### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CPT1A) # 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}}" "CPT1A" "carnitine palmitoyltransferase 1A (liver)" "11" "q13.2" "unknown" "NC_000011.9" "UD_138431374910" "" "" "" "1" "1" "2328" "1374" "600528" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "{{chrom}}" "00000660" "CPT1A" "transcript variant 2" "001" "NM_001031847.2" "" "NP_001027017.1" "" "" "" "-170" "2467" "2271" "68609399" "68522088" "00001" "2013-11-12 21:35:57" "" "" "" "11" "00000661" "CPT1A" "transcript variant X2" "002" "XM_005273763.1" "" "XP_005273820.1" "" "" "" "-50" "2563" "2367" "68607152" "68522088" "00001" "2013-11-12 21:35:57" "" "" "" "11" "00000662" "CPT1A" "transcript variant 1" "003" "NM_001876.3" "" "NP_001867.2" "" "" "" "-170" "5083" "2322" "68609399" "68522351" "00001" "2013-11-12 21:35:57" "" "" "" "11" "00000663" "CPT1A" "transcript variant X3" "004" "XM_005273764.1" "" "XP_005273821.1" "" "" "" "-279" "4255" "2322" "68611878" "68523179" "00001" "2013-11-12 21:35:57" "" "" "" "11" "00000664" "CPT1A" "transcript variant X1" "005" "XM_005273762.1" "" "XP_005273819.1" "" "" "" "-50" "4351" "2418" "68607152" "68523179" "00001" "2013-11-12 21:35:57" "" "" "" "11" ## 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}}" "00440" "255120" "CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY" "255120" "" "" "" "00001" "2014-04-10 15:30:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CPT1A" "00440" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 101 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000000326" "0" "99" "11" "68527116" "68527116" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-10-28 20:31:37" "CPT1A_000028" "g.68527116C>T" "" "{PMID:20301700:20301700}" "" "rs397515544" "subst" "0" "; clinvar; ensembl;" "4.750" "" "" "" "" "MSCV_0000326" "" "0000000327" "0" "99" "11" "68527706" "68527706" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-05-27 05:11:23" "CPT1A_000029" "g.68527706C>T" "" "{PMID:11350182:11350182};{PMID:20301700:20301700}" "" "rs80356780" "subst" "0" "; clinvar; ensembl;" "4.790" "" "" "" "" "MSCV_0000327" "" "0000000328" "0" "99" "11" "68527709" "68527709" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-01-07 14:52:27" "CPT1A_000030" "g.68527709C>T" "" "{PMID:14517221:14517221};{PMID:9048718:9048718};{PMID:20301700:20301700}" "" "rs28936374" "subst" "0" "; clinvar; ensembl;" "4.790" "" "" "" "" "MSCV_0000328" "" "0000000329" "0" "77" "11" "68528997" "68529000" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-07-27 00:03:36" "CPT1A_000026" "g.68528997_68529000del" "" "{PMID:20301700:20301700};{PMID:12111367:12111367}" "" "rs80356799" "del" "0" "; ensembl;" "" "" "" "" "" "MSCV_0000329" "" "0000000330" "0" "99" "11" "68529156" "68529156" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:34" "CPT1A_000027" "g.68529156C>T" "" "{PMID:12189492:12189492};{PMID:20301700:20301700}" "" "rs80356798" "subst" "0" "; clinvar; ensembl;" "4.710" "" "" "" "" "MSCV_0000330" "" "0000000331" "0" "99" "11" "68540736" "68540736" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-06 20:59:13" "CPT1A_000019" "g.68540736G>T" "" "{PMID:20301700:20301700};{PMID:16146704:16146704}" "" "rs80356785" "subst" "0" "; clinvar; ensembl;" "3.890" "" "" "" "" "MSCV_0000331" "" "0000000332" "0" "99" "11" "68540873" "68540873" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-03-15 18:47:41" "CPT1A_000020" "g.68540873del" "" "{PMID:16146704:16146704};{PMID:20301700:20301700}" "" "rs80356801" "del" "0" "; clinvar; ensembl;" "3.830" "" "" "" "" "MSCV_0000332" "" "0000000333" "0" "99" "11" "68542700" "68542783" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:48:38" "CPT1A_000021" "g.68542700_68542783del" "" "{PMID:12189492:12189492};{PMID:20301700:20301700}" "" "rs80356802" "del" "0" "; clinvar; ensembl;" "" "" "" "" "" "MSCV_0000333" "" "0000000334" "0" "99" "11" "68542865" "68542865" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:48:39" "CPT1A_000022" "g.68542865A>C" "" "{PMID:14517221:14517221};{PMID:20301700:20301700}" "" "rs80356795" "subst" "0" "; clinvar; ensembl;" "-6.770" "" "" "" "" "MSCV_0000334" "" "0000000336" "0" "99" "11" "68542865" "68542865" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-01-07 14:42:58" "CPT1A_000023" "g.68542865A>T" "" "{PMID:14517221:14517221};{PMID:20301700:20301700}" "" "rs80356795" "subst" "0" "; clinvar; ensembl;" "-6.770" "" "" "" "" "MSCV_0000336" "" "0000000338" "0" "99" "11" "68542866" "68542866" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-04-10 02:12:13" "CPT1A_000024" "g.68542866T>C" "" "{PMID:12189492:12189492};{PMID:14517221:14517221};{PMID:20301700:20301700}" "" "rs80356791" "subst" "0" "; clinvar; ensembl;" "5.120" "" "" "" "" "MSCV_0000338" "" "0000000339" "0" "99" "11" "68548115" "68548115" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:48:42" "CPT1A_000025" "g.68548115A>G" "" "{PMID:11441142:11441142};{PMID:20301700:20301700}" "" "rs80356793" "subst" "0" "; clinvar; ensembl;" "4.330" "" "" "" "" "MSCV_0000339" "" "0000000340" "0" "99" "11" "68548130" "68548130" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:45:27" "CPT1A_000001" "g.68548130G>A" "" "{PMID:11441142:11441142};{PMID:20301700:20301700};{PMID:23757202:23757202}" "" "rs80356779" "subst" "0" "; clinvar; ensembl;" "5.460" "" "" "" "" "MSCV_0000340" "" "0000000341" "0" "99" "11" "68548141" "68548141" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-09-07 10:37:16" "CPT1A_000002" "g.68548141C>T" "" "{PMID:20301700:20301700}" "" "rs80356794" "subst" "0" "; clinvar; ensembl;" "5.190" "" "" "" "" "MSCV_0000341" "" "0000000342" "0" "99" "11" "68548173" "68548173" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-11-25 04:11:04" "CPT1A_000003" "g.68548173C>A" "" "{PMID:15110323:15110323};{PMID:20301700:20301700}" "" "rs80356784" "subst" "0" "; clinvar; ensembl;" "4.120" "" "" "" "" "MSCV_0000342" "" "0000000343" "0" "99" "11" "68548205" "68548205" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-04-04 05:47:33" "CPT1A_000004" "g.68548205T>C" "" "{PMID:9691089:9691089};{PMID:20301700:20301700}" "" "rs80356778" "subst" "0" "; clinvar; ensembl;" "5.040" "" "" "" "" "MSCV_0000343" "" "0000000344" "0" "99" "11" "68549252" "68549252" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:45:30" "CPT1A_000005" "g.68549252G>A" "" "{PMID:20301700:20301700}" "" "rs397515543" "subst" "0" "; clinvar; ensembl;" "-0.044" "" "" "" "" "MSCV_0000344" "" "0000000345" "0" "99" "11" "68549350" "68549350" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:45:31" "CPT1A_000006" "g.68549350G>A" "" "{PMID:12189492:12189492};{PMID:14517221:14517221};{PMID:20301700:20301700}" "" "rs80356790" "subst" "0" "; clinvar; ensembl;" "5.340" "" "" "" "" "MSCV_0000345" "" "0000000346" "0" "99" "11" "68552367" "68552367" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-06-09 06:57:27" "CPT1A_000007" "g.68552367T>C" "" "{PMID:12111367:12111367};{PMID:20301700:20301700}" "" "rs80356787" "subst" "0" "; clinvar; ensembl;" "5.060" "" "" "" "" "MSCV_0000346" "" "0000000347" "0" "99" "11" "68552377" "68552377" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-10-30 07:34:16" "CPT1A_000008" "g.68552377G>A" "" "{PMID:11441142:11441142};{PMID:20301700:20301700}" "" "rs80356777" "subst" "0" "; clinvar; ensembl;" "4.150" "" "" "" "" "MSCV_0000347" "" "0000000348" "0" "99" "11" "68552419" "68552419" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:45:33" "CPT1A_000009" "g.68552419A>C" "" "{PMID:20301700:20301700};{PMID:15110323:15110323}" "" "rs80356783" "subst" "0" "; clinvar; ensembl;" "4.970" "" "" "" "" "MSCV_0000348" "" "0000000349" "0" "99" "11" "68560802" "68560802" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:45:33" "CPT1A_000010" "g.68560802del" "" "{PMID:20301700:20301700};{PMID:14517221:14517221}" "" "rs80356800" "del" "0" "; clinvar; ensembl;" "-0.675" "" "" "" "" "MSCV_0000349" "" "0000000350" "0" "99" "11" "68560804" "68560804" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:45:34" "CPT1A_000011" "g.68560804G>C" "" "{PMID:15110323:15110323};{PMID:20301700:20301700}" "" "rs80356796" "subst" "0" "; clinvar; ensembl;" "3.230" "" "" "" "" "MSCV_0000350" "" "0000000351" "0" "99" "11" "68560809" "68560809" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:45:34" "CPT1A_000012" "g.68560809G>A" "" "{PMID:15669684:15669684};{PMID:20301700:20301700}" "" "rs80356776" "subst" "0" "; clinvar; ensembl;" "5.180" "" "" "" "" "MSCV_0000351" "" "0000000352" "0" "99" "11" "68560838" "68560838" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:45:35" "CPT1A_000013" "g.68560838G>C" "" "{PMID:11441142:11441142};{PMID:20301700:20301700}" "" "rs80356789" "subst" "0" "; clinvar; ensembl;" "4.160" "" "" "" "" "MSCV_0000352" "" "0000000353" "0" "99" "11" "68562328" "68562328" "subst" "51" "0.0557438" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 13:32:10" "CPT1A_000014" "g.68562328C>T" "" "{PMID:11441142:11441142};{PMID:20301700:20301700}" "" "rs2229738" "subst" "0" "; clinvar; ensembl;" "0.172" "" "" "" "" "MSCV_0000353" "" "0000000354" "0" "99" "11" "68571545" "68571545" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-01-07 14:33:08" "CPT1A_000015" "g.68571545G>A" "" "{PMID:15110323:15110323};{PMID:20301700:20301700}" "" "rs80356782" "subst" "0" "; clinvar; ensembl;" "4.160" "" "" "" "" "MSCV_0000354" "" "0000000355" "0" "99" "11" "68575021" "68575021" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:45:37" "CPT1A_000016" "g.68575021G>A" "" "{PMID:11441142:11441142};{PMID:23757202:23757202};{PMID:20301700:20301700}" "" "rs80356775" "subst" "0" "; clinvar; ensembl;" "3.980" "" "" "" "" "MSCV_0000355" "" "0000000356" "0" "99" "11" "68575090" "68575090" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:45:38" "CPT1A_000017" "g.68575090G>A" "" "{PMID:12189492:12189492};{PMID:23757202:23757202};{PMID:20301700:20301700}" "" "rs80356774" "subst" "0" "; clinvar; ensembl;" "4.980" "" "" "" "" "MSCV_0000356" "" "0000000357" "0" "99" "11" "68582847" "68582847" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:45:39" "CPT1A_000018" "g.68582847A>C" "" "{PMID:12111367:12111367};{PMID:20301700:20301700}" "" "rs80356786" "subst" "0" "; clinvar; ensembl;" "-0.852" "" "" "" "" "MSCV_0000357" "" "0000002042" "0" "55" "11" "68527728" "68527740" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2020-02-07 13:07:15" "CPT1A_000032" "g.68527728_68527740del" "" "{PMID:20301700:20301700};{PMID:12189492:12189492}" "" "rs80356797" "del" "0" "; Ensembl;" "" "" "" "" "" "MSCV_0002042" "" "0000002065" "0" "99" "11" "68562328" "68562328" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-23 13:32:10" "CPT1A_000031" "g.68562328C>G" "" "{PMID:11441142:11441142};{PMID:20301700:20301700}" "" "rs2229738" "subst" "0" "; clinvar; ensembl;" "0.172" "" "" "" "" "MSCV_0002065" "" "0000005230" "0" "00" "11" "68527728" "68527740" "del" "35" "0" "00000" "9" "00001" "2015-03-12 18:41:14" "00000" "2016-12-28 20:13:17" "CPT1A_000032" "g.68527728_68527740del" "" "{PMID:20301700:20301700};{PMID:12189492:12189492}" "" "rs80356797" "del" "0" "; ensembl;" "" "" "" "" "" "MSCV_0005230" "" "0000005242" "0" "99" "11" "68529001" "68529004" "del" "35" "0" "00000" "9" "00001" "2015-03-12 18:41:14" "00000" "2015-03-12 18:46:22" "CPT1A_000033" "g.68529001_68529004del" "" "{PMID:20301700:20301700};{PMID:12111367:12111367}" "" "rs80356799" "del" "0" "; ensembl;" "" "" "" "" "" "MSCV_0005242" "" "0000016587" "0" "99" "11" "68527116" "68527116" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:38:47" "CPT1A_000028" "g.68527116C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000326" "" "0000016588" "0" "99" "11" "68527706" "68527706" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:38:52" "CPT1A_000029" "g.68527706C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000327" "" "0000016589" "0" "99" "11" "68527709" "68527709" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-11-01 13:47:24" "CPT1A_000030" "g.68527709C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000328" "" "0000016590" "0" "77" "11" "68527764" "68527764" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:39:00" "CPT1A_000051" "g.68527764G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016590" "" "0000016591" "0" "00" "11" "68528997" "68529000" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:39:05" "CPT1A_000026" "g.68528997_68529000del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000329" "" "0000016592" "0" "77" "11" "68529033" "68529034" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:39:09" "CPT1A_000052" "g.68529033_68529034insTTTT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016592" "" "0000016593" "0" "77" "11" "68529156" "68529156" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-23 02:41:32" "CPT1A_000027" "g.68529156C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000330" "" "0000016594" "0" "99" "11" "68540736" "68540736" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:17:55" "CPT1A_000019" "g.68540736G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000331" "" "0000016595" "0" "77" "11" "68540762" "68540762" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:17:59" "CPT1A_000045" "g.68540762G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016595" "" "0000016596" "0" "99" "11" "68540873" "68540873" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:05" "CPT1A_000020" "g.68540873del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000332" "" "0000016597" "0" "99" "11" "68542250" "68542251" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-09-09 07:36:51" "CPT1A_000046" "g.68542250_68542251del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016597" "" "0000016598" "0" "99" "11" "68542865" "68542865" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-11 12:36:18" "CPT1A_000023" "g.68542865A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000336" "" "0000016599" "0" "99" "11" "68542865" "68542865" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:18" "CPT1A_000022" "g.68542865A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000334" "" "0000016600" "0" "99" "11" "68542866" "68542866" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:23" "CPT1A_000024" "g.68542866T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000338" "" "0000016601" "0" "77" "11" "68542901" "68542901" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:02:32" "CPT1A_000034" "g.68542901C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016601" "" "0000016602" "0" "99" "11" "68548115" "68548115" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:02:37" "CPT1A_000025" "g.68548115A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000339" "" "0000016603" "0" "99" "11" "68548130" "68548130" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:02:42" "CPT1A_000001" "g.68548130G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000340" "" "0000016604" "0" "99" "11" "68548141" "68548141" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:02:47" "CPT1A_000002" "g.68548141C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000341" "" "0000016605" "0" "99" "11" "68548173" "68548173" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:02:52" "CPT1A_000003" "g.68548173C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000342" "" "0000016606" "0" "77" "11" "68548180" "68548180" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:02:57" "CPT1A_000035" "g.68548180del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016606" "" "0000016607" "0" "77" "11" "68548202" "68548202" "subst" "35" "0.0000769941" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:03:02" "CPT1A_000036" "g.68548202T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016607" "" "0000016608" "0" "99" "11" "68548205" "68548205" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-07-28 12:35:57" "CPT1A_000004" "g.68548205T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000343" "" "0000016609" "0" "99" "11" "68549252" "68549252" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:03:11" "CPT1A_000005" "g.68549252G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000344" "" "0000016610" "0" "77" "11" "68549293" "68549293" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:03:23" "CPT1A_000037" "g.68549293del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016610" "" "0000016611" "0" "99" "11" "68549350" "68549350" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:03:28" "CPT1A_000006" "g.68549350G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000345" "" "0000016612" "0" "99" "11" "68552282" "68552282" "subst" "35" "0.0000769941" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:03:32" "CPT1A_000038" "g.68552282C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016612" "" "0000016613" "0" "99" "11" "68552367" "68552367" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:03:37" "CPT1A_000007" "g.68552367T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000346" "" "0000016614" "0" "99" "11" "68552377" "68552377" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:03:41" "CPT1A_000008" "g.68552377G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000347" "" "0000016615" "0" "99" "11" "68552419" "68552419" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:03:46" "CPT1A_000009" "g.68552419A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000348" "" "0000016616" "0" "77" "11" "68560782" "68560782" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:03:50" "CPT1A_000039" "g.68560782C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016616" "" "0000016617" "0" "99" "11" "68560802" "68560802" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:03:56" "CPT1A_000010" "g.68560802del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000349" "" "0000016618" "0" "55" "11" "68560804" "68560804" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:04:00" "CPT1A_000011" "g.68560804G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000350" "" "0000016619" "0" "99" "11" "68560809" "68560809" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:04:07" "CPT1A_000012" "g.68560809G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000351" "" "0000016620" "0" "77" "11" "68560831" "68560831" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:04:41" "CPT1A_000040" "g.68560831G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016620" "" "0000016621" "0" "99" "11" "68560838" "68560838" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-07-19 06:47:31" "CPT1A_000013" "g.68560838G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000352" "" "0000016622" "0" "11" "11" "68562328" "68562328" "subst" "35" "0.0557438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:04:52" "CPT1A_000014" "g.68562328C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000353" "" "0000016623" "0" "77" "11" "68562381" "68562381" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:04:57" "CPT1A_000041" "g.68562381T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016623" "" "0000016624" "0" "77" "11" "68564368" "68564368" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-23 02:41:33" "CPT1A_000042" "g.68564368G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016624" "" "0000016625" "0" "77" "11" "68566685" "68566685" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:05:08" "CPT1A_000043" "g.68566685C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016625" "" "0000016626" "0" "99" "11" "68571474" "68571475" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:28" "CPT1A_000047" "g.68571474_68571475del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016626" "" "0000016627" "0" "99" "11" "68571545" "68571545" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:35" "CPT1A_000015" "g.68571545G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000354" "" "0000016628" "0" "55" "11" "68575021" "68575021" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 13:32:10" "CPT1A_000016" "g.68575021G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000355" "" "0000016629" "0" "99" "11" "68575090" "68575090" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:45" "CPT1A_000017" "g.68575090G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000356" "" "0000016630" "0" "77" "11" "68575107" "68575107" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:50" "CPT1A_000048" "g.68575107C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016630" "" "0000016631" "0" "99" "11" "68579904" "68579904" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:54" "CPT1A_000049" "g.68579904C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016631" "" "0000016632" "0" "99" "11" "68579964" "68579964" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:59" "CPT1A_000050" "g.68579964G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016632" "" "0000016633" "0" "77" "11" "68580000" "68580000" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:17:38" "CPT1A_000044" "g.68580000C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016633" "" "0000016634" "0" "99" "11" "68582847" "68582847" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:17:42" "CPT1A_000018" "g.68582847A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000357" "" "0000024138" "0" "00" "11" "68525199" "68525199" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:46:38" "CPT1A_000070" "g.68525199C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024139" "0" "00" "11" "68529001" "68529001" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:47:12" "CPT1A_000071" "g.68529001A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024140" "0" "00" "11" "68529156" "68529156" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-05-29 06:20:06" "CPT1A_000062" "g.68529156C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024141" "0" "00" "11" "68530062" "68530085" "del" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-14 04:58:59" "CPT1A_000063" "g.68530062_68530085del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024142" "0" "00" "11" "68540899" "68540899" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-07 16:58:49" "CPT1A_000064" "g.68540899T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024143" "0" "00" "11" "68542783" "68542783" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-05-23 02:41:33" "CPT1A_000065" "g.68542783C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024144" "0" "00" "11" "68548107" "68548107" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:07:40" "CPT1A_000066" "g.68548107C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024145" "0" "00" "11" "68548173" "68548173" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:08:02" "CPT1A_000067" "g.68548173C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024146" "0" "00" "11" "68548199" "68548199" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2020-08-21 21:19:44" "CPT1A_000068" "g.68548199G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024147" "0" "00" "11" "68549235" "68549243" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:08:53" "CPT1A_000069" "g.68549235_68549243del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024148" "0" "00" "11" "68549315" "68549317" "del" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-25 11:54:43" "CPT1A_000058" "g.68549315_68549317del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024149" "0" "00" "11" "68552281" "68552281" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:35:07" "CPT1A_000059" "g.68552281A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024150" "0" "00" "11" "68560781" "68560781" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-25 11:54:43" "CPT1A_000060" "g.68560781A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024151" "0" "00" "11" "68562380" "68562380" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-23 13:32:10" "CPT1A_000061" "g.68562380C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024152" "0" "00" "11" "68564323" "68564323" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:03:25" "CPT1A_000055" "g.68564323C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024153" "0" "00" "11" "68564403" "68564403" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:04:05" "CPT1A_000056" "g.68564403T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024154" "0" "00" "11" "68566685" "68566685" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:04:36" "CPT1A_000057" "g.68566685C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024155" "0" "00" "11" "68579984" "68579986" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:42:23" "CPT1A_000053" "g.68579984_68579986del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024156" "0" "00" "11" "68582843" "68582843" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:42:50" "CPT1A_000054" "g.68582843A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 505 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000000326" "00000660" "99" "2156" "0" "2156" "0" "c.2156G>A" "18/19" "p.(Gly719Asp)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000000326" "00000661" "99" "2252" "0" "2252" "0" "c.2252G>A" "18/19" "p.(Gly751Asp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000326" "00000662" "99" "2156" "0" "2156" "0" "c.2156G>A" "18/19" "p.(Gly719Asp)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000000326" "00000663" "99" "2156" "0" "2156" "0" "c.2156G>A" "18/19" "p.(Gly719Asp)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000000326" "00000664" "99" "2252" "0" "2252" "0" "c.2252G>A" "18/19" "p.(Gly751Asp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000327" "00000660" "99" "2129" "0" "2129" "0" "c.2129G>A" "17/19" "p.(Gly710Glu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000327" "00000661" "99" "2225" "0" "2225" "0" "c.2225G>A" "17/19" "p.(Gly742Glu)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000327" "00000662" "99" "2129" "0" "2129" "0" "c.2129G>A" "17/19" "p.(Gly710Glu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000327" "00000663" "99" "2129" "0" "2129" "0" "c.2129G>A" "17/19" "p.(Gly710Glu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000327" "00000664" "99" "2225" "0" "2225" "0" "c.2225G>A" "17/19" "p.(Gly742Glu)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000328" "00000660" "99" "2126" "0" "2126" "0" "c.2126G>A" "17/19" "p.(Gly709Glu)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000328" "00000661" "99" "2222" "0" "2222" "0" "c.2222G>A" "17/19" "p.(Gly741Glu)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000328" "00000662" "99" "2126" "0" "2126" "0" "c.2126G>A" "17/19" "p.(Gly709Glu)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000328" "00000663" "99" "2126" "0" "2126" "0" "c.2126G>A" "17/19" "p.(Gly709Glu)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000328" "00000664" "99" "2222" "0" "2222" "0" "c.2222G>A" "17/19" "p.(Gly741Glu)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000329" "00000660" "77" "2028" "6" "2028" "3" "c.2028+3_2028+6del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000000329" "00000661" "77" "2124" "6" "2124" "3" "c.2124+3_2124+6del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000000329" "00000662" "77" "2028" "6" "2028" "3" "c.2028+3_2028+6del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000000329" "00000663" "77" "2028" "6" "2028" "3" "c.2028+3_2028+6del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000000329" "00000664" "77" "2124" "6" "2124" "3" "c.2124+3_2124+6del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000000330" "00000660" "99" "1876" "-1" "1876" "-1" "c.1876-1G>A" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000000330" "00000661" "99" "1972" "-1" "1972" "-1" "c.1972-1G>A" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000000330" "00000662" "99" "1876" "-1" "1876" "-1" "c.1876-1G>A" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000000330" "00000663" "99" "1876" "-1" "1876" "-1" "c.1876-1G>A" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000000330" "00000664" "99" "1972" "-1" "1972" "-1" "c.1972-1G>A" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000000331" "00000660" "99" "1737" "0" "1737" "0" "c.1737C>A" "14/19" "p.(Tyr579*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000331" "00000661" "99" "1833" "0" "1833" "0" "c.1833C>A" "14/19" "p.(Tyr611*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000331" "00000662" "99" "1737" "0" "1737" "0" "c.1737C>A" "14/19" "p.(Tyr579*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000331" "00000663" "99" "1737" "0" "1737" "0" "c.1737C>A" "14/19" "p.(Tyr579*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000331" "00000664" "99" "1833" "0" "1833" "0" "c.1833C>A" "14/19" "p.(Tyr611*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000332" "00000660" "99" "1600" "0" "1600" "0" "c.1600del" "" "p.(Leu534*)" "r.(?)" "" "" "" "" "" "-" "0000000332" "00000661" "99" "1696" "0" "1696" "0" "c.1696del" "" "p.(Leu566*)" "r.(?)" "" "" "" "" "" "-" "0000000332" "00000662" "99" "1600" "0" "1600" "0" "c.1600del" "" "p.(Leu534*)" "r.(?)" "" "" "" "" "" "-" "0000000332" "00000663" "99" "1600" "0" "1600" "0" "c.1600del" "" "p.(Leu534*)" "r.(?)" "" "" "" "" "" "-" "0000000332" "00000664" "99" "1696" "0" "1696" "0" "c.1696del" "" "p.(Leu566*)" "r.(?)" "" "" "" "" "" "-" "0000000333" "00000660" "99" "1575" "84" "1575" "1" "c.1575+1_1575+84del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000000333" "00000661" "99" "1671" "84" "1671" "1" "c.1671+1_1671+84del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000000333" "00000662" "99" "1575" "84" "1575" "1" "c.1575+1_1575+84del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000000333" "00000663" "99" "1575" "84" "1575" "1" "c.1575+1_1575+84del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000000333" "00000664" "99" "1671" "84" "1671" "1" "c.1671+1_1671+84del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000000334" "00000660" "99" "1494" "0" "1494" "0" "c.1494T>G" "13/19" "p.(Tyr498*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000334" "00000661" "99" "1590" "0" "1590" "0" "c.1590T>G" "13/19" "p.(Tyr530*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000334" "00000662" "99" "1494" "0" "1494" "0" "c.1494T>G" "13/19" "p.(Tyr498*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000334" "00000663" "99" "1494" "0" "1494" "0" "c.1494T>G" "13/19" "p.(Tyr498*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000334" "00000664" "99" "1590" "0" "1590" "0" "c.1590T>G" "13/19" "p.(Tyr530*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000336" "00000660" "99" "1494" "0" "1494" "0" "c.1494T>A" "13/19" "p.(Tyr498*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000336" "00000661" "99" "1590" "0" "1590" "0" "c.1590T>A" "13/19" "p.(Tyr530*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000336" "00000662" "99" "1494" "0" "1494" "0" "c.1494T>A" "13/19" "p.(Tyr498*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000336" "00000663" "99" "1494" "0" "1494" "0" "c.1494T>A" "13/19" "p.(Tyr498*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000336" "00000664" "99" "1590" "0" "1590" "0" "c.1590T>A" "13/19" "p.(Tyr530*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000338" "00000660" "99" "1493" "0" "1493" "0" "c.1493A>G" "13/19" "p.(Tyr498Cys)" "r.(?)" "probably_damaging(0.992)" "" "missense_variant" "" "" "deleterious(0)" "0000000338" "00000661" "99" "1589" "0" "1589" "0" "c.1589A>G" "13/19" "p.(Tyr530Cys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000338" "00000662" "99" "1493" "0" "1493" "0" "c.1493A>G" "13/19" "p.(Tyr498Cys)" "r.(?)" "probably_damaging(0.992)" "" "missense_variant" "" "" "deleterious(0)" "0000000338" "00000663" "99" "1493" "0" "1493" "0" "c.1493A>G" "13/19" "p.(Tyr498Cys)" "r.(?)" "probably_damaging(0.992)" "" "missense_variant" "" "" "deleterious(0)" "0000000338" "00000664" "99" "1589" "0" "1589" "0" "c.1589A>G" "13/19" "p.(Tyr530Cys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000339" "00000660" "99" "1451" "0" "1451" "0" "c.1451T>C" "12/19" "p.(Leu484Pro)" "r.(?)" "benign(0.249)" "" "missense_variant" "" "" "deleterious(0.05)" "0000000339" "00000661" "99" "1547" "0" "1547" "0" "c.1547T>C" "12/19" "p.(Leu516Pro)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000339" "00000662" "99" "1451" "0" "1451" "0" "c.1451T>C" "12/19" "p.(Leu484Pro)" "r.(?)" "benign(0.249)" "" "missense_variant" "" "" "deleterious(0.05)" "0000000339" "00000663" "99" "1451" "0" "1451" "0" "c.1451T>C" "12/19" "p.(Leu484Pro)" "r.(?)" "benign(0.249)" "" "missense_variant" "" "" "deleterious(0.05)" "0000000339" "00000664" "99" "1547" "0" "1547" "0" "c.1547T>C" "12/19" "p.(Leu516Pro)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000340" "00000660" "99" "1436" "0" "1436" "0" "c.1436C>T" "12/19" "p.(Pro479Leu)" "r.(?)" "possibly_damaging(0.479)" "" "missense_variant" "" "" "deleterious(0)" "0000000340" "00000661" "99" "1532" "0" "1532" "0" "c.1532C>T" "12/19" "p.(Pro511Leu)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000340" "00000662" "99" "1436" "0" "1436" "0" "c.1436C>T" "12/19" "p.(Pro479Leu)" "r.(?)" "possibly_damaging(0.479)" "" "missense_variant" "" "" "deleterious(0)" "0000000340" "00000663" "99" "1436" "0" "1436" "0" "c.1436C>T" "12/19" "p.(Pro479Leu)" "r.(?)" "possibly_damaging(0.479)" "" "missense_variant" "" "" "deleterious(0)" "0000000340" "00000664" "99" "1532" "0" "1532" "0" "c.1532C>T" "12/19" "p.(Pro511Leu)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000341" "00000660" "99" "1425" "0" "1425" "0" "c.1425G>A" "12/19" "p.(Trp475*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000341" "00000661" "99" "1521" "0" "1521" "0" "c.1521G>A" "12/19" "p.(Trp507*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000341" "00000662" "99" "1425" "0" "1425" "0" "c.1425G>A" "12/19" "p.(Trp475*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000341" "00000663" "99" "1425" "0" "1425" "0" "c.1425G>A" "12/19" "p.(Trp475*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000341" "00000664" "99" "1521" "0" "1521" "0" "c.1521G>A" "12/19" "p.(Trp507*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000342" "00000660" "99" "1393" "0" "1393" "0" "c.1393G>T" "12/19" "p.(Gly465Trp)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000342" "00000661" "99" "1489" "0" "1489" "0" "c.1489G>T" "12/19" "p.(Gly497Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000342" "00000662" "99" "1393" "0" "1393" "0" "c.1393G>T" "12/19" "p.(Gly465Trp)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000342" "00000663" "99" "1393" "0" "1393" "0" "c.1393G>T" "12/19" "p.(Gly465Trp)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000342" "00000664" "99" "1489" "0" "1489" "0" "c.1489G>T" "12/19" "p.(Gly497Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000343" "00000660" "99" "1361" "0" "1361" "0" "c.1361A>G" "12/19" "p.(Asp454Gly)" "r.(?)" "probably_damaging(0.928)" "" "missense_variant" "" "" "deleterious(0.03)" "0000000343" "00000661" "99" "1457" "0" "1457" "0" "c.1457A>G" "12/19" "p.(Asp486Gly)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000343" "00000662" "99" "1361" "0" "1361" "0" "c.1361A>G" "12/19" "p.(Asp454Gly)" "r.(?)" "probably_damaging(0.928)" "" "missense_variant" "" "" "deleterious(0.03)" "0000000343" "00000663" "99" "1361" "0" "1361" "0" "c.1361A>G" "12/19" "p.(Asp454Gly)" "r.(?)" "probably_damaging(0.928)" "" "missense_variant" "" "" "deleterious(0.03)" "0000000343" "00000664" "99" "1457" "0" "1457" "0" "c.1457A>G" "12/19" "p.(Asp486Gly)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000344" "00000660" "99" "1339" "0" "1339" "0" "c.1339C>T" "11/19" "p.(Arg447*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000344" "00000661" "99" "1435" "0" "1435" "0" "c.1435C>T" "11/19" "p.(Arg479*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000344" "00000662" "99" "1339" "0" "1339" "0" "c.1339C>T" "11/19" "p.(Arg447*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000344" "00000663" "99" "1339" "0" "1339" "0" "c.1339C>T" "11/19" "p.(Arg447*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000344" "00000664" "99" "1435" "0" "1435" "0" "c.1435C>T" "11/19" "p.(Arg479*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000345" "00000660" "99" "1241" "0" "1241" "0" "c.1241C>T" "11/19" "p.(Ala414Val)" "r.(?)" "probably_damaging(0.984)" "" "missense_variant" "" "" "deleterious(0)" "0000000345" "00000661" "99" "1337" "0" "1337" "0" "c.1337C>T" "11/19" "p.(Ala446Val)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000345" "00000662" "99" "1241" "0" "1241" "0" "c.1241C>T" "11/19" "p.(Ala414Val)" "r.(?)" "probably_damaging(0.984)" "" "missense_variant" "" "" "deleterious(0)" "0000000345" "00000663" "99" "1241" "0" "1241" "0" "c.1241C>T" "11/19" "p.(Ala414Val)" "r.(?)" "probably_damaging(0.984)" "" "missense_variant" "" "" "deleterious(0)" "0000000345" "00000664" "99" "1337" "0" "1337" "0" "c.1337C>T" "11/19" "p.(Ala446Val)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000346" "00000660" "99" "1079" "0" "1079" "0" "c.1079A>G" "10/19" "p.(Glu360Gly)" "r.(?)" "probably_damaging(0.973)" "" "missense_variant" "" "" "deleterious(0)" "0000000346" "00000661" "99" "1175" "0" "1175" "0" "c.1175A>G" "10/19" "p.(Glu392Gly)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000346" "00000662" "99" "1079" "0" "1079" "0" "c.1079A>G" "10/19" "p.(Glu360Gly)" "r.(?)" "probably_damaging(0.973)" "" "missense_variant" "" "" "deleterious(0)" "0000000346" "00000663" "99" "1079" "0" "1079" "0" "c.1079A>G" "10/19" "p.(Glu360Gly)" "r.(?)" "probably_damaging(0.973)" "" "missense_variant" "" "" "deleterious(0)" "0000000346" "00000664" "99" "1175" "0" "1175" "0" "c.1175A>G" "10/19" "p.(Glu392Gly)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000347" "00000660" "99" "1069" "0" "1069" "0" "c.1069C>T" "10/19" "p.(Arg357Trp)" "r.(?)" "probably_damaging(0.943)" "" "missense_variant" "" "" "tolerated(0.06)" "0000000347" "00000661" "99" "1165" "0" "1165" "0" "c.1165C>T" "10/19" "p.(Arg389Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000347" "00000662" "99" "1069" "0" "1069" "0" "c.1069C>T" "10/19" "p.(Arg357Trp)" "r.(?)" "probably_damaging(0.943)" "" "missense_variant" "" "" "tolerated(0.06)" "0000000347" "00000663" "99" "1069" "0" "1069" "0" "c.1069C>T" "10/19" "p.(Arg357Trp)" "r.(?)" "probably_damaging(0.943)" "" "missense_variant" "" "" "tolerated(0.06)" "0000000347" "00000664" "99" "1165" "0" "1165" "0" "c.1165C>T" "10/19" "p.(Arg389Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000348" "00000660" "99" "1027" "0" "1027" "0" "c.1027T>G" "10/19" "p.(Phe343Val)" "r.(?)" "possibly_damaging(0.711)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000348" "00000661" "99" "1123" "0" "1123" "0" "c.1123T>G" "10/19" "p.(Phe375Val)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000348" "00000662" "99" "1027" "0" "1027" "0" "c.1027T>G" "10/19" "p.(Phe343Val)" "r.(?)" "possibly_damaging(0.711)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000348" "00000663" "99" "1027" "0" "1027" "0" "c.1027T>G" "10/19" "p.(Phe343Val)" "r.(?)" "possibly_damaging(0.711)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000348" "00000664" "99" "1123" "0" "1123" "0" "c.1123T>G" "10/19" "p.(Phe375Val)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000349" "00000660" "99" "948" "0" "948" "0" "c.948del" "" "p.(Ile317Serfs*12)" "r.(?)" "" "" "" "" "" "-" "0000000349" "00000661" "99" "1044" "0" "1044" "0" "c.1044del" "" "p.(Ile349Serfs*12)" "r.(?)" "" "" "" "" "" "-" "0000000349" "00000662" "99" "948" "0" "948" "0" "c.948del" "" "p.(Ile317Serfs*12)" "r.(?)" "" "" "" "" "" "-" "0000000349" "00000663" "99" "948" "0" "948" "0" "c.948del" "" "p.(Ile317Serfs*12)" "r.(?)" "" "" "" "" "" "-" "0000000349" "00000664" "99" "1044" "0" "1044" "0" "c.1044del" "" "p.(Ile349Serfs*12)" "r.(?)" "" "" "" "" "" "-" "0000000350" "00000660" "99" "946" "0" "946" "0" "c.946C>G" "9/19" "p.(Arg316Gly)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000000350" "00000661" "99" "1042" "0" "1042" "0" "c.1042C>G" "9/19" "p.(Arg348Gly)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000350" "00000662" "99" "946" "0" "946" "0" "c.946C>G" "9/19" "p.(Arg316Gly)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000000350" "00000663" "99" "946" "0" "946" "0" "c.946C>G" "9/19" "p.(Arg316Gly)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000000350" "00000664" "99" "1042" "0" "1042" "0" "c.1042C>G" "9/19" "p.(Arg348Gly)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000351" "00000660" "99" "941" "0" "941" "0" "c.941C>T" "9/19" "p.(Thr314Ile)" "r.(?)" "probably_damaging(0.99)" "" "missense_variant" "" "" "deleterious(0)" "0000000351" "00000661" "99" "1037" "0" "1037" "0" "c.1037C>T" "9/19" "p.(Thr346Ile)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000351" "00000662" "99" "941" "0" "941" "0" "c.941C>T" "9/19" "p.(Thr314Ile)" "r.(?)" "probably_damaging(0.99)" "" "missense_variant" "" "" "deleterious(0)" "0000000351" "00000663" "99" "941" "0" "941" "0" "c.941C>T" "9/19" "p.(Thr314Ile)" "r.(?)" "probably_damaging(0.99)" "" "missense_variant" "" "" "deleterious(0)" "0000000351" "00000664" "99" "1037" "0" "1037" "0" "c.1037C>T" "9/19" "p.(Thr346Ile)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000352" "00000660" "99" "912" "0" "912" "0" "c.912C>G" "9/19" "p.(Cys304Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000352" "00000661" "99" "1008" "0" "1008" "0" "c.1008C>G" "9/19" "p.(Cys336Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000352" "00000662" "99" "912" "0" "912" "0" "c.912C>G" "9/19" "p.(Cys304Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000352" "00000663" "99" "912" "0" "912" "0" "c.912C>G" "9/19" "p.(Cys304Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000352" "00000664" "99" "1008" "0" "1008" "0" "c.1008C>G" "9/19" "p.(Cys336Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000353" "00000660" "99" "823" "0" "823" "0" "c.823G>A" "8/19" "p.(Ala275Thr)" "r.(?)" "benign(0.006)" "" "missense_variant" "" "" "tolerated(0.38)" "0000000353" "00000661" "99" "919" "0" "919" "0" "c.919G>A" "8/19" "p.(Ala307Thr)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000353" "00000662" "99" "823" "0" "823" "0" "c.823G>A" "8/19" "p.(Ala275Thr)" "r.(?)" "benign(0.006)" "" "missense_variant" "" "" "tolerated(0.38)" "0000000353" "00000663" "99" "823" "0" "823" "0" "c.823G>A" "8/19" "p.(Ala275Thr)" "r.(?)" "benign(0.006)" "" "missense_variant" "" "" "tolerated(0.38)" "0000000353" "00000664" "99" "919" "0" "919" "0" "c.919G>A" "8/19" "p.(Ala307Thr)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000354" "00000660" "99" "478" "0" "478" "0" "c.478C>T" "5/19" "p.(Arg160*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000354" "00000661" "99" "574" "0" "574" "0" "c.574C>T" "5/19" "p.(Arg192*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000354" "00000662" "99" "478" "0" "478" "0" "c.478C>T" "5/19" "p.(Arg160*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000354" "00000663" "99" "478" "0" "478" "0" "c.478C>T" "5/19" "p.(Arg160*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000354" "00000664" "99" "574" "0" "574" "0" "c.574C>T" "5/19" "p.(Arg192*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000355" "00000660" "99" "367" "0" "367" "0" "c.367C>T" "4/4" "p.(Arg123Cys)" "r.(?)" "possibly_damaging(0.692)" "" "missense_variant" "" "" "deleterious(0)" "0000000355" "00000661" "99" "463" "0" "463" "0" "c.463C>T" "4/19" "p.(Arg155Cys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000355" "00000662" "99" "367" "0" "367" "0" "c.367C>T" "4/4" "p.(Arg123Cys)" "r.(?)" "possibly_damaging(0.692)" "" "missense_variant" "" "" "deleterious(0)" "0000000355" "00000663" "99" "367" "0" "367" "0" "c.367C>T" "4/4" "p.(Arg123Cys)" "r.(?)" "possibly_damaging(0.692)" "" "missense_variant" "" "" "deleterious(0)" "0000000355" "00000664" "99" "463" "0" "463" "0" "c.463C>T" "4/19" "p.(Arg155Cys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000356" "00000660" "99" "298" "0" "298" "0" "c.298C>T" "4/4" "p.(Gln100*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000356" "00000661" "99" "394" "0" "394" "0" "c.394C>T" "4/19" "p.(Gln132*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000356" "00000662" "99" "298" "0" "298" "0" "c.298C>T" "4/4" "p.(Gln100*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000356" "00000663" "99" "298" "0" "298" "0" "c.298C>T" "4/4" "p.(Gln100*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000356" "00000664" "99" "394" "0" "394" "0" "c.394C>T" "4/19" "p.(Gln132*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000357" "00000660" "99" "96" "0" "96" "0" "c.96T>G" "2/4" "p.(Tyr32*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000357" "00000661" "99" "192" "0" "192" "0" "c.192T>G" "2/19" "p.(Tyr64*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000357" "00000662" "99" "96" "0" "96" "0" "c.96T>G" "2/4" "p.(Tyr32*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000357" "00000663" "99" "96" "0" "96" "0" "c.96T>G" "2/4" "p.(Tyr32*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000357" "00000664" "99" "192" "0" "192" "0" "c.192T>G" "2/19" "p.(Tyr64*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000002042" "00000660" "00" "2095" "0" "2107" "0" "c.2095_2107del" "" "p.(Leu699Glnfs*46)" "r.(?)" "" "" "" "" "" "-" "0000002042" "00000661" "00" "2191" "0" "2203" "0" "c.2191_2203del" "" "p.(Leu731Glnfs*46)" "r.(?)" "" "" "" "" "" "-" "0000002042" "00000662" "55" "2107" "0" "2095" "0" "c.2095_2107del" "" "p.(Leu699Glnfs*52)" "r.(?)" "" "" "" "" "" "-" "0000002042" "00000663" "00" "2095" "0" "2107" "0" "c.2095_2107del" "" "p.(Leu699Glnfs*52)" "r.(?)" "" "" "" "" "" "-" "0000002042" "00000664" "00" "2191" "0" "2203" "0" "c.2191_2203del" "" "p.(Leu731Glnfs*52)" "r.(?)" "" "" "" "" "" "-" "0000002065" "00000660" "99" "823" "0" "823" "0" "c.823G>C" "8/19" "p.(Ala275Pro)" "r.(?)" "possibly_damaging(0.719)" "" "missense_variant" "" "" "deleterious(0.03)" "0000002065" "00000661" "99" "919" "0" "919" "0" "c.919G>C" "8/19" "p.(Ala307Pro)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002065" "00000662" "99" "823" "0" "823" "0" "c.823G>C" "8/19" "p.(Ala275Pro)" "r.(?)" "possibly_damaging(0.719)" "" "missense_variant" "" "" "deleterious(0.03)" "0000002065" "00000663" "99" "823" "0" "823" "0" "c.823G>C" "8/19" "p.(Ala275Pro)" "r.(?)" "possibly_damaging(0.719)" "" "missense_variant" "" "" "deleterious(0.03)" "0000002065" "00000664" "99" "919" "0" "919" "0" "c.919G>C" "8/19" "p.(Ala307Pro)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000005230" "00000660" "00" "2107" "0" "2095" "0" "c.2095_2107del" "" "p.(Leu699Glnfs*46)" "r.(?)" "" "" "" "" "" "-" "0000005230" "00000661" "00" "2203" "0" "2191" "0" "c.2191_2203del" "" "p.(Leu731Glnfs*46)" "r.(?)" "" "" "" "" "" "-" "0000005230" "00000662" "00" "2107" "0" "2095" "0" "c.2095_2107del" "" "p.(Leu699Glnfs*52)" "r.(?)" "" "" "" "" "" "-" "0000005230" "00000663" "00" "2107" "0" "2095" "0" "c.2095_2107del" "" "p.(Leu699Glnfs*52)" "r.(?)" "" "" "" "" "" "-" "0000005230" "00000664" "00" "2203" "0" "2191" "0" "c.2191_2203del" "" "p.(Leu731Glnfs*52)" "r.(?)" "" "" "" "" "" "-" "0000005242" "00000660" "00" "2028" "2" "2027" "0" "c.2027_2028+2del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005242" "00000661" "00" "2124" "2" "2123" "0" "c.2123_2124+2del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005242" "00000662" "00" "2028" "2" "2027" "0" "c.2027_2028+2del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005242" "00000663" "00" "2028" "2" "2027" "0" "c.2027_2028+2del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000005242" "00000664" "00" "2124" "2" "2123" "0" "c.2123_2124+2del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016587" "00000660" "00" "2156" "0" "2156" "0" "c.2156G>A" "" "p.(Gly719Asp)" "r.(?)" "" "" "" "" "" "-" "0000016587" "00000661" "00" "2252" "0" "2252" "0" "c.2252G>A" "" "p.(Gly751Asp)" "r.(?)" "" "" "" "" "" "-" "0000016587" "00000662" "00" "2156" "0" "2156" "0" "c.2156G>A" "" "p.(Gly719Asp)" "r.(?)" "" "" "" "" "" "-" "0000016587" "00000663" "00" "2156" "0" "2156" "0" "c.2156G>A" "" "p.(Gly719Asp)" "r.(?)" "" "" "" "" "" "-" "0000016587" "00000664" "00" "2252" "0" "2252" "0" "c.2252G>A" "" "p.(Gly751Asp)" "r.(?)" "" "" "" "" "" "-" "0000016588" "00000660" "00" "2129" "0" "2129" "0" "c.2129G>A" "" "p.(Gly710Glu)" "r.(?)" "" "" "" "" "" "-" "0000016588" "00000661" "00" "2225" "0" "2225" "0" "c.2225G>A" "" "p.(Gly742Glu)" "r.(?)" "" "" "" "" "" "-" "0000016588" "00000662" "00" "2129" "0" "2129" "0" "c.2129G>A" "" "p.(Gly710Glu)" "r.(?)" "" "" "" "" "" "-" "0000016588" "00000663" "00" "2129" "0" "2129" "0" "c.2129G>A" "" "p.(Gly710Glu)" "r.(?)" "" "" "" "" "" "-" "0000016588" "00000664" "00" "2225" "0" "2225" "0" "c.2225G>A" "" "p.(Gly742Glu)" "r.(?)" "" "" "" "" "" "-" "0000016589" "00000660" "00" "2126" "0" "2126" "0" "c.2126G>A" "" "p.(Gly709Glu)" "r.(?)" "" "" "" "" "" "-" "0000016589" "00000661" "00" "2222" "0" "2222" "0" "c.2222G>A" "" "p.(Gly741Glu)" "r.(?)" "" "" "" "" "" "-" "0000016589" "00000662" "00" "2126" "0" "2126" "0" "c.2126G>A" "" "p.(Gly709Glu)" "r.(?)" "" "" "" "" "" "-" "0000016589" "00000663" "00" "2126" "0" "2126" "0" "c.2126G>A" "" "p.(Gly709Glu)" "r.(?)" "" "" "" "" "" "-" "0000016589" "00000664" "00" "2222" "0" "2222" "0" "c.2222G>A" "" "p.(Gly741Glu)" "r.(?)" "" "" "" "" "" "-" "0000016590" "00000660" "00" "2071" "0" "2071" "0" "c.2071C>T" "" "p.(Gln691*)" "r.(?)" "" "" "" "" "" "-" "0000016590" "00000661" "00" "2167" "0" "2167" "0" "c.2167C>T" "" "p.(Gln723*)" "r.(?)" "" "" "" "" "" "-" "0000016590" "00000662" "00" "2071" "0" "2071" "0" "c.2071C>T" "" "p.(Gln691*)" "r.(?)" "" "" "" "" "" "-" "0000016590" "00000663" "00" "2071" "0" "2071" "0" "c.2071C>T" "" "p.(Gln691*)" "r.(?)" "" "" "" "" "" "-" "0000016590" "00000664" "00" "2167" "0" "2167" "0" "c.2167C>T" "" "p.(Gln723*)" "r.(?)" "" "" "" "" "" "-" "0000016591" "00000660" "00" "2028" "3" "2028" "6" "c.2028+3_2028+6del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016591" "00000661" "00" "2124" "3" "2124" "6" "c.2124+3_2124+6del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016591" "00000662" "00" "2028" "3" "2028" "6" "c.2028+3_2028+6del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016591" "00000663" "00" "2028" "3" "2028" "6" "c.2028+3_2028+6del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016591" "00000664" "00" "2124" "3" "2124" "6" "c.2124+3_2124+6del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016592" "00000660" "00" "1997" "0" "1998" "0" "c.1997_1998insAAAA" "" "p.(Tyr666*)" "r.(?)" "" "" "" "" "" "-" "0000016592" "00000661" "00" "2093" "0" "2094" "0" "c.2093_2094insAAAA" "" "p.(Tyr698*)" "r.(?)" "" "" "" "" "" "-" "0000016592" "00000662" "00" "1997" "0" "1998" "0" "c.1997_1998insAAAA" "" "p.(Tyr666*)" "r.(?)" "" "" "" "" "" "-" "0000016592" "00000663" "00" "1997" "0" "1998" "0" "c.1997_1998insAAAA" "" "p.(Tyr666*)" "r.(?)" "" "" "" "" "" "-" "0000016592" "00000664" "00" "2093" "0" "2094" "0" "c.2093_2094insAAAA" "" "p.(Tyr698*)" "r.(?)" "" "" "" "" "" "-" "0000016593" "00000660" "00" "1876" "-1" "1876" "-1" "c.1876-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016593" "00000661" "00" "1972" "-1" "1972" "-1" "c.1972-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016593" "00000662" "00" "1876" "-1" "1876" "-1" "c.1876-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016593" "00000663" "00" "1876" "-1" "1876" "-1" "c.1876-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016593" "00000664" "00" "1972" "-1" "1972" "-1" "c.1972-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016594" "00000660" "00" "1737" "0" "1737" "0" "c.1737C>A" "" "p.(Tyr579*)" "r.(?)" "" "" "" "" "" "-" "0000016594" "00000661" "00" "1833" "0" "1833" "0" "c.1833C>A" "" "p.(Tyr611*)" "r.(?)" "" "" "" "" "" "-" "0000016594" "00000662" "00" "1737" "0" "1737" "0" "c.1737C>A" "" "p.(Tyr579*)" "r.(?)" "" "" "" "" "" "-" "0000016594" "00000663" "00" "1737" "0" "1737" "0" "c.1737C>A" "" "p.(Tyr579*)" "r.(?)" "" "" "" "" "" "-" "0000016594" "00000664" "00" "1833" "0" "1833" "0" "c.1833C>A" "" "p.(Tyr611*)" "r.(?)" "" "" "" "" "" "-" "0000016595" "00000660" "00" "1711" "0" "1711" "0" "c.1711C>T" "" "p.(Gln571*)" "r.(?)" "" "" "" "" "" "-" "0000016595" "00000661" "00" "1807" "0" "1807" "0" "c.1807C>T" "" "p.(Gln603*)" "r.(?)" "" "" "" "" "" "-" "0000016595" "00000662" "00" "1711" "0" "1711" "0" "c.1711C>T" "" "p.(Gln571*)" "r.(?)" "" "" "" "" "" "-" "0000016595" "00000663" "00" "1711" "0" "1711" "0" "c.1711C>T" "" "p.(Gln571*)" "r.(?)" "" "" "" "" "" "-" "0000016595" "00000664" "00" "1807" "0" "1807" "0" "c.1807C>T" "" "p.(Gln603*)" "r.(?)" "" "" "" "" "" "-" "0000016596" "00000660" "00" "1600" "0" "1600" "0" "c.1600del" "" "p.(Leu534*)" "r.(?)" "" "" "" "" "" "-" "0000016596" "00000661" "00" "1696" "0" "1696" "0" "c.1696del" "" "p.(Leu566*)" "r.(?)" "" "" "" "" "" "-" "0000016596" "00000662" "00" "1600" "0" "1600" "0" "c.1600del" "" "p.(Leu534*)" "r.(?)" "" "" "" "" "" "-" "0000016596" "00000663" "00" "1600" "0" "1600" "0" "c.1600del" "" "p.(Leu534*)" "r.(?)" "" "" "" "" "" "-" "0000016596" "00000664" "00" "1696" "0" "1696" "0" "c.1696del" "" "p.(Leu566*)" "r.(?)" "" "" "" "" "" "-" "0000016597" "00000660" "00" "1575" "533" "1575" "534" "c.1575+533_1575+534del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016597" "00000661" "00" "1671" "533" "1671" "534" "c.1671+533_1671+534del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016597" "00000662" "00" "1575" "533" "1575" "534" "c.1575+533_1575+534del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016597" "00000663" "00" "1575" "533" "1575" "534" "c.1575+533_1575+534del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016597" "00000664" "00" "1671" "533" "1671" "534" "c.1671+533_1671+534del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016598" "00000660" "00" "1494" "0" "1494" "0" "c.1494T>A" "" "p.(Tyr498*)" "r.(?)" "" "" "" "" "" "-" "0000016598" "00000661" "00" "1590" "0" "1590" "0" "c.1590T>A" "" "p.(Tyr530*)" "r.(?)" "" "" "" "" "" "-" "0000016598" "00000662" "00" "1494" "0" "1494" "0" "c.1494T>A" "" "p.(Tyr498*)" "r.(?)" "" "" "" "" "" "-" "0000016598" "00000663" "00" "1494" "0" "1494" "0" "c.1494T>A" "" "p.(Tyr498*)" "r.(?)" "" "" "" "" "" "-" "0000016598" "00000664" "00" "1590" "0" "1590" "0" "c.1590T>A" "" "p.(Tyr530*)" "r.(?)" "" "" "" "" "" "-" "0000016599" "00000660" "00" "1494" "0" "1494" "0" "c.1494T>G" "" "p.(Tyr498*)" "r.(?)" "" "" "" "" "" "-" "0000016599" "00000661" "00" "1590" "0" "1590" "0" "c.1590T>G" "" "p.(Tyr530*)" "r.(?)" "" "" "" "" "" "-" "0000016599" "00000662" "00" "1494" "0" "1494" "0" "c.1494T>G" "" "p.(Tyr498*)" "r.(?)" "" "" "" "" "" "-" "0000016599" "00000663" "00" "1494" "0" "1494" "0" "c.1494T>G" "" "p.(Tyr498*)" "r.(?)" "" "" "" "" "" "-" "0000016599" "00000664" "00" "1590" "0" "1590" "0" "c.1590T>G" "" "p.(Tyr530*)" "r.(?)" "" "" "" "" "" "-" "0000016600" "00000660" "00" "1493" "0" "1493" "0" "c.1493A>G" "" "p.(Tyr498Cys)" "r.(?)" "" "" "" "" "" "-" "0000016600" "00000661" "00" "1589" "0" "1589" "0" "c.1589A>G" "" "p.(Tyr530Cys)" "r.(?)" "" "" "" "" "" "-" "0000016600" "00000662" "00" "1493" "0" "1493" "0" "c.1493A>G" "" "p.(Tyr498Cys)" "r.(?)" "" "" "" "" "" "-" "0000016600" "00000663" "00" "1493" "0" "1493" "0" "c.1493A>G" "" "p.(Tyr498Cys)" "r.(?)" "" "" "" "" "" "-" "0000016600" "00000664" "00" "1589" "0" "1589" "0" "c.1589A>G" "" "p.(Tyr530Cys)" "r.(?)" "" "" "" "" "" "-" "0000016601" "00000660" "00" "1459" "-1" "1459" "-1" "c.1459-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016601" "00000661" "00" "1555" "-1" "1555" "-1" "c.1555-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016601" "00000662" "00" "1459" "-1" "1459" "-1" "c.1459-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016601" "00000663" "00" "1459" "-1" "1459" "-1" "c.1459-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016601" "00000664" "00" "1555" "-1" "1555" "-1" "c.1555-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016602" "00000660" "00" "1451" "0" "1451" "0" "c.1451T>C" "" "p.(Leu484Pro)" "r.(?)" "" "" "" "" "" "-" "0000016602" "00000661" "00" "1547" "0" "1547" "0" "c.1547T>C" "" "p.(Leu516Pro)" "r.(?)" "" "" "" "" "" "-" "0000016602" "00000662" "00" "1451" "0" "1451" "0" "c.1451T>C" "" "p.(Leu484Pro)" "r.(?)" "" "" "" "" "" "-" "0000016602" "00000663" "00" "1451" "0" "1451" "0" "c.1451T>C" "" "p.(Leu484Pro)" "r.(?)" "" "" "" "" "" "-" "0000016602" "00000664" "00" "1547" "0" "1547" "0" "c.1547T>C" "" "p.(Leu516Pro)" "r.(?)" "" "" "" "" "" "-" "0000016603" "00000660" "00" "1436" "0" "1436" "0" "c.1436C>T" "" "p.(Pro479Leu)" "r.(?)" "" "" "" "" "" "-" "0000016603" "00000661" "00" "1532" "0" "1532" "0" "c.1532C>T" "" "p.(Pro511Leu)" "r.(?)" "" "" "" "" "" "-" "0000016603" "00000662" "00" "1436" "0" "1436" "0" "c.1436C>T" "" "p.(Pro479Leu)" "r.(?)" "" "" "" "" "" "-" "0000016603" "00000663" "00" "1436" "0" "1436" "0" "c.1436C>T" "" "p.(Pro479Leu)" "r.(?)" "" "" "" "" "" "-" "0000016603" "00000664" "00" "1532" "0" "1532" "0" "c.1532C>T" "" "p.(Pro511Leu)" "r.(?)" "" "" "" "" "" "-" "0000016604" "00000660" "00" "1425" "0" "1425" "0" "c.1425G>A" "" "p.(Trp475*)" "r.(?)" "" "" "" "" "" "-" "0000016604" "00000661" "00" "1521" "0" "1521" "0" "c.1521G>A" "" "p.(Trp507*)" "r.(?)" "" "" "" "" "" "-" "0000016604" "00000662" "00" "1425" "0" "1425" "0" "c.1425G>A" "" "p.(Trp475*)" "r.(?)" "" "" "" "" "" "-" "0000016604" "00000663" "00" "1425" "0" "1425" "0" "c.1425G>A" "" "p.(Trp475*)" "r.(?)" "" "" "" "" "" "-" "0000016604" "00000664" "00" "1521" "0" "1521" "0" "c.1521G>A" "" "p.(Trp507*)" "r.(?)" "" "" "" "" "" "-" "0000016605" "00000660" "00" "1393" "0" "1393" "0" "c.1393G>T" "" "p.(Gly465Trp)" "r.(?)" "" "" "" "" "" "-" "0000016605" "00000661" "00" "1489" "0" "1489" "0" "c.1489G>T" "" "p.(Gly497Trp)" "r.(?)" "" "" "" "" "" "-" "0000016605" "00000662" "00" "1393" "0" "1393" "0" "c.1393G>T" "" "p.(Gly465Trp)" "r.(?)" "" "" "" "" "" "-" "0000016605" "00000663" "00" "1393" "0" "1393" "0" "c.1393G>T" "" "p.(Gly465Trp)" "r.(?)" "" "" "" "" "" "-" "0000016605" "00000664" "00" "1489" "0" "1489" "0" "c.1489G>T" "" "p.(Gly497Trp)" "r.(?)" "" "" "" "" "" "-" "0000016606" "00000660" "00" "1386" "0" "1386" "0" "c.1386del" "" "p.(Phe462Leufs*69)" "r.(?)" "" "" "" "" "" "-" "0000016606" "00000661" "00" "1482" "0" "1482" "0" "c.1482del" "" "p.(Phe494Leufs*69)" "r.(?)" "" "" "" "" "" "-" "0000016606" "00000662" "00" "1386" "0" "1386" "0" "c.1386del" "" "p.(Phe462Leufs*69)" "r.(?)" "" "" "" "" "" "-" "0000016606" "00000663" "00" "1386" "0" "1386" "0" "c.1386del" "" "p.(Phe462Leufs*69)" "r.(?)" "" "" "" "" "" "-" "0000016606" "00000664" "00" "1482" "0" "1482" "0" "c.1482del" "" "p.(Phe494Leufs*69)" "r.(?)" "" "" "" "" "" "-" "0000016607" "00000660" "00" "1364" "0" "1364" "0" "c.1364A>C" "" "p.(Lys455Thr)" "r.(?)" "" "" "" "" "" "-" "0000016607" "00000661" "00" "1460" "0" "1460" "0" "c.1460A>C" "" "p.(Lys487Thr)" "r.(?)" "" "" "" "" "" "-" "0000016607" "00000662" "00" "1364" "0" "1364" "0" "c.1364A>C" "" "p.(Lys455Thr)" "r.(?)" "" "" "" "" "" "-" "0000016607" "00000663" "00" "1364" "0" "1364" "0" "c.1364A>C" "" "p.(Lys455Thr)" "r.(?)" "" "" "" "" "" "-" "0000016607" "00000664" "00" "1460" "0" "1460" "0" "c.1460A>C" "" "p.(Lys487Thr)" "r.(?)" "" "" "" "" "" "-" "0000016608" "00000660" "00" "1361" "0" "1361" "0" "c.1361A>G" "" "p.(Asp454Gly)" "r.(?)" "" "" "" "" "" "-" "0000016608" "00000661" "00" "1457" "0" "1457" "0" "c.1457A>G" "" "p.(Asp486Gly)" "r.(?)" "" "" "" "" "" "-" "0000016608" "00000662" "00" "1361" "0" "1361" "0" "c.1361A>G" "" "p.(Asp454Gly)" "r.(?)" "" "" "" "" "" "-" "0000016608" "00000663" "00" "1361" "0" "1361" "0" "c.1361A>G" "" "p.(Asp454Gly)" "r.(?)" "" "" "" "" "" "-" "0000016608" "00000664" "00" "1457" "0" "1457" "0" "c.1457A>G" "" "p.(Asp486Gly)" "r.(?)" "" "" "" "" "" "-" "0000016609" "00000660" "00" "1339" "0" "1339" "0" "c.1339C>T" "" "p.(Arg447*)" "r.(?)" "" "" "" "" "" "-" "0000016609" "00000661" "00" "1435" "0" "1435" "0" "c.1435C>T" "" "p.(Arg479*)" "r.(?)" "" "" "" "" "" "-" "0000016609" "00000662" "00" "1339" "0" "1339" "0" "c.1339C>T" "" "p.(Arg447*)" "r.(?)" "" "" "" "" "" "-" "0000016609" "00000663" "00" "1339" "0" "1339" "0" "c.1339C>T" "" "p.(Arg447*)" "r.(?)" "" "" "" "" "" "-" "0000016609" "00000664" "00" "1435" "0" "1435" "0" "c.1435C>T" "" "p.(Arg479*)" "r.(?)" "" "" "" "" "" "-" "0000016610" "00000660" "00" "1298" "0" "1298" "0" "c.1298del" "" "p.(Asp433Valfs*98)" "r.(?)" "" "" "" "" "" "-" "0000016610" "00000661" "00" "1394" "0" "1394" "0" "c.1394del" "" "p.(Asp465Valfs*98)" "r.(?)" "" "" "" "" "" "-" "0000016610" "00000662" "00" "1298" "0" "1298" "0" "c.1298del" "" "p.(Asp433Valfs*98)" "r.(?)" "" "" "" "" "" "-" "0000016610" "00000663" "00" "1298" "0" "1298" "0" "c.1298del" "" "p.(Asp433Valfs*98)" "r.(?)" "" "" "" "" "" "-" "0000016610" "00000664" "00" "1394" "0" "1394" "0" "c.1394del" "" "p.(Asp465Valfs*98)" "r.(?)" "" "" "" "" "" "-" "0000016611" "00000660" "00" "1241" "0" "1241" "0" "c.1241C>T" "" "p.(Ala414Val)" "r.(?)" "" "" "" "" "" "-" "0000016611" "00000661" "00" "1337" "0" "1337" "0" "c.1337C>T" "" "p.(Ala446Val)" "r.(?)" "" "" "" "" "" "-" "0000016611" "00000662" "00" "1241" "0" "1241" "0" "c.1241C>T" "" "p.(Ala414Val)" "r.(?)" "" "" "" "" "" "-" "0000016611" "00000663" "00" "1241" "0" "1241" "0" "c.1241C>T" "" "p.(Ala414Val)" "r.(?)" "" "" "" "" "" "-" "0000016611" "00000664" "00" "1337" "0" "1337" "0" "c.1337C>T" "" "p.(Ala446Val)" "r.(?)" "" "" "" "" "" "-" "0000016612" "00000660" "00" "1163" "1" "1163" "1" "c.1163+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016612" "00000661" "00" "1259" "1" "1259" "1" "c.1259+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016612" "00000662" "00" "1163" "1" "1163" "1" "c.1163+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016612" "00000663" "00" "1163" "1" "1163" "1" "c.1163+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016612" "00000664" "00" "1259" "1" "1259" "1" "c.1259+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016613" "00000660" "00" "1079" "0" "1079" "0" "c.1079A>G" "" "p.(Glu360Gly)" "r.(?)" "" "" "" "" "" "-" "0000016613" "00000661" "00" "1175" "0" "1175" "0" "c.1175A>G" "" "p.(Glu392Gly)" "r.(?)" "" "" "" "" "" "-" "0000016613" "00000662" "00" "1079" "0" "1079" "0" "c.1079A>G" "" "p.(Glu360Gly)" "r.(?)" "" "" "" "" "" "-" "0000016613" "00000663" "00" "1079" "0" "1079" "0" "c.1079A>G" "" "p.(Glu360Gly)" "r.(?)" "" "" "" "" "" "-" "0000016613" "00000664" "00" "1175" "0" "1175" "0" "c.1175A>G" "" "p.(Glu392Gly)" "r.(?)" "" "" "" "" "" "-" "0000016614" "00000660" "00" "1069" "0" "1069" "0" "c.1069C>T" "" "p.(Arg357Trp)" "r.(?)" "" "" "" "" "" "-" "0000016614" "00000661" "00" "1165" "0" "1165" "0" "c.1165C>T" "" "p.(Arg389Trp)" "r.(?)" "" "" "" "" "" "-" "0000016614" "00000662" "00" "1069" "0" "1069" "0" "c.1069C>T" "" "p.(Arg357Trp)" "r.(?)" "" "" "" "" "" "-" "0000016614" "00000663" "00" "1069" "0" "1069" "0" "c.1069C>T" "" "p.(Arg357Trp)" "r.(?)" "" "" "" "" "" "-" "0000016614" "00000664" "00" "1165" "0" "1165" "0" "c.1165C>T" "" "p.(Arg389Trp)" "r.(?)" "" "" "" "" "" "-" "0000016615" "00000660" "00" "1027" "0" "1027" "0" "c.1027T>G" "" "p.(Phe343Val)" "r.(?)" "" "" "" "" "" "-" "0000016615" "00000661" "00" "1123" "0" "1123" "0" "c.1123T>G" "" "p.(Phe375Val)" "r.(?)" "" "" "" "" "" "-" "0000016615" "00000662" "00" "1027" "0" "1027" "0" "c.1027T>G" "" "p.(Phe343Val)" "r.(?)" "" "" "" "" "" "-" "0000016615" "00000663" "00" "1027" "0" "1027" "0" "c.1027T>G" "" "p.(Phe343Val)" "r.(?)" "" "" "" "" "" "-" "0000016615" "00000664" "00" "1123" "0" "1123" "0" "c.1123T>G" "" "p.(Phe375Val)" "r.(?)" "" "" "" "" "" "-" "0000016616" "00000660" "00" "967" "1" "967" "1" "c.967+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016616" "00000661" "00" "1063" "1" "1063" "1" "c.1063+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016616" "00000662" "00" "967" "1" "967" "1" "c.967+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016616" "00000663" "00" "967" "1" "967" "1" "c.967+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016616" "00000664" "00" "1063" "1" "1063" "1" "c.1063+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016617" "00000660" "00" "948" "0" "948" "0" "c.948del" "" "p.(Ile317Serfs*12)" "r.(?)" "" "" "" "" "" "-" "0000016617" "00000661" "00" "1044" "0" "1044" "0" "c.1044del" "" "p.(Ile349Serfs*12)" "r.(?)" "" "" "" "" "" "-" "0000016617" "00000662" "00" "948" "0" "948" "0" "c.948del" "" "p.(Ile317Serfs*12)" "r.(?)" "" "" "" "" "" "-" "0000016617" "00000663" "00" "948" "0" "948" "0" "c.948del" "" "p.(Ile317Serfs*12)" "r.(?)" "" "" "" "" "" "-" "0000016617" "00000664" "00" "1044" "0" "1044" "0" "c.1044del" "" "p.(Ile349Serfs*12)" "r.(?)" "" "" "" "" "" "-" "0000016618" "00000660" "00" "946" "0" "946" "0" "c.946C>G" "" "p.(Arg316Gly)" "r.(?)" "" "" "" "" "" "-" "0000016618" "00000661" "00" "1042" "0" "1042" "0" "c.1042C>G" "" "p.(Arg348Gly)" "r.(?)" "" "" "" "" "" "-" "0000016618" "00000662" "00" "946" "0" "946" "0" "c.946C>G" "" "p.(Arg316Gly)" "r.(?)" "" "" "" "" "" "-" "0000016618" "00000663" "00" "946" "0" "946" "0" "c.946C>G" "" "p.(Arg316Gly)" "r.(?)" "" "" "" "" "" "-" "0000016618" "00000664" "00" "1042" "0" "1042" "0" "c.1042C>G" "" "p.(Arg348Gly)" "r.(?)" "" "" "" "" "" "-" "0000016619" "00000660" "00" "941" "0" "941" "0" "c.941C>T" "" "p.(Thr314Ile)" "r.(?)" "" "" "" "" "" "-" "0000016619" "00000661" "00" "1037" "0" "1037" "0" "c.1037C>T" "" "p.(Thr346Ile)" "r.(?)" "" "" "" "" "" "-" "0000016619" "00000662" "00" "941" "0" "941" "0" "c.941C>T" "" "p.(Thr314Ile)" "r.(?)" "" "" "" "" "" "-" "0000016619" "00000663" "00" "941" "0" "941" "0" "c.941C>T" "" "p.(Thr314Ile)" "r.(?)" "" "" "" "" "" "-" "0000016619" "00000664" "00" "1037" "0" "1037" "0" "c.1037C>T" "" "p.(Thr346Ile)" "r.(?)" "" "" "" "" "" "-" "0000016620" "00000660" "00" "919" "0" "919" "0" "c.919C>T" "" "p.(Gln307*)" "r.(?)" "" "" "" "" "" "-" "0000016620" "00000661" "00" "1015" "0" "1015" "0" "c.1015C>T" "" "p.(Gln339*)" "r.(?)" "" "" "" "" "" "-" "0000016620" "00000662" "00" "919" "0" "919" "0" "c.919C>T" "" "p.(Gln307*)" "r.(?)" "" "" "" "" "" "-" "0000016620" "00000663" "00" "919" "0" "919" "0" "c.919C>T" "" "p.(Gln307*)" "r.(?)" "" "" "" "" "" "-" "0000016620" "00000664" "00" "1015" "0" "1015" "0" "c.1015C>T" "" "p.(Gln339*)" "r.(?)" "" "" "" "" "" "-" "0000016621" "00000660" "00" "912" "0" "912" "0" "c.912C>G" "" "p.(Cys304Trp)" "r.(?)" "" "" "" "" "" "-" "0000016621" "00000661" "00" "1008" "0" "1008" "0" "c.1008C>G" "" "p.(Cys336Trp)" "r.(?)" "" "" "" "" "" "-" "0000016621" "00000662" "00" "912" "0" "912" "0" "c.912C>G" "" "p.(Cys304Trp)" "r.(?)" "" "" "" "" "" "-" "0000016621" "00000663" "00" "912" "0" "912" "0" "c.912C>G" "" "p.(Cys304Trp)" "r.(?)" "" "" "" "" "" "-" "0000016621" "00000664" "00" "1008" "0" "1008" "0" "c.1008C>G" "" "p.(Cys336Trp)" "r.(?)" "" "" "" "" "" "-" "0000016622" "00000660" "00" "823" "0" "823" "0" "c.823G>A" "" "p.(Ala275Thr)" "r.(?)" "" "" "" "" "" "-" "0000016622" "00000661" "00" "919" "0" "919" "0" "c.919G>A" "" "p.(Ala307Thr)" "r.(?)" "" "" "" "" "" "-" "0000016622" "00000662" "00" "823" "0" "823" "0" "c.823G>A" "" "p.(Ala275Thr)" "r.(?)" "" "" "" "" "" "-" "0000016622" "00000663" "00" "823" "0" "823" "0" "c.823G>A" "" "p.(Ala275Thr)" "r.(?)" "" "" "" "" "" "-" "0000016622" "00000664" "00" "919" "0" "919" "0" "c.919G>A" "" "p.(Ala307Thr)" "r.(?)" "" "" "" "" "" "-" "0000016623" "00000660" "00" "772" "-2" "772" "-2" "c.772-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016623" "00000661" "00" "868" "-2" "868" "-2" "c.868-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016623" "00000662" "00" "772" "-2" "772" "-2" "c.772-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016623" "00000663" "00" "772" "-2" "772" "-2" "c.772-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016623" "00000664" "00" "868" "-2" "868" "-2" "c.868-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016624" "00000660" "00" "727" "0" "727" "0" "c.727C>T" "" "p.(Arg243*)" "r.(?)" "" "" "" "" "" "-" "0000016624" "00000661" "00" "823" "0" "823" "0" "c.823C>T" "" "p.(Arg275*)" "r.(?)" "" "" "" "" "" "-" "0000016624" "00000662" "00" "727" "0" "727" "0" "c.727C>T" "" "p.(Arg243*)" "r.(?)" "" "" "" "" "" "-" "0000016624" "00000663" "00" "727" "0" "727" "0" "c.727C>T" "" "p.(Arg243*)" "r.(?)" "" "" "" "" "" "-" "0000016624" "00000664" "00" "823" "0" "823" "0" "c.823C>T" "" "p.(Arg275*)" "r.(?)" "" "" "" "" "" "-" "0000016625" "00000660" "00" "693" "1" "693" "1" "c.693+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016625" "00000661" "00" "789" "1" "789" "1" "c.789+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016625" "00000662" "00" "693" "1" "693" "1" "c.693+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016625" "00000663" "00" "693" "1" "693" "1" "c.693+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016625" "00000664" "00" "789" "1" "789" "1" "c.789+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016626" "00000660" "00" "548" "0" "549" "0" "c.548_549del" "" "p.(Val183Glufs*130)" "r.(?)" "" "" "" "" "" "-" "0000016626" "00000661" "00" "644" "0" "645" "0" "c.644_645del" "" "p.(Val215Glufs*130)" "r.(?)" "" "" "" "" "" "-" "0000016626" "00000662" "00" "548" "0" "549" "0" "c.548_549del" "" "p.(Val183Glufs*130)" "r.(?)" "" "" "" "" "" "-" "0000016626" "00000663" "00" "548" "0" "549" "0" "c.548_549del" "" "p.(Val183Glufs*130)" "r.(?)" "" "" "" "" "" "-" "0000016626" "00000664" "00" "644" "0" "645" "0" "c.644_645del" "" "p.(Val215Glufs*130)" "r.(?)" "" "" "" "" "" "-" "0000016627" "00000660" "00" "478" "0" "478" "0" "c.478C>T" "" "p.(Arg160*)" "r.(?)" "" "" "" "" "" "-" "0000016627" "00000661" "00" "574" "0" "574" "0" "c.574C>T" "" "p.(Arg192*)" "r.(?)" "" "" "" "" "" "-" "0000016627" "00000662" "00" "478" "0" "478" "0" "c.478C>T" "" "p.(Arg160*)" "r.(?)" "" "" "" "" "" "-" "0000016627" "00000663" "00" "478" "0" "478" "0" "c.478C>T" "" "p.(Arg160*)" "r.(?)" "" "" "" "" "" "-" "0000016627" "00000664" "00" "574" "0" "574" "0" "c.574C>T" "" "p.(Arg192*)" "r.(?)" "" "" "" "" "" "-" "0000016628" "00000660" "00" "367" "0" "367" "0" "c.367C>T" "" "p.(Arg123Cys)" "r.(?)" "" "" "" "" "" "-" "0000016628" "00000661" "00" "463" "0" "463" "0" "c.463C>T" "" "p.(Arg155Cys)" "r.(?)" "" "" "" "" "" "-" "0000016628" "00000662" "00" "367" "0" "367" "0" "c.367C>T" "" "p.(Arg123Cys)" "r.(?)" "" "" "" "" "" "-" "0000016628" "00000663" "00" "367" "0" "367" "0" "c.367C>T" "" "p.(Arg123Cys)" "r.(?)" "" "" "" "" "" "-" "0000016628" "00000664" "00" "463" "0" "463" "0" "c.463C>T" "" "p.(Arg155Cys)" "r.(?)" "" "" "" "" "" "-" "0000016629" "00000660" "00" "298" "0" "298" "0" "c.298C>T" "" "p.(Gln100*)" "r.(?)" "" "" "" "" "" "-" "0000016629" "00000661" "00" "394" "0" "394" "0" "c.394C>T" "" "p.(Gln132*)" "r.(?)" "" "" "" "" "" "-" "0000016629" "00000662" "00" "298" "0" "298" "0" "c.298C>T" "" "p.(Gln100*)" "r.(?)" "" "" "" "" "" "-" "0000016629" "00000663" "00" "298" "0" "298" "0" "c.298C>T" "" "p.(Gln100*)" "r.(?)" "" "" "" "" "" "-" "0000016629" "00000664" "00" "394" "0" "394" "0" "c.394C>T" "" "p.(Gln132*)" "r.(?)" "" "" "" "" "" "-" "0000016630" "00000660" "00" "282" "-1" "282" "-1" "c.282-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016630" "00000661" "00" "378" "-1" "378" "-1" "c.378-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016630" "00000662" "00" "282" "-1" "282" "-1" "c.282-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016630" "00000663" "00" "282" "-1" "282" "-1" "c.282-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016630" "00000664" "00" "378" "-1" "378" "-1" "c.378-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016631" "00000660" "00" "281" "1" "281" "1" "c.281+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016631" "00000661" "00" "377" "1" "377" "1" "c.377+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016631" "00000662" "00" "281" "1" "281" "1" "c.281+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016631" "00000663" "00" "281" "1" "281" "1" "c.281+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016631" "00000664" "00" "377" "1" "377" "1" "c.377+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016632" "00000660" "00" "222" "0" "222" "0" "c.222C>A" "" "p.(Tyr74*)" "r.(?)" "" "" "" "" "" "-" "0000016632" "00000661" "00" "318" "0" "318" "0" "c.318C>A" "" "p.(Tyr106*)" "r.(?)" "" "" "" "" "" "-" "0000016632" "00000662" "00" "222" "0" "222" "0" "c.222C>A" "" "p.(Tyr74*)" "r.(?)" "" "" "" "" "" "-" "0000016632" "00000663" "00" "222" "0" "222" "0" "c.222C>A" "" "p.(Tyr74*)" "r.(?)" "" "" "" "" "" "-" "0000016632" "00000664" "00" "318" "0" "318" "0" "c.318C>A" "" "p.(Tyr106*)" "r.(?)" "" "" "" "" "" "-" "0000016633" "00000660" "00" "186" "0" "186" "0" "c.186G>A" "" "p.(Trp62*)" "r.(?)" "" "" "" "" "" "-" "0000016633" "00000661" "00" "282" "0" "282" "0" "c.282G>A" "" "p.(Trp94*)" "r.(?)" "" "" "" "" "" "-" "0000016633" "00000662" "00" "186" "0" "186" "0" "c.186G>A" "" "p.(Trp62*)" "r.(?)" "" "" "" "" "" "-" "0000016633" "00000663" "00" "186" "0" "186" "0" "c.186G>A" "" "p.(Trp62*)" "r.(?)" "" "" "" "" "" "-" "0000016633" "00000664" "00" "282" "0" "282" "0" "c.282G>A" "" "p.(Trp94*)" "r.(?)" "" "" "" "" "" "-" "0000016634" "00000660" "00" "96" "0" "96" "0" "c.96T>G" "" "p.(Tyr32*)" "r.(?)" "" "" "" "" "" "-" "0000016634" "00000661" "00" "192" "0" "192" "0" "c.192T>G" "" "p.(Tyr64*)" "r.(?)" "" "" "" "" "" "-" "0000016634" "00000662" "00" "96" "0" "96" "0" "c.96T>G" "" "p.(Tyr32*)" "r.(?)" "" "" "" "" "" "-" "0000016634" "00000663" "00" "96" "0" "96" "0" "c.96T>G" "" "p.(Tyr32*)" "r.(?)" "" "" "" "" "" "-" "0000016634" "00000664" "00" "192" "0" "192" "0" "c.192T>G" "" "p.(Tyr64*)" "r.(?)" "" "" "" "" "" "-" "0000024138" "00000660" "00" "2235" "1838" "2235" "1838" "c.2235+1838G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024138" "00000661" "00" "2331" "1838" "2331" "1838" "c.2331+1838G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024138" "00000662" "00" "2236" "-1" "2236" "-1" "c.2236-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024138" "00000663" "00" "2236" "-1" "2236" "-1" "c.2236-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024138" "00000664" "00" "2332" "-1" "2332" "-1" "c.2332-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024139" "00000660" "00" "2028" "2" "2028" "2" "c.2028+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024139" "00000661" "00" "2124" "2" "2124" "2" "c.2124+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024139" "00000662" "00" "2028" "2" "2028" "2" "c.2028+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024139" "00000663" "00" "2028" "2" "2028" "2" "c.2028+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024139" "00000664" "00" "2124" "2" "2124" "2" "c.2124+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024140" "00000660" "00" "1876" "-1" "1876" "-1" "c.1876-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024140" "00000661" "00" "1972" "-1" "1972" "-1" "c.1972-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024140" "00000662" "00" "1876" "-1" "1876" "-1" "c.1876-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024140" "00000663" "00" "1876" "-1" "1876" "-1" "c.1876-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024140" "00000664" "00" "1972" "-1" "1972" "-1" "c.1972-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024141" "00000660" "00" "1875" "10" "1875" "33" "c.1875+10_1875+33del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024141" "00000661" "00" "1971" "10" "1971" "33" "c.1971+10_1971+33del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024141" "00000662" "00" "1875" "10" "1875" "33" "c.1875+10_1875+33del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024141" "00000663" "00" "1875" "10" "1875" "33" "c.1875+10_1875+33del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024141" "00000664" "00" "1971" "10" "1971" "33" "c.1971+10_1971+33del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024142" "00000660" "00" "1576" "-2" "1576" "-2" "c.1576-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024142" "00000661" "00" "1672" "-2" "1672" "-2" "c.1672-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024142" "00000662" "00" "1576" "-2" "1576" "-2" "c.1576-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024142" "00000663" "00" "1576" "-2" "1576" "-2" "c.1576-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024142" "00000664" "00" "1672" "-2" "1672" "-2" "c.1672-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024143" "00000660" "00" "1575" "1" "1575" "1" "c.1575+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024143" "00000661" "00" "1671" "1" "1671" "1" "c.1671+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024143" "00000662" "00" "1575" "1" "1575" "1" "c.1575+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024143" "00000663" "00" "1575" "1" "1575" "1" "c.1575+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024143" "00000664" "00" "1671" "1" "1671" "1" "c.1671+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024144" "00000660" "00" "1458" "1" "1458" "1" "c.1458+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024144" "00000661" "00" "1554" "1" "1554" "1" "c.1554+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024144" "00000662" "00" "1458" "1" "1458" "1" "c.1458+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024144" "00000663" "00" "1458" "1" "1458" "1" "c.1458+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024144" "00000664" "00" "1554" "1" "1554" "1" "c.1554+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024145" "00000660" "00" "1393" "0" "1393" "0" "c.1393G>A" "" "p.(Gly465Arg)" "r.(?)" "" "" "" "" "" "-" "0000024145" "00000661" "00" "1489" "0" "1489" "0" "c.1489G>A" "" "p.(Gly497Arg)" "r.(?)" "" "" "" "" "" "-" "0000024145" "00000662" "00" "1393" "0" "1393" "0" "c.1393G>A" "" "p.(Gly465Arg)" "r.(?)" "" "" "" "" "" "-" "0000024145" "00000663" "00" "1393" "0" "1393" "0" "c.1393G>A" "" "p.(Gly465Arg)" "r.(?)" "" "" "" "" "" "-" "0000024145" "00000664" "00" "1489" "0" "1489" "0" "c.1489G>A" "" "p.(Gly497Arg)" "r.(?)" "" "" "" "" "" "-" "0000024146" "00000660" "00" "1367" "0" "1367" "0" "c.1367C>T" "" "p.(Ser456Leu)" "r.(?)" "" "" "" "" "" "-" "0000024146" "00000661" "00" "1463" "0" "1463" "0" "c.1463C>T" "" "p.(Ser488Leu)" "r.(?)" "" "" "" "" "" "-" "0000024146" "00000662" "00" "1367" "0" "1367" "0" "c.1367C>T" "" "p.(Ser456Leu)" "r.(?)" "" "" "" "" "" "-" "0000024146" "00000663" "00" "1367" "0" "1367" "0" "c.1367C>T" "" "p.(Ser456Leu)" "r.(?)" "" "" "" "" "" "-" "0000024146" "00000664" "00" "1463" "0" "1463" "0" "c.1463C>T" "" "p.(Ser488Leu)" "r.(?)" "" "" "" "" "" "-" "0000024147" "00000660" "00" "1348" "0" "1352" "4" "c.1348_1352+4del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024147" "00000661" "00" "1444" "0" "1448" "4" "c.1444_1448+4del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024147" "00000662" "00" "1348" "0" "1352" "4" "c.1348_1352+4del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024147" "00000663" "00" "1348" "0" "1352" "4" "c.1348_1352+4del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024147" "00000664" "00" "1444" "0" "1448" "4" "c.1444_1448+4del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024148" "00000660" "00" "1274" "0" "1276" "0" "c.1274_1276del" "" "p.(Glu425del)" "r.(?)" "" "" "" "" "" "-" "0000024148" "00000661" "00" "1370" "0" "1372" "0" "c.1370_1372del" "" "p.(Glu457del)" "r.(?)" "" "" "" "" "" "-" "0000024148" "00000662" "00" "1274" "0" "1276" "0" "c.1274_1276del" "" "p.(Glu425del)" "r.(?)" "" "" "" "" "" "-" "0000024148" "00000663" "00" "1274" "0" "1276" "0" "c.1274_1276del" "" "p.(Glu425del)" "r.(?)" "" "" "" "" "" "-" "0000024148" "00000664" "00" "1370" "0" "1372" "0" "c.1370_1372del" "" "p.(Glu457del)" "r.(?)" "" "" "" "" "" "-" "0000024149" "00000660" "00" "1163" "2" "1163" "2" "c.1163+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024149" "00000661" "00" "1259" "2" "1259" "2" "c.1259+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024149" "00000662" "00" "1163" "2" "1163" "2" "c.1163+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024149" "00000663" "00" "1163" "2" "1163" "2" "c.1163+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024149" "00000664" "00" "1259" "2" "1259" "2" "c.1259+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024150" "00000660" "00" "967" "2" "967" "2" "c.967+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024150" "00000661" "00" "1063" "2" "1063" "2" "c.1063+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024150" "00000662" "00" "967" "2" "967" "2" "c.967+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024150" "00000663" "00" "967" "2" "967" "2" "c.967+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024150" "00000664" "00" "1063" "2" "1063" "2" "c.1063+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024151" "00000660" "00" "772" "-1" "772" "-1" "c.772-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024151" "00000661" "00" "868" "-1" "868" "-1" "c.868-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024151" "00000662" "00" "772" "-1" "772" "-1" "c.772-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024151" "00000663" "00" "772" "-1" "772" "-1" "c.772-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024151" "00000664" "00" "868" "-1" "868" "-1" "c.868-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024152" "00000660" "00" "771" "1" "771" "1" "c.771+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024152" "00000661" "00" "867" "1" "867" "1" "c.867+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024152" "00000662" "00" "771" "1" "771" "1" "c.771+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024152" "00000663" "00" "771" "1" "771" "1" "c.771+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024152" "00000664" "00" "867" "1" "867" "1" "c.867+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024153" "00000660" "00" "694" "-2" "694" "-2" "c.694-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024153" "00000661" "00" "790" "-2" "790" "-2" "c.790-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024153" "00000662" "00" "694" "-2" "694" "-2" "c.694-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024153" "00000663" "00" "694" "-2" "694" "-2" "c.694-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024153" "00000664" "00" "790" "-2" "790" "-2" "c.790-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024154" "00000660" "00" "693" "1" "693" "1" "c.693+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024154" "00000661" "00" "789" "1" "789" "1" "c.789+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024154" "00000662" "00" "693" "1" "693" "1" "c.693+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024154" "00000663" "00" "693" "1" "693" "1" "c.693+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024154" "00000664" "00" "789" "1" "789" "1" "c.789+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024155" "00000660" "00" "200" "0" "202" "0" "c.200_202del" "" "p.(Val67del)" "r.(?)" "" "" "" "" "" "-" "0000024155" "00000661" "00" "296" "0" "298" "0" "c.296_298del" "" "p.(Val99del)" "r.(?)" "" "" "" "" "" "-" "0000024155" "00000662" "00" "200" "0" "202" "0" "c.200_202del" "" "p.(Val67del)" "r.(?)" "" "" "" "" "" "-" "0000024155" "00000663" "00" "200" "0" "202" "0" "c.200_202del" "" "p.(Val67del)" "r.(?)" "" "" "" "" "" "-" "0000024155" "00000664" "00" "296" "0" "298" "0" "c.296_298del" "" "p.(Val99del)" "r.(?)" "" "" "" "" "" "-" "0000024156" "00000660" "00" "100" "0" "100" "0" "c.100T>C" "" "p.(Ser34Pro)" "r.(?)" "" "" "" "" "" "-" "0000024156" "00000661" "00" "196" "0" "196" "0" "c.196T>C" "" "p.(Ser66Pro)" "r.(?)" "" "" "" "" "" "-" "0000024156" "00000662" "00" "100" "0" "100" "0" "c.100T>C" "" "p.(Ser34Pro)" "r.(?)" "" "" "" "" "" "-" "0000024156" "00000663" "00" "100" "0" "100" "0" "c.100T>C" "" "p.(Ser34Pro)" "r.(?)" "" "" "" "" "" "-" "0000024156" "00000664" "00" "196" "0" "196" "0" "c.196T>C" "" "p.(Ser66Pro)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0