419" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:44:29" "C10orf2_000079" "g.102747419G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024039" "0" "00" "10" "102747498" "102747498" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:45:05" "C10orf2_000080" "g.102747498G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024040" "0" "00" "10" "102747545" "102747545" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:45:26" "C10orf2_000081" "g.102747545C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024041" "0" "00" "10" "102747661" "102747662" "del" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-04 04:32:11" "C10orf2_000073" "g.102747661_102747662del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024042" "0" "00" "10" "102747678" "102747678" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:04:39" "C10orf2_000074" "g.102747678G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024043" "0" "00" "10" "102747727" "102747727" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-04 04:32:11" "C10orf2_000033" "g.102747727C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024044" "0" "00" "10" "102747863" "102747863" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:46:34" "C10orf2_000034" "g.102747863T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024045" "0" "00" "10" "102748043" "102748043" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:46:53" "C10orf2_000035" "g.102748043G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024046" "0" "00" "10" "102748044" "102748044" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-05-18 01:07:30" "C10orf2_000036" "g.102748044G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024047" "0" "00" "10" "102748241" "102748241" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-04 04:32:11" "C10orf2_000037" "g.102748241G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024048" "0" "00" "10" "102748243" "102748243" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-05-18 00:59:18" "C10orf2_000038" "g.102748243C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024049" "0" "00" "10" "102748351" "102748351" "subst" "35" "0.000230663" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:48:07" "C10orf2_000039" "g.102748351C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024050" "0" "00" "10" "102748459" "102748459" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:48:25" "C10orf2_000040" "g.102748459C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024051" "0" "00" "10" "102748606" "102748606" "subst" "35" "0.00138398" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:48:44" "C10orf2_000041" "g.102748606C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024052" "0" "00" "10" "102748889" "102748889" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-05-18 06:59:15" "C10orf2_000042" "g.102748889T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024053" "0" "00" "10" "102749009" "102749009" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:49:21" "C10orf2_000043" "g.102749009G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024054" "0" "00" "10" "102749037" "102749037" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-23 10:12:09" "C10orf2_000044" "g.102749037G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024055" "0" "00" "10" "102749068" "102749068" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-05-17 08:31:41" "C10orf2_000045" "g.102749068C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024056" "0" "00" "10" "102749069" "102749069" "subst" "51" "0.0535907" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-23 10:12:09" "C10orf2_000046" "g.102749069G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024057" "0" "00" "10" "102749139" "102749139" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-05-18 21:29:07" "C10orf2_000047" "g.102749139G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024058" "0" "00" "10" "102750196" "102750196" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:50:52" "C10orf2_000048" "g.102750196T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024059" "0" "00" "10" "102750235" "102750235" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:51:13" "C10orf2_000049" "g.102750235C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024060" "0" "00" "10" "102750621" "102750621" "subst" "35" "0.258189" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:51:31" "C10orf2_000050" "g.102750621C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024061" "0" "00" "10" "102750623" "102750623" "subst" "35" "0.255728" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:52:06" "C10orf2_000051" "g.102750623T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024062" "0" "00" "10" "102750730" "102750730" "subst" "35" "0.00199908" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:52:24" "C10orf2_000052" "g.102750730A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024063" "0" "00" "10" "102752933" "102752933" "subst" "35" "0.000922651" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:53:07" "C10orf2_000053" "g.102752933C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024064" "0" "00" "10" "102753065" "102753065" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:53:27" "C10orf2_000054" "g.102753065C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024065" "0" "00" "10" "102753187" "102753187" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:53:45" "C10orf2_000055" "g.102753187G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024066" "0" "00" "10" "102753257" "102753257" "subst" "35" "0.000384438" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-05-07 04:48:07" "C10orf2_000056" "g.102753257G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024067" "0" "00" "10" "102753262" "102753262" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-05-07 09:16:06" "C10orf2_000057" "g.102753262A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024068" "0" "00" "10" "102753471" "102753471" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:05:01" "C10orf2_000075" "g.102753471G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024069" "0" "00" "10" "102753501" "102753501" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:05:27" "C10orf2_000076" "g.102753501T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024070" "0" "00" "10" "102753568" "102753568" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:36:12" "C10orf2_000058" "g.102753568C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024071" "0" "00" "10" "102753634" "102753634" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-05-17 03:21:34" "C10orf2_000059" "g.102753634A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024072" "0" "00" "10" "102753686" "102753686" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-05-18 01:07:02" "C10orf2_000060" "g.102753686A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024073" "0" "00" "10" "102753705" "102753705" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:37:07" "C10orf2_000061" "g.102753705G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024074" "0" "00" "10" "102753722" "102753722" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:37:27" "C10orf2_000062" "g.102753722C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024075" "0" "00" "10" "102753738" "102753739" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:37:45" "C10orf2_000063" "g.102753738_102753739del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024076" "0" "00" "10" "102753788" "102753788" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:38:03" "C10orf2_000064" "g.102753788C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024077" "0" "00" "10" "102753822" "102753822" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:38:21" "C10orf2_000065" "g.102753822G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024078" "0" "00" "10" "102753841" "102753841" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:38:40" "C10orf2_000066" "g.102753841C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024079" "0" "00" "10" "102753886" "102753886" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:38:58" "C10orf2_000067" "g.102753886G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024080" "0" "00" "10" "102753976" "102753976" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:39:16" "C10orf2_000068" "g.102753976C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024081" "0" "00" "10" "102754014" "102754014" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-05-17 06:47:30" "C10orf2_000069" "g.102754014C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024082" "0" "00" "10" "102754030" "102754030" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-05-18 01:04:56" "C10orf2_000070" "g.102754030T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024083" "0" "00" "10" "102754033" "102754033" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:40:11" "C10orf2_000071" "g.102754033A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024084" "0" "00" "10" "102754070" "102754070" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:40:29" "C10orf2_000072" "g.102754070A>G" "" "" "" "" "" "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 = 505 "{{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}}" "0000000232" "00000057" "77" "247" "0" "247" "0" "c.247C>T" "1/5" "p.(Pro83Ser)" "r.(?)" "possibly_damaging(0.772)" "" "missense_variant" "" "" "deleterious(0.04)" "0000000232" "00000058" "77" "247" "0" "247" "0" "c.247C>T" "1/5" "p.(Pro83Ser)" "r.(?)" "possibly_damaging(0.772)" "" "missense_variant" "" "" "deleterious(0.04)" "0000000232" "00000059" "77" "-120" "844" "-120" "844" "c.-120+844C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000232" "00000060" "77" "-120" "844" "-120" "844" "c.-120+844C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000232" "00000061" "77" "421" "0" "421" "0" "n.421C>T" "" "" "" "" "" "" "" "" "-" "0000000233" "00000057" "99" "908" "0" "908" "0" "c.908G>A" "1/5" "p.(Arg303Gln)" "r.(?)" "possibly_damaging(0.684)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000233" "00000058" "99" "908" "0" "908" "0" "c.908G>A" "1/5" "p.(Arg303Gln)" "r.(?)" "possibly_damaging(0.684)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000233" "00000059" "99" "-119" "-526" "-119" "-526" "c.-119-526G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000233" "00000060" "99" "-119" "-526" "-119" "-526" "c.-119-526G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000233" "00000061" "99" "1082" "0" "1082" "0" "n.1082G>A" "" "" "" "" "" "" "" "" "-" "0000000234" "00000057" "99" "944" "0" "944" "0" "c.944G>A" "1/5" "p.(Trp315*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000234" "00000058" "99" "944" "0" "944" "0" "c.944G>A" "1/5" "p.(Trp315*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000234" "00000059" "99" "-119" "-490" "-119" "-490" "c.-119-490G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000234" "00000060" "99" "-119" "-490" "-119" "-490" "c.-119-490G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000234" "00000061" "99" "1118" "0" "1118" "0" "n.1118G>A" "" "" "" "" "" "" "" "" "-" "0000000235" "00000057" "00" "944" "0" "944" "0" "c.944G>T" "1/5" "p.(Trp315Leu)" "r.(?)" "benign(0.167)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000235" "00000058" "00" "944" "0" "944" "0" "c.944G>T" "1/5" "p.(Trp315Leu)" "r.(?)" "benign(0.167)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000235" "00000059" "00" "-119" "-490" "-119" "-490" "c.-119-490G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000235" "00000060" "00" "-119" "-490" "-119" "-490" "c.-119-490G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000235" "00000061" "00" "1118" "0" "1118" "0" "n.1118G>T" "" "" "" "" "" "" "" "" "-" "0000000237" "00000057" "99" "952" "0" "952" "0" "c.952G>A" "1/5" "p.(Ala318Thr)" "r.(?)" "possibly_damaging(0.877)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000237" "00000058" "99" "952" "0" "952" "0" "c.952G>A" "1/5" "p.(Ala318Thr)" "r.(?)" "possibly_damaging(0.877)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000237" "00000059" "99" "-119" "-482" "-119" "-482" "c.-119-482G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000237" "00000060" "99" "-119" "-482" "-119" "-482" "c.-119-482G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000237" "00000061" "99" "1126" "0" "1126" "0" "n.1126G>A" "" "" "" "" "" "" "" "" "-" "0000000238" "00000057" "99" "955" "0" "955" "0" "c.955A>C" "1/5" "p.(Lys319Gln)" "r.(?)" "possibly_damaging(0.823)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000238" "00000058" "99" "955" "0" "955" "0" "c.955A>C" "1/5" "p.(Lys319Gln)" "r.(?)" "possibly_damaging(0.823)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000238" "00000059" "99" "-119" "-479" "-119" "-479" "c.-119-479A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000238" "00000060" "99" "-119" "-479" "-119" "-479" "c.-119-479A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000238" "00000061" "99" "1129" "0" "1129" "0" "n.1129A>C" "" "" "" "" "" "" "" "" "-" "0000000239" "00000057" "99" "955" "0" "955" "0" "c.955A>G" "1/5" "p.(Lys319Glu)" "r.(?)" "possibly_damaging(0.864)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000239" "00000058" "99" "955" "0" "955" "0" "c.955A>G" "1/5" "p.(Lys319Glu)" "r.(?)" "possibly_damaging(0.864)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000239" "00000059" "99" "-119" "-479" "-119" "-479" "c.-119-479A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000239" "00000060" "99" "-119" "-479" "-119" "-479" "c.-119-479A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000239" "00000061" "99" "1129" "0" "1129" "0" "n.1129A>G" "" "" "" "" "" "" "" "" "-" "0000000241" "00000057" "99" "1061" "0" "1061" "0" "c.1061G>C" "1/5" "p.(Arg354Pro)" "r.(?)" "benign(0.016)" "" "missense_variant" "" "" "tolerated(0.23)" "0000000241" "00000058" "99" "1061" "0" "1061" "0" "c.1061G>C" "1/5" "p.(Arg354Pro)" "r.(?)" "benign(0.016)" "" "missense_variant" "" "" "tolerated(0.23)" "0000000241" "00000059" "99" "-119" "-373" "-119" "-373" "c.-119-373G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000241" "00000060" "99" "-119" "-373" "-119" "-373" "c.-119-373G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000241" "00000061" "99" "1235" "0" "1235" "0" "n.1235G>C" "" "" "" "" "" "" "" "" "-" "0000000242" "00000057" "99" "1075" "0" "1075" "0" "c.1075G>A" "1/5" "p.(Ala359Thr)" "r.(?)" "possibly_damaging(0.907)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000242" "00000058" "99" "1075" "0" "1075" "0" "c.1075G>A" "1/5" "p.(Ala359Thr)" "r.(?)" "possibly_damaging(0.907)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000242" "00000059" "99" "-119" "-359" "-119" "-359" "c.-119-359G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000242" "00000060" "99" "-119" "-359" "-119" "-359" "c.-119-359G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000242" "00000061" "99" "1249" "0" "1249" "0" "n.1249G>A" "" "" "" "" "" "" "" "" "-" "0000000244" "00000057" "00" "1075" "0" "1075" "0" "c.1075G>T" "1/5" "p.(Ala359Ser)" "r.(?)" "possibly_damaging(0.54)" "" "missense_variant" "" "" "tolerated(0.19)" "0000000244" "00000058" "00" "1075" "0" "1075" "0" "c.1075G>T" "1/5" "p.(Ala359Ser)" "r.(?)" "possibly_damaging(0.54)" "" "missense_variant" "" "" "tolerated(0.19)" "0000000244" "00000059" "00" "-119" "-359" "-119" "-359" "c.-119-359G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000244" "00000060" "00" "-119" "-359" "-119" "-359" "c.-119-359G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000244" "00000061" "00" "1249" "0" "1249" "0" "n.1249G>T" "" "" "" "" "" "" "" "" "-" "0000000245" "00000057" "99" "1106" "0" "1106" "0" "c.1106C>A" "1/5" "p.(Ser369Tyr)" "r.(?)" "possibly_damaging(0.642)" "" "missense_variant" "" "" "deleterious(0)" "0000000245" "00000058" "99" "1106" "0" "1106" "0" "c.1106C>A" "1/5" "p.(Ser369Tyr)" "r.(?)" "possibly_damaging(0.642)" "" "missense_variant" "" "" "deleterious(0)" "0000000245" "00000059" "99" "-119" "-328" "-119" "-328" "c.-119-328C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000245" "00000060" "99" "-119" "-328" "-119" "-328" "c.-119-328C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000245" "00000061" "99" "1280" "0" "1280" "0" "n.1280C>A" "" "" "" "" "" "" "" "" "-" "0000000247" "00000057" "00" "1106" "0" "1106" "0" "c.1106C>T" "1/5" "p.(Ser369Phe)" "r.(?)" "possibly_damaging(0.898)" "" "missense_variant" "" "" "deleterious(0)" "0000000247" "00000058" "00" "1106" "0" "1106" "0" "c.1106C>T" "1/5" "p.(Ser369Phe)" "r.(?)" "possibly_damaging(0.898)" "" "missense_variant" "" "" "deleterious(0)" "0000000247" "00000059" "00" "-119" "-328" "-119" "-328" "c.-119-328C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000247" "00000060" "00" "-119" "-328" "-119" "-328" "c.-119-328C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000247" "00000061" "00" "1280" "0" "1280" "0" "n.1280C>T" "" "" "" "" "" "" "" "" "-" "0000000248" "00000057" "99" "1120" "0" "1120" "0" "c.1120C>T" "1/5" "p.(Arg374Trp)" "r.(?)" "benign(0.327)" "" "missense_variant" "" "" "deleterious(0)" "0000000248" "00000058" "99" "1120" "0" "1120" "0" "c.1120C>T" "1/5" "p.(Arg374Trp)" "r.(?)" "benign(0.327)" "" "missense_variant" "" "" "deleterious(0)" "0000000248" "00000059" "99" "-119" "-314" "-119" "-314" "c.-119-314C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000248" "00000060" "99" "-119" "-314" "-119" "-314" "c.-119-314C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000248" "00000061" "99" "1294" "0" "1294" "0" "n.1294C>T" "" "" "" "" "" "" "" "" "-" "0000000249" "00000057" "99" "1142" "0" "1142" "0" "c.1142T>C" "1/5" "p.(Leu381Pro)" "r.(?)" "benign(0.236)" "" "missense_variant" "" "" "deleterious(0.03)" "0000000249" "00000058" "99" "1142" "0" "1142" "0" "c.1142T>C" "1/5" "p.(Leu381Pro)" "r.(?)" "benign(0.236)" "" "missense_variant" "" "" "deleterious(0.03)" "0000000249" "00000059" "99" "-119" "-292" "-119" "-292" "c.-119-292T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000249" "00000060" "99" "-119" "-292" "-119" "-292" "c.-119-292T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000249" "00000061" "99" "1316" "0" "1316" "0" "n.1316T>C" "" "" "" "" "" "" "" "" "-" "0000000251" "00000057" "00" "1142" "0" "1142" "0" "c.1142T>G" "1/5" "p.(Leu381Arg)" "r.(?)" "probably_damaging(0.954)" "" "missense_variant" "" "" "deleterious(0)" "0000000251" "00000058" "00" "1142" "0" "1142" "0" "c.1142T>G" "1/5" "p.(Leu381Arg)" "r.(?)" "probably_damaging(0.954)" "" "missense_variant" "" "" "deleterious(0)" "0000000251" "00000059" "00" "-119" "-292" "-119" "-292" "c.-119-292T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000251" "00000060" "00" "-119" "-292" "-119" "-292" "c.-119-292T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000251" "00000061" "00" "1316" "0" "1316" "0" "n.1316T>G" "" "" "" "" "" "" "" "" "-" "0000000252" "00000057" "99" "1287" "0" "1287" "0" "c.1287C>T" "2/5" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000252" "00000058" "99" "1287" "0" "1287" "0" "c.1287C>T" "2/5" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000252" "00000059" "99" "-76" "0" "-76" "0" "c.-76C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000252" "00000060" "99" "-76" "0" "-76" "0" "c.-76C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000252" "00000061" "99" "1461" "0" "1461" "0" "n.1461C>T" "" "" "" "" "" "" "" "" "-" "0000000253" "00000057" "77" "1366" "0" "1366" "0" "c.1366C>G" "2/5" "p.(Leu456Val)" "r.(?)" "possibly_damaging(0.739)" "" "missense_variant" "" "" "deleterious(0)" "0000000253" "00000058" "77" "1366" "0" "1366" "0" "c.1366C>G" "2/5" "p.(Leu456Val)" "r.(?)" "possibly_damaging(0.739)" "" "missense_variant" "" "" "deleterious(0)" "0000000253" "00000059" "77" "4" "0" "4" "0" "c.4C>G" "2/5" "p.(Leu2Val)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000253" "00000060" "77" "4" "0" "4" "0" "c.4C>G" "2/5" "p.(Leu2Val)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000253" "00000061" "77" "1540" "0" "1540" "0" "n.1540C>G" "" "" "" "" "" "" "" "" "-" "0000000254" "00000057" "99" "1370" "0" "1370" "0" "c.1370C>T" "2/5" "p.(Thr457Ile)" "r.(?)" "possibly_damaging(0.703)" "" "missense_variant" "" "" "deleterious(0.04)" "0000000254" "00000058" "99" "1370" "0" "1370" "0" "c.1370C>T" "2/5" "p.(Thr457Ile)" "r.(?)" "possibly_damaging(0.703)" "" "missense_variant" "" "" "deleterious(0.04)" "0000000254" "00000059" "99" "8" "0" "8" "0" "c.8C>T" "2/5" "p.(Thr3Ile)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000254" "00000060" "99" "8" "0" "8" "0" "c.8C>T" "2/5" "p.(Thr3Ile)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000254" "00000061" "99" "1544" "0" "1544" "0" "n.1544C>T" "" "" "" "" "" "" "" "" "-" "0000000255" "00000057" "77" "1387" "0" "1387" "0" "c.1387C>T" "2/5" "p.(Arg463Trp)" "r.(?)" "possibly_damaging(0.846)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000255" "00000058" "77" "1387" "0" "1387" "0" "c.1387C>T" "2/5" "p.(Arg463Trp)" "r.(?)" "possibly_damaging(0.846)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000255" "00000059" "77" "25" "0" "25" "0" "c.25C>T" "2/5" "p.(Arg9Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000255" "00000060" "77" "25" "0" "25" "0" "c.25C>T" "2/5" "p.(Arg9Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000255" "00000061" "77" "1561" "0" "1561" "0" "n.1561C>T" "" "" "" "" "" "" "" "" "-" "0000000256" "00000057" "99" "1422" "0" "1422" "0" "c.1422G>A" "2/5" "p.(Trp474*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000256" "00000058" "99" "1422" "0" "1422" "0" "c.1422G>A" "2/5" "p.(Trp474*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000256" "00000059" "99" "60" "0" "60" "0" "c.60G>A" "2/5" "p.(Trp20*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000256" "00000060" "99" "60" "0" "60" "0" "c.60G>A" "2/5" "p.(Trp20*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000256" "00000061" "99" "1596" "0" "1596" "0" "n.1596G>A" "" "" "" "" "" "" "" "" "-" "0000000257" "00000057" "00" "1422" "0" "1422" "0" "c.1422G>T" "2/5" "p.(Trp474Cys)" "r.(?)" "probably_damaging(0.98)" "" "missense_variant" "" "" "deleterious(0)" "0000000257" "00000058" "00" "1422" "0" "1422" "0" "c.1422G>T" "2/5" "p.(Trp474Cys)" "r.(?)" "probably_damaging(0.98)" "" "missense_variant" "" "" "deleterious(0)" "0000000257" "00000059" "00" "60" "0" "60" "0" "c.60G>T" "2/5" "p.(Trp20Cys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000257" "00000060" "00" "60" "0" "60" "0" "c.60G>T" "2/5" "p.(Trp20Cys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000257" "00000061" "00" "1596" "0" "1596" "0" "n.1596G>T" "" "" "" "" "" "" "" "" "-" "0000000258" "00000057" "99" "1423" "0" "1423" "0" "c.1423G>C" "2/5" "p.(Ala475Pro)" "r.(?)" "probably_damaging(0.972)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000258" "00000058" "99" "1423" "0" "1423" "0" "c.1423G>C" "2/5" "p.(Ala475Pro)" "r.(?)" "probably_damaging(0.972)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000258" "00000059" "99" "61" "0" "61" "0" "c.61G>C" "2/5" "p.(Ala21Pro)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000258" "00000060" "99" "61" "0" "61" "0" "c.61G>C" "2/5" "p.(Ala21Pro)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000258" "00000061" "99" "1597" "0" "1597" "0" "n.1597G>C" "" "" "" "" "" "" "" "" "-" "0000000259" "00000057" "99" "1523" "0" "1523" "0" "c.1523A>G" "3/5" "p.(Tyr508Cys)" "r.(?)" "probably_damaging(0.986)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000259" "00000058" "99" "1523" "0" "1523" "0" "c.1523A>G" "3/5" "p.(Tyr508Cys)" "r.(?)" "probably_damaging(0.986)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000259" "00000059" "99" "161" "0" "161" "0" "c.161A>G" "3/5" "p.(Tyr54Cys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000259" "00000060" "99" "161" "0" "161" "0" "c.161A>G" "3/5" "p.(Tyr54Cys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000259" "00000061" "99" "1697" "0" "1697" "0" "n.1697A>G" "" "" "" "" "" "" "" "" "-" "0000001850" "00000057" "99" "1001" "0" "1001" "0" "c.1001G>A" "1/5" "p.(Arg334Gln)" "r.(?)" "benign(0.158)" "" "missense_variant" "" "" "tolerated(0.06)" "0000001850" "00000058" "99" "1001" "0" "1001" "0" "c.1001G>A" "1/5" "p.(Arg334Gln)" "r.(?)" "benign(0.158)" "" "missense_variant" "" "" "tolerated(0.06)" "0000001850" "00000059" "99" "-119" "-433" "-119" "-433" "c.-119-433G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001850" "00000060" "99" "-119" "-433" "-119" "-433" "c.-119-433G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001850" "00000061" "99" "1175" "0" "1175" "0" "n.1175G>A" "" "" "" "" "" "" "" "" "-" "0000016323" "00000057" "00" "247" "0" "247" "0" "c.247C>T" "" "p.(Pro83Ser)" "r.(?)" "" "" "" "" "" "-" "0000016323" "00000058" "00" "247" "0" "247" "0" "c.247C>T" "" "p.(Pro83Ser)" "r.(?)" "" "" "" "" "" "-" "0000016323" "00000059" "00" "-120" "844" "-120" "844" "c.-120+844C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016323" "00000060" "00" "-120" "844" "-120" "844" "c.-120+844C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016323" "00000061" "00" "421" "0" "421" "0" "n.421C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000016324" "00000057" "00" "331" "0" "331" "0" "c.331del" "" "p.(Leu112Serfs*3)" "r.(?)" "" "" "" "" "" "-" "0000016324" "00000058" "00" "331" "0" "331" "0" "c.331del" "" "p.(Leu112Serfs*3)" "r.(?)" "" "" "" "" "" "-" "0000016324" "00000059" "00" "-120" "928" "-120" "928" "c.-120+928del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016324" "00000060" "00" "-120" "928" "-120" "928" "c.-120+928del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016324" "00000061" "00" "505" "0" "505" "0" "n.505del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000016325" "00000057" "00" "904" "0" "904" "0" "c.904C>T" "" "p.(Arg302Trp)" "r.(?)" 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"" "" "" "" "" "-" "0000016330" "00000058" "00" "1001" "0" "1001" "0" "c.1001G>A" "" "p.(Arg334Gln)" "r.(?)" "" "" "" "" "" "-" "0000016330" "00000059" "00" "-119" "-433" "-119" "-433" "c.-119-433G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016330" "00000060" "00" "-119" "-433" "-119" "-433" "c.-119-433G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016330" "00000061" "00" "1175" "0" "1175" "0" "n.1175G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000016331" "00000057" "00" "1003" "0" "1003" "0" "c.1003C>A" "" "p.(Pro335Thr)" "r.(?)" "" "" "" "" "" "-" "0000016331" "00000058" "00" "1003" "0" "1003" "0" "c.1003C>A" "" "p.(Pro335Thr)" "r.(?)" "" "" "" "" "" "-" "0000016331" "00000059" "00" "-119" "-431" "-119" "-431" "c.-119-431C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016331" "00000060" "00" "-119" "-431" "-119" "-431" "c.-119-431C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016331" "00000061" "00" "1177" "0" "1177" "0" "n.1177C>A" "" "-" "r.(?)" 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"" "" "" "" "" "-" "0000016333" "00000059" "00" "-119" "-373" "-119" "-373" "c.-119-373G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016333" "00000060" "00" "-119" "-373" "-119" "-373" "c.-119-373G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016333" "00000061" "00" "1235" "0" "1235" "0" "n.1235G>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000016334" "00000057" "00" "1075" "0" "1075" "0" "c.1075G>A" "" "p.(Ala359Thr)" "r.(?)" "" "" "" "" "" "-" "0000016334" "00000058" "00" "1075" "0" "1075" "0" "c.1075G>A" "" "p.(Ala359Thr)" "r.(?)" "" "" "" "" "" "-" "0000016334" "00000059" "00" "-119" "-359" "-119" "-359" "c.-119-359G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016334" "00000060" "00" "-119" "-359" "-119" "-359" "c.-119-359G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016334" "00000061" "00" "1249" "0" "1249" "0" "n.1249G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000016335" "00000057" "00" "1106" "0" "1106" "0" "c.1106C>A" "" "p.(Ser369Tyr)" "r.(?)" "" "" "" "" "" "-" "0000016335" "00000058" "00" "1106" "0" "1106" "0" "c.1106C>A" "" "p.(Ser369Tyr)" "r.(?)" "" "" "" "" "" "-" "0000016335" "00000059" "00" "-119" "-328" "-119" "-328" "c.-119-328C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016335" "00000060" "00" "-119" "-328" "-119" "-328" "c.-119-328C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016335" "00000061" "00" "1280" "0" "1280" "0" "n.1280C>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000016336" "00000057" "00" "1120" "0" "1120" "0" "c.1120C>T" "" "p.(Arg374Trp)" "r.(?)" "" "" "" "" "" "-" "0000016336" "00000058" "00" "1120" "0" "1120" "0" "c.1120C>T" "" "p.(Arg374Trp)" "r.(?)" "" "" "" "" "" "-" "0000016336" "00000059" "00" "-119" "-314" "-119" "-314" "c.-119-314C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016336" "00000060" "00" "-119" "-314" "-119" "-314" "c.-119-314C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016336" "00000061" "00" "1294" "0" "1294" "0" "n.1294C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000016337" "00000057" "00" "1121" "0" "1121" "0" "c.1121G>A" "" "p.(Arg374Gln)" "r.(?)" "" "" "" "" "" "-" "0000016337" "00000058" "00" "1121" "0" "1121" "0" "c.1121G>A" "" "p.(Arg374Gln)" "r.(?)" "" "" "" "" "" "-" "0000016337" "00000059" "00" "-119" "-313" "-119" "-313" "c.-119-313G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016337" "00000060" "00" "-119" "-313" "-119" "-313" "c.-119-313G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016337" "00000061" "00" "1295" "0" "1295" "0" "n.1295G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000016338" "00000057" "00" "1142" "0" "1142" "0" "c.1142T>C" "" "p.(Leu381Pro)" "r.(?)" "" "" "" "" "" "-" "0000016338" "00000058" "00" "1142" "0" "1142" "0" "c.1142T>C" "" "p.(Leu381Pro)" "r.(?)" "" "" "" "" "" "-" "0000016338" "00000059" "00" "-119" "-292" "-119" "-292" "c.-119-292T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016338" "00000060" "00" "-119" "-292" "-119" "-292" "c.-119-292T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016338" "00000061" "00" "1316" "0" "1316" "0" "n.1316T>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000016339" "00000057" "00" "1196" "0" "1196" "0" "c.1196A>G" "" "p.(Asn399Ser)" "r.(?)" "" "" "" "" "" "-" "0000016339" "00000058" "00" "1196" "0" "1196" "0" "c.1196A>G" "" "p.(Asn399Ser)" "r.(?)" "" "" "" "" "" "-" "0000016339" "00000059" "00" "-119" "-238" "-119" "-238" "c.-119-238A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016339" "00000060" "00" "-119" "-238" "-119" "-238" "c.-119-238A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016339" "00000061" "00" "1370" "0" "1370" "0" "n.1370A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000016340" "00000057" "00" "1287" "0" "1287" "0" "c.1287C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016340" "00000058" "00" "1287" "0" "1287" "0" "c.1287C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016340" "00000059" "00" "-76" "0" "-76" "0" "c.-76C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016340" "00000060" "00" "-76" "0" "-76" "0" "c.-76C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016340" "00000061" "00" "1461" "0" "1461" "0" "n.1461C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000016341" "00000057" "00" "1366" "0" "1366" "0" "c.1366C>G" "" "p.(Leu456Val)" "r.(?)" "" "" "" "" "" "-" "0000016341" "00000058" "00" "1366" "0" "1366" "0" "c.1366C>G" "" "p.(Leu456Val)" "r.(?)" "" "" "" "" "" "-" "0000016341" "00000059" "00" "4" "0" "4" "0" "c.4C>G" "" "p.(Leu2Val)" "r.(?)" "" "" "" "" "" "-" "0000016341" "00000060" "00" "4" "0" "4" "0" "c.4C>G" "" "p.(Leu2Val)" "r.(?)" "" "" "" "" "" "-" "0000016341" "00000061" "00" "1540" "0" "1540" "0" "n.1540C>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000016342" "00000057" "00" "1370" "0" "1370" "0" "c.1370C>T" "" "p.(Thr457Ile)" "r.(?)" "" "" "" "" "" "-" "0000016342" "00000058" "00" "1370" "0" "1370" "0" "c.1370C>T" "" "p.(Thr457Ile)" "r.(?)" "" "" "" "" "" "-" "0000016342" "00000059" "00" "8" "0" "8" "0" "c.8C>T" "" "p.(Thr3Ile)" "r.(?)" "" "" "" "" "" "-" "0000016342" "00000060" "00" "8" "0" "8" "0" "c.8C>T" "" "p.(Thr3Ile)" "r.(?)" "" "" "" "" "" "-" "0000016342" "00000061" "00" "1544" "0" "1544" "0" "n.1544C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000016343" "00000057" "00" "1374" "0" "1374" "0" "c.1374G>T" "" "p.(Gln458His)" "r.(?)" "" "" "" "" "" "-" "0000016343" "00000058" "00" "1374" "0" "1374" "0" "c.1374G>T" "" "p.(Gln458His)" "r.(?)" "" "" "" "" "" "-" "0000016343" "00000059" "00" "12" "0" "12" "0" "c.12G>T" "" "p.(Gln4His)" "r.(?)" "" "" "" "" "" "-" "0000016343" "00000060" "00" "12" "0" "12" "0" "c.12G>T" "" "p.(Gln4His)" "r.(?)" "" "" "" "" "" "-" "0000016343" "00000061" "00" "1548" "0" "1548" "0" "n.1548G>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000016344" "00000057" "00" "1387" "0" "1387" "0" "c.1387C>T" "" "p.(Arg463Trp)" "r.(?)" "" "" "" "" "" "-" "0000016344" "00000058" "00" "1387" "0" "1387" "0" "c.1387C>T" "" "p.(Arg463Trp)" "r.(?)" "" "" "" "" "" "-" "0000016344" "00000059" "00" "25" "0" "25" "0" "c.25C>T" "" "p.(Arg9Trp)" "r.(?)" "" "" "" "" "" "-" "0000016344" "00000060" "00" "25" "0" "25" "0" "c.25C>T" "" "p.(Arg9Trp)" "r.(?)" "" "" "" "" "" "-" "0000016344" "00000061" "00" "1561" "0" "1561" "0" "n.1561C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000016345" "00000057" "00" "1391" "0" "1391" "0" "c.1391T>C" "" "p.(Leu464Pro)" "r.(?)" "" "" "" "" "" "-" "0000016345" "00000058" "00" "1391" "0" "1391" "0" "c.1391T>C" "" "p.(Leu464Pro)" "r.(?)" "" "" "" "" "" "-" "0000016345" "00000059" "00" "29" "0" "29" "0" "c.29T>C" "" "p.(Leu10Pro)" "r.(?)" "" "" "" "" "" "-" "0000016345" "00000060" "00" "29" "0" "29" "0" "c.29T>C" "" "p.(Leu10Pro)" "r.(?)" "" "" "" "" "" "-" "0000016345" "00000061" "00" "1565" "0" "1565" "0" "n.1565T>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000016346" "00000057" "00" "1422" "0" "1422" "0" "c.1422G>A" "" "p.(Trp474*)" "r.(?)" "" "" "" "" "" "-" "0000016346" "00000058" "00" "1422" "0" "1422" "0" "c.1422G>A" "" "p.(Trp474*)" "r.(?)" "" "" "" "" "" "-" "0000016346" "00000059" "00" "60" "0" "60" "0" "c.60G>A" "" "p.(Trp20*)" "r.(?)" "" "" "" "" "" "-" "0000016346" "00000060" "00" "60" "0" "60" "0" "c.60G>A" "" "p.(Trp20*)" "r.(?)" "" "" "" "" "" "-" "0000016346" "00000061" "00" "1596" "0" "1596" "0" "n.1596G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000016347" "00000057" "00" "1423" "0" "1423" "0" "c.1423G>C" "" "p.(Ala475Pro)" "r.(?)" "" "" "" "" "" "-" "0000016347" "00000058" "00" "1423" "0" "1423" "0" "c.1423G>C" "" "p.(Ala475Pro)" "r.(?)" "" "" "" "" "" "-" "0000016347" "00000059" "00" "61" "0" "61" "0" "c.61G>C" "" "p.(Ala21Pro)" "r.(?)" "" "" "" "" "" "-" "0000016347" "00000060" "00" "61" "0" "61" "0" "c.61G>C" "" "p.(Ala21Pro)" "r.(?)" "" "" "" "" "" "-" "0000016347" "00000061" "00" "1597" "0" "1597" "0" "n.1597G>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000016348" "00000057" "00" "1523" "0" "1523" "0" "c.1523A>G" "" "p.(Tyr508Cys)" "r.(?)" "" "" "" "" "" "-" "0000016348" "00000058" "00" "1523" "0" "1523" "0" "c.1523A>G" "" "p.(Tyr508Cys)" "r.(?)" "" "" "" "" "" "-" "0000016348" "00000059" "00" "161" "0" "161" "0" "c.161A>G" "" "p.(Tyr54Cys)" "r.(?)" "" "" "" "" "" "-" "0000016348" "00000060" "00" "161" "0" "161" "0" "c.161A>G" "" "p.(Tyr54Cys)" "r.(?)" "" "" "" "" "" "-" "0000016348" "00000061" "00" "1697" "0" "1697" "0" "n.1697A>G" "" "-" "r.(?)" 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"" "" "" "" "" "-" "0000024036" "00000057" "00" "-605" "0" "-605" "0" "c.-605G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024036" "00000058" "00" "-605" "0" "-605" "0" "c.-605G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024036" "00000059" "00" "-127" "0" "-127" "0" "c.-127G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024036" "00000060" "00" "-127" "0" "-127" "0" "c.-127G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024036" "00000061" "00" "1" "-431" "1" "-431" "n.-431G>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024037" "00000057" "00" "-585" "0" "-585" "0" "c.-585T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024037" "00000058" "00" "-585" "0" "-585" "0" "c.-585T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024037" "00000059" "00" "-120" "13" "-120" "13" "c.-120+13T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024037" "00000060" "00" "-120" "13" "-120" "13" "c.-120+13T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024037" "00000061" "00" "1" "-411" "1" "-411" "n.-411T>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024038" "00000057" "00" "-549" "0" "-549" "0" "c.-549G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024038" "00000058" "00" "-549" "0" "-549" "0" "c.-549G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024038" "00000059" "00" "-120" "49" "-120" "49" "c.-120+49G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024038" "00000060" "00" "-120" "49" "-120" "49" "c.-120+49G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024038" "00000061" "00" "1" "-375" "1" "-375" "n.-375G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024039" "00000057" "00" "-470" "0" "-470" "0" "c.-470G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024039" "00000058" "00" "-470" "0" "-470" "0" "c.-470G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024039" "00000059" "00" "-120" "128" "-120" "128" "c.-120+128G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024039" "00000060" "00" "-120" "128" "-120" "128" "c.-120+128G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024039" "00000061" "00" "1" "-296" "1" "-296" "n.-296G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024040" "00000057" "00" "-423" "0" "-423" "0" "c.-423C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024040" "00000058" "00" "-423" "0" "-423" "0" "c.-423C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024040" "00000059" "00" "-120" "175" "-120" "175" "c.-120+175C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024040" "00000060" "00" "-120" "175" "-120" "175" "c.-120+175C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024040" "00000061" "00" "1" "-249" "1" "-249" "n.-249C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024041" "00000057" "00" "-307" "0" "-306" "0" "c.-307_-306del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024041" "00000058" "00" "-307" "0" "-306" "0" "c.-307_-306del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024041" "00000059" "00" "-120" "291" "-120" "292" "c.-120+291_-120+292del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024041" "00000060" "00" "-120" "291" "-120" "292" "c.-120+291_-120+292del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024041" "00000061" "00" "1" "-133" "1" "-132" "n.-133_-132del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024042" "00000057" "00" "-290" "0" "-290" "0" "c.-290G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024042" "00000058" "00" "-290" "0" "-290" "0" "c.-290G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024042" "00000059" "00" "-120" "308" "-120" "308" "c.-120+308G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024042" "00000060" "00" "-120" "308" "-120" "308" "c.-120+308G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024042" "00000061" "00" "1" "-116" "1" "-116" "n.-116G>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024043" "00000057" "00" "-241" "0" "-241" "0" "c.-241C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024043" "00000058" "00" "-241" "0" "-241" "0" "c.-241C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024043" "00000059" "00" "-120" "357" "-120" "357" "c.-120+357C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024043" "00000060" "00" "-120" "357" "-120" "357" "c.-120+357C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024043" "00000061" "00" "1" "-67" "1" "-67" "n.-67C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024044" "00000057" "00" "-105" "0" "-105" "0" "c.-105T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024044" "00000058" "00" "-105" "0" "-105" "0" "c.-105T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024044" "00000059" "00" "-120" "493" "-120" "493" "c.-120+493T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024044" "00000060" "00" "-120" "493" "-120" "493" "c.-120+493T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024044" "00000061" "00" "70" "0" "70" "0" "n.70T>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024045" "00000057" "00" "76" "0" "76" "0" "c.76G>A" "" "p.(Gly26Ser)" "r.(?)" "" "" "" "" "" "-" "0000024045" "00000058" "00" "76" "0" "76" "0" "c.76G>A" "" "p.(Gly26Ser)" "r.(?)" "" "" "" "" "" "-" "0000024045" "00000059" "00" "-120" "673" "-120" "673" "c.-120+673G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024045" "00000060" "00" "-120" "673" "-120" "673" "c.-120+673G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024045" "00000061" "00" "250" "0" "250" "0" "n.250G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024046" "00000057" "00" "77" "0" "77" "0" "c.77G>T" "" "p.(Gly26Val)" "r.(?)" "" "" "" "" "" "-" "0000024046" "00000058" "00" "77" "0" "77" "0" "c.77G>T" "" "p.(Gly26Val)" "r.(?)" "" "" "" "" "" "-" "0000024046" "00000059" "00" "-120" "674" "-120" "674" "c.-120+674G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024046" "00000060" "00" "-120" "674" "-120" "674" "c.-120+674G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024046" "00000061" "00" "251" "0" "251" "0" "n.251G>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024047" "00000057" "00" "274" "0" "274" "0" "c.274G>A" "" "p.(Gly92Ser)" "r.(?)" "" "" "" "" "" "-" "0000024047" "00000058" "00" "274" "0" "274" "0" "c.274G>A" "" "p.(Gly92Ser)" "r.(?)" "" "" "" "" "" "-" "0000024047" "00000059" "00" "-120" "871" "-120" "871" "c.-120+871G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024047" "00000060" "00" "-120" "871" "-120" "871" "c.-120+871G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024047" "00000061" "00" "448" "0" "448" "0" "n.448G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024048" "00000057" "00" "276" "0" "276" "0" "c.276C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024048" "00000058" "00" "276" "0" "276" "0" "c.276C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024048" "00000059" "00" "-120" "873" "-120" "873" "c.-120+873C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024048" "00000060" "00" "-120" "873" "-120" "873" "c.-120+873C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024048" "00000061" "00" "450" "0" "450" "0" "n.450C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024049" "00000057" "00" "384" "0" "384" "0" "c.384C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024049" "00000058" "00" "384" "0" "384" "0" "c.384C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024049" "00000059" "00" "-120" "981" "-120" "981" "c.-120+981C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024049" "00000060" "00" "-120" "981" "-120" "981" "c.-120+981C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024049" "00000061" "00" "558" "0" "558" "0" "n.558C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024050" "00000057" "00" "492" "0" "492" "0" "c.492C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024050" "00000058" "00" "492" "0" "492" "0" "c.492C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024050" "00000059" "00" "-119" "-942" "-119" "-942" "c.-119-942C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024050" "00000060" "00" "-119" "-942" "-119" "-942" "c.-119-942C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024050" "00000061" "00" "666" "0" "666" "0" "n.666C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024051" "00000057" "00" "639" "0" "639" "0" "c.639C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024051" "00000058" "00" "639" "0" "639" "0" "c.639C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024051" "00000059" "00" "-119" "-795" "-119" "-795" "c.-119-795C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024051" "00000060" "00" "-119" "-795" "-119" "-795" "c.-119-795C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024051" "00000061" "00" "813" "0" "813" "0" "n.813C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024052" "00000057" "00" "922" "0" "922" "0" "c.922T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024052" "00000058" "00" "922" "0" "922" "0" "c.922T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024052" "00000059" "00" "-119" "-512" "-119" "-512" "c.-119-512T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024052" "00000060" "00" "-119" "-512" "-119" "-512" "c.-119-512T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024052" "00000061" "00" "1096" "0" "1096" "0" "n.1096T>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024053" "00000057" "00" "1042" "0" "1042" "0" "c.1042G>A" "" "p.(Gly348Arg)" "r.(?)" "" "" "" "" "" "-" "0000024053" "00000058" "00" "1042" "0" "1042" "0" "c.1042G>A" "" "p.(Gly348Arg)" "r.(?)" "" "" "" "" "" "-" "0000024053" "00000059" "00" "-119" "-392" "-119" "-392" "c.-119-392G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024053" "00000060" "00" "-119" "-392" "-119" "-392" "c.-119-392G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024053" "00000061" "00" "1216" "0" "1216" "0" "n.1216G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024054" "00000057" "00" "1070" "0" "1070" "0" "c.1070G>C" "" "p.(Arg357Pro)" "r.(?)" "" "" "" "" "" "-" "0000024054" "00000058" "00" "1070" "0" "1070" "0" "c.1070G>C" "" "p.(Arg357Pro)" "r.(?)" "" "" "" "" "" "-" "0000024054" "00000059" "00" "-119" "-364" "-119" "-364" "c.-119-364G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024054" "00000060" "00" "-119" "-364" "-119" "-364" "c.-119-364G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024054" "00000061" "00" "1244" "0" "1244" "0" "n.1244G>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024055" "00000057" "00" "1101" "0" "1101" "0" "c.1101C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024055" "00000058" "00" "1101" "0" "1101" "0" "c.1101C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024055" "00000059" "00" "-119" "-333" "-119" "-333" "c.-119-333C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024055" "00000060" "00" "-119" "-333" "-119" "-333" "c.-119-333C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024055" "00000061" "00" "1275" "0" "1275" "0" "n.1275C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024056" "00000057" "00" "1102" "0" "1102" "0" "c.1102G>A" "" "p.(Val368Ile)" "r.(?)" "" "" "" "" "" "-" "0000024056" "00000058" "00" "1102" "0" "1102" "0" "c.1102G>A" "" "p.(Val368Ile)" "r.(?)" "" "" "" "" "" "-" "0000024056" "00000059" "00" "-119" "-332" "-119" "-332" "c.-119-332G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024056" "00000060" "00" "-119" "-332" "-119" "-332" "c.-119-332G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024056" "00000061" "00" "1276" "0" "1276" "0" "n.1276G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024057" "00000057" "00" "1172" "0" "1172" "0" "c.1172G>A" "" "p.(Arg391His)" "r.(?)" "" "" "" "" "" "-" "0000024057" "00000058" "00" "1172" "0" "1172" "0" "c.1172G>A" "" "p.(Arg391His)" "r.(?)" "" "" "" "" "" "-" "0000024057" "00000059" "00" "-119" "-262" "-119" "-262" "c.-119-262G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024057" "00000060" "00" "-119" "-262" "-119" "-262" "c.-119-262G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024057" "00000061" "00" "1346" "0" "1346" "0" "n.1346G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024058" "00000057" "00" "1488" "0" "1488" "0" "c.1488T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024058" "00000058" "00" "1488" "0" "1488" "0" "c.1488T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024058" "00000059" "00" "126" "0" "126" "0" "c.126T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024058" "00000060" "00" "126" "0" "126" "0" "c.126T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024058" "00000061" "00" "1662" "0" "1662" "0" "n.1662T>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024059" "00000057" "00" "1527" "0" "1527" "0" "c.1527C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024059" "00000058" "00" "1527" "0" "1527" "0" "c.1527C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024059" "00000059" "00" "165" "0" "165" "0" "c.165C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024059" "00000060" "00" "165" "0" "165" "0" "c.165C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024059" "00000061" "00" "1701" "0" "1701" "0" "n.1701C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024060" "00000057" "00" "1593" "-5" "1593" "-5" "c.1593-5C>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024060" "00000058" "00" "1593" "-5" "1593" "-5" "c.1593-5C>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024060" "00000059" "00" "231" "-5" "231" "-5" "c.231-5C>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024060" "00000060" "00" "231" "-5" "231" "-5" "c.231-5C>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024060" "00000061" "00" "1887" "-5" "1887" "-5" "n.1887-5C>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024061" "00000057" "00" "1593" "-3" "1593" "-3" "c.1593-3T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024061" "00000058" "00" "1593" "-3" "1593" "-3" "c.1593-3T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024061" "00000059" "00" "231" "-3" "231" "-3" "c.231-3T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024061" "00000060" "00" "231" "-3" "231" "-3" "c.231-3T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024061" "00000061" "00" "1887" "-3" "1887" "-3" "n.1887-3T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024062" "00000057" "00" "1697" "0" "1697" "0" "c.1697A>G" "" "p.(Lys566Arg)" "r.(?)" "" "" "" "" "" "-" "0000024062" "00000058" "00" "1697" "0" "1697" "0" "c.1697A>G" "" "p.(Lys566Arg)" "r.(?)" "" "" "" "" "" "-" "0000024062" "00000059" "00" "335" "0" "335" "0" "c.335A>G" "" "p.(Lys112Arg)" "r.(?)" "" "" "" "" "" "-" "0000024062" "00000060" "00" "335" "0" "335" "0" "c.335A>G" "" "p.(Lys112Arg)" "r.(?)" "" "" "" "" "" "-" "0000024062" "00000061" "00" "1991" "0" "1991" "0" "n.1991A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024063" "00000057" "00" "1779" "-14" "1779" "-14" "c.*30-14C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024063" "00000058" "00" "1735" "-14" "1735" "-14" "c.1735-14C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024063" "00000059" "00" "417" "-14" "417" "-14" "c.*30-14C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024063" "00000060" "00" "373" "-14" "373" "-14" "c.373-14C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024063" "00000061" "00" "2029" "-14" "2029" "-14" "n.2029-14C>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024064" "00000057" "00" "1897" "0" "1897" "0" "c.*148C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024064" "00000058" "00" "1853" "0" "1853" "0" "c.1853C>T" "" "p.(Pro618Leu)" "r.(?)" "" "" "" "" "" "-" "0000024064" "00000059" "00" "535" "0" "535" "0" "c.*148C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024064" "00000060" "00" "491" "0" "491" "0" "c.491C>T" "" "p.(Pro164Leu)" "r.(?)" "" "" "" "" "" "-" "0000024064" "00000061" "00" "2147" "0" "2147" "0" "n.2147C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024065" "00000057" "00" "2019" "0" "2019" "0" "c.*270G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024065" "00000058" "00" "1975" "0" "1975" "0" "c.1975G>A" "" "p.(Ala659Thr)" "r.(?)" "" "" "" "" "" "-" "0000024065" "00000059" "00" "657" "0" "657" "0" "c.*270G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024065" "00000060" "00" "613" "0" "613" "0" "c.613G>A" "" "p.(Ala205Thr)" "r.(?)" "" "" "" "" "" "-" "0000024065" "00000061" "00" "2269" "0" "2269" "0" "n.2269G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024066" "00000057" "00" "2089" "0" "2089" "0" "c.*340G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024066" "00000058" "00" "2045" "0" "2045" "0" "c.2045G>A" "" "p.(Arg682His)" "r.(?)" 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"" "" "" "" "" "-" "0000024073" "00000057" "00" "2537" "0" "2537" "0" "c.*788G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024073" "00000058" "00" "2493" "0" "2493" "0" "c.*438G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024073" "00000059" "00" "1175" "0" "1175" "0" "c.*788G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024073" "00000060" "00" "1131" "0" "1131" "0" "c.*438G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024073" "00000061" "00" "2787" "0" "2787" "0" "n.2787G>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024074" "00000057" "00" "2554" "0" "2554" "0" "c.*805C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024074" "00000058" "00" "2510" "0" "2510" "0" "c.*455C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024074" "00000059" "00" "1192" "0" "1192" "0" "c.*805C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024074" "00000060" "00" "1148" "0" "1148" "0" "c.*455C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024074" "00000061" "00" "2804" "0" "2804" "0" "n.2804C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024075" "00000057" "00" "2570" "0" "2571" "0" "c.*821_*822del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024075" "00000058" "00" "2526" "0" "2527" "0" "c.*471_*472del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024075" "00000059" "00" "1208" "0" "1209" "0" "c.*821_*822del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024075" "00000060" "00" "1164" "0" "1165" "0" "c.*471_*472del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024075" "00000061" "00" "2820" "0" "2821" "0" "n.2820_2821del" "" "-" "r.(?)" 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"" "" "" "" "" "-" "0000024077" "00000057" "00" "2654" "0" "2654" "0" "c.*905G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024077" "00000058" "00" "2610" "0" "2610" "0" "c.*555G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024077" "00000059" "00" "1292" "0" "1292" "0" "c.*905G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024077" "00000060" "00" "1248" "0" "1248" "0" "c.*555G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024077" "00000061" "00" "2904" "0" "2904" "0" "n.2904G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024078" "00000057" "00" "2673" "0" "2673" "0" "c.*924C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024078" "00000058" "00" "2629" "0" "2629" "0" "c.*574C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024078" "00000059" "00" "1311" "0" "1311" "0" "c.*924C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024078" "00000060" "00" "1267" "0" "1267" "0" "c.*574C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024078" "00000061" "00" "2923" "0" "2923" "0" "n.2923C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024079" "00000057" "00" "2718" "0" "2718" "0" "c.*969G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024079" "00000058" "00" "2674" "0" "2674" "0" "c.*619G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024079" "00000059" "00" "1356" "0" "1356" "0" "c.*969G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024079" "00000060" "00" "1312" "0" "1312" "0" "c.*619G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024079" "00000061" "00" "2968" "0" "2968" "0" "n.2968G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024080" "00000057" "00" "2808" "0" "2808" "0" "c.*1059C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024080" "00000058" "00" "2764" "0" "2764" "0" "c.*709C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024080" "00000059" "00" "1446" "0" "1446" "0" "c.*1059C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024080" "00000060" "00" "1402" "0" "1402" "0" "c.*709C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024080" "00000061" "00" "3058" "0" "3058" "0" "n.3058C>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024081" "00000057" "00" "2846" "0" "2846" "0" "c.*1097C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024081" "00000058" "00" "2802" "0" "2802" "0" "c.*747C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024081" "00000059" "00" "1484" "0" "1484" "0" "c.*1097C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024081" "00000060" "00" "1440" "0" "1440" "0" "c.*747C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024081" "00000061" "00" "3096" "0" "3096" "0" "n.3096C>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024082" "00000057" "00" "2862" "0" "2862" "0" "c.*1113T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024082" "00000058" "00" "2818" "0" "2818" "0" "c.*763T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024082" "00000059" "00" "1500" "0" "1500" "0" "c.*1113T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024082" "00000060" "00" "1456" "0" "1456" "0" "c.*763T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024082" "00000061" "00" "3112" "0" "3112" "0" "n.3112T>C" "" "-" "r.(?)" 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"" "" "" "" "" "-" "0000024084" "00000057" "00" "2902" "0" "2902" "0" "c.*1153A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024084" "00000058" "00" "2858" "0" "2858" "0" "c.*803A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024084" "00000059" "00" "1540" "0" "1540" "0" "c.*1153A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024084" "00000060" "00" "1496" "0" "1496" "0" "c.*803A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024084" "00000061" "00" "3152" "0" "3152" "0" "n.3152A>G" "" "-" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0