### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC22A5) # 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}}" "SLC22A5" "solute carrier family 22 (organic cation/carnitine transporter), member 5" "5" "q23.3" "unknown" "NC_000005.9" "UD_138313416397" "" "" "" "1" "1" "10969" "6584" "603377" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:46:20" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "{{chrom}}" "00001144" "SLC22A5" "transcript variant X1" "001" "XM_005272055.1" "" "XP_005272112.1" "" "" "" "-269" "3085" "1746" "131705396" "131731303" "00001" "2013-11-12 21:56:16" "" "" "" "5" "00001145" "SLC22A5" "solute carrier family 22 (organic cation/carnitine transporter), member 5" "002" "NM_003060.3" "" "NP_003051.1" "" "" "" "-264" "3016" "1674" "131705401" "131731306" "00001" "2013-11-12 21:56:17" "" "" "" "5" "00001146" "SLC22A5" "transcript variant X2" "003" "XM_005272056.1" "" "XP_005272113.1" "" "" "" "-82" "2743" "1404" "131705983" "131731303" "00001" "2013-11-12 21:56:17" "" "" "" "5" ## 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}}" "00473" "CDSP" "CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP" "212140" "" "" "" "00001" "2014-04-10 15:30:00" "00001" "2014-04-10 16:45:40" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC22A5" "00473" ## 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 = 394 "{{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}}" "0000001037" "0" "77" "5" "131705480" "131705480" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-06 05:38:27" "SLC22A5_000116" "g.131705480C>A" "" "" "" "rs2631366" "subst" "0" "; clinvar;" "4.020" "" "" "" "" "MSCV_0001037" "" "0000001038" "0" "99" "5" "131705516" "131705516" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 06:42:33" "SLC22A5_000117" "g.131705516G>A" "" "" "" "rs57262206" "subst" "0" "; clinvar; ensembl;" "0.509" "" "" "" "" "MSCV_0001038" "" "0000001039" "0" "11" "5" "131705587" "131705587" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:07" "SLC22A5_000049" "g.131705587C>T" "" "{PMID:10545605:10545605}" "" "rs13180043" "subst" "0" "; clinvar; ensembl;" "-7.340" "" "" "" "" "MSCV_0001039" "" "0000001040" "0" "11" "5" "131705588" "131705588" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:09" "SLC22A5_000050" "g.131705588G>A" "" "{PMID:10545605:10545605}" "" "rs13180295" "subst" "0" "; clinvar; ensembl;" "0.734" "" "" "" "" "MSCV_0001040" "" "0000001041" "0" "11" "5" "131705627" "131705627" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:10" "SLC22A5_000051" "g.131705627C>A" "" "" "" "rs1045018" "subst" "0" "; clinvar;" "-0.801" "" "" "" "" "MSCV_0001041" "" "0000001042" "0" "55" "5" "131705667" "131705668" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-08-22 12:42:08" "SLC22A5_000053" "g.131705667_131705668insC" "" "{PMID:9916797:9916797}" "" "rs377767443" "ins" "0" ";" "" "" "" "" "" "MSCV_0001042" "" "0000001043" "0" "99" "5" "131705667" "131705667" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-06-30 10:02:31" "SLC22A5_000052" "g.131705667G>T" "" "{PMID:15714519:15714519}" "" "rs121908892" "subst" "0" "; clinvar; ensembl;" "4.990" "" "" "" "" "MSCV_0001043" "" "0000001044" "0" "55" "5" "131705668" "131705668" "dup" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-03-03 05:32:36" "SLC22A5_000054" "g.131705668dup" "" "" "" "" "dup" "0" ";" "3.070" "" "" "" "" "MSCV_0001044" "" "0000001045" "0" "99" "5" "131705676" "131705676" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:13" "SLC22A5_000055" "g.131705676C>G" "" "{PMID:11715001:11715001}" "" "rs72552722" "subst" "0" "; clinvar; ensembl;" "4.990" "" "" "" "" "MSCV_0001045" "" "0000001046" "0" "99" "5" "131705698" "131705698" "subst" "35" "0.00107643" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-06-29 21:07:30" "SLC22A5_000056" "g.131705698G>A" "" "" "" "rs139203363" "subst" "0" "; clinvar; ensembl;" "4.990" "" "" "" "" "MSCV_0001046" "" "0000001047" "0" "99" "5" "131705707" "131705707" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:14" "SLC22A5_000057" "g.131705707G>T" "" "{PMID:20027113:20027113}" "" "rs267607052" "subst" "0" "; clinvar; ensembl;" "4.990" "" "" "" "" "MSCV_0001047" "" "0000001048" "0" "99" "5" "131705715" "131705715" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 06:42:33" "SLC22A5_000058" "g.131705715C>G" "" "{PMID:23757202:23757202}" "" "rs11568520" "subst" "0" "; clinvar; ensembl;" "3.210" "" "" "" "" "MSCV_0001048" "" "0000001049" "0" "99" "5" "131705720" "131705720" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:16" "SLC22A5_000059" "g.131705720G>C" "" "{PMID:11715001:11715001}" "" "rs72552723" "subst" "0" "; clinvar; ensembl;" "4.990" "" "" "" "" "MSCV_0001049" "" "0000001050" "0" "99" "5" "131705723" "131705723" "subst" "35" "0.00499846" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:16" "SLC22A5_000060" "g.131705723T>A" "" "" "" "rs144020613" "subst" "0" "; clinvar; ensembl;" "5.180" "" "" "" "" "MSCV_0001050" "" "0000001051" "0" "77" "5" "131705728" "131705730" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:17" "SLC22A5_000061" "g.131705728_131705730del" "" "{PMID:12210323:12210323}" "" "rs377767444" "del" "0" "; ensembl;" "" "" "" "" "" "MSCV_0001051" "" "0000001052" "0" "55" "5" "131705731" "131705733" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:17" "SLC22A5_000062" "g.131705731_131705733del" "" "" "" "" "del" "0" ";" "" "" "" "" "" "MSCV_0001052" "" "0000001053" "0" "99" "5" "131705747" "131705747" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:18" "SLC22A5_000063" "g.131705747G>T" "" "{PMID:12408185:12408185}" "" "rs72552724" "subst" "0" "; clinvar; ensembl;" "5.180" "" "" "" "" "MSCV_0001053" "" "0000001054" "0" "99" "5" "131705759" "131705759" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:18" "SLC22A5_000064" "g.131705759A>G" "" "{PMID:12210323:12210323}" "" "rs72552725" "subst" "0" "; clinvar; ensembl;" "4.000" "" "" "" "" "MSCV_0001054" "" "0000001055" "0" "99" "5" "131705800" "131705800" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-07 20:48:19" "SLC22A5_000065" "g.131705800C>G" "" "{PMID:17126586:17126586}" "" "rs202088921" "subst" "0" "; clinvar; ensembl;" "5.320" "" "" "" "" "MSCV_0001055" "" "0000001057" "0" "99" "5" "131705800" "131705800" "subst" "35" "0.000615385" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-06 15:08:31" "SLC22A5_000066" "g.131705800C>T" "" "{PMID:17126586:17126586}" "" "rs202088921" "subst" "0" "; clinvar; ensembl;" "5.320" "" "" "" "" "MSCV_0001057" "" "0000001058" "0" "99" "5" "131705801" "131705801" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:21" "SLC22A5_000067" "g.131705801C>T" "" "" "" "rs377767445" "subst" "0" "; clinvar; ensembl;" "5.320" "" "" "" "" "MSCV_0001058" "" "0000001059" "0" "99" "5" "131705812" "131705812" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:21" "SLC22A5_000068" "g.131705812del" "" "" "" "rs386134227" "del" "0" "; clinvar; ensembl;" "5.460" "" "" "" "" "MSCV_0001059" "" "0000001060" "0" "11" "5" "131705871" "131705871" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:22" "SLC22A5_000069" "g.131705871G>C" "" "{PMID:16437728:16437728}" "" "rs377767446" "subst" "0" "; clinvar; ensembl;" "4.580" "" "" "" "" "MSCV_0001060" "" "0000001061" "0" "99" "5" "131705896" "131705896" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:22" "SLC22A5_000070" "g.131705896del" "" "{PMID:16652335:16652335}" "" "rs377767447" "del" "0" "; clinvar; ensembl;" "5.460" "" "" "" "" "MSCV_0001061" "" "0000001062" "0" "11" "5" "131705910" "131705910" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 06:42:33" "SLC22A5_000071" "g.131705910C>T" "" "" "" "rs377767448" "subst" "0" "; clinvar; ensembl;" "1.140" "" "" "" "" "MSCV_0001062" "" "0000001063" "0" "99" "5" "131705912" "131705912" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-12-23 05:06:05" "SLC22A5_000072" "g.131705912G>T" "" "{PMID:15617188:15617188};{PMID:23757202:23757202}" "" "rs72552726" "subst" "0" "; clinvar; ensembl;" "5.460" "" "" "" "" "MSCV_0001063" "" "0000001064" "0" "55" "5" "131705917" "131705918" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:07:31" "SLC22A5_000114" "g.131705917_131705918insGGCTCGCCACC" "" "{PMID:11715001:11715001}" "" "rs377767449" "ins" "0" ";" "" "" "" "" "" "MSCV_0001064" "" "0000001065" "0" "55" "5" "131705928" "131705929" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-11-27 17:13:36" "SLC22A5_000115" "g.131705928_131705929insGGCTCGCCACC" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0001065" "" "0000001066" "0" "99" "5" "131705929" "131705930" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:09" "SLC22A5_000026" "g.131705929_131705930insGGCTCGCCACC" "" "" "" "rs386134189" "ins" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001066" "" "0000001067" "0" "99" "5" "131705942" "131705942" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:10" "SLC22A5_000027" "g.131705942C>G" "" "" "" "rs386134190" "subst" "0" "; clinvar; ensembl;" "5.460" "" "" "" "" "MSCV_0001067" "" "0000001068" "0" "99" "5" "131705947" "131705947" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:11" "SLC22A5_000028" "g.131705947C>G" "" "" "" "rs386134191" "subst" "0" "; clinvar; ensembl;" "4.560" "" "" "" "" "MSCV_0001068" "" "0000001069" "0" "99" "5" "131705951" "131705951" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-06-30 09:52:50" "SLC22A5_000029" "g.131705951G>C" "" "" "" "rs377767450" "subst" "0" "; clinvar; ensembl;" "5.460" "" "" "" "" "MSCV_0001069" "" "0000001070" "0" "99" "5" "131706008" "131706008" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-06 12:30:27" "SLC22A5_000030" "g.131706008A>G" "" "" "" "rs386134192" "subst" "0" "; clinvar; ensembl;" "5.460" "" "" "" "" "MSCV_0001070" "" "0000001071" "0" "99" "5" "131706028" "131706028" "subst" "35" "0.000230876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-04-06 14:47:46" "SLC22A5_000031" "g.131706028G>T" "" "" "" "rs201082652" "subst" "0" "; clinvar; ensembl;" "5.460" "" "" "" "" "MSCV_0001071" "" "0000001072" "0" "99" "5" "131706074" "131706074" "subst" "51" "0.0265521" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 06:42:33" "SLC22A5_000032" "g.131706074G>A" "" "" "" "rs11568522" "subst" "0" "; clinvar; ensembl;" "0.932" "" "" "" "" "MSCV_0001072" "" "0000001073" "0" "99" "5" "131714072" "131714072" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-06 15:54:24" "SLC22A5_000033" "g.131714072G>A" "" "{PMID:9916797:9916797};{PMID:10072434:10072434};{PMID:9700600:9700600}" "" "rs72552727" "subst" "0" "; clinvar; ensembl;" "5.740" "" "" "" "" "MSCV_0001073" "" "0000001074" "0" "11" "5" "131714090" "131714090" "subst" "35" "0.000615101" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:43:18" "SLC22A5_000001" "g.131714090C>T" "" "" "" "rs150705788" "subst" "0" "; clinvar; ensembl;" "-3.600" "" "" "" "" "MSCV_0001074" "" "0000001075" "0" "99" "5" "131714100" "131714100" "subst" "35" "0.000384438" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:43:19" "SLC22A5_000002" "g.131714100G>T" "" "{PMID:23757202:23757202};{PMID:16652335:16652335}" "" "rs151231558" "subst" "0" "; clinvar; ensembl;" "3.940" "" "" "" "" "MSCV_0001075" "" "0000001076" "0" "99" "5" "131714106" "131714106" "subst" "35" "0.028064" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:43:20" "SLC22A5_000003" "g.131714106C>T" "" "" "" "rs10040427" "subst" "0" "; clinvar; ensembl;" "3.020" "" "" "" "" "MSCV_0001076" "" "0000001077" "0" "99" "5" "131714127" "131714127" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-06-16 02:36:51" "SLC22A5_000004" "g.131714127G>A" "" "" "" "rs386134193" "subst" "0" "; clinvar; ensembl;" "5.530" "" "" "" "" "MSCV_0001077" "" "0000001078" "0" "99" "5" "131714129" "131714129" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:43:21" "SLC22A5_000005" "g.131714129G>A" "" "" "" "rs386134194" "subst" "0" "; clinvar; ensembl;" "5.530" "" "" "" "" "MSCV_0001078" "" "0000001079" "0" "77" "5" "131714132" "131714133" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-08-30 09:31:56" "SLC22A5_000006" "g.131714132_131714133del" "" "{PMID:15714519:15714519}" "" "rs386134195" "del" "0" "; ensembl;" "" "" "" "" "" "MSCV_0001079" "" "0000001080" "0" "55" "5" "131714134" "131714135" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-04 21:59:47" "SLC22A5_000007" "g.131714134_131714135del" "" "" "" "" "del" "0" ";" "" "" "" "" "" "MSCV_0001080" "" "0000001081" "0" "99" "5" "131719846" "131719846" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:43:23" "SLC22A5_000008" "g.131719846C>T" "" "{PMID:11058897:11058897}" "" "rs121908890" "subst" "0" "; clinvar; ensembl;" "5.580" "" "" "" "" "MSCV_0001081" "" "0000001082" "0" "99" "5" "131719847" "131719847" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-04-06 14:57:17" "SLC22A5_000009" "g.131719847G>A" "" "{PMID:10425211:10425211}" "" "rs121908889" "subst" "0" "; clinvar; ensembl;" "5.580" "" "" "" "" "MSCV_0001082" "" "0000001083" "0" "99" "5" "131719876" "131719876" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:43:25" "SLC22A5_000010" "g.131719876A>T" "" "{PMID:10545605:10545605}" "" "rs386134196" "subst" "0" "; clinvar; ensembl;" "5.580" "" "" "" "" "MSCV_0001083" "" "0000001084" "0" "99" "5" "131719898" "131719898" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:43:25" "SLC22A5_000011" "g.131719898T>C" "" "" "" "rs386134197" "subst" "0" "; clinvar; ensembl;" "5.580" "" "" "" "" "MSCV_0001084" "" "0000001085" "0" "99" "5" "131719970" "131719970" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:43:26" "SLC22A5_000012" "g.131719970A>G" "" "" "" "rs386134198" "subst" "0" "; clinvar; ensembl;" "5.580" "" "" "" "" "MSCV_0001085" "" "0000001086" "0" "99" "5" "131719973" "131719973" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:43:27" "SLC22A5_000013" "g.131719973A>G" "" "{PMID:10480371:10480371};{PMID:2199596:2199596};{PMID:3215194:3215194}" "" "rs121908888" "subst" "0" "; clinvar; ensembl;" "5.580" "" "" "" "" "MSCV_0001086" "" "0000001087" "0" "99" "5" "131719982" "131719982" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-03-28 08:40:37" "SLC22A5_000014" "g.131719982C>T" "" "" "" "rs386134199" "subst" "0" "; clinvar; ensembl;" "5.580" "" "" "" "" "MSCV_0001087" "" "0000001088" "0" "99" "5" "131719994" "131719994" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:43:28" "SLC22A5_000015" "g.131719994G>A" "" "{PMID:12210323:12210323}" "" "rs386134200" "subst" "0" "; clinvar; ensembl;" "5.580" "" "" "" "" "MSCV_0001088" "" "0000001089" "0" "00" "5" "131719994" "131719994" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:43:29" "SLC22A5_000016" "g.131719994G>T" "" "" "" "NA" "subst" "0" ";" "5.580" "" "" "" "" "MSCV_0001089" "" "0000001090" "0" "11" "5" "131719999" "131719999" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-06-02 21:14:59" "SLC22A5_000017" "g.131719999A>G" "" "{PMID:23757202:23757202}" "" "rs4551059" "subst" "0" "; clinvar; ensembl;" "3.560" "" "" "" "" "MSCV_0001090" "" "0000001091" "0" "11" "5" "131720070" "131720070" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:43:30" "SLC22A5_000018" "g.131720070A>G" "" "" "" "rs274559" "subst" "0" "; clinvar; ensembl;" "1.650" "" "" "" "" "MSCV_0001091" "" "0000001092" "0" "99" "5" "131721018" "131721018" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:43:31" "SLC22A5_000019" "g.131721018A>C" "" "" "" "rs386134201" "subst" "0" "; clinvar; ensembl;" "5.900" "" "" "" "" "MSCV_0001092" "" "0000001093" "0" "99" "5" "131721020" "131721191" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:43:31" "SLC22A5_000020" "g.131721020_131721191del" "" "" "" "" "del" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001093" "" "0000001094" "0" "99" "5" "131721041" "131721041" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-07 06:02:44" "SLC22A5_000021" "g.131721041C>T" "" "" "" "rs386134205" "subst" "0" "; clinvar; ensembl;" "4.980" "" "" "" "" "MSCV_0001094" "" "0000001095" "0" "99" "5" "131721059" "131721059" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:43:33" "SLC22A5_000022" "g.131721059C>T" "" "" "" "rs386134206" "subst" "0" "; clinvar; ensembl;" "5.900" "" "" "" "" "MSCV_0001095" "" "0000001096" "0" "99" "5" "131721062" "131721062" "subst" "35" "0.000153775" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-10-28 20:31:29" "SLC22A5_000023" "g.131721062C>T" "" "{PMID:23757202:23757202}" "" "rs114269482" "subst" "0" "; clinvar; ensembl;" "5.900" "" "" "" "" "MSCV_0001096" "" "0000001097" "0" "99" "5" "131721092" "131721092" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-06-09 17:23:20" "SLC22A5_000024" "g.131721092G>T" "" "{PMID:11058897:11058897}" "" "rs72552728" "subst" "0" "; clinvar; ensembl;" "5.900" "" "" "" "" "MSCV_0001097" "" "0000001098" "0" "99" "5" "131721127" "131721127" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-03-28 06:54:31" "SLC22A5_000025" "g.131721127C>T" "" "{PMID:12204000:12204000};{PMID:17594400:17594400};{PMID:23757202:23757202};{PMID:15303004:15303004};{PMID:9700603:9700603}" "" "rs121908893" "subst" "0" "; clinvar; ensembl;" "-4.330" "" "" "" "" "MSCV_0001098" "" "0000001099" "0" "99" "5" "131721128" "131721128" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-10-08 11:16:39" "SLC22A5_000034" "g.131721128G>A" "" "" "" "rs200699819" "subst" "0" "; clinvar; ensembl;" "5.900" "" "" "" "" "MSCV_0001099" "" "0000001100" "0" "99" "5" "131721135" "131721135" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:15" "SLC22A5_000035" "g.131721135G>A" "" "{PMID:16652335:16652335}" "" "rs386134202" "subst" "0" "; clinvar; ensembl;" "5.900" "" "" "" "" "MSCV_0001100" "" "0000001101" "0" "99" "5" "131721136" "131721136" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:16" "SLC22A5_000036" "g.131721136C>T" "" "{PMID:20574985:20574985}" "" "rs386134203" "subst" "0" "; clinvar; ensembl;" "2.760" "" "" "" "" "MSCV_0001101" "" "0000001102" "0" "99" "5" "131721173" "131721173" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:16" "SLC22A5_000037" "g.131721173del" "" "{PMID:12409266:12409266}" "" "rs386134204" "del" "0" "; clinvar; ensembl;" "5.900" "" "" "" "" "MSCV_0001102" "" "0000001103" "0" "11" "5" "131721174" "131721174" "subst" "35" "0.378287" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-07 06:28:34" "SLC22A5_000038" "g.131721174A>G" "" "{PMID:12204000:12204000};{PMID:23757202:23757202}" "" "rs274558" "subst" "0" "; clinvar;" "-0.822" "" "" "" "" "MSCV_0001103" "" "0000001104" "0" "11" "5" "131721204" "131721204" "subst" "35" "0.373904" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-06-30 10:07:30" "SLC22A5_000039" "g.131721204T>C" "" "{PMID:12204000:12204000};{PMID:23757202:23757202}" "" "rs274557" "subst" "0" "; clinvar;" "1.160" "" "" "" "" "MSCV_0001104" "" "0000001105" "0" "99" "5" "131722717" "131722717" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:18" "SLC22A5_000040" "g.131722717G>A" "" "{PMID:15714519:15714519}" "" "rs386134207" "subst" "0" "; clinvar; ensembl;" "5.400" "" "" "" "" "MSCV_0001105" "" "0000001106" "0" "99" "5" "131722731" "131722731" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:18" "SLC22A5_000041" "g.131722731del" "" "{PMID:12210323:12210323}" "" "rs386134209" "del" "0" "; clinvar; ensembl;" "5.400" "" "" "" "" "MSCV_0001106" "" "0000001107" "0" "99" "5" "131722731" "131722731" "subst" "51" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 06:42:33" "SLC22A5_000042" "g.131722731C>T" "" "{PMID:16652335:16652335}" "" "rs386134208" "subst" "0" "; clinvar; ensembl;" "5.400" "" "" "" "" "MSCV_0001107" "" "0000001108" "0" "99" "5" "131722736" "131722736" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:20" "SLC22A5_000043" "g.131722736C>T" "" "{PMID:10425211:10425211};{PMID:10051646:10051646};{PMID:10480371:10480371}" "" "rs121908886" "subst" "0" "; clinvar; ensembl;" "2.430" "" "" "" "" "MSCV_0001108" "" "0000001109" "0" "99" "5" "131722737" "131722737" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:20" "SLC22A5_000044" "g.131722737G>A" "" "{PMID:23757202:23757202};{PMID:16652335:16652335}" "" "rs386134210" "subst" "0" "; clinvar; ensembl;" "5.400" "" "" "" "" "MSCV_0001109" "" "0000001110" "0" "99" "5" "131722739" "131722739" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:21" "SLC22A5_000045" "g.131722739T>A" "" "{PMID:16652335:16652335};{PMID:10612840:10612840}" "" "rs72552729" "subst" "0" "; clinvar; ensembl;" "5.400" "" "" "" "" "MSCV_0001110" "" "0000001112" "0" "99" "5" "131722739" "131722739" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-07 19:08:34" "SLC22A5_000046" "g.131722739T>C" "" "{PMID:16652335:16652335};{PMID:10612840:10612840}" "" "rs72552729" "subst" "0" "; clinvar; ensembl;" "5.400" "" "" "" "" "MSCV_0001112" "" "0000001114" "0" "99" "5" "131722741" "131722741" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:23" "SLC22A5_000047" "g.131722741G>T" "" "{PMID:10545605:10545605}" "" "rs386134211" "subst" "0" "; clinvar; ensembl;" "5.400" "" "" "" "" "MSCV_0001114" "" "0000001115" "0" "99" "5" "131722757" "131722757" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-07 05:32:20" "SLC22A5_000048" "g.131722757C>T" "" "{PMID:15714519:15714519}" "" "rs386134212" "subst" "0" "; clinvar; ensembl;" "3.400" "" "" "" "" "MSCV_0001115" "" "0000001116" "0" "99" "5" "131722794" "131722794" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-06-09 18:17:44" "SLC22A5_000113" "g.131722794C>A" "" "{PMID:11058897:11058897}" "" "rs72552730" "subst" "0" "; clinvar; ensembl;" "5.400" "" "" "" "" "MSCV_0001116" "" "0000001117" "0" "77" "5" "131724669" "131724669" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-06-14 04:51:25" "SLC22A5_000112" "g.131724669del" "" "{PMID:12210323:12210323}" "" "rs386134213" "del" "0" "; ensembl;" "0.931" "" "" "" "" "MSCV_0001117" "" "0000001118" "0" "55" "5" "131724670" "131724670" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-06-09 21:08:18" "SLC22A5_000111" "g.131724670del" "" "" "" "" "del" "0" ";" "5.850" "" "" "" "" "MSCV_0001118" "" "0000001119" "0" "99" "5" "131724704" "131724704" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:55:54" "SLC22A5_000107" "g.131724704T>A" "" "" "" "rs150544263" "subst" "0" "; clinvar; ensembl;" "5.850" "" "" "" "" "MSCV_0001119" "" "0000001120" "0" "99" "5" "131724704" "131724704" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-06 04:53:30" "SLC22A5_000108" "g.131724704T>C" "" "" "" "rs150544263" "subst" "0" "; clinvar; ensembl;" "5.850" "" "" "" "" "MSCV_0001120" "" "0000001122" "0" "99" "5" "131724712" "131724712" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-05-13 23:54:16" "SLC22A5_000109" "g.131724712T>C" "" "{PMID:11058897:11058897}" "" "rs68018207" "subst" "0" "; clinvar; ensembl;" "5.850" "" "" "" "" "MSCV_0001122" "" "0000001123" "0" "99" "5" "131726417" "131726417" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:55:56" "SLC22A5_000110" "g.131726417T>C" "" "" "" "rs386134214" "subst" "0" "; clinvar; ensembl;" "5.950" "" "" "" "" "MSCV_0001123" "" "0000001124" "0" "99" "5" "131726490" "131726490" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:20" "SLC22A5_000085" "g.131726490T>G" "" "{PMID:12204000:12204000}" "" "rs72552731" "subst" "0" "; clinvar; ensembl;" "-7.750" "" "" "" "" "MSCV_0001124" "" "0000001125" "0" "77" "5" "131726504" "131726506" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:20" "SLC22A5_000086" "g.131726504_131726506del" "" "" "" "rs386134215" "del" "0" "; ensembl;" "" "" "" "" "" "MSCV_0001125" "" "0000001126" "0" "55" "5" "131726510" "131726512" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:21" "SLC22A5_000087" "g.131726510_131726512del" "" "" "" "" "del" "0" ";" "" "" "" "" "" "MSCV_0001126" "" "0000001127" "0" "99" "5" "131726522" "131726522" "subst" "35" "0.000153775" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:21" "SLC22A5_000088" "g.131726522C>T" "" "{PMID:16652335:16652335};{PMID:23757202:23757202}" "" "rs144547521" "subst" "0" "; clinvar; ensembl;" "6.170" "" "" "" "" "MSCV_0001127" "" "0000001128" "0" "99" "5" "131726524" "131726524" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:22" "SLC22A5_000089" "g.131726524C>T" "" "" "" "rs267607054" "subst" "0" "; clinvar; ensembl;" "6.170" "" "" "" "" "MSCV_0001128" "" "0000001129" "0" "99" "5" "131726525" "131726525" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:23" "SLC22A5_000090" "g.131726525G>A" "" "{PMID:11715001:11715001}" "" "rs121908891" "subst" "0" "; clinvar; ensembl;" "6.170" "" "" "" "" "MSCV_0001129" "" "0000001130" "0" "55" "5" "131726530" "131726531" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:23" "SLC22A5_000091" "g.131726530_131726531insA" "" "{PMID:23757202:23757202};{PMID:10051646:10051646}" "" "rs121908887" "ins" "0" ";" "" "" "" "" "" "MSCV_0001130" "" "0000001131" "0" "99" "5" "131726531" "131726531" "dup" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:24" "SLC22A5_000092" "g.131726531dup" "" "{PMID:23757202:23757202};{PMID:10051646:10051646}" "" "rs121908887" "dup" "0" "; Ensembl;" "4.950" "" "" "" "" "MSCV_0001131" "" "0000001132" "0" "99" "5" "131726599" "131726619" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:24" "SLC22A5_000093" "g.131726599_131726619del" "" "{PMID:15714519:15714519}" "" "rs386134216" "del" "0" "; clinvar; ensembl;" "" "" "" "" "" "MSCV_0001132" "" "0000001133" "0" "99" "5" "131728091" "131728091" "subst" "35" "0.0310626" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-10-08 04:12:35" "SLC22A5_000094" "g.131728091A>G" "" "" "" "rs11568515" "subst" "0" "; clinvar; ensembl;" "0.076" "" "" "" "" "MSCV_0001133" "" "0000001134" "0" "99" "5" "131728159" "131728159" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-06-03 02:39:01" "SLC22A5_000095" "g.131728159del" "" "{PMID:10051646:10051646}" "" "rs386134217" "del" "0" "; clinvar; ensembl;" "0.131" "" "" "" "" "MSCV_0001134" "" "0000001135" "0" "99" "5" "131728176" "131728176" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:26" "SLC22A5_000096" "g.131728176C>T" "" "{PMID:12210323:12210323}" "" "rs72552732" "subst" "0" "; clinvar; ensembl;" "6.170" "" "" "" "" "MSCV_0001135" "" "0000001136" "0" "99" "5" "131728181" "131728182" "delins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:27" "SLC22A5_000097" "g.131728181_131728182delinsAT" "" "" "" "rs267607053" "delins" "0" "; clinvar; ensembl;" "" "" "" "" "" "MSCV_0001136" "" "0000001138" "0" "99" "5" "131728193" "131728193" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:28" "SLC22A5_000098" "g.131728193G>T" "" "{PMID:10612840:10612840}" "" "rs72552733" "subst" "0" "; clinvar; ensembl;" "6.170" "" "" "" "" "MSCV_0001138" "" "0000001139" "0" "99" "5" "131728197" "131728197" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:29" "SLC22A5_000099" "g.131728197A>G" "" "{PMID:12408185:12408185}" "" "rs386134218" "subst" "0" "; clinvar; ensembl;" "6.170" "" "" "" "" "MSCV_0001139" "" "0000001140" "0" "99" "5" "131728199" "131728199" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:29" "SLC22A5_000100" "g.131728199G>T" "" "" "" "rs386134219" "subst" "0" "; clinvar; ensembl;" "6.170" "" "" "" "" "MSCV_0001140" "" "0000001141" "0" "99" "5" "131728202" "131728202" "subst" "35" "0.0012302" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:30" "SLC22A5_000101" "g.131728202T>G" "" "{PMID:23757202:23757202};{PMID:14665638:14665638}" "" "rs11568514" "subst" "0" "; clinvar; ensembl;" "6.170" "" "" "" "" "MSCV_0001141" "" "0000001142" "0" "99" "5" "131728211" "131728211" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:31" "SLC22A5_000102" "g.131728211G>A" "" "{PMID:10679939:10679939}" "" "rs72552734" "subst" "0" "; clinvar; ensembl;" "6.170" "" "" "" "" "MSCV_0001142" "" "0000001143" "0" "99" "5" "131728249" "131728266" "delins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:31" "SLC22A5_000103" "g.131728249_131728266delinsCA" "" "" "" "rs386134220" "delins" "0" "; clinvar; ensembl;" "" "" "" "" "" "MSCV_0001143" "" "0000001144" "0" "99" "5" "131728257" "131728257" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:32" "SLC22A5_000104" "g.131728257C>G" "" "{PMID:23757202:23757202};{PMID:10545605:10545605}" "" "rs60376624" "subst" "0" "; clinvar; ensembl;" "6.040" "" "" "" "" "MSCV_0001144" "" "0000001145" "0" "99" "5" "131728260" "131728260" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:32" "SLC22A5_000105" "g.131728260C>G" "" "{PMID:12210323:12210323}" "" "rs386134221" "subst" "0" "; clinvar; ensembl;" "-0.847" "" "" "" "" "MSCV_0001145" "" "0000001146" "0" "99" "5" "131728266" "131728266" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:33" "SLC22A5_000106" "g.131728266C>T" "" "{PMID:12210323:12210323}" "" "rs386134222" "subst" "0" "; clinvar; ensembl;" "6.040" "" "" "" "" "MSCV_0001146" "" "0000001147" "0" "99" "5" "131728269" "131728269" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:48:59" "SLC22A5_000073" "g.131728269G>A" "" "{PMID:14605509:14605509}" "" "rs386134223" "subst" "0" "; clinvar; ensembl;" "6.040" "" "" "" "" "MSCV_0001147" "" "0000001148" "0" "99" "5" "131728290" "131728290" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:00" "SLC22A5_000074" "g.131728290C>T" "" "{PMID:10072434:10072434}" "" "rs72552735" "subst" "0" "; clinvar; ensembl;" "6.040" "" "" "" "" "MSCV_0001148" "" "0000001149" "0" "99" "5" "131728298" "131728298" "subst" "35" "0.000461326" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:01" "SLC22A5_000075" "g.131728298G>A" "" "{PMID:16931768:16931768}" "" "rs11568513" "subst" "0" "; clinvar; ensembl;" "1.020" "" "" "" "" "MSCV_0001149" "" "0000001150" "0" "99" "5" "131728298" "131728298" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:01" "SLC22A5_000076" "g.131728298G>T" "" "{PMID:16931768:16931768}" "" "rs11568513" "subst" "0" "; clinvar; ensembl;" "1.020" "" "" "" "" "MSCV_0001150" "" "0000001151" "0" "99" "5" "131729367" "131729367" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:02" "SLC22A5_000077" "g.131729367G>A" "" "{PMID:9916797:9916797}" "" "rs386134224" "subst" "0" "; clinvar; ensembl;" "4.380" "" "" "" "" "MSCV_0001151" "" "0000001152" "0" "99" "5" "131729380" "131729380" "subst" "35" "0.00407504" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:02" "SLC22A5_000078" "g.131729380G>A" "" "{PMID:16652335:16652335};{PMID:23757202:23757202}" "" "rs28383481" "subst" "0" "; clinvar; ensembl;" "5.770" "" "" "" "" "MSCV_0001152" "" "0000001153" "0" "55" "5" "131729472" "131729473" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:03" "SLC22A5_000079" "g.131729472_131729473insACAC" "" "{PMID:17126586:17126586}" "" "rs386134225" "ins" "0" ";" "" "" "" "" "" "MSCV_0001153" "" "0000001154" "0" "55" "5" "131729476" "131729477" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:04" "SLC22A5_000080" "g.131729476_131729477insACAC" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0001154" "" "0000001155" "0" "99" "5" "131729504" "131729504" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:05" "SLC22A5_000081" "g.131729504G>T" "" "" "" "rs386134226" "subst" "0" "; clinvar; ensembl;" "5.870" "" "" "" "" "MSCV_0001155" "" "0000001156" "0" "11" "5" "131729839" "131729839" "subst" "35" "0.0306013" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:05" "SLC22A5_000082" "g.131729839A>C" "" "" "" "rs11568523" "subst" "0" "; clinvar; ensembl;" "1.140" "" "" "" "" "MSCV_0001156" "" "0000001157" "0" "11" "5" "131729935" "131729935" "subst" "35" "0.0236045" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:06" "SLC22A5_000083" "g.131729935C>T" "" "{PMID:15714519:15714519}" "" "rs11568525" "subst" "0" "; clinvar; ensembl;" "4.380" "" "" "" "" "MSCV_0001157" "" "0000001158" "0" "77" "5" "131730011" "131730011" "subst" "35" "0.088267" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:07" "SLC22A5_000084" "g.131730011C>T" "" "" "" "rs1045020" "subst" "0" "; clinvar;" "1.030" "" "" "" "" "MSCV_0001158" "" "0000003137" "0" "99" "5" "131705574" "131705686" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2015-05-13 13:20:44" "SLC22A5_000122" "g.131705574_131705686del" "" "" "" "" "del" "0" "; clinvar;" "" "" "" "" "" "MSCV_0003137" "" "0000003143" "0" "77" "5" "131705668" "131705669" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:49:53" "SLC22A5_000121" "g.131705668_131705669insCG" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0003143" "" "0000003192" "0" "77" "5" "131721047" "131721047" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:40:34" "SLC22A5_000119" "g.131721047G>A" "" "" "" "rs185551386" "subst" "0" "; ensembl;" "5.900" "" "" "" "" "MSCV_0003192" "" "0000003196" "0" "99" "5" "131721127" "131721127" "subst" "35" "0.000153775" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2016-06-30 09:48:06" "SLC22A5_000120" "g.131721127C>A" "" "{PMID:12204000:12204000};{PMID:17594400:17594400};{PMID:23757202:23757202};{PMID:15303004:15303004};{PMID:9700603:9700603}" "" "rs121908893" "subst" "0" "; clinvar; ensembl;" "-4.330" "" "" "" "" "MSCV_0003196" "" "0000003227" "0" "00" "5" "131726531" "131726532" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2015-11-24 23:12:04" "SLC22A5_000118" "g.131726531_131726532insAT" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0003227" "" "0000005229" "0" "99" "5" "131726531" "131726531" "dup" "35" "0" "00000" "9" "00001" "2015-03-12 18:41:14" "00000" "2018-09-07 06:25:38" "SLC22A5_000092" "g.131726531dup" "" "{PMID:23757202:23757202};{PMID:10051646:10051646}" "" "rs121908887" "dup" "0" "; ensembl;" "4.950" "" "" "" "" "MSCV_0005229" "" "0000005235" "0" "77" "5" "131729472" "131729473" "ins" "35" "0" "00000" "9" "00001" "2015-03-12 18:41:14" "00000" "2015-03-12 18:46:06" "SLC22A5_000079" "g.131729472_131729473insACAC" "" "{PMID:17126586:17126586}" "" "rs386134225" "ins" "0" "; ensembl;" "" "" "" "" "" "MSCV_0005235" "" "0000005236" "0" "00" "5" "131705929" "131705930" "ins" "35" "0" "00000" "9" "00001" "2015-03-12 18:41:14" "00000" "2015-03-12 18:46:13" "SLC22A5_000026" "g.131705929_131705930insGGCTCGCCACC" "" "" "" "rs386134189" "ins" "0" "; ensembl;" "" "" "" "" "" "MSCV_0005236" "" "0000005237" "0" "99" "5" "131705917" "131705918" "ins" "35" "0" "00000" "9" "00001" "2015-03-12 18:41:14" "00000" "2018-11-06 07:34:23" "SLC22A5_000114" "g.131705917_131705918insGGCTCGCCACC" "" "{PMID:11715001:11715001}" "" "rs377767449" "ins" "0" "; ensembl;" "" "" "" "" "" "MSCV_0005237" "" "0000005238" "0" "00" "5" "131705667" "131705668" "ins" "51" "0" "00000" "9" "00001" "2015-03-12 18:41:14" "00000" "2023-04-24 06:42:33" "SLC22A5_000053" "g.131705667_131705668insC" "" "{PMID:9916797:9916797}" "" "rs377767443" "ins" "0" "; ensembl;" "" "" "" "" "" "MSCV_0005238" "" "0000021350" "0" "11" "5" "131705458" "131705458" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-11 17:31:53" "SLC22A5_000232" "g.131705458C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021350" "" "0000021352" "0" "00" "5" "131705516" "131705516" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:39:13" "SLC22A5_000117" "g.131705516G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001038" "" "0000021353" "0" "33" "5" "131705526" "131705526" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:32:25" "SLC22A5_000230" "g.131705526G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021353" "" "0000021354" "0" "55" "5" "131705547" "131705547" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:32:34" "SLC22A5_000231" "g.131705547G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021354" "" "0000021355" "0" "33" "5" "131705558" "131705558" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:19" "SLC22A5_000190" "g.131705558G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021355" "" "0000021356" "0" "00" "5" "131705574" "131705672" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 06:42:33" "SLC22A5_000124" "g.131705574_131705672del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021356" "" "0000021357" "0" "33" "5" "131705587" "131705587" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:44:38" "SLC22A5_000049" "g.131705587C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001039" "" "0000021358" "0" "33" "5" "131705588" "131705588" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:44:51" "SLC22A5_000050" "g.131705588G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001040" "" "0000021360" "0" "55" "5" "131705635" "131705635" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:01" "SLC22A5_000125" "g.131705635G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021360" "" "0000021361" "0" "55" "5" "131705640" "131705640" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:09" "SLC22A5_000126" "g.131705640C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021361" "" "0000021362" "0" "00" "5" "131705667" "131705668" "ins" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 06:42:33" "SLC22A5_000053" "g.131705667_131705668insC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001042" "" "0000021363" "0" "77" "5" "131705667" "131705667" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:15" "SLC22A5_000052" "g.131705667G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001043" "" "0000021364" "0" "00" "5" "131705676" "131705676" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 06:42:33" "SLC22A5_000055" "g.131705676C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001045" "" "0000021365" "0" "55" "5" "131705698" "131705698" "subst" "35" "0.00107643" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:37" "SLC22A5_000056" "g.131705698G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001046" "" "0000021366" "0" "99" "5" "131705707" "131705707" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:41" "SLC22A5_000057" "g.131705707G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001047" "" "0000021367" "0" "99" "5" "131705715" "131705715" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 06:42:33" "SLC22A5_000058" "g.131705715C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001048" "" "0000021368" "0" "00" "5" "131705720" "131705720" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:50" "SLC22A5_000059" "g.131705720G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001049" "" "0000021369" "0" "11" "5" "131705723" "131705723" "subst" "35" "0.00499846" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:55" "SLC22A5_000060" "g.131705723T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001050" "" "0000021370" "0" "00" "5" "131705726" "131705728" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:59" "SLC22A5_000131" "g.131705726_131705728del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021370" "" "0000021371" "0" "33" "5" "131705739" "131705739" "subst" "35" "0.000845763" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:03" "SLC22A5_000133" "g.131705739C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021371" "" "0000021372" "0" "00" "5" "131705747" "131705747" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:07" "SLC22A5_000063" "g.131705747G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001053" "" "0000021373" "0" "33" "5" "131705757" "131705757" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:12" "SLC22A5_000134" "g.131705757C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021373" "" "0000021374" "0" "99" "5" "131705759" "131705759" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:16" "SLC22A5_000064" "g.131705759A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001054" "" "0000021375" "0" "55" "5" "131705797" "131705797" "subst" "35" "0.0000769112" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:21" "SLC22A5_000136" "g.131705797A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021375" "" "0000021376" "0" "99" "5" "131705800" "131705800" "subst" "35" "0.000615385" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:25" "SLC22A5_000066" "g.131705800C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001057" "" "0000021377" "0" "99" "5" "131705800" "131705800" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-02 05:23:13" "SLC22A5_000065" "g.131705800C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001055" "" "0000021378" "0" "55" "5" "131705801" "131705801" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:33" "SLC22A5_000067" "g.131705801C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001058" "" "0000021379" "0" "77" "5" "131705812" "131705812" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:36" "SLC22A5_000068" "g.131705812del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001059" "" "0000021380" "0" "00" "5" "131705819" "131705820" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:39" "SLC22A5_000139" "g.131705819_131705820insGCCGGAC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021380" "" "0000021381" "0" "00" "5" "131705871" "131705871" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:24" "SLC22A5_000069" "g.131705871G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001060" "" "0000021382" "0" "55" "5" "131705872" "131705872" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:27" "SLC22A5_000191" "g.131705872C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021382" "" "0000021383" "0" "00" "5" "131705896" "131705896" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-12-25 12:15:46" "SLC22A5_000070" "g.131705896del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001061" "" "0000021384" "0" "00" "5" "131705910" "131705910" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:33" "SLC22A5_000071" "g.131705910C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001062" "" "0000021385" "0" "99" "5" "131705912" "131705912" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:36" "SLC22A5_000072" "g.131705912G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001063" "" "0000021386" "0" "00" "5" "131705914" "131705915" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:39" "SLC22A5_000192" "g.131705914_131705915insACCGGCTCGCC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021386" "" "0000021387" "0" "00" "5" "131705929" "131705930" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:42" "SLC22A5_000026" "g.131705929_131705930insGGCTCGCCACC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001066" "" "0000021388" "0" "55" "5" "131705936" "131705936" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:45" "SLC22A5_000193" "g.131705936A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021388" "" "0000021389" "0" "00" "5" "131705942" "131705942" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 06:42:33" "SLC22A5_000027" "g.131705942C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001067" "" "0000021390" "0" "33" "5" "131705943" "131705943" "subst" "35" "0.000237906" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:51" "SLC22A5_000194" "g.131705943G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021390" "" "0000021391" "0" "00" "5" "131705947" "131705947" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:54" "SLC22A5_000028" "g.131705947C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001068" "" "0000021393" "0" "11" "5" "131705949" "131705949" "subst" "35" "0.349701" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-06 21:10:43" "SLC22A5_000195" "g.131705949T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021393" "" "0000021394" "0" "33" "5" "131705951" "131705951" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:59" "SLC22A5_000029" "g.131705951G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001069" "" "0000021395" "0" "99" "5" "131706002" "131706002" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 06:42:33" "SLC22A5_000196" "g.131706002G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021395" "" "0000021396" "0" "00" "5" "131706008" "131706008" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:04:08" "SLC22A5_000030" "g.131706008A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001070" "" "0000021397" "0" "99" "5" "131706025" "131706025" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:04:11" "SLC22A5_000197" "g.131706025C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021397" "" "0000021398" "0" "77" "5" "131706028" "131706028" "subst" "35" "0.000230876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:04:16" "SLC22A5_000031" "g.131706028G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001071" "" "0000021399" "0" "77" "5" "131706058" "131706058" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:04:19" "SLC22A5_000198" "g.131706058G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021399" "" "0000021400" "0" "11" "5" "131706074" "131706074" "subst" "35" "0.0265521" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:04:24" "SLC22A5_000032" "g.131706074G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001072" "" "0000021401" "0" "99" "5" "131714054" "131714054" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:04:28" "SLC22A5_000199" "g.131714054T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021401" "" "0000021402" "0" "99" "5" "131714068" "131714068" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:04:32" "SLC22A5_000200" "g.131714068A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021402" "" "0000021403" "0" "77" "5" "131714069" "131714069" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:04:35" "SLC22A5_000201" "g.131714069G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021403" "" "0000021404" "0" "77" "5" "131714072" "131714072" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:04:38" "SLC22A5_000033" "g.131714072G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001073" "" "0000021405" "0" "77" "5" "131714090" "131714090" "subst" "35" "0.000615101" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:25:17" "SLC22A5_000001" "g.131714090C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001074" "" "0000021406" "0" "99" "5" "131714100" "131714100" "subst" "35" "0.000384438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:12:50" "SLC22A5_000002" "g.131714100G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001075" "" "0000021407" "0" "33" "5" "131714106" "131714106" "subst" "35" "0.028064" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-07-25 01:13:15" "SLC22A5_000003" "g.131714106C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001076" "" "0000021408" "0" "33" "5" "131714127" "131714127" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:12:55" "SLC22A5_000004" "g.131714127G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001077" "" "0000021409" "0" "00" "5" "131714129" "131714129" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:12:58" "SLC22A5_000005" "g.131714129G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001078" "" "0000021410" "0" "00" "5" "131714131" "131714132" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:13:03" "SLC22A5_000225" "g.131714131_131714132del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021410" "" "0000021411" "0" "77" "5" "131714131" "131714131" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:13:00" "SLC22A5_000224" "g.131714131G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021411" "" "0000021412" "0" "77" "5" "131714167" "131714167" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:13:06" "SLC22A5_000226" "g.131714167C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021412" "" "0000021413" "0" "77" "5" "131719838" "131719838" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:13:09" "SLC22A5_000227" "g.131719838G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021413" "" "0000021414" "0" "99" "5" "131719846" "131719846" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:13:11" "SLC22A5_000008" "g.131719846C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001081" "" "0000021415" "0" "99" "5" "131719847" "131719847" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:13:15" "SLC22A5_000009" "g.131719847G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001082" "" "0000021416" "0" "55" "5" "131719863" "131719863" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:13:18" "SLC22A5_000228" "g.131719863C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021416" "" "0000021417" "0" "77" "5" "131719864" "131719864" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:13:21" "SLC22A5_000229" "g.131719864G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021417" "" "0000021418" "0" "00" "5" "131719876" "131719876" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:13:24" "SLC22A5_000010" "g.131719876A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001083" "" "0000021419" "0" "00" "5" "131719898" "131719898" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:13:26" "SLC22A5_000011" "g.131719898T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001084" "" "0000021420" "0" "55" "5" "131719933" "131719933" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:26:57" "SLC22A5_000216" "g.131719933G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021420" "" "0000021421" "0" "55" "5" "131719946" "131719946" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:27:00" "SLC22A5_000217" "g.131719946T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021421" "" "0000021422" "0" "77" "5" "131719955" "131719955" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:27:03" "SLC22A5_000218" "g.131719955T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021422" "" "0000021423" "0" "55" "5" "131719970" "131719970" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:27:05" "SLC22A5_000012" "g.131719970A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001085" "" "0000021424" "0" "77" "5" "131719973" "131719973" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:27:08" "SLC22A5_000013" "g.131719973A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001086" "" "0000021425" "0" "77" "5" "131719982" "131719982" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:27:11" "SLC22A5_000014" "g.131719982C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001087" "" "0000021426" "0" "99" "5" "131719994" "131719994" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:27:14" "SLC22A5_000015" "g.131719994G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001088" "" "0000021427" "0" "11" "5" "131719999" "131719999" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:27:16" "SLC22A5_000017" "g.131719999A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001090" "" "0000021428" "0" "00" "5" "131720070" "131720070" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:27:19" "SLC22A5_000018" "g.131720070A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001091" "" "0000021429" "0" "55" "5" "131721010" "131721010" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:27:22" "SLC22A5_000219" "g.131721010T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021429" "" "0000021430" "0" "00" "5" "131721018" "131721018" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:27:25" "SLC22A5_000019" "g.131721018A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001092" "" "0000021431" "0" "00" "5" "131721019" "131721117" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:27:28" "SLC22A5_000220" "g.131721019_131721117del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021431" "" "0000021432" "0" "77" "5" "131721026" "131721026" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:27:30" "SLC22A5_000221" "g.131721026A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021432" "" "0000021433" "0" "00" "5" "131721041" "131721041" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:27:34" "SLC22A5_000021" "g.131721041C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001094" "" "0000021434" "0" "99" "5" "131721047" "131721047" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:27:38" "SLC22A5_000119" "g.131721047G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0003192" "" "0000021435" "0" "55" "5" "131721055" "131721055" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:27:41" "SLC22A5_000222" "g.131721055T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021435" "" "0000021436" "0" "55" "5" "131721059" "131721059" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:27:43" "SLC22A5_000022" "g.131721059C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001095" "" "0000021437" "0" "99" "5" "131721062" "131721062" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:27:47" "SLC22A5_000023" "g.131721062C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001096" "" "0000021438" "0" "00" "5" "131721092" "131721092" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:27:49" "SLC22A5_000024" "g.131721092G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001097" "" "0000021439" "0" "99" "5" "131721121" "131721121" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:27:52" "SLC22A5_000223" "g.131721121del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021439" "" "0000021440" "0" "11" "5" "131721127" "131721127" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:25:48" "SLC22A5_000120" "g.131721127C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0003196" "" "0000021441" "0" "11" "5" "131721127" "131721127" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:25:51" "SLC22A5_000025" "g.131721127C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001098" "" "0000021442" "0" "55" "5" "131721128" "131721128" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:25:54" "SLC22A5_000034" "g.131721128G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001099" "" "0000021443" "0" "55" "5" "131721130" "131721130" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:25:57" "SLC22A5_000202" "g.131721130G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021443" "" "0000021444" "0" "00" "5" "131721135" "131721135" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:25:59" "SLC22A5_000035" "g.131721135G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001100" "" "0000021445" "0" "00" "5" "131721136" "131721136" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:26:02" "SLC22A5_000036" "g.131721136C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001101" "" "0000021446" "0" "55" "5" "131721158" "131721158" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:26:05" "SLC22A5_000203" "g.131721158C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021446" "" "0000021447" "0" "55" "5" "131721158" "131721158" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:26:07" "SLC22A5_000204" "g.131721158C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021447" "" "0000021448" "0" "33" "5" "131721165" "131721165" "subst" "35" "0.000384438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:26:10" "SLC22A5_000205" "g.131721165G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021448" "" "0000021449" "0" "11" "5" "131721173" "131721173" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:26:13" "SLC22A5_000037" "g.131721173del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001102" "" "0000021451" "0" "11" "5" "131721174" "131721174" "subst" "35" "0.378287" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:26:16" "SLC22A5_000038" "g.131721174A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001103" "" "0000021452" "0" "55" "5" "131721185" "131721185" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:26:19" "SLC22A5_000206" "g.131721185T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021452" "" "0000021454" "0" "11" "5" "131721204" "131721204" "subst" "35" "0.373904" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:10" "SLC22A5_000039" "g.131721204T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001104" "" "0000021455" "0" "77" "5" "131722716" "131722716" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:18" "SLC22A5_000140" "g.131722716G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021455" "" "0000021456" "0" "00" "5" "131722717" "131722717" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:23" "SLC22A5_000040" "g.131722717G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001105" "" "0000021457" "0" "00" "5" "131722731" "131722731" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-30 14:57:02" "SLC22A5_000041" "g.131722731del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001106" "" "0000021458" "0" "00" "5" "131722731" "131722731" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:34" "SLC22A5_000042" "g.131722731C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001107" "" "0000021459" "0" "99" "5" "131722736" "131722736" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:39" "SLC22A5_000043" "g.131722736C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001108" "" "0000021460" "0" "99" "5" "131722737" "131722737" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:45" "SLC22A5_000044" "g.131722737G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001109" "" "0000021461" "0" "00" "5" "131722739" "131722739" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:51" "SLC22A5_000046" "g.131722739T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001112" "" "0000021462" "0" "00" "5" "131722739" "131722739" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:57" "SLC22A5_000045" "g.131722739T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001110" "" "0000021463" "0" "00" "5" "131722741" "131722741" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:02" "SLC22A5_000047" "g.131722741G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001114" "" "0000021464" "0" "33" "5" "131722744" "131722744" "subst" "35" "0.000691988" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:07" "SLC22A5_000149" "g.131722744C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021464" "" "0000021465" "0" "99" "5" "131722757" "131722757" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:12" "SLC22A5_000048" "g.131722757C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001115" "" "0000021466" "0" "99" "5" "131722773" "131722773" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:17" "SLC22A5_000152" "g.131722773del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021466" "" "0000021467" "0" "00" "5" "131722794" "131722794" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:22" "SLC22A5_000113" "g.131722794C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001116" "" "0000021468" "0" "33" "5" "131722796" "131722796" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:30" "SLC22A5_000154" "g.131722796A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021468" "" "0000021469" "0" "33" "5" "131722826" "131722826" "subst" "35" "0.00146086" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:39" "SLC22A5_000155" "g.131722826A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021469" "" "0000021470" "0" "55" "5" "131722831" "131722831" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:43" "SLC22A5_000156" "g.131722831T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021470" "" "0000021471" "0" "55" "5" "131722836" "131722836" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:47" "SLC22A5_000157" "g.131722836C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021471" "" "0000021472" "0" "55" "5" "131724599" "131724599" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:51" "SLC22A5_000158" "g.131724599T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021472" "" "0000021473" "0" "55" "5" "131724641" "131724641" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:55" "SLC22A5_000159" "g.131724641A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021473" "" "0000021474" "0" "00" "5" "131724669" "131724669" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:58" "SLC22A5_000112" "g.131724669del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001117" "" "0000021475" "0" "55" "5" "131724671" "131724671" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:02" "SLC22A5_000160" "g.131724671C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021475" "" "0000021476" "0" "55" "5" "131724704" "131724704" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:05" "SLC22A5_000108" "g.131724704T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001120" "" "0000021477" "0" "99" "5" "131724712" "131724712" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:09" "SLC22A5_000109" "g.131724712T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001122" "" "0000021478" "0" "55" "5" "131726414" "131726414" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:26:22" "SLC22A5_000207" "g.131726414C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021478" "" "0000021479" "0" "55" "5" "131726417" "131726417" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:26:24" "SLC22A5_000110" "g.131726417T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001123" "" "0000021480" "0" "33" "5" "131726442" "131726442" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:26:29" "SLC22A5_000208" "g.131726442C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021480" "" "0000021481" "0" "55" "5" "131726449" "131726449" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:26:31" "SLC22A5_000209" "g.131726449G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021481" "" "0000021482" "0" "33" "5" "131726454" "131726454" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:26:34" "SLC22A5_000210" "g.131726454C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021482" "" "0000021483" "0" "55" "5" "131726471" "131726471" "subst" "35" "0.000538213" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:26:36" "SLC22A5_000211" "g.131726471T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021483" "" "0000021484" "0" "00" "5" "131726490" "131726490" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:26:39" "SLC22A5_000085" "g.131726490T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001124" "" "0000021485" "0" "99" "5" "131726502" "131726504" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:26:48" "SLC22A5_000213" "g.131726502_131726504del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021485" "" "0000021486" "0" "99" "5" "131726501" "131726501" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:26:42" "SLC22A5_000212" "g.131726501G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021486" "" "0000021487" "0" "77" "5" "131726514" "131726514" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:26:51" "SLC22A5_000214" "g.131726514A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021487" "" "0000021488" "0" "99" "5" "131726517" "131726517" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:26:54" "SLC22A5_000215" "g.131726517T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021488" "" "0000021489" "0" "99" "5" "131726522" "131726522" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:26:56" "SLC22A5_000088" "g.131726522C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001127" "" "0000021490" "0" "99" "5" "131726524" "131726524" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:42" "SLC22A5_000089" "g.131726524C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001128" "" "0000021491" "0" "99" "5" "131726525" "131726525" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:44" "SLC22A5_000090" "g.131726525G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001129" "" "0000021492" "0" "99" "5" "131726530" "131726531" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:48" "SLC22A5_000091" "g.131726530_131726531insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001130" "" "0000021493" "0" "55" "5" "131726548" "131726548" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:51" "SLC22A5_000176" "g.131726548C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021493" "" "0000021494" "0" "55" "5" "131726554" "131726554" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:54" "SLC22A5_000177" "g.131726554C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021494" "" "0000021495" "0" "55" "5" "131726567" "131726567" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:57" "SLC22A5_000178" "g.131726567T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021495" "" "0000021496" "0" "33" "5" "131726578" "131726578" "subst" "35" "0.00461326" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:01" "SLC22A5_000179" "g.131726578A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021496" "" "0000021497" "0" "77" "5" "131726578" "131726579" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:04" "SLC22A5_000180" "g.131726578_131726579insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021497" "" "0000021498" "0" "99" "5" "131726581" "131726581" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:07" "SLC22A5_000181" "g.131726581C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021498" "" "0000021499" "0" "00" "5" "131726599" "131726619" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:10" "SLC22A5_000093" "g.131726599_131726619del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001132" "" "0000021500" "0" "00" "5" "131728091" "131728091" "subst" "35" "0.0310626" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:13" "SLC22A5_000094" "g.131728091A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001133" "" "0000021501" "0" "33" "5" "131728153" "131728153" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:16" "SLC22A5_000182" "g.131728153G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021501" "" "0000021502" "0" "00" "5" "131728159" "131728159" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:44:49" "SLC22A5_000095" "g.131728159del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001134" "" "0000021503" "0" "99" "5" "131728176" "131728176" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:44:56" "SLC22A5_000096" "g.131728176C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001135" "" "0000021504" "0" "99" "5" "131728181" "131728182" "delins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:04" "SLC22A5_000097" "g.131728181_131728182delinsAT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001136" "" "0000021505" "0" "00" "5" "131728193" "131728193" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:11" "SLC22A5_000098" "g.131728193G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001138" "" "0000021506" "0" "99" "5" "131728197" "131728197" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:18" "SLC22A5_000099" "g.131728197A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001139" "" "0000021507" "0" "33" "5" "131728198" "131728198" "subst" "35" "0.000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:24" "SLC22A5_000127" "g.131728198C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021507" "" "0000021508" "0" "00" "5" "131728199" "131728199" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:31" "SLC22A5_000100" "g.131728199G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001140" "" "0000021509" "0" "77" "5" "131728202" "131728202" "subst" "35" "0.0012302" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:37" "SLC22A5_000101" "g.131728202T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001141" "" "0000021510" "0" "77" "5" "131728211" "131728211" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:42" "SLC22A5_000102" "g.131728211G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001142" "" "0000021511" "0" "00" "5" "131728219" "131728220" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:47" "SLC22A5_000128" "g.131728219_131728220insC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021511" "" "0000021512" "0" "33" "5" "131728225" "131728225" "subst" "35" "0.00453637" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:51" "SLC22A5_000129" "g.131728225A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021512" "" "0000021513" "0" "77" "5" "131728234" "131728234" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:55" "SLC22A5_000130" "g.131728234A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021513" "" "0000021514" "0" "33" "5" "131728237" "131728237" "subst" "35" "0.000922651" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:00" "SLC22A5_000132" "g.131728237C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021514" "" "0000021515" "0" "00" "5" "131728249" "131728266" "delins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:03" "SLC22A5_000103" "g.131728249_131728266delinsCA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001143" "" "0000021516" "0" "99" "5" "131728257" "131728257" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:09" "SLC22A5_000104" "g.131728257C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001144" "" "0000021517" "0" "77" "5" "131728260" "131728260" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:12" "SLC22A5_000105" "g.131728260C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001145" "" "0000021518" "0" "77" "5" "131728260" "131728260" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:15" "SLC22A5_000135" "g.131728260C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021518" "" "0000021519" "0" "99" "5" "131728266" "131728266" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:20" "SLC22A5_000106" "g.131728266C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001146" "" "0000021520" "0" "99" "5" "131728268" "131728268" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:24" "SLC22A5_000137" "g.131728268C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021520" "" "0000021521" "0" "99" "5" "131728269" "131728269" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:28" "SLC22A5_000073" "g.131728269G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001147" "" "0000021522" "0" "99" "5" "131728290" "131728290" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:32" "SLC22A5_000074" "g.131728290C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001148" "" "0000021523" "0" "33" "5" "131728291" "131728291" "subst" "35" "0.00299862" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:35" "SLC22A5_000138" "g.131728291C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021523" "" "0000021524" "0" "33" "5" "131728298" "131728298" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:39" "SLC22A5_000076" "g.131728298G>T" "" "" "" "" "" "0" "; 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clinvar;" "" "" "" "" "" "" "" "0000026356" "0" "00" "5" "131705798" "131705798" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:05:13" "SLC22A5_000273" "g.131705798del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026357" "0" "00" "5" "131705849" "131705849" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-24 06:42:33" "SLC22A5_000274" "g.131705849G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026358" "0" "00" "5" "131705906" "131705906" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:05:51" "SLC22A5_000275" "g.131705906G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026359" "0" "00" "5" "131705911" "131705911" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:06:36" "SLC22A5_000276" "g.131705911C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026360" "0" "00" "5" "131705914" "131705915" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:06:53" "SLC22A5_000277" "g.131705914_131705915insACCGGCTCGCCACC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026361" "0" "00" "5" "131705916" "131705916" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:07:07" "SLC22A5_000278" "g.131705916C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026362" "0" "00" "5" "131705929" "131705929" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-24 06:42:33" "SLC22A5_000279" "g.131705929A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026363" "0" "00" "5" "131706055" "131706055" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:07:38" "SLC22A5_000280" "g.131706055G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026364" "0" "00" "5" "131706062" "131706062" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:07:52" "SLC22A5_000281" "g.131706062G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026365" "0" "00" "5" "131713929" "131713929" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:08:07" "SLC22A5_000282" "g.131713929T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026366" "0" "00" "5" "131714088" "131714090" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:44:18" "SLC22A5_000259" "g.131714088_131714090del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026367" "0" "00" "5" "131714091" "131714091" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-05-18 06:06:29" "SLC22A5_000261" "g.131714091G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026368" "0" "00" "5" "131714104" "131714104" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:44:52" "SLC22A5_000262" "g.131714104C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026369" "0" "00" "5" "131714123" "131714123" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:45:04" "SLC22A5_000263" "g.131714123C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026370" "0" "00" "5" "131719870" "131719870" "subst" "35" "0.000538213" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:39:18" "SLC22A5_000234" "g.131719870A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026371" "0" "00" "5" "131719879" "131719879" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:39:50" "SLC22A5_000235" "g.131719879C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026372" "0" "00" "5" "131719955" "131719955" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:02" "SLC22A5_000237" "g.131719955T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026373" "0" "00" "5" "131719992" "131719993" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:15" "SLC22A5_000239" "g.131719992_131719993insGTATGGCCATCAGGTTGGA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026374" "0" "00" "5" "131721053" "131721055" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:27" "SLC22A5_000241" "g.131721053_131721055del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026375" "0" "00" "5" "131721059" "131721059" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:38" "SLC22A5_000243" "g.131721059C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026376" "0" "00" "5" "131721073" "131721073" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:51" "SLC22A5_000245" "g.131721073T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026377" "0" "00" "5" "131721167" "131721167" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:41:03" "SLC22A5_000247" "g.131721167G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026378" "0" "00" "5" "131721178" "131721178" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:41:15" "SLC22A5_000249" "g.131721178G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026379" "0" "00" "5" "131722755" "131722757" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:41:27" "SLC22A5_000251" "g.131722755_131722757del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026380" "0" "00" "5" "131722767" "131722767" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:41:39" "SLC22A5_000252" "g.131722767A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026381" "0" "00" "5" "131722784" "131722784" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:41:52" "SLC22A5_000253" "g.131722784C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026382" "0" "00" "5" "131724611" "131724611" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:42:04" "SLC22A5_000254" "g.131724611A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026383" "0" "00" "5" "131724628" "131724628" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:42:58" "SLC22A5_000255" "g.131724628T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026384" "0" "00" "5" "131724649" "131724675" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:43:25" "SLC22A5_000256" "g.131724649_131724675del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026385" "0" "00" "5" "131724697" "131724697" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:43:38" "SLC22A5_000257" "g.131724697A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026386" "0" "00" "5" "131724714" "131724714" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:44:13" "SLC22A5_000258" "g.131724714G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026387" "0" "00" "5" "131724718" "131724718" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:44:25" "SLC22A5_000260" "g.131724718G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026388" "0" "00" "5" "131726404" "131726405" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:39:18" "SLC22A5_000233" "g.131726404_131726405insTTGGGC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026389" "0" "00" "5" "131726468" "131726468" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:39:50" "SLC22A5_000235" "g.131726468C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026390" "0" "00" "5" "131726584" "131726584" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:02" "SLC22A5_000236" "g.131726584C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026391" "0" "00" "5" "131726596" "131726617" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:13" "SLC22A5_000238" "g.131726596_131726617del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026392" "0" "00" "5" "131726597" "131726597" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:25" "SLC22A5_000240" "g.131726597G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026393" "0" "00" "5" "131729370" "131729370" "subst" "35" "0.000230663" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:37" "SLC22A5_000242" "g.131729370G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026394" "0" "00" "5" "131729375" "131729375" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:48" "SLC22A5_000244" "g.131729375C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026395" "0" "00" "5" "131729471" "131729471" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:41:01" "SLC22A5_000246" "g.131729471del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026396" "0" "00" "5" "131729950" "131729950" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:41:12" "SLC22A5_000248" "g.131729950A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026397" "0" "00" "5" "131729964" "131729964" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:41:24" "SLC22A5_000250" "g.131729964A>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 = 1174 "{{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}}" "0000001037" "00001144" "77" "-185" "0" "-185" "0" "c.-185C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001037" "00001145" "77" "-185" "0" "-185" "0" "c.-185C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001037" "00001146" "77" "-82" "-503" "-82" "-503" "c.-585C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001038" "00001144" "99" "-149" "0" "-149" "0" "c.-149G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001038" "00001145" "99" "-149" "0" "-149" "0" "c.-149G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001038" "00001146" "99" "-82" "-467" "-82" "-467" "c.-549G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001039" "00001144" "11" "-78" "0" "-78" "0" "c.-78C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001039" "00001145" "11" "-78" "0" "-78" "0" "c.-78C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001039" "00001146" "11" "-82" "-396" "-82" "-396" "c.-478C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001040" "00001144" "11" "-77" "0" "-77" "0" "c.-77G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001040" "00001145" "11" "-77" "0" "-77" "0" "c.-77G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001040" "00001146" "11" "-82" "-395" "-82" "-395" "c.-477G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001041" "00001144" "11" "-38" "0" "-38" "0" "c.-38C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001041" "00001145" "11" "-38" "0" "-38" "0" "c.-38C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001041" "00001146" "11" "-82" "-356" "-82" "-356" "c.-438C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001042" "00001144" "00" "3" "0" "4" "0" "c.3_4insC" "" "-" "r.(?)" "" "" "" "" "" "-" "0000001042" "00001145" "55" "3" "0" "4" "0" "c.3_4insC" "1/10" "p.(Arg2Profs*136)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000001042" "00001146" "00" "-82" "-316" "-82" "-315" "c.-398_-397insC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001043" "00001144" "99" "3" "0" "3" "0" "c.3G>T" "1/10" "p.?" "r.?" "possibly_damaging(0.742)" "" "initiator_codon_variant" "" "" "tolerated(0.06)" "0000001043" "00001145" "99" "3" "0" "3" "0" "c.3G>T" "1/10" "p.?" "r.?" "possibly_damaging(0.742)" "" "initiator_codon_variant" "" "" "tolerated(0.06)" "0000001043" "00001146" "99" "-82" "-316" "-82" "-316" "c.-398G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001044" "00001144" "55" "4" "0" "4" "0" "c.4dup" "" "p.(Arg2Profs*160)" "r.(?)" "" "" "" "" "" "-" "0000001044" "00001145" "55" "4" "0" "4" "0" "c.4dup" "" "p.(Arg2Profs*136)" "r.(?)" "" "" "" "" "" "-" "0000001044" "00001146" "55" "-82" "-315" "-82" "-315" "c.-397dup" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001045" "00001144" "99" "12" "0" "12" "0" "c.12C>G" "1/10" "p.(Tyr4*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001045" "00001145" "99" "12" "0" "12" "0" "c.12C>G" "1/10" "p.(Tyr4*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001045" "00001146" "99" "-82" "-307" "-82" "-307" "c.-389C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001046" "00001144" "99" "34" "0" "34" "0" "c.34G>A" "1/10" "p.(Gly12Ser)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000001046" "00001145" "99" "34" "0" "34" "0" "c.34G>A" "1/10" "p.(Gly12Ser)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000001046" "00001146" "99" "-82" "-285" "-82" "-285" "c.-367G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001047" "00001144" "99" "43" "0" "43" "0" "c.43G>T" "1/10" "p.(Gly15Trp)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001047" "00001145" "99" "43" "0" "43" "0" "c.43G>T" "1/10" "p.(Gly15Trp)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001047" "00001146" "99" "-82" "-276" "-82" "-276" "c.-358G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001048" "00001144" "99" "51" "0" "51" "0" "c.51C>G" "1/10" "p.(Phe17Leu)" "r.(?)" "possibly_damaging(0.703)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001048" "00001145" "99" "51" "0" "51" "0" "c.51C>G" "1/10" "p.(Phe17Leu)" "r.(?)" "possibly_damaging(0.703)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001048" "00001146" "99" "-82" "-268" "-82" "-268" "c.-350C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001049" "00001144" "99" "56" "0" "56" "0" "c.56G>C" "1/10" "p.(Arg19Pro)" "r.(?)" "possibly_damaging(0.818)" "" "missense_variant" "" "" "tolerated(0.14)" "0000001049" "00001145" "99" "56" "0" "56" "0" "c.56G>C" "1/10" "p.(Arg19Pro)" "r.(?)" "possibly_damaging(0.818)" "" "missense_variant" "" "" "tolerated(0.14)" "0000001049" "00001146" "99" "-82" "-263" "-82" "-263" "c.-345G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001050" "00001144" "99" "59" "0" "59" "0" "c.59T>A" "1/10" "p.(Leu20His)" "r.(?)" "benign(0.092)" "" "missense_variant" "" "" "tolerated(0.19)" "0000001050" "00001145" "99" "59" "0" "59" "0" "c.59T>A" "1/10" "p.(Leu20His)" "r.(?)" "benign(0.092)" "" "missense_variant" "" "" "tolerated(0.19)" "0000001050" "00001146" "99" "-82" "-260" "-82" "-260" "c.-342T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001051" "00001144" "77" "64" "0" "66" "0" "c.64_66del" "" "p.(Phe23del)" "r.(?)" "" "" "" "" "" "-" "0000001051" "00001145" "77" "64" "0" "66" "0" "c.64_66del" "" "p.(Phe23del)" "r.(?)" "" "" "" "" "" "-" "0000001051" "00001146" "77" "-82" "-255" "-82" "-253" "c.-337_-335del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001052" "00001144" "55" "67" "0" "69" "0" "c.67_69del" "" "p.(Phe23del)" "r.(?)" "" "" "" "" "" "-" "0000001052" "00001145" "55" "67" "0" "69" "0" "c.67_69del" "" "p.(Phe23del)" "r.(?)" "" "" "" "" "" "-" "0000001052" "00001146" "55" "-82" "-252" "-82" "-250" "c.-334_-332del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001053" "00001144" "99" "83" "0" "83" "0" "c.83G>T" "1/10" "p.(Ser28Ile)" "r.(?)" "benign(0.254)" "" "missense_variant" "" "" "tolerated(0.06)" "0000001053" "00001145" "99" "83" "0" "83" "0" "c.83G>T" "1/10" "p.(Ser28Ile)" "r.(?)" "benign(0.254)" "" "missense_variant" "" "" "tolerated(0.06)" "0000001053" "00001146" "99" "-82" "-236" "-82" "-236" "c.-318G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001054" "00001144" "99" "95" "0" "95" "0" "c.95A>G" "1/10" "p.(Asn32Ser)" "r.(?)" "benign(0.041)" "" "missense_variant" "" "" "tolerated(0.05)" "0000001054" "00001145" "99" "95" "0" "95" "0" "c.95A>G" "1/10" "p.(Asn32Ser)" "r.(?)" "benign(0.041)" "" "missense_variant" "" "" "tolerated(0.05)" "0000001054" "00001146" "99" "-82" "-224" "-82" "-224" "c.-306A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001055" "00001144" "99" "136" "0" "136" "0" "c.136C>G" "1/10" "p.(Pro46Ala)" "r.(?)" "probably_damaging(0.992)" "" "missense_variant" "" "" "deleterious(0)" "0000001055" "00001145" "99" "136" "0" "136" "0" "c.136C>G" "1/10" "p.(Pro46Ala)" "r.(?)" "probably_damaging(0.992)" "" "missense_variant" "" "" "deleterious(0)" "0000001055" "00001146" "99" "-82" "-183" "-82" "-183" "c.-265C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001057" "00001144" "99" "136" "0" "136" "0" "c.136C>T" "1/10" "p.(Pro46Ser)" "r.(?)" "probably_damaging(0.992)" "" "missense_variant" "" "" "deleterious(0)" "0000001057" "00001145" "99" "136" "0" "136" "0" "c.136C>T" "1/10" "p.(Pro46Ser)" "r.(?)" "probably_damaging(0.992)" "" "missense_variant" "" "" "deleterious(0)" "0000001057" "00001146" "99" "-82" "-183" "-82" "-183" "c.-265C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001058" "00001144" "99" "137" "0" "137" "0" "c.137C>T" "1/10" "p.(Pro46Leu)" "r.(?)" "possibly_damaging(0.812)" "" "missense_variant" "" "" "deleterious(0)" "0000001058" "00001145" "99" "137" "0" "137" "0" "c.137C>T" "1/10" "p.(Pro46Leu)" "r.(?)" "possibly_damaging(0.812)" "" "missense_variant" "" "" "deleterious(0)" "0000001058" "00001146" "99" "-82" "-182" "-82" "-182" "c.-264C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001059" "00001144" "99" "148" "0" "148" "0" "c.148del" "" "p.(Cys50Alafs*9)" "r.(?)" "" "" "" "" "" "-" "0000001059" "00001145" "99" "148" "0" "148" "0" "c.148del" "" "p.(Cys50Alafs*9)" "r.(?)" "" "" "" "" "" "-" "0000001059" "00001146" "99" "-82" "-171" "-82" "-171" "c.-253del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001060" "00001144" "11" "207" "0" "207" "0" "c.207G>C" "1/10" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000001060" "00001145" "11" "207" "0" "207" "0" "c.207G>C" "1/10" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000001060" "00001146" "11" "-82" "-112" "-82" "-112" "c.-194G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001061" "00001144" "99" "232" "0" "232" "0" "c.232del" "" "p.(His79Thrfs*51)" "r.(?)" "" "" "" "" "" "-" "0000001061" "00001145" "99" "232" "0" "232" "0" "c.232del" "" "p.(His79Thrfs*51)" "r.(?)" "" "" "" "" "" "-" "0000001061" "00001146" "99" "-82" "-87" "-82" "-87" "c.-169del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001062" "00001144" "11" "246" "0" "246" "0" "c.246C>T" "1/10" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000001062" "00001145" "11" "246" "0" "246" "0" "c.246C>T" "1/10" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000001062" "00001146" "11" "-82" "-73" "-82" "-73" "c.-155C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001063" "00001144" "99" "248" "0" "248" "0" "c.248G>T" "1/10" "p.(Arg83Leu)" "r.(?)" "possibly_damaging(0.708)" "" "missense_variant" "" "" "deleterious(0)" "0000001063" "00001145" "99" "248" "0" "248" "0" "c.248G>T" "1/10" "p.(Arg83Leu)" "r.(?)" "possibly_damaging(0.708)" "" "missense_variant" "" "" "deleterious(0)" "0000001063" "00001146" "99" "-82" "-71" "-82" "-71" "c.-153G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001064" "00001145" "55" "253" "0" "254" "0" "c.253_254insGGCTCGCCACC" "1/10" "p.(Ile89Glyfs*45)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000001065" "00001144" "55" "264" "0" "265" "0" "c.264_265insGGCTCGCCACC" "" "p.(Ile89Glyfs*45)" "r.(?)" "" "" "" "" "" "-" "0000001065" "00001145" "55" "264" "0" "265" "0" "c.264_265insGGCTCGCCACC" "" "p.(Ile89Glyfs*45)" "r.(?)" "" "" "" "" "" "-" "0000001065" "00001146" "55" "-82" "-55" "-82" "-54" "c.-137_-136insGGCTCGCCACC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001066" "00001145" "99" "265" "0" "266" "0" "c.265_266insGGCTCGCCACC" "1/10" "p.(Ile89Argfs*45)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000001067" "00001144" "99" "278" "0" "278" "0" "c.278C>G" "1/10" "p.(Ser93Trp)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001067" "00001145" "99" "278" "0" "278" "0" "c.278C>G" "1/10" "p.(Ser93Trp)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001067" "00001146" "99" "-82" "-41" "-82" "-41" "c.-123C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001068" "00001144" "99" "283" "0" "283" "0" "c.283C>G" "1/10" "p.(Leu95Val)" "r.(?)" "benign(0.41)" "" "missense_variant" "" "" "tolerated(0.34)" "0000001068" "00001145" "99" "283" "0" "283" "0" "c.283C>G" "1/10" "p.(Leu95Val)" "r.(?)" "benign(0.41)" "" "missense_variant" "" "" "tolerated(0.34)" "0000001068" "00001146" "99" "-82" "-36" "-82" "-36" "c.-118C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001069" "00001144" "99" "287" "0" "287" "0" "c.287G>C" "1/10" "p.(Gly96Ala)" "r.(?)" "probably_damaging(0.984)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001069" "00001145" "99" "287" "0" "287" "0" "c.287G>C" "1/10" "p.(Gly96Ala)" "r.(?)" "probably_damaging(0.984)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001069" "00001146" "99" "-82" "-32" "-82" "-32" "c.-114G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001070" "00001144" "99" "344" "0" "344" "0" "c.344A>G" "1/10" "p.(Asp115Gly)" "r.(?)" "possibly_damaging(0.794)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001070" "00001145" "99" "344" "0" "344" "0" "c.344A>G" "1/10" "p.(Asp115Gly)" "r.(?)" "possibly_damaging(0.794)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001070" "00001146" "99" "-57" "0" "-57" "0" "c.-57A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001071" "00001144" "99" "364" "0" "364" "0" "c.364G>T" "1/10" "p.(Asp122Tyr)" "r.(?)" "probably_damaging(0.967)" "" "missense_variant" "" "" "deleterious(0)" "0000001071" "00001145" "99" "364" "0" "364" "0" "c.364G>T" "1/10" "p.(Asp122Tyr)" "r.(?)" "probably_damaging(0.967)" "" "missense_variant" "" "" "deleterious(0)" "0000001071" "00001146" "99" "-37" "0" "-37" "0" "c.-37G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001072" "00001144" "99" "393" "17" "393" "17" "c.393+17G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001072" "00001145" "99" "393" "17" "393" "17" "c.393+17G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001072" "00001146" "99" "-8" "17" "-8" "17" "c.-8+17G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001073" "00001144" "99" "468" "0" "468" "0" "c.468G>A" "3/11" "p.(Trp156*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000001073" "00001145" "99" "396" "0" "396" "0" "c.396G>A" "2/10" "p.(Trp132*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000001073" "00001146" "99" "126" "0" "126" "0" "c.126G>A" "3/11" "p.(Trp42*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000001074" "00001144" "11" "486" "0" "486" "0" "c.486C>T" "3/11" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000001074" "00001145" "11" "414" "0" "414" "0" "c.414C>T" "2/10" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000001074" "00001146" "11" "144" "0" "144" "0" "c.144C>T" "3/11" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000001075" "00001144" "99" "496" "0" "496" "0" "c.496G>T" "3/11" "p.(Ala166Ser)" "r.(?)" "benign(0.307)" "" "missense_variant" "" "" "tolerated(0.74)" "0000001075" "00001145" "99" "424" "0" "424" "0" "c.424G>T" "2/10" "p.(Ala142Ser)" "r.(?)" "benign(0.039)" "" "missense_variant" "" "" "tolerated(0.73)" "0000001075" "00001146" "99" "154" "0" "154" "0" "c.154G>T" "3/11" "p.(Ala52Ser)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001076" "00001144" "99" "502" "0" "502" "0" "c.502C>T" "3/11" "p.(Leu168Phe)" "r.(?)" "benign(0.058)" "" "missense_variant" "" "" "tolerated(0.46)" "0000001076" "00001145" "99" "430" "0" "430" "0" "c.430C>T" "2/10" "p.(Leu144Phe)" "r.(?)" "benign(0.232)" "" "missense_variant" "" "" "tolerated(0.4)" "0000001076" "00001146" "99" "160" "0" "160" "0" "c.160C>T" "3/11" "p.(Leu54Phe)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001077" "00001144" "99" "523" "0" "523" "0" "c.523G>A" "3/11" "p.(Val175Met)" "r.(?)" "benign(0.224)" "" "missense_variant" "" "" "tolerated(0.15)" "0000001077" "00001145" "99" "451" "0" "451" "0" "c.451G>A" "2/10" "p.(Val151Met)" "r.(?)" "benign(0.311)" "" "missense_variant" "" "" "tolerated(0.15)" "0000001077" "00001146" "99" "181" "0" "181" "0" "c.181G>A" "3/11" "p.(Val61Met)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001078" "00001144" "99" "525" "0" "525" "0" "c.525G>A" "3/11" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000001078" "00001145" "99" "453" "0" "453" "0" "c.453G>A" "2/10" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000001078" "00001146" "99" "183" "0" "183" "0" "c.183G>A" "3/11" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000001079" "00001144" "77" "528" "0" "529" "0" "c.528_529del" "" "p.(Val177Alafs*41)" "r.(?)" "" "" "" "" "" "-" "0000001079" "00001145" "77" "456" "0" "457" "0" "c.456_457del" "" "p.(Val153Alafs*41)" "r.(?)" "" "" "" "" "" "-" "0000001079" "00001146" "77" "186" "0" "187" "0" "c.186_187del" "" "p.(Val63Alafs*41)" "r.(?)" "" "" "" "" "" "-" "0000001080" "00001144" "55" "530" "0" "531" "0" "c.530_531del" "" "p.(Val177Alafs*41)" "r.(?)" "" "" "" "" "" "-" "0000001080" "00001145" "55" "458" "0" "459" "0" "c.458_459del" "" "p.(Val153Alafs*41)" "r.(?)" "" "" "" "" "" "-" "0000001080" "00001146" "55" "188" "0" "189" "0" "c.188_189del" "" "p.(Val63Alafs*41)" "r.(?)" "" "" "" "" "" "-" "0000001081" "00001144" "99" "577" "0" "577" "0" "c.577C>T" "4/11" "p.(Arg193Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001081" "00001145" "99" "505" "0" "505" "0" "c.505C>T" "3/10" "p.(Arg169Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001081" "00001146" "99" "235" "0" "235" "0" "c.235C>T" "4/11" "p.(Arg79Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001082" "00001144" "99" "578" "0" "578" "0" "c.578G>A" "4/11" "p.(Arg193Gln)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001082" "00001145" "99" "506" "0" "506" "0" "c.506G>A" "3/10" "p.(Arg169Gln)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001082" "00001146" "99" "236" "0" "236" "0" "c.236G>A" "4/11" "p.(Arg79Gln)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001083" "00001144" "99" "607" "0" "607" "0" "c.607A>T" "4/11" "p.(Met203Leu)" "r.(?)" "benign(0.032)" "" "missense_variant" "" "" "tolerated(0.47)" "0000001083" "00001145" "99" "535" "0" "535" "0" "c.535A>T" "3/10" "p.(Met179Leu)" "r.(?)" "benign(0)" "" "missense_variant" "" "" "tolerated(0.42)" "0000001083" "00001146" "99" "265" "0" "265" "0" "c.265A>T" "4/11" "p.(Met89Leu)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001084" "00001144" "99" "629" "0" "629" "0" "c.629T>C" "4/11" "p.(Leu210Pro)" "r.(?)" "probably_damaging(0.975)" "" "missense_variant" "" "" "deleterious(0.02)" "0000001084" "00001145" "99" "557" "0" "557" "0" "c.557T>C" "3/10" "p.(Leu186Pro)" "r.(?)" "possibly_damaging(0.853)" "" "missense_variant" "" "" "deleterious(0.02)" "0000001084" "00001146" "99" "287" "0" "287" "0" "c.287T>C" "4/11" "p.(Leu96Pro)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001085" "00001144" "99" "701" "0" "701" "0" "c.701A>G" "4/11" "p.(Asn234Ser)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "tolerated(0.4)" "0000001085" "00001145" "99" "629" "0" "629" "0" "c.629A>G" "3/10" "p.(Asn210Ser)" "r.(?)" "benign(0.241)" "" "missense_variant" "" "" "tolerated(0.31)" "0000001085" "00001146" "99" "359" "0" "359" "0" "c.359A>G" "4/11" "p.(Asn120Ser)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001086" "00001144" "99" "704" "0" "704" "0" "c.704A>G" "4/11" "p.(Tyr235Cys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001086" "00001145" "99" "632" "0" "632" "0" "c.632A>G" "3/10" "p.(Tyr211Cys)" "r.(?)" "probably_damaging(0.965)" "" "missense_variant" "" "" "deleterious(0)" "0000001086" "00001146" "99" "362" "0" "362" "0" "c.362A>G" "4/11" "p.(Tyr121Cys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001087" "00001144" "99" "713" "0" "713" "0" "c.713C>T" "4/11" "p.(Ala238Val)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0.04)" "0000001087" "00001145" "99" "641" "0" "641" "0" "c.641C>T" "3/10" "p.(Ala214Val)" "r.(?)" "possibly_damaging(0.838)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001087" "00001146" "99" "371" "0" "371" "0" "c.371C>T" "4/11" "p.(Ala124Val)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001088" "00001144" "99" "724" "1" "724" "1" "c.724+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000001088" "00001145" "99" "652" "1" "652" "1" "c.652+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000001088" "00001146" "99" "382" "1" "382" "1" "c.382+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000001089" "00001144" "00" "724" "1" "724" "1" "c.724+1G>T" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000001089" "00001145" "00" "652" "1" "652" "1" "c.652+1G>T" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000001089" "00001146" "00" "382" "1" "382" "1" "c.382+1G>T" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000001090" "00001144" "11" "724" "6" "724" "6" "c.724+6A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001090" "00001145" "11" "652" "6" "652" "6" "c.652+6A>G" "" "" "" "" "" "" "" "" "-" "0000001090" "00001146" "11" "382" "6" "382" "6" "c.382+6A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001091" "00001144" "11" "724" "77" "724" "77" "c.724+77A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001091" "00001145" "11" "652" "77" "652" "77" "c.652+77A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001091" "00001146" "11" "382" "77" "382" "77" "c.382+77A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001092" "00001144" "99" "725" "-2" "725" "-2" "c.725-2A>C" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000001092" "00001145" "99" "653" "-2" "653" "-2" "c.653-2A>C" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000001092" "00001146" "99" "383" "-2" "383" "-2" "c.383-2A>C" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000001093" "00001144" "99" "725" "0" "896" "0" "c.725_896del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000001093" "00001145" "99" "653" "0" "824" "0" "c.653_824del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000001093" "00001146" "99" "383" "0" "554" "0" "c.383_554del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000001094" "00001144" "99" "746" "0" "746" "0" "c.746C>T" "5/11" "p.(Ser249Leu)" "r.(?)" "possibly_damaging(0.486)" "" "missense_variant" "" "" "deleterious(0.04)" "0000001094" "00001145" "99" "674" "0" "674" "0" "c.674C>T" "4/10" "p.(Ser225Leu)" "r.(?)" "possibly_damaging(0.598)" "" "missense_variant" "" "" "tolerated(0.08)" "0000001094" "00001146" "99" "404" "0" "404" "0" "c.404C>T" "5/11" "p.(Ser135Leu)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001095" "00001144" "99" "764" "0" "764" "0" "c.764C>T" "5/11" "p.(Ser255Phe)" "r.(?)" "possibly_damaging(0.819)" "" "missense_variant" "" "" "deleterious(0)" "0000001095" "00001145" "99" "692" "0" "692" "0" "c.692C>T" "4/10" "p.(Ser231Phe)" "r.(?)" "possibly_damaging(0.89)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001095" "00001146" "99" "422" "0" "422" "0" "c.422C>T" "5/11" "p.(Ser141Phe)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001096" "00001144" "99" "767" "0" "767" "0" "c.767C>T" "5/11" "p.(Thr256Met)" "r.(?)" "probably_damaging(0.974)" "" "missense_variant" "" "" "deleterious(0.04)" "0000001096" "00001145" "99" "695" "0" "695" "0" "c.695C>T" "4/10" "p.(Thr232Met)" "r.(?)" "benign(0.227)" "" "missense_variant" "" "" "deleterious(0)" "0000001096" "00001146" "99" "425" "0" "425" "0" "c.425C>T" "5/11" "p.(Thr142Met)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001097" "00001144" "99" "797" "0" "797" "0" "c.797G>T" "5/11" "p.(Gly266Val)" "r.(?)" "possibly_damaging(0.606)" "" "missense_variant" "" "" "deleterious(0)" "0000001097" "00001145" "99" "725" "0" "725" "0" "c.725G>T" "4/10" "p.(Gly242Val)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000001097" "00001146" "99" "455" "0" "455" "0" "c.455G>T" "5/11" "p.(Gly152Val)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001098" "00001144" "99" "832" "0" "832" "0" "c.832C>T" "5/11" "p.(Arg278*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001098" "00001145" "99" "760" "0" "760" "0" "c.760C>T" "4/10" "p.(Arg254*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001098" "00001146" "99" "490" "0" "490" "0" "c.490C>T" "5/11" "p.(Arg164*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001099" "00001144" "99" "833" "0" "833" "0" "c.833G>A" "5/11" "p.(Arg278Gln)" "r.(?)" "probably_damaging(0.944)" "" "missense_variant" "" "" "deleterious(0)" "0000001099" "00001145" "99" "761" "0" "761" "0" "c.761G>A" "4/10" "p.(Arg254Gln)" "r.(?)" "possibly_damaging(0.875)" "" "missense_variant" "" "" "deleterious(0)" "0000001099" "00001146" "99" "491" "0" "491" "0" "c.491G>A" "5/11" "p.(Arg164Gln)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001100" "00001144" "99" "840" "0" "840" "0" "c.840G>A" "5/11" "p.(Trp280*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001100" "00001145" "99" "768" "0" "768" "0" "c.768G>A" "4/10" "p.(Trp256*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001100" "00001146" "99" "498" "0" "498" "0" "c.498G>A" "5/11" "p.(Trp166*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001101" "00001144" "99" "841" "0" "841" "0" "c.841C>T" "5/11" "p.(Arg281Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001101" "00001145" "99" "769" "0" "769" "0" "c.769C>T" "4/10" "p.(Arg257Trp)" "r.(?)" "possibly_damaging(0.477)" "" "missense_variant" "" "" "deleterious(0)" "0000001101" "00001146" "99" "499" "0" "499" "0" "c.499C>T" "5/11" "p.(Arg167Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001102" "00001144" "99" "878" "0" "878" "0" "c.878del" "" "p.(Leu293Hisfs*27)" "r.(?)" "" "" "" "" "" "-" "0000001102" "00001145" "99" "806" "0" "806" "0" "c.806del" "" "p.(Leu269Hisfs*27)" "r.(?)" "" "" "" "" "" "-" "0000001102" "00001146" "99" "536" "0" "536" "0" "c.536del" "" "p.(Leu179Hisfs*27)" "r.(?)" "" "" "" "" "" "-" "0000001103" "00001144" "11" "879" "0" "879" "0" "c.879A>G" "5/11" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000001103" "00001145" "11" "807" "0" "807" "0" "c.807A>G" "4/10" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000001103" "00001146" "11" "537" "0" "537" "0" "c.537A>G" "5/11" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000001104" "00001144" "11" "896" "13" "896" "13" "c.896+13T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001104" "00001145" "11" "824" "13" "824" "13" "c.824+13T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001104" "00001146" "11" "554" "13" "554" "13" "c.554+13T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001105" "00001144" "99" "897" "0" "897" "0" "c.897G>A" "6/11" "p.(Trp299*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000001105" "00001145" "99" "825" "0" "825" "0" "c.825G>A" "5/10" "p.(Trp275*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000001105" "00001146" "99" "555" "0" "555" "0" "c.555G>A" "6/11" "p.(Trp185*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000001106" "00001144" "99" "911" "0" "911" "0" "c.911del" "" "p.(Arg306Aspfs*14)" "r.(?)" "" "" "" "" "" "-" "0000001106" "00001145" "99" "839" "0" "839" "0" "c.839del" "" "p.(Arg282Aspfs*14)" "r.(?)" "" "" "" "" "" "-" "0000001106" "00001146" "99" "569" "0" "569" "0" "c.569del" "" "p.(Arg192Aspfs*14)" "r.(?)" "" "" "" "" "" "-" "0000001107" "00001144" "99" "911" "0" "911" "0" "c.911C>T" "6/11" "p.(Ser304Phe)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001107" "00001145" "99" "839" "0" "839" "0" "c.839C>T" "5/10" "p.(Ser280Phe)" "r.(?)" "probably_damaging(0.994)" "" "missense_variant" "" "" "deleterious(0)" "0000001107" "00001146" "99" "569" "0" "569" "0" "c.569C>T" "6/11" "p.(Ser190Phe)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001108" "00001144" "99" "916" "0" "916" "0" "c.916C>T" "6/11" "p.(Arg306*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001108" "00001145" "99" "844" "0" "844" "0" "c.844C>T" "5/10" "p.(Arg282*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001108" "00001146" "99" "574" "0" "574" "0" "c.574C>T" "6/11" "p.(Arg192*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001109" "00001144" "99" "917" "0" "917" "0" "c.917G>A" "6/11" "p.(Arg306Gln)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0.02)" "0000001109" "00001145" "99" "845" "0" "845" "0" "c.845G>A" "5/10" "p.(Arg282Gln)" "r.(?)" "probably_damaging(0.957)" "" "missense_variant" "" "" "deleterious(0.03)" "0000001109" "00001146" "99" "575" "0" "575" "0" "c.575G>A" "6/11" "p.(Arg192Gln)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001110" "00001144" "99" "919" "0" "919" "0" "c.919T>A" "6/11" "p.(Trp307Arg)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001110" "00001145" "99" "847" "0" "847" "0" "c.847T>A" "5/10" "p.(Trp283Arg)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001110" "00001146" "99" "577" "0" "577" "0" "c.577T>A" "6/11" "p.(Trp193Arg)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001112" "00001144" "99" "919" "0" "919" "0" "c.919T>C" "6/11" "p.(Trp307Arg)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001112" "00001145" "99" "847" "0" "847" "0" "c.847T>C" "5/10" "p.(Trp283Arg)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001112" "00001146" "99" "577" "0" "577" "0" "c.577T>C" "6/11" "p.(Trp193Arg)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001114" "00001144" "99" "921" "0" "921" "0" "c.921G>T" "6/11" "p.(Trp307Cys)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001114" "00001145" "99" "849" "0" "849" "0" "c.849G>T" "5/10" "p.(Trp283Cys)" "r.(?)" "probably_damaging(0.96)" "" "missense_variant" "" "" "deleterious(0)" "0000001114" "00001146" "99" "579" "0" "579" "0" "c.579G>T" "6/11" "p.(Trp193Cys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001115" "00001144" "99" "937" "0" "937" "0" "c.937C>T" "6/11" "p.(Arg313*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001115" "00001145" "99" "865" "0" "865" "0" "c.865C>T" "5/10" "p.(Arg289*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001115" "00001146" "99" "595" "0" "595" "0" "c.595C>T" "6/11" "p.(Arg199*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001116" "00001144" "99" "974" "0" "974" "0" "c.974C>A" "6/11" "p.(Ala325Asp)" "r.(?)" "probably_damaging(0.987)" "" "missense_variant" "" "" "deleterious(0)" "0000001116" "00001145" "99" "902" "0" "902" "0" "c.902C>A" "5/10" "p.(Ala301Asp)" "r.(?)" "probably_damaging(0.99)" "" "missense_variant" "" "" "deleterious(0)" "0000001116" "00001146" "99" "632" "0" "632" "0" "c.632C>A" "6/11" "p.(Ala211Asp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001117" "00001144" "77" "1080" "0" "1080" "0" "c.1080del" "" "p.(Thr361Profs*12)" "r.(?)" "" "" "" "" "" "-" "0000001117" "00001145" "77" "1008" "0" "1008" "0" "c.1008del" "" "p.(Thr337Profs*12)" "r.(?)" "" "" "" "" "" "-" "0000001117" "00001146" "77" "738" "0" "738" "0" "c.738del" "" "p.(Thr247Profs*12)" "r.(?)" "" "" "" "" "" "-" "0000001118" "00001144" "55" "1081" "0" "1081" "0" "c.1081del" "" "p.(Thr361Profs*12)" "r.(?)" "" "" "" "" "" "-" "0000001118" "00001145" "55" "1009" "0" "1009" "0" "c.1009del" "" "p.(Thr337Profs*12)" "r.(?)" "" "" "" "" "" "-" "0000001118" "00001146" "55" "739" "0" "739" "0" "c.739del" "" "p.(Thr247Profs*12)" "r.(?)" "" "" "" "" "" "-" "0000001119" "00001144" "99" "1115" "0" "1115" "0" "c.1115T>A" "7/11" "p.(Ile372Lys)" "r.(?)" "probably_damaging(0.951)" "" "missense_variant" "" "" "tolerated(0.31)" "0000001119" "00001145" "99" "1043" "0" "1043" "0" "c.1043T>A" "6/10" "p.(Ile348Lys)" "r.(?)" "benign(0.251)" "" "missense_variant" "" "" "tolerated(0.21)" "0000001119" "00001146" "99" "773" "0" "773" "0" "c.773T>A" "7/11" "p.(Ile258Lys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001120" "00001144" "99" "1115" "0" "1115" "0" "c.1115T>C" "7/11" "p.(Ile372Thr)" "r.(?)" "possibly_damaging(0.744)" "" "missense_variant" "" "" "tolerated(0.43)" "0000001120" "00001145" "99" "1043" "0" "1043" "0" "c.1043T>C" "6/10" "p.(Ile348Thr)" "r.(?)" "benign(0.065)" "" "missense_variant" "" "" "tolerated(0.3)" "0000001120" "00001146" "99" "773" "0" "773" "0" "c.773T>C" "7/11" "p.(Ile258Thr)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001122" "00001144" "99" "1123" "0" "1123" "0" "c.1123T>C" "7/11" "p.(Trp375Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0.01)" "0000001122" "00001145" "99" "1051" "0" "1051" "0" "c.1051T>C" "6/10" "p.(Trp351Arg)" "r.(?)" "probably_damaging(0.974)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000001122" "00001146" "99" "781" "0" "781" "0" "c.781T>C" "7/11" "p.(Trp261Arg)" "r.(?)" "-" "" "missense_variant,splice_region_variant" "" "" "-" "0000001123" "00001144" "99" "1160" "0" "1160" "0" "c.1160T>C" "8/11" "p.(Leu387Pro)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001123" "00001145" "99" "1088" "0" "1088" "0" "c.1088T>C" "7/10" "p.(Leu363Pro)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001123" "00001146" "99" "818" "0" "818" "0" "c.818T>C" "8/11" "p.(Leu273Pro)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001124" "00001144" "99" "1233" "0" "1233" "0" "c.1233T>G" "8/11" "p.(Tyr411*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001124" "00001145" "99" "1161" "0" "1161" "0" "c.1161T>G" "7/10" "p.(Tyr387*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001124" "00001146" "99" "891" "0" "891" "0" "c.891T>G" "8/11" "p.(Tyr297*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001125" "00001144" "77" "1247" "0" "1249" "0" "c.1247_1249del" "" "p.(Leu418del)" "r.(?)" "" "" "" "" "" "-" "0000001125" "00001145" "77" "1175" "0" "1177" "0" "c.1175_1177del" "" "p.(Leu394del)" "r.(?)" "" "" "" "" "" "-" "0000001125" "00001146" "77" "905" "0" "907" "0" "c.905_907del" "" "p.(Leu304del)" "r.(?)" "" "" "" "" "" "-" "0000001126" "00001144" "55" "1253" "0" "1255" "0" "c.1253_1255del" "" "p.(Leu418del)" "r.(?)" "" "" "" "" "" "-" "0000001126" "00001145" "55" "1181" "0" "1183" "0" "c.1181_1183del" "" "p.(Leu394del)" "r.(?)" "" "" "" "" "" "-" "0000001126" "00001146" "55" "911" "0" "913" "0" "c.911_913del" "" "p.(Leu304del)" "r.(?)" "" "" "" "" "" "-" "0000001127" "00001144" "99" "1265" "0" "1265" "0" "c.1265C>T" "8/11" "p.(Pro422Leu)" "r.(?)" "possibly_damaging(0.696)" "" "missense_variant" "" "" "deleterious(0)" "0000001127" "00001145" "99" "1193" "0" "1193" "0" "c.1193C>T" "7/10" "p.(Pro398Leu)" "r.(?)" "possibly_damaging(0.783)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001127" "00001146" "99" "923" "0" "923" "0" "c.923C>T" "8/11" "p.(Pro308Leu)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001128" "00001144" "99" "1267" "0" "1267" "0" "c.1267C>T" "8/11" "p.(Arg423Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001128" "00001145" "99" "1195" "0" "1195" "0" "c.1195C>T" "7/10" "p.(Arg399Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001128" "00001146" "99" "925" "0" "925" "0" "c.925C>T" "8/11" "p.(Arg309Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001129" "00001144" "99" "1268" "0" "1268" "0" "c.1268G>A" "8/11" "p.(Arg423Gln)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001129" "00001145" "99" "1196" "0" "1196" "0" "c.1196G>A" "7/10" "p.(Arg399Gln)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001129" "00001146" "99" "926" "0" "926" "0" "c.926G>A" "8/11" "p.(Arg309Gln)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001130" "00001144" "55" "1273" "0" "1274" "0" "c.1273_1274insA" "8/11" "p.(Tyr425*)" "r.(?)" "-" "" "stop_gained,frameshift_variant" "" "" "-" "0000001130" "00001145" "55" "1201" "0" "1202" "0" "c.1201_1202insA" "7/10" "p.(Tyr401*)" "r.(?)" "-" "" "stop_gained,frameshift_variant" "" "" "-" "0000001130" "00001146" "55" "931" "0" "932" "0" "c.931_932insA" "8/11" "p.(Tyr311*)" "r.(?)" "-" "" "stop_gained,frameshift_variant" "" "" "-" "0000001131" "00001145" "55" "1202" "0" "1202" "0" "c.1202dup" "" "p.(Tyr401*)" "r.(?)" "" "" "" "" "" "-" "0000001132" "00001144" "99" "1339" "3" "1339" "23" "c.1339+3_1339+23del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000001132" "00001145" "99" "1267" "3" "1267" "23" "c.1267+3_1267+23del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000001132" "00001146" "99" "997" "3" "997" "23" "c.997+3_997+23del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000001133" "00001144" "99" "1340" "-34" "1340" "-34" "c.1340-34A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001133" "00001145" "99" "1268" "-34" "1268" "-34" "c.1268-34A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001133" "00001146" "99" "998" "-34" "998" "-34" "c.998-34A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001134" "00001144" "99" "1374" "0" "1374" "0" "c.1374del" "" "p.(Gly459Alafs*24)" "r.(?)" "" "" "" "" "" "-" "0000001134" "00001145" "99" "1302" "0" "1302" "0" "c.1302del" "" "p.(Gly435Alafs*24)" "r.(?)" "" "" "" "" "" "-" "0000001134" "00001146" "99" "1032" "0" "1032" "0" "c.1032del" "" "p.(Gly345Alafs*24)" "r.(?)" "" "" "" "" "" "-" "0000001135" "00001144" "99" "1391" "0" "1391" "0" "c.1391C>T" "9/11" "p.(Thr464Met)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001135" "00001145" "99" "1319" "0" "1319" "0" "c.1319C>T" "8/10" "p.(Thr440Met)" "r.(?)" "probably_damaging(0.994)" "" "missense_variant" "" "" "deleterious(0)" "0000001135" "00001146" "99" "1049" "0" "1049" "0" "c.1049C>T" "9/11" "p.(Thr350Met)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001136" "00001144" "99" "1396" "0" "1397" "0" "c.1396_1397delinsAT" "" "p.(Ala466Ile)" "r.(?)" "" "" "" "" "" "-" "0000001136" "00001145" "99" "1324" "0" "1325" "0" "c.1324_1325delinsAT" "" "p.(Ala442Ile)" "r.(?)" "" "" "" "" "" "-" "0000001136" "00001146" "99" "1054" "0" "1055" "0" "c.1054_1055delinsAT" "" "p.(Ala352Ile)" "r.(?)" "" "" "" "" "" "-" "0000001138" "00001144" "99" "1408" "0" "1408" "0" "c.1408G>T" "9/11" "p.(Val470Phe)" "r.(?)" "possibly_damaging(0.719)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001138" "00001145" "99" "1336" "0" "1336" "0" "c.1336G>T" "8/10" "p.(Val446Phe)" "r.(?)" "benign(0.345)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001138" "00001146" "99" "1066" "0" "1066" "0" "c.1066G>T" "9/11" "p.(Val356Phe)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001139" "00001144" "99" "1412" "0" "1412" "0" "c.1412A>G" "9/11" "p.(Tyr471Cys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0.05)" "0000001139" "00001145" "99" "1340" "0" "1340" "0" "c.1340A>G" "8/10" "p.(Tyr447Cys)" "r.(?)" "probably_damaging(0.937)" "" "missense_variant" "" "" "deleterious(0)" "0000001139" "00001146" "99" "1070" "0" "1070" "0" "c.1070A>G" "9/11" "p.(Tyr357Cys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001140" "00001144" "99" "1414" "0" "1414" "0" "c.1414G>T" "9/11" "p.(Val472Leu)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "tolerated(0.24)" "0000001140" "00001145" "99" "1342" "0" "1342" "0" "c.1342G>T" "8/10" "p.(Val448Leu)" "r.(?)" "possibly_damaging(0.458)" "" "missense_variant" "" "" "tolerated(0.16)" "0000001140" "00001146" "99" "1072" "0" "1072" "0" "c.1072G>T" "9/11" "p.(Val358Leu)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001141" "00001144" "99" "1417" "0" "1417" "0" "c.1417T>G" "9/11" "p.(Tyr473Asp)" "r.(?)" "probably_damaging(0.977)" "" "missense_variant" "" "" "deleterious(0)" "0000001141" "00001145" "99" "1345" "0" "1345" "0" "c.1345T>G" "8/10" "p.(Tyr449Asp)" "r.(?)" "probably_damaging(0.992)" "" "missense_variant" "" "" "deleterious(0)" "0000001141" "00001146" "99" "1075" "0" "1075" "0" "c.1075T>G" "9/11" "p.(Tyr359Asp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001142" "00001144" "99" "1426" "0" "1426" "0" "c.1426G>A" "9/11" "p.(Glu476Lys)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000001142" "00001145" "99" "1354" "0" "1354" "0" "c.1354G>A" "8/10" "p.(Glu452Lys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001142" "00001146" "99" "1084" "0" "1084" "0" "c.1084G>A" "9/11" "p.(Glu362Lys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001143" "00001144" "99" "1464" "0" "1481" "0" "c.1464_1481delinsCA" "" "p.(Val489Thrfs*29)" "r.(?)" "" "" "" "" "" "-" "0000001143" "00001145" "99" "1392" "0" "1409" "0" "c.1392_1409delinsCA" "" "p.(Val465Thrfs*29)" "r.(?)" "" "" "" "" "" "-" "0000001143" "00001146" "99" "1122" "0" "1139" "0" "c.1122_1139delinsCA" "" "p.(Val375Thrfs*29)" "r.(?)" "" "" "" "" "" "-" "0000001144" "00001144" "99" "1472" "0" "1472" "0" "c.1472C>G" "9/11" "p.(Ser491Cys)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001144" "00001145" "99" "1400" "0" "1400" "0" "c.1400C>G" "8/10" "p.(Ser467Cys)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000001144" "00001146" "99" "1130" "0" "1130" "0" "c.1130C>G" "9/11" "p.(Ser377Cys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001145" "00001144" "99" "1475" "0" "1475" "0" "c.1475C>G" "9/11" "p.(Thr492Arg)" "r.(?)" "possibly_damaging(0.832)" "" "missense_variant" "" "" "deleterious(0.04)" "0000001145" "00001145" "99" "1403" "0" "1403" "0" "c.1403C>G" "8/10" "p.(Thr468Arg)" "r.(?)" "possibly_damaging(0.739)" "" "missense_variant" "" "" "deleterious(0.03)" "0000001145" "00001146" "99" "1133" "0" "1133" "0" "c.1133C>G" "9/11" "p.(Thr378Arg)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001146" "00001144" "99" "1481" "0" "1481" "0" "c.1481C>T" "9/11" "p.(Ser494Phe)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001146" "00001145" "99" "1409" "0" "1409" "0" "c.1409C>T" "8/10" "p.(Ser470Phe)" "r.(?)" "probably_damaging(0.996)" "" "missense_variant" "" "" "deleterious(0)" "0000001146" "00001146" "99" "1139" "0" "1139" "0" "c.1139C>T" "9/11" "p.(Ser380Phe)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001147" "00001144" "99" "1484" "0" "1484" "0" "c.1484G>A" "9/11" "p.(Arg495His)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001147" "00001145" "99" "1412" "0" "1412" "0" "c.1412G>A" "8/10" "p.(Arg471His)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001147" "00001146" "99" "1142" "0" "1142" "0" "c.1142G>A" "9/11" "p.(Arg381His)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001148" "00001144" "99" "1505" "0" "1505" "0" "c.1505C>T" "9/11" "p.(Pro502Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001148" "00001145" "99" "1433" "0" "1433" "0" "c.1433C>T" "8/10" "p.(Pro478Leu)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001148" "00001146" "99" "1163" "0" "1163" "0" "c.1163C>T" "9/11" "p.(Pro388Leu)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001149" "00001144" "99" "1513" "0" "1513" "0" "c.1513G>A" "9/11" "p.(Val505Ile)" "r.(?)" "benign(0.013)" "" "missense_variant" "" "" "tolerated(0.96)" "0000001149" "00001145" "99" "1441" "0" "1441" "0" "c.1441G>A" "8/10" "p.(Val481Ile)" "r.(?)" "benign(0.008)" "" "missense_variant" "" "" "tolerated(0.96)" "0000001149" "00001146" "99" "1171" "0" "1171" "0" "c.1171G>A" "9/11" "p.(Val391Ile)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001150" "00001144" "99" "1513" "0" "1513" "0" "c.1513G>T" "9/11" "p.(Val505Phe)" "r.(?)" "possibly_damaging(0.722)" "" "missense_variant" "" "" "tolerated(0.27)" "0000001150" "00001145" "99" "1441" "0" "1441" "0" "c.1441G>T" "8/10" "p.(Val481Phe)" "r.(?)" "possibly_damaging(0.619)" "" "missense_variant" "" "" "tolerated(0.3)" "0000001150" "00001146" "99" "1171" "0" "1171" "0" "c.1171G>T" "9/11" "p.(Val391Phe)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001151" "00001144" "99" "1523" "-1" "1523" "-1" "c.1523-1G>A" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000001151" "00001145" "99" "1451" "-1" "1451" "-1" "c.1451-1G>A" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000001151" "00001146" "99" "1181" "-1" "1181" "-1" "c.1181-1G>A" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000001152" "00001144" "99" "1535" "0" "1535" "0" "c.1535G>A" "10/11" "p.(Arg512His)" "r.(?)" "probably_damaging(0.956)" "" "missense_variant" "" "" "deleterious(0.02)" "0000001152" "00001145" "99" "1463" "0" "1463" "0" "c.1463G>A" "9/10" "p.(Arg488His)" "r.(?)" "possibly_damaging(0.86)" "" "missense_variant" "" "" "deleterious(0.02)" "0000001152" "00001146" "99" "1193" "0" "1193" "0" "c.1193G>A" "10/11" "p.(Arg398His)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001153" "00001145" "55" "1555" "0" "1556" "0" "c.1555_1556insACAC" "9/10" "p.(Ile521Hisfs*3)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000001154" "00001144" "55" "1631" "0" "1632" "0" "c.1631_1632insACAC" "" "p.(Ile545Hisfs*3)" "r.(?)" "" "" "" "" "" "-" "0000001154" "00001145" "55" "1559" "0" "1560" "0" "c.1559_1560insACAC" "" "p.(Ile521Hisfs*3)" "r.(?)" "" "" "" "" "" "-" "0000001154" "00001146" "55" "1289" "0" "1290" "0" "c.1289_1290insACAC" "" "p.(Ile431Hisfs*3)" "r.(?)" "" "" "" "" "" "-" "0000001155" "00001144" "99" "1658" "1" "1658" "1" "c.1658+1G>T" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000001155" "00001145" "99" "1586" "1" "1586" "1" "c.1586+1G>T" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000001155" "00001146" "99" "1316" "1" "1316" "1" "c.1316+1G>T" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000001156" "00001144" "11" "1659" "-38" "1659" "-38" "c.1659-38A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001156" "00001145" "11" "1587" "-38" "1587" "-38" "c.1587-38A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001156" "00001146" "11" "1317" "-38" "1317" "-38" "c.1317-38A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001157" "00001144" "11" "1717" "0" "1717" "0" "c.1717C>T" "11/11" "p.(Pro573Ser)" "r.(?)" "benign(0.006)" "" "missense_variant" "" "" "deleterious(0.04)" "0000001157" "00001145" "11" "1645" "0" "1645" "0" "c.1645C>T" "10/10" "p.(Pro549Ser)" "r.(?)" "benign(0.002)" "" "missense_variant" "" "" "tolerated(0.05)" "0000001157" "00001146" "11" "1375" "0" "1375" "0" "c.1375C>T" "11/11" "p.(Pro459Ser)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001158" "00001144" "77" "1793" "0" "1793" "0" "c.*47C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001158" "00001145" "77" "1721" "0" "1721" "0" "c.*47C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001158" "00001146" "77" "1451" "0" "1451" "0" "c.*47C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003137" "00001144" "99" "-91" "0" "22" "0" "c.-91_22del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000003137" "00001145" "99" "-91" "0" "22" "0" "c.-91_22del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000003137" "00001146" "99" "-82" "-409" "-82" "-297" "c.-491_-379del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003143" "00001144" "00" "4" "0" "5" "0" "c.4_5insCG" "1/10" "p.(Arg2Profs*7)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003143" "00001145" "00" "4" "0" "5" "0" "c.4_5insCG" "1/10" "p.(Arg2Profs*7)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000003143" "00001146" "00" "-82" "-315" "-82" "-314" "c.-397_-396insCG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003192" "00001144" "77" "752" "0" "752" "0" "c.752G>A" "5/11" "p.(Arg251His)" "r.(?)" "probably_damaging(0.983)" "" "missense_variant" "" "" "deleterious(0)" "0000003192" "00001145" "77" "680" "0" "680" "0" "c.680G>A" "4/10" "p.(Arg227His)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000003192" "00001146" "77" "410" "0" "410" "0" "c.410G>A" "5/11" "p.(Arg137His)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000003196" "00001144" "99" "832" "0" "832" "0" "c.832C>A" "5/11" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000003196" "00001145" "99" "760" "0" "760" "0" "c.760C>A" "4/10" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000003196" "00001146" "99" "490" "0" "490" "0" "c.490C>A" "5/11" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000003227" "00001144" "00" "1274" "0" "1275" "0" "c.1274_1275insAT" "8/11" "p.(Tyr425*)" "r.(?)" "-" "" "stop_gained,frameshift_variant" "" "" "-" "0000003227" "00001145" "00" "1202" "0" "1203" "0" "c.1202_1203insAT" "7/10" "p.(Tyr401*)" "r.(?)" "-" "" "stop_gained,frameshift_variant" "" "" "-" "0000003227" "00001146" "00" "932" "0" "933" "0" "c.932_933insAT" "8/11" "p.(Tyr311*)" "r.(?)" "-" "" "stop_gained,frameshift_variant" "" "" "-" "0000005229" "00001144" "00" "1274" "0" "1274" "0" "c.1274dup" "" "p.(Tyr425*)" "r.(?)" 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"" "" "" "" "" "-" "0000021363" "00001146" "00" "-82" "-316" "-82" "-316" "c.-398G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021364" "00001144" "00" "12" "0" "12" "0" "c.12C>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021364" "00001145" "00" "12" "0" "12" "0" "c.12C>G" "" "p.(Tyr4*)" "r.(?)" "" "" "" "" "" "-" "0000021364" "00001146" "00" "-82" "-307" "-82" "-307" "c.-389C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021365" "00001144" "00" "34" "0" "34" "0" "c.34G>A" "" "" "" "" "" "" "" "" "-" "0000021365" "00001145" "00" "34" "0" "34" "0" "c.34G>A" "" "p.(Gly12Ser)" "r.(?)" "" "" "" "" "" "-" "0000021365" "00001146" "00" "-82" "-285" "-82" "-285" "c.-367G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021366" "00001144" "00" "43" "0" "43" "0" "c.43G>T" "" "" "" "" "" "" "" "" "-" "0000021366" "00001145" "00" "43" "0" "43" "0" "c.43G>T" "" "p.(Gly15Trp)" "r.(?)" "" "" "" "" "" "-" "0000021366" "00001146" "00" "-82" "-276" "-82" "-276" "c.-358G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021367" "00001144" "00" "51" "0" "51" "0" "c.51C>G" "" "" "" "" "" "" "" "" "-" "0000021367" "00001145" "00" "51" "0" "51" "0" "c.51C>G" "" "p.(Phe17Leu)" "r.(?)" "" "" "" "" "" "-" "0000021367" "00001146" "00" "-82" "-268" "-82" "-268" "c.-350C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021368" "00001144" "00" "56" "0" "56" "0" "c.56G>C" "" "" "" "" "" "" "" "" "-" "0000021368" "00001145" "00" "56" "0" "56" "0" "c.56G>C" "" "p.(Arg19Pro)" "r.(?)" "" "" "" "" "" "-" "0000021368" "00001146" "00" "-82" "-263" "-82" "-263" "c.-345G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021369" "00001144" "00" "59" "0" "59" "0" "c.59T>A" "" "" "" "" "" "" "" "" "-" "0000021369" "00001145" "00" "59" "0" "59" "0" "c.59T>A" "" "p.(Leu20His)" "r.(?)" "" "" "" "" "" "-" "0000021369" "00001146" "00" "-82" "-260" "-82" "-260" "c.-342T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021370" "00001144" "00" "62" "0" "64" "0" "c.62_64del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021370" "00001145" "00" "62" "0" "64" "0" "c.62_64del" "" "p.(Phe23del)" "r.(?)" "" "" "" "" "" "-" "0000021370" "00001146" "00" "-82" "-257" "-82" "-255" "c.-339_-337del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021371" "00001144" "00" "75" "0" "75" "0" "c.75C>T" "" "" "" "" "" "" "" "" "-" "0000021371" "00001145" "00" "75" "0" "75" "0" "c.75C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021371" "00001146" "00" "-82" "-244" "-82" "-244" "c.-326C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021372" "00001144" "00" "83" "0" "83" "0" "c.83G>T" "" "" "" "" "" "" "" "" "-" "0000021372" "00001145" "00" "83" "0" "83" "0" "c.83G>T" "" "p.(Ser28Ile)" "r.(?)" "" "" "" "" "" "-" "0000021372" "00001146" "00" "-82" "-236" "-82" "-236" "c.-318G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021373" "00001144" "00" "93" "0" "93" "0" "c.93C>T" "" "" "" "" "" "" "" "" "-" "0000021373" "00001145" "00" "93" "0" "93" "0" "c.93C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021373" "00001146" "00" "-82" "-226" "-82" "-226" "c.-308C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021374" "00001144" "00" "95" "0" "95" "0" "c.95A>G" "" "" "" "" "" "" "" "" "-" "0000021374" "00001145" "00" "95" "0" "95" "0" "c.95A>G" "" "p.(Asn32Ser)" "r.(?)" "" "" "" "" "" "-" "0000021374" "00001146" "00" "-82" "-224" "-82" "-224" "c.-306A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021375" "00001144" "00" "133" "0" "133" "0" "c.133A>G" "" "" "" "" "" "" "" "" "-" "0000021375" "00001145" "00" "133" "0" "133" "0" "c.133A>G" "" "p.(Thr45Ala)" "r.(?)" "" "" "" "" "" "-" "0000021375" "00001146" "00" "-82" "-186" "-82" "-186" "c.-268A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021376" "00001144" "00" "136" "0" "136" "0" "c.136C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021376" "00001145" "00" "136" "0" "136" "0" "c.136C>T" "" "p.(Pro46Ser)" "r.(?)" "" "" "" "" "" "-" "0000021376" "00001146" "00" "-82" "-183" "-82" "-183" "c.-265C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021377" "00001144" "00" "136" "0" "136" "0" "c.136C>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021377" "00001145" "00" "136" "0" "136" "0" "c.136C>G" "" "p.(Pro46Ala)" "r.(?)" "" "" "" "" "" "-" "0000021377" "00001146" "00" "-82" "-183" "-82" "-183" "c.-265C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021378" "00001144" "00" "137" "0" "137" "0" "c.137C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021378" "00001145" "00" "137" "0" "137" "0" "c.137C>T" "" "p.(Pro46Leu)" "r.(?)" "" "" "" "" "" "-" "0000021378" "00001146" "00" "-82" "-182" "-82" "-182" "c.-264C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021379" "00001144" "00" "148" "0" "148" "0" "c.148del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021379" "00001145" "00" "148" "0" "148" "0" "c.148del" "" "p.(Cys50Alafs*9)" "r.(?)" "" "" "" "" "" "-" "0000021379" "00001146" "00" "-82" "-171" "-82" "-171" "c.-253del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021380" "00001144" "00" "155" "0" "156" "0" "c.155_156insGCCGGAC" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021380" "00001145" "00" "155" "0" "156" "0" "c.155_156insGCCGGAC" "" "p.(Ala56Glyfs*84)" "r.(?)" "" "" "" "" "" "-" "0000021380" "00001146" "00" "-82" "-164" "-82" "-163" "c.-246_-245insGCCGGAC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021381" "00001144" "00" "207" "0" "207" "0" "c.207G>C" "" "" "" "" "" "" "" "" "-" "0000021381" "00001145" "00" "207" "0" "207" "0" "c.207G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021381" "00001146" "00" "-82" "-112" "-82" "-112" "c.-194G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021382" "00001144" "00" "208" "0" "208" "0" "c.208C>T" "" "" "" "" "" "" "" "" "-" "0000021382" "00001145" "00" "208" "0" "208" "0" "c.208C>T" "" "p.(Arg70Trp)" "r.(?)" "" "" "" "" "" "-" "0000021382" "00001146" "00" "-82" "-111" "-82" "-111" "c.-193C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021383" "00001144" "00" "232" "0" "232" "0" "c.232del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021383" "00001145" "00" "232" "0" "232" "0" "c.232del" "" "p.(His79Thrfs*51)" "r.(?)" "" "" "" "" "" "-" "0000021383" "00001146" "00" "-82" "-87" "-82" "-87" "c.-169del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021384" "00001144" "00" "246" "0" "246" "0" "c.246C>T" "" "" "" "" "" "" "" "" "-" "0000021384" "00001145" "00" "246" "0" "246" "0" "c.246C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021384" "00001146" "00" "-82" "-73" "-82" "-73" "c.-155C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021385" "00001144" "00" "248" "0" "248" "0" "c.248G>T" "" "" "" "" "" "" "" "" "-" "0000021385" "00001145" "00" "248" "0" "248" "0" "c.248G>T" "" "p.(Arg83Leu)" "r.(?)" "" "" "" "" "" "-" "0000021385" "00001146" "00" "-82" "-71" "-82" "-71" "c.-153G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021386" "00001144" "00" "250" "0" "251" "0" "c.250_251insACCGGCTCGCC" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021386" "00001145" "00" "250" "0" "251" "0" "c.250_251insACCGGCTCGCC" "" "p.(Ile89Glyfs*45)" "r.(?)" "" "" "" "" "" "-" "0000021386" "00001146" "00" "-82" "-69" "-82" "-68" "c.-151_-150insACCGGCTCGCC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021387" "00001144" "00" "265" "0" "266" "0" "c.265_266insGGCTCGCCACC" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021387" "00001145" "00" "265" "0" "266" "0" "c.265_266insGGCTCGCCACC" "" "p.(Ile89Argfs*45)" "r.(?)" "" "" "" "" "" "-" "0000021387" "00001146" "00" "-82" "-54" "-82" "-53" "c.-136_-135insGGCTCGCCACC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021388" "00001144" "00" "272" "0" "272" "0" "c.272A>G" "" "" "" "" "" "" "" "" "-" "0000021388" "00001145" "00" "272" "0" "272" "0" "c.272A>G" "" "p.(Asn91Ser)" "r.(?)" "" "" "" "" "" "-" "0000021388" "00001146" "00" "-82" "-47" "-82" "-47" "c.-129A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021389" "00001144" "00" "278" "0" "278" "0" "c.278C>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021389" "00001145" "00" "278" "0" "278" "0" "c.278C>G" "" "p.(Ser93Trp)" "r.(?)" "" "" "" "" "" "-" "0000021389" "00001146" "00" "-82" "-41" "-82" "-41" "c.-123C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021390" "00001144" "00" "279" "0" "279" "0" "c.279G>C" "" "" "" "" "" "" "" "" "-" "0000021390" "00001145" "00" "279" "0" "279" "0" "c.279G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021390" "00001146" "00" "-82" "-40" "-82" "-40" "c.-122G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021391" "00001144" "00" "283" "0" "283" "0" "c.283C>G" "" "" "" "" "" "" "" "" "-" "0000021391" "00001145" "00" "283" "0" "283" "0" "c.283C>G" "" "p.(Leu95Val)" "r.(?)" "" "" "" "" "" "-" "0000021391" "00001146" "00" "-82" "-36" "-82" "-36" "c.-118C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021393" "00001144" "00" "285" "0" "285" "0" "c.285T>C" "" "" "" "" "" "" "" "" "-" "0000021393" "00001145" "00" "285" "0" "285" "0" "c.285T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021393" "00001146" "00" "-82" "-34" "-82" "-34" "c.-116T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021394" "00001144" "00" "287" "0" "287" "0" "c.287G>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021394" "00001145" "00" "287" "0" "287" "0" "c.287G>C" "" "p.(Gly96Ala)" "r.(?)" "" "" "" "" "" "-" "0000021394" "00001146" "00" "-82" "-32" "-82" "-32" "c.-114G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021395" "00001144" "00" "338" "0" "338" "0" "c.338G>A" "" "" "" "" "" "" "" "" "-" "0000021395" "00001145" "00" "338" "0" "338" "0" "c.338G>A" "" "p.(Cys113Tyr)" "r.(?)" "" "" "" "" "" "-" "0000021395" "00001146" "00" "-63" "0" "-63" "0" "c.-63G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021396" "00001144" "00" "344" "0" "344" "0" "c.344A>G" "" "" "" "" "" "" "" "" "-" "0000021396" "00001145" "00" "344" "0" "344" "0" "c.344A>G" "" "p.(Asp115Gly)" "r.(?)" "" "" "" "" "" "-" "0000021396" "00001146" "00" "-57" "0" "-57" "0" "c.-57A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021397" "00001144" "00" "361" "0" "361" "0" "c.361C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021397" "00001145" "00" "361" "0" "361" "0" "c.361C>T" "" "p.(Gln121*)" "r.(?)" "" "" "" "" "" "-" "0000021397" "00001146" "00" "-40" "0" "-40" "0" "c.-40C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021398" "00001144" "00" "364" "0" "364" "0" "c.364G>T" "" "" "" "" "" "" "" "" "-" "0000021398" "00001145" "00" "364" "0" "364" "0" "c.364G>T" "" "p.(Asp122Tyr)" "r.(?)" "" "" "" "" "" "-" "0000021398" "00001146" "00" "-37" "0" "-37" "0" "c.-37G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021399" "00001144" "00" "393" "1" "393" "1" "c.393+1G>A" "" "" "" "" "" "" "" "" "-" "0000021399" "00001145" "00" "393" "1" "393" "1" "c.393+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021399" "00001146" "00" "-8" "1" "-8" "1" "c.-8+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021400" "00001144" "00" "393" "17" "393" "17" "c.393+17G>A" "" "" "" "" "" "" "" "" "-" "0000021400" "00001145" "00" "393" "17" "393" "17" "c.393+17G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021400" "00001146" "00" "-8" "17" "-8" "17" "c.-8+17G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021401" "00001144" "00" "466" "-16" "466" "-16" "c.466-16T>A" "" "" "" "" "" "" "" "" "-" "0000021401" "00001145" "00" "394" "-16" "394" "-16" "c.394-16T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021401" "00001146" "00" "124" "-16" "124" "-16" "c.124-16T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021402" "00001144" "00" "466" "-2" "466" "-2" "c.466-2A>C" "" "" "" "" "" "" "" "" "-" "0000021402" "00001145" "00" "394" "-2" "394" "-2" "c.394-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021402" "00001146" "00" "124" "-2" "124" "-2" "c.124-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021403" "00001144" "00" "466" "-1" "466" "-1" "c.466-1G>T" "" "" "" "" "" "" "" "" "-" "0000021403" "00001145" "00" "394" "-1" "394" "-1" "c.394-1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021403" "00001146" "00" "124" "-1" "124" "-1" "c.124-1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021404" "00001144" "00" "468" "0" "468" "0" "c.468G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021404" "00001145" "00" "396" "0" "396" "0" "c.396G>A" "" "p.(Trp132*)" "r.(?)" "" "" "" "" "" "-" "0000021404" "00001146" "00" "126" "0" "126" "0" "c.126G>A" "" "p.(Trp42*)" "r.(?)" "" "" "" "" "" "-" "0000021405" "00001144" "00" "486" "0" "486" "0" "c.486C>T" "" "" "" "" "" "" "" "" "-" "0000021405" "00001145" "00" "414" "0" "414" "0" "c.414C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021405" "00001146" "00" "144" "0" "144" "0" "c.144C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021406" "00001144" "00" "496" "0" "496" "0" "c.496G>T" "" "" "" "" "" "" "" "" "-" "0000021406" "00001145" "00" "424" "0" "424" "0" "c.424G>T" "" "p.(Ala142Ser)" "r.(?)" "" "" "" "" "" "-" "0000021406" "00001146" "00" "154" "0" "154" "0" "c.154G>T" "" "p.(Ala52Ser)" "r.(?)" "" "" "" "" "" "-" "0000021407" "00001144" "00" "502" "0" "502" "0" "c.502C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021407" "00001145" "00" "430" "0" "430" "0" "c.430C>T" "" "p.(Leu144Phe)" "r.(?)" "" "" "" "" "" "-" "0000021407" "00001146" "00" "160" "0" "160" "0" "c.160C>T" "" "p.(Leu54Phe)" "r.(?)" "" "" "" "" "" "-" "0000021408" "00001144" "00" "523" "0" "523" "0" "c.523G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021408" "00001145" "00" "451" "0" "451" "0" "c.451G>A" "" "p.(Val151Met)" "r.(?)" "" "" "" "" "" "-" "0000021408" "00001146" "00" "181" "0" "181" "0" "c.181G>A" "" "p.(Val61Met)" "r.(?)" "" "" "" "" "" "-" "0000021409" "00001144" "00" "525" "0" "525" "0" "c.525G>A" "" "" "" "" "" "" "" "" "-" "0000021409" "00001145" "00" "453" "0" "453" "0" "c.453G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021409" "00001146" "00" "183" "0" "183" "0" "c.183G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021410" "00001144" "00" "527" "0" "528" "0" "c.527_528del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021410" "00001145" "00" "455" "0" "456" "0" "c.455_456del" "" "p.(Val153Alafs*41)" "r.(?)" "" "" "" "" "" "-" "0000021410" "00001146" "00" "185" "0" "186" "0" "c.185_186del" "" "p.(Val63Alafs*41)" "r.(?)" "" "" "" "" "" "-" "0000021411" "00001144" "00" "527" "0" "527" "0" "c.527G>A" "" "" "" "" "" "" "" "" "-" "0000021411" "00001145" "00" "455" "0" "455" "0" "c.455G>A" "" "p.(Gly152Asp)" "r.(?)" "" "" "" "" "" "-" "0000021411" "00001146" "00" "185" "0" "185" "0" "c.185G>A" "" "p.(Gly62Asp)" "r.(?)" "" "" "" "" "" "-" "0000021412" "00001144" "00" "563" "0" "563" "0" "c.563C>G" "" "" "" "" "" "" "" "" "-" "0000021412" "00001145" "00" "491" "0" "491" "0" "c.491C>G" "" "p.(Ser164*)" "r.(?)" "" "" "" "" "" "-" "0000021412" "00001146" "00" "221" "0" "221" "0" "c.221C>G" "" "p.(Ser74*)" "r.(?)" "" "" "" "" "" "-" "0000021413" "00001144" "00" "570" "-1" "570" "-1" "c.570-1G>C" "" "" "" "" "" "" "" "" "-" "0000021413" "00001145" "00" "498" "-1" "498" "-1" "c.498-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021413" "00001146" "00" "228" "-1" "228" "-1" "c.228-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021414" "00001144" "00" "577" "0" "577" "0" "c.577C>T" "" "" "" "" "" "" "" "" "-" "0000021414" "00001145" "00" "505" "0" "505" "0" "c.505C>T" "" "p.(Arg169Trp)" "r.(?)" "" "" "" "" "" "-" "0000021414" "00001146" "00" "235" "0" "235" "0" "c.235C>T" "" "p.(Arg79Trp)" "r.(?)" "" "" "" "" "" "-" "0000021415" "00001144" "00" "578" "0" "578" "0" "c.578G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021415" "00001145" "00" "506" "0" "506" "0" "c.506G>A" "" "p.(Arg169Gln)" "r.(?)" "" "" "" "" "" "-" "0000021415" "00001146" "00" "236" "0" "236" "0" "c.236G>A" "" "p.(Arg79Gln)" "r.(?)" "" "" "" "" "" "-" "0000021416" "00001144" "00" "594" "0" "594" "0" "c.594C>T" "" "" "" "" "" "" "" "" "-" "0000021416" "00001145" "00" "522" "0" "522" "0" "c.522C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021416" "00001146" "00" "252" "0" "252" "0" "c.252C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021417" "00001144" "00" "595" "0" "595" "0" "c.595G>A" "" "" "" "" "" "" "" "" "-" "0000021417" "00001145" "00" "523" "0" "523" "0" "c.523G>A" "" "p.(Val175Met)" "r.(?)" "" "" "" "" "" "-" "0000021417" "00001146" "00" "253" "0" "253" "0" "c.253G>A" "" "p.(Val85Met)" "r.(?)" "" "" "" "" "" "-" "0000021418" "00001144" "00" "607" "0" "607" "0" "c.607A>T" "" "" "" "" "" "" "" "" "-" "0000021418" "00001145" "00" "535" "0" "535" "0" "c.535A>T" "" "p.(Met179Leu)" "r.(?)" "" "" "" "" "" "-" "0000021418" "00001146" "00" "265" "0" "265" "0" "c.265A>T" "" "p.(Met89Leu)" "r.(?)" "" "" "" "" "" "-" "0000021419" "00001144" "00" "629" "0" "629" "0" "c.629T>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021419" "00001145" "00" "557" "0" "557" "0" "c.557T>C" "" "p.(Leu186Pro)" "r.(?)" "" "" "" "" "" "-" "0000021419" "00001146" "00" "287" "0" "287" "0" "c.287T>C" "" "p.(Leu96Pro)" "r.(?)" "" "" "" "" "" "-" "0000021420" "00001144" "00" "664" "0" "664" "0" "c.664G>A" "" "" "" "" "" "" "" "" "-" "0000021420" "00001145" "00" "592" "0" "592" "0" "c.592G>A" "" "p.(Val198Met)" "r.(?)" "" "" "" "" "" "-" "0000021420" "00001146" "00" "322" "0" "322" "0" "c.322G>A" "" "p.(Val108Met)" "r.(?)" "" "" "" "" "" "-" "0000021421" "00001144" "00" "677" "0" "677" "0" "c.677T>C" "" "" "" "" "" "" "" "" "-" "0000021421" "00001145" "00" "605" "0" "605" "0" "c.605T>C" "" "p.(Leu202Pro)" "r.(?)" "" "" "" "" "" "-" "0000021421" "00001146" "00" "335" "0" "335" "0" "c.335T>C" "" "p.(Leu112Pro)" "r.(?)" "" "" "" "" "" "-" "0000021422" "00001144" "00" "686" "0" "686" "0" "c.686T>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021422" "00001145" "00" "614" "0" "614" "0" "c.614T>G" "" "p.(Met205Arg)" "r.(?)" "" "" "" "" "" "-" "0000021422" "00001146" "00" "344" "0" "344" "0" "c.344T>G" "" "p.(Met115Arg)" "r.(?)" "" "" "" "" "" "-" "0000021423" "00001144" "00" "701" "0" "701" "0" "c.701A>G" "" "" "" "" "" "" "" "" "-" "0000021423" "00001145" "00" "629" "0" "629" "0" "c.629A>G" "" "p.(Asn210Ser)" "r.(?)" "" "" "" "" "" "-" "0000021423" "00001146" "00" "359" "0" "359" "0" "c.359A>G" "" "p.(Asn120Ser)" "r.(?)" "" "" "" "" "" "-" "0000021424" "00001144" "00" "704" "0" "704" "0" "c.704A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021424" "00001145" "00" "632" "0" "632" "0" "c.632A>G" "" "p.(Tyr211Cys)" "r.(?)" "" "" "" "" "" "-" "0000021424" "00001146" "00" "362" "0" "362" "0" "c.362A>G" "" "p.(Tyr121Cys)" "r.(?)" "" "" "" "" "" "-" "0000021425" "00001144" "00" "713" "0" "713" "0" "c.713C>T" "" "" "" "" "" "" "" "" "-" "0000021425" "00001145" "00" "641" "0" "641" "0" "c.641C>T" "" "p.(Ala214Val)" "r.(?)" "" "" "" "" "" "-" "0000021425" "00001146" "00" "371" "0" "371" "0" "c.371C>T" "" "p.(Ala124Val)" "r.(?)" "" "" "" "" "" "-" "0000021426" "00001144" "00" "724" "1" "724" "1" "c.724+1G>A" "" "" "" "" "" "" "" "" "-" "0000021426" "00001145" "00" "652" "1" "652" "1" "c.652+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021426" "00001146" "00" "382" "1" "382" "1" "c.382+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021427" "00001144" "00" "724" "6" "724" "6" "c.724+6A>G" "" "" "" "" "" "" "" "" "-" "0000021427" "00001145" "00" "652" "6" "652" "6" "c.652+6A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021427" "00001146" "00" "382" "6" "382" "6" "c.382+6A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021428" "00001144" "00" "724" "77" "724" "77" "c.724+77A>G" "" "" "" "" "" "" "" "" "-" "0000021428" "00001145" "00" "652" "77" "652" "77" "c.652+77A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021428" "00001146" "00" "382" "77" "382" "77" "c.382+77A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021429" "00001144" "00" "725" "-10" "725" "-10" "c.725-10T>A" "" "" "" "" "" "" "" "" "-" "0000021429" "00001145" "00" "653" "-10" "653" "-10" "c.653-10T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021429" "00001146" "00" "383" "-10" "383" "-10" "c.383-10T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021430" "00001144" "00" "725" "-2" "725" "-2" "c.725-2A>C" "" "" "" "" "" "" "" "" "-" "0000021430" "00001145" "00" "653" "-2" "653" "-2" "c.653-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021430" "00001146" "00" "383" "-2" "383" "-2" "c.383-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021431" "00001144" "00" "725" "-1" "822" "0" "c.725-1_822del" "" "" "" "" "" "" "" "" "-" "0000021431" "00001145" "00" "653" "-1" "750" "0" "c.653-1_750del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021431" "00001146" "00" "383" "-1" "480" "0" "c.383-1_480del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021432" "00001144" "00" "731" "0" "731" "0" "c.731A>T" "" "" "" "" "" "" "" "" "-" "0000021432" "00001145" "00" "659" "0" "659" "0" "c.659A>T" "" "p.(Glu220Val)" "r.(?)" "" "" "" "" "" "-" "0000021432" "00001146" "00" "389" "0" "389" "0" "c.389A>T" "" "p.(Glu130Val)" "r.(?)" "" "" "" "" "" "-" "0000021433" "00001144" "00" "746" "0" "746" "0" "c.746C>T" "" "" "" "" "" "" "" "" "-" "0000021433" "00001145" "00" "674" "0" "674" "0" "c.674C>T" "" "p.(Ser225Leu)" "r.(?)" "" "" "" "" "" "-" "0000021433" "00001146" "00" "404" "0" "404" "0" "c.404C>T" "" "p.(Ser135Leu)" "r.(?)" "" "" "" "" "" "-" "0000021434" "00001144" "00" "752" "0" "752" "0" "c.752G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021434" "00001145" "00" "680" "0" "680" "0" "c.680G>A" "" "p.(Arg227His)" "r.(?)" "" "" "" "" "" "-" "0000021434" "00001146" "00" "410" "0" "410" "0" "c.410G>A" "" "p.(Arg137His)" "r.(?)" "" "" "" "" "" "-" "0000021435" "00001144" "00" "760" "0" "760" "0" "c.760T>C" "" "" "" "" "" "" "" "" "-" "0000021435" "00001145" "00" "688" "0" "688" "0" "c.688T>C" "" "p.(Phe230Leu)" "r.(?)" "" "" "" "" "" "-" "0000021435" "00001146" "00" "418" "0" "418" "0" "c.418T>C" "" "p.(Phe140Leu)" "r.(?)" "" "" "" "" "" "-" "0000021436" "00001144" "00" "764" "0" "764" "0" "c.764C>T" "" "" "" "" "" "" "" "" "-" "0000021436" "00001145" "00" "692" "0" "692" "0" "c.692C>T" "" "p.(Ser231Phe)" "r.(?)" "" "" "" "" "" "-" "0000021436" "00001146" "00" "422" "0" "422" "0" "c.422C>T" "" "p.(Ser141Phe)" "r.(?)" "" "" "" "" "" "-" "0000021437" "00001144" "00" "767" "0" "767" "0" "c.767C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021437" "00001145" "00" "695" "0" "695" "0" "c.695C>T" "" "p.(Thr232Met)" "r.(?)" "" "" "" "" "" "-" "0000021437" "00001146" "00" "425" "0" "425" "0" "c.425C>T" "" "p.(Thr142Met)" "r.(?)" "" "" "" "" "" "-" "0000021438" "00001144" "00" "797" "0" "797" "0" "c.797G>T" "" "" "" "" "" "" "" "" "-" "0000021438" "00001145" "00" "725" "0" "725" "0" "c.725G>T" "" "p.(Gly242Val)" "r.(?)" "" "" "" "" "" "-" "0000021438" "00001146" "00" "455" "0" "455" "0" "c.455G>T" "" "p.(Gly152Val)" "r.(?)" "" "" "" "" "" "-" "0000021439" "00001144" "00" "826" "0" "826" "0" "c.826del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021439" "00001145" "00" "754" "0" "754" "0" "c.754del" "" "p.(Phe252Serfs*12)" "r.(?)" "" "" "" "" "" "-" "0000021439" "00001146" "00" "484" "0" "484" "0" "c.484del" "" "p.(Phe162Serfs*12)" "r.(?)" "" "" "" "" "" "-" "0000021440" "00001144" "00" "832" "0" "832" "0" "c.832C>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021440" "00001145" "00" "760" "0" "760" "0" "c.760C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021440" "00001146" "00" "490" "0" "490" "0" "c.490C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021441" "00001144" "00" "832" "0" "832" "0" "c.832C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021441" "00001145" "00" "760" "0" "760" "0" "c.760C>T" "" "p.(Arg254*)" "r.(?)" "" "" "" "" "" "-" "0000021441" "00001146" "00" "490" "0" "490" "0" "c.490C>T" "" "p.(Arg164*)" "r.(?)" "" "" "" "" "" "-" "0000021442" "00001144" "00" "833" "0" "833" "0" "c.833G>A" "" "" "" "" "" "" "" "" "-" "0000021442" "00001145" "00" "761" "0" "761" "0" "c.761G>A" "" "p.(Arg254Gln)" "r.(?)" "" "" "" "" "" "-" "0000021442" "00001146" "00" "491" "0" "491" "0" "c.491G>A" "" "p.(Arg164Gln)" "r.(?)" "" "" "" "" "" "-" "0000021443" "00001144" "00" "835" "0" "835" "0" "c.835G>A" "" "" "" "" "" "" "" "" "-" "0000021443" "00001145" "00" "763" "0" "763" "0" "c.763G>A" "" "p.(Asp255Asn)" "r.(?)" "" "" "" "" "" "-" "0000021443" "00001146" "00" "493" "0" "493" "0" "c.493G>A" "" "p.(Asp165Asn)" "r.(?)" "" "" "" "" "" "-" "0000021444" "00001144" "00" "840" "0" "840" "0" "c.840G>A" "" "" "" "" "" "" "" "" "-" "0000021444" "00001145" "00" "768" "0" "768" "0" "c.768G>A" "" "p.(Trp256*)" "r.(?)" "" "" "" "" "" "-" "0000021444" "00001146" "00" "498" "0" "498" "0" "c.498G>A" "" "p.(Trp166*)" "r.(?)" "" "" "" "" "" "-" "0000021445" "00001144" "00" "841" "0" "841" "0" "c.841C>T" "" "" "" "" "" "" "" "" "-" "0000021445" "00001145" "00" "769" "0" "769" "0" "c.769C>T" "" "p.(Arg257Trp)" "r.(?)" "" "" "" "" "" "-" "0000021445" "00001146" "00" "499" "0" "499" "0" "c.499C>T" "" "p.(Arg167Trp)" "r.(?)" "" "" "" "" "" "-" "0000021446" "00001144" "00" "863" "0" "863" "0" "c.863C>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021446" "00001145" "00" "791" "0" "791" "0" "c.791C>G" "" "p.(Thr264Arg)" "r.(?)" "" "" "" "" "" "-" "0000021446" "00001146" "00" "521" "0" "521" "0" "c.521C>G" "" "p.(Thr174Arg)" "r.(?)" "" "" "" "" "" "-" "0000021447" "00001144" "00" "863" "0" "863" "0" "c.863C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021447" "00001145" "00" "791" "0" "791" "0" "c.791C>T" "" "p.(Thr264Met)" "r.(?)" "" "" "" "" "" "-" "0000021447" "00001146" "00" "521" "0" "521" "0" "c.521C>T" "" "p.(Thr174Met)" "r.(?)" "" "" "" "" "" "-" "0000021448" "00001144" "00" "870" "0" "870" "0" "c.870G>A" "" "" "" "" "" "" "" "" "-" "0000021448" "00001145" "00" "798" "0" "798" "0" "c.798G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021448" "00001146" "00" "528" "0" "528" "0" "c.528G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021449" "00001144" "00" "878" "0" "878" "0" "c.878del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021449" "00001145" "00" "806" "0" "806" "0" "c.806del" "" "p.(Leu269Hisfs*27)" "r.(?)" "" "" "" "" "" "-" "0000021449" "00001146" "00" "536" "0" "536" "0" "c.536del" "" "p.(Leu179Hisfs*27)" "r.(?)" "" "" "" "" "" "-" "0000021451" "00001144" "00" "879" "0" "879" "0" "c.879A>G" "" "" "" "" "" "" "" "" "-" "0000021451" "00001145" "00" "807" "0" "807" "0" "c.807A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021451" "00001146" "00" "537" "0" "537" "0" "c.537A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021452" "00001144" "00" "890" "0" "890" "0" "c.890T>C" "" "" "" "" "" "" "" "" "-" "0000021452" "00001145" "00" "818" "0" "818" "0" "c.818T>C" "" "p.(Leu273Pro)" "r.(?)" "" "" "" "" "" "-" "0000021452" "00001146" "00" "548" "0" "548" "0" "c.548T>C" "" "p.(Leu183Pro)" "r.(?)" "" "" "" "" "" "-" "0000021454" "00001144" "00" "896" "13" "896" "13" "c.896+13T>C" "" "" "" "" "" "" "" "" "-" "0000021454" "00001145" "00" "824" "13" "824" "13" "c.824+13T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021454" "00001146" "00" "554" "13" "554" "13" "c.554+13T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021455" "00001144" "00" "897" "-1" "897" "-1" "c.897-1G>C" "" "" "" "" "" "" "" "" "-" "0000021455" "00001145" "00" "825" "-1" "825" "-1" "c.825-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021455" "00001146" "00" "555" "-1" "555" "-1" "c.555-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021456" "00001144" "00" "897" "0" "897" "0" "c.897G>A" "" "" "" "" "" "" "" "" "-" "0000021456" "00001145" "00" "825" "0" "825" "0" "c.825G>A" "" "p.(Trp275*)" "r.(?)" "" "" "" "" "" "-" "0000021456" "00001146" "00" "555" "0" "555" "0" "c.555G>A" "" "p.(Trp185*)" "r.(?)" "" "" "" "" "" "-" "0000021457" "00001144" "00" "911" "0" "911" "0" "c.911del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021457" "00001145" "00" "839" "0" "839" "0" "c.839del" "" "p.(Arg282Aspfs*14)" "r.(?)" "" "" "" "" "" "-" "0000021457" "00001146" "00" "569" "0" "569" "0" "c.569del" "" "p.(Arg192Aspfs*14)" "r.(?)" "" "" "" "" "" "-" "0000021458" "00001144" "00" "911" "0" "911" "0" "c.911C>T" "" "" "" "" "" "" "" "" "-" "0000021458" "00001145" "00" "839" "0" "839" "0" "c.839C>T" "" "p.(Ser280Phe)" "r.(?)" "" "" "" "" "" "-" "0000021458" "00001146" "00" "569" "0" "569" "0" "c.569C>T" "" "p.(Ser190Phe)" "r.(?)" "" "" "" "" "" "-" "0000021459" "00001144" "00" "916" "0" "916" "0" "c.916C>T" "" "" "" "" "" "" "" "" "-" "0000021459" "00001145" "00" "844" "0" "844" "0" "c.844C>T" "" "p.(Arg282*)" "r.(?)" "" "" "" "" "" "-" "0000021459" "00001146" "00" "574" "0" "574" "0" "c.574C>T" "" "p.(Arg192*)" "r.(?)" "" "" "" "" "" "-" "0000021460" "00001144" "00" "917" "0" "917" "0" "c.917G>A" "" "" "" "" "" "" "" "" "-" "0000021460" "00001145" "00" "845" "0" "845" "0" "c.845G>A" "" "p.(Arg282Gln)" "r.(?)" "" "" "" "" "" "-" "0000021460" "00001146" "00" "575" "0" "575" "0" "c.575G>A" "" "p.(Arg192Gln)" "r.(?)" "" "" "" "" "" "-" "0000021461" "00001144" "00" "919" "0" "919" "0" "c.919T>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021461" "00001145" "00" "847" "0" "847" "0" "c.847T>C" "" "p.(Trp283Arg)" "r.(?)" "" "" "" "" "" "-" "0000021461" "00001146" "00" "577" "0" "577" "0" "c.577T>C" "" "p.(Trp193Arg)" "r.(?)" "" "" "" "" "" "-" "0000021462" "00001144" "00" "919" "0" "919" "0" "c.919T>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021462" "00001145" "00" "847" "0" "847" "0" "c.847T>A" "" "p.(Trp283Arg)" "r.(?)" "" "" "" "" "" "-" "0000021462" "00001146" "00" "577" "0" "577" "0" "c.577T>A" "" "p.(Trp193Arg)" "r.(?)" "" "" "" "" "" "-" "0000021463" "00001144" "00" "921" "0" "921" "0" "c.921G>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021463" "00001145" "00" "849" "0" "849" "0" "c.849G>T" "" "p.(Trp283Cys)" "r.(?)" "" "" "" "" "" "-" "0000021463" "00001146" "00" "579" "0" "579" "0" "c.579G>T" "" "p.(Trp193Cys)" "r.(?)" "" "" "" "" "" "-" "0000021464" "00001144" "00" "924" "0" "924" "0" "c.924C>T" "" "" "" "" "" "" "" "" "-" "0000021464" "00001145" "00" "852" "0" "852" "0" "c.852C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021464" "00001146" "00" "582" "0" "582" "0" "c.582C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021465" "00001144" "00" "937" "0" "937" "0" "c.937C>T" "" "" "" "" "" "" "" "" "-" "0000021465" "00001145" "00" "865" "0" "865" "0" "c.865C>T" "" "p.(Arg289*)" "r.(?)" "" "" "" "" "" "-" "0000021465" "00001146" "00" "595" "0" "595" "0" "c.595C>T" "" "p.(Arg199*)" "r.(?)" "" "" "" "" "" "-" "0000021466" "00001144" "00" "953" "0" "953" "0" "c.953del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021466" "00001145" "00" "881" "0" "881" "0" "c.881del" "" "p.(Glu294Glyfs*2)" "r.(?)" "" "" "" "" "" "-" "0000021466" "00001146" "00" "611" "0" "611" "0" "c.611del" "" "p.(Glu204Glyfs*2)" "r.(?)" "" "" "" "" "" "-" "0000021467" "00001144" "00" "974" "0" "974" "0" "c.974C>A" "" "" "" "" "" "" "" "" "-" "0000021467" "00001145" "00" "902" "0" "902" "0" "c.902C>A" "" "p.(Ala301Asp)" "r.(?)" "" "" "" "" "" "-" "0000021467" "00001146" "00" "632" "0" "632" "0" "c.632C>A" "" "p.(Ala211Asp)" "r.(?)" "" "" "" "" "" "-" "0000021468" "00001144" "00" "976" "0" "976" "0" "c.976A>G" "" "" "" "" "" "" "" "" "-" "0000021468" "00001145" "00" "904" "0" "904" "0" "c.904A>G" "" "p.(Lys302Glu)" "r.(?)" "" "" "" "" "" "-" "0000021468" "00001146" "00" "634" "0" "634" "0" "c.634A>G" "" "p.(Lys212Glu)" "r.(?)" "" "" "" "" "" "-" "0000021469" "00001144" "00" "1006" "0" "1006" "0" "c.1006A>G" "" "" "" "" "" "" "" "" "-" "0000021469" "00001145" "00" "934" "0" "934" "0" "c.934A>G" "" "p.(Ile312Val)" "r.(?)" "" "" "" "" "" "-" "0000021469" "00001146" "00" "664" "0" "664" "0" "c.664A>G" "" "p.(Ile222Val)" "r.(?)" "" "" "" "" "" "-" "0000021470" "00001144" "00" "1011" "0" "1011" "0" "c.1011T>A" "" "" "" "" "" "" "" "" "-" "0000021470" "00001145" "00" "939" "0" "939" "0" "c.939T>A" "" "p.(Phe313Leu)" "r.(?)" "" "" "" "" "" "-" "0000021470" "00001146" "00" "669" "0" "669" "0" "c.669T>A" "" "p.(Phe223Leu)" "r.(?)" "" "" "" "" "" "-" "0000021471" "00001144" "00" "1016" "0" "1016" "0" "c.1016C>T" "" "" "" "" "" "" "" "" "-" "0000021471" "00001145" "00" "944" "0" "944" "0" "c.944C>T" "" "p.(Pro315Leu)" "r.(?)" "" "" "" "" "" "-" "0000021471" "00001146" "00" "674" "0" "674" "0" "c.674C>T" "" "p.(Pro225Leu)" "r.(?)" "" "" "" "" "" "-" "0000021472" "00001144" "00" "1024" "-14" "1024" "-14" "c.1024-14T>C" "" "" "" "" "" "" "" "" "-" "0000021472" "00001145" "00" "952" "-14" "952" "-14" "c.952-14T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021472" "00001146" "00" "682" "-14" "682" "-14" "c.682-14T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021473" "00001144" "00" "1052" "0" "1052" "0" "c.1052A>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021473" "00001145" "00" "980" "0" "980" "0" "c.980A>C" "" "p.(Gln327Pro)" "r.(?)" "" "" "" "" "" "-" "0000021473" "00001146" "00" "710" "0" "710" "0" "c.710A>C" "" "p.(Gln237Pro)" "r.(?)" "" "" "" "" "" "-" "0000021474" "00001144" "00" "1080" "0" "1080" "0" "c.1080del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021474" "00001145" "00" "1008" "0" "1008" "0" "c.1008del" "" "p.(Thr337Profs*12)" "r.(?)" "" "" "" "" "" "-" "0000021474" "00001146" "00" "738" "0" "738" "0" "c.738del" "" "p.(Thr247Profs*12)" "r.(?)" "" "" "" "" "" "-" "0000021475" "00001144" "00" "1082" "0" "1082" "0" "c.1082C>T" "" "" "" "" "" "" "" "" "-" "0000021475" "00001145" "00" "1010" "0" "1010" "0" "c.1010C>T" "" "p.(Thr337Ile)" "r.(?)" "" "" "" "" "" "-" "0000021475" "00001146" "00" "740" "0" "740" "0" "c.740C>T" "" "p.(Thr247Ile)" "r.(?)" "" "" "" "" "" "-" "0000021476" "00001144" "00" "1115" "0" "1115" "0" "c.1115T>C" "" "" "" "" "" "" "" "" "-" "0000021476" "00001145" "00" "1043" "0" "1043" "0" "c.1043T>C" "" "p.(Ile348Thr)" "r.(?)" "" "" "" "" "" "-" "0000021476" "00001146" "00" "773" "0" "773" "0" "c.773T>C" "" "p.(Ile258Thr)" "r.(?)" "" "" "" "" "" "-" "0000021477" "00001144" "00" "1123" "0" "1123" "0" "c.1123T>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021477" "00001145" "00" "1051" "0" "1051" "0" "c.1051T>C" "" "p.(Trp351Arg)" "r.(?)" "" "" "" "" "" "-" "0000021477" "00001146" "00" "781" "0" "781" "0" "c.781T>C" "" "p.(Trp261Arg)" "r.(?)" "" "" "" "" "" "-" "0000021478" "00001144" "00" "1157" "0" "1157" "0" "c.1157C>T" "" "" "" "" "" "" "" "" "-" "0000021478" "00001145" "00" "1085" "0" "1085" "0" "c.1085C>T" "" "p.(Ser362Leu)" "r.(?)" "" "" "" "" "" "-" "0000021478" "00001146" "00" "815" "0" "815" "0" "c.815C>T" "" "p.(Ser272Leu)" "r.(?)" "" "" "" "" "" "-" "0000021479" "00001144" "00" "1160" "0" "1160" "0" "c.1160T>C" "" "" "" "" "" "" "" "" "-" "0000021479" "00001145" "00" "1088" "0" "1088" "0" "c.1088T>C" "" "p.(Leu363Pro)" "r.(?)" "" "" "" "" "" "-" "0000021479" "00001146" "00" "818" "0" "818" "0" "c.818T>C" "" "p.(Leu273Pro)" "r.(?)" "" "" "" "" "" "-" "0000021480" "00001144" "00" "1185" "0" "1185" "0" "c.1185C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021480" "00001145" "00" "1113" "0" "1113" "0" "c.1113C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021480" "00001146" "00" "843" "0" "843" "0" "c.843C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021481" "00001144" "00" "1192" "0" "1192" "0" "c.1192G>A" "" "" "" "" "" "" "" "" "-" "0000021481" "00001145" "00" "1120" "0" "1120" "0" "c.1120G>A" "" "p.(Val374Met)" "r.(?)" "" "" "" "" "" "-" "0000021481" "00001146" "00" "850" "0" "850" "0" "c.850G>A" "" "p.(Val284Met)" "r.(?)" "" "" "" "" "" "-" "0000021482" "00001144" "00" "1197" "0" "1197" "0" "c.1197C>T" "" "" "" "" "" "" "" "" "-" "0000021482" "00001145" "00" "1125" "0" "1125" "0" "c.1125C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021482" "00001146" "00" "855" "0" "855" "0" "c.855C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021483" "00001144" "00" "1214" "0" "1214" "0" "c.1214T>C" "" "" "" "" "" "" "" "" "-" "0000021483" "00001145" "00" "1142" "0" "1142" "0" "c.1142T>C" "" "p.(Met381Thr)" "r.(?)" "" "" "" "" "" "-" "0000021483" "00001146" "00" "872" "0" "872" "0" "c.872T>C" "" "p.(Met291Thr)" "r.(?)" "" "" "" "" "" "-" "0000021484" "00001144" "00" "1233" "0" "1233" "0" "c.1233T>G" "" "" "" "" "" "" "" "" "-" "0000021484" "00001145" "00" "1161" "0" "1161" "0" "c.1161T>G" "" "p.(Tyr387*)" "r.(?)" "" "" "" "" "" "-" "0000021484" "00001146" "00" "891" "0" "891" "0" "c.891T>G" "" "p.(Tyr297*)" "r.(?)" "" "" "" "" "" "-" "0000021485" "00001144" "00" "1245" "0" "1247" "0" "c.1245_1247del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021485" "00001145" "00" "1173" "0" "1175" "0" "c.1173_1175del" "" "p.(Leu394del)" "r.(?)" "" "" "" "" "" "-" "0000021485" "00001146" "00" "903" "0" "905" "0" "c.903_905del" "" "p.(Leu304del)" "r.(?)" "" "" "" "" "" "-" "0000021486" "00001144" "00" "1244" "0" "1244" "0" "c.1244G>A" "" "" "" "" "" "" "" "" "-" "0000021486" "00001145" "00" "1172" "0" "1172" "0" "c.1172G>A" "" "p.(Trp391*)" "r.(?)" "" "" "" "" "" "-" "0000021486" "00001146" "00" "902" "0" "902" "0" "c.902G>A" "" "p.(Trp301*)" "r.(?)" "" "" "" "" "" "-" "0000021487" "00001144" "00" "1257" "0" "1257" "0" "c.1257A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021487" "00001145" "00" "1185" "0" "1185" "0" "c.1185A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021487" "00001146" "00" "915" "0" "915" "0" "c.915A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021488" "00001144" "00" "1260" "0" "1260" "0" "c.1260T>G" "" "" "" "" "" "" "" "" "-" "0000021488" "00001145" "00" "1188" "0" "1188" "0" "c.1188T>G" "" "p.(Tyr396*)" "r.(?)" "" "" "" "" "" "-" "0000021488" "00001146" "00" "918" "0" "918" "0" "c.918T>G" "" "p.(Tyr306*)" "r.(?)" "" "" "" "" "" "-" "0000021489" "00001144" "00" "1265" "0" "1265" "0" "c.1265C>T" "" "" "" "" "" "" "" "" "-" "0000021489" "00001145" "00" "1193" "0" "1193" "0" "c.1193C>T" "" "p.(Pro398Leu)" "r.(?)" "" "" "" "" "" "-" "0000021489" "00001146" "00" "923" "0" "923" "0" "c.923C>T" "" "p.(Pro308Leu)" "r.(?)" "" "" "" "" "" "-" "0000021490" "00001144" "00" "1267" "0" "1267" "0" "c.1267C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021490" "00001145" "00" "1195" "0" "1195" "0" "c.1195C>T" "" "p.(Arg399Trp)" "r.(?)" "" "" "" "" "" "-" "0000021490" "00001146" "00" "925" "0" "925" "0" "c.925C>T" "" "p.(Arg309Trp)" "r.(?)" "" "" "" "" "" "-" "0000021491" "00001144" "00" "1268" "0" "1268" "0" "c.1268G>A" "" "" "" "" "" "" "" "" "-" "0000021491" "00001145" "00" "1196" "0" "1196" "0" "c.1196G>A" "" "p.(Arg399Gln)" "r.(?)" "" "" "" "" "" "-" "0000021491" "00001146" "00" "926" "0" "926" "0" "c.926G>A" "" "p.(Arg309Gln)" "r.(?)" "" "" "" "" "" "-" "0000021492" "00001144" "00" "1273" "0" "1274" "0" "c.1273_1274insA" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021492" "00001145" "00" "1201" "0" "1202" "0" "c.1201_1202insA" "" "p.(Tyr401*)" "r.(?)" "" "" "" "" "" "-" "0000021492" "00001146" "00" "931" "0" "932" "0" "c.931_932insA" "" "p.(Tyr311*)" "r.(?)" "" "" "" "" "" "-" "0000021493" "00001144" "00" "1291" "0" "1291" "0" "c.1291C>T" "" "" "" "" "" "" "" "" "-" "0000021493" "00001145" "00" "1219" "0" "1219" "0" "c.1219C>T" "" "p.(Leu407Phe)" "r.(?)" "" "" "" "" "" "-" "0000021493" "00001146" "00" "949" "0" "949" "0" "c.949C>T" "" "p.(Leu317Phe)" "r.(?)" "" "" "" "" "" "-" "0000021494" "00001144" "00" "1297" "0" "1297" "0" "c.1297C>G" "" "" "" "" "" "" "" "" "-" "0000021494" "00001145" "00" "1225" "0" "1225" "0" "c.1225C>G" "" "p.(Leu409Val)" "r.(?)" "" "" "" "" "" "-" "0000021494" "00001146" "00" "955" "0" "955" "0" "c.955C>G" "" "p.(Leu319Val)" "r.(?)" "" "" "" "" "" "-" "0000021495" "00001144" "00" "1310" "0" "1310" "0" "c.1310T>G" "" "" "" "" "" "" "" "" "-" "0000021495" "00001145" "00" "1238" "0" "1238" "0" "c.1238T>G" "" "p.(Val413Gly)" "r.(?)" "" "" "" "" "" "-" "0000021495" "00001146" "00" "968" "0" "968" "0" "c.968T>G" "" "p.(Val323Gly)" "r.(?)" "" "" "" "" "" "-" "0000021496" "00001144" "00" "1321" "0" "1321" "0" "c.1321A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021496" "00001145" "00" "1249" "0" "1249" "0" "c.1249A>G" "" "p.(Met417Val)" "r.(?)" "" "" "" "" "" "-" "0000021496" "00001146" "00" "979" "0" "979" "0" "c.979A>G" "" "p.(Met327Val)" "r.(?)" "" "" "" "" "" "-" "0000021497" "00001144" "00" "1321" "0" "1322" "0" "c.1321_1322insT" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021497" "00001145" "00" "1249" "0" "1250" "0" "c.1249_1250insT" "" "p.(Met417Ilefs*106)" "r.(?)" "" "" "" "" "" "-" "0000021497" "00001146" "00" "979" "0" "980" "0" "c.979_980insT" "" "p.(Met327Ilefs*106)" "r.(?)" "" "" "" "" "" "-" "0000021498" "00001144" "00" "1324" "0" "1324" "0" "c.1324C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021498" "00001145" "00" "1252" "0" "1252" "0" "c.1252C>T" "" "p.(Gln418*)" "r.(?)" "" "" "" "" "" "-" "0000021498" "00001146" "00" "982" "0" "982" "0" "c.982C>T" "" "p.(Gln328*)" "r.(?)" "" "" "" "" "" "-" "0000021499" "00001144" "00" "1339" "3" "1339" "23" "c.1339+3_1339+23del" "" "" "" "" "" "" "" "" "-" "0000021499" "00001145" "00" "1267" "3" "1267" "23" "c.1267+3_1267+23del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021499" "00001146" "00" "997" "3" "997" "23" "c.997+3_997+23del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021500" "00001144" "00" "1340" "-34" "1340" "-34" "c.1340-34A>G" "" "" "" "" "" "" "" "" "-" "0000021500" "00001145" "00" "1268" "-34" "1268" "-34" "c.1268-34A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021500" "00001146" "00" "998" "-34" "998" "-34" "c.998-34A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021501" "00001144" "00" "1368" "0" "1368" "0" "c.1368G>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021501" "00001145" "00" "1296" "0" "1296" "0" "c.1296G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021501" "00001146" "00" "1026" "0" "1026" "0" "c.1026G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021502" "00001144" "00" "1374" "0" "1374" "0" "c.1374del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021502" "00001145" "00" "1302" "0" "1302" "0" "c.1302del" "" "p.(Gly435Alafs*24)" "r.(?)" "" "" "" "" "" "-" "0000021502" "00001146" "00" "1032" "0" "1032" "0" "c.1032del" "" "p.(Gly345Alafs*24)" "r.(?)" "" "" "" "" "" "-" "0000021503" "00001144" "00" "1391" "0" "1391" "0" "c.1391C>T" "" "" "" "" "" "" "" "" "-" "0000021503" "00001145" "00" "1319" "0" "1319" "0" "c.1319C>T" "" "p.(Thr440Met)" "r.(?)" "" "" "" "" "" "-" "0000021503" "00001146" "00" "1049" "0" "1049" "0" "c.1049C>T" "" "p.(Thr350Met)" "r.(?)" "" "" "" "" "" "-" "0000021504" "00001144" "00" "1396" "0" "1397" "0" "c.1396_1397delinsAT" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021504" "00001145" "00" "1324" "0" "1325" "0" "c.1324_1325delinsAT" "" "p.(Ala442Ile)" "r.(?)" "" "" "" "" "" "-" "0000021504" "00001146" "00" "1054" "0" "1055" "0" "c.1054_1055delinsAT" "" "p.(Ala352Ile)" "r.(?)" "" "" "" "" "" "-" "0000021505" "00001144" "00" "1408" "0" "1408" "0" "c.1408G>T" "" "" "" "" "" "" "" "" "-" "0000021505" "00001145" "00" "1336" "0" "1336" "0" "c.1336G>T" "" "p.(Val446Phe)" "r.(?)" "" "" "" "" "" "-" "0000021505" "00001146" "00" "1066" "0" "1066" "0" "c.1066G>T" "" "p.(Val356Phe)" "r.(?)" "" "" "" "" "" "-" "0000021506" "00001144" "00" "1412" "0" "1412" "0" "c.1412A>G" "" "" "" "" "" "" "" "" "-" "0000021506" "00001145" "00" "1340" "0" "1340" "0" "c.1340A>G" "" "p.(Tyr447Cys)" "r.(?)" "" "" "" "" "" "-" "0000021506" "00001146" "00" "1070" "0" "1070" "0" "c.1070A>G" "" "p.(Tyr357Cys)" "r.(?)" "" "" "" "" "" "-" "0000021507" "00001144" "00" "1413" "0" "1413" "0" "c.1413C>T" "" "" "" "" "" "" "" "" "-" "0000021507" "00001145" "00" "1341" "0" "1341" "0" "c.1341C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021507" "00001146" "00" "1071" "0" "1071" "0" "c.1071C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021508" "00001144" "00" "1414" "0" "1414" "0" "c.1414G>T" "" "" "" "" "" "" "" "" "-" "0000021508" "00001145" "00" "1342" "0" "1342" "0" "c.1342G>T" "" "p.(Val448Leu)" "r.(?)" "" "" "" "" "" "-" "0000021508" "00001146" "00" "1072" "0" "1072" "0" "c.1072G>T" "" "p.(Val358Leu)" "r.(?)" "" "" "" "" "" "-" "0000021509" "00001144" "00" "1417" "0" "1417" "0" "c.1417T>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021509" "00001145" "00" "1345" "0" "1345" "0" "c.1345T>G" "" "p.(Tyr449Asp)" "r.(?)" "" "" "" "" "" "-" "0000021509" "00001146" "00" "1075" "0" "1075" "0" "c.1075T>G" "" "p.(Tyr359Asp)" "r.(?)" "" "" "" "" "" "-" "0000021510" "00001144" "00" "1426" "0" "1426" "0" "c.1426G>A" "" "" "" "" "" "" "" "" "-" "0000021510" "00001145" "00" "1354" "0" "1354" "0" "c.1354G>A" "" "p.(Glu452Lys)" "r.(?)" "" "" "" "" "" "-" "0000021510" "00001146" "00" "1084" "0" "1084" "0" "c.1084G>A" "" "p.(Glu362Lys)" "r.(?)" "" "" "" "" "" "-" "0000021511" "00001144" "00" "1434" "0" "1435" "0" "c.1434_1435insC" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021511" "00001145" "00" "1362" "0" "1363" "0" "c.1362_1363insC" "" "p.(Thr456Hisfs*67)" "r.(?)" "" "" "" "" "" "-" "0000021511" "00001146" "00" "1092" "0" "1093" "0" "c.1092_1093insC" "" "p.(Thr366Hisfs*67)" "r.(?)" "" "" "" "" "" "-" "0000021512" "00001144" "00" "1440" "0" "1440" "0" "c.1440A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021512" "00001145" "00" "1368" "0" "1368" "0" "c.1368A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021512" "00001146" "00" "1098" "0" "1098" "0" "c.1098A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021513" "00001144" "00" "1449" "0" "1449" "0" "c.1449A>G" "" "" "" "" "" "" "" "" "-" "0000021513" "00001145" "00" "1377" "0" "1377" "0" "c.1377A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021513" "00001146" "00" "1107" "0" "1107" "0" "c.1107A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021514" "00001144" "00" "1452" "0" "1452" "0" "c.1452C>T" "" "" "" "" "" "" "" "" "-" "0000021514" "00001145" "00" "1380" "0" "1380" "0" "c.1380C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021514" "00001146" "00" "1110" "0" "1110" "0" "c.1110C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021515" "00001144" "00" "1464" "0" "1481" "0" "c.1464_1481delinsCA" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021515" "00001145" "00" "1392" "0" "1409" "0" "c.1392_1409delinsCA" "" "p.(Val465Thrfs*29)" "r.(?)" "" "" "" "" "" "-" "0000021515" "00001146" "00" "1122" "0" "1139" "0" "c.1122_1139delinsCA" "" "p.(Val375Thrfs*29)" "r.(?)" "" "" "" "" "" "-" "0000021516" "00001144" "00" "1472" "0" "1472" "0" "c.1472C>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021516" "00001145" "00" "1400" "0" "1400" "0" "c.1400C>G" "" "p.(Ser467Cys)" "r.(?)" "" "" "" "" "" "-" "0000021516" "00001146" "00" "1130" "0" "1130" "0" "c.1130C>G" "" "p.(Ser377Cys)" "r.(?)" "" "" "" "" "" "-" "0000021517" "00001144" "00" "1475" "0" "1475" "0" "c.1475C>G" "" "" "" "" "" "" "" "" "-" "0000021517" "00001145" "00" "1403" "0" "1403" "0" "c.1403C>G" "" "p.(Thr468Arg)" "r.(?)" "" "" "" "" "" "-" "0000021517" "00001146" "00" "1133" "0" "1133" "0" "c.1133C>G" "" "p.(Thr378Arg)" "r.(?)" "" "" "" "" "" "-" "0000021518" "00001144" "00" "1475" "0" "1475" "0" "c.1475C>A" "" "" "" "" "" "" "" "" "-" "0000021518" "00001145" "00" "1403" "0" "1403" "0" "c.1403C>A" "" "p.(Thr468Lys)" "r.(?)" "" "" "" "" "" "-" "0000021518" "00001146" "00" "1133" "0" "1133" "0" "c.1133C>A" "" "p.(Thr378Lys)" "r.(?)" "" "" "" "" "" "-" "0000021519" "00001144" "00" "1481" "0" "1481" "0" "c.1481C>T" "" "" "" "" "" "" "" "" "-" "0000021519" "00001145" "00" "1409" "0" "1409" "0" "c.1409C>T" "" "p.(Ser470Phe)" "r.(?)" "" "" "" "" "" "-" "0000021519" "00001146" "00" "1139" "0" "1139" "0" "c.1139C>T" "" "p.(Ser380Phe)" "r.(?)" "" "" "" "" "" "-" "0000021520" "00001144" "00" "1483" "0" "1483" "0" "c.1483C>T" "" "" "" "" "" "" "" "" "-" "0000021520" "00001145" "00" "1411" "0" "1411" "0" "c.1411C>T" "" "p.(Arg471Cys)" "r.(?)" "" "" "" "" "" "-" "0000021520" "00001146" "00" "1141" "0" "1141" "0" "c.1141C>T" "" "p.(Arg381Cys)" "r.(?)" "" "" "" "" "" "-" "0000021521" "00001144" "00" "1484" "0" "1484" "0" "c.1484G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021521" "00001145" "00" "1412" "0" "1412" "0" "c.1412G>A" "" "p.(Arg471His)" "r.(?)" "" "" "" "" "" "-" "0000021521" "00001146" "00" "1142" "0" "1142" "0" "c.1142G>A" "" "p.(Arg381His)" "r.(?)" "" "" "" "" "" "-" "0000021522" "00001144" "00" "1505" "0" "1505" "0" "c.1505C>T" "" "" "" "" "" "" "" "" "-" "0000021522" "00001145" "00" "1433" "0" "1433" "0" "c.1433C>T" "" "p.(Pro478Leu)" "r.(?)" "" "" "" "" "" "-" "0000021522" "00001146" "00" "1163" "0" "1163" "0" "c.1163C>T" "" "p.(Pro388Leu)" "r.(?)" "" "" "" "" "" "-" "0000021523" "00001144" "00" "1506" "0" "1506" "0" "c.1506C>T" "" "" "" "" "" "" "" "" "-" "0000021523" "00001145" "00" "1434" "0" "1434" "0" "c.1434C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021523" "00001146" "00" "1164" "0" "1164" "0" "c.1164C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021524" "00001144" "00" "1513" "0" "1513" "0" "c.1513G>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021524" "00001145" "00" "1441" "0" "1441" "0" "c.1441G>T" "" "p.(Val481Phe)" "r.(?)" "" "" "" "" "" "-" "0000021524" "00001146" "00" "1171" "0" "1171" "0" "c.1171G>T" "" "p.(Val391Phe)" "r.(?)" "" "" "" "" "" "-" "0000021525" "00001144" "00" "1513" "0" "1513" "0" "c.1513G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021525" "00001145" "00" "1441" "0" "1441" "0" "c.1441G>A" "" "p.(Val481Ile)" "r.(?)" "" "" "" "" "" "-" "0000021525" "00001146" "00" "1171" "0" "1171" "0" "c.1171G>A" "" "p.(Val391Ile)" "r.(?)" "" "" "" "" "" "-" "0000021526" "00001144" "00" "1523" "-1" "1523" "-1" "c.1523-1G>A" "" "" "" "" "" "" "" "" "-" "0000021526" "00001145" "00" "1451" "-1" "1451" "-1" "c.1451-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021526" "00001146" "00" "1181" "-1" "1181" "-1" "c.1181-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021527" "00001144" "00" "1523" "0" "1523" "0" "c.1523G>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021527" "00001145" "00" "1451" "0" "1451" "0" "c.1451G>T" "" "p.(Gly484Val)" "r.(?)" "" "" "" "" "" "-" "0000021527" "00001146" "00" "1181" "0" "1181" "0" "c.1181G>T" "" "p.(Gly394Val)" "r.(?)" "" "" "" "" "" "-" "0000021528" "00001144" "00" "1525" "0" "1526" "0" "c.1525_1526insC" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021528" "00001145" "00" "1453" "0" "1454" "0" "c.1453_1454insC" "" "p.(Tyr486Leufs*37)" "r.(?)" "" "" "" "" "" "-" "0000021528" "00001146" "00" "1183" "0" "1184" "0" "c.1183_1184insC" "" "p.(Tyr396Leufs*37)" "r.(?)" "" "" "" "" "" "-" "0000021529" "00001144" "00" "1530" "0" "1530" "0" "c.1530C>G" "" "" "" "" "" "" "" "" "-" "0000021529" "00001145" "00" "1458" "0" "1458" "0" "c.1458C>G" "" "p.(Tyr486*)" "r.(?)" "" "" "" "" "" "-" "0000021529" "00001146" "00" "1188" "0" "1188" "0" "c.1188C>G" "" "p.(Tyr396*)" "r.(?)" "" "" "" "" "" "-" "0000021530" "00001144" "00" "1534" "0" "1534" "0" "c.1534C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021530" "00001145" "00" "1462" "0" "1462" "0" "c.1462C>T" "" "p.(Arg488Cys)" "r.(?)" "" "" "" "" "" "-" "0000021530" "00001146" "00" "1192" "0" "1192" "0" "c.1192C>T" "" "p.(Arg398Cys)" "r.(?)" "" "" "" "" "" "-" "0000021531" "00001144" "00" "1535" "0" "1535" "0" "c.1535G>A" "" "" "" "" "" "" "" "" "-" "0000021531" "00001145" "00" "1463" "0" "1463" "0" "c.1463G>A" "" "p.(Arg488His)" "r.(?)" "" "" "" "" "" "-" "0000021531" "00001146" "00" "1193" "0" "1193" "0" "c.1193G>A" "" "p.(Arg398His)" "r.(?)" "" "" "" "" "" "-" "0000021532" "00001144" "00" "1587" "0" "1587" "0" "c.1587C>T" "" "" "" "" "" "" "" "" "-" "0000021532" "00001145" "00" "1515" "0" "1515" "0" "c.1515C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021532" "00001146" "00" "1245" "0" "1245" "0" "c.1245C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021533" "00001144" "00" "1616" "0" "1616" "0" "c.1616del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021533" "00001145" "00" "1544" "0" "1544" "0" "c.1544del" "" "p.(Pro516Hisfs*10)" "r.(?)" "" "" "" "" "" "-" "0000021533" "00001146" "00" "1274" "0" "1274" "0" "c.1274del" "" "p.(Pro426Hisfs*10)" "r.(?)" "" "" "" "" "" "-" "0000021534" "00001144" "00" "1627" "0" "1628" "0" "c.1627_1628insACAC" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021534" "00001145" "00" "1555" "0" "1556" "0" "c.1555_1556insACAC" "" "p.(Ile521Hisfs*3)" "r.(?)" "" "" "" "" "" "-" "0000021534" "00001146" "00" "1285" "0" "1286" "0" "c.1285_1286insACAC" "" "p.(Ile431Hisfs*3)" "r.(?)" "" "" "" "" "" "-" "0000021535" "00001144" "00" "1650" "0" "1650" "0" "c.1650A>G" "" "" "" "" "" "" "" "" "-" "0000021535" "00001145" "00" "1578" "0" "1578" "0" "c.1578A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021535" "00001146" "00" "1308" "0" "1308" "0" "c.1308A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021536" "00001144" "00" "1651" "0" "1651" "0" "c.1651G>C" "" "" "" "" "" "" "" "" "-" "0000021536" "00001145" "00" "1579" "0" "1579" "0" "c.1579G>C" "" "p.(Val527Leu)" "r.(?)" "" "" "" "" "" "-" "0000021536" "00001146" "00" "1309" "0" "1309" "0" "c.1309G>C" "" "p.(Val437Leu)" "r.(?)" "" "" "" "" "" "-" "0000021537" "00001144" "00" "1658" "0" "1658" "0" "c.1658G>T" "" "" "" "" "" "" "" "" "-" "0000021537" "00001145" "00" "1586" "0" "1586" "0" "c.1586G>T" "" "p.(Gly529Val)" "r.(?)" "" "" "" "" "" "-" "0000021537" "00001146" "00" "1316" "0" "1316" "0" "c.1316G>T" "" "p.(Gly439Val)" "r.(?)" "" "" "" "" "" "-" "0000021538" "00001144" "00" "1658" "1" "1658" "1" "c.1658+1G>T" "" "" "" "" "" "" "" "" "-" "0000021538" "00001145" "00" "1586" "1" "1586" "1" "c.1586+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021538" "00001146" "00" "1316" "1" "1316" "1" "c.1316+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021539" "00001144" "00" "1658" "9" "1658" "9" "c.1658+9A>C" "" "" "" "" "" "" "" "" "-" "0000021539" "00001145" "00" "1586" "9" "1586" "9" "c.1586+9A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021539" "00001146" "00" "1316" "9" "1316" "9" "c.1316+9A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021540" "00001144" "00" "1659" "-38" "1659" "-38" "c.1659-38A>C" "" "" "" "" "" "" "" "" "-" "0000021540" "00001145" "00" "1587" "-38" "1587" "-38" "c.1587-38A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021540" "00001146" "00" "1317" "-38" "1317" "-38" "c.1317-38A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021541" "00001144" "00" "1659" "-11" "1659" "-11" "c.1659-11T>G" "" "" "" "" "" "" "" "" "-" "0000021541" "00001145" "00" "1587" "-11" "1587" "-11" "c.1587-11T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021541" "00001146" "00" "1317" "-11" "1317" "-11" "c.1317-11T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021542" "00001144" "00" "1659" "-2" "1659" "-2" "c.1659-2A>G" "" "" "" "" "" "" "" "" "-" "0000021542" "00001145" "00" "1587" "-2" "1587" "-2" "c.1587-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021542" "00001146" "00" "1317" "-2" "1317" "-2" "c.1317-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021543" "00001144" "00" "1659" "-1" "1659" "-1" "c.1659-1G>C" "" "" "" "" "" "" "" "" "-" "0000021543" "00001145" "00" "1587" "-1" "1587" "-1" "c.1587-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021543" "00001146" "00" "1317" "-1" "1317" "-1" "c.1317-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000021544" "00001144" "00" "1662" "0" "1662" "0" "c.1662G>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021544" "00001145" "00" "1590" "0" "1590" "0" "c.1590G>T" "" "p.(Met530Ile)" "r.(?)" "" "" "" "" "" "-" "0000021544" "00001146" "00" "1320" "0" "1320" "0" "c.1320G>T" "" "p.(Met440Ile)" "r.(?)" "" "" "" "" "" "-" "0000021545" "00001144" "00" "1715" "0" "1715" "0" "c.1715G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021545" "00001145" "00" "1643" "0" "1643" "0" "c.1643G>A" "" "p.(Arg548Lys)" "r.(?)" "" "" "" "" "" "-" "0000021545" "00001146" "00" "1373" "0" "1373" "0" "c.1373G>A" "" "p.(Arg458Lys)" "r.(?)" "" "" "" "" "" "-" "0000021546" "00001144" "00" "1717" "0" "1717" "0" "c.1717C>T" "" "" "" "" "" "" "" "" "-" "0000021546" "00001145" "00" "1645" "0" "1645" "0" "c.1645C>T" "" "p.(Pro549Ser)" "r.(?)" "" "" "" "" "" "-" "0000021546" "00001146" "00" "1375" "0" "1375" "0" "c.1375C>T" "" "p.(Pro459Ser)" "r.(?)" "" "" "" "" "" "-" "0000021547" "00001144" "00" "1751" "0" "1751" "0" "c.*5G>A" "" "" "" "" "" "" "" "" "-" "0000021547" "00001145" "00" "1679" "0" "1679" "0" "c.*5G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021547" "00001146" "00" "1409" "0" "1409" "0" "c.*5G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021548" "00001144" "00" "1793" "0" "1793" "0" "c.*47C>T" "" "" "" "" "" "" "" "" "-" "0000021548" "00001145" "00" "1721" "0" "1721" "0" "c.*47C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021548" "00001146" "00" "1451" "0" "1451" "0" "c.*47C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021549" "00001144" "00" "1835" "0" "1835" "0" "c.*89del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021549" "00001145" "00" "1763" "0" "1763" "0" "c.*89del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021549" "00001146" "00" "1493" "0" "1493" "0" "c.*89del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021550" "00001144" "00" "1941" "0" "1941" "0" "c.*195G>T" "" "" "" "" "" "" "" "" "-" "0000021550" "00001145" "00" "1869" "0" "1869" "0" "c.*195G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021550" "00001146" "00" "1599" "0" "1599" "0" "c.*195G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021551" "00001144" "00" "2163" "0" "2163" "0" "c.*417T>A" "" "" "" "" "" "" "" "" "-" "0000021551" "00001145" "00" "2091" "0" "2091" "0" "c.*417T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021551" "00001146" "00" "1821" "0" "1821" "0" "c.*417T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021552" "00001144" "00" "2170" "0" "2170" "0" "c.*424T>C" "" "" "" "" "" "" "" "" "-" "0000021552" "00001145" "00" "2098" "0" "2098" "0" "c.*424T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021552" "00001146" "00" "1828" "0" "1828" "0" "c.*424T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021553" "00001144" "00" "2230" "0" "2230" "0" "c.*484G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021553" "00001145" "00" "2158" "0" "2158" "0" "c.*484G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021553" "00001146" "00" "1888" "0" "1888" "0" "c.*484G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021554" "00001144" "00" "2400" "0" "2400" "0" "c.*654G>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021554" "00001145" "00" "2328" "0" "2328" "0" "c.*654G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021554" "00001146" "00" "2058" "0" "2058" "0" "c.*654G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021555" "00001144" "00" "2424" "0" "2424" "0" "c.*678G>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021555" "00001145" "00" "2352" "0" "2352" "0" "c.*678G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021555" "00001146" "00" "2082" "0" "2082" "0" "c.*678G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021556" "00001144" "00" "2589" "0" "2589" "0" "c.*843T>C" "" "" "" "" "" "" "" "" "-" "0000021556" "00001145" "00" "2517" "0" "2517" "0" "c.*843T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021556" "00001146" "00" "2247" "0" "2247" "0" "c.*843T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021557" "00001144" "00" "2702" "0" "2703" "0" "c.*956_*957insA" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021557" "00001145" "00" "2630" "0" "2631" "0" "c.*956_*957insA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021557" "00001146" "00" "2360" "0" "2361" "0" "c.*956_*957insA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021558" "00001144" "00" "2702" "0" "2703" "0" "c.*956_*957insTA" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021558" "00001145" "00" "2630" "0" "2631" "0" "c.*956_*957insTA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021558" "00001146" "00" "2360" "0" "2361" "0" "c.*956_*957insTA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021559" "00001144" "00" "2703" "0" "2703" "0" "c.*957A>T" "" "" "" "" "" "" "" "" "-" "0000021559" "00001145" "00" "2631" "0" "2631" "0" "c.*957A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021559" "00001146" "00" "2361" "0" "2361" "0" "c.*957A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021560" "00001144" "00" "2705" "0" "2706" "0" "c.*959_*960insC" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021560" "00001145" "00" "2633" "0" "2634" "0" "c.*959_*960insC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021560" "00001146" "00" "2363" "0" "2364" "0" "c.*959_*960insC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021561" "00001144" "00" "2766" "0" "2766" "0" "c.*1020C>G" "" "" "" "" "" "" "" "" "-" "0000021561" "00001145" "00" "2694" "0" "2694" "0" "c.*1020C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021561" "00001146" "00" "2424" "0" "2424" "0" "c.*1020C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021562" "00001144" "00" "2808" "0" "2808" "0" "c.*1062G>A" "" "" "" "" "" "" "" "" "-" "0000021562" "00001145" "00" "2736" "0" "2736" "0" "c.*1062G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021562" "00001146" "00" "2466" "0" "2466" "0" "c.*1062G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021563" "00001144" "00" "2925" "0" "2925" "0" "c.*1179G>T" "" "" "" "" "" "" "" "" "-" "0000021563" "00001145" "00" "2853" "0" "2853" "0" "c.*1179G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021563" "00001146" "00" "2583" "0" "2583" "0" "c.*1179G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021564" "00001144" "00" "2960" "0" "2960" "0" "c.*1214G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021564" "00001145" "00" "2888" "0" "2888" "0" "c.*1214G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021564" "00001146" "00" "2618" "0" "2618" "0" "c.*1214G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021565" "00001144" "00" "2990" "0" "2990" "0" "c.*1244C>T" "" "" "" "" "" "" "" "" "-" "0000021565" "00001145" "00" "2918" "0" "2918" "0" "c.*1244C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021565" "00001146" "00" "2648" "0" "2648" "0" "c.*1244C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026342" "00001144" "00" "-131" "0" "-131" "0" "c.-131A>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026342" "00001145" "00" "-131" "0" "-131" "0" "c.-131A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026342" "00001146" "00" "-82" "-449" "-82" "-449" "c.-531A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026343" "00001144" "00" "-130" "0" "-103" "0" "c.-130_-103del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026343" "00001145" "00" "-130" "0" "-103" "0" "c.-130_-103del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026343" "00001146" "00" "-82" "-448" "-82" "-421" "c.-530_-503del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026344" "00001144" "00" "1" "0" "1" "0" "c.1A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026344" "00001145" "00" "1" "0" "1" "0" "c.1A>G" "" "p.?" "r.?" "" "" "" "" "" "-" "0000026344" "00001146" "00" "-82" "-318" "-82" "-318" "c.-400A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026345" "00001144" "00" "1" "0" "1" "0" "c.1A>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026345" "00001145" "00" "1" "0" "1" "0" "c.1A>T" "" "p.?" "r.?" "" "" "" "" "" "-" "0000026345" "00001146" "00" "-82" "-318" "-82" "-318" "c.-400A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026346" "00001144" "00" "2" "0" "2" "0" "c.2T>G" "" "" "" "" "" "" "" "" "-" "0000026346" "00001145" "00" "2" "0" "2" "0" "c.2T>G" "" "p.?" "r.?" "" "" "" "" "" "-" "0000026346" "00001146" "00" "-82" "-317" "-82" "-317" "c.-399T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026347" "00001144" "00" "13" "0" "13" "0" "c.13del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026347" "00001145" "00" "13" "0" "13" "0" "c.13del" "" "p.(Asp5Thrfs*3)" "r.(?)" "" "" "" "" "" "-" "0000026347" "00001146" "00" "-82" "-306" "-82" "-306" "c.-388del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026348" "00001144" "00" "39" "0" "39" "0" "c.39G>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026348" "00001145" "00" "39" "0" "39" "0" "c.39G>C" "" "p.(Glu13Asp)" "r.(?)" "" "" "" "" "" "-" "0000026348" "00001146" "00" "-82" "-280" "-82" "-280" "c.-362G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026349" "00001144" "00" "40" "0" "41" "0" "c.40_41insGGG" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026349" "00001145" "00" "40" "0" "41" "0" "c.40_41insGGG" "" "p.(Gly15dup)" "r.(?)" "" "" "" "" "" "-" "0000026349" "00001146" "00" "-82" "-279" "-82" "-278" "c.-361_-360insGGG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026350" "00001144" "00" "40" "0" "40" "0" "c.40T>A" "" "" "" "" "" "" "" "" "-" "0000026350" "00001145" "00" "40" "0" "40" "0" "c.40T>A" "" "p.(Trp14Arg)" "r.(?)" "" "" "" "" "" "-" "0000026350" "00001146" "00" "-82" "-279" "-82" "-279" "c.-361T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026351" "00001144" "00" "51" "0" "51" "0" "c.51del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026351" "00001145" "00" "51" "0" "51" "0" "c.51del" "" "p.(Gln18Serfs*25)" "r.(?)" "" "" "" "" "" "-" "0000026351" "00001146" "00" "-82" "-268" "-82" "-268" "c.-350del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026352" "00001144" "00" "71" "0" "71" "0" "c.71del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026352" "00001145" "00" "71" "0" "71" "0" "c.71del" "" "p.(Leu24Argfs*19)" "r.(?)" "" "" "" "" "" "-" "0000026352" "00001146" "00" "-82" "-248" "-82" "-248" "c.-330del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026353" "00001144" "00" "119" "0" "119" "0" "c.119T>A" "" "" "" "" "" "" "" "" "-" "0000026353" "00001145" "00" "119" "0" "119" "0" "c.119T>A" "" "p.(Val40Glu)" "r.(?)" "" "" "" "" "" "-" "0000026353" "00001146" "00" "-82" "-200" "-82" "-200" "c.-282T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026354" "00001144" "00" "122" "0" "122" "0" "c.122T>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026354" "00001145" "00" "122" "0" "122" "0" "c.122T>G" "" "p.(Phe41Cys)" "r.(?)" "" "" "" "" "" "-" "0000026354" "00001146" "00" "-82" "-197" "-82" "-197" "c.-279T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026355" "00001144" "00" "131" "0" "131" "0" "c.131C>T" "" "" "" "" "" "" "" "" "-" "0000026355" "00001145" "00" "131" "0" "131" "0" "c.131C>T" "" "p.(Ala44Val)" "r.(?)" "" "" "" "" "" "-" "0000026355" "00001146" "00" "-82" "-188" "-82" "-188" "c.-270C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026356" "00001144" "00" "134" "0" "134" "0" "c.134del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026356" "00001145" "00" "134" "0" "134" "0" "c.134del" "" "p.(Pro46Argfs*13)" "r.(?)" "" "" "" "" "" "-" "0000026356" "00001146" "00" "-82" "-185" "-82" "-185" "c.-267del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026357" "00001144" "00" "185" "0" "185" "0" "c.185G>A" "" "" "" "" "" "" "" "" "-" "0000026357" "00001145" "00" "185" "0" "185" "0" "c.185G>A" "" "p.(Trp62*)" "r.(?)" "" "" "" "" "" "-" "0000026357" "00001146" "00" "-82" "-134" "-82" "-134" "c.-216G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026358" "00001144" "00" "242" "0" "242" "0" "c.242G>A" "" "" "" "" "" "" "" "" "-" "0000026358" "00001145" "00" "242" "0" "242" "0" "c.242G>A" "" "p.(Cys81Tyr)" "r.(?)" "" "" "" "" "" "-" "0000026358" "00001146" "00" "-82" "-77" "-82" "-77" "c.-159G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026359" "00001144" "00" "247" "0" "247" "0" "c.247C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026359" "00001145" "00" "247" "0" "247" "0" "c.247C>T" "" "p.(Arg83Cys)" "r.(?)" "" "" "" "" "" "-" "0000026359" "00001146" "00" "-82" "-72" "-82" "-72" "c.-154C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026360" "00001144" "00" "250" "0" "251" "0" "c.250_251insACCGGCTCGCCACC" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026360" "00001145" "00" "250" "0" "251" "0" "c.250_251insACCGGCTCGCCACC" "" "p.(Ile89Thrfs*46)" "r.(?)" "" "" "" "" "" "-" "0000026360" "00001146" "00" "-82" "-69" "-82" "-68" "c.-151_-150insACCGGCTCGCCACC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026361" "00001144" "00" "252" "0" "252" "0" "c.252C>G" "" "" "" "" "" "" "" "" "-" "0000026361" "00001145" "00" "252" "0" "252" "0" "c.252C>G" "" "p.(Tyr84*)" "r.(?)" "" "" "" "" "" "-" "0000026361" "00001146" "00" "-82" "-67" "-82" "-67" "c.-149C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026362" "00001144" "00" "265" "0" "265" "0" "c.265A>G" "" "" "" "" "" "" "" "" "-" "0000026362" "00001145" "00" "265" "0" "265" "0" "c.265A>G" "" "p.(Ile89Val)" "r.(?)" "" "" "" "" "" "-" "0000026362" "00001146" "00" "-82" "-54" "-82" "-54" "c.-136A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026363" "00001144" "00" "391" "0" "391" "0" "c.391G>T" "" "" "" "" "" "" "" "" "-" "0000026363" "00001145" "00" "391" "0" "391" "0" "c.391G>T" "" "p.(Glu131*)" "r.(?)" "" "" "" "" "" "-" "0000026363" "00001146" "00" "-10" "0" "-10" "0" "c.-10G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026364" "00001144" "00" "393" "5" "393" "5" "c.393+5G>A" "" "" "" "" "" "" "" "" "-" "0000026364" "00001145" "00" "393" "5" "393" "5" "c.393+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026364" "00001146" "00" "-8" "5" "-8" "5" "c.-8+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026365" "00001144" "00" "465" "2" "465" "2" "c.465+2T>C" "" "" "" "" "" "" "" "" "-" "0000026365" "00001145" "00" "394" "-141" "394" "-141" "c.394-141T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026365" "00001146" "00" "123" "2" "123" "2" "c.123+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026366" "00001144" "00" "484" "0" "486" "0" "c.484_486del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026366" "00001145" "00" "412" "0" "414" "0" "c.412_414del" "" "p.(Asp139del)" "r.(?)" "" "" "" "" "" "-" "0000026366" "00001146" "00" "142" "0" "144" "0" "c.142_144del" "" "p.(Asp49del)" "r.(?)" "" "" "" "" "" "-" "0000026367" "00001144" "00" "487" "0" "487" "0" "c.487G>A" "" "" "" "" "" "" "" "" "-" "0000026367" "00001145" "00" "415" "0" "415" "0" "c.415G>A" "" "p.(Asp139Asn)" "r.(?)" "" "" "" "" "" "-" "0000026367" "00001146" "00" "145" "0" "145" "0" "c.145G>A" "" "p.(Asp49Asn)" "r.(?)" "" "" "" "" "" "-" "0000026368" "00001144" "00" "500" "0" "500" "0" "c.500C>T" "" "" "" "" "" "" "" "" "-" "0000026368" "00001145" "00" "428" "0" "428" "0" "c.428C>T" "" "p.(Pro143Leu)" "r.(?)" "" "" "" "" "" "-" "0000026368" "00001146" "00" "158" "0" "158" "0" "c.158C>T" "" "p.(Pro53Leu)" "r.(?)" "" "" "" "" "" "-" "0000026369" "00001144" "00" "519" "0" "519" "0" "c.519C>G" "" "" "" "" "" "" "" "" "-" "0000026369" "00001145" "00" "447" "0" "447" "0" "c.447C>G" "" "p.(Phe149Leu)" "r.(?)" "" "" "" "" "" "-" "0000026369" "00001146" "00" "177" "0" "177" "0" "c.177C>G" "" "p.(Phe59Leu)" "r.(?)" "" "" "" "" "" "-" "0000026370" "00001144" "00" "601" "0" "601" "0" "c.601A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026370" "00001145" "00" "529" "0" "529" "0" "c.529A>G" "" "" "" "" "" "" "" "" "-" "0000026370" "00001146" "00" "259" "0" "259" "0" "c.259A>G" "" "p.(Met87Val)" "r.(?)" "" "" "" "" "" "-" "0000026371" "00001144" "00" "610" "0" "610" "0" "c.610C>G" "" "" "" "" "" "" "" "" "-" "0000026371" "00001145" "00" "538" "0" "538" "0" "c.538C>G" "" "p.(Gln180Glu)" "r.(?)" "" "" "" "" "" "-" "0000026371" "00001146" "00" "268" "0" "268" "0" "c.268C>G" "" "p.(Gln90Glu)" "r.(?)" "" "" "" "" "" "-" "0000026372" "00001144" "00" "686" "0" "686" "0" "c.686T>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026372" "00001145" "00" "614" "0" "614" "0" "c.614T>A" "" "p.(Met205Lys)" "r.(?)" "" "" "" "" "" "-" "0000026372" "00001146" "00" "344" "0" "344" "0" "c.344T>A" "" "p.(Met115Lys)" "r.(?)" "" "" "" "" "" "-" "0000026373" "00001144" "00" "723" "0" "724" "0" "c.723_724insGTATGGCCATCAGGTTGGA" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026373" "00001145" "00" "651" "0" "652" "0" "c.651_652insGTATGGCCATCAGGTTGGA" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026373" "00001146" "00" "381" "0" "382" "0" "c.381_382insGTATGGCCATCAGGTTGGA" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026374" "00001144" "00" "758" "0" "760" "0" "c.758_760del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026374" "00001145" "00" "686" "0" "688" "0" "c.686_688del" "" "p.(Phe230del)" "r.(?)" "" "" "" "" "" "-" "0000026374" "00001146" "00" "416" "0" "418" "0" "c.416_418del" "" "p.(Phe140del)" "r.(?)" "" "" "" "" "" "-" "0000026375" "00001144" "00" "764" "0" "764" "0" "c.764C>G" "" "" "" "" "" "" "" "" "-" "0000026375" "00001145" "00" "692" "0" "692" "0" "c.692C>G" "" "p.(Ser231Cys)" "r.(?)" "" "" "" "" "" "-" "0000026375" "00001146" "00" "422" "0" "422" "0" "c.422C>G" "" "p.(Ser141Cys)" "r.(?)" "" "" "" "" "" "-" "0000026376" "00001144" "00" "778" "0" "778" "0" "c.778T>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026376" "00001145" "00" "706" "0" "706" "0" "c.706T>C" "" "p.(Cys236Arg)" "r.(?)" "" "" "" "" "" "-" "0000026376" "00001146" "00" "436" "0" "436" "0" "c.436T>C" "" "p.(Cys146Arg)" "r.(?)" "" "" "" "" "" "-" "0000026377" "00001144" "00" "872" "0" "872" "0" "c.872G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026377" "00001145" "00" "800" "0" "800" "0" "c.800G>A" "" "p.(Gly267Glu)" "r.(?)" "" "" "" "" "" "-" "0000026377" "00001146" "00" "530" "0" "530" "0" "c.530G>A" "" "p.(Gly177Glu)" "r.(?)" "" "" "" "" "" "-" "0000026378" "00001144" "00" "883" "0" "883" "0" "c.883G>A" "" "" "" "" "" "" "" "" "-" "0000026378" "00001145" "00" "811" "0" "811" "0" "c.811G>A" "" "p.(Val271Met)" "r.(?)" "" "" "" "" "" "-" "0000026378" "00001146" "00" "541" "0" "541" "0" "c.541G>A" "" "p.(Val181Met)" "r.(?)" "" "" "" "" "" "-" "0000026379" "00001144" "00" "935" "0" "937" "0" "c.935_937del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026379" "00001145" "00" "863" "0" "865" "0" "c.863_865del" "" "p.(Arg289del)" "r.(?)" "" "" "" "" "" "-" "0000026379" "00001146" "00" "593" "0" "595" "0" "c.593_595del" "" "p.(Arg199del)" "r.(?)" "" "" "" "" "" "-" "0000026380" "00001144" "00" "947" "0" "947" "0" "c.947A>T" "" "" "" "" "" "" "" "" "-" "0000026380" "00001145" "00" "875" "0" "875" "0" "c.875A>T" "" "p.(Glu292Val)" "r.(?)" "" "" "" "" "" "-" "0000026380" "00001146" "00" "605" "0" "605" "0" "c.605A>T" "" "p.(Glu202Val)" "r.(?)" "" "" "" "" "" "-" "0000026381" "00001144" "00" "964" "0" "964" "0" "c.964C>T" "" "" "" "" "" "" "" "" "-" "0000026381" "00001145" "00" "892" "0" "892" "0" "c.892C>T" "" "p.(Arg298Cys)" "r.(?)" "" "" "" "" "" "-" "0000026381" "00001146" "00" "622" "0" "622" "0" "c.622C>T" "" "p.(Arg208Cys)" "r.(?)" "" "" "" "" "" "-" "0000026382" "00001144" "00" "1024" "-2" "1024" "-2" "c.1024-2A>G" "" "" "" "" "" "" "" "" "-" "0000026382" "00001145" "00" "952" "-2" "952" "-2" "c.952-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026382" "00001146" "00" "682" "-2" "682" "-2" "c.682-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026383" "00001144" "00" "1039" "0" "1039" "0" "c.1039T>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026383" "00001145" "00" "967" "0" "967" "0" "c.967T>C" "" "p.(Ser323Pro)" "r.(?)" "" "" "" "" "" "-" "0000026383" "00001146" "00" "697" "0" "697" "0" "c.697T>C" "" "p.(Ser233Pro)" "r.(?)" "" "" "" "" "" "-" "0000026384" "00001144" "00" "1060" "0" "1086" "0" "c.1060_1086del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026384" "00001145" "00" "988" "0" "1014" "0" "c.988_1014del" "" "p.(Leu332_Ile340del)" "r.(?)" "" "" "" "" "" "-" "0000026384" "00001146" "00" "718" "0" "744" "0" "c.718_744del" "" "p.(Leu242_Ile250del)" "r.(?)" "" "" "" "" "" "-" "0000026385" "00001144" "00" "1108" "0" "1108" "0" "c.1108A>G" "" "" "" "" "" "" "" "" "-" "0000026385" "00001145" "00" "1036" "0" "1036" "0" "c.1036A>G" "" "p.(Met346Val)" "r.(?)" "" "" "" "" "" "-" "0000026385" "00001146" "00" "766" "0" "766" "0" "c.766A>G" "" "p.(Met256Val)" "r.(?)" "" "" "" "" "" "-" "0000026386" "00001144" "00" "1124" "1" "1124" "1" "c.1124+1G>T" "" "" "" "" "" "" "" "" "-" "0000026386" "00001145" "00" "1052" "1" "1052" "1" "c.1052+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026386" "00001146" "00" "782" "1" "782" "1" "c.782+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026387" "00001144" "00" "1124" "5" "1124" "5" "c.1124+5G>A" "" "" "" "" "" "" "" "" "-" "0000026387" "00001145" "00" "1052" "5" "1052" "5" "c.1052+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026387" "00001146" "00" "782" "5" "782" "5" "c.782+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026388" "00001144" "00" "1147" "0" "1148" "0" "c.1147_1148insTTGGGC" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026388" "00001145" "00" "1075" "0" "1076" "0" "c.1075_1076insTTGGGC" "" "" "" "" "" "" "" "" "-" "0000026388" "00001146" "00" "805" "0" "806" "0" "c.805_806insTTGGGC" "" "p.(Gly270_Leu271dup)" "r.(?)" "" "" "" "" "" "-" "0000026389" "00001144" "00" "1211" "0" "1211" "0" "c.1211C>T" "" "" "" "" "" "" "" "" "-" "0000026389" "00001145" "00" "1139" "0" "1139" "0" "c.1139C>T" "" "p.(Ala380Val)" "r.(?)" "" "" "" "" "" "-" "0000026389" "00001146" "00" "869" "0" "869" "0" "c.869C>T" "" "p.(Ala290Val)" "r.(?)" "" "" "" "" "" "-" "0000026390" "00001144" "00" "1327" "0" "1327" "0" "c.1327C>G" "" "" "" "" "" "" "" "" "-" "0000026390" "00001145" "00" "1255" "0" "1255" "0" "c.1255C>G" "" "p.(Leu419Val)" "r.(?)" "" "" "" "" "" "-" "0000026390" "00001146" "00" "985" "0" "985" "0" "c.985C>G" "" "p.(Leu329Val)" "r.(?)" "" "" "" "" "" "-" "0000026391" "00001144" "00" "1339" "0" "1339" "21" "c.1339_1339+21del" "" "" "" "" "" "" "" "" "-" "0000026391" "00001145" "00" "1267" "0" "1267" "21" "c.1267_1267+21del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026391" "00001146" "00" "997" "0" "997" "21" "c.997_997+21del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026392" "00001144" "00" "1339" "1" "1339" "1" "c.1339+1G>A" "" "" "" "" "" "" "" "" "-" "0000026392" "00001145" "00" "1267" "1" "1267" "1" "c.1267+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026392" "00001146" "00" "997" "1" "997" "1" "c.997+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026393" "00001144" "00" "1525" "0" "1525" "0" "c.1525G>A" "" "" "" "" "" "" "" "" "-" "0000026393" "00001145" "00" "1453" "0" "1453" "0" "c.1453G>A" "" "p.(Ala485Thr)" "r.(?)" "" "" "" "" "" "-" "0000026393" "00001146" "00" "1183" "0" "1183" "0" "c.1183G>A" "" "p.(Ala395Thr)" "r.(?)" "" "" "" "" "" "-" "0000026394" "00001144" "00" "1530" "0" "1530" "0" "c.1530C>A" "" "" "" "" "" "" "" "" "-" "0000026394" "00001145" "00" "1458" "0" "1458" "0" "c.1458C>A" "" "p.(Tyr486*)" "r.(?)" "" "" "" "" "" "-" "0000026394" "00001146" "00" "1188" "0" "1188" "0" "c.1188C>A" "" "p.(Tyr396*)" "r.(?)" "" "" "" "" "" "-" "0000026395" "00001144" "00" "1626" "0" "1626" "0" "c.1626del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026395" "00001145" "00" "1554" "0" "1554" "0" "c.1554del" "" "p.(Asp519Thrfs*7)" "r.(?)" "" "" "" "" "" "-" "0000026395" "00001146" "00" "1284" "0" "1284" "0" "c.1284del" "" "p.(Asp429Thrfs*7)" "r.(?)" "" "" "" "" "" "-" "0000026396" "00001144" "00" "1732" "0" "1732" "0" "c.1732A>G" "" "" "" "" "" "" "" "" "-" "0000026396" "00001145" "00" "1660" "0" "1660" "0" "c.1660A>G" "" "p.(Ser554Gly)" "r.(?)" "" "" "" "" "" "-" "0000026396" "00001146" "00" "1390" "0" "1390" "0" "c.1390A>G" "" "p.(Ser464Gly)" "r.(?)" "" "" "" "" "" "-" "0000026397" "00001144" "00" "1746" "0" "1746" "0" "c.1746A>C" "" "" "" "" "" "" "" "" "-" "0000026397" "00001145" "00" "1674" "0" "1674" "0" "c.1674A>C" "" "p.(*558Tyrext*5)" "r.(?)" "" "" "" "" "" "-" "0000026397" "00001146" "00" "1404" "0" "1404" "0" "c.1404A>C" "" "p.(*468Tyrext*5)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0