### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACADVL) # 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}}" "ACADVL" "acyl-CoA dehydrogenase, very long chain" "17" "p13.1" "unknown" "NC_000017.10" "UD_134408452904" "" "" "" "1" "1" "92" "37" "609575" "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 = 4 "{{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}}" "00000388" "ACADVL" "transcript variant 3" "001" "NM_001270447.1" "" "NP_001257376.1" "" "" "" "-21" "2207" "2037" "7120444" "7128586" "00001" "2013-11-12 21:26:37" "" "" "" "17" "00000389" "ACADVL" "transcript variant 4" "002" "NM_001270448.1" "" "NP_001257377.1" "" "" "" "-457" "1910" "1740" "7123150" "7128586" "00001" "2013-11-12 21:26:37" "" "" "" "17" "00000390" "ACADVL" "transcript variant 1" "003" "NM_000018.3" "" "NP_000009.1" "" "" "" "-154" "2138" "1968" "7123150" "7128586" "00001" "2013-11-12 21:26:37" "" "" "" "17" "00000391" "ACADVL" "transcript variant 2" "004" "NM_001033859.2" "" "NP_001029031.1" "" "" "" "-154" "2072" "1902" "7123150" "7128586" "00001" "2013-11-12 21:26:37" "" "" "" "17" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00436" "ACADVLD" "ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD" "201475" "" "" "" "00001" "2014-04-10 15:30:00" "" "" "" "00464" "201460" "MOVED TO 201475" "201460" "" "" "" "00001" "2014-04-10 15:30:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ACADVL" "00436" "ACADVL" "00464" ## 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 = 366 "{{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}}" "0000000672" "0" "11" "17" "7123352" "7123352" "subst" "35" "0.021803" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-07-17 22:21:18" "ACADVL_000030" "g.7123352C>T" "" "{PMID:20301763:20301763}" "" "rs2230179" "subst" "0" "; clinvar;" "-4.660" "" "" "" "" "MSCV_0000672" "" "0000000673" "0" "11" "17" "7123446" "7123446" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 16:41:14" "ACADVL_000031" "g.7123446G>A" "" "{PMID:20301763:20301763}" "" "rs34153370" "subst" "0" "; clinvar;" "2.680" "" "" "" "" "MSCV_0000673" "" "0000000674" "0" "11" "17" "7123506" "7123506" "subst" "51" "0.0113535" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 22:20:04" "ACADVL_000024" "g.7123506G>A" "" "{PMID:20301763:20301763}" "" "rs2230178" "subst" "0" "; clinvar;" "0.591" "" "" "" "" "MSCV_0000674" "" "0000000675" "0" "11" "17" "7123838" "7123838" "subst" "51" "0.0338305" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 22:20:05" "ACADVL_000025" "g.7123838C>T" "" "{PMID:10790204:10790204};{PMID:20301763:20301763};{PMID:23757202:23757202}" "" "rs28934585" "subst" "0" "; clinvar;" "-7.830" "" "" "" "" "MSCV_0000675" "" "0000000676" "0" "00" "17" "7123991" "7123991" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 16:48:56" "ACADVL_000026" "g.7123991del" "" "" "" "" "del" "0" ";" "-11.300" "" "" "" "" "MSCV_0000676" "" "0000000677" "0" "55" "17" "7124126" "7124128" "del" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 22:20:06" "ACADVL_000027" "g.7124126_7124128del" "" "" "" "" "del" "0" ";" "" "" "" "" "" "MSCV_0000677" "" "0000000678" "0" "99" "17" "7124242" "7124242" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 16:30:45" "ACADVL_000028" "g.7124242del" "" "{PMID:23757202:23757202};{PMID:7479827:7479827}" "" "rs387906249" "del" "0" "; clinvar;" "4.280" "" "" "" "" "MSCV_0000678" "" "0000000679" "0" "55" "17" "7124285" "7124287" "del" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 22:20:06" "ACADVL_000029" "g.7124285_7124287del" "" "{PMID:8554073:8554073}" "" "rs387906251" "del" "0" ";" "" "" "" "" "" "MSCV_0000679" "" "0000000680" "0" "99" "17" "7125387" "7125387" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 16:49:02" "ACADVL_000013" "g.7125387A>C" "" "{PMID:10790204:10790204}" "" "rs387906253" "subst" "0" "; clinvar;" "4.440" "" "" "" "" "MSCV_0000680" "" "0000000681" "0" "99" "17" "7125522" "7125522" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-11-11 05:55:04" "ACADVL_000014" "g.7125522C>T" "" "{PMID:20301763:20301763}" "" "rs113994168" "subst" "0" "; clinvar;" "4.250" "" "" "" "" "MSCV_0000681" "" "0000000682" "0" "55" "17" "7125569" "7125571" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 15:40:18" "ACADVL_000015" "g.7125569_7125571del" "" "" "" "" "del" "0" ";" "" "" "" "" "" "MSCV_0000682" "" "0000000683" "0" "99" "17" "7125591" "7125591" "subst" "51" "0.000922651" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-05-24 16:58:22" "ACADVL_000016" "g.7125591T>C" "" "{PMID:20301763:20301763};{PMID:17374501:17374501};{PMID:23757202:23757202};{PMID:8845838:8845838}" "" "rs113994167" "subst" "0" "; clinvar;" "5.220" "" "" "" "" "MSCV_0000683" "" "0000000684" "0" "55" "17" "7125999" "7126001" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 16:40:40" "ACADVL_000017" "g.7125999_7126001del" "" "{PMID:8554073:8554073};{PMID:23757202:23757202}" "" "rs387906252" "del" "0" ";" "" "" "" "" "" "MSCV_0000684" "" "0000000685" "0" "55" "17" "7126076" "7126076" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 15:40:45" "ACADVL_000018" "g.7126076G>A" "" "" "" "" "subst" "0" ";" "1.990" "" "" "" "" "MSCV_0000685" "" "0000000686" "0" "11" "17" "7126145" "7126145" "subst" "35" "0.0244503" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-03-01 01:57:12" "ACADVL_000019" "g.7126145G>A" "" "{PMID:20301763:20301763};{PMID:23757202:23757202}" "" "rs8064573" "subst" "0" "; clinvar;" "-11.200" "" "" "" "" "MSCV_0000686" "" "0000000687" "0" "99" "17" "7126518" "7126518" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:45:54" "ACADVL_000020" "g.7126518A>C" "" "{PMID:8554073:8554073}" "" "rs118204015" "subst" "0" "; clinvar;" "5.620" "" "" "" "" "MSCV_0000687" "" "0000000688" "0" "99" "17" "7127006" "7127006" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:45:55" "ACADVL_000021" "g.7127006C>T" "" "{PMID:20301763:20301763}" "" "rs113994169" "subst" "0" "; clinvar;" "2.640" "" "" "" "" "MSCV_0000688" "" "0000000689" "0" "99" "17" "7127026" "7127026" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-07 19:26:22" "ACADVL_000022" "g.7127026G>A" "" "{PMID:11158518:11158518}" "" "rs118204018" "subst" "0" "; clinvar;" "5.810" "" "" "" "" "MSCV_0000689" "" "0000000690" "0" "55" "17" "7127033" "7127033" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:45:56" "ACADVL_000023" "g.7127033G>A" "" "" "" "" "subst" "0" ";" "5.810" "" "" "" "" "MSCV_0000690" "" "0000000691" "0" "77" "17" "7127142" "7127142" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:53" "ACADVL_000001" "g.7127142G>A" "" "" "" "NA" "subst" "0" ";" "5.640" "" "" "" "" "MSCV_0000691" "" "0000000692" "0" "11" "17" "7127146" "7127146" "subst" "35" "0.00107643" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:54" "ACADVL_000002" "g.7127146G>A" "" "{PMID:20301763:20301763}" "" "rs35501596" "subst" "0" ";" "-3.850" "" "" "" "" "MSCV_0000692" "" "0000000693" "0" "99" "17" "7127184" "7127184" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-05-31 09:02:17" "ACADVL_000003" "g.7127184G>A" "" "{PMID:20301763:20301763};{PMID:20060901:20060901};{PMID:9546340:9546340};{PMID:23757202:23757202};{PMID:8845838:8845838}" "" "rs2309689" "subst" "0" "; clinvar;" "5.770" "" "" "" "" "MSCV_0000693" "" "0000000694" "0" "00" "17" "7127290" "7127290" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:55" "ACADVL_000004" "g.7127290C>T" "" "" "" "NA" "subst" "0" ";" "0.700" "" "" "" "" "MSCV_0000694" "" "0000000695" "0" "99" "17" "7127303" "7127303" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-03-25 06:47:14" "ACADVL_000005" "g.7127303G>A" "" "{PMID:11158518:11158518}" "" "rs118204016" "subst" "0" "; clinvar;" "4.760" "" "" "" "" "MSCV_0000695" "" "0000000696" "0" "99" "17" "7127326" "7127326" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:56" "ACADVL_000006" "g.7127326T>C" "" "{PMID:9709714:9709714}" "" "rs118204017" "subst" "0" "; clinvar;" "5.740" "" "" "" "" "MSCV_0000696" "" "0000000697" "0" "99" "17" "7127359" "7127359" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:57" "ACADVL_000007" "g.7127359C>T" "" "{PMID:20301763:20301763}" "" "rs113994170" "subst" "0" "; clinvar;" "3.550" "" "" "" "" "MSCV_0000697" "" "0000000698" "0" "11" "17" "7127707" "7127707" "subst" "35" "0.0103029" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:58" "ACADVL_000008" "g.7127707G>A" "" "{PMID:23757202:23757202};{PMID:20301763:20301763}" "" "rs2230180" "subst" "0" "; clinvar;" "0.640" "" "" "" "" "MSCV_0000698" "" "0000000699" "0" "99" "17" "7127955" "7127955" "subst" "35" "0.0000782595" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-07-07 11:58:19" "ACADVL_000009" "g.7127955G>A" "" "{PMID:20301763:20301763}" "" "rs113994171" "subst" "0" "; clinvar;" "1.580" "" "" "" "" "MSCV_0000699" "" "0000000700" "0" "99" "17" "7128285" "7128285" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-07 05:05:07" "ACADVL_000010" "g.7128285C>T" "" "{PMID:8554073:8554073}" "" "rs118204014" "subst" "0" "; clinvar;" "5.740" "" "" "" "" "MSCV_0000700" "" "0000000701" "0" "55" "17" "7128344" "7128344" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-04-29 07:58:13" "ACADVL_000011" "g.7128344C>T" "" "" "" "" "subst" "0" ";" "-12.000" "" "" "" "" "MSCV_0000701" "" "0000000702" "0" "11" "17" "7128413" "7128413" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-03-13 22:26:03" "ACADVL_000012" "g.7128413C>T" "" "{PMID:20301763:20301763}" "" "rs9674" "subst" "0" ";" "5.980" "" "" "" "" "MSCV_0000702" "" "0000002630" "0" "55" "17" "7123340" "7123340" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 12:44:36" "ACADVL_000039" "g.7123340C>T" "" "" "" "rs63750670" "subst" "0" "; Ensembl;" "4.880" "" "" "" "" "MSCV_0002630" "" "0000002638" "0" "55" "17" "7125285" "7125285" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-02-28 14:28:07" "ACADVL_000035" "g.7125285G>C" "" "" "" "rs140629318" "subst" "0" "; Ensembl;" "5.730" "" "" "" "" "MSCV_0002638" "" "0000002643" "0" "55" "17" "7125988" "7125988" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 12:48:30" "ACADVL_000036" "g.7125988G>A" "" "" "" "rs200573371" "subst" "0" "; Ensembl;" "5.090" "" "" "" "" "MSCV_0002643" "" "0000002647" "0" "55" "17" "7126471" "7126471" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-03-01 02:27:45" "ACADVL_000037" "g.7126471G>A" "" "" "" "rs112406105" "subst" "0" "; Ensembl;" "4.660" "" "" "" "" "MSCV_0002647" "" "0000002648" "0" "55" "17" "7126471" "7126471" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-03-01 02:27:51" "ACADVL_000038" "g.7126471G>C" "" "" "" "rs112406105" "subst" "0" "; Ensembl;" "4.660" "" "" "" "" "MSCV_0002648" "" "0000002655" "0" "55" "17" "7127312" "7127312" "subst" "35" "0.000153775" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2016-02-09 18:27:19" "ACADVL_000032" "g.7127312G>A" "" "" "" "rs138058572" "subst" "0" "; Ensembl;" "5.740" "" "" "" "" "MSCV_0002655" "" "0000002657" "0" "55" "17" "7127342" "7127342" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-09-06 11:42:39" "ACADVL_000033" "g.7127342G>A" "" "" "" "rs200366828" "subst" "0" "; Ensembl;" "5.740" "" "" "" "" "MSCV_0002657" "" "0000002662" "0" "55" "17" "7128292" "7128292" "subst" "35" "0.00253729" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2020-05-05 11:16:47" "ACADVL_000034" "g.7128292G>A" "" "" "" "rs148584617" "subst" "0" "; Ensembl;" "0.885" "" "" "" "" "MSCV_0002662" "" "0000005191" "0" "99" "17" "7125522" "7125522" "subst" "35" "0.0000768876" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2021-06-18 08:27:09" "ACADVL_000014" "g.7125522C>T" "" "{PMID:20301763:20301763}" "" "rs113994168" "subst" "0" "; ensembl;" "4.250" "" "" "" "" "MSCV_0005191" "" "0000005192" "0" "99" "17" "7125591" "7125591" "subst" "35" "0.000922651" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2019-06-23 13:20:46" "ACADVL_000016" "g.7125591T>C" "" "{PMID:20301763:20301763};{PMID:17374501:17374501};{PMID:23757202:23757202};{PMID:8845838:8845838}" "" "rs113994167" "subst" "0" "; ensembl;" "5.220" "" "" "" "" "MSCV_0005192" "" "0000005193" "0" "99" "17" "7126518" "7126518" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2015-03-12 18:08:17" "ACADVL_000020" "g.7126518A>C" "" "{PMID:8554073:8554073}" "" "rs118204015" "subst" "0" "; ensembl;" "5.620" "" "" "" "" "MSCV_0005193" "" "0000005194" "0" "99" "17" "7127006" "7127006" "subst" "51" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2021-05-24 16:58:22" "ACADVL_000021" "g.7127006C>T" "" "{PMID:20301763:20301763}" "" "rs113994169" "subst" "0" "; ensembl;" "2.640" "" "" "" "" "MSCV_0005194" "" "0000005195" "0" "99" "17" "7127184" "7127184" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2018-09-06 17:13:49" "ACADVL_000003" "g.7127184G>A" "" "{PMID:20301763:20301763};{PMID:20060901:20060901};{PMID:9546340:9546340};{PMID:23757202:23757202};{PMID:8845838:8845838}" "" "rs2309689" "subst" "0" "; ensembl;" "5.770" "" "" "" "" "MSCV_0005195" "" "0000005196" "0" "99" "17" "7127303" "7127303" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2021-06-02 05:42:09" "ACADVL_000005" "g.7127303G>A" "" "{PMID:11158518:11158518}" "" "rs118204016" "subst" "0" "; ensembl;" "4.760" "" "" "" "" "MSCV_0005196" "" "0000005197" "0" "99" "17" "7127326" "7127326" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2015-03-12 18:08:06" "ACADVL_000006" "g.7127326T>C" "" "{PMID:9709714:9709714}" "" "rs118204017" "subst" "0" "; ensembl;" "5.740" "" "" "" "" "MSCV_0005197" "" "0000005198" "0" "99" "17" "7127359" "7127359" "subst" "35" "0.0000768876" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2015-03-12 18:08:08" "ACADVL_000007" "g.7127359C>T" "" "{PMID:20301763:20301763}" "" "rs113994170" "subst" "0" "; ensembl;" "3.550" "" "" "" "" "MSCV_0005198" "" "0000005199" "0" "11" "17" "7127707" "7127707" "subst" "35" "0.0103029" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2019-06-14 19:06:58" "ACADVL_000008" "g.7127707G>A" "" "{PMID:23757202:23757202};{PMID:20301763:20301763}" "" "rs2230180" "subst" "0" "; ensembl;" "0.640" "" "" "" "" "MSCV_0005199" "" "0000005200" "0" "99" "17" "7127955" "7127955" "subst" "51" "0.0000782595" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2021-05-24 16:58:23" "ACADVL_000009" "g.7127955G>A" "" "{PMID:20301763:20301763}" "" "rs113994171" "subst" "0" "; ensembl;" "1.580" "" "" "" "" "MSCV_0005200" "" "0000005201" "0" "99" "17" "7128285" "7128285" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2015-03-12 18:07:44" "ACADVL_000010" "g.7128285C>T" "" "{PMID:8554073:8554073}" "" "rs118204014" "subst" "0" "; ensembl;" "5.740" "" "" "" "" "MSCV_0005201" "" "0000017988" "0" "55" "17" "7123172" "7123172" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-04-03 01:41:30" "DLG4_000005" "g.7123172C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017988" "" "0000017989" "0" "11" "17" "7123240" "7123241" "ins" "51" "0.451721" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-29 11:14:05" "DLG4_000003" "g.7123240_7123241insGGGCGTGCAGGACGC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017989" "" "0000017990" "0" "55" "17" "7123240" "7123240" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:18:07" "DLG4_000002" "g.7123240T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017990" "" "0000017991" "0" "77" "17" "7123268" "7123268" "subst" "35" "0.00171446" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:51:15" "DLG4_000004" "g.7123268A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017991" "" "0000017992" "0" "33" "17" "7123352" "7123352" "subst" "35" "0.021803" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:27:46" "ACADVL_000030" "g.7123352C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000672" "" "0000017993" "0" "33" "17" "7123357" "7123357" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:51:07" "DLG4_000001" "g.7123357G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017993" "" "0000017994" "0" "77" "17" "7123439" "7123439" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 12:44:36" "ACADVL_000174" "g.7123439A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017994" "" "0000017995" "0" "99" "17" "7123443" "7123443" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:28:04" "ACADVL_000175" "g.7123443C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017995" "" "0000017996" "0" "33" "17" "7123446" "7123446" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 12:44:36" "ACADVL_000031" "g.7123446G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000673" "" "0000017997" "0" "55" "17" "7123464" "7123464" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:30:52" "ACADVL_000176" "g.7123464G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017997" "" "0000017998" "0" "00" "17" "7123474" "7123483" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 12:44:36" "ACADVL_000129" "g.7123474_7123483del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017998" "" "0000017999" "0" "99" "17" "7123480" "7123480" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:28:48" "ACADVL_000130" "g.7123480del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017999" "" "0000018000" "0" "55" "17" "7123487" "7123487" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-07-17 19:54:19" "ACADVL_000131" "g.7123487C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018000" "" "0000018001" "0" "33" "17" "7123506" "7123506" "subst" "35" "0.0113535" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:26:38" "ACADVL_000024" "g.7123506G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000674" "" "0000018002" "0" "77" "17" "7123518" "7123518" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 22:20:05" "ACADVL_000085" "g.7123518T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018002" "" "0000018003" "0" "55" "17" "7123824" "7123824" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 22:20:05" "ACADVL_000086" "g.7123824G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018003" "" "0000018004" "0" "33" "17" "7123838" "7123838" "subst" "35" "0.0338305" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:40:28" "ACADVL_000025" "g.7123838C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000675" "" "0000018005" "0" "55" "17" "7123915" "7123915" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 22:20:05" "ACADVL_000049" "g.7123915C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018005" "" "0000018006" "0" "55" "17" "7123916" "7123916" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:26:00" "ACADVL_000051" "g.7123916T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018006" "" "0000018007" "0" "77" "17" "7123996" "7123996" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-29 11:14:05" "ACADVL_000053" "g.7123996G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018007" "" "0000018008" "0" "55" "17" "7124001" "7124001" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:28:36" "ACADVL_000055" "g.7124001G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018008" "" "0000018009" "0" "55" "17" "7124085" "7124085" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-29 11:14:05" "ACADVL_000057" "g.7124085T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018009" "" "0000018010" "0" "00" "17" "7124102" "7124103" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 14:29:02" "ACADVL_000059" "g.7124102_7124103del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018010" "" "0000018011" "0" "11" "17" "7124114" "7124115" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-01 09:08:28" "ACADVL_000061" "g.7124114_7124115del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018011" "" "0000018012" "0" "11" "17" "7124115" "7124115" "subst" "35" "0.0043057" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:22:19" "ACADVL_000063" "g.7124115A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018012" "" "0000018013" "0" "55" "17" "7124132" "7124132" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 22:20:06" "ACADVL_000064" "g.7124132G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018013" "" "0000018014" "0" "55" "17" "7124146" "7124146" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:23:07" "ACADVL_000065" "g.7124146C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018014" "" "0000018015" "0" "55" "17" "7124147" "7124147" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 22:20:06" "ACADVL_000068" "g.7124147G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018015" "" "0000018016" "0" "99" "17" "7124150" "7124150" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-01 00:55:16" "ACADVL_000070" "g.7124150G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018016" "" "0000018017" "0" "99" "17" "7124242" "7124242" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:30:35" "ACADVL_000028" "g.7124242del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000678" "" "0000018018" "0" "00" "17" "7124284" "7124286" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-07-06 09:43:20" "ACADVL_000073" "g.7124284_7124286del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018018" "" "0000018019" "0" "55" "17" "7124285" "7124285" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 22:20:06" "ACADVL_000074" "g.7124285G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018019" "" "0000018020" "0" "33" "17" "7124293" "7124293" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 22:20:06" "ACADVL_000075" "g.7124293C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018020" "" "0000018021" "0" "55" "17" "7124331" "7124331" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-29 11:14:05" "ACADVL_000077" "g.7124331T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018021" "" "0000018022" "0" "77" "17" "7124333" "7124333" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:50:42" "ACADVL_000079" "g.7124333C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018022" "" "0000018023" "0" "77" "17" "7124856" "7124856" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:51:03" "ACADVL_000080" "g.7124856G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018023" "" "0000018024" "0" "55" "17" "7124860" "7124860" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:27:49" "ACADVL_000081" "g.7124860G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018024" "" "0000018025" "0" "77" "17" "7124876" "7124877" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-07-06 07:35:47" "ACADVL_000040" "g.7124876_7124877del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018025" "" "0000018026" "0" "99" "17" "7124899" "7124899" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 14:29:17" "ACADVL_000041" "g.7124899G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018026" "" "0000018027" "0" "55" "17" "7124921" "7124921" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:40:52" "ACADVL_000042" "g.7124921A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018027" "" "0000018028" "0" "99" "17" "7124932" "7124932" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:47:40" "ACADVL_000043" "g.7124932G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018028" "" "0000018029" "0" "55" "17" "7124954" "7124954" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:22:43" "ACADVL_000044" "g.7124954T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018029" "" "0000018030" "0" "77" "17" "7125263" "7125263" "subst" "35" "0.0103798" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:27:34" "ACADVL_000045" "g.7125263C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018030" "" "0000018031" "0" "77" "17" "7125284" "7125284" "subst" "35" "0.00561279" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:50:55" "ACADVL_000046" "g.7125284C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018031" "" "0000018032" "0" "99" "17" "7125285" "7125285" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:47:54" "ACADVL_000047" "g.7125285G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018032" "" "0000018033" "0" "00" "17" "7125289" "7125292" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:27:09" "ACADVL_000050" "g.7125289_7125292del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018033" "" "0000018034" "0" "55" "17" "7125288" "7125288" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:50:59" "ACADVL_000048" "g.7125288T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018034" "" "0000018035" "0" "55" "17" "7125300" "7125300" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 14:29:21" "ACADVL_000052" "g.7125300G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018035" "" "0000018036" "0" "77" "17" "7125312" "7125312" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:48:29" "ACADVL_000054" "g.7125312G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018036" "" "0000018037" "0" "99" "17" "7125333" "7125333" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:26:58" "ACADVL_000056" "g.7125333C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018037" "" "0000018038" "0" "77" "17" "7125341" "7125341" "subst" "35" "0.00568968" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-07-06 07:45:15" "ACADVL_000058" "g.7125341T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018038" "" "0000018039" "0" "77" "17" "7125356" "7125357" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:41:03" "ACADVL_000060" "g.7125356_7125357del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018039" "" "0000018040" "0" "55" "17" "7125384" "7125384" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:26:50" "ACADVL_000062" "g.7125384A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018040" "" "0000018041" "0" "00" "17" "7125387" "7125387" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:50:25" "ACADVL_000013" "g.7125387A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000680" "" "0000018042" "0" "55" "17" "7125399" "7125399" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:39:54" "ACADVL_000066" "g.7125399A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018042" "" "0000018043" "0" "33" "17" "7125469" "7125469" "subst" "35" "0.00299862" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:27:55" "ACADVL_000067" "g.7125469C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018043" "" "0000018044" "0" "99" "17" "7125494" "7125494" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 14:29:25" "ACADVL_000069" "g.7125494A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018044" "" "0000018045" "0" "33" "17" "7125499" "7125499" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:50:29" "ACADVL_000071" "g.7125499T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018045" "" "0000018046" "0" "55" "17" "7125500" "7125500" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:23:24" "ACADVL_000072" "g.7125500G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018046" "" "0000018047" "0" "99" "17" "7125522" "7125522" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:26:15" "ACADVL_000014" "g.7125522C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000681" "" "0000018048" "0" "77" "17" "7125541" "7125544" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:41:22" "ACADVL_000076" "g.7125541_7125544del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018048" "" "0000018049" "0" "77" "17" "7125561" "7125561" "subst" "35" "0.00130709" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:51:24" "ACADVL_000078" "g.7125561G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018049" "" "0000018050" "0" "00" "17" "7125566" "7125589" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:27:05" "ACADVL_000082" "g.7125566_7125589del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018050" "" "0000018051" "0" "00" "17" "7125570" "7125572" "del" "35" "0.000239655" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:49:09" "ACADVL_000083" "g.7125570_7125572del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018051" "" "0000018052" "0" "00" "17" "7125573" "7125575" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:23:40" "ACADVL_000084" "g.7125573_7125575del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018052" "" "0000018053" "0" "99" "17" "7125591" "7125591" "subst" "35" "0.000922651" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:28:00" "ACADVL_000016" "g.7125591T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000683" "" "0000018054" "0" "99" "17" "7125607" "7125607" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:40:25" "ACADVL_000087" "g.7125607del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018054" "" "0000018055" "0" "99" "17" "7125607" "7125608" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:22:30" "ACADVL_000089" "g.7125607_7125608insG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018055" "" "0000018056" "0" "33" "17" "7125607" "7125607" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:24:51" "ACADVL_000088" "g.7125607C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018056" "" "0000018057" "0" "99" "17" "7125608" "7125608" "subst" "35" "0.00030755" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:39:42" "ACADVL_000090" "g.7125608G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018057" "" "0000018058" "0" "77" "17" "7125987" "7125988" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:27:18" "ACADVL_000091" "g.7125987_7125988insGGCC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018058" "" "0000018059" "0" "77" "17" "7125988" "7125988" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:26:04" "ACADVL_000036" "g.7125988G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0002643" "" "0000018060" "0" "99" "17" "7125994" "7125995" "del" "35" "0.00047931" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:25:05" "ACADVL_000092" "g.7125994_7125995del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018060" "" "0000018061" "0" "77" "17" "7125997" "7125999" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 14:29:06" "ACADVL_000093" "g.7125997_7125999del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018061" "" "0000018062" "0" "77" "17" "7125998" "7125998" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:30:55" "ACADVL_000094" "g.7125998del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018062" "" "0000018063" "0" "55" "17" "7126054" "7126054" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 17:00:21" "ACADVL_000095" "g.7126054G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018063" "" "0000018064" "0" "77" "17" "7126060" "7126060" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:27:30" "ACADVL_000096" "g.7126060C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018064" "" "0000018065" "0" "55" "17" "7126076" "7126076" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:30:42" "ACADVL_000018" "g.7126076G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000685" "" "0000018066" "0" "55" "17" "7126101" "7126101" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:50:51" "ACADVL_000097" "g.7126101G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018066" "" "0000018067" "0" "00" "17" "7126101" "7126102" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-18 12:58:22" "ACADVL_000098" "g.7126101_7126102insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018067" "" "0000018068" "0" "77" "17" "7126102" "7126102" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 14:28:30" "ACADVL_000099" "g.7126102del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018068" "" "0000018069" "0" "55" "17" "7126112" "7126112" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-03-01 02:27:48" "ACADVL_000100" "g.7126112C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018069" "" "0000018070" "0" "77" "17" "7126126" "7126126" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-03-01 02:27:56" "ACADVL_000101" "g.7126126G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018070" "" "0000018071" "0" "33" "17" "7126145" "7126145" "subst" "35" "0.0244503" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 23:27:23" "ACADVL_000019" "g.7126145G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000686" "" "0000018072" "0" "33" "17" "7126173" "7126173" "subst" "35" "0.00399815" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 18:57:21" "ACADVL_000102" "g.7126173A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018072" "" "0000018073" "0" "55" "17" "7126183" "7126183" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:07:06" "ACADVL_000103" "g.7126183C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018073" "" "0000018074" "0" "77" "17" "7126184" "7126185" "delins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:07:14" "ACADVL_000105" "g.7126184_7126185delinsCAC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018074" "" "0000018075" "0" "55" "17" "7126184" "7126184" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:07:10" "ACADVL_000104" "g.7126184G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018075" "" "0000018076" "0" "77" "17" "7126185" "7126185" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:47:16" "ACADVL_000132" "g.7126185G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018076" "" "0000018077" "0" "77" "17" "7126186" "7126186" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-03-01 02:27:59" "ACADVL_000133" "g.7126186T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018077" "" "0000018078" "0" "99" "17" "7126471" "7126471" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-03-01 02:27:38" "ACADVL_000037" "g.7126471G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0002647" "" "0000018079" "0" "77" "17" "7126477" "7126477" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-03-01 02:27:41" "ACADVL_000134" "g.7126477A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018079" "" "0000018080" "0" "77" "17" "7126480" "7126480" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:47:50" "ACADVL_000135" "g.7126480T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018080" "" "0000018081" "0" "77" "17" "7126487" "7126487" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:47:54" "ACADVL_000136" "g.7126487del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018081" "" "0000018082" "0" "55" "17" "7126501" "7126501" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:47:58" "ACADVL_000137" "g.7126501T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018082" "" "0000018083" "0" "00" "17" "7126513" "7126515" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:48:02" "ACADVL_000138" "g.7126513_7126515del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018083" "" "0000018084" "0" "99" "17" "7126518" "7126518" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:48:06" "ACADVL_000020" "g.7126518A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000687" "" "0000018085" "0" "99" "17" "7126557" "7126557" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:48:10" "ACADVL_000139" "g.7126557G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018085" "" "0000018086" "0" "77" "17" "7126962" "7126962" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:48:15" "ACADVL_000140" "g.7126962G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018086" "" "0000018087" "0" "55" "17" "7127000" "7127000" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:48:19" "ACADVL_000141" "g.7127000G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018087" "" "0000018088" "0" "55" "17" "7127006" "7127006" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:48:22" "ACADVL_000021" "g.7127006C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000688" "" "0000018089" "0" "33" "17" "7127019" "7127019" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:48:26" "ACADVL_000142" "g.7127019A>G" "" "" "" "" "" "0" "; 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clinvar;" "" "" "" "" "" "" "" "0000025347" "0" "00" "17" "7121073" "7121073" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:01:41" "DLG4_000006" "g.7121073C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025348" "0" "00" "17" "7121088" "7121088" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:02:07" "DLG4_000007" "g.7121088C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025349" "0" "00" "17" "7121095" "7121095" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:02:33" "DLG4_000008" "g.7121095G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025350" "0" "00" "17" "7121115" "7121116" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:02:59" "DLG4_000009" "g.7121115_7121116insCGATGA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025351" "0" "00" "17" "7121121" "7121125" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:03:23" "DLG4_000010" "g.7121121_7121125del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025352" "0" "00" "17" "7123306" "7123306" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-08-03 21:34:28" "DLG4_000011" "g.7123306G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025353" "0" "00" "17" "7123317" "7123333" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:04:12" "DLG4_000012" "g.7123317_7123333del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025354" "0" "00" "17" "7123333" "7123333" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:04:34" "DLG4_000013" "g.7123333del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025355" "0" "00" "17" "7123371" "7123371" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2020-04-26 14:22:44" "ACADVL_000307" "g.7123371T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025356" "0" "00" "17" "7123375" "7123375" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:05:34" "ACADVL_000309" "g.7123375del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025357" "0" "00" "17" "7123374" "7123374" "subst" "51" "0.000385149" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-24 12:44:36" "ACADVL_000308" "g.7123374G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025358" "0" "00" "17" "7123383" "7123383" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:05:52" "ACADVL_000310" "g.7123383G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025359" "0" "00" "17" "7123410" "7123410" "subst" "35" "0.000154655" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-07-07 13:08:55" "ACADVL_000268" "g.7123410C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025360" "0" "00" "17" "7123423" "7123423" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-03-16 14:24:40" "ACADVL_000269" "g.7123423A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025361" "0" "00" "17" "7123473" "7123473" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-24 12:44:36" "ACADVL_000270" "g.7123473G>A" "" "" "" "" "" "0" "; 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clinvar;" "" "" "" "" "" "" "" "0000025367" "0" "00" "17" "7123831" "7123831" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:01:52" "ACADVL_000249" "g.7123831del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025368" "0" "00" "17" "7123830" "7123831" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-07-08 03:08:54" "ACADVL_000248" "g.7123830_7123831insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025369" "0" "00" "17" "7123853" "7123853" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:02:07" "ACADVL_000250" "g.7123853G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025370" "0" "00" "17" "7123863" "7123863" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:02:23" "ACADVL_000251" "g.7123863G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025371" "0" "00" "17" "7123878" "7123879" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:02:38" "ACADVL_000252" "g.7123878_7123879insG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025372" "0" "00" "17" "7123918" "7123918" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:02:53" "ACADVL_000253" "g.7123918C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025373" "0" "00" "17" "7123945" "7123945" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:03:07" "ACADVL_000254" "g.7123945G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025374" "0" "00" "17" "7123948" "7123948" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:03:23" "ACADVL_000255" "g.7123948T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025375" "0" "00" "17" "7123967" "7123968" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:03:37" "ACADVL_000256" "g.7123967_7123968del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025376" "0" "00" "17" "7123974" "7123974" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-24 12:44:36" "ACADVL_000257" "g.7123974C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025377" "0" "00" "17" "7123982" "7123982" "del" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-24 12:44:36" "ACADVL_000258" "g.7123982del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025378" "0" "00" "17" "7123995" "7123995" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:04:22" "ACADVL_000259" "g.7123995del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025379" "0" "00" "17" "7123997" "7123997" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-29 11:14:05" "ACADVL_000260" "g.7123997T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025380" "0" "00" "17" "7124020" "7124020" "del" "35" "0.00015977" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:05:07" "ACADVL_000262" "g.7124020del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025381" "0" "00" "17" "7124019" "7124019" "subst" "51" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-29 11:14:05" "ACADVL_000261" "g.7124019T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025382" "0" "00" "17" "7124046" "7124046" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-05-24 16:58:21" "ACADVL_000263" "g.7124046C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025383" "0" "00" "17" "7124077" "7124077" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:05:37" "ACADVL_000264" "g.7124077C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025384" "0" "00" "17" "7124093" "7124093" "subst" "35" "0.000538213" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:05:52" "ACADVL_000265" "g.7124093G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025385" "0" "00" "17" "7124106" "7124112" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-06-28 09:17:04" "ACADVL_000266" "g.7124106_7124112del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025386" "0" "00" "17" "7124137" "7124145" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:06:22" "ACADVL_000267" "g.7124137_7124145del" "" "" "" "" "" "0" "; 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clinvar;" "" "" "" "" "" "" "" "0000025392" "0" "00" "17" "7124220" "7124220" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:52:58" "ACADVL_000276" "g.7124220G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025393" "0" "00" "17" "7124264" "7124264" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:53:13" "ACADVL_000277" "g.7124264A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025394" "0" "00" "17" "7124274" "7124274" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-23 22:20:06" "ACADVL_000278" "g.7124274T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025395" "0" "00" "17" "7124298" "7124298" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:53:43" "ACADVL_000279" "g.7124298G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025396" "0" "00" "17" "7124319" "7124358" "del" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-23 22:20:06" "ACADVL_000280" "g.7124319_7124358del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025397" "0" "00" "17" "7124339" "7124339" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:54:13" "ACADVL_000281" "g.7124339C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025398" "0" "00" "17" "7124861" "7124861" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:54:28" "ACADVL_000282" "g.7124861C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025399" "0" "00" "17" "7124914" "7124914" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:54:46" "ACADVL_000283" "g.7124914G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025400" "0" "00" "17" "7124917" "7124917" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:22:46" "ACADVL_000219" "g.7124917G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025401" "0" "00" "17" "7124957" "7124957" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:23:07" "ACADVL_000220" "g.7124957G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025402" "0" "00" "17" "7124982" "7124982" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:23:29" "ACADVL_000221" "g.7124982C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025403" "0" "00" "17" "7124998" "7124998" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:23:51" "ACADVL_000222" "g.7124998T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025404" "0" "00" "17" "7125269" "7125270" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:24:07" "ACADVL_000223" "g.7125269_7125270del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025405" "0" "00" "17" "7125285" "7125285" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:24:23" "ACADVL_000035" "g.7125285G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025406" "0" "00" "17" "7125299" "7125300" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:24:43" "ACADVL_000224" "g.7125299_7125300insGAGCCCTCAAGCGGGTCAGATGCAGCCTCCA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025407" "0" "00" "17" "7125387" "7125387" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:25:03" "ACADVL_000225" "g.7125387A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025408" "0" "00" "17" "7125424" "7125424" "subst" "35" "0.00253729" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:25:25" "ACADVL_000226" "g.7125424C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025409" "0" "00" "17" "7125500" "7125502" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:25:46" "ACADVL_000227" "g.7125500_7125502del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025410" "0" "00" "17" "7125551" "7125551" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:26:04" "ACADVL_000228" "g.7125551del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025411" "0" "00" "17" "7126005" "7126005" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:26:22" "ACADVL_000229" "g.7126005A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025412" "0" "00" "17" "7126014" "7126014" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:26:40" "ACADVL_000230" "g.7126014A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025413" "0" "00" "17" "7126038" "7126038" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:26:57" "ACADVL_000231" "g.7126038del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025414" "0" "00" "17" "7126051" "7126051" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:27:14" "ACADVL_000232" "g.7126051T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025415" "0" "00" "17" "7126057" "7126057" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:27:32" "ACADVL_000233" "g.7126057T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025416" "0" "00" "17" "7126063" "7126063" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:27:49" "ACADVL_000234" "g.7126063C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025417" "0" "00" "17" "7126099" "7126099" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:28:07" "ACADVL_000235" "g.7126099A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025418" "0" "00" "17" "7126108" "7126108" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:28:26" "ACADVL_000236" "g.7126108T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025419" "0" "00" "17" "7126114" "7126116" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:28:44" "ACADVL_000237" "g.7126114_7126116del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025420" "0" "00" "17" "7126114" "7126133" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:28:59" "ACADVL_000238" "g.7126114_7126133del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025421" "0" "00" "17" "7126116" "7126116" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:29:20" "ACADVL_000239" "g.7126116C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025422" "0" "00" "17" "7126144" "7126144" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:29:40" "ACADVL_000240" "g.7126144C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025423" "0" "00" "17" "7126148" "7126149" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:30:00" "ACADVL_000241" "g.7126148_7126149insCTGGCAGGTACCATGAGAGGCAT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025424" "0" "00" "17" "7126169" "7126171" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:30:20" "ACADVL_000242" "g.7126169_7126171del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025425" "0" "00" "17" "7126185" "7126185" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:55:01" "ACADVL_000284" "g.7126185G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025426" "0" "00" "17" "7126470" "7126470" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:55:16" "ACADVL_000285" "g.7126470C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025427" "0" "00" "17" "7126527" "7126527" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:55:31" "ACADVL_000286" "g.7126527C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025428" "0" "00" "17" "7126558" "7126558" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:55:46" "ACADVL_000287" "g.7126558T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025429" "0" "00" "17" "7126948" "7126948" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:56:01" "ACADVL_000288" "g.7126948A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025430" "0" "00" "17" "7126956" "7126956" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:56:16" "ACADVL_000289" "g.7126956A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025431" "0" "00" "17" "7126960" "7126961" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:56:31" "ACADVL_000290" "g.7126960_7126961insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025432" "0" "00" "17" "7126978" "7126978" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:56:47" "ACADVL_000291" "g.7126978G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025433" "0" "00" "17" "7126997" "7126997" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:57:02" "ACADVL_000292" "g.7126997A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025434" "0" "00" "17" "7127026" "7127026" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:06:09" "ACADVL_000311" "g.7127026G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025435" "0" "00" "17" "7127048" "7127048" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:07:43" "ACADVL_000302" "g.7127048C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025436" "0" "00" "17" "7127049" "7127049" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:36:41" "ACADVL_000194" "g.7127049G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025437" "0" "00" "17" "7127050" "7127050" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:37:09" "ACADVL_000195" "g.7127050G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025438" "0" "00" "17" "7127094" "7127094" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:37:34" "ACADVL_000196" "g.7127094A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025439" "0" "00" "17" "7127144" "7127144" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:38:02" "ACADVL_000197" "g.7127144del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025440" "0" "00" "17" "7127153" "7127153" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:38:27" "ACADVL_000198" "g.7127153G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025441" "0" "00" "17" "7127178" "7127178" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:38:50" "ACADVL_000199" "g.7127178G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025442" "0" "00" "17" "7127190" "7127190" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:39:17" "ACADVL_000200" "g.7127190T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025443" "0" "00" "17" "7127221" "7127221" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:39:48" "ACADVL_000201" "g.7127221C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025444" "0" "00" "17" "7127262" "7127262" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:40:11" "ACADVL_000202" "g.7127262T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025445" "0" "00" "17" "7127314" "7127314" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:40:27" "ACADVL_000203" "g.7127314G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025446" "0" "00" "17" "7127320" "7127320" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:40:44" "ACADVL_000204" "g.7127320C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025447" "0" "00" "17" "7127384" "7127384" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:41:02" "ACADVL_000205" "g.7127384G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025448" "0" "00" "17" "7127390" "7127390" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:41:20" "ACADVL_000206" "g.7127390T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025449" "0" "00" "17" "7127411" "7127411" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:41:44" "ACADVL_000207" "g.7127411G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025450" "0" "00" "17" "7127412" "7127412" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:42:01" "ACADVL_000208" "g.7127412G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025451" "0" "00" "17" "7127415" "7127415" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:42:24" "ACADVL_000209" "g.7127415G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025452" "0" "00" "17" "7127426" "7127426" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:42:40" "ACADVL_000210" "g.7127426G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025453" "0" "00" "17" "7127526" "7127526" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:43:02" "ACADVL_000211" "g.7127526G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025454" "0" "00" "17" "7127562" "7127562" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:43:18" "ACADVL_000212" "g.7127562G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025455" "0" "00" "17" "7127569" "7127569" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:43:36" "ACADVL_000213" "g.7127569T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025456" "0" "00" "17" "7127573" "7127573" "subst" "35" "0.000230663" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:43:52" "ACADVL_000214" "g.7127573G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025457" "0" "00" "17" "7127734" "7127734" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:44:08" "ACADVL_000215" "g.7127734A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025458" "0" "00" "17" "7127757" "7127757" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:44:26" "ACADVL_000216" "g.7127757C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025459" "0" "00" "17" "7127757" "7127757" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:44:44" "ACADVL_000217" "g.7127757C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025460" "0" "00" "17" "7127763" "7127763" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:45:02" "ACADVL_000218" "g.7127763G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025461" "0" "00" "17" "7127771" "7127771" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:08:02" "ACADVL_000303" "g.7127771G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025462" "0" "00" "17" "7127777" "7127777" "subst" "35" "0.00261418" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:08:20" "ACADVL_000304" "g.7127777C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025463" "0" "00" "17" "7127797" "7127797" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:08:36" "ACADVL_000305" "g.7127797A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025464" "0" "00" "17" "7127810" "7127810" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:08:53" "ACADVL_000306" "g.7127810T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025465" "0" "00" "17" "7127886" "7127886" "subst" "35" "0.000153846" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:15:40" "ACADVL_000293" "g.7127886C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025466" "0" "00" "17" "7127893" "7127893" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:16:00" "ACADVL_000294" "g.7127893C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025467" "0" "00" "17" "7127895" "7127895" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:16:18" "ACADVL_000295" "g.7127895G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025468" "0" "00" "17" "7127898" "7127898" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:16:49" "ACADVL_000296" "g.7127898C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025469" "0" "00" "17" "7127910" "7127910" "subst" "35" "0.0000770297" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:17:07" "ACADVL_000297" "g.7127910C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025470" "0" "00" "17" "7127927" "7127927" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:17:31" "ACADVL_000298" "g.7127927C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025471" "0" "00" "17" "7127955" "7127955" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:17:50" "ACADVL_000299" "g.7127955del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025472" "0" "00" "17" "7127992" "7127993" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:18:08" "ACADVL_000300" "g.7127992_7127993insG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025473" "0" "00" "17" "7128015" "7128015" "subst" "35" "0.000077232" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:18:28" "ACADVL_000301" "g.7128015T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025474" "0" "00" "17" "7128030" "7128030" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:44:04" "ACADVL_000184" "g.7128030C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025475" "0" "00" "17" "7128030" "7128030" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:44:19" "ACADVL_000185" "g.7128030C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025476" "0" "00" "17" "7128034" "7128034" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:44:34" "ACADVL_000186" "g.7128034G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025477" "0" "00" "17" "7128051" "7128051" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:45:22" "ACADVL_000187" "g.7128051G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025478" "0" "00" "17" "7128063" "7128063" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:45:37" "ACADVL_000188" "g.7128063C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025479" "0" "00" "17" "7128079" "7128079" "subst" "35" "0.000153822" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:45:51" "ACADVL_000189" "g.7128079C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025480" "0" "00" "17" "7128092" "7128092" "subst" "35" "0.00146086" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:46:06" "ACADVL_000190" "g.7128092G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025481" "0" "00" "17" "7128095" "7128095" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:46:21" "ACADVL_000191" "g.7128095C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025482" "0" "00" "17" "7128096" "7128097" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:46:36" "ACADVL_000192" "g.7128096_7128097del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025483" "0" "00" "17" "7128105" "7128105" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:46:51" "ACADVL_000193" "g.7128105T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025484" "0" "00" "17" "7128142" "7128145" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:44:27" "ACADVL_000178" "g.7128142_7128145del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025485" "0" "00" "17" "7128142" "7128142" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:44:13" "ACADVL_000177" "g.7128142T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025486" "0" "00" "17" "7128180" "7128181" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:44:53" "ACADVL_000179" "g.7128180_7128181del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025487" "0" "00" "17" "7128201" "7128201" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:45:08" "ACADVL_000180" "g.7128201G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025488" "0" "00" "17" "7128312" "7128312" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:45:23" "ACADVL_000181" "g.7128312C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025489" "0" "00" "17" "7128355" "7128356" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:45:38" "ACADVL_000182" "g.7128355_7128356insC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025490" "0" "00" "17" "7128371" "7128371" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:46:14" "ACADVL_000183" "g.7128371G>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 = 1449 "{{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}}" "0000000672" "00000388" "11" "132" "-89" "132" "-89" "c.132-89C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000672" "00000389" "11" "-255" "0" "-255" "0" "c.-255C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000672" "00000390" "11" "49" "0" "49" "0" "c.49C>T" "1/19" "p.?" "r.?" "unknown(0)" "" "missense_variant,NMD_transcript_variant" "" "" "-" "0000000672" "00000391" "11" "49" "0" "49" "0" "c.49C>T" "1/19" "p.(Leu17Phe)" "r.(?)" "unknown(0)" "" "missense_variant,NMD_transcript_variant" "" "" "-" "0000000673" "00000388" "11" "137" "0" "137" "0" "c.137G>A" "3/21" "p.(Arg46Gln)" "r.(?)" "benign(0.005)" "" "missense_variant" "" "" "tolerated(0.06)" "0000000673" "00000389" "11" "-161" "0" "-161" "0" "c.-161G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000673" "00000390" "11" "68" "0" "68" "0" "c.68G>A" "2/6" "p.?" "r.?" "benign(0.014)" "" "missense_variant" "" "" "tolerated(0.33)" "0000000673" "00000391" "11" "68" "0" "68" "0" "c.68G>A" "2/6" "p.(Arg23Gln)" "r.(?)" "benign(0.014)" "" "missense_variant" "" "" "tolerated(0.33)" "0000000674" "00000388" "11" "197" "0" "197" "0" "c.197G>A" "3/21" "p.(Gly66Asp)" "r.(?)" "benign(0.289)" "" "missense_variant" "" "" "tolerated(0.34)" "0000000674" "00000389" "11" "-101" "0" "-101" "0" "c.-101G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000674" "00000390" "11" "128" "0" "128" "0" "c.128G>A" "2/6" "p.?" "r.?" "unknown(0)" "" "missense_variant" "" "" "tolerated(0.5)" "0000000674" "00000391" "11" "128" "0" "128" "0" "c.128G>A" "2/6" "p.(Gly43Asp)" "r.(?)" "unknown(0)" "" "missense_variant" "" "" "tolerated(0.5)" "0000000675" "00000388" "11" "263" "0" "263" "0" "c.263C>T" "4/21" "p.(Pro88Leu)" "r.(?)" "benign(0.001)" "" "missense_variant" "" "" "tolerated(0.08)" "0000000675" "00000389" "11" "-35" "0" "-35" "0" "c.-35C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000675" "00000390" "11" "194" "0" "194" "0" "c.194C>T" "3/6" "p.?" "r.?" "benign(0.023)" "" "missense_variant" "" "" "tolerated(0.11)" "0000000675" "00000391" "11" "139" "-85" "139" "-85" "c.139-85C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000676" "00000388" "00" "342" "0" "342" "0" "c.342del" "" "p.(Ser115Profs*25)" "r.(?)" "" "" "" "" "" "-" "0000000676" "00000389" "00" "45" "0" "45" "0" "c.45del" "" "p.(Ser16Profs*25)" "r.(?)" "" "" "" "" "" "-" "0000000676" "00000390" "00" "273" "0" "273" "0" "c.273del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000000676" "00000391" "00" "207" "0" "207" "0" "c.207del" "" "p.(Ser70Profs*25)" "r.(?)" "" "" "" "" "" "-" "0000000677" "00000388" "55" "388" "0" "390" "0" "c.388_390del" "" "p.(Glu130del)" "r.(?)" "" "" "" "" "" "-" "0000000677" "00000389" "55" "91" "0" "93" "0" "c.91_93del" "" "p.(Glu31del)" "r.(?)" "" "" "" "" "" "-" "0000000677" "00000390" "55" "319" "0" "321" "0" "c.319_321del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000000677" "00000391" "55" "253" "0" "255" "0" "c.253_255del" "" "p.(Glu85del)" "r.(?)" "" "" "" "" "" "-" "0000000678" "00000388" "99" "412" "-1" "412" "-1" "c.412-1del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000678" "00000389" "99" "115" "-1" "115" "-1" "c.115-1del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000678" "00000390" "99" "343" "-1" "343" "-1" "c.343-1del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000000678" "00000391" "99" "277" "-1" "277" "-1" "c.277-1del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000679" "00000388" "55" "454" "0" "456" "0" "c.454_456del" "" "p.(Glu153del)" "r.(?)" "" "" "" "" "" "-" "0000000679" "00000389" "55" "157" "0" "159" "0" "c.157_159del" "" "p.(Glu54del)" "r.(?)" "" "" "" "" "" "-" "0000000679" "00000390" "55" "385" "0" "387" "0" "c.385_387del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000000679" "00000391" "55" "319" "0" "321" "0" "c.319_321del" "" "p.(Glu108del)" "r.(?)" "" "" "" "" "" "-" "0000000680" "00000388" "99" "808" "0" "808" "0" "c.808A>C" "9/21" "p.(Lys270Gln)" "r.(?)" "possibly_damaging(0.901)" "" "missense_variant" "" "" "deleterious(0)" "0000000680" "00000389" "99" "511" "0" "511" "0" "c.511A>C" "7/19" "p.(Lys171Gln)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000680" "00000390" "99" "739" "0" "739" "0" "c.739A>C" "8/20" "p.?" "r.?" "possibly_damaging(0.8)" "" "missense_variant" "" "" "deleterious(0)" "0000000680" "00000391" "99" "673" "0" "673" "0" "c.673A>C" "7/19" "p.(Lys225Gln)" "r.(?)" "possibly_damaging(0.901)" "" "missense_variant" "" "" "deleterious(0)" "0000000681" "00000388" "00" "848" "0" "848" "0" "c.848C>T" "" "p.(Thr283Met)" "r.(?)" "" "" "" "" "" "-" "0000000681" "00000389" "00" "551" "0" "551" "0" "c.551C>T" "" "p.(Thr184Met)" "r.(?)" "" "" "" "" "" "-" "0000000681" "00000390" "99" "779" "0" "779" "0" "c.779C>T" "9/20" "p.?" "r.?" "probably_damaging(0.994)" "" "missense_variant" "" "" "deleterious(0)" "0000000681" "00000391" "00" "713" "0" "713" "0" "c.713C>T" "" "p.(Thr238Met)" "r.(?)" "" "" "" "" "" "-" "0000000682" "00000388" "55" "895" "0" "897" "0" "c.895_897del" "" "p.(Lys299del)" "r.(?)" "" "" "" "" "" "-" "0000000682" "00000389" "55" "598" "0" "600" "0" "c.598_600del" "" "p.(Lys200del)" "r.(?)" "" "" "" "" "" "-" "0000000682" "00000390" "55" "826" "0" "828" "0" "c.826_828del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000000682" "00000391" "55" "760" "0" "762" "0" "c.760_762del" "" "p.(Lys254del)" "r.(?)" "" "" "" "" "" "-" "0000000683" "00000388" "00" "917" "0" "917" "0" "c.917T>C" "" "p.(Val306Ala)" "r.(?)" "" "" "" "" "" "-" "0000000683" "00000389" "00" "620" "0" "620" "0" "c.620T>C" "" "p.(Val207Ala)" "r.(?)" "" "" "" "" "" "-" "0000000683" "00000390" "99" "848" "0" "848" "0" "c.848T>C" "9/20" "p.?" "r.?" "benign(0.371)" "" "missense_variant" "" "" "deleterious(0)" "0000000683" "00000391" "00" "782" "0" "782" "0" "c.782T>C" "" "p.(Val261Ala)" "r.(?)" "" "" "" "" "" "-" "0000000684" "00000388" "55" "961" "0" "963" "0" "c.961_963del" "" "p.(Lys322del)" "r.(?)" "" "" "" "" "" "-" "0000000684" "00000389" "55" "664" "0" "666" "0" "c.664_666del" "" "p.(Lys223del)" "r.(?)" "" "" "" "" "" "-" "0000000684" "00000390" "55" "892" "0" "894" "0" "c.892_894del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000000684" "00000391" "55" "826" "0" "828" "0" "c.826_828del" "" "p.(Lys277del)" "r.(?)" "" "" "" "" "" "-" "0000000685" "00000388" "55" "1038" "0" "1038" "0" "c.1038G>A" "11/21" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000685" "00000389" "55" "741" "0" "741" "0" "c.741G>A" "9/19" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000685" "00000390" "55" "969" "0" "969" "0" "c.969G>A" "10/20" "p.?" "r.?" "-" "" "synonymous_variant" "" "" "-" "0000000685" "00000391" "55" "903" "0" "903" "0" "c.903G>A" "9/19" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000686" "00000388" "11" "1107" "0" "1107" "0" "c.1107G>A" "11/21" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000686" "00000389" "11" "810" "0" "810" "0" "c.810G>A" "9/19" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000686" "00000390" "11" "1038" "0" "1038" "0" "c.1038G>A" "10/20" "p.?" "r.?" "-" "" "synonymous_variant" "" "" "-" "0000000686" "00000391" "11" "972" "0" "972" "0" "c.972G>A" "9/19" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000687" "00000390" "99" "1144" "0" "1144" "0" "c.1144A>C" "11/20" "p.?" "r.?" "possibly_damaging(0.891)" "" "missense_variant" "" "" "deleterious(0.05)" "0000000688" "00000390" "99" "1226" "0" "1226" "0" "c.1226C>T" "12/20" "p.?" "r.?" "benign(0.106)" "" "missense_variant" "" "" "tolerated(0.1)" "0000000689" "00000388" "99" "1315" "0" "1315" "0" "c.1315G>A" "13/21" "p.(Ala439Thr)" "r.(?)" "benign(0.38)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000689" "00000389" "99" "1018" "0" "1018" "0" "c.1018G>A" "11/19" "p.(Ala340Thr)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000689" "00000390" "99" "1246" "0" "1246" "0" "c.1246G>A" "12/20" "p.?" "r.?" "possibly_damaging(0.796)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000689" "00000391" "99" "1180" "0" "1180" "0" "c.1180G>A" "11/19" "p.(Ala394Thr)" "r.(?)" "benign(0.38)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000690" "00000388" "55" "1322" "0" "1322" "0" "c.1322G>A" "13/21" "p.(Ser441Asn)" "r.(?)" "probably_damaging(0.983)" "" "missense_variant" "" "" "tolerated(0.06)" "0000000690" "00000389" "55" "1025" "0" "1025" "0" "c.1025G>A" "11/19" "p.(Ser342Asn)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000690" "00000390" "55" "1253" "0" "1253" "0" "c.1253G>A" "12/20" "p.?" "r.?" "probably_damaging(0.975)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000690" "00000391" "55" "1187" "0" "1187" "0" "c.1187G>A" "11/19" "p.(Ser396Asn)" "r.(?)" "probably_damaging(0.968)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000691" "00000388" "00" "1349" "0" "1349" "0" "c.1349G>A" "14/21" "p.(Trp450*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000691" "00000389" "00" "1052" "0" "1052" "0" "c.1052G>A" "12/19" "p.(Trp351*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000691" "00000390" "00" "1280" "0" "1280" "0" "c.1280G>A" "13/20" "p.?" "r.?" "-" "" "stop_gained" "" "" "-" "0000000691" "00000391" "00" "1214" "0" "1214" "0" "c.1214G>A" "12/19" "p.(Trp405*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000692" "00000388" "00" "1353" "0" "1353" "0" "c.1353G>A" "14/21" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000692" "00000389" "00" "1056" "0" "1056" "0" "c.1056G>A" "12/19" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000692" "00000390" "00" "1284" "0" "1284" "0" "c.1284G>A" "13/20" "p.?" "r.?" "-" "" "synonymous_variant" "" "" "-" "0000000692" "00000391" "00" "1218" "0" "1218" "0" "c.1218G>A" "12/19" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000693" "00000388" "00" "1391" "0" "1391" "0" "c.1391G>A" "" "p.(Gly464Asp)" "r.(?)" "" "" "" "" "" "-" "0000000693" "00000389" "00" "1094" "0" "1094" "0" "c.1094G>A" "" "p.(Gly365Asp)" "r.(?)" "" "" "" "" "" "-" "0000000693" "00000390" "99" "1322" "0" "1322" "0" "c.1322G>A" "13/20" "p.?" "r.?" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000693" "00000391" "00" "1256" "0" "1256" "0" "c.1256G>A" "" "p.(Gly419Asp)" "r.(?)" 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"probably_damaging(0.992)" "" "missense_variant" "" "" "deleterious(0)" "0000000695" "00000391" "99" "1283" "0" "1283" "0" "c.1283G>A" "13/19" "p.(Arg428His)" "r.(?)" "probably_damaging(0.977)" "" "missense_variant" "" "" "deleterious(0)" "0000000696" "00000390" "99" "1372" "0" "1372" "0" "c.1372T>C" "14/20" "p.?" "r.?" "probably_damaging(0.926)" "" "missense_variant" "" "" "tolerated(0.3)" "0000000697" "00000390" "99" "1405" "0" "1405" "0" "c.1405C>T" "14/20" "p.?" "r.?" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000698" "00000390" "11" "1600" "0" "1600" "0" "c.1600G>A" "16/20" "p.?" "r.?" "benign(0)" "" "missense_variant" "" "" "tolerated(1)" "0000000699" "00000388" "99" "1748" "-6" "1748" "-6" "c.1748-6G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000699" "00000389" "99" "1451" "-6" "1451" "-6" "c.1451-6G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000699" "00000390" "99" "1679" "-6" "1679" "-6" "c.1679-6G>A" "" "p.?" "r.?" "" "" "" "" "" "-" "0000000699" "00000391" "99" "1613" "-6" "1613" "-6" "c.1613-6G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000700" "00000388" "99" "1906" "0" "1906" "0" "c.1906C>T" "21/21" "p.(Arg636Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000700" "00000389" "99" "1609" "0" "1609" "0" "c.1609C>T" "19/19" "p.(Arg537Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000700" "00000390" "99" "1837" "0" "1837" "0" "c.1837C>T" "20/20" "p.?" "r.?" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000000700" "00000391" "99" "1771" "0" "1771" "0" "c.1771C>T" "19/19" "p.(Arg591Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000701" "00000388" "55" "1965" "0" "1965" "0" "c.1965C>T" "21/21" "p.?" "r.?" "-" "" "synonymous_variant" "" "" "-" "0000000701" "00000389" "55" "1668" "0" "1668" "0" "c.1668C>T" "19/19" "p.?" "r.?" 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"-" "" "missense_variant" "" "" "-" "0000002638" "00000390" "55" "637" "0" "637" "0" "c.637G>C" "8/20" "p.?" "r.?" "probably_damaging(0.962)" "" "missense_variant" "" "" "deleterious(0)" "0000002638" "00000391" "55" "571" "0" "571" "0" "c.571G>C" "7/19" "p.(Ala191Pro)" "r.(?)" "possibly_damaging(0.788)" "" "missense_variant" "" "" "deleterious(0)" "0000002643" "00000388" "55" "950" "0" "950" "0" "c.950G>A" "11/21" "p.(Gly317Glu)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000002643" "00000389" "55" "653" "0" "653" "0" "c.653G>A" "9/19" "p.(Gly218Glu)" "r.(?)" "-" "" "missense_variant,splice_region_variant" "" "" "-" "0000002643" "00000390" "55" "881" "0" "881" "0" "c.881G>A" "10/20" "p.?" "r.?" "probably_damaging(0.999)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000002643" "00000391" "55" "815" "0" "815" "0" "c.815G>A" "9/19" "p.(Gly272Glu)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000002647" "00000388" "55" "1166" "0" "1166" "0" "c.1166G>A" "12/21" "p.(Arg389His)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000002647" "00000389" "55" "869" "0" "869" "0" "c.869G>A" "10/19" "p.(Arg290His)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002647" "00000390" "55" "1097" "0" "1097" "0" "c.1097G>A" "11/20" "p.?" "r.?" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000002647" "00000391" "55" "1031" "0" "1031" "0" "c.1031G>A" "10/19" "p.(Arg344His)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000002648" "00000388" "55" "1166" "0" "1166" "0" "c.1166G>C" "12/21" "p.(Arg389Pro)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000002648" "00000389" "55" "869" "0" "869" "0" "c.869G>C" "10/19" "p.(Arg290Pro)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002648" "00000390" "55" "1097" "0" "1097" "0" "c.1097G>C" "11/20" "p.?" "r.?" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000002648" "00000391" "55" "1031" "0" "1031" "0" "c.1031G>C" "10/19" "p.(Arg344Pro)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000002655" "00000388" "55" "1427" "0" "1427" "0" "c.1427G>A" "15/21" "p.(Arg476Gln)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000002655" "00000389" "55" "1130" "0" "1130" "0" "c.1130G>A" "13/19" "p.(Arg377Gln)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002655" "00000390" "55" "1358" "0" "1358" "0" "c.1358G>A" "14/20" "p.?" "r.?" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000002655" "00000391" "55" "1292" "0" "1292" "0" "c.1292G>A" "13/19" "p.(Arg431Gln)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000002657" "00000388" "55" "1457" "0" "1457" "0" "c.1457G>A" "15/21" "p.(Gly486Glu)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000002657" "00000389" "55" "1160" "0" "1160" "0" "c.1160G>A" "13/19" "p.(Gly387Glu)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002657" "00000390" "55" "1388" "0" "1388" "0" "c.1388G>A" "14/20" "p.?" "r.?" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000002657" "00000391" "55" "1322" "0" "1322" "0" "c.1322G>A" "13/19" "p.(Gly441Glu)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000002662" "00000388" "55" "1913" "0" "1913" "0" "c.1913G>A" "21/21" "p.(Arg638Gln)" "r.(?)" "benign(0.002)" "" "missense_variant" "" "" "tolerated(0.61)" "0000002662" "00000389" "55" "1616" "0" "1616" "0" "c.1616G>A" "19/19" "p.(Arg539Gln)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002662" "00000390" "55" "1844" "0" "1844" "0" "c.1844G>A" "20/20" "p.?" "r.?" "benign(0.001)" "" "missense_variant" "" "" "tolerated(0.68)" "0000002662" "00000391" "55" "1778" "0" "1778" "0" "c.1778G>A" "19/19" "p.(Arg593Gln)" "r.(?)" "benign(0.001)" "" "missense_variant" "" "" "tolerated(0.67)" "0000005191" "00000388" "00" "848" "0" "848" "0" "c.848C>T" "10/21" "p.(Thr283Met)" "r.(?)" "probably_damaging(0.99)" "" "missense_variant" "" "" "deleterious(0)" "0000005191" "00000389" "00" "551" "0" "551" "0" "c.551C>T" "8/19" "p.(Thr184Met)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000005191" "00000390" "00" "779" "0" "779" "0" "c.779C>T" "9/20" "p.(Thr260Met)" "r.(?)" "probably_damaging(0.994)" "" "missense_variant" "" "" "deleterious(0)" "0000005191" "00000391" "00" "713" "0" "713" "0" "c.713C>T" "8/19" "p.(Thr238Met)" "r.(?)" "probably_damaging(0.99)" "" "missense_variant" "" "" "deleterious(0)" "0000005192" "00000388" "00" "917" "0" "917" "0" "c.917T>C" "10/21" "p.(Val306Ala)" "r.(?)" "possibly_damaging(0.652)" "" "missense_variant" "" "" "deleterious(0)" "0000005192" "00000389" "00" "620" "0" "620" "0" "c.620T>C" "8/19" "p.(Val207Ala)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000005192" "00000390" "00" "848" "0" "848" "0" "c.848T>C" "9/20" "p.(Val283Ala)" "r.(?)" "benign(0.371)" "" "missense_variant" "" "" "deleterious(0)" "0000005192" "00000391" "00" "782" "0" "782" "0" "c.782T>C" "8/19" "p.(Val261Ala)" "r.(?)" "possibly_damaging(0.569)" "" "missense_variant" "" "" "deleterious(0)" "0000005193" "00000388" "00" "1213" "0" "1213" "0" "c.1213A>C" "12/21" "p.(Lys405Gln)" "r.(?)" "probably_damaging(0.991)" "" "missense_variant" "" "" "deleterious(0.03)" "0000005193" "00000389" "00" "916" "0" "916" "0" "c.916A>C" "10/19" "p.(Lys306Gln)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000005193" "00000390" "00" "1144" "0" "1144" "0" "c.1144A>C" "11/20" "p.(Lys382Gln)" "r.(?)" "possibly_damaging(0.891)" "" "missense_variant" "" "" "deleterious(0.05)" "0000005193" "00000391" "00" "1078" "0" "1078" "0" "c.1078A>C" "10/19" "p.(Lys360Gln)" "r.(?)" "probably_damaging(0.991)" "" "missense_variant" "" "" "tolerated(0.05)" "0000005194" "00000388" "00" "1295" "0" "1295" "0" "c.1295C>T" "13/21" "p.(Thr432Met)" "r.(?)" "possibly_damaging(0.605)" "" "missense_variant" "" "" "tolerated(0.07)" "0000005194" "00000389" "00" "998" "0" "998" "0" "c.998C>T" "11/19" "p.(Thr333Met)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000005194" "00000390" "00" "1226" "0" "1226" "0" "c.1226C>T" "12/20" "p.(Thr409Met)" "r.(?)" "benign(0.106)" "" "missense_variant" "" "" "tolerated(0.1)" "0000005194" "00000391" "00" "1160" "0" "1160" "0" "c.1160C>T" "11/19" "p.(Thr387Met)" "r.(?)" "benign(0.311)" "" "missense_variant" "" "" "tolerated(0.1)" "0000005195" "00000388" "00" "1391" "0" "1391" "0" "c.1391G>A" "14/21" "p.(Gly464Asp)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000005195" "00000389" "00" "1094" "0" "1094" "0" "c.1094G>A" "12/19" "p.(Gly365Asp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000005195" "00000390" "00" "1322" "0" "1322" "0" "c.1322G>A" "13/20" "p.(Gly441Asp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005195" "00000391" "00" "1256" "0" "1256" "0" "c.1256G>A" "12/19" "p.(Gly419Asp)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000005196" "00000388" "00" "1418" "0" "1418" "0" "c.1418G>A" "15/21" "p.(Arg473His)" "r.(?)" "probably_damaging(0.985)" "" "missense_variant" "" "" "deleterious(0)" "0000005196" "00000389" "00" "1121" "0" "1121" "0" "c.1121G>A" "13/19" "p.(Arg374His)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000005196" "00000390" "00" "1349" "0" "1349" "0" "c.1349G>A" "14/20" "p.(Arg450His)" "r.(?)" "probably_damaging(0.992)" "" "missense_variant" "" "" "deleterious(0)" "0000005196" "00000391" "00" "1283" "0" "1283" "0" "c.1283G>A" "13/19" "p.(Arg428His)" "r.(?)" "probably_damaging(0.977)" "" "missense_variant" "" "" "deleterious(0)" "0000005197" "00000388" "00" "1441" "0" "1441" "0" "c.1441T>C" "15/21" "p.(Phe481Leu)" "r.(?)" "probably_damaging(0.994)" "" "missense_variant" "" "" "tolerated(0.57)" "0000005197" "00000389" "00" "1144" "0" "1144" "0" "c.1144T>C" "13/19" "p.(Phe382Leu)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000005197" "00000390" "00" "1372" "0" "1372" "0" "c.1372T>C" "14/20" "p.(Phe458Leu)" "r.(?)" "probably_damaging(0.926)" "" "missense_variant" "" "" "tolerated(0.3)" "0000005197" "00000391" "00" "1306" "0" "1306" "0" "c.1306T>C" "13/19" "p.(Phe436Leu)" "r.(?)" "probably_damaging(0.994)" "" "missense_variant" "" "" "tolerated(0.28)" "0000005198" "00000388" "00" "1474" "0" "1474" "0" "c.1474C>T" "15/21" "p.(Arg492Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005198" "00000389" "00" "1177" "0" "1177" "0" "c.1177C>T" "13/19" "p.(Arg393Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000005198" "00000390" "00" "1405" "0" "1405" "0" "c.1405C>T" "14/20" "p.(Arg469Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005198" "00000391" "00" "1339" "0" "1339" "0" "c.1339C>T" "13/19" "p.(Arg447Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005199" "00000388" "00" "1669" "0" "1669" "0" "c.1669G>A" "17/21" "p.(Glu557Lys)" "r.(?)" "benign(0.003)" "" "missense_variant" "" "" "tolerated(0.8)" "0000005199" "00000389" "00" "1372" "0" "1372" "0" "c.1372G>A" "15/19" "p.(Glu458Lys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000005199" "00000390" "00" "1600" "0" "1600" "0" "c.1600G>A" "16/20" "p.(Glu534Lys)" "r.(?)" "benign(0)" "" "missense_variant" "" "" "tolerated(1)" "0000005199" "00000391" "00" "1534" "0" "1534" "0" "c.1534G>A" "15/19" "p.(Glu512Lys)" "r.(?)" "benign(0.003)" "" "missense_variant" "" "" "tolerated(1)" "0000005200" "00000388" "00" "1748" "-6" "1748" "-6" "c.1748-6G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005200" "00000389" "00" "1451" "-6" "1451" "-6" "c.1451-6G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005200" "00000390" "00" "1679" "-6" "1679" "-6" "c.1679-6G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005200" "00000391" "00" "1613" "-6" "1613" "-6" "c.1613-6G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005201" "00000388" "00" "1906" "0" "1906" "0" "c.1906C>T" "21/21" "p.(Arg636Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005201" "00000389" "00" "1609" "0" "1609" "0" "c.1609C>T" "19/19" "p.(Arg537Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000005201" "00000390" "00" "1837" "0" "1837" "0" "c.1837C>T" "20/20" "p.(Arg613Trp)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000005201" "00000391" "00" "1771" "0" "1771" "0" "c.1771C>T" "19/19" "p.(Arg591Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000017988" "00000388" "00" "132" "-269" "132" "-269" "c.132-269C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017988" "00000389" "00" "-435" "0" "-435" "0" "c.-435C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017988" "00000390" "00" "-132" "0" "-132" "0" "c.-132C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017988" "00000391" "00" "-132" "0" "-132" "0" "c.-132C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017989" "00000388" "00" "132" "-201" "132" "-200" "c.132-201_132-200insGGGCGTGCAGGACGC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017989" "00000389" "00" "-367" "0" "-366" "0" "c.-367_-366insGGGCGTGCAGGACGC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017989" "00000390" "00" "-64" "0" "-63" "0" "c.-64_-63insGGGCGTGCAGGACGC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017989" "00000391" "00" "-64" "0" "-63" "0" "c.-64_-63insGGGCGTGCAGGACGC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017990" "00000388" "00" "132" "-201" "132" "-201" "c.132-201T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017990" "00000389" "00" "-367" "0" "-367" "0" "c.-367T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017990" "00000390" "00" "-64" "0" "-64" "0" "c.-64T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017990" "00000391" "00" "-64" "0" "-64" "0" "c.-64T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017991" "00000388" "00" "132" "-173" "132" "-173" "c.132-173A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017991" "00000389" "00" "-339" "0" "-339" "0" "c.-339A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017991" "00000390" "00" "-36" "0" "-36" "0" "c.-36A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017991" "00000391" "00" "-36" "0" "-36" "0" "c.-36A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017992" "00000388" "00" "132" "-89" "132" "-89" "c.132-89C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017992" "00000389" "00" "-255" "0" "-255" "0" "c.-255C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017992" "00000390" "00" "49" "0" "49" "0" "c.49C>T" "" "p.(Leu17Phe)" "r.(?)" "" "" "" "" "" "-" "0000017992" "00000391" "00" "49" "0" "49" "0" "c.49C>T" "" "p.(Leu17Phe)" "r.(?)" "" "" "" "" "" "-" "0000017993" "00000388" "00" "132" "-84" "132" "-84" "c.132-84G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017993" "00000389" "00" "-250" "0" "-250" "0" "c.-250G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017993" "00000390" "00" "54" "0" "54" "0" "c.54G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017993" "00000391" "00" "54" "0" "54" "0" "c.54G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017994" "00000388" "00" "132" "-2" "132" "-2" "c.132-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000017994" "00000389" "00" "-168" "0" "-168" "0" "c.-168A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017994" "00000390" "00" "63" "-2" "63" "-2" "c.63-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000017994" "00000391" "00" "63" "-2" "63" "-2" "c.63-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000017995" "00000388" "00" "134" "0" "134" "0" "c.134C>A" "" "p.(Ser45*)" "r.(?)" "" "" "" "" "" "-" "0000017995" "00000389" "00" "-164" "0" "-164" "0" "c.-164C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017995" "00000390" "00" "65" "0" "65" "0" "c.65C>A" "" "p.(Ser22*)" "r.(?)" "" "" "" "" "" "-" "0000017995" "00000391" "00" "65" "0" "65" "0" "c.65C>A" "" "p.(Ser22*)" "r.(?)" "" "" "" "" "" "-" "0000017996" "00000388" "00" "137" "0" "137" "0" "c.137G>A" "" "p.(Arg46Gln)" "r.(?)" "" "" "" "" "" "-" "0000017996" "00000389" "00" "-161" "0" "-161" "0" "c.-161G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017996" "00000390" "00" "68" "0" "68" "0" "c.68G>A" "" "p.(Arg23Gln)" "r.(?)" "" "" "" "" "" "-" "0000017996" "00000391" "00" "68" "0" "68" "0" "c.68G>A" "" "p.(Arg23Gln)" "r.(?)" "" "" "" "" "" "-" "0000017997" "00000388" "00" "155" "0" "155" "0" "c.155G>A" "" "p.(Gly52Glu)" "r.(?)" "" "" "" "" "" "-" "0000017997" "00000389" "00" "-143" "0" "-143" "0" "c.-143G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017997" "00000390" "00" "86" "0" "86" "0" "c.86G>A" "" "p.(Gly29Glu)" "r.(?)" "" "" "" "" "" "-" "0000017997" "00000391" "00" "86" "0" "86" "0" "c.86G>A" "" "p.(Gly29Glu)" "r.(?)" "" "" "" "" "" "-" "0000017998" "00000388" "00" "165" "0" "174" "0" "c.165_174del" "" "p.(Pro58Glyfs*23)" "r.(?)" "" "" "" "" "" "-" "0000017998" "00000389" "00" "-133" "0" "-124" "0" "c.-133_-124del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017998" "00000390" "00" "96" "0" "105" "0" "c.96_105del" "" "p.(Pro35Glyfs*23)" "r.(?)" "" "" "" "" "" "-" "0000017998" "00000391" "00" "96" "0" "105" "0" "c.96_105del" "" "p.(Pro35Glyfs*57)" "r.(?)" "" "" "" "" "" "-" "0000017999" "00000388" "00" "171" "0" "171" "0" "c.171del" "" "p.(Pro58Leufs*26)" "r.(?)" "" "" "" "" "" "-" "0000017999" "00000389" "00" "-127" "0" "-127" "0" "c.-127del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017999" "00000390" "00" "102" "0" "102" "0" "c.102del" "" "p.(Pro35Leufs*26)" "r.(?)" "" "" "" "" "" "-" "0000017999" "00000391" "00" "102" "0" "102" "0" "c.102del" "" "p.(Pro35Leufs*60)" "r.(?)" "" "" "" "" "" "-" "0000018000" "00000388" "00" "178" "0" "178" "0" "c.178C>T" "" "p.(Arg60Trp)" "r.(?)" "" "" "" "" "" "-" "0000018000" "00000389" "00" "-120" "0" "-120" "0" "c.-120C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018000" "00000390" "00" "109" "0" "109" "0" "c.109C>T" "" "p.(Arg37Trp)" "r.(?)" "" "" "" "" "" "-" "0000018000" "00000391" "00" "109" "0" "109" "0" "c.109C>T" "" "p.(Arg37Trp)" "r.(?)" "" "" "" "" "" "-" "0000018001" "00000388" "00" "197" "0" "197" "0" "c.197G>A" "" "p.(Gly66Asp)" "r.(?)" "" "" "" "" "" "-" "0000018001" "00000389" "00" "-101" "0" "-101" "0" "c.-101G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018001" "00000390" "00" "128" "0" "128" "0" "c.128G>A" "" "p.(Gly43Asp)" "r.(?)" "" "" "" "" "" "-" "0000018001" "00000391" "00" "128" "0" "128" "0" "c.128G>A" "" "p.(Gly43Asp)" "r.(?)" "" "" "" "" "" "-" "0000018002" "00000388" "00" "207" "2" "207" "2" "c.207+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018002" "00000389" "00" "-91" "2" "-91" "2" "c.-91+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018002" "00000390" "00" "138" "2" "138" "2" "c.138+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018002" "00000391" "00" "138" "2" "138" "2" "c.138+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018003" "00000388" "00" "249" "0" "249" "0" "c.249G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018003" "00000389" "00" "-49" "0" "-49" "0" "c.-49G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018003" "00000390" "00" "180" "0" "180" "0" "c.180G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018003" "00000391" "00" "139" "-99" "139" "-99" "c.139-99G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018004" "00000388" "00" "263" "0" "263" "0" "c.263C>T" "" "p.(Pro88Leu)" "r.(?)" "" "" "" "" "" "-" "0000018004" "00000389" "00" "-35" "0" "-35" "0" "c.-35C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018004" "00000390" "00" "194" "0" "194" "0" "c.194C>T" "" "p.(Pro65Leu)" "r.(?)" "" "" "" "" "" "-" "0000018004" "00000391" "00" "139" "-85" "139" "-85" "c.139-85C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018005" "00000388" "00" "274" "-8" "274" "-8" "c.274-8C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018005" "00000389" "00" "-24" "-8" "-24" "-8" "c.-24-8C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018005" "00000390" "00" "205" "-8" "205" "-8" "c.205-8C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018005" "00000391" "00" "139" "-8" "139" "-8" "c.139-8C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018006" "00000388" "00" "274" "-7" "274" "-7" "c.274-7T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018006" "00000389" "00" "-24" "-7" "-24" "-7" "c.-24-7T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018006" "00000390" "00" "205" "-7" "205" "-7" "c.205-7T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018006" "00000391" "00" "139" "-7" "139" "-7" "c.139-7T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018007" "00000388" "00" "346" "1" "346" "1" "c.346+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018007" "00000389" "00" "49" "1" "49" "1" "c.49+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018007" "00000390" "00" "277" "1" "277" "1" "c.277+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018007" "00000391" "00" "211" "1" "211" "1" "c.211+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018008" "00000388" "00" "346" "6" "346" "6" "c.346+6G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018008" "00000389" "00" "49" "6" "49" "6" "c.49+6G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018008" "00000390" "00" "277" "6" "277" "6" "c.277+6G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018008" "00000391" "00" "211" "6" "211" "6" "c.211+6G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018009" "00000388" "00" "347" "0" "347" "0" "c.347T>C" "" "p.(Val116Ala)" "r.(?)" "" "" "" "" "" "-" "0000018009" "00000389" "00" "50" "0" "50" "0" "c.50T>C" "" "p.(Val17Ala)" "r.(?)" "" "" "" "" "" "-" "0000018009" "00000390" "00" "278" "0" "278" "0" "c.278T>C" "" "p.(Val93Ala)" "r.(?)" "" "" "" "" "" "-" "0000018009" "00000391" "00" "212" "0" "212" "0" "c.212T>C" "" "p.(Val71Ala)" "r.(?)" "" "" "" "" "" "-" "0000018010" "00000388" "00" "364" "0" "365" "0" "c.364_365del" "" "p.(Gln123Valfs*3)" "r.(?)" "" "" "" "" "" "-" "0000018010" "00000389" "00" "67" "0" "68" "0" "c.67_68del" "" "p.(Gln24Valfs*3)" "r.(?)" "" "" "" "" "" "-" "0000018010" "00000390" "00" "295" "0" "296" "0" "c.295_296del" "" "p.(Gln100Valfs*3)" "r.(?)" "" "" "" "" "" "-" "0000018010" "00000391" "00" "229" "0" "230" "0" "c.229_230del" "" "p.(Gln78Valfs*3)" "r.(?)" "" "" "" "" "" "-" "0000018011" "00000388" "00" "376" "0" "377" "0" "c.376_377del" "" "p.(Lys126Argfs*20)" "r.(?)" "" "" "" "" "" "-" "0000018011" "00000389" "00" "79" "0" "80" "0" "c.79_80del" "" "p.(Lys27Argfs*20)" "r.(?)" "" "" "" "" "" "-" "0000018011" "00000390" "00" "307" "0" "308" "0" "c.307_308del" "" "p.(Lys103Argfs*20)" "r.(?)" "" "" "" "" "" "-" "0000018011" "00000391" "00" "241" "0" "242" "0" "c.241_242del" "" "p.(Lys81Argfs*20)" "r.(?)" "" "" "" "" "" "-" "0000018012" "00000388" "00" "377" "0" "377" "0" "c.377A>G" "" "p.(Lys126Arg)" "r.(?)" "" "" "" "" "" "-" "0000018012" "00000389" "00" "80" "0" "80" "0" "c.80A>G" "" "p.(Lys27Arg)" "r.(?)" "" "" "" "" "" "-" "0000018012" "00000390" "00" "308" "0" "308" "0" "c.308A>G" "" "p.(Lys103Arg)" "r.(?)" "" "" "" "" "" "-" "0000018012" "00000391" "00" "242" "0" "242" "0" "c.242A>G" "" "p.(Lys81Arg)" "r.(?)" "" "" "" "" "" "-" "0000018013" "00000388" "00" "394" "0" "394" "0" "c.394G>A" "" "p.(Val132Met)" "r.(?)" "" "" "" "" "" "-" "0000018013" "00000389" "00" "97" "0" "97" "0" "c.97G>A" "" "p.(Val33Met)" "r.(?)" "" "" "" "" "" "-" "0000018013" "00000390" "00" "325" "0" "325" "0" "c.325G>A" "" "p.(Val109Met)" "r.(?)" "" "" "" "" "" "-" "0000018013" "00000391" "00" "259" "0" "259" "0" "c.259G>A" "" "p.(Val87Met)" "r.(?)" "" "" "" "" "" "-" "0000018014" "00000388" "00" "408" "0" "408" "0" "c.408C>A" "" "p.(Phe136Leu)" "r.(?)" "" "" "" "" "" "-" "0000018014" "00000389" "00" "111" "0" "111" "0" "c.111C>A" "" "p.(Phe37Leu)" "r.(?)" "" "" "" "" "" "-" "0000018014" "00000390" "00" "339" "0" "339" "0" "c.339C>A" "" "p.(Phe113Leu)" "r.(?)" "" "" "" "" "" "-" "0000018014" "00000391" "00" "273" "0" "273" "0" "c.273C>A" "" "p.(Phe91Leu)" "r.(?)" "" "" "" "" "" "-" "0000018015" "00000388" "00" "409" "0" "409" "0" "c.409G>A" "" "p.(Glu137Lys)" "r.(?)" "" "" "" "" "" "-" "0000018015" "00000389" "00" "112" "0" "112" "0" "c.112G>A" "" "p.(Glu38Lys)" "r.(?)" "" "" "" "" "" "-" "0000018015" "00000390" "00" "340" "0" "340" "0" "c.340G>A" "" "p.(Glu114Lys)" "r.(?)" "" "" "" "" "" "-" "0000018015" "00000391" "00" "274" "0" "274" "0" "c.274G>A" "" "p.(Glu92Lys)" "r.(?)" "" "" "" "" "" "-" "0000018016" "00000388" "00" "411" "1" "411" "1" "c.411+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018016" "00000389" "00" "114" "1" "114" "1" "c.114+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018016" "00000390" "00" "342" "1" "342" "1" "c.342+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018016" "00000391" "00" "276" "1" "276" "1" "c.276+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018017" "00000388" "00" "412" "-1" "412" "-1" "c.412-1del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018017" "00000389" "00" "115" "-1" "115" "-1" "c.115-1del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018017" "00000390" "00" "343" "-1" "343" "-1" "c.343-1del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018017" "00000391" "00" "277" "-1" "277" "-1" "c.277-1del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018018" "00000388" "00" "453" "0" "455" "0" "c.453_455del" "" "p.(Glu153del)" "r.(?)" "" "" "" "" "" "-" "0000018018" "00000389" "00" "156" "0" "158" "0" "c.156_158del" "" "p.(Glu54del)" "r.(?)" "" "" "" "" "" "-" "0000018018" "00000390" "00" "384" "0" "386" "0" "c.384_386del" "" "p.(Glu130del)" "r.(?)" "" "" "" "" "" "-" "0000018018" "00000391" "00" "318" "0" "320" "0" "c.318_320del" "" "p.(Glu108del)" "r.(?)" "" "" "" "" "" "-" "0000018019" "00000388" "00" "454" "0" "454" "0" "c.454G>A" "" "p.(Glu152Lys)" "r.(?)" "" "" "" "" "" "-" "0000018019" "00000389" "00" "157" "0" "157" "0" "c.157G>A" "" "p.(Glu53Lys)" "r.(?)" "" "" "" "" "" "-" "0000018019" "00000390" "00" "385" "0" "385" "0" "c.385G>A" "" "p.(Glu129Lys)" "r.(?)" "" "" "" "" "" "-" "0000018019" "00000391" "00" "319" "0" "319" "0" "c.319G>A" "" "p.(Glu107Lys)" "r.(?)" "" "" "" "" "" "-" "0000018020" "00000388" "00" "462" "0" "462" "0" "c.462C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018020" "00000389" "00" "165" "0" "165" "0" "c.165C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018020" "00000390" "00" "393" "0" "393" "0" "c.393C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018020" "00000391" "00" "327" "0" "327" "0" "c.327C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018021" "00000388" "00" "500" "0" "500" "0" "c.500T>C" "" "p.(Leu167Pro)" "r.(?)" "" "" "" "" "" "-" "0000018021" "00000389" "00" "203" "0" "203" "0" "c.203T>C" "" "p.(Leu68Pro)" "r.(?)" "" "" "" "" "" "-" "0000018021" "00000390" "00" "431" "0" "431" "0" "c.431T>C" "" "p.(Leu144Pro)" "r.(?)" "" "" "" "" "" "-" "0000018021" "00000391" "00" "365" "0" "365" "0" "c.365T>C" "" "p.(Leu122Pro)" "r.(?)" "" "" "" "" "" "-" "0000018022" "00000388" "00" "502" "0" "502" "0" "c.502C>T" "" "p.(Gln168*)" "r.(?)" "" "" "" "" "" "-" "0000018022" "00000389" "00" "205" "0" "205" "0" "c.205C>T" "" "p.(Gln69*)" "r.(?)" "" "" "" "" "" "-" "0000018022" "00000390" "00" "433" "0" "433" "0" "c.433C>T" "" "p.(Gln145*)" "r.(?)" "" "" "" "" "" "-" "0000018022" "00000391" "00" "367" "0" "367" "0" "c.367C>T" "" "p.(Gln123*)" "r.(?)" "" "" "" "" "" "-" "0000018023" "00000388" "00" "547" "-1" "547" "-1" "c.547-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018023" "00000389" "00" "250" "-1" "250" "-1" "c.250-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018023" "00000390" "00" "478" "-1" "478" "-1" "c.478-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018023" "00000391" "00" "412" "-1" "412" "-1" "c.412-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018024" "00000388" "00" "550" "0" "550" "0" "c.550G>A" "" "p.(Ala184Thr)" "r.(?)" "" "" "" "" "" "-" "0000018024" "00000389" "00" "253" "0" "253" "0" "c.253G>A" "" "p.(Ala85Thr)" "r.(?)" "" "" "" "" "" "-" "0000018024" "00000390" "00" "481" "0" "481" "0" "c.481G>A" "" "p.(Ala161Thr)" "r.(?)" "" "" "" "" "" "-" "0000018024" "00000391" "00" "415" "0" "415" "0" "c.415G>A" "" "p.(Ala139Thr)" "r.(?)" "" "" "" "" "" "-" "0000018025" "00000388" "00" "566" "0" "567" "0" "c.566_567del" "" "p.(Ile189Serfs*5)" "r.(?)" "" "" "" "" "" "-" "0000018025" "00000389" "00" "269" "0" "270" "0" "c.269_270del" "" "p.(Ile90Serfs*5)" "r.(?)" "" "" "" "" "" "-" "0000018025" "00000390" "00" "497" "0" "498" "0" "c.497_498del" "" "p.(Ile166Serfs*5)" "r.(?)" "" "" "" "" "" "-" "0000018025" "00000391" "00" "431" "0" "432" "0" "c.431_432del" "" "p.(Ile144Serfs*5)" "r.(?)" "" "" "" "" "" "-" "0000018026" "00000388" "00" "589" "0" "589" "0" "c.589G>A" "" "p.(Val197Met)" "r.(?)" "" "" "" "" "" "-" "0000018026" "00000389" "00" "292" "0" "292" "0" "c.292G>A" "" "p.(Val98Met)" "r.(?)" "" "" "" "" "" "-" "0000018026" "00000390" "00" "520" "0" "520" "0" "c.520G>A" "" "p.(Val174Met)" "r.(?)" "" "" "" "" "" "-" "0000018026" "00000391" "00" "454" "0" "454" "0" "c.454G>A" "" "p.(Val152Met)" "r.(?)" "" "" "" "" "" "-" "0000018027" "00000388" "00" "611" "0" "611" "0" "c.611A>G" "" "p.(His204Arg)" "r.(?)" "" "" "" "" "" "-" "0000018027" "00000389" "00" "314" "0" "314" "0" "c.314A>G" "" "p.(His105Arg)" "r.(?)" "" "" "" "" "" "-" "0000018027" "00000390" "00" "542" "0" "542" "0" "c.542A>G" "" "p.(His181Arg)" "r.(?)" "" "" "" "" "" "-" "0000018027" "00000391" "00" "476" "0" "476" "0" "c.476A>G" "" "p.(His159Arg)" "r.(?)" "" "" "" "" "" "-" "0000018028" "00000388" "00" "622" "0" "622" "0" "c.622G>A" "" "p.(Gly208Ser)" "r.(?)" "" "" "" "" "" "-" "0000018028" "00000389" "00" "325" "0" "325" "0" "c.325G>A" "" "p.(Gly109Ser)" "r.(?)" "" "" "" "" "" "-" "0000018028" "00000390" "00" "553" "0" "553" "0" "c.553G>A" "" "p.(Gly185Ser)" "r.(?)" "" "" "" "" "" "-" "0000018028" "00000391" "00" "487" "0" "487" "0" "c.487G>A" "" "p.(Gly163Ser)" "r.(?)" "" "" "" "" "" "-" "0000018029" "00000388" "00" "644" "0" "644" "0" "c.644T>C" "" "p.(Phe215Ser)" "r.(?)" "" "" "" "" "" "-" "0000018029" "00000389" "00" "347" "0" "347" "0" "c.347T>C" "" "p.(Phe116Ser)" "r.(?)" "" "" "" "" "" "-" "0000018029" "00000390" "00" "575" "0" "575" "0" "c.575T>C" "" "p.(Phe192Ser)" "r.(?)" "" "" "" "" "" "-" "0000018029" "00000391" "00" "509" "0" "509" "0" "c.509T>C" "" "p.(Phe170Ser)" "r.(?)" "" "" "" "" "" "-" "0000018030" "00000388" "00" "692" "-8" "692" "-8" "c.692-8C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018030" "00000389" "00" "395" "-8" "395" "-8" "c.395-8C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018030" "00000390" "00" "623" "-8" "623" "-8" "c.623-8C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018030" "00000391" "00" "557" "-8" "557" "-8" "c.557-8C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018031" "00000388" "00" "705" "0" "705" "0" "c.705C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018031" "00000389" "00" "408" "0" "408" "0" "c.408C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018031" "00000390" "00" "636" "0" "636" "0" "c.636C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018031" "00000391" "00" "570" "0" "570" "0" "c.570C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018032" "00000388" "00" "706" "0" "706" "0" "c.706G>A" "" "p.(Ala236Thr)" "r.(?)" "" "" "" "" "" "-" "0000018032" "00000389" "00" "409" "0" "409" "0" "c.409G>A" "" "p.(Ala137Thr)" "r.(?)" "" "" "" "" "" "-" "0000018032" "00000390" "00" "637" "0" "637" "0" "c.637G>A" "" "p.(Ala213Thr)" "r.(?)" "" "" "" "" "" "-" "0000018032" "00000391" "00" "571" "0" "571" "0" "c.571G>A" "" "p.(Ala191Thr)" "r.(?)" "" "" "" "" "" "-" "0000018033" "00000388" "00" "710" "0" "713" "0" "c.710_713del" "" "p.(Cys238*)" "r.(?)" "" "" "" "" "" "-" "0000018033" "00000389" "00" "413" "0" "416" "0" "c.413_416del" "" "p.(Cys139*)" "r.(?)" "" "" "" "" "" "-" "0000018033" "00000390" "00" "641" "0" "644" "0" "c.641_644del" "" "p.(Cys215*)" "r.(?)" "" "" "" "" "" "-" "0000018033" "00000391" "00" "575" "0" "578" "0" "c.575_578del" "" "p.(Cys193*)" "r.(?)" "" "" "" "" "" "-" "0000018034" "00000388" "00" "709" "0" "709" "0" "c.709T>G" "" "p.(Phe237Val)" "r.(?)" "" "" "" "" "" "-" "0000018034" "00000389" "00" "412" "0" "412" "0" "c.412T>G" "" "p.(Phe138Val)" "r.(?)" "" "" "" "" "" "-" "0000018034" "00000390" "00" "640" "0" "640" "0" "c.640T>G" "" "p.(Phe214Val)" "r.(?)" "" "" "" "" "" "-" "0000018034" "00000391" "00" "574" "0" "574" "0" "c.574T>G" "" "p.(Phe192Val)" "r.(?)" "" "" "" "" "" "-" "0000018035" "00000388" "00" "721" "0" "721" "0" "c.721G>A" "" "p.(Glu241Lys)" "r.(?)" "" "" "" "" "" "-" "0000018035" "00000389" "00" "424" "0" "424" "0" "c.424G>A" "" "p.(Glu142Lys)" "r.(?)" "" "" "" "" "" "-" "0000018035" "00000390" "00" "652" "0" "652" "0" "c.652G>A" "" "p.(Glu218Lys)" "r.(?)" "" "" "" "" "" "-" "0000018035" "00000391" "00" "586" "0" "586" "0" "c.586G>A" "" "p.(Glu196Lys)" "r.(?)" "" "" "" "" "" "-" "0000018036" "00000388" "00" "733" "0" "733" "0" "c.733G>A" "" "p.(Gly245Arg)" "r.(?)" "" "" "" "" "" "-" "0000018036" "00000389" "00" "436" "0" "436" "0" "c.436G>A" "" "p.(Gly146Arg)" "r.(?)" "" "" "" "" "" "-" "0000018036" "00000390" "00" "664" "0" "664" "0" "c.664G>A" "" "p.(Gly222Arg)" "r.(?)" "" "" "" "" "" "-" "0000018036" "00000391" "00" "598" "0" "598" "0" "c.598G>A" "" "p.(Gly200Arg)" "r.(?)" "" "" "" "" "" "-" "0000018037" "00000388" "00" "754" "0" "754" "0" "c.754C>T" "" "p.(Arg252*)" "r.(?)" "" "" "" "" "" "-" "0000018037" "00000389" "00" "457" "0" "457" "0" "c.457C>T" "" "p.(Arg153*)" "r.(?)" "" "" "" "" "" "-" "0000018037" "00000390" "00" "685" "0" "685" "0" "c.685C>T" "" "p.(Arg229*)" "r.(?)" "" "" "" "" "" "-" "0000018037" "00000391" "00" "619" "0" "619" "0" "c.619C>T" "" "p.(Arg207*)" "r.(?)" "" "" "" "" "" "-" "0000018038" "00000388" "00" "762" "0" "762" "0" "c.762T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018038" "00000389" "00" "465" "0" "465" "0" "c.465T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018038" "00000390" "00" "693" "0" "693" "0" "c.693T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018038" "00000391" "00" "627" "0" "627" "0" "c.627T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018039" "00000388" "00" "777" "0" "778" "0" "c.777_778del" "" "p.(Cys260Trpfs*15)" "r.(?)" "" "" "" "" "" "-" "0000018039" "00000389" "00" "480" "0" "481" "0" "c.480_481del" "" "p.(Cys161Trpfs*15)" "r.(?)" "" "" "" "" "" "-" "0000018039" "00000390" "00" "708" "0" "709" "0" "c.708_709del" "" "p.(Cys237Trpfs*15)" "r.(?)" "" "" "" "" "" "-" "0000018039" "00000391" "00" "642" "0" "643" "0" "c.642_643del" "" "p.(Cys215Trpfs*15)" "r.(?)" "" "" "" "" "" "-" "0000018040" "00000388" "00" "805" "0" "805" "0" "c.805A>G" "" "p.(Ser269Gly)" "r.(?)" "" "" "" "" "" "-" "0000018040" "00000389" "00" "508" "0" "508" "0" "c.508A>G" "" "p.(Ser170Gly)" "r.(?)" "" "" "" "" "" "-" "0000018040" "00000390" "00" "736" "0" "736" "0" "c.736A>G" "" "p.(Ser246Gly)" "r.(?)" "" "" "" "" "" "-" "0000018040" "00000391" "00" "670" "0" "670" "0" "c.670A>G" "" "p.(Ser224Gly)" "r.(?)" "" "" "" "" "" "-" "0000018041" "00000388" "00" "808" "0" "808" "0" "c.808A>C" "" "p.(Lys270Gln)" "r.(?)" "" "" "" "" "" "-" "0000018041" "00000389" "00" "511" "0" "511" "0" "c.511A>C" "" "p.(Lys171Gln)" "r.(?)" "" "" "" "" "" "-" "0000018041" "00000390" "00" "739" "0" "739" "0" "c.739A>C" "" "p.(Lys247Gln)" "r.(?)" "" "" "" "" "" "-" "0000018041" "00000391" "00" "673" "0" "673" "0" "c.673A>C" "" "p.(Lys225Gln)" "r.(?)" "" "" "" "" "" "-" "0000018042" "00000388" "00" "820" "0" "820" "0" "c.820A>G" "" "p.(Ser274Gly)" "r.(?)" "" "" "" "" "" "-" "0000018042" "00000389" "00" "523" "0" "523" "0" "c.523A>G" "" "p.(Ser175Gly)" "r.(?)" "" "" "" "" "" "-" "0000018042" "00000390" "00" "751" "0" "751" "0" "c.751A>G" "" "p.(Ser251Gly)" "r.(?)" "" "" "" "" "" "-" "0000018042" "00000391" "00" "685" "0" "685" "0" "c.685A>G" "" "p.(Ser229Gly)" "r.(?)" "" "" "" "" "" "-" "0000018043" "00000388" "00" "822" "-27" "822" "-27" "c.822-27C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018043" "00000389" "00" "525" "-27" "525" "-27" "c.525-27C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018043" "00000390" "00" "753" "-27" "753" "-27" "c.753-27C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018043" "00000391" "00" "687" "-27" "687" "-27" "c.687-27C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018044" "00000388" "00" "822" "-2" "822" "-2" "c.822-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018044" "00000389" "00" "525" "-2" "525" "-2" "c.525-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018044" "00000390" "00" "753" "-2" "753" "-2" "c.753-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018044" "00000391" "00" "687" "-2" "687" "-2" "c.687-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018045" "00000388" "00" "825" "0" "825" "0" "c.825T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018045" "00000389" "00" "528" "0" "528" "0" "c.528T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018045" "00000390" "00" "756" "0" "756" "0" "c.756T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018045" "00000391" "00" "690" "0" "690" "0" "c.690T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018046" "00000388" "00" "826" "0" "826" "0" "c.826G>A" "" "p.(Gly276Arg)" "r.(?)" "" "" "" "" "" "-" "0000018046" "00000389" "00" "529" "0" "529" "0" "c.529G>A" "" "p.(Gly177Arg)" "r.(?)" "" "" "" "" "" "-" "0000018046" "00000390" "00" "757" "0" "757" "0" "c.757G>A" "" "p.(Gly253Arg)" "r.(?)" "" "" "" "" "" "-" "0000018046" "00000391" "00" "691" "0" "691" "0" "c.691G>A" "" "p.(Gly231Arg)" "r.(?)" "" "" "" "" "" "-" "0000018047" "00000388" "00" "848" "0" "848" "0" "c.848C>T" "" "p.(Thr283Met)" "r.(?)" "" "" "" "" "" "-" "0000018047" "00000389" "00" "551" "0" "551" "0" "c.551C>T" "" "p.(Thr184Met)" "r.(?)" "" "" "" "" "" "-" "0000018047" "00000390" "00" "779" "0" "779" "0" "c.779C>T" "" "p.(Thr260Met)" "r.(?)" "" "" "" "" "" "-" "0000018047" "00000391" "00" "713" "0" "713" "0" "c.713C>T" "" "p.(Thr238Met)" "r.(?)" "" "" "" "" "" "-" "0000018048" "00000388" "00" "867" "0" "870" "0" "c.867_870del" "" "p.(Val290Glnfs*8)" "r.(?)" "" "" "" "" "" "-" "0000018048" "00000389" "00" "570" "0" "573" "0" "c.570_573del" "" "p.(Val191Glnfs*8)" "r.(?)" "" "" "" "" "" "-" "0000018048" "00000390" "00" "798" "0" "801" "0" "c.798_801del" "" "p.(Val267Glnfs*8)" "r.(?)" "" "" "" "" "" "-" "0000018048" "00000391" "00" "732" "0" "735" "0" "c.732_735del" "" "p.(Val245Glnfs*8)" "r.(?)" "" "" "" "" "" "-" "0000018049" "00000388" "00" "887" "0" "887" "0" "c.887G>C" "" "p.(Gly296Ala)" "r.(?)" "" "" "" "" "" "-" "0000018049" "00000389" "00" "590" "0" "590" "0" "c.590G>C" "" "p.(Gly197Ala)" "r.(?)" "" "" "" "" "" "-" "0000018049" "00000390" "00" "818" "0" "818" "0" "c.818G>C" "" "p.(Gly273Ala)" "r.(?)" "" "" "" "" "" "-" "0000018049" "00000391" "00" "752" "0" "752" "0" "c.752G>C" "" "p.(Gly251Ala)" "r.(?)" "" "" "" "" "" "-" "0000018050" "00000388" "00" "892" "0" "915" "0" "c.892_915del" "" "p.(Lys299_Val306del)" "r.(?)" "" "" "" "" "" "-" "0000018050" "00000389" "00" "595" "0" "618" "0" "c.595_618del" "" "p.(Lys200_Val207del)" "r.(?)" "" "" "" "" "" "-" "0000018050" "00000390" "00" "823" "0" "846" "0" "c.823_846del" "" "p.(Lys276_Val283del)" "r.(?)" "" "" "" "" "" "-" "0000018050" "00000391" "00" "757" "0" "780" "0" "c.757_780del" "" "p.(Lys254_Val261del)" "r.(?)" "" "" "" "" "" "-" "0000018051" "00000388" "00" "896" "0" "898" "0" "c.896_898del" "" "p.(Glu300del)" "r.(?)" "" "" "" "" "" "-" "0000018051" "00000389" "00" "599" "0" "601" "0" "c.599_601del" "" "p.(Glu201del)" "r.(?)" "" "" "" "" "" "-" "0000018051" "00000390" "00" "827" "0" "829" "0" "c.827_829del" "" "p.(Glu277del)" "r.(?)" "" "" "" "" "" "-" "0000018051" "00000391" "00" "761" "0" "763" "0" "c.761_763del" "" "p.(Glu255del)" "r.(?)" "" "" "" "" "" "-" "0000018052" "00000388" "00" "899" "0" "901" "0" "c.899_901del" "" "p.(Lys301del)" "r.(?)" "" "" "" "" "" "-" "0000018052" "00000389" "00" "602" "0" "604" "0" "c.602_604del" "" "p.(Lys202del)" "r.(?)" "" "" "" "" "" "-" "0000018052" "00000390" "00" "830" "0" "832" "0" "c.830_832del" "" "p.(Lys278del)" "r.(?)" "" "" "" "" "" "-" "0000018052" "00000391" "00" "764" "0" "766" "0" "c.764_766del" "" "p.(Lys256del)" "r.(?)" "" "" "" "" "" "-" "0000018053" "00000388" "00" "917" "0" "917" "0" "c.917T>C" "" "p.(Val306Ala)" "r.(?)" "" "" "" "" "" "-" "0000018053" "00000389" "00" "620" "0" "620" "0" "c.620T>C" "" "p.(Val207Ala)" "r.(?)" "" "" "" "" "" "-" "0000018053" "00000390" "00" "848" "0" "848" "0" "c.848T>C" "" "p.(Val283Ala)" "r.(?)" "" "" "" "" "" "-" "0000018053" "00000391" "00" "782" "0" "782" "0" "c.782T>C" "" "p.(Val261Ala)" "r.(?)" "" "" "" "" "" "-" "0000018054" "00000388" "00" "933" "0" "933" "0" "c.933del" "" "p.(Phe311Leufs*65)" "r.(?)" "" "" "" "" "" "-" "0000018054" "00000389" "00" "636" "0" "636" "0" "c.636del" "" "p.(Phe212Leufs*65)" "r.(?)" "" "" "" "" "" "-" "0000018054" "00000390" "00" "864" "0" "864" "0" "c.864del" "" "p.(Phe288Leufs*65)" "r.(?)" "" "" "" "" "" "-" "0000018054" "00000391" "00" "798" "0" "798" "0" "c.798del" "" "p.(Phe266Leufs*65)" "r.(?)" "" "" "" "" "" "-" "0000018055" "00000388" "00" "933" "0" "934" "0" "c.933_934insG" "" "p.(Ile314Hisfs*7)" "r.(?)" "" "" "" "" "" "-" "0000018055" "00000389" "00" "636" "0" "637" "0" "c.636_637insG" "" "p.(Ile215Hisfs*7)" "r.(?)" "" "" "" "" "" "-" "0000018055" "00000390" "00" "864" "0" "865" "0" "c.864_865insG" "" "p.(Ile291Hisfs*7)" "r.(?)" "" "" "" "" "" "-" "0000018055" "00000391" "00" "798" "0" "799" "0" "c.798_799insG" "" "p.(Ile269Hisfs*7)" "r.(?)" "" "" "" "" "" "-" "0000018056" "00000388" "00" "933" "0" "933" "0" "c.933C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018056" "00000389" "00" "636" "0" "636" "0" "c.636C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018056" "00000390" "00" "864" "0" "864" "0" "c.864C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018056" "00000391" "00" "798" "0" "798" "0" "c.798C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018057" "00000388" "00" "934" "0" "934" "0" "c.934G>A" "" "p.(Gly312Arg)" "r.(?)" "" "" "" "" "" "-" "0000018057" "00000389" "00" "637" "0" "637" "0" "c.637G>A" "" "p.(Gly213Arg)" "r.(?)" "" "" "" "" "" "-" "0000018057" "00000390" "00" "865" "0" "865" "0" "c.865G>A" "" "p.(Gly289Arg)" "r.(?)" "" "" "" "" "" "-" "0000018057" "00000391" "00" "799" "0" "799" "0" "c.799G>A" "" "p.(Gly267Arg)" "r.(?)" "" "" "" "" "" "-" "0000018058" "00000388" "00" "949" "0" "950" "0" "c.949_950insGGCC" "" "p.(Pro319Alafs*3)" "r.(?)" "" "" "" "" "" "-" "0000018058" "00000389" "00" "652" "0" "653" "0" "c.652_653insGGCC" "" "p.(Pro220Alafs*3)" "r.(?)" "" "" "" "" "" "-" "0000018058" "00000390" "00" "880" "0" "881" "0" "c.880_881insGGCC" "" "p.(Pro296Alafs*3)" "r.(?)" "" "" "" "" "" "-" "0000018058" "00000391" "00" "814" "0" "815" "0" "c.814_815insGGCC" "" "p.(Pro274Alafs*3)" "r.(?)" "" "" "" "" "" "-" "0000018059" "00000388" "00" "950" "0" "950" "0" "c.950G>A" "" "p.(Gly317Glu)" "r.(?)" "" "" "" "" "" "-" "0000018059" "00000389" "00" "653" "0" "653" "0" "c.653G>A" "" "p.(Gly218Glu)" "r.(?)" "" "" "" "" "" "-" "0000018059" "00000390" "00" "881" "0" "881" "0" "c.881G>A" "" "p.(Gly294Glu)" "r.(?)" "" "" "" "" "" "-" "0000018059" "00000391" "00" "815" "0" "815" "0" "c.815G>A" "" "p.(Gly272Glu)" "r.(?)" "" "" "" "" "" "-" "0000018060" "00000388" "00" "956" "0" "957" "0" "c.956_957del" "" "p.(Pro319Argfs*17)" "r.(?)" "" "" "" "" "" "-" "0000018060" "00000389" "00" "659" "0" "660" "0" "c.659_660del" "" "p.(Pro220Argfs*17)" "r.(?)" "" "" "" "" "" "-" "0000018060" "00000390" "00" "887" "0" "888" "0" "c.887_888del" "" "p.(Pro296Argfs*17)" "r.(?)" "" "" "" "" "" "-" "0000018060" "00000391" "00" "821" "0" "822" "0" "c.821_822del" "" "p.(Pro274Argfs*17)" "r.(?)" "" "" "" "" "" "-" "0000018061" "00000388" "00" "959" "0" "961" "0" "c.959_961del" "" "p.(Lys322del)" "r.(?)" "" "" "" "" "" "-" "0000018061" "00000389" "00" "662" "0" "664" "0" "c.662_664del" "" "p.(Lys223del)" "r.(?)" "" "" "" "" "" "-" "0000018061" "00000390" "00" "890" "0" "892" "0" "c.890_892del" "" "p.(Lys299del)" "r.(?)" "" "" "" "" "" "-" "0000018061" "00000391" "00" "824" "0" "826" "0" "c.824_826del" "" "p.(Lys277del)" "r.(?)" "" "" "" "" "" "-" "0000018062" "00000388" "00" "960" "0" "960" "0" "c.960del" "" "p.(Lys321Argfs*55)" "r.(?)" "" "" "" "" "" "-" "0000018062" "00000389" "00" "663" "0" "663" "0" "c.663del" "" "p.(Lys222Argfs*55)" "r.(?)" "" "" "" "" "" "-" "0000018062" "00000390" "00" "891" "0" "891" "0" "c.891del" "" "p.(Lys298Argfs*55)" "r.(?)" "" "" "" "" "" "-" "0000018062" "00000391" "00" "825" "0" "825" "0" "c.825del" "" "p.(Lys276Argfs*55)" "r.(?)" "" "" "" "" "" "-" "0000018063" "00000388" "00" "1016" "0" "1016" "0" "c.1016G>A" "" "p.(Arg339Gln)" "r.(?)" "" "" "" "" "" "-" "0000018063" "00000389" "00" "719" "0" "719" "0" "c.719G>A" "" "p.(Arg240Gln)" "r.(?)" "" "" "" "" "" "-" "0000018063" "00000390" "00" "947" "0" "947" "0" "c.947G>A" "" "p.(Arg316Gln)" "r.(?)" "" "" "" "" "" "-" "0000018063" "00000391" "00" "881" "0" "881" "0" "c.881G>A" "" "p.(Arg294Gln)" "r.(?)" "" "" "" "" "" "-" "0000018064" "00000388" "00" "1022" "0" "1022" "0" "c.1022C>T" "" "p.(Pro341Leu)" "r.(?)" "" "" "" "" "" "-" "0000018064" "00000389" "00" "725" "0" "725" "0" "c.725C>T" "" "p.(Pro242Leu)" "r.(?)" "" "" "" "" "" "-" "0000018064" "00000390" "00" "953" "0" "953" "0" "c.953C>T" "" "p.(Pro318Leu)" "r.(?)" "" "" "" "" "" "-" "0000018064" "00000391" "00" "887" "0" "887" "0" "c.887C>T" "" "p.(Pro296Leu)" "r.(?)" "" "" "" "" "" "-" "0000018065" "00000388" "00" "1038" "0" "1038" "0" "c.1038G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018065" "00000389" "00" "741" "0" "741" "0" "c.741G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018065" "00000390" "00" "969" "0" "969" "0" "c.969G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018065" "00000391" "00" "903" "0" "903" "0" "c.903G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018066" "00000388" "00" "1063" "0" "1063" "0" "c.1063G>A" "" "p.(Val355Ile)" "r.(?)" "" "" "" "" "" "-" "0000018066" "00000389" "00" "766" "0" "766" "0" "c.766G>A" "" "p.(Val256Ile)" "r.(?)" "" "" "" "" "" "-" "0000018066" "00000390" "00" "994" "0" "994" "0" "c.994G>A" "" "p.(Val332Ile)" "r.(?)" "" "" "" "" "" "-" "0000018066" "00000391" "00" "928" "0" "928" "0" "c.928G>A" "" "p.(Val310Ile)" "r.(?)" "" "" "" "" "" "-" "0000018067" "00000388" "00" "1063" "0" "1064" "0" "c.1063_1064insT" "" "p.(Ala356Cysfs*26)" "r.(?)" "" "" "" "" "" "-" "0000018067" "00000389" "00" "766" "0" "767" "0" "c.766_767insT" "" "p.(Ala257Cysfs*26)" "r.(?)" "" "" "" "" "" "-" "0000018067" "00000390" "00" "994" "0" "995" "0" "c.994_995insT" "" "p.(Ala333Cysfs*26)" "r.(?)" "" "" "" "" "" "-" "0000018067" "00000391" "00" "928" "0" "929" "0" "c.928_929insT" "" "p.(Ala311Cysfs*26)" "r.(?)" "" "" "" "" "" "-" "0000018068" "00000388" "00" "1064" "0" "1064" "0" "c.1064del" "" "p.(Ala356Profs*20)" "r.(?)" "" "" "" "" "" "-" "0000018068" "00000389" "00" "767" "0" "767" "0" "c.767del" "" "p.(Ala257Profs*20)" "r.(?)" "" "" "" "" "" "-" "0000018068" "00000390" "00" "995" "0" "995" "0" "c.995del" "" "p.(Ala333Profs*20)" "r.(?)" "" "" "" "" "" "-" "0000018068" "00000391" "00" "929" "0" "929" "0" "c.929del" "" "p.(Ala311Profs*20)" "r.(?)" "" "" "" "" "" "-" "0000018069" "00000388" "00" "1074" "0" "1074" "0" "c.1074C>A" "" "p.(His358Gln)" "r.(?)" "" "" "" "" "" "-" "0000018069" "00000389" "00" "777" "0" "777" "0" "c.777C>A" "" "p.(His259Gln)" "r.(?)" "" "" "" "" "" "-" "0000018069" "00000390" "00" "1005" "0" "1005" "0" "c.1005C>A" "" "p.(His335Gln)" "r.(?)" "" "" "" "" "" "-" "0000018069" "00000391" "00" "939" "0" "939" "0" "c.939C>A" "" "p.(His313Gln)" "r.(?)" "" "" "" "" "" "-" "0000018070" "00000388" "00" "1088" "0" "1088" "0" "c.1088G>T" "" "p.(Gly363Val)" "r.(?)" "" "" "" "" "" "-" "0000018070" "00000389" "00" "791" "0" "791" "0" "c.791G>T" "" "p.(Gly264Val)" "r.(?)" "" "" "" "" "" "-" "0000018070" "00000390" "00" "1019" "0" "1019" "0" "c.1019G>T" "" "p.(Gly340Val)" "r.(?)" "" "" "" "" "" "-" "0000018070" "00000391" "00" "953" "0" "953" "0" "c.953G>T" "" "p.(Gly318Val)" "r.(?)" "" "" "" "" "" "-" "0000018071" "00000388" "00" "1107" "0" "1107" "0" "c.1107G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018071" "00000389" "00" "810" "0" "810" "0" "c.810G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018071" "00000390" "00" "1038" "0" "1038" "0" "c.1038G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018071" "00000391" "00" "972" "0" "972" "0" "c.972G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018072" "00000388" "00" "1135" "0" "1135" "0" "c.1135A>G" "" "p.(Ile379Val)" "r.(?)" "" "" "" "" "" "-" "0000018072" "00000389" "00" "838" "0" "838" "0" "c.838A>G" "" "p.(Ile280Val)" "r.(?)" "" "" "" "" "" "-" "0000018072" "00000390" "00" "1066" "0" "1066" "0" "c.1066A>G" "" "p.(Ile356Val)" "r.(?)" "" "" "" "" "" "-" "0000018072" "00000391" "00" "1000" "0" "1000" "0" "c.1000A>G" "" "p.(Ile334Val)" "r.(?)" "" "" "" "" "" "-" "0000018073" "00000388" "00" "1145" "0" "1145" "0" "c.1145C>T" "" "p.(Ala382Val)" "r.(?)" "" "" "" "" "" "-" "0000018073" "00000389" "00" "848" "0" "848" "0" "c.848C>T" "" "p.(Ala283Val)" "r.(?)" "" "" "" "" "" "-" "0000018073" "00000390" "00" "1076" "0" "1076" "0" "c.1076C>T" "" "p.(Ala359Val)" "r.(?)" "" "" "" "" "" "-" "0000018073" "00000391" "00" "1010" "0" "1010" "0" "c.1010C>T" "" "p.(Ala337Val)" "r.(?)" "" "" "" "" "" "-" "0000018074" "00000388" "00" "1146" "0" "1146" "1" "c.1146_1146+1delinsCAC" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018074" "00000389" "00" "849" "0" "849" "1" "c.849_849+1delinsCAC" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018074" "00000390" "00" "1077" "0" "1077" "1" "c.1077_1077+1delinsCAC" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018074" "00000391" "00" "1011" "0" "1011" "1" "c.1011_1011+1delinsCAC" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018075" "00000388" "00" "1146" "0" "1146" "0" "c.1146G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018075" "00000389" "00" "849" "0" "849" "0" "c.849G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018075" "00000390" "00" "1077" "0" "1077" "0" "c.1077G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018075" "00000391" "00" "1011" "0" "1011" "0" "c.1011G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018076" "00000388" "00" "1146" "1" "1146" "1" "c.1146+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018076" "00000389" "00" "849" "1" "849" "1" "c.849+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018076" "00000390" "00" "1077" "1" "1077" "1" "c.1077+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018076" "00000391" "00" "1011" "1" "1011" "1" "c.1011+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018077" "00000388" "00" "1146" "2" "1146" "2" "c.1146+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018077" "00000389" "00" "849" "2" "849" "2" "c.849+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018077" "00000390" "00" "1077" "2" "1077" "2" "c.1077+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018077" "00000391" "00" "1011" "2" "1011" "2" "c.1011+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018078" "00000388" "00" "1166" "0" "1166" "0" "c.1166G>A" "" "p.(Arg389His)" "r.(?)" "" "" "" "" "" "-" "0000018078" "00000389" "00" "869" "0" "869" "0" "c.869G>A" "" "p.(Arg290His)" "r.(?)" "" "" "" "" "" "-" "0000018078" "00000390" "00" "1097" "0" "1097" "0" "c.1097G>A" "" "p.(Arg366His)" "r.(?)" "" "" "" "" "" "-" "0000018078" "00000391" "00" "1031" "0" "1031" "0" "c.1031G>A" "" "p.(Arg344His)" "r.(?)" "" "" "" "" "" "-" "0000018079" "00000388" "00" "1172" "0" "1172" "0" "c.1172A>C" "" "p.(Gln391Pro)" "r.(?)" "" "" "" "" "" "-" "0000018079" "00000389" "00" "875" "0" "875" "0" "c.875A>C" "" "p.(Gln292Pro)" "r.(?)" "" "" "" "" "" "-" "0000018079" "00000390" "00" "1103" "0" "1103" "0" "c.1103A>C" "" "p.(Gln368Pro)" "r.(?)" "" "" "" "" "" "-" "0000018079" "00000391" "00" "1037" "0" "1037" "0" "c.1037A>C" "" "p.(Gln346Pro)" "r.(?)" "" "" "" "" "" "-" "0000018080" "00000388" "00" "1175" "0" "1175" "0" "c.1175T>C" "" "p.(Phe392Ser)" "r.(?)" "" "" "" "" "" "-" "0000018080" "00000389" "00" "878" "0" "878" "0" "c.878T>C" "" "p.(Phe293Ser)" "r.(?)" "" "" "" "" "" "-" "0000018080" "00000390" "00" "1106" "0" "1106" "0" "c.1106T>C" "" "p.(Phe369Ser)" "r.(?)" "" "" "" "" "" "-" "0000018080" "00000391" "00" "1040" "0" "1040" "0" "c.1040T>C" "" "p.(Phe347Ser)" "r.(?)" "" "" "" "" "" "-" "0000018081" "00000388" "00" "1182" "0" "1182" "0" "c.1182del" "" "p.(Ile396Phefs*6)" "r.(?)" "" "" "" "" "" "-" "0000018081" "00000389" "00" "885" "0" "885" "0" "c.885del" "" "p.(Ile297Phefs*6)" "r.(?)" "" "" "" "" "" "-" "0000018081" "00000390" "00" "1113" "0" "1113" "0" "c.1113del" "" "p.(Ile373Phefs*6)" "r.(?)" "" "" "" "" "" "-" "0000018081" "00000391" "00" "1047" "0" "1047" "0" "c.1047del" "" "p.(Ile351Phefs*6)" "r.(?)" "" "" "" "" "" "-" "0000018082" "00000388" "00" "1196" "0" "1196" "0" "c.1196T>C" "" "p.(Phe399Ser)" "r.(?)" "" "" "" "" "" "-" "0000018082" "00000389" "00" "899" "0" "899" "0" "c.899T>C" "" "p.(Phe300Ser)" "r.(?)" "" "" "" "" "" "-" "0000018082" "00000390" "00" "1127" "0" "1127" "0" "c.1127T>C" "" "p.(Phe376Ser)" "r.(?)" "" "" "" "" "" "-" "0000018082" "00000391" "00" "1061" "0" "1061" "0" "c.1061T>C" "" "p.(Phe354Ser)" "r.(?)" "" "" "" "" "" "-" "0000018083" "00000388" "00" "1208" "0" "1210" "0" "c.1208_1210del" "" "p.(Glu404del)" "r.(?)" "" "" "" "" "" "-" "0000018083" "00000389" "00" "911" "0" "913" "0" "c.911_913del" "" "p.(Glu305del)" "r.(?)" "" "" "" "" "" "-" "0000018083" "00000390" "00" "1139" "0" "1141" "0" "c.1139_1141del" "" "p.(Glu381del)" "r.(?)" "" "" "" "" "" "-" "0000018083" "00000391" "00" "1073" "0" "1075" "0" "c.1073_1075del" "" "p.(Glu359del)" "r.(?)" "" "" "" "" "" "-" "0000018084" "00000388" "00" "1213" "0" "1213" "0" "c.1213A>C" "" "p.(Lys405Gln)" "r.(?)" "" "" "" "" "" "-" "0000018084" "00000389" "00" "916" "0" "916" "0" "c.916A>C" "" "p.(Lys306Gln)" "r.(?)" "" "" "" "" "" "-" "0000018084" "00000390" "00" "1144" "0" "1144" "0" "c.1144A>C" "" "p.(Lys382Gln)" "r.(?)" "" "" "" "" "" "-" "0000018084" "00000391" "00" "1078" "0" "1078" "0" "c.1078A>C" "" "p.(Lys360Gln)" "r.(?)" "" "" "" "" "" "-" "0000018085" "00000388" "00" "1251" "1" "1251" "1" "c.1251+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018085" "00000389" "00" "954" "1" "954" "1" "c.954+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018085" "00000390" "00" "1182" "1" "1182" "1" "c.1182+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018085" "00000391" "00" "1116" "1" "1116" "1" "c.1116+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018086" "00000388" "00" "1252" "-1" "1252" "-1" "c.1252-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018086" "00000389" "00" "955" "-1" "955" "-1" "c.955-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018086" "00000390" "00" "1183" "-1" "1183" "-1" "c.1183-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018086" "00000391" "00" "1117" "-1" "1117" "-1" "c.1117-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018087" "00000388" "00" "1289" "0" "1289" "0" "c.1289G>C" "" "p.(Gly430Ala)" "r.(?)" "" "" "" "" "" "-" "0000018087" "00000389" "00" "992" "0" "992" "0" "c.992G>C" "" "p.(Gly331Ala)" "r.(?)" "" "" "" "" "" "-" "0000018087" "00000390" "00" "1220" "0" "1220" "0" "c.1220G>C" "" "p.(Gly407Ala)" "r.(?)" "" "" "" "" "" "-" "0000018087" "00000391" "00" "1154" "0" "1154" "0" "c.1154G>C" "" "p.(Gly385Ala)" "r.(?)" "" "" "" "" "" "-" "0000018088" "00000388" "00" "1295" "0" "1295" "0" "c.1295C>T" "" "p.(Thr432Met)" "r.(?)" "" "" "" "" "" "-" "0000018088" "00000389" "00" "998" "0" "998" "0" "c.998C>T" "" "p.(Thr333Met)" "r.(?)" "" "" "" "" "" "-" "0000018088" "00000390" "00" "1226" "0" "1226" "0" "c.1226C>T" "" "p.(Thr409Met)" "r.(?)" "" "" "" "" "" "-" "0000018088" "00000391" "00" "1160" "0" "1160" "0" "c.1160C>T" "" "p.(Thr387Met)" "r.(?)" "" "" "" "" "" "-" "0000018089" "00000388" "00" "1308" "0" "1308" "0" "c.1308A>G" "" "p.(Ile436Met)" "r.(?)" "" "" "" "" "" "-" "0000018089" "00000389" "00" "1011" "0" "1011" "0" "c.1011A>G" "" "p.(Ile337Met)" "r.(?)" "" "" "" "" "" "-" "0000018089" "00000390" "00" "1239" "0" "1239" "0" "c.1239A>G" "" "p.(Ile413Met)" "r.(?)" "" "" "" "" "" "-" "0000018089" "00000391" "00" "1173" "0" "1173" "0" "c.1173A>G" "" "p.(Ile391Met)" "r.(?)" "" "" "" "" "" "-" "0000018090" "00000388" "00" "1315" "0" "1315" "0" "c.1315G>A" "" "p.(Ala439Thr)" "r.(?)" "" "" "" "" "" "-" "0000018090" "00000389" "00" "1018" "0" "1018" "0" "c.1018G>A" "" "p.(Ala340Thr)" "r.(?)" "" "" "" "" "" "-" "0000018090" "00000390" "00" "1246" "0" "1246" "0" "c.1246G>A" "" "p.(Ala416Thr)" "r.(?)" "" "" "" "" "" "-" "0000018090" "00000391" "00" "1180" "0" "1180" "0" "c.1180G>A" "" "p.(Ala394Thr)" "r.(?)" "" "" "" "" "" "-" "0000018091" "00000388" "00" "1322" "0" "1322" "0" "c.1322G>A" "" "p.(Ser441Asn)" "r.(?)" "" "" "" "" "" "-" "0000018091" "00000389" "00" "1025" "0" "1025" "0" "c.1025G>A" "" "p.(Ser342Asn)" "r.(?)" "" "" "" "" "" "-" "0000018091" "00000390" "00" "1253" "0" "1253" "0" "c.1253G>A" "" "p.(Ser418Asn)" "r.(?)" "" "" "" "" "" "-" "0000018091" "00000391" "00" "1187" "0" "1187" "0" "c.1187G>A" "" "p.(Ser396Asn)" "r.(?)" "" "" "" "" "" "-" "0000018092" "00000388" "00" "1338" "10" "1338" "10" "c.1338+10C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018092" "00000389" "00" "1041" "10" "1041" "10" "c.1041+10C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018092" "00000390" "00" "1269" "10" "1269" "10" "c.1269+10C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018092" "00000391" "00" "1203" "10" "1203" "10" "c.1203+10C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018093" "00000388" "00" "1342" "0" "1342" "0" "c.1342G>A" "" "p.(Ala448Thr)" "r.(?)" "" "" "" "" "" "-" "0000018093" "00000389" "00" "1045" "0" "1045" "0" "c.1045G>A" "" "p.(Ala349Thr)" "r.(?)" "" "" "" "" "" "-" "0000018093" "00000390" "00" "1273" "0" "1273" "0" "c.1273G>A" "" "p.(Ala425Thr)" "r.(?)" "" "" "" "" "" "-" "0000018093" "00000391" "00" "1207" "0" "1207" "0" "c.1207G>A" "" "p.(Ala403Thr)" "r.(?)" "" "" "" "" "" "-" "0000018094" "00000388" "00" "1349" "0" "1349" "0" "c.1349G>A" "" "p.(Trp450*)" "r.(?)" "" "" "" "" "" "-" "0000018094" "00000389" "00" "1052" "0" "1052" "0" "c.1052G>A" "" "p.(Trp351*)" "r.(?)" "" "" "" "" "" "-" "0000018094" "00000390" "00" "1280" "0" "1280" "0" "c.1280G>A" "" "p.(Trp427*)" "r.(?)" "" "" "" "" "" "-" "0000018094" "00000391" "00" "1214" "0" "1214" "0" "c.1214G>A" "" "p.(Trp405*)" "r.(?)" "" "" "" "" "" "-" "0000018095" "00000388" "00" "1353" "0" "1353" "0" "c.1353G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018095" "00000389" "00" "1056" "0" "1056" "0" "c.1056G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018095" "00000390" "00" "1284" "0" "1284" "0" "c.1284G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018095" "00000391" "00" "1218" "0" "1218" "0" "c.1218G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018096" "00000388" "00" "1366" "0" "1366" "0" "c.1366T>C" "" "p.(Cys456Arg)" "r.(?)" "" "" "" "" "" "-" "0000018096" "00000389" "00" "1069" "0" "1069" "0" "c.1069T>C" "" "p.(Cys357Arg)" "r.(?)" "" "" "" "" "" "-" "0000018096" "00000390" "00" "1297" "0" "1297" "0" "c.1297T>C" "" "p.(Cys433Arg)" "r.(?)" "" "" "" "" "" "-" "0000018096" "00000391" "00" "1231" "0" "1231" "0" "c.1231T>C" "" "p.(Cys411Arg)" "r.(?)" "" "" "" "" "" "-" "0000018097" "00000388" "00" "1382" "0" "1382" "0" "c.1382G>A" "" "p.(Gly461Glu)" "r.(?)" "" "" "" "" "" "-" "0000018097" "00000389" "00" "1085" "0" "1085" "0" "c.1085G>A" "" "p.(Gly362Glu)" "r.(?)" "" "" "" "" "" "-" "0000018097" "00000390" "00" "1313" "0" "1313" "0" "c.1313G>A" "" "p.(Gly438Glu)" "r.(?)" "" "" "" "" "" "-" "0000018097" "00000391" "00" "1247" "0" "1247" "0" "c.1247G>A" "" "p.(Gly416Glu)" "r.(?)" "" "" "" "" "" "-" "0000018098" "00000388" "00" "1391" "0" "1391" "0" "c.1391G>A" "" "p.(Gly464Asp)" "r.(?)" "" "" "" "" "" "-" "0000018098" "00000389" "00" "1094" "0" "1094" "0" "c.1094G>A" "" "p.(Gly365Asp)" "r.(?)" "" "" "" "" "" "-" "0000018098" "00000390" "00" "1322" "0" "1322" "0" "c.1322G>A" "" "p.(Gly441Asp)" "r.(?)" "" "" "" "" "" "-" "0000018098" "00000391" "00" "1256" "0" "1256" "0" "c.1256G>A" "" "p.(Gly419Asp)" "r.(?)" "" "" "" "" "" "-" "0000018099" "00000388" "00" "1402" "-7" "1402" "-7" "c.1402-7G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018099" "00000389" "00" "1105" "-7" "1105" "-7" "c.1105-7G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018099" "00000390" "00" "1333" "-7" "1333" "-7" "c.1333-7G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018099" "00000391" "00" "1267" "-7" "1267" "-7" "c.1267-7G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018100" "00000388" "00" "1402" "-2" "1402" "-2" "c.1402-2A>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018100" "00000389" "00" "1105" "-2" "1105" "-2" "c.1105-2A>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018100" "00000390" "00" "1333" "-2" "1333" "-2" "c.1333-2A>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018100" "00000391" "00" "1267" "-2" "1267" "-2" "c.1267-2A>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018101" "00000388" "00" "1409" "0" "1409" "0" "c.1409G>A" "" "p.(Gly470Glu)" "r.(?)" "" "" "" "" "" "-" "0000018101" "00000389" "00" "1112" "0" "1112" "0" "c.1112G>A" "" "p.(Gly371Glu)" "r.(?)" "" "" "" "" "" "-" "0000018101" "00000390" "00" "1340" "0" "1340" "0" "c.1340G>A" "" "p.(Gly447Glu)" "r.(?)" "" "" "" "" "" "-" "0000018101" "00000391" "00" "1274" "0" "1274" "0" "c.1274G>A" "" "p.(Gly425Glu)" "r.(?)" "" "" "" "" "" "-" "0000018102" "00000388" "00" "1418" "0" "1418" "0" "c.1418G>A" "" "p.(Arg473His)" "r.(?)" "" "" "" "" "" "-" "0000018102" "00000389" "00" "1121" "0" "1121" "0" "c.1121G>A" "" "p.(Arg374His)" "r.(?)" "" "" "" "" "" "-" "0000018102" "00000390" "00" "1349" "0" "1349" "0" "c.1349G>A" "" "p.(Arg450His)" "r.(?)" "" "" "" "" "" "-" "0000018102" "00000391" "00" "1283" "0" "1283" "0" "c.1283G>A" "" "p.(Arg428His)" "r.(?)" "" "" "" "" "" "-" "0000018103" "00000388" "00" "1423" "0" "1424" "0" "c.1423_1424insT" "" "p.(Arg476Profs*10)" "r.(?)" "" "" "" "" "" "-" "0000018103" "00000389" "00" "1126" "0" "1127" "0" "c.1126_1127insT" "" "p.(Arg377Profs*10)" "r.(?)" "" "" "" "" "" "-" "0000018103" "00000390" "00" "1354" "0" "1355" "0" "c.1354_1355insT" "" "p.(Arg453Profs*10)" "r.(?)" "" "" "" "" "" "-" "0000018103" "00000391" "00" "1288" "0" "1289" "0" "c.1288_1289insT" "" "p.(Arg431Profs*10)" "r.(?)" "" "" "" "" "" "-" "0000018104" "00000388" "00" "1426" "0" "1426" "0" "c.1426C>T" "" "p.(Arg476*)" "r.(?)" "" "" "" "" "" "-" "0000018104" "00000389" "00" "1129" "0" "1129" "0" "c.1129C>T" "" "p.(Arg377*)" "r.(?)" "" "" "" "" "" "-" "0000018104" "00000390" "00" "1357" "0" "1357" "0" "c.1357C>T" "" "p.(Arg453*)" "r.(?)" "" "" "" "" "" "-" "0000018104" "00000391" "00" "1291" "0" "1291" "0" "c.1291C>T" "" "p.(Arg431*)" "r.(?)" "" "" "" "" "" "-" "0000018105" "00000388" "00" "1436" "0" "1436" "0" "c.1436G>A" "" "p.(Arg479His)" "r.(?)" "" "" "" "" "" "-" "0000018105" "00000389" "00" "1139" "0" "1139" "0" "c.1139G>A" "" "p.(Arg380His)" "r.(?)" "" "" "" "" "" "-" "0000018105" "00000390" "00" "1367" "0" "1367" "0" "c.1367G>A" "" "p.(Arg456His)" "r.(?)" "" "" "" "" "" "-" "0000018105" "00000391" "00" "1301" "0" "1301" "0" "c.1301G>A" "" "p.(Arg434His)" "r.(?)" "" "" "" "" "" "-" "0000018106" "00000388" "00" "1441" "0" "1441" "0" "c.1441T>C" "" "p.(Phe481Leu)" "r.(?)" "" "" "" "" "" "-" "0000018106" "00000389" "00" "1144" "0" "1144" "0" "c.1144T>C" "" "p.(Phe382Leu)" "r.(?)" "" "" "" "" "" "-" "0000018106" "00000390" "00" "1372" "0" "1372" "0" "c.1372T>C" "" "p.(Phe458Leu)" "r.(?)" "" "" "" "" "" "-" "0000018106" "00000391" "00" "1306" "0" "1306" "0" "c.1306T>C" "" "p.(Phe436Leu)" "r.(?)" "" "" "" "" "" "-" "0000018107" "00000388" "00" "1442" "0" "1443" "0" "c.1442_1443insC" "" "p.(Arg482Profs*4)" "r.(?)" "" "" "" "" "" "-" "0000018107" "00000389" "00" "1145" "0" "1146" "0" "c.1145_1146insC" "" "p.(Arg383Profs*4)" "r.(?)" "" "" "" "" "" "-" "0000018107" "00000390" "00" "1373" "0" "1374" "0" "c.1373_1374insC" "" "p.(Arg459Profs*4)" "r.(?)" "" "" "" "" "" "-" "0000018107" "00000391" "00" "1307" "0" "1308" "0" "c.1307_1308insC" "" "p.(Arg437Profs*4)" "r.(?)" "" "" "" "" "" "-" "0000018108" "00000388" "00" "1444" "0" "1444" "0" "c.1444C>T" "" "p.(Arg482Trp)" "r.(?)" "" "" "" "" "" "-" "0000018108" "00000389" "00" "1147" "0" "1147" "0" "c.1147C>T" "" "p.(Arg383Trp)" "r.(?)" "" "" "" "" "" "-" "0000018108" "00000390" "00" "1375" "0" "1375" "0" "c.1375C>T" "" "p.(Arg459Trp)" "r.(?)" "" "" "" "" "" "-" "0000018108" "00000391" "00" "1309" "0" "1309" "0" "c.1309C>T" "" "p.(Arg437Trp)" "r.(?)" "" "" "" "" "" "-" "0000018109" "00000388" "00" "1445" "0" "1445" "0" "c.1445G>A" "" "p.(Arg482Gln)" "r.(?)" "" "" "" "" "" "-" "0000018109" "00000389" "00" "1148" "0" "1148" "0" "c.1148G>A" "" "p.(Arg383Gln)" "r.(?)" "" "" "" "" "" "-" "0000018109" "00000390" "00" "1376" "0" "1376" "0" "c.1376G>A" "" "p.(Arg459Gln)" "r.(?)" "" "" "" "" "" "-" "0000018109" "00000391" "00" "1310" "0" "1310" "0" "c.1310G>A" "" "p.(Arg437Gln)" "r.(?)" "" "" "" "" "" "-" "0000018110" "00000388" "00" "1445" "0" "1445" "0" "c.1445G>C" "" "p.(Arg482Pro)" "r.(?)" "" "" "" "" "" "-" "0000018110" "00000389" "00" "1148" "0" "1148" "0" "c.1148G>C" "" "p.(Arg383Pro)" "r.(?)" "" "" "" "" "" "-" "0000018110" "00000390" "00" "1376" "0" "1376" "0" "c.1376G>C" "" "p.(Arg459Pro)" "r.(?)" "" "" "" "" "" "-" "0000018110" "00000391" "00" "1310" "0" "1310" "0" "c.1310G>C" "" "p.(Arg437Pro)" "r.(?)" "" "" "" "" "" "-" "0000018111" "00000388" "00" "1454" "0" "1455" "0" "c.1454_1455insG" "" "p.(Thr487Aspfs*3)" "r.(?)" "" "" "" "" "" "-" "0000018111" "00000389" "00" "1157" "0" "1158" "0" "c.1157_1158insG" "" "p.(Thr388Aspfs*3)" "r.(?)" "" "" "" "" "" "-" "0000018111" "00000390" "00" "1385" "0" "1386" "0" "c.1385_1386insG" "" "p.(Thr464Aspfs*3)" "r.(?)" "" "" "" "" "" "-" "0000018111" "00000391" "00" "1319" "0" "1320" "0" "c.1319_1320insG" "" "p.(Thr442Aspfs*3)" "r.(?)" "" "" "" "" "" "-" "0000018112" "00000388" "00" "1460" "0" "1460" "0" "c.1460C>T" "" "p.(Thr487Ile)" "r.(?)" "" "" "" "" "" "-" "0000018112" "00000389" "00" "1163" "0" "1163" "0" "c.1163C>T" "" "p.(Thr388Ile)" "r.(?)" "" "" "" "" "" "-" "0000018112" "00000390" "00" "1391" "0" "1391" "0" "c.1391C>T" "" "p.(Thr464Ile)" "r.(?)" "" "" "" "" "" "-" "0000018112" "00000391" "00" "1325" "0" "1325" "0" "c.1325C>T" "" "p.(Thr442Ile)" "r.(?)" "" "" "" "" "" "-" "0000018113" "00000388" "00" "1474" "0" "1474" "0" "c.1474C>T" "" "p.(Arg492Trp)" "r.(?)" "" "" "" "" "" "-" "0000018113" "00000389" "00" "1177" "0" "1177" "0" "c.1177C>T" "" "p.(Arg393Trp)" "r.(?)" "" "" "" "" "" "-" "0000018113" "00000390" "00" "1405" "0" "1405" "0" "c.1405C>T" "" "p.(Arg469Trp)" "r.(?)" "" "" "" "" "" "-" "0000018113" "00000391" "00" "1339" "0" "1339" "0" "c.1339C>T" "" "p.(Arg447Trp)" "r.(?)" "" "" "" "" "" "-" "0000018114" "00000388" "00" "1475" "0" "1475" "0" "c.1475G>A" "" "p.(Arg492Gln)" "r.(?)" "" "" "" "" "" "-" "0000018114" "00000389" "00" "1178" "0" "1178" "0" "c.1178G>A" "" "p.(Arg393Gln)" "r.(?)" "" "" "" "" "" "-" "0000018114" "00000390" "00" "1406" "0" "1406" "0" "c.1406G>A" "" "p.(Arg469Gln)" "r.(?)" "" "" "" "" "" "-" "0000018114" "00000391" "00" "1340" "0" "1340" "0" "c.1340G>A" "" "p.(Arg447Gln)" "r.(?)" "" "" "" "" "" "-" "0000018115" "00000388" "00" "1503" "14" "1503" "14" "c.1503+14T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018115" "00000389" "00" "1206" "14" "1206" "14" "c.1206+14T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018115" "00000390" "00" "1434" "14" "1434" "14" "c.1434+14T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018115" "00000391" "00" "1368" "14" "1368" "14" "c.1368+14T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018116" "00000388" "00" "1521" "0" "1521" "0" "c.1521C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018116" "00000389" "00" "1224" "0" "1224" "0" "c.1224C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018116" "00000390" "00" "1452" "0" "1452" "0" "c.1452C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018116" "00000391" "00" "1386" "0" "1386" "0" "c.1386C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018117" "00000388" "00" "1537" "0" "1537" "0" "c.1537G>C" "" "p.(Ala513Pro)" "r.(?)" "" "" "" "" "" "-" "0000018117" "00000389" "00" "1240" "0" "1240" "0" "c.1240G>C" "" "p.(Ala414Pro)" "r.(?)" "" "" "" "" "" "-" "0000018117" "00000390" "00" "1468" "0" "1468" "0" "c.1468G>C" "" "p.(Ala490Pro)" "r.(?)" "" "" "" "" "" "-" "0000018117" "00000391" "00" "1402" "0" "1402" "0" "c.1402G>C" "" "p.(Ala468Pro)" "r.(?)" "" "" "" "" "" "-" "0000018118" "00000388" "00" "1542" "0" "1542" "0" "c.1542A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018118" "00000389" "00" "1245" "0" "1245" "0" "c.1245A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018118" "00000390" "00" "1473" "0" "1473" "0" "c.1473A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018118" "00000391" "00" "1407" "0" "1407" "0" "c.1407A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018119" "00000388" "00" "1573" "0" "1573" "0" "c.1573C>G" "" "p.(Leu525Val)" "r.(?)" "" "" "" "" "" "-" "0000018119" "00000389" "00" "1276" "0" "1276" "0" "c.1276C>G" "" "p.(Leu426Val)" "r.(?)" "" "" "" "" "" "-" "0000018119" "00000390" "00" "1504" "0" "1504" "0" "c.1504C>G" "" "p.(Leu502Val)" "r.(?)" "" "" "" "" "" "-" "0000018119" "00000391" "00" "1438" "0" "1438" "0" "c.1438C>G" "" "p.(Leu480Val)" "r.(?)" "" "" "" "" "" "-" "0000018120" "00000388" "00" "1601" "0" "1601" "0" "c.1601G>A" "" "p.(Arg534Gln)" "r.(?)" "" "" "" "" "" "-" "0000018120" "00000389" "00" "1304" "0" "1304" "0" "c.1304G>A" "" "p.(Arg435Gln)" "r.(?)" "" "" "" "" "" "-" "0000018120" "00000390" "00" "1532" "0" "1532" "0" "c.1532G>A" "" "p.(Arg511Gln)" "r.(?)" "" "" "" "" "" "-" "0000018120" "00000391" "00" "1466" "0" "1466" "0" "c.1466G>A" "" "p.(Arg489Gln)" "r.(?)" "" "" "" "" "" "-" "0000018121" "00000388" "00" "1601" "1" "1601" "1" "c.1601+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018121" "00000389" "00" "1304" "1" "1304" "1" "c.1304+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018121" "00000390" "00" "1532" "1" "1532" "1" "c.1532+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018121" "00000391" "00" "1466" "1" "1466" "1" "c.1466+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018122" "00000388" "00" "1601" "2" "1601" "2" "c.1601+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018122" "00000389" "00" "1304" "2" "1304" "2" "c.1304+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018122" "00000390" "00" "1532" "2" "1532" "2" "c.1532+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018122" "00000391" "00" "1466" "2" "1466" "2" "c.1466+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018123" "00000388" "00" "1601" "7" "1601" "7" "c.1601+7T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018123" "00000389" "00" "1304" "7" "1304" "7" "c.1304+7T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018123" "00000390" "00" "1532" "7" "1532" "7" "c.1532+7T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018123" "00000391" "00" "1466" "7" "1466" "7" "c.1466+7T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018124" "00000388" "00" "1601" "10" "1601" "10" "c.1601+10G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018124" "00000389" "00" "1304" "10" "1304" "10" "c.1304+10G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018124" "00000390" "00" "1532" "10" "1532" "10" "c.1532+10G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018124" "00000391" "00" "1466" "10" "1466" "10" "c.1466+10G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018125" "00000388" "00" "1602" "-4" "1602" "-4" "c.1602-4T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018125" "00000389" "00" "1305" "-4" "1305" "-4" "c.1305-4T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018125" "00000390" "00" "1533" "-4" "1533" "-4" "c.1533-4T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018125" "00000391" "00" "1467" "-4" "1467" "-4" "c.1467-4T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018126" "00000388" "00" "1636" "0" "1636" "0" "c.1636G>A" "" "p.(Gly546Arg)" "r.(?)" "" "" "" "" "" "-" "0000018126" "00000389" "00" "1339" "0" "1339" "0" "c.1339G>A" "" "p.(Gly447Arg)" "r.(?)" "" "" "" "" "" "-" "0000018126" "00000390" "00" "1567" "0" "1567" "0" "c.1567G>A" "" "p.(Gly523Arg)" "r.(?)" "" "" "" "" "" "-" "0000018126" "00000391" "00" "1501" "0" "1501" "0" "c.1501G>A" "" "p.(Gly501Arg)" "r.(?)" "" "" "" "" "" "-" "0000018127" "00000388" "00" "1650" "0" "1650" "0" "c.1650G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018127" "00000389" "00" "1353" "0" "1353" "0" "c.1353G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018127" "00000390" "00" "1581" "0" "1581" "0" "c.1581G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018127" "00000391" "00" "1515" "0" "1515" "0" "c.1515G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018128" "00000388" "00" "1660" "0" "1660" "0" "c.1660C>T" "" "p.(Arg554Trp)" "r.(?)" "" "" "" "" "" "-" "0000018128" "00000389" "00" "1363" "0" "1363" "0" "c.1363C>T" "" "p.(Arg455Trp)" "r.(?)" "" "" "" "" "" "-" "0000018128" "00000390" "00" "1591" "0" "1591" "0" "c.1591C>T" "" "p.(Arg531Trp)" "r.(?)" "" "" "" "" "" "-" "0000018128" "00000391" "00" "1525" "0" "1525" "0" "c.1525C>T" "" "p.(Arg509Trp)" "r.(?)" "" "" "" "" "" "-" "0000018129" "00000388" "00" "1660" "0" "1661" "0" "c.1660_1661insG" "" "p.(Ser555Glufs*30)" "r.(?)" "" "" "" "" "" "-" "0000018129" "00000389" "00" "1363" "0" "1364" "0" "c.1363_1364insG" "" "p.(Ser456Glufs*30)" "r.(?)" "" "" "" "" "" "-" "0000018129" "00000390" "00" "1591" "0" "1592" "0" "c.1591_1592insG" "" "p.(Ser532Glufs*30)" "r.(?)" "" "" "" "" "" "-" "0000018129" "00000391" "00" "1525" "0" "1526" "0" "c.1525_1526insG" "" "p.(Ser510Glufs*30)" "r.(?)" "" "" "" "" "" "-" "0000018130" "00000388" "00" "1669" "0" "1669" "0" "c.1669G>A" "" "p.(Glu557Lys)" "r.(?)" "" "" "" "" "" "-" "0000018130" "00000389" "00" "1372" "0" "1372" "0" "c.1372G>A" "" "p.(Glu458Lys)" "r.(?)" "" "" "" "" "" "-" "0000018130" "00000390" "00" "1600" "0" "1600" "0" "c.1600G>A" "" "p.(Glu534Lys)" "r.(?)" "" "" "" "" "" "-" "0000018130" "00000391" "00" "1534" "0" "1534" "0" "c.1534G>A" "" "p.(Glu512Lys)" "r.(?)" "" "" "" "" "" "-" "0000018131" "00000388" "00" "1674" "6" "1674" "6" "c.1674+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018131" "00000389" "00" "1377" "6" "1377" "6" "c.1377+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018131" "00000390" "00" "1605" "6" "1605" "6" "c.1605+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018131" "00000391" "00" "1539" "6" "1539" "6" "c.1539+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018132" "00000388" "00" "1675" "-1" "1675" "-1" "c.1675-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018132" "00000389" "00" "1378" "-1" "1378" "-1" "c.1378-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018132" "00000390" "00" "1606" "-1" "1606" "-1" "c.1606-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018132" "00000391" "00" "1540" "-1" "1540" "-1" "c.1540-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018133" "00000388" "00" "1682" "0" "1682" "0" "c.1682G>A" "" "p.(Arg561Gln)" "r.(?)" "" "" "" "" "" "-" "0000018133" "00000389" "00" "1385" "0" "1385" "0" "c.1385G>A" "" "p.(Arg462Gln)" "r.(?)" "" "" "" "" "" "-" "0000018133" "00000390" "00" "1613" "0" "1613" "0" "c.1613G>A" "" "p.(Arg538Gln)" "r.(?)" "" "" "" "" "" "-" "0000018133" "00000391" "00" "1547" "0" "1547" "0" "c.1547G>A" "" "p.(Arg516Gln)" "r.(?)" "" "" "" "" "" "-" "0000018134" "00000388" "00" "1726" "0" "1726" "0" "c.1726A>C" "" "p.(Lys576Gln)" "r.(?)" "" "" "" "" "" "-" "0000018134" "00000389" "00" "1429" "0" "1429" "0" "c.1429A>C" "" "p.(Lys477Gln)" "r.(?)" "" "" "" "" "" "-" "0000018134" "00000390" "00" "1657" "0" "1657" "0" "c.1657A>C" "" "p.(Lys553Gln)" "r.(?)" "" "" "" "" "" "-" "0000018134" "00000391" "00" "1591" "0" "1591" "0" "c.1591A>C" "" "p.(Lys531Gln)" "r.(?)" "" "" "" "" "" "-" "0000018135" "00000388" "00" "1747" "23" "1747" "23" "c.1747+23C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018135" "00000389" "00" "1450" "23" "1450" "23" "c.1450+23C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018135" "00000390" "00" "1678" "23" "1678" "23" "c.1678+23C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018135" "00000391" "00" "1612" "23" "1612" "23" "c.1612+23C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018136" "00000388" "00" "1748" "-6" "1748" "-6" "c.1748-6G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018136" "00000389" "00" "1451" "-6" "1451" "-6" "c.1451-6G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018136" "00000390" "00" "1679" "-6" "1679" "-6" "c.1679-6G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018136" "00000391" "00" "1613" "-6" "1613" "-6" "c.1613-6G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018137" "00000388" "00" "1768" "0" "1768" "0" "c.1768C>T" "" "p.(Arg590Trp)" "r.(?)" "" "" "" "" "" "-" "0000018137" "00000389" "00" "1471" "0" "1471" "0" "c.1471C>T" "" "p.(Arg491Trp)" "r.(?)" "" "" "" "" "" "-" "0000018137" "00000390" "00" "1699" "0" "1699" "0" "c.1699C>T" "" "p.(Arg567Trp)" "r.(?)" "" "" "" "" "" "-" "0000018137" "00000391" "00" "1633" "0" "1633" "0" "c.1633C>T" "" "p.(Arg545Trp)" "r.(?)" "" "" "" "" "" "-" "0000018138" "00000388" "00" "1821" "-2" "1821" "-2" "c.1821-2del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018138" "00000389" "00" "1524" "-2" "1524" "-2" "c.1524-2del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018138" "00000390" "00" "1752" "-2" "1752" "-2" "c.1752-2del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018138" "00000391" "00" "1686" "-2" "1686" "-2" "c.1686-2del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018139" "00000388" "00" "1823" "0" "1823" "0" "c.1823C>T" "" "p.(Ala608Val)" "r.(?)" "" "" "" "" "" "-" "0000018139" "00000389" "00" "1526" "0" "1526" "0" "c.1526C>T" "" "p.(Ala509Val)" "r.(?)" "" "" "" "" "" "-" "0000018139" "00000390" "00" "1754" "0" "1754" "0" "c.1754C>T" "" "p.(Ala585Val)" "r.(?)" "" "" "" "" "" "-" "0000018139" "00000391" "00" "1688" "0" "1688" "0" "c.1688C>T" "" "p.(Ala563Val)" "r.(?)" "" "" "" "" "" "-" "0000018140" "00000388" "00" "1832" "0" "1832" "0" "c.1832del" "" "p.(Leu612*)" "r.(?)" "" "" "" "" "" "-" "0000018140" "00000389" "00" "1535" "0" "1535" "0" "c.1535del" "" "p.(Leu513*)" "r.(?)" "" "" "" "" "" "-" "0000018140" "00000390" "00" "1763" "0" "1763" "0" "c.1763del" "" "p.(Leu589*)" "r.(?)" "" "" "" "" "" "-" "0000018140" "00000391" "00" "1697" "0" "1697" "0" "c.1697del" "" "p.(Leu567*)" "r.(?)" "" "" "" "" "" "-" "0000018141" "00000388" "00" "1889" "0" "1889" "0" "c.1889G>C" "" "p.(Cys630Ser)" "r.(?)" "" "" "" "" "" "-" "0000018141" "00000389" "00" "1592" "0" "1592" "0" "c.1592G>C" "" "p.(Cys531Ser)" "r.(?)" "" "" "" "" "" "-" "0000018141" "00000390" "00" "1820" "0" "1820" "0" "c.1820G>C" "" "p.(Cys607Ser)" "r.(?)" "" "" "" "" "" "-" "0000018141" "00000391" "00" "1754" "0" "1754" "0" "c.1754G>C" "" "p.(Cys585Ser)" "r.(?)" "" "" "" "" "" "-" "0000018142" "00000388" "00" "1893" "0" "1893" "0" "c.1893C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018142" "00000389" "00" "1596" "0" "1596" "0" "c.1596C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018142" "00000390" "00" "1824" "0" "1824" "0" "c.1824C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018142" "00000391" "00" "1758" "0" "1758" "0" "c.1758C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018143" "00000388" "00" "1897" "-4" "1897" "-4" "c.1897-4C>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018143" "00000389" "00" "1600" "-4" "1600" "-4" "c.1600-4C>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018143" "00000390" "00" "1828" "-4" "1828" "-4" "c.1828-4C>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018143" "00000391" "00" "1762" "-4" "1762" "-4" "c.1762-4C>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018144" "00000388" "00" "1904" "0" "1904" "0" "c.1904C>G" "" "p.(Ala635Gly)" "r.(?)" "" "" "" "" "" "-" "0000018144" "00000389" "00" "1607" "0" "1607" "0" "c.1607C>G" "" "p.(Ala536Gly)" "r.(?)" "" "" "" "" "" "-" "0000018144" "00000390" "00" "1835" "0" "1835" "0" "c.1835C>G" "" "p.(Ala612Gly)" "r.(?)" "" "" "" "" "" "-" "0000018144" "00000391" "00" "1769" "0" "1769" "0" "c.1769C>G" "" "p.(Ala590Gly)" "r.(?)" "" "" "" "" "" "-" "0000018145" "00000388" "00" "1906" "0" "1906" "0" "c.1906C>T" "" "p.(Arg636Trp)" "r.(?)" "" "" "" "" "" "-" "0000018145" "00000389" "00" "1609" "0" "1609" "0" "c.1609C>T" "" "p.(Arg537Trp)" "r.(?)" "" "" "" "" "" "-" "0000018145" "00000390" "00" "1837" "0" "1837" "0" "c.1837C>T" "" "p.(Arg613Trp)" "r.(?)" "" "" "" "" "" "-" "0000018145" "00000391" "00" "1771" "0" "1771" "0" "c.1771C>T" "" "p.(Arg591Trp)" "r.(?)" "" "" "" "" "" "-" "0000018146" "00000388" "00" "1908" "0" "1908" "0" "c.1908G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018146" "00000389" "00" "1611" "0" "1611" "0" "c.1611G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018146" "00000390" "00" "1839" "0" "1839" "0" "c.1839G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018146" "00000391" "00" "1773" "0" "1773" "0" "c.1773G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018147" "00000388" "00" "1912" "0" "1912" "0" "c.1912C>T" "" "p.(Arg638*)" "r.(?)" "" "" "" "" "" "-" "0000018147" "00000389" "00" "1615" "0" "1615" "0" "c.1615C>T" "" "p.(Arg539*)" "r.(?)" "" "" "" "" "" "-" "0000018147" "00000390" "00" "1843" "0" "1843" "0" "c.1843C>T" "" "p.(Arg615*)" "r.(?)" "" "" "" "" "" "-" "0000018147" "00000391" "00" "1777" "0" "1777" "0" "c.1777C>T" "" "p.(Arg593*)" "r.(?)" "" "" "" "" "" "-" "0000018148" "00000388" "00" "1913" "0" "1913" "0" "c.1913G>A" "" "p.(Arg638Gln)" "r.(?)" "" "" "" "" "" "-" "0000018148" "00000389" "00" "1616" "0" "1616" "0" "c.1616G>A" "" "p.(Arg539Gln)" "r.(?)" "" "" "" "" "" "-" "0000018148" "00000390" "00" "1844" "0" "1844" "0" "c.1844G>A" "" "p.(Arg615Gln)" "r.(?)" "" "" "" "" "" "-" "0000018148" "00000391" "00" "1778" "0" "1778" "0" "c.1778G>A" "" "p.(Arg593Gln)" "r.(?)" "" "" "" "" "" "-" "0000018149" "00000388" "00" "1947" "0" "1947" "0" "c.1947G>A" "" "p.(Trp649*)" "r.(?)" "" "" "" "" "" "-" "0000018149" "00000389" "00" "1650" "0" "1650" "0" "c.1650G>A" "" "p.(Trp550*)" "r.(?)" "" "" "" "" "" "-" "0000018149" "00000390" "00" "1878" "0" "1878" "0" "c.1878G>A" "" "p.(Trp626*)" "r.(?)" "" "" "" "" "" "-" "0000018149" "00000391" "00" "1812" "0" "1812" "0" "c.1812G>A" "" "p.(Trp604*)" "r.(?)" "" "" "" "" "" "-" "0000018150" "00000388" "00" "1963" "0" "1963" "0" "c.1963C>T" "" "p.(Arg655Cys)" "r.(?)" "" "" "" "" "" "-" "0000018150" "00000389" "00" "1666" "0" "1666" "0" "c.1666C>T" "" "p.(Arg556Cys)" "r.(?)" "" "" "" "" "" "-" "0000018150" "00000390" "00" "1894" "0" "1894" "0" "c.1894C>T" "" "p.(Arg632Cys)" "r.(?)" "" "" "" "" "" "-" "0000018150" "00000391" "00" "1828" "0" "1828" "0" "c.1828C>T" "" "p.(Arg610Cys)" "r.(?)" "" "" "" "" "" "-" "0000018151" "00000388" "00" "1998" "0" "1998" "0" "c.1998G>C" "" "p.(Glu666Asp)" "r.(?)" "" "" "" "" "" "-" "0000018151" "00000389" "00" "1701" "0" "1701" "0" "c.1701G>C" "" "p.(Glu567Asp)" "r.(?)" "" "" "" "" "" "-" "0000018151" "00000390" "00" "1929" "0" "1929" "0" "c.1929G>C" "" "p.(Glu643Asp)" "r.(?)" "" "" "" "" "" "-" "0000018151" "00000391" "00" "1863" "0" "1863" "0" "c.1863G>C" "" "p.(Glu621Asp)" "r.(?)" "" "" "" "" "" "-" "0000018152" "00000388" "00" "2001" "0" "2001" "0" "c.2001G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018152" "00000389" "00" "1704" "0" "1704" "0" "c.1704G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018152" "00000390" "00" "1932" "0" "1932" "0" "c.1932G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018152" "00000391" "00" "1866" "0" "1866" "0" "c.1866G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018153" "00000388" "00" "2034" "0" "2034" "0" "c.2034C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018153" "00000389" "00" "1737" "0" "1737" "0" "c.1737C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018153" "00000390" "00" "1965" "0" "1965" "0" "c.1965C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018153" "00000391" "00" "1899" "0" "1899" "0" "c.1899C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018154" "00000388" "00" "2043" "0" "2043" "0" "c.*6del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018154" "00000389" "00" "1746" "0" "1746" "0" "c.*6del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018154" "00000390" "00" "1974" "0" "1974" "0" "c.*6del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018154" "00000391" "00" "1908" "0" "1908" "0" "c.*6del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018155" "00000388" "00" "2069" "0" "2069" "0" "c.*32T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018155" "00000389" "00" "1772" "0" "1772" "0" "c.*32T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018155" "00000390" "00" "2000" "0" "2000" "0" "c.*32T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018155" "00000391" "00" "1934" "0" "1934" "0" "c.*32T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018156" "00000388" "00" "2090" "0" "2090" "0" "c.*53C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018156" "00000389" "00" "1793" "0" "1793" "0" "c.*53C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018156" "00000390" "00" "2021" "0" "2021" "0" "c.*53C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018156" "00000391" "00" "1955" "0" "1955" "0" "c.*53C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025344" "00000388" "00" "28" "1" "28" "1" "c.28+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025344" "00000389" "00" "-457" "-2657" "-457" "-2657" "c.-3114G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025344" "00000390" "00" "-154" "-2657" "-154" "-2657" "c.-2811G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025344" "00000391" "00" "-154" "-2657" "-154" "-2657" "c.-2811G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025345" "00000388" "00" "52" "0" "52" "0" "c.52A>G" "" "p.(Ile18Val)" "r.(?)" "" "" "" "" "" "-" "0000025345" "00000389" "00" "-457" "-2092" "-457" "-2092" "c.-2549A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025345" "00000390" "00" "-154" "-2092" "-154" "-2092" "c.-2246A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025345" "00000391" "00" "-154" "-2092" "-154" "-2092" "c.-2246A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025346" "00000388" "00" "53" "0" "54" "0" "c.53_54insAGAAGC" "" "p.(Glu21_Ala22dup)" "r.(?)" "" "" "" "" "" "-" "0000025346" "00000389" "00" "-457" "-2091" "-457" "-2090" "c.-2548_-2547insAGAAGC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025346" "00000390" "00" "-154" "-2091" "-154" "-2090" "c.-2245_-2244insAGAAGC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025346" "00000391" "00" "-154" "-2091" "-154" "-2090" "c.-2245_-2244insAGAAGC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025347" "00000388" "00" "67" "0" "67" "0" "c.67C>T" "" "p.(Gln23*)" "r.(?)" "" "" "" "" "" "-" "0000025347" "00000389" "00" "-457" "-2077" "-457" "-2077" "c.-2534C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025347" "00000390" "00" "-154" "-2077" "-154" "-2077" "c.-2231C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025347" "00000391" "00" "-154" "-2077" "-154" "-2077" "c.-2231C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025348" "00000388" "00" "82" "0" "82" "0" "c.82C>T" "" "p.(Gln28*)" "r.(?)" "" "" "" "" "" "-" "0000025348" "00000389" "00" "-457" "-2062" "-457" "-2062" "c.-2519C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025348" "00000390" "00" "-154" "-2062" "-154" "-2062" "c.-2216C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025348" "00000391" "00" "-154" "-2062" "-154" "-2062" "c.-2216C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025349" "00000388" "00" "89" "0" "89" "0" "c.89G>A" "" "p.(Trp30*)" "r.(?)" "" "" "" "" "" "-" "0000025349" "00000389" "00" "-457" "-2055" "-457" "-2055" "c.-2512G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025349" "00000390" "00" "-154" "-2055" "-154" "-2055" "c.-2209G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025349" "00000391" "00" "-154" "-2055" "-154" "-2055" "c.-2209G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025350" "00000388" "00" "109" "0" "110" "0" "c.109_110insCGATGA" "" "p.(Met38_Thr39dup)" "r.(?)" "" "" "" "" "" "-" "0000025350" "00000389" "00" "-457" "-2035" "-457" "-2034" "c.-2492_-2491insCGATGA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025350" "00000390" "00" "-154" "-2035" "-154" "-2034" "c.-2189_-2188insCGATGA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025350" "00000391" "00" "-154" "-2035" "-154" "-2034" "c.-2189_-2188insCGATGA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025351" "00000388" "00" "115" "0" "119" "0" "c.115_119del" "" "p.(Thr39Lysfs*41)" "r.(?)" "" "" "" "" "" "-" "0000025351" "00000389" "00" "-457" "-2029" "-457" "-2025" "c.-2486_-2482del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025351" "00000390" "00" "-154" "-2029" "-154" "-2025" "c.-2183_-2179del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025351" "00000391" "00" "-154" "-2029" "-154" "-2025" "c.-2183_-2179del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025352" "00000388" "00" "132" "-135" "132" "-135" "c.132-135G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025352" "00000389" "00" "-301" "0" "-301" "0" "c.-301G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025352" "00000390" "00" "3" "0" "3" "0" "c.3G>A" "" "p.?" "r.?" "" "" "" "" "" "-" "0000025352" "00000391" "00" "3" "0" "3" "0" "c.3G>A" "" "p.?" "r.?" "" "" "" "" "" "-" "0000025353" "00000388" "00" "132" "-124" "132" "-108" "c.132-124_132-108del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025353" "00000389" "00" "-290" "0" "-274" "0" "c.-290_-274del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025353" "00000390" "00" "14" "0" "30" "0" "c.14_30del" "" "p.(Met6Alafs*47)" "r.(?)" "" "" "" "" "" "-" "0000025353" "00000391" "00" "14" "0" "30" "0" "c.14_30del" "" "p.(Met6Alafs*38)" "r.(?)" "" "" "" "" "" "-" "0000025354" "00000388" "00" "132" "-108" "132" "-108" "c.132-108del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025354" "00000389" "00" "-274" "0" "-274" "0" "c.-274del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025354" "00000390" "00" "30" "0" "30" "0" "c.30del" "" "p.(Arg12Glyfs*4)" "r.(?)" "" "" "" "" "" "-" "0000025354" "00000391" "00" "30" "0" "30" "0" "c.30del" "" "p.(Arg12Glyfs*4)" "r.(?)" "" "" "" "" "" "-" "0000025355" "00000388" "00" "132" "-70" "132" "-70" "c.132-70T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025355" "00000389" "00" "-236" "0" "-236" "0" "c.-236T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025355" "00000390" "00" "62" "6" "62" "6" "c.62+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025355" "00000391" "00" "62" "6" "62" "6" "c.62+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025356" "00000388" "00" "132" "-66" "132" "-66" "c.132-66del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025356" "00000389" "00" "-232" "0" "-232" "0" "c.-232del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025356" "00000390" "00" "62" "10" "62" "10" "c.62+10del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025356" "00000391" "00" "62" "10" "62" "10" "c.62+10del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025357" "00000388" "00" "132" "-67" "132" "-67" "c.132-67G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025357" "00000389" "00" "-233" "0" "-233" "0" "c.-233G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025357" "00000390" "00" "62" "9" "62" "9" "c.62+9G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025357" "00000391" "00" "62" "9" "62" "9" "c.62+9G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025358" "00000388" "00" "132" "-58" "132" "-58" "c.132-58G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025358" "00000389" "00" "-224" "0" "-224" "0" "c.-224G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025358" "00000390" "00" "62" "18" "62" "18" "c.62+18G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025358" "00000391" "00" "62" "18" "62" "18" "c.62+18G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025359" "00000388" "00" "132" "-31" "132" "-31" "c.132-31C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025359" "00000389" "00" "-197" "0" "-197" "0" "c.-197C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025359" "00000390" "00" "63" "-31" "63" "-31" "c.63-31C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025359" "00000391" "00" "63" "-31" "63" "-31" "c.63-31C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025360" "00000388" "00" "132" "-18" "132" "-18" "c.132-18A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025360" "00000389" "00" "-184" "0" "-184" "0" "c.-184A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025360" "00000390" "00" "63" "-18" "63" "-18" "c.63-18A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025360" "00000391" "00" "63" "-18" "63" "-18" "c.63-18A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025361" "00000388" "00" "164" "0" "164" "0" "c.164G>A" "" "p.(Arg55Gln)" "r.(?)" "" "" "" "" "" "-" "0000025361" "00000389" "00" "-134" "0" "-134" "0" "c.-134G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025361" "00000390" "00" "95" "0" "95" "0" "c.95G>A" "" "p.(Arg32Gln)" "r.(?)" "" "" "" "" "" "-" "0000025361" "00000391" "00" "95" "0" "95" "0" "c.95G>A" "" "p.(Arg32Gln)" "r.(?)" "" "" "" "" "" "-" "0000025362" "00000388" "00" "169" "0" "170" "0" "c.169_170insGCCCT" "" "p.(Arg60Leufs*26)" "r.(?)" "" "" "" "" "" "-" "0000025362" "00000389" "00" "-129" "0" "-128" "0" "c.-129_-128insGCCCT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025362" "00000390" "00" "100" "0" "101" "0" "c.100_101insGCCCT" "" "p.(Arg37Leufs*26)" "r.(?)" "" "" "" "" "" "-" "0000025362" "00000391" "00" "100" "0" "101" "0" "c.100_101insGCCCT" "" "p.(Arg37Leufs*60)" "r.(?)" "" "" "" "" "" "-" "0000025363" "00000388" "00" "190" "0" "190" "0" "c.190G>A" "" "p.(Ala64Thr)" "r.(?)" "" "" "" "" "" "-" "0000025363" "00000389" "00" "-108" "0" "-108" "0" "c.-108G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025363" "00000390" "00" "121" "0" "121" "0" "c.121G>A" "" "p.(Ala41Thr)" "r.(?)" "" "" "" "" "" "-" "0000025363" "00000391" "00" "121" "0" "121" "0" "c.121G>A" "" "p.(Ala41Thr)" "r.(?)" "" "" "" "" "" "-" "0000025364" "00000388" "00" "207" "1" "207" "2" "c.207+1_207+2insT" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025364" "00000389" "00" "-91" "1" "-91" "2" "c.-91+1_-91+2insT" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025364" "00000390" "00" "138" "1" "138" "2" "c.138+1_138+2insT" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025364" "00000391" "00" "138" "1" "138" "2" "c.138+1_138+2insT" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025365" "00000388" "00" "207" "1" "207" "1" "c.207+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025365" "00000389" "00" "-91" "1" "-91" "1" "c.-91+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025365" "00000390" "00" "138" "1" "138" "1" "c.138+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025365" "00000391" "00" "138" "1" "138" "1" "c.138+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025366" "00000388" "00" "208" "-3" "208" "-3" "c.208-3C>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025366" "00000389" "00" "-90" "-3" "-90" "-3" "c.-90-3C>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025366" "00000390" "00" "139" "-3" "139" "-3" "c.139-3C>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025366" "00000391" "00" "139" "-143" "139" "-143" "c.139-143C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025367" "00000388" "00" "256" "0" "256" "0" "c.256del" "" "p.(Lys87Asnfs*53)" "r.(?)" "" "" "" "" "" "-" "0000025367" "00000389" "00" "-42" "0" "-42" "0" "c.-42del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025367" "00000390" "00" "187" "0" "187" "0" "c.187del" "" "p.(Lys64Asnfs*53)" "r.(?)" "" "" "" "" "" "-" "0000025367" "00000391" "00" "139" "-92" "139" "-92" "c.139-92del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025368" "00000388" "00" "255" "0" "256" "0" "c.255_256insA" "" "p.(Pro88Thrfs*7)" "r.(?)" "" "" "" "" "" "-" "0000025368" "00000389" "00" "-43" "0" "-42" "0" "c.-43_-42insA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025368" "00000390" "00" "186" "0" "187" "0" "c.186_187insA" "" "p.(Pro65Thrfs*7)" "r.(?)" "" "" "" "" "" "-" "0000025368" "00000391" "00" "139" "-93" "139" "-92" "c.139-93_139-92insA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025369" "00000388" "00" "273" "5" "273" "5" "c.273+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025369" "00000389" "00" "-25" "5" "-25" "5" "c.-25+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025369" "00000390" "00" "204" "5" "204" "5" "c.204+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025369" "00000391" "00" "139" "-70" "139" "-70" "c.139-70G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025370" "00000388" "00" "273" "15" "273" "15" "c.273+15G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025370" "00000389" "00" "-25" "15" "-25" "15" "c.-25+15G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025370" "00000390" "00" "204" "15" "204" "15" "c.204+15G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025370" "00000391" "00" "139" "-60" "139" "-60" "c.139-60G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025371" "00000388" "00" "273" "30" "273" "31" "c.273+30_273+31insG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025371" "00000389" "00" "-25" "30" "-25" "31" "c.-25+30_-25+31insG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025371" "00000390" "00" "204" "30" "204" "31" "c.204+30_204+31insG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025371" "00000391" "00" "139" "-45" "139" "-44" "c.139-45_139-44insG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025372" "00000388" "00" "274" "-5" "274" "-5" "c.274-5C>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025372" "00000389" "00" "-24" "-5" "-24" "-5" "c.-24-5C>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025372" "00000390" "00" "205" "-5" "205" "-5" "c.205-5C>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025372" "00000391" "00" "139" "-5" "139" "-5" "c.139-5C>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025373" "00000388" "00" "296" "0" "296" "0" "c.296G>A" "" "p.(Gly99Glu)" "r.(?)" "" "" "" "" "" "-" "0000025373" "00000389" "00" "-2" "0" "-2" "0" "c.-2G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025373" "00000390" "00" "227" "0" "227" "0" "c.227G>A" "" "p.(Gly76Glu)" "r.(?)" "" "" "" "" "" "-" "0000025373" "00000391" "00" "161" "0" "161" "0" "c.161G>A" "" "p.(Gly54Glu)" "r.(?)" "" "" "" "" "" "-" "0000025374" "00000388" "00" "299" "0" "299" "0" "c.299T>C" "" "p.(Met100Thr)" "r.(?)" "" "" "" "" "" "-" "0000025374" "00000389" "00" "2" "0" "2" "0" "c.2T>C" "" "p.?" "r.?" "" "" "" "" "" "-" "0000025374" "00000390" "00" "230" "0" "230" "0" "c.230T>C" "" "p.(Met77Thr)" "r.(?)" "" "" "" "" "" "-" "0000025374" "00000391" "00" "164" "0" "164" "0" "c.164T>C" "" "p.(Met55Thr)" "r.(?)" "" "" "" "" "" "-" "0000025375" "00000388" "00" "318" "0" "319" "0" "c.318_319del" "" "p.(Thr107Argfs*19)" "r.(?)" "" "" "" "" "" "-" "0000025375" "00000389" "00" "21" "0" "22" "0" "c.21_22del" "" "p.(Thr8Argfs*19)" "r.(?)" "" "" "" "" "" "-" "0000025375" "00000390" "00" "249" "0" "250" "0" "c.249_250del" "" "p.(Thr84Argfs*19)" "r.(?)" "" "" "" "" "" "-" "0000025375" "00000391" "00" "183" "0" "184" "0" "c.183_184del" "" "p.(Thr62Argfs*19)" "r.(?)" "" "" "" "" "" "-" "0000025376" "00000388" "00" "325" "0" "325" "0" "c.325C>T" "" "p.(Gln109*)" "r.(?)" "" "" "" "" "" "-" "0000025376" "00000389" "00" "28" "0" "28" "0" "c.28C>T" "" "p.(Gln10*)" "r.(?)" "" "" "" "" "" "-" "0000025376" "00000390" "00" "256" "0" "256" "0" "c.256C>T" "" "p.(Gln86*)" "r.(?)" "" "" "" "" "" "-" "0000025376" "00000391" "00" "190" "0" "190" "0" "c.190C>T" "" "p.(Gln64*)" "r.(?)" "" "" "" "" "" "-" "0000025377" "00000388" "00" "333" "0" "333" "0" "c.333del" "" "p.(Pro112Hisfs*28)" "r.(?)" "" "" "" "" "" "-" "0000025377" "00000389" "00" "36" "0" "36" "0" "c.36del" "" "p.(Pro13Hisfs*28)" "r.(?)" "" "" "" "" "" "-" "0000025377" "00000390" "00" "264" "0" "264" "0" "c.264del" "" "p.(Pro89Hisfs*28)" "r.(?)" "" "" "" "" "" "-" "0000025377" "00000391" "00" "198" "0" "198" "0" "c.198del" "" "p.(Pro67Hisfs*28)" "r.(?)" "" "" "" "" "" "-" "0000025378" "00000388" "00" "346" "0" "346" "0" "c.346del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025378" "00000389" "00" "49" "0" "49" "0" "c.49del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025378" "00000390" "00" "277" "0" "277" "0" "c.277del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025378" "00000391" "00" "211" "0" "211" "0" "c.211del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025379" "00000388" "00" "346" "2" "346" "2" "c.346+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025379" "00000389" "00" "49" "2" "49" "2" "c.49+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025379" "00000390" "00" "277" "2" "277" "2" "c.277+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025379" "00000391" "00" "211" "2" "211" "2" "c.211+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025380" "00000388" "00" "346" "25" "346" "25" "c.346+25del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025380" "00000389" "00" "49" "25" "49" "25" "c.49+25del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025380" "00000390" "00" "277" "25" "277" "25" "c.277+25del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025380" "00000391" "00" "211" "25" "211" "25" "c.211+25del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025381" "00000388" "00" "346" "24" "346" "24" "c.346+24T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025381" "00000389" "00" "49" "24" "49" "24" "c.49+24T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025381" "00000390" "00" "277" "24" "277" "24" "c.277+24T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025381" "00000391" "00" "211" "24" "211" "24" "c.211+24T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025382" "00000388" "00" "347" "-39" "347" "-39" "c.347-39C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025382" "00000389" "00" "50" "-39" "50" "-39" "c.50-39C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025382" "00000390" "00" "278" "-39" "278" "-39" "c.278-39C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025382" "00000391" "00" "212" "-39" "212" "-39" "c.212-39C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025383" "00000388" "00" "347" "-8" "347" "-8" "c.347-8C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025383" "00000389" "00" "50" "-8" "50" "-8" "c.50-8C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025383" "00000390" "00" "278" "-8" "278" "-8" "c.278-8C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025383" "00000391" "00" "212" "-8" "212" "-8" "c.212-8C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025384" "00000388" "00" "355" "0" "355" "0" "c.355G>A" "" "p.(Glu119Lys)" "r.(?)" "" "" "" "" "" "-" "0000025384" "00000389" "00" "58" "0" "58" "0" "c.58G>A" "" "p.(Glu20Lys)" "r.(?)" "" "" "" "" "" "-" "0000025384" "00000390" "00" "286" "0" "286" "0" "c.286G>A" "" "p.(Glu96Lys)" "r.(?)" "" "" "" "" "" "-" "0000025384" "00000391" "00" "220" "0" "220" "0" "c.220G>A" "" "p.(Glu74Lys)" "r.(?)" "" "" "" "" "" "-" "0000025385" "00000388" "00" "368" "0" "374" "0" "c.368_374del" "" "p.(Gln123Leufs*15)" "r.(?)" "" "" "" "" "" "-" "0000025385" "00000389" "00" "71" "0" "77" "0" "c.71_77del" "" "p.(Gln24Leufs*15)" "r.(?)" "" "" "" "" "" "-" "0000025385" "00000390" "00" "299" "0" "305" "0" "c.299_305del" "" "p.(Gln100Leufs*15)" "r.(?)" "" "" "" "" "" "-" "0000025385" "00000391" "00" "233" "0" "239" "0" "c.233_239del" "" "p.(Gln78Leufs*15)" "r.(?)" "" "" "" "" "" "-" "0000025386" "00000388" "00" "399" "0" "407" "0" "c.399_407del" "" "p.(Arg134_Phe136del)" "r.(?)" "" "" "" "" "" "-" "0000025386" "00000389" "00" "102" "0" "110" "0" "c.102_110del" "" "p.(Arg35_Phe37del)" "r.(?)" "" "" "" "" "" "-" "0000025386" "00000390" "00" "330" "0" "338" "0" "c.330_338del" "" "p.(Arg111_Phe113del)" "r.(?)" "" "" "" "" "" "-" "0000025386" "00000391" "00" "264" "0" "272" "0" "c.264_272del" "" "p.(Arg89_Phe91del)" "r.(?)" "" "" "" "" "" "-" "0000025387" "00000388" "00" "411" "14" "411" "14" "c.411+14C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025387" "00000389" "00" "114" "14" "114" "14" "c.114+14C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025387" "00000390" "00" "342" "14" "342" "14" "c.342+14C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025387" "00000391" "00" "276" "14" "276" "14" "c.276+14C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025388" "00000388" "00" "411" "15" "411" "15" "c.411+15G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025388" "00000389" "00" "114" "15" "114" "15" "c.114+15G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025388" "00000390" "00" "342" "15" "342" "15" "c.342+15G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025388" "00000391" "00" "276" "15" "276" "15" "c.276+15G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025389" "00000388" "00" "411" "16" "411" "16" "c.411+16G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025389" "00000389" "00" "114" "16" "114" "16" "c.114+16G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025389" "00000390" "00" "342" "16" "342" "16" "c.342+16G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025389" "00000391" "00" "276" "16" "276" "16" "c.276+16G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025390" "00000388" "00" "411" "25" "411" "25" "c.411+25C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025390" "00000389" "00" "114" "25" "114" "25" "c.114+25C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025390" "00000390" "00" "342" "25" "342" "25" "c.342+25C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025390" "00000391" "00" "276" "25" "276" "25" "c.276+25C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025391" "00000388" "00" "412" "-41" "412" "-41" "c.412-41C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025391" "00000389" "00" "115" "-41" "115" "-41" "c.115-41C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025391" "00000390" "00" "343" "-41" "343" "-41" "c.343-41C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025391" "00000391" "00" "277" "-41" "277" "-41" "c.277-41C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025392" "00000388" "00" "412" "-23" "412" "-23" "c.412-23G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025392" "00000389" "00" "115" "-23" "115" "-23" "c.115-23G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025392" "00000390" "00" "343" "-23" "343" "-23" "c.343-23G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025392" "00000391" "00" "277" "-23" "277" "-23" "c.277-23G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025393" "00000388" "00" "433" "0" "433" "0" "c.433A>G" "" "p.(Asn145Asp)" "r.(?)" "" "" "" "" "" "-" "0000025393" "00000389" "00" "136" "0" "136" "0" "c.136A>G" "" "p.(Asn46Asp)" "r.(?)" "" "" "" "" "" "-" "0000025393" "00000390" "00" "364" "0" "364" "0" "c.364A>G" "" "p.(Asn122Asp)" "r.(?)" "" "" "" "" "" "-" "0000025393" "00000391" "00" "298" "0" "298" "0" "c.298A>G" "" "p.(Asn100Asp)" "r.(?)" "" "" "" "" "" "-" "0000025394" "00000388" "00" "443" "0" "443" "0" "c.443T>C" "" "p.(Leu148Pro)" "r.(?)" "" "" "" "" "" "-" "0000025394" "00000389" "00" "146" "0" "146" "0" "c.146T>C" "" "p.(Leu49Pro)" "r.(?)" "" "" "" "" "" "-" "0000025394" "00000390" "00" "374" "0" "374" "0" "c.374T>C" "" "p.(Leu125Pro)" "r.(?)" "" "" "" "" "" "-" "0000025394" "00000391" "00" "308" "0" "308" "0" "c.308T>C" "" "p.(Leu103Pro)" "r.(?)" "" "" "" "" "" "-" "0000025395" "00000388" "00" "467" "0" "467" "0" "c.467G>A" "" "p.(Trp156*)" "r.(?)" "" "" "" "" "" "-" "0000025395" "00000389" "00" "170" "0" "170" "0" "c.170G>A" "" "p.(Trp57*)" "r.(?)" "" "" "" "" "" "-" "0000025395" "00000390" "00" "398" "0" "398" "0" "c.398G>A" "" "p.(Trp133*)" "r.(?)" "" "" "" "" "" "-" "0000025395" "00000391" "00" "332" "0" "332" "0" "c.332G>A" "" "p.(Trp111*)" "r.(?)" "" "" "" "" "" "-" "0000025396" "00000388" "00" "488" "0" "527" "0" "c.488_527del" "" "p.(Gly166Alafs*61)" "r.(?)" "" "" "" "" "" "-" "0000025396" "00000389" "00" "191" "0" "230" "0" "c.191_230del" "" "p.(Gly67Alafs*61)" "r.(?)" "" "" "" "" "" "-" "0000025396" "00000390" "00" "419" "0" "458" "0" "c.419_458del" "" "p.(Gly143Alafs*61)" "r.(?)" "" "" "" "" "" "-" "0000025396" "00000391" "00" "353" "0" "392" "0" "c.353_392del" "" "p.(Gly121Alafs*61)" "r.(?)" "" "" "" "" "" "-" "0000025397" "00000388" "00" "508" "0" "508" "0" "c.508C>T" "" "p.(Pro170Ser)" "r.(?)" "" "" "" "" "" "-" "0000025397" "00000389" "00" "211" "0" "211" "0" "c.211C>T" "" "p.(Pro71Ser)" "r.(?)" "" "" "" "" "" "-" "0000025397" "00000390" "00" "439" "0" "439" "0" "c.439C>T" "" "p.(Pro147Ser)" "r.(?)" "" "" "" "" "" "-" "0000025397" "00000391" "00" "373" "0" "373" "0" "c.373C>T" "" "p.(Pro125Ser)" "r.(?)" "" "" "" "" "" "-" "0000025398" "00000388" "00" "551" "0" "551" "0" "c.551C>T" "" "p.(Ala184Val)" "r.(?)" "" "" "" "" "" "-" "0000025398" "00000389" "00" "254" "0" "254" "0" "c.254C>T" "" "p.(Ala85Val)" "r.(?)" "" "" "" "" "" "-" "0000025398" "00000390" "00" "482" "0" "482" "0" "c.482C>T" "" "p.(Ala161Val)" "r.(?)" "" "" "" "" "" "-" "0000025398" "00000391" "00" "416" "0" "416" "0" "c.416C>T" "" "p.(Ala139Val)" "r.(?)" "" "" "" "" "" "-" "0000025399" "00000388" "00" "604" "0" "604" "0" "c.604G>T" "" "p.(Gly202Trp)" "r.(?)" "" "" "" "" "" "-" "0000025399" "00000389" "00" "307" "0" "307" "0" "c.307G>T" "" "p.(Gly103Trp)" "r.(?)" "" "" "" "" "" "-" "0000025399" "00000390" "00" "535" "0" "535" "0" "c.535G>T" "" "p.(Gly179Trp)" "r.(?)" "" "" "" "" "" "-" "0000025399" "00000391" "00" "469" "0" "469" "0" "c.469G>T" "" "p.(Gly157Trp)" "r.(?)" "" "" "" "" "" "-" "0000025400" "00000388" "00" "607" "0" "607" "0" "c.607G>A" "" "p.(Ala203Thr)" "r.(?)" "" "" "" "" "" "-" "0000025400" "00000389" "00" "310" "0" "310" "0" "c.310G>A" "" "p.(Ala104Thr)" "r.(?)" "" "" "" "" "" "-" "0000025400" "00000390" "00" "538" "0" "538" "0" "c.538G>A" "" "p.(Ala180Thr)" "r.(?)" "" "" "" "" "" "-" "0000025400" "00000391" "00" "472" "0" "472" "0" "c.472G>A" "" "p.(Ala158Thr)" "r.(?)" "" "" "" "" "" "-" "0000025401" "00000388" "00" "647" "0" "647" "0" "c.647G>A" "" "p.(Gly216Asp)" "r.(?)" "" "" "" "" "" "-" "0000025401" "00000389" "00" "350" "0" "350" "0" "c.350G>A" "" "p.(Gly117Asp)" "r.(?)" "" "" "" "" "" "-" "0000025401" "00000390" "00" "578" "0" "578" "0" "c.578G>A" "" "p.(Gly193Asp)" "r.(?)" "" "" "" "" "" "-" "0000025401" "00000391" "00" "512" "0" "512" "0" "c.512G>A" "" "p.(Gly171Asp)" "r.(?)" "" "" "" "" "" "-" "0000025402" "00000388" "00" "672" "0" "672" "0" "c.672C>G" "" "p.(Tyr224*)" "r.(?)" "" "" "" "" "" "-" "0000025402" "00000389" "00" "375" "0" "375" "0" "c.375C>G" "" "p.(Tyr125*)" "r.(?)" "" "" "" "" "" "-" "0000025402" "00000390" "00" "603" "0" "603" "0" "c.603C>G" "" "p.(Tyr201*)" "r.(?)" "" "" "" "" "" "-" "0000025402" "00000391" "00" "537" "0" "537" "0" "c.537C>G" "" "p.(Tyr179*)" "r.(?)" "" "" "" "" "" "-" "0000025403" "00000388" "00" "688" "0" "688" "0" "c.688T>C" "" "p.(Ser230Pro)" "r.(?)" "" "" "" "" "" "-" "0000025403" "00000389" "00" "391" "0" "391" "0" "c.391T>C" "" "p.(Ser131Pro)" "r.(?)" "" "" "" "" "" "-" "0000025403" "00000390" "00" "619" "0" "619" "0" "c.619T>C" "" "p.(Ser207Pro)" "r.(?)" "" "" "" "" "" "-" "0000025403" "00000391" "00" "553" "0" "553" "0" "c.553T>C" "" "p.(Ser185Pro)" "r.(?)" "" "" "" "" "" "-" "0000025404" "00000388" "00" "692" "-2" "692" "-1" "c.692-2_692-1del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025404" "00000389" "00" "395" "-2" "395" "-1" "c.395-2_395-1del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025404" "00000390" "00" "623" "-2" "623" "-1" "c.623-2_623-1del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025404" "00000391" "00" "557" "-2" "557" "-1" "c.557-2_557-1del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025405" "00000388" "00" "706" "0" "706" "0" "c.706G>C" "" "p.(Ala236Pro)" "r.(?)" "" "" "" "" "" "-" "0000025405" "00000389" "00" "409" "0" "409" "0" "c.409G>C" "" "p.(Ala137Pro)" "r.(?)" "" "" "" "" "" "-" "0000025405" "00000390" "00" "637" "0" "637" "0" "c.637G>C" "" "p.(Ala213Pro)" "r.(?)" "" "" "" "" "" "-" "0000025405" "00000391" "00" "571" "0" "571" "0" "c.571G>C" "" "p.(Ala191Pro)" "r.(?)" "" "" "" "" "" "-" "0000025406" "00000388" "00" "720" "0" "721" "0" "c.720_721insGAGCCCTCAAGCGGGTCAGATGCAGCCTCCA" "" "p.(Ile251Argfs*35)" "r.(?)" "" "" "" "" "" "-" "0000025406" "00000389" "00" "423" "0" "424" "0" "c.423_424insGAGCCCTCAAGCGGGTCAGATGCAGCCTCCA" "" "p.(Ile152Argfs*35)" "r.(?)" "" "" "" "" "" "-" "0000025406" "00000390" "00" "651" "0" "652" "0" "c.651_652insGAGCCCTCAAGCGGGTCAGATGCAGCCTCCA" "" "p.(Ile228Argfs*35)" "r.(?)" "" "" "" "" "" "-" "0000025406" "00000391" "00" "585" "0" "586" "0" "c.585_586insGAGCCCTCAAGCGGGTCAGATGCAGCCTCCA" "" "p.(Ile206Argfs*35)" "r.(?)" "" "" "" "" "" "-" "0000025407" "00000388" "00" "808" "0" "808" "0" "c.808A>G" "" "p.(Lys270Glu)" "r.(?)" "" "" "" "" "" "-" "0000025407" "00000389" "00" "511" "0" "511" "0" "c.511A>G" "" "p.(Lys171Glu)" "r.(?)" "" "" "" "" "" "-" "0000025407" "00000390" "00" "739" "0" "739" "0" "c.739A>G" "" "p.(Lys247Glu)" "r.(?)" "" "" "" "" "" "-" "0000025407" "00000391" "00" "673" "0" "673" "0" "c.673A>G" "" "p.(Lys225Glu)" "r.(?)" "" "" "" "" "" "-" "0000025408" "00000388" "00" "821" "24" "821" "24" "c.821+24C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025408" "00000389" "00" "524" "24" "524" "24" "c.524+24C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025408" "00000390" "00" "752" "24" "752" "24" "c.752+24C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025408" "00000391" "00" "686" "24" "686" "24" "c.686+24C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025409" "00000388" "00" "826" "0" "828" "0" "c.826_828del" "" "p.(Gly277del)" "r.(?)" "" "" "" "" "" "-" "0000025409" "00000389" "00" "529" "0" "531" "0" "c.529_531del" "" "p.(Gly178del)" "r.(?)" "" "" "" "" "" "-" "0000025409" "00000390" "00" "757" "0" "759" "0" "c.757_759del" "" "p.(Gly254del)" "r.(?)" "" "" "" "" "" "-" "0000025409" "00000391" "00" "691" "0" "693" "0" "c.691_693del" "" "p.(Gly232del)" "r.(?)" "" "" "" "" "" "-" "0000025410" "00000388" "00" "877" "0" "877" "0" "c.877del" "" "p.(Pro293Glnfs*6)" "r.(?)" "" "" "" "" "" "-" "0000025410" "00000389" "00" "580" "0" "580" "0" "c.580del" "" "p.(Pro194Glnfs*6)" "r.(?)" "" "" "" "" "" "-" "0000025410" "00000390" "00" "808" "0" "808" "0" "c.808del" "" "p.(Pro270Glnfs*6)" "r.(?)" "" "" "" "" "" "-" "0000025410" "00000391" "00" "742" "0" "742" "0" "c.742del" "" "p.(Pro248Glnfs*6)" "r.(?)" "" "" "" "" "" "-" "0000025411" "00000388" "00" "967" "0" "967" "0" "c.967A>G" "" "p.(Met323Val)" "r.(?)" "" "" "" "" "" "-" "0000025411" "00000389" "00" "670" "0" "670" "0" "c.670A>G" "" "p.(Met224Val)" "r.(?)" "" "" "" "" "" "-" "0000025411" "00000390" "00" "898" "0" "898" "0" "c.898A>G" "" "p.(Met300Val)" "r.(?)" "" "" "" "" "" "-" "0000025411" "00000391" "00" "832" "0" "832" "0" "c.832A>G" "" "p.(Met278Val)" "r.(?)" "" "" "" "" "" "-" "0000025412" "00000388" "00" "976" "0" "976" "0" "c.976A>G" "" "p.(Lys326Glu)" "r.(?)" "" "" "" "" "" "-" "0000025412" "00000389" "00" "679" "0" "679" "0" "c.679A>G" "" "p.(Lys227Glu)" "r.(?)" "" "" "" "" "" "-" "0000025412" "00000390" "00" "907" "0" "907" "0" "c.907A>G" "" "p.(Lys303Glu)" "r.(?)" "" "" "" "" "" "-" "0000025412" "00000391" "00" "841" "0" "841" "0" "c.841A>G" "" "p.(Lys281Glu)" "r.(?)" "" "" "" "" "" "-" "0000025413" "00000388" "00" "1000" "0" "1000" "0" "c.1000del" "" "p.(Phe334Serfs*42)" "r.(?)" "" "" "" "" "" "-" "0000025413" "00000389" "00" "703" "0" "703" "0" "c.703del" "" "p.(Phe235Serfs*42)" "r.(?)" "" "" "" "" "" "-" "0000025413" "00000390" "00" "931" "0" "931" "0" "c.931del" "" "p.(Phe311Serfs*42)" "r.(?)" "" "" "" "" "" "-" "0000025413" "00000391" "00" "865" "0" "865" "0" "c.865del" "" "p.(Phe289Serfs*42)" "r.(?)" "" "" "" "" "" "-" "0000025414" "00000388" "00" "1013" "0" "1013" "0" "c.1013T>G" "" "p.(Val338Gly)" "r.(?)" "" "" "" "" "" "-" "0000025414" "00000389" "00" "716" "0" "716" "0" "c.716T>G" "" "p.(Val239Gly)" "r.(?)" "" "" "" "" "" "-" "0000025414" "00000390" "00" "944" "0" "944" "0" "c.944T>G" "" "p.(Val315Gly)" "r.(?)" "" "" "" "" "" "-" "0000025414" "00000391" "00" "878" "0" "878" "0" "c.878T>G" "" "p.(Val293Gly)" "r.(?)" "" "" "" "" "" "-" "0000025415" "00000388" "00" "1019" "0" "1019" "0" "c.1019T>C" "" "p.(Val340Ala)" "r.(?)" "" "" "" "" "" "-" "0000025415" "00000389" "00" "722" "0" "722" "0" "c.722T>C" "" "p.(Val241Ala)" "r.(?)" "" "" "" "" "" "-" "0000025415" "00000390" "00" "950" "0" "950" "0" "c.950T>C" "" "p.(Val317Ala)" "r.(?)" "" "" "" "" "" "-" "0000025415" "00000391" "00" "884" "0" "884" "0" "c.884T>C" "" "p.(Val295Ala)" "r.(?)" "" "" "" "" "" "-" "0000025416" "00000388" "00" "1025" "0" "1025" "0" "c.1025C>A" "" "p.(Ser342*)" "r.(?)" "" "" "" "" "" "-" "0000025416" "00000389" "00" "728" "0" "728" "0" "c.728C>A" "" "p.(Ser243*)" "r.(?)" "" "" "" "" "" "-" "0000025416" "00000390" "00" "956" "0" "956" "0" "c.956C>A" "" "p.(Ser319*)" "r.(?)" "" "" "" "" "" "-" "0000025416" "00000391" "00" "890" "0" "890" "0" "c.890C>A" "" "p.(Ser297*)" "r.(?)" "" "" "" "" "" "-" "0000025417" "00000388" "00" "1061" "0" "1061" "0" "c.1061A>C" "" "p.(Lys354Thr)" "r.(?)" "" "" "" "" "" "-" "0000025417" "00000389" "00" "764" "0" "764" "0" "c.764A>C" "" "p.(Lys255Thr)" "r.(?)" "" "" "" "" "" "-" "0000025417" "00000390" "00" "992" "0" "992" "0" "c.992A>C" "" "p.(Lys331Thr)" "r.(?)" "" "" "" "" "" "-" "0000025417" "00000391" "00" "926" "0" "926" "0" "c.926A>C" "" "p.(Lys309Thr)" "r.(?)" "" "" "" "" "" "-" "0000025418" "00000388" "00" "1070" "0" "1070" "0" "c.1070T>G" "" "p.(Met357Arg)" "r.(?)" "" "" "" "" "" "-" "0000025418" "00000389" "00" "773" "0" "773" "0" "c.773T>G" "" "p.(Met258Arg)" "r.(?)" "" "" "" "" "" "-" "0000025418" "00000390" "00" "1001" "0" "1001" "0" "c.1001T>G" "" "p.(Met334Arg)" "r.(?)" "" "" "" "" "" "-" "0000025418" "00000391" "00" "935" "0" "935" "0" "c.935T>G" "" "p.(Met312Arg)" "r.(?)" "" "" "" "" "" "-" "0000025419" "00000388" "00" "1076" "0" "1078" "0" "c.1076_1078del" "" "p.(Leu360del)" "r.(?)" "" "" "" "" "" "-" "0000025419" "00000389" "00" "779" "0" "781" "0" "c.779_781del" "" "p.(Leu261del)" "r.(?)" "" "" "" "" "" "-" "0000025419" "00000390" "00" "1007" "0" "1009" "0" "c.1007_1009del" "" "p.(Leu337del)" "r.(?)" "" "" "" "" "" "-" "0000025419" "00000391" "00" "941" "0" "943" "0" "c.941_943del" "" "p.(Leu315del)" "r.(?)" "" "" "" "" "" "-" "0000025420" "00000388" "00" "1076" "0" "1095" "0" "c.1076_1095del" "" "p.(Ile359Argfs*16)" "r.(?)" "" "" "" "" "" "-" "0000025420" "00000389" "00" "779" "0" "798" "0" "c.779_798del" "" "p.(Ile260Argfs*16)" "r.(?)" "" "" "" "" "" "-" "0000025420" "00000390" "00" "1007" "0" "1026" "0" "c.1007_1026del" "" "p.(Ile336Argfs*16)" "r.(?)" "" "" "" "" "" "-" "0000025420" "00000391" "00" "941" "0" "960" "0" "c.941_960del" "" "p.(Ile314Argfs*16)" "r.(?)" "" "" "" "" "" "-" "0000025421" "00000388" "00" "1078" "0" "1078" "0" "c.1078C>T" "" "p.(Leu360Phe)" "r.(?)" "" "" "" "" "" "-" "0000025421" "00000389" "00" "781" "0" "781" "0" "c.781C>T" "" "p.(Leu261Phe)" "r.(?)" "" "" "" "" "" "-" "0000025421" "00000390" "00" "1009" "0" "1009" "0" "c.1009C>T" "" "p.(Leu337Phe)" "r.(?)" "" "" "" "" "" "-" "0000025421" "00000391" "00" "943" "0" "943" "0" "c.943C>T" "" "p.(Leu315Phe)" "r.(?)" "" "" "" "" "" "-" "0000025422" "00000388" "00" "1106" "0" "1106" "0" "c.1106C>T" "" "p.(Ala369Val)" "r.(?)" "" "" "" "" "" "-" "0000025422" "00000389" "00" "809" "0" "809" "0" "c.809C>T" "" "p.(Ala270Val)" "r.(?)" "" "" "" "" "" "-" "0000025422" "00000390" "00" "1037" "0" "1037" "0" "c.1037C>T" "" "p.(Ala346Val)" "r.(?)" "" "" "" "" "" "-" "0000025422" "00000391" "00" "971" "0" "971" "0" "c.971C>T" "" "p.(Ala324Val)" "r.(?)" "" "" "" "" "" "-" "0000025423" "00000388" "00" "1110" "0" "1111" "0" "c.1110_1111insCTGGCAGGTACCATGAGAGGCAT" "" "p.(Ile379Trpfs*5)" "r.(?)" "" "" "" "" "" "-" "0000025423" "00000389" "00" "813" "0" "814" "0" "c.813_814insCTGGCAGGTACCATGAGAGGCAT" "" "p.(Ile280Trpfs*5)" "r.(?)" "" "" "" "" "" "-" "0000025423" "00000390" "00" "1041" "0" "1042" "0" "c.1041_1042insCTGGCAGGTACCATGAGAGGCAT" "" "p.(Ile356Trpfs*5)" "r.(?)" "" "" "" "" "" "-" "0000025423" "00000391" "00" "975" "0" "976" "0" "c.975_976insCTGGCAGGTACCATGAGAGGCAT" "" "p.(Ile334Trpfs*5)" "r.(?)" "" "" "" "" "" "-" "0000025424" "00000388" "00" "1131" "0" "1133" "0" "c.1131_1133del" "" "p.(Ile379del)" "r.(?)" "" "" "" "" "" "-" "0000025424" "00000389" "00" "834" "0" "836" "0" "c.834_836del" "" "p.(Ile280del)" "r.(?)" "" "" "" "" "" "-" "0000025424" "00000390" "00" "1062" "0" "1064" "0" "c.1062_1064del" "" "p.(Ile356del)" "r.(?)" "" "" "" "" "" "-" "0000025424" "00000391" "00" "996" "0" "998" "0" "c.996_998del" "" "p.(Ile334del)" "r.(?)" "" "" "" "" "" "-" "0000025425" "00000388" "00" "1146" "1" "1146" "1" "c.1146+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025425" "00000389" "00" "849" "1" "849" "1" "c.849+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025425" "00000390" "00" "1077" "1" "1077" "1" "c.1077+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025425" "00000391" "00" "1011" "1" "1011" "1" "c.1011+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025426" "00000388" "00" "1165" "0" "1165" "0" "c.1165C>T" "" "p.(Arg389Cys)" "r.(?)" "" "" "" "" "" "-" "0000025426" "00000389" "00" "868" "0" "868" "0" "c.868C>T" "" "p.(Arg290Cys)" "r.(?)" "" "" "" "" "" "-" "0000025426" "00000390" "00" "1096" "0" "1096" "0" "c.1096C>T" "" "p.(Arg366Cys)" "r.(?)" "" "" "" "" "" "-" "0000025426" "00000391" "00" "1030" "0" "1030" "0" "c.1030C>T" "" "p.(Arg344Cys)" "r.(?)" "" "" "" "" "" "-" "0000025427" "00000388" "00" "1222" "0" "1222" "0" "c.1222C>T" "" "p.(Arg408Trp)" "r.(?)" "" "" "" "" "" "-" "0000025427" "00000389" "00" "925" "0" "925" "0" "c.925C>T" "" "p.(Arg309Trp)" "r.(?)" "" "" "" "" "" "-" "0000025427" "00000390" "00" "1153" "0" "1153" "0" "c.1153C>T" "" "p.(Arg385Trp)" "r.(?)" "" "" "" "" "" "-" "0000025427" "00000391" "00" "1087" "0" "1087" "0" "c.1087C>T" "" "p.(Arg363Trp)" "r.(?)" "" "" "" "" "" "-" "0000025428" "00000388" "00" "1251" "2" "1251" "2" "c.1251+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025428" "00000389" "00" "954" "2" "954" "2" "c.954+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025428" "00000390" "00" "1182" "2" "1182" "2" "c.1182+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025428" "00000391" "00" "1116" "2" "1116" "2" "c.1116+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025429" "00000388" "00" "1252" "-15" "1252" "-15" "c.1252-15A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025429" "00000389" "00" "955" "-15" "955" "-15" "c.955-15A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025429" "00000390" "00" "1183" "-15" "1183" "-15" "c.1183-15A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025429" "00000391" "00" "1117" "-15" "1117" "-15" "c.1117-15A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025430" "00000388" "00" "1252" "-7" "1252" "-7" "c.1252-7A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025430" "00000389" "00" "955" "-7" "955" "-7" "c.955-7A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025430" "00000390" "00" "1183" "-7" "1183" "-7" "c.1183-7A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025430" "00000391" "00" "1117" "-7" "1117" "-7" "c.1117-7A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025431" "00000388" "00" "1252" "-3" "1252" "-2" "c.1252-3_1252-2insA" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025431" "00000389" "00" "955" "-3" "955" "-2" "c.955-3_955-2insA" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025431" "00000390" "00" "1183" "-3" "1183" "-2" "c.1183-3_1183-2insA" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025431" "00000391" "00" "1117" "-3" "1117" "-2" "c.1117-3_1117-2insA" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025432" "00000388" "00" "1267" "0" "1267" "0" "c.1267G>A" "" "p.(Val423Met)" "r.(?)" "" "" "" "" "" "-" "0000025432" "00000389" "00" "970" "0" "970" "0" "c.970G>A" "" "p.(Val324Met)" "r.(?)" "" "" "" "" "" "-" "0000025432" "00000390" "00" "1198" "0" "1198" "0" "c.1198G>A" "" "p.(Val400Met)" "r.(?)" "" "" "" "" "" "-" "0000025432" "00000391" "00" "1132" "0" "1132" "0" "c.1132G>A" "" "p.(Val378Met)" "r.(?)" "" "" "" "" "" "-" "0000025433" "00000388" "00" "1286" "0" "1286" "0" "c.1286A>C" "" "p.(Gln429Pro)" "r.(?)" "" "" "" "" "" "-" "0000025433" "00000389" "00" "989" "0" "989" "0" "c.989A>C" "" "p.(Gln330Pro)" "r.(?)" "" "" "" "" "" "-" "0000025433" "00000390" "00" "1217" "0" "1217" "0" "c.1217A>C" "" "p.(Gln406Pro)" "r.(?)" "" "" "" "" "" "-" "0000025433" "00000391" "00" "1151" "0" "1151" "0" "c.1151A>C" "" "p.(Gln384Pro)" "r.(?)" "" "" "" "" "" "-" "0000025434" "00000388" "00" "1315" "0" "1315" "0" "c.1315G>T" "" "p.(Ala439Ser)" "r.(?)" "" "" "" "" "" "-" "0000025434" "00000389" "00" "1018" "0" "1018" "0" "c.1018G>T" "" "p.(Ala340Ser)" "r.(?)" "" "" "" "" "" "-" "0000025434" "00000390" "00" "1246" "0" "1246" "0" "c.1246G>T" "" "p.(Ala416Ser)" "r.(?)" "" "" "" "" "" "-" "0000025434" "00000391" "00" "1180" "0" "1180" "0" "c.1180G>T" "" "p.(Ala394Ser)" "r.(?)" "" "" "" "" "" "-" "0000025435" "00000388" "00" "1337" "0" "1337" "0" "c.1337C>T" "" "p.(Ser446Leu)" "r.(?)" "" "" "" "" "" "-" "0000025435" "00000389" "00" "1040" "0" "1040" "0" "c.1040C>T" "" "p.(Ser347Leu)" "r.(?)" "" "" "" "" "" "-" "0000025435" "00000390" "00" "1268" "0" "1268" "0" "c.1268C>T" "" "p.(Ser423Leu)" "r.(?)" "" "" "" "" "" "-" "0000025435" "00000391" "00" "1202" "0" "1202" "0" "c.1202C>T" "" "p.(Ser401Leu)" "r.(?)" "" "" "" "" "" "-" "0000025436" "00000388" "00" "1338" "0" "1338" "0" "c.1338G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025436" "00000389" "00" "1041" "0" "1041" "0" "c.1041G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025436" "00000390" "00" "1269" "0" "1269" "0" "c.1269G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025436" "00000391" "00" "1203" "0" "1203" "0" "c.1203G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025437" "00000388" "00" "1338" "1" "1338" "1" "c.1338+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025437" "00000389" "00" "1041" "1" "1041" "1" "c.1041+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025437" "00000390" "00" "1269" "1" "1269" "1" "c.1269+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025437" "00000391" "00" "1203" "1" "1203" "1" "c.1203+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025438" "00000388" "00" "1339" "-38" "1339" "-38" "c.1339-38A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025438" "00000389" "00" "1042" "-38" "1042" "-38" "c.1042-38A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025438" "00000390" "00" "1270" "-38" "1270" "-38" "c.1270-38A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025438" "00000391" "00" "1204" "-38" "1204" "-38" "c.1204-38A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025439" "00000388" "00" "1351" "0" "1351" "0" "c.1351del" "" "p.(Lys451Argfs*2)" "r.(?)" "" "" "" "" "" "-" "0000025439" "00000389" "00" "1054" "0" "1054" "0" "c.1054del" "" "p.(Lys352Argfs*2)" "r.(?)" "" "" "" "" "" "-" "0000025439" "00000390" "00" "1282" "0" "1282" "0" "c.1282del" "" "p.(Lys428Argfs*2)" "r.(?)" "" "" "" "" "" "-" "0000025439" "00000391" "00" "1216" "0" "1216" "0" "c.1216del" "" "p.(Lys406Argfs*2)" "r.(?)" "" "" "" "" "" "-" "0000025440" "00000388" "00" "1360" "0" "1360" "0" "c.1360G>C" "" "p.(Asp454His)" "r.(?)" "" "" "" "" "" "-" "0000025440" "00000389" "00" "1063" "0" "1063" "0" "c.1063G>C" "" "p.(Asp355His)" "r.(?)" "" "" "" "" "" "-" "0000025440" "00000390" "00" "1291" "0" "1291" "0" "c.1291G>C" "" "p.(Asp431His)" "r.(?)" "" "" "" "" "" "-" "0000025440" "00000391" "00" "1225" "0" "1225" "0" "c.1225G>C" "" "p.(Asp409His)" "r.(?)" "" "" "" "" "" "-" "0000025441" "00000388" "00" "1385" "0" "1385" "0" "c.1385G>A" "" "p.(Gly462Asp)" "r.(?)" "" "" "" "" "" "-" "0000025441" "00000389" "00" "1088" "0" "1088" "0" "c.1088G>A" "" "p.(Gly363Asp)" "r.(?)" "" "" "" "" "" "-" "0000025441" "00000390" "00" "1316" "0" "1316" "0" "c.1316G>A" "" "p.(Gly439Asp)" "r.(?)" "" "" "" "" "" "-" "0000025441" "00000391" "00" "1250" "0" "1250" "0" "c.1250G>A" "" "p.(Gly417Asp)" "r.(?)" "" "" "" "" "" "-" "0000025442" "00000388" "00" "1397" "0" "1397" "0" "c.1397T>G" "" "p.(Met466Arg)" "r.(?)" "" "" "" "" "" "-" "0000025442" "00000389" "00" "1100" "0" "1100" "0" "c.1100T>G" "" "p.(Met367Arg)" "r.(?)" "" "" "" "" "" "-" "0000025442" "00000390" "00" "1328" "0" "1328" "0" "c.1328T>G" "" "p.(Met443Arg)" "r.(?)" "" "" "" "" "" "-" "0000025442" "00000391" "00" "1262" "0" "1262" "0" "c.1262T>G" "" "p.(Met421Arg)" "r.(?)" "" "" "" "" "" "-" "0000025443" "00000388" "00" "1401" "27" "1401" "27" "c.1401+27C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025443" "00000389" "00" "1104" "27" "1104" "27" "c.1104+27C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025443" "00000390" "00" "1332" "27" "1332" "27" "c.1332+27C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025443" "00000391" "00" "1266" "27" "1266" "27" "c.1266+27C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025444" "00000388" "00" "1402" "-25" "1402" "-25" "c.1402-25T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025444" "00000389" "00" "1105" "-25" "1105" "-25" "c.1105-25T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025444" "00000390" "00" "1333" "-25" "1333" "-25" "c.1333-25T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025444" "00000391" "00" "1267" "-25" "1267" "-25" "c.1267-25T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025445" "00000388" "00" "1429" "0" "1429" "0" "c.1429G>A" "" "p.(Asp477Asn)" "r.(?)" "" "" "" "" "" "-" "0000025445" "00000389" "00" "1132" "0" "1132" "0" "c.1132G>A" "" "p.(Asp378Asn)" "r.(?)" "" "" "" "" "" "-" "0000025445" "00000390" "00" "1360" "0" "1360" "0" "c.1360G>A" "" "p.(Asp454Asn)" "r.(?)" "" "" "" "" "" "-" "0000025445" "00000391" "00" "1294" "0" "1294" "0" "c.1294G>A" "" "p.(Asp432Asn)" "r.(?)" "" "" "" "" "" "-" "0000025446" "00000388" "00" "1435" "0" "1435" "0" "c.1435C>T" "" "p.(Arg479Cys)" "r.(?)" "" "" "" "" "" "-" "0000025446" "00000389" "00" "1138" "0" "1138" "0" "c.1138C>T" "" "p.(Arg380Cys)" "r.(?)" "" "" "" "" "" "-" "0000025446" "00000390" "00" "1366" "0" "1366" "0" "c.1366C>T" "" "p.(Arg456Cys)" "r.(?)" "" "" "" "" "" "-" "0000025446" "00000391" "00" "1300" "0" "1300" "0" "c.1300C>T" "" "p.(Arg434Cys)" "r.(?)" "" "" "" "" "" "-" "0000025447" "00000388" "00" "1499" "0" "1499" "0" "c.1499G>A" "" "p.(Cys500Tyr)" "r.(?)" "" "" "" "" "" "-" "0000025447" "00000389" "00" "1202" "0" "1202" "0" "c.1202G>A" "" "p.(Cys401Tyr)" "r.(?)" "" "" "" "" "" "-" "0000025447" "00000390" "00" "1430" "0" "1430" "0" "c.1430G>A" "" "p.(Cys477Tyr)" "r.(?)" "" "" "" "" "" "-" "0000025447" "00000391" "00" "1364" "0" "1364" "0" "c.1364G>A" "" "p.(Cys455Tyr)" "r.(?)" "" "" "" "" "" "-" "0000025448" "00000388" "00" "1503" "2" "1503" "2" "c.1503+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025448" "00000389" "00" "1206" "2" "1206" "2" "c.1206+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025448" "00000390" "00" "1434" "2" "1434" "2" "c.1434+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025448" "00000391" "00" "1368" "2" "1368" "2" "c.1368+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025449" "00000388" "00" "1503" "23" "1503" "23" "c.1503+23G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025449" "00000389" "00" "1206" "23" "1206" "23" "c.1206+23G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025449" "00000390" "00" "1434" "23" "1434" "23" "c.1434+23G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025449" "00000391" "00" "1368" "23" "1368" "23" "c.1368+23G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025450" "00000388" "00" "1503" "24" "1503" "24" "c.1503+24G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025450" "00000389" "00" "1206" "24" "1206" "24" "c.1206+24G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025450" "00000390" "00" "1434" "24" "1434" "24" "c.1434+24G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025450" "00000391" "00" "1368" "24" "1368" "24" "c.1368+24G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025451" "00000388" "00" "1503" "27" "1503" "27" "c.1503+27G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025451" "00000389" "00" "1206" "27" "1206" "27" "c.1206+27G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025451" "00000390" "00" "1434" "27" "1434" "27" "c.1434+27G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025451" "00000391" "00" "1368" "27" "1368" "27" "c.1368+27G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025452" "00000388" "00" "1503" "38" "1503" "38" "c.1503+38G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025452" "00000389" "00" "1206" "38" "1206" "38" "c.1206+38G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025452" "00000390" "00" "1434" "38" "1434" "38" "c.1434+38G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025452" "00000391" "00" "1368" "38" "1368" "38" "c.1368+38G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025453" "00000388" "00" "1565" "0" "1565" "0" "c.1565G>C" "" "p.(Gly522Ala)" "r.(?)" "" "" "" "" "" "-" "0000025453" "00000389" "00" "1268" "0" "1268" "0" "c.1268G>C" "" "p.(Gly423Ala)" "r.(?)" "" "" "" "" "" "-" "0000025453" "00000390" "00" "1496" "0" "1496" "0" "c.1496G>C" "" "p.(Gly499Ala)" "r.(?)" "" "" "" "" "" "-" "0000025453" "00000391" "00" "1430" "0" "1430" "0" "c.1430G>C" "" "p.(Gly477Ala)" "r.(?)" "" "" "" "" "" "-" "0000025454" "00000388" "00" "1601" "0" "1601" "0" "c.1601G>C" "" "p.(Arg534Pro)" "r.(?)" "" "" "" "" "" "-" "0000025454" "00000389" "00" "1304" "0" "1304" "0" "c.1304G>C" "" "p.(Arg435Pro)" "r.(?)" "" "" "" "" "" "-" "0000025454" "00000390" "00" "1532" "0" "1532" "0" "c.1532G>C" "" "p.(Arg511Pro)" "r.(?)" "" "" "" "" "" "-" "0000025454" "00000391" "00" "1466" "0" "1466" "0" "c.1466G>C" "" "p.(Arg489Pro)" "r.(?)" "" "" "" "" "" "-" "0000025455" "00000388" "00" "1601" "7" "1601" "7" "c.1601+7T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025455" "00000389" "00" "1304" "7" "1304" "7" "c.1304+7T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025455" "00000390" "00" "1532" "7" "1532" "7" "c.1532+7T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025455" "00000391" "00" "1466" "7" "1466" "7" "c.1466+7T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025456" "00000388" "00" "1601" "11" "1601" "11" "c.1601+11G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025456" "00000389" "00" "1304" "11" "1304" "11" "c.1304+11G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025456" "00000390" "00" "1532" "11" "1532" "11" "c.1532+11G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025456" "00000391" "00" "1466" "11" "1466" "11" "c.1466+11G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025457" "00000388" "00" "1674" "22" "1674" "22" "c.1674+22A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025457" "00000389" "00" "1377" "22" "1377" "22" "c.1377+22A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025457" "00000390" "00" "1605" "22" "1605" "22" "c.1605+22A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025457" "00000391" "00" "1539" "22" "1539" "22" "c.1539+22A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025458" "00000388" "00" "1675" "-42" "1675" "-42" "c.1675-42C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025458" "00000389" "00" "1378" "-42" "1378" "-42" "c.1378-42C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025458" "00000390" "00" "1606" "-42" "1606" "-42" "c.1606-42C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025458" "00000391" "00" "1540" "-42" "1540" "-42" "c.1540-42C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025459" "00000388" "00" "1675" "-42" "1675" "-42" "c.1675-42C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025459" "00000389" "00" "1378" "-42" "1378" "-42" "c.1378-42C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025459" "00000390" "00" "1606" "-42" "1606" "-42" "c.1606-42C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025459" "00000391" "00" "1540" "-42" "1540" "-42" "c.1540-42C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025460" "00000388" "00" "1675" "-36" "1675" "-36" "c.1675-36G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025460" "00000389" "00" "1378" "-36" "1378" "-36" "c.1378-36G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025460" "00000390" "00" "1606" "-36" "1606" "-36" "c.1606-36G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025460" "00000391" "00" "1540" "-36" "1540" "-36" "c.1540-36G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025461" "00000388" "00" "1675" "-28" "1675" "-28" "c.1675-28G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025461" "00000389" "00" "1378" "-28" "1378" "-28" "c.1378-28G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025461" "00000390" "00" "1606" "-28" "1606" "-28" "c.1606-28G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025461" "00000391" "00" "1540" "-28" "1540" "-28" "c.1540-28G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025462" "00000388" "00" "1675" "-22" "1675" "-22" "c.1675-22C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025462" "00000389" "00" "1378" "-22" "1378" "-22" "c.1378-22C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025462" "00000390" "00" "1606" "-22" "1606" "-22" "c.1606-22C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025462" "00000391" "00" "1540" "-22" "1540" "-22" "c.1540-22C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025463" "00000388" "00" "1675" "-2" "1675" "-2" "c.1675-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025463" "00000389" "00" "1378" "-2" "1378" "-2" "c.1378-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025463" "00000390" "00" "1606" "-2" "1606" "-2" "c.1606-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025463" "00000391" "00" "1540" "-2" "1540" "-2" "c.1540-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025464" "00000388" "00" "1686" "0" "1686" "0" "c.1686T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025464" "00000389" "00" "1389" "0" "1389" "0" "c.1389T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025464" "00000390" "00" "1617" "0" "1617" "0" "c.1617T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025464" "00000391" "00" "1551" "0" "1551" "0" "c.1551T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025465" "00000388" "00" "1747" "15" "1747" "15" "c.1747+15C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025465" "00000389" "00" "1450" "15" "1450" "15" "c.1450+15C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025465" "00000390" "00" "1678" "15" "1678" "15" "c.1678+15C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025465" "00000391" "00" "1612" "15" "1612" "15" "c.1612+15C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025466" "00000388" "00" "1747" "22" "1747" "22" "c.1747+22C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025466" "00000389" "00" "1450" "22" "1450" "22" "c.1450+22C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025466" "00000390" "00" "1678" "22" "1678" "22" "c.1678+22C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025466" "00000391" "00" "1612" "22" "1612" "22" "c.1612+22C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025467" "00000388" "00" "1747" "24" "1747" "24" "c.1747+24G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025467" "00000389" "00" "1450" "24" "1450" "24" "c.1450+24G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025467" "00000390" "00" "1678" "24" "1678" "24" "c.1678+24G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025467" "00000391" "00" "1612" "24" "1612" "24" "c.1612+24G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025468" "00000388" "00" "1747" "27" "1747" "27" "c.1747+27C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025468" "00000389" "00" "1450" "27" "1450" "27" "c.1450+27C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025468" "00000390" "00" "1678" "27" "1678" "27" "c.1678+27C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025468" "00000391" "00" "1612" "27" "1612" "27" "c.1612+27C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025469" "00000388" "00" "1747" "39" "1747" "39" "c.1747+39C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025469" "00000389" "00" "1450" "39" "1450" "39" "c.1450+39C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025469" "00000390" "00" "1678" "39" "1678" "39" "c.1678+39C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025469" "00000391" "00" "1612" "39" "1612" "39" "c.1612+39C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025470" "00000388" "00" "1748" "-34" "1748" "-34" "c.1748-34C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025470" "00000389" "00" "1451" "-34" "1451" "-34" "c.1451-34C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025470" "00000390" "00" "1679" "-34" "1679" "-34" "c.1679-34C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025470" "00000391" "00" "1613" "-34" "1613" "-34" "c.1613-34C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025471" "00000388" "00" "1748" "-6" "1748" "-6" "c.1748-6del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025471" "00000389" "00" "1451" "-6" "1451" "-6" "c.1451-6del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025471" "00000390" "00" "1679" "-6" "1679" "-6" "c.1679-6del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025471" "00000391" "00" "1613" "-6" "1613" "-6" "c.1613-6del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025472" "00000388" "00" "1779" "0" "1780" "0" "c.1779_1780insG" "" "p.(Ala595Glyfs*20)" "r.(?)" "" "" "" "" "" "-" "0000025472" "00000389" "00" "1482" "0" "1483" "0" "c.1482_1483insG" "" "p.(Ala496Glyfs*20)" "r.(?)" "" "" "" "" "" "-" "0000025472" "00000390" "00" "1710" "0" "1711" "0" "c.1710_1711insG" "" "p.(Ala572Glyfs*20)" "r.(?)" "" "" "" "" "" "-" "0000025472" "00000391" "00" "1644" "0" "1645" "0" "c.1644_1645insG" "" "p.(Ala550Glyfs*20)" "r.(?)" "" "" "" "" "" "-" "0000025473" "00000388" "00" "1802" "0" "1802" "0" "c.1802T>C" "" "p.(Met601Thr)" "r.(?)" "" "" "" "" "" "-" "0000025473" "00000389" "00" "1505" "0" "1505" "0" "c.1505T>C" "" "p.(Met502Thr)" "r.(?)" "" "" "" "" "" "-" "0000025473" "00000390" "00" "1733" "0" "1733" "0" "c.1733T>C" "" "p.(Met578Thr)" "r.(?)" "" "" "" "" "" "-" "0000025473" "00000391" "00" "1667" "0" "1667" "0" "c.1667T>C" "" "p.(Met556Thr)" "r.(?)" "" "" "" "" "" "-" "0000025474" "00000388" "00" "1817" "0" "1817" "0" "c.1817C>G" "" "p.(Ser606Trp)" "r.(?)" "" "" "" "" "" "-" "0000025474" "00000389" "00" "1520" "0" "1520" "0" "c.1520C>G" "" "p.(Ser507Trp)" "r.(?)" "" "" "" "" "" "-" "0000025474" "00000390" "00" "1748" "0" "1748" "0" "c.1748C>G" "" "p.(Ser583Trp)" "r.(?)" "" "" "" "" "" "-" "0000025474" "00000391" "00" "1682" "0" "1682" "0" "c.1682C>G" "" "p.(Ser561Trp)" "r.(?)" "" "" "" "" "" "-" "0000025475" "00000388" "00" "1817" "0" "1817" "0" "c.1817C>T" "" "p.(Ser606Leu)" "r.(?)" "" "" "" "" "" "-" "0000025475" "00000389" "00" "1520" "0" "1520" "0" "c.1520C>T" "" "p.(Ser507Leu)" "r.(?)" "" "" "" "" "" "-" "0000025475" "00000390" "00" "1748" "0" "1748" "0" "c.1748C>T" "" "p.(Ser583Leu)" "r.(?)" "" "" "" "" "" "-" "0000025475" "00000391" "00" "1682" "0" "1682" "0" "c.1682C>T" "" "p.(Ser561Leu)" "r.(?)" "" "" "" "" "" "-" "0000025476" "00000388" "00" "1820" "1" "1820" "1" "c.1820+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025476" "00000389" "00" "1523" "1" "1523" "1" "c.1523+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025476" "00000390" "00" "1751" "1" "1751" "1" "c.1751+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025476" "00000391" "00" "1685" "1" "1685" "1" "c.1685+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025477" "00000388" "00" "1820" "18" "1820" "18" "c.1820+18G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025477" "00000389" "00" "1523" "18" "1523" "18" "c.1523+18G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025477" "00000390" "00" "1751" "18" "1751" "18" "c.1751+18G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025477" "00000391" "00" "1685" "18" "1685" "18" "c.1685+18G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025478" "00000388" "00" "1820" "30" "1820" "30" "c.1820+30C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025478" "00000389" "00" "1523" "30" "1523" "30" "c.1523+30C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025478" "00000390" "00" "1751" "30" "1751" "30" "c.1751+30C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025478" "00000391" "00" "1685" "30" "1685" "30" "c.1685+30C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025479" "00000388" "00" "1820" "46" "1820" "46" "c.1820+46C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025479" "00000389" "00" "1523" "46" "1523" "46" "c.1523+46C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025479" "00000390" "00" "1751" "46" "1751" "46" "c.1751+46C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025479" "00000391" "00" "1685" "46" "1685" "46" "c.1685+46C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025480" "00000388" "00" "1821" "-36" "1821" "-36" "c.1821-36G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025480" "00000389" "00" "1524" "-36" "1524" "-36" "c.1524-36G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025480" "00000390" "00" "1752" "-36" "1752" "-36" "c.1752-36G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025480" "00000391" "00" "1686" "-36" "1686" "-36" "c.1686-36G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025481" "00000388" "00" "1821" "-33" "1821" "-33" "c.1821-33C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025481" "00000389" "00" "1524" "-33" "1524" "-33" "c.1524-33C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025481" "00000390" "00" "1752" "-33" "1752" "-33" "c.1752-33C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025481" "00000391" "00" "1686" "-33" "1686" "-33" "c.1686-33C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025482" "00000388" "00" "1821" "-32" "1821" "-31" "c.1821-32_1821-31del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025482" "00000389" "00" "1524" "-32" "1524" "-31" "c.1524-32_1524-31del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025482" "00000390" "00" "1752" "-32" "1752" "-31" "c.1752-32_1752-31del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025482" "00000391" "00" "1686" "-32" "1686" "-31" "c.1686-32_1686-31del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025483" "00000388" "00" "1821" "-23" "1821" "-23" "c.1821-23T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025483" "00000389" "00" "1524" "-23" "1524" "-23" "c.1524-23T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025483" "00000390" "00" "1752" "-23" "1752" "-23" "c.1752-23T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025483" "00000391" "00" "1686" "-23" "1686" "-23" "c.1686-23T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025484" "00000388" "00" "1835" "0" "1838" "0" "c.1835_1838del" "" "p.(Ser613Argfs*89)" "r.(?)" "" "" "" "" "" "-" "0000025484" "00000389" "00" "1538" "0" "1541" "0" "c.1538_1541del" "" "p.(Ser514Argfs*89)" "r.(?)" "" "" "" "" "" "-" "0000025484" "00000390" "00" "1766" "0" "1769" "0" "c.1766_1769del" "" "p.(Ser590Argfs*89)" "r.(?)" "" "" "" "" "" "-" "0000025484" "00000391" "00" "1700" "0" "1703" "0" "c.1700_1703del" "" "p.(Ser568Argfs*89)" "r.(?)" "" "" "" "" "" "-" "0000025485" "00000388" "00" "1835" "0" "1835" "0" "c.1835T>C" "" "p.(Leu612Pro)" "r.(?)" "" "" "" "" "" "-" "0000025485" "00000389" "00" "1538" "0" "1538" "0" "c.1538T>C" "" "p.(Leu513Pro)" "r.(?)" "" "" "" "" "" "-" "0000025485" "00000390" "00" "1766" "0" "1766" "0" "c.1766T>C" "" "p.(Leu589Pro)" "r.(?)" "" "" "" "" "" "-" "0000025485" "00000391" "00" "1700" "0" "1700" "0" "c.1700T>C" "" "p.(Leu567Pro)" "r.(?)" "" "" "" "" "" "-" "0000025486" "00000388" "00" "1873" "0" "1874" "0" "c.1873_1874del" "" "p.(Cys626*)" "r.(?)" "" "" "" "" "" "-" "0000025486" "00000389" "00" "1576" "0" "1577" "0" "c.1576_1577del" "" "p.(Cys527*)" "r.(?)" "" "" "" "" "" "-" "0000025486" "00000390" "00" "1804" "0" "1805" "0" "c.1804_1805del" "" "p.(Cys603*)" "r.(?)" "" "" "" "" "" "-" "0000025486" "00000391" "00" "1738" "0" "1739" "0" "c.1738_1739del" "" "p.(Cys581*)" "r.(?)" "" "" "" "" "" "-" "0000025487" "00000388" "00" "1894" "0" "1894" "0" "c.1894G>A" "" "p.(Glu632Lys)" "r.(?)" "" "" "" "" "" "-" "0000025487" "00000389" "00" "1597" "0" "1597" "0" "c.1597G>A" "" "p.(Glu533Lys)" "r.(?)" "" "" "" "" "" "-" "0000025487" "00000390" "00" "1825" "0" "1825" "0" "c.1825G>A" "" "p.(Glu609Lys)" "r.(?)" "" "" "" "" "" "-" "0000025487" "00000391" "00" "1759" "0" "1759" "0" "c.1759G>A" "" "p.(Glu587Lys)" "r.(?)" "" "" "" "" "" "-" "0000025488" "00000388" "00" "1933" "0" "1933" "0" "c.1933C>T" "" "p.(Gln645*)" "r.(?)" "" "" "" "" "" "-" "0000025488" "00000389" "00" "1636" "0" "1636" "0" "c.1636C>T" "" "p.(Gln546*)" "r.(?)" "" "" "" "" "" "-" "0000025488" "00000390" "00" "1864" "0" "1864" "0" "c.1864C>T" "" "p.(Gln622*)" "r.(?)" "" "" "" "" "" "-" "0000025488" "00000391" "00" "1798" "0" "1798" "0" "c.1798C>T" "" "p.(Gln600*)" "r.(?)" "" "" "" "" "" "-" "0000025489" "00000388" "00" "1976" "0" "1977" "0" "c.1976_1977insC" "" "p.(Ile660Hisfs*53)" "r.(?)" "" "" "" "" "" "-" "0000025489" "00000389" "00" "1679" "0" "1680" "0" "c.1679_1680insC" "" "p.(Ile561Hisfs*53)" "r.(?)" "" "" "" "" "" "-" "0000025489" "00000390" "00" "1907" "0" "1908" "0" "c.1907_1908insC" "" "p.(Ile637Hisfs*53)" "r.(?)" "" "" "" "" "" "-" "0000025489" "00000391" "00" "1841" "0" "1842" "0" "c.1841_1842insC" "" "p.(Ile615Hisfs*53)" "r.(?)" "" "" "" "" "" "-" "0000025490" "00000388" "00" "1992" "0" "1992" "0" "c.1992G>C" "" "p.(Leu664Phe)" "r.(?)" "" "" "" "" "" "-" "0000025490" "00000389" "00" "1695" "0" "1695" "0" "c.1695G>C" "" "p.(Leu565Phe)" "r.(?)" "" "" "" "" "" "-" "0000025490" "00000390" "00" "1923" "0" "1923" "0" "c.1923G>C" "" "p.(Leu641Phe)" "r.(?)" "" "" "" "" "" "-" "0000025490" "00000391" "00" "1857" "0" "1857" "0" "c.1857G>C" "" "p.(Leu619Phe)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0