### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LIAS) # 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}}" "LIAS" "lipoic acid synthetase" "4" "p14" "unknown" "NC_000004.11" "UD_138306200971" "" "" "" "1" "1" "16429" "11019" "607031" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:44:12" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "{{chrom}}" "00000163" "LIAS" "transcript variant 1" "001" "NM_006859.3" "" "NP_006850.2" "" "" "" "-94" "1657" "1119" "39460644" "39479273" "00001" "2013-11-07 13:50:17" "" "" "" "4" "00000164" "LIAS" "transcript variant 2" "002" "NM_194451.2" "" "NP_919433.1" "" "" "" "-94" "1545" "969" "39460644" "39479273" "00001" "2013-11-07 13:50:17" "" "" "" "4" "00000165" "LIAS" "transcript variant 3" "003" "NM_001278590.1" "" "NP_001265519.1" "" "" "" "-94" "1528" "990" "39460644" "39479273" "00001" "2013-11-07 13:50:17" "" "" "" "4" "00000166" "LIAS" "transcript variant 4" "004" "NM_001278591.1" "" "NP_001265520.1" "" "" "" "-94" "602" "429" "39460644" "39465434" "00001" "2013-11-07 13:50:17" "" "" "" "4" "00000167" "LIAS" "transcript variant 5" "005" "NM_001278592.1" "" "NP_001265521.1" "" "" "" "-94" "508" "303" "39460644" "39465434" "00001" "2013-11-07 13:50:17" "" "" "" "4" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00479" "PDHLD" "PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY; PDHLD" "614462" "" "" "" "00001" "2014-04-10 17:30:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LIAS" "00479" ## 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 = 50 "{{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}}" "0000000996" "0" "99" "4" "39471647" "39471647" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-03-10 00:38:30" "LIAS_000001" "g.39471647G>A" "" "{PMID:22152680:22152680}" "" "rs144133667" "subst" "0" "; clinvar; ensembl;" "5.000" "" "" "" "" "MSCV_0000996" "" "0000020637" "0" "33" "4" "39460744" "39460744" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:17:53" "LIAS_000023" "g.39460744C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020637" "" "0000020638" "0" "55" "4" "39460766" "39460766" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:17:58" "LIAS_000024" "g.39460766G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020638" "" "0000020639" "0" "33" "4" "39460768" "39460768" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:18:02" "LIAS_000025" "g.39460768A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020639" "" "0000020640" "0" "11" "4" "39462421" "39462421" "subst" "35" "0.00376749" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:18:07" "LIAS_000026" "g.39462421A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020640" "" "0000020641" "0" "33" "4" "39462423" "39462424" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:18:12" "LIAS_000027" "g.39462423_39462424insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020641" "" "0000020642" "0" "33" "4" "39462424" "39462424" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:18:17" "LIAS_000028" "g.39462424T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020642" "" "0000020643" "0" "55" "4" "39462474" "39462474" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:18:59" "LIAS_000029" "g.39462474A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020643" "" "0000020644" "0" "33" "4" "39462478" "39462478" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:19:03" "LIAS_000030" "g.39462478C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020644" "" "0000020645" "0" "55" "4" "39462484" "39462484" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:19:08" "LIAS_000031" "g.39462484G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020645" "" "0000020646" "0" "55" "4" "39462486" "39462486" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:04:50" "LIAS_000019" "g.39462486A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020646" "" "0000020647" "0" "33" "4" "39462493" "39462493" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:04:55" "LIAS_000020" "g.39462493A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020647" "" "0000020648" "0" "55" "4" "39462537" "39462537" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:04:59" "LIAS_000021" "g.39462537C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020648" "" "0000020649" "0" "55" "4" "39462582" "39462582" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:05:03" "LIAS_000022" "g.39462582G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020649" "" "0000020650" "0" "11" "4" "39463903" "39463903" "subst" "35" "0.0254694" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:31" "LIAS_000002" "g.39463903C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020650" "" "0000020651" "0" "55" "4" "39465163" "39465163" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:36" "LIAS_000003" "g.39465163T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020651" "" "0000020652" "0" "99" "4" "39465195" "39465195" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-06 04:56:53" "LIAS_000004" "g.39465195del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020652" "" "0000020653" "0" "77" "4" "39465229" "39465229" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:45" "LIAS_000005" "g.39465229G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020653" "" "0000020654" "0" "11" "4" "39465233" "39465233" "subst" "51" "0.0012302" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-06 04:56:53" "LIAS_000006" "g.39465233C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020654" "" "0000020655" "0" "11" "4" "39465235" "39465235" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:54" "LIAS_000007" "g.39465235G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020655" "" "0000020656" "0" "55" "4" "39466745" "39466745" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:58" "LIAS_000008" "g.39466745G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020656" "" "0000020657" "0" "99" "4" "39466747" "39466749" "delins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:02" "LIAS_000009" "g.39466747_39466749delinsAAA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020657" "" "0000020658" "0" "33" "4" "39466801" "39466801" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:07" "LIAS_000010" "g.39466801C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020658" "" "0000020659" "0" "00" "4" "39466904" "39466912" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:12" "LIAS_000011" "g.39466904_39466912del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020659" "" "0000020660" "0" "55" "4" "39466946" "39466946" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:17" "LIAS_000012" "g.39466946T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020660" "" "0000020661" "0" "99" "4" "39469174" "39469174" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:21" "LIAS_000013" "g.39469174T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020661" "" "0000020662" "0" "55" "4" "39469212" "39469212" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:26" "LIAS_000014" "g.39469212T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020662" "" "0000020663" "0" "11" "4" "39469255" "39469255" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:31" "LIAS_000015" "g.39469255G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020663" "" "0000020664" "0" "33" "4" "39469275" "39469275" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-06 04:56:53" "LIAS_000016" "g.39469275G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020664" "" "0000020665" "0" "99" "4" "39471647" "39471647" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:39" "LIAS_000001" "g.39471647G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000996" "" "0000020666" "0" "77" "4" "39471750" "39471750" "subst" "35" "0.00215285" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:42" "LIAS_000017" "g.39471750C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020666" "" "0000020667" "0" "55" "4" "39472916" "39472916" "subst" "35" "0.000461326" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:46" "LIAS_000018" "g.39472916G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020667" "" "0000026194" "0" "00" "4" "39460772" "39460772" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:10:34" "LIAS_000049" "g.39460772T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026195" "0" "00" "4" "39460774" "39460774" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:43:02" "LIAS_000048" "g.39460774G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026196" "0" "00" "4" "39462444" "39462444" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-05-29 15:09:43" "LIAS_000046" "g.39462444C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026197" "0" "00" "4" "39462504" "39462504" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:44:31" "LIAS_000047" "g.39462504A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026198" "0" "00" "4" "39463841" "39463841" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:13:49" "LIAS_000039" "g.39463841A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026199" "0" "00" "4" "39463889" "39463889" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:14:08" "LIAS_000040" "g.39463889C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026200" "0" "00" "4" "39466675" "39466675" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:14:40" "LIAS_000041" "g.39466675G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026201" "0" "00" "4" "39466826" "39466826" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:15:03" "LIAS_000042" "g.39466826A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026202" "0" "00" "4" "39466917" "39466917" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:15:23" "LIAS_000043" "g.39466917G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026203" "0" "00" "4" "39469172" "39469172" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:15:44" "LIAS_000044" "g.39469172G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026204" "0" "00" "4" "39469179" "39469179" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:16:05" "LIAS_000045" "g.39469179G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026205" "0" "00" "4" "39469186" "39469186" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:39:51" "LIAS_000032" "g.39469186T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026206" "0" "00" "4" "39469254" "39469254" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:10" "LIAS_000033" "g.39469254C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026207" "0" "00" "4" "39469267" "39469267" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:30" "LIAS_000034" "g.39469267G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026208" "0" "00" "4" "39471652" "39471652" "subst" "51" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-06-03 01:47:43" "LIAS_000035" "g.39471652C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026209" "0" "00" "4" "39471698" "39471698" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:41:00" "LIAS_000036" "g.39471698A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026210" "0" "00" "4" "39472862" "39472862" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:41:15" "LIAS_000037" "g.39472862G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026211" "0" "00" "4" "39478718" "39478722" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:41:31" "LIAS_000038" "g.39478718_39478722del" "" "" "" "" "" "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 = 234 "{{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}}" "0000000996" "00000163" "99" "746" "0" "746" "0" "c.746G>A" "8/11" "p.(Arg249His)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000996" "00000164" "99" "746" "0" "746" "0" "c.746G>A" "8/11" "p.(=)" "r.(=)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000996" "00000165" "99" "617" "0" "617" "0" "c.617G>A" "7/10" "p.(Arg206His)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000020637" "00000163" "00" "7" "0" "7" "0" "c.7C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020637" "00000164" "00" "7" "0" "7" "0" "c.7C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020637" "00000165" "00" "7" "0" "7" "0" "c.7C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020637" "00000166" "00" "7" "0" "7" "0" "c.7C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020637" "00000167" "00" "7" "0" "7" "0" "c.7C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020638" "00000163" "00" "29" "0" "29" "0" "c.29G>A" "" "p.(Arg10His)" "r.(?)" "" "" "" "" "" "-" "0000020638" "00000164" "00" "29" "0" "29" "0" "c.29G>A" "" "p.(Arg10His)" "r.(?)" "" "" "" "" "" "-" "0000020638" "00000165" "00" "29" "0" "29" "0" "c.29G>A" "" "p.(Arg10His)" "r.(?)" "" "" "" "" "" "-" "0000020638" "00000166" "00" "29" "0" "29" "0" "c.29G>A" "" "p.(Arg10His)" "r.(?)" "" "" "" "" "" "-" "0000020638" "00000167" "00" "29" "0" "29" "0" "c.29G>A" "" "p.(Arg10His)" "r.(?)" "" "" "" "" "" "-" "0000020639" "00000163" "00" "31" "0" "31" "0" "c.31A>T" "" "p.(Thr11Ser)" "r.(?)" "" "" "" "" "" "-" "0000020639" "00000164" "00" "31" "0" "31" "0" "c.31A>T" "" "p.(Thr11Ser)" "r.(?)" "" "" "" "" "" "-" "0000020639" "00000165" "00" "31" "0" "31" "0" "c.31A>T" "" "p.(Thr11Ser)" "r.(?)" "" "" "" "" "" "-" "0000020639" "00000166" "00" "31" "0" "31" "0" "c.31A>T" "" "p.(Thr11Ser)" "r.(?)" "" "" "" "" "" "-" "0000020639" "00000167" "00" "31" "0" "31" "0" "c.31A>T" "" "p.(Thr11Ser)" "r.(?)" "" "" "" "" "" "-" "0000020640" "00000163" "00" "57" "0" "57" "0" "c.57A>C" "" "p.(Arg19Ser)" "r.(?)" "" "" "" "" "" "-" "0000020640" "00000164" "00" "57" "0" "57" "0" "c.57A>C" "" "p.(Arg19Ser)" "r.(?)" "" "" "" "" "" "-" "0000020640" "00000165" "00" "57" "0" "57" "0" "c.57A>C" "" "p.(Arg19Ser)" "r.(?)" "" "" "" "" "" "-" "0000020640" "00000166" "00" "57" "0" "57" "0" "c.57A>C" "" "p.(Arg19Ser)" "r.(?)" "" "" "" "" "" "-" "0000020640" "00000167" "00" "57" "0" "57" "0" "c.57A>C" "" "p.(Arg19Ser)" "r.(?)" "" "" "" "" "" "-" "0000020641" "00000163" "00" "59" "0" "60" "0" "c.59_60insT" "" "p.(Cys22Leufs*13)" "r.(?)" "" "" "" "" "" "-" "0000020641" "00000164" "00" "59" "0" "60" "0" "c.59_60insT" "" "p.(Cys22Leufs*13)" "r.(?)" "" "" "" "" "" "-" "0000020641" "00000165" "00" "59" "0" "60" "0" "c.59_60insT" "" "p.(Cys22Leufs*13)" "r.(?)" "" "" "" "" "" "-" "0000020641" "00000166" "00" "59" "0" "60" "0" "c.59_60insT" "" "p.(Cys22Leufs*13)" "r.(?)" "" "" "" "" "" "-" "0000020641" "00000167" "00" "59" "0" "60" "0" "c.59_60insT" "" "p.(Cys22Leufs*13)" "r.(?)" "" "" "" "" "" "-" "0000020642" "00000163" "00" "60" "0" "60" "0" "c.60T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020642" "00000164" "00" "60" "0" "60" "0" "c.60T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020642" "00000165" "00" "60" "0" "60" "0" "c.60T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020642" "00000166" "00" "60" "0" "60" "0" "c.60T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020642" "00000167" "00" "60" "0" "60" "0" "c.60T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020643" "00000163" "00" "110" "0" "110" "0" "c.110A>T" "" "p.(Glu37Val)" "r.(?)" "" "" "" "" "" "-" "0000020643" "00000164" "00" "110" "0" "110" "0" "c.110A>T" "" "p.(Glu37Val)" "r.(?)" "" "" "" "" "" "-" "0000020643" "00000165" "00" "110" "0" "110" "0" "c.110A>T" "" "p.(Glu37Val)" "r.(?)" "" "" "" "" "" "-" "0000020643" "00000166" "00" "110" "0" "110" "0" "c.110A>T" "" "p.(Glu37Val)" "r.(?)" "" "" "" "" "" "-" "0000020643" "00000167" "00" "110" "0" "110" "0" "c.110A>T" "" "p.(Glu37Val)" "r.(?)" "" "" "" "" "" "-" "0000020644" "00000163" "00" "114" "0" "114" "0" "c.114C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020644" "00000164" "00" "114" "0" "114" "0" "c.114C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020644" "00000165" "00" "114" "0" "114" "0" "c.114C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020644" "00000166" "00" "114" "0" "114" "0" "c.114C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020644" "00000167" "00" "114" "0" "114" "0" "c.114C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020645" "00000163" "00" "120" "0" "120" "0" "c.120G>T" "" "p.(Gln40His)" "r.(?)" "" "" "" "" "" "-" "0000020645" "00000164" "00" "120" "0" "120" "0" "c.120G>T" "" "p.(Gln40His)" "r.(?)" "" "" "" "" "" "-" "0000020645" "00000165" "00" "120" "0" "120" "0" "c.120G>T" "" "p.(Gln40His)" "r.(?)" "" "" "" "" "" "-" "0000020645" "00000166" "00" "120" "0" "120" "0" "c.120G>T" "" "p.(Gln40His)" "r.(?)" "" "" "" "" "" "-" "0000020645" "00000167" "00" "120" "0" "120" "0" "c.120G>T" "" "p.(Gln40His)" "r.(?)" "" "" "" "" "" "-" "0000020646" "00000163" "00" "122" "0" "122" "0" "c.122A>G" "" "p.(Asn41Ser)" "r.(?)" "" "" "" "" "" "-" "0000020646" "00000164" "00" "122" "0" "122" "0" "c.122A>G" "" "p.(Asn41Ser)" "r.(?)" "" "" "" "" "" "-" "0000020646" "00000165" "00" "122" "0" "122" "0" "c.122A>G" "" "p.(Asn41Ser)" "r.(?)" "" "" "" "" "" "-" "0000020646" "00000166" "00" "122" "0" "122" "0" "c.122A>G" "" "p.(Asn41Ser)" "r.(?)" "" "" "" "" "" "-" "0000020646" "00000167" "00" "122" "0" "122" "0" "c.122A>G" "" "p.(Asn41Ser)" "r.(?)" "" "" "" "" "" "-" "0000020647" "00000163" "00" "129" "0" "129" "0" "c.129A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020647" "00000164" "00" "129" "0" "129" "0" "c.129A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020647" "00000165" "00" "129" "0" "129" "0" "c.129A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020647" "00000166" "00" "129" "0" "129" "0" "c.129A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020647" "00000167" "00" "129" "0" "129" "0" "c.129A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020648" "00000163" "00" "173" "0" "173" "0" "c.173C>T" "" "p.(Thr58Ile)" "r.(?)" "" "" "" "" "" "-" "0000020648" "00000164" "00" "173" "0" "173" "0" "c.173C>T" "" "p.(Thr58Ile)" "r.(?)" "" "" "" "" "" "-" "0000020648" "00000165" "00" "173" "0" "173" "0" "c.173C>T" "" "p.(Thr58Ile)" "r.(?)" "" "" "" "" "" "-" "0000020648" "00000166" "00" "173" "0" "173" "0" "c.173C>T" "" "p.(Thr58Ile)" "r.(?)" "" "" "" "" "" "-" "0000020648" "00000167" "00" "173" "0" "173" "0" "c.173C>T" "" "p.(Thr58Ile)" "r.(?)" "" "" "" "" "" "-" "0000020649" "00000163" "00" "218" "0" "218" "0" "c.218G>C" "" "p.(Arg73Thr)" "r.(?)" "" "" "" "" "" "-" "0000020649" "00000164" "00" "218" "0" "218" "0" "c.218G>C" "" "p.(Arg73Thr)" "r.(?)" "" "" "" "" "" "-" "0000020649" "00000165" "00" "218" "0" "218" "0" "c.218G>C" "" "p.(Arg73Thr)" "r.(?)" "" "" "" "" "" "-" "0000020649" "00000166" "00" "218" "0" "218" "0" "c.218G>C" "" "p.(Arg73Thr)" "r.(?)" "" "" "" "" "" "-" "0000020649" "00000167" "00" "218" "0" "218" "0" "c.218G>C" "" "p.(Arg73Thr)" "r.(?)" "" "" "" "" "" "-" "0000020650" "00000163" "00" "306" "0" "306" "0" "c.306C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020650" "00000164" "00" "306" "0" "306" "0" "c.306C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020650" "00000165" "00" "306" "0" "306" "0" "c.306C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020650" "00000166" "00" "306" "0" "306" "0" "c.306C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020650" "00000167" "00" "219" "-1242" "219" "-1242" "c.219-1242C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020651" "00000163" "00" "331" "0" "331" "0" "c.331T>A" "" "p.(Cys111Ser)" "r.(?)" "" "" "" "" "" "-" "0000020651" "00000164" "00" "331" "0" "331" "0" "c.331T>A" "" "p.(Cys111Ser)" "r.(?)" "" "" "" "" "" "-" "0000020651" "00000165" "00" "331" "0" "331" "0" "c.331T>A" "" "p.(Cys111Ser)" "r.(?)" "" "" "" "" "" "-" "0000020651" "00000166" "00" "331" "0" "331" "0" "c.331T>A" "" "p.(Cys111Ser)" "r.(?)" "" "" "" "" "" "-" "0000020651" "00000167" "00" "237" "0" "237" "0" "c.237T>A" "" "p.(Asp79Glu)" "r.(?)" "" "" "" "" "" "-" "0000020652" "00000163" "00" "363" "0" "363" "0" "c.363del" "" "p.(Glu122Asnfs*11)" "r.(?)" "" "" "" "" "" "-" "0000020652" "00000164" "00" "363" "0" "363" "0" "c.363del" "" "p.(Glu122Asnfs*11)" "r.(?)" "" "" "" "" "" "-" "0000020652" "00000165" "00" "363" "0" "363" "0" "c.363del" "" "p.(Glu122Asnfs*11)" "r.(?)" "" "" "" "" "" "-" "0000020652" "00000166" "00" "363" "0" "363" "0" "c.363del" "" "p.(Glu122Asnfs*11)" "r.(?)" "" "" "" "" "" "-" "0000020652" "00000167" "00" "269" "0" "269" "0" "c.269del" "" "p.(Glu90Glyfs*34)" "r.(?)" "" "" "" "" "" "-" "0000020653" "00000163" "00" "393" "4" "393" "4" "c.393+4G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020653" "00000164" "00" "393" "4" "393" "4" "c.393+4G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020653" "00000165" "00" "393" "4" "393" "4" "c.393+4G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020653" "00000166" "00" "397" "0" "397" "0" "c.397G>A" "" "p.(Gly133Arg)" "r.(?)" "" "" "" "" "" "-" "0000020653" "00000167" "00" "303" "0" "303" "0" "c.303G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020654" "00000163" "00" "393" "8" "393" "8" "c.393+8C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020654" "00000164" "00" "393" "8" "393" "8" "c.393+8C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020654" "00000165" "00" "393" "8" "393" "8" "c.393+8C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020654" "00000166" "00" "401" "0" "401" "0" "c.401C>A" "" "p.(Pro134Gln)" "r.(?)" "" "" "" "" "" "-" "0000020654" "00000167" "00" "307" "0" "307" "0" "c.*4C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020655" "00000163" "00" "393" "10" "393" "10" "c.393+10G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020655" "00000164" "00" "393" "10" "393" "10" "c.393+10G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020655" "00000165" "00" "393" "10" "393" "10" "c.393+10G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020655" "00000166" "00" "403" "0" "403" "0" "c.403G>A" "" "p.(Ala135Thr)" "r.(?)" "" "" "" "" "" "-" "0000020655" "00000167" "00" "309" "0" "309" "0" "c.*6G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020656" "00000163" "00" "473" "0" "473" "0" "c.473G>C" "" "p.(Ser158Thr)" "r.(?)" "" "" "" "" "" "-" "0000020656" "00000164" "00" "473" "0" "473" "0" "c.473G>C" "" "p.(Ser158Thr)" "r.(?)" "" "" "" "" "" "-" "0000020656" "00000165" "00" "473" "0" "473" "0" "c.473G>C" "" "p.(Ser158Thr)" "r.(?)" "" "" "" "" "" "-" "0000020656" "00000166" "00" "602" "1311" "602" "1311" "c.*1484G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020656" "00000167" "00" "508" "1311" "508" "1311" "c.*1516G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020657" "00000163" "00" "475" "0" "477" "0" "c.475_477delinsAAA" "" "p.(Glu159Lys)" "r.(?)" "" "" "" "" "" "-" "0000020657" "00000164" "00" "475" "0" "477" "0" "c.475_477delinsAAA" "" "p.(Glu159Lys)" "r.(?)" "" "" "" "" "" "-" "0000020657" "00000165" "00" "475" "0" "477" "0" "c.475_477delinsAAA" "" "p.(Glu159Lys)" "r.(?)" "" "" "" "" "" "-" "0000020657" "00000166" "00" "602" "1313" "602" "1315" "c.*1486_*1488delinsAAA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020657" "00000167" "00" "508" "1313" "508" "1315" "c.*1518_*1520delinsAAA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020658" "00000163" "00" "529" "0" "529" "0" "c.529C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020658" "00000164" "00" "529" "0" "529" "0" "c.529C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020658" "00000165" "00" "529" "0" "529" "0" "c.529C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020658" "00000166" "00" "602" "1367" "602" "1367" "c.*1540C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020658" "00000167" "00" "508" "1367" "508" "1367" "c.*1572C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020659" "00000163" "00" "551" "-1" "558" "0" "c.551-1_558del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000020659" "00000164" "00" "551" "-1" "558" "0" "c.551-1_558del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000020659" "00000165" "00" "551" "-1" "558" "0" "c.551-1_558del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000020659" "00000166" "00" "602" "1470" "602" "1478" "c.*1643_*1651del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020659" "00000167" "00" "508" "1470" "508" "1478" "c.*1675_*1683del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020660" "00000163" "00" "592" "0" "592" "0" "c.592T>A" "" "p.(Ser198Thr)" "r.(?)" "" "" "" "" "" "-" "0000020660" "00000164" "00" "592" "0" "592" "0" "c.592T>A" "" "p.(Ser198Thr)" "r.(?)" "" "" "" "" "" "-" "0000020660" "00000165" "00" "592" "0" "592" "0" "c.592T>A" "" "p.(Ser198Thr)" "r.(?)" "" "" "" "" "" "-" "0000020660" "00000166" "00" "602" "1512" "602" "1512" "c.*1685T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020660" "00000167" "00" "508" "1512" "508" "1512" "c.*1717T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020661" "00000163" "00" "645" "0" "645" "0" "c.645T>A" "" "p.(Asp215Glu)" "r.(?)" "" "" "" "" "" "-" "0000020661" "00000164" "00" "645" "0" "645" "0" "c.645T>A" "" "p.(Asp215Glu)" "r.(?)" "" "" "" "" "" "-" "0000020661" "00000165" "00" "608" "2212" "608" "2212" "c.608+2212T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020661" "00000166" "00" "602" "3740" "602" "3740" "c.*3913T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020661" "00000167" "00" "508" "3740" "508" "3740" "c.*3945T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020662" "00000163" "00" "683" "0" "683" "0" "c.683T>C" "" "p.(Leu228Pro)" "r.(?)" "" "" "" "" "" "-" "0000020662" "00000164" "00" "683" "0" "683" "0" "c.683T>C" "" "p.(Leu228Pro)" "r.(?)" "" "" "" "" "" "-" "0000020662" "00000165" "00" "608" "2250" "608" "2250" "c.608+2250T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020662" "00000166" "00" "602" "3778" "602" "3778" "c.*3951T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020662" "00000167" "00" "508" "3778" "508" "3778" "c.*3983T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020663" "00000163" "00" "726" "0" "726" "0" "c.726G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020663" "00000164" "00" "726" "0" "726" "0" "c.726G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020663" "00000165" "00" "608" "2293" "608" "2293" "c.608+2293G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020663" "00000166" "00" "602" "3821" "602" "3821" "c.*3994G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020663" "00000167" "00" "508" "3821" "508" "3821" "c.*4026G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020664" "00000163" "00" "737" "9" "737" "9" "c.737+9G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020664" "00000164" "00" "737" "9" "737" "9" "c.737+9G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020664" "00000165" "00" "608" "2313" "608" "2313" "c.608+2313G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020664" "00000166" "00" "602" "3841" "602" "3841" "c.*4014G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020664" "00000167" "00" "508" "3841" "508" "3841" "c.*4046G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020665" "00000163" "00" "746" "0" "746" "0" "c.746G>A" "" "p.(Arg249His)" "r.(?)" "" "" "" "" "" "-" "0000020665" "00000164" "00" "746" "0" "746" "0" "c.746G>A" "" "p.(Arg249His)" "r.(?)" "" "" "" "" "" "-" "0000020665" "00000165" "00" "617" "0" "617" "0" "c.617G>A" "" "p.(Arg206His)" "r.(?)" "" "" "" "" "" "-" "0000020666" "00000163" "00" "849" "0" "849" "0" "c.849C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020666" "00000164" "00" "849" "0" "849" "0" "c.849C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020666" "00000165" "00" "720" "0" "720" "0" "c.720C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020667" "00000163" "00" "944" "0" "944" "0" "c.944G>A" "" "p.(Arg315His)" "r.(?)" "" "" "" "" "" "-" "0000020667" "00000164" "00" "944" "0" "944" "0" "c.944G>A" "" "p.(Arg315His)" "r.(?)" "" "" "" "" "" "-" "0000020667" "00000165" "00" "815" "0" "815" "0" "c.815G>A" "" "p.(Arg272His)" "r.(?)" "" "" "" "" "" "-" "0000026194" "00000163" "00" "35" "0" "35" "0" "c.35T>A" "" "p.(Leu12Gln)" "r.(?)" "" "" "" "" "" "-" "0000026194" "00000164" "00" "35" "0" "35" "0" "c.35T>A" "" "p.(Leu12Gln)" "r.(?)" "" "" "" "" "" "-" "0000026194" "00000165" "00" "35" "0" "35" "0" "c.35T>A" "" "p.(Leu12Gln)" "r.(?)" "" "" "" "" "" "-" "0000026194" "00000166" "00" "35" "0" "35" "0" "c.35T>A" "" "p.(Leu12Gln)" "r.(?)" "" "" "" "" "" "-" "0000026194" "00000167" "00" "35" "0" "35" "0" "c.35T>A" "" "p.(Leu12Gln)" "r.(?)" "" "" "" "" "" "-" "0000026195" "00000163" "00" "37" "0" "37" "0" "c.37G>A" "" "p.(Gly13Arg)" "r.(?)" "" "" "" "" "" "-" "0000026195" "00000164" "00" "37" "0" "37" "0" "c.37G>A" "" "p.(Gly13Arg)" "r.(?)" "" "" "" "" "" "-" "0000026195" "00000165" "00" "37" "0" "37" "0" "c.37G>A" "" "p.(Gly13Arg)" "r.(?)" "" "" "" "" "" "-" "0000026195" "00000166" "00" "37" "0" "37" "0" "c.37G>A" "" "p.(Gly13Arg)" "r.(?)" "" "" "" "" "" "-" "0000026195" "00000167" "00" "37" "0" "37" "0" "c.37G>A" "" "p.(Gly13Arg)" "r.(?)" "" "" "" "" "" "-" "0000026196" "00000163" "00" "80" "0" "80" "0" "c.80C>T" "" "p.(Pro27Leu)" "r.(?)" "" "" "" "" "" "-" "0000026196" "00000164" "00" "80" "0" "80" "0" "c.80C>T" "" "p.(Pro27Leu)" "r.(?)" "" "" "" "" "" "-" "0000026196" "00000165" "00" "80" "0" "80" "0" "c.80C>T" "" "p.(Pro27Leu)" "r.(?)" "" "" "" "" "" "-" "0000026196" "00000166" "00" "80" "0" "80" "0" "c.80C>T" "" "p.(Pro27Leu)" "r.(?)" "" "" "" "" "" "-" "0000026196" "00000167" "00" "80" "0" "80" "0" "c.80C>T" "" "p.(Pro27Leu)" "r.(?)" "" "" "" "" "" "-" "0000026197" "00000163" "00" "140" "0" "140" "0" "c.140A>G" "" "p.(Asp47Gly)" "r.(?)" "" "" "" "" "" "-" "0000026197" "00000164" "00" "140" "0" "140" "0" "c.140A>G" "" "p.(Asp47Gly)" "r.(?)" "" "" "" "" "" "-" "0000026197" "00000165" "00" "140" "0" "140" "0" "c.140A>G" "" "p.(Asp47Gly)" "r.(?)" "" "" "" "" "" "-" "0000026197" "00000166" "00" "140" "0" "140" "0" "c.140A>G" "" "p.(Asp47Gly)" "r.(?)" "" "" "" "" "" "-" "0000026197" "00000167" "00" "140" "0" "140" "0" "c.140A>G" "" "p.(Asp47Gly)" "r.(?)" "" "" "" "" "" "-" "0000026198" "00000163" "00" "244" "0" "244" "0" "c.244A>G" "" "p.(Thr82Ala)" "r.(?)" "" "" "" "" "" "-" "0000026198" "00000164" "00" "244" "0" "244" "0" "c.244A>G" "" "p.(Thr82Ala)" "r.(?)" "" "" "" "" "" "-" "0000026198" "00000165" "00" "244" "0" "244" "0" "c.244A>G" "" "p.(Thr82Ala)" "r.(?)" "" "" "" "" "" "-" "0000026198" "00000166" "00" "244" "0" "244" "0" "c.244A>G" "" "p.(Thr82Ala)" "r.(?)" "" "" "" "" "" "-" "0000026198" "00000167" "00" "218" "1259" "218" "1259" "c.218+1259A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026199" "00000163" "00" "292" "0" "292" "0" "c.292C>T" "" "p.(Arg98Trp)" "r.(?)" "" "" "" "" "" "-" "0000026199" "00000164" "00" "292" "0" "292" "0" "c.292C>T" "" "p.(Arg98Trp)" "r.(?)" "" "" "" "" "" "-" "0000026199" "00000165" "00" "292" "0" "292" "0" "c.292C>T" "" "p.(Arg98Trp)" "r.(?)" "" "" "" "" "" "-" "0000026199" "00000166" "00" "292" "0" "292" "0" "c.292C>T" "" "p.(Arg98Trp)" "r.(?)" "" "" "" "" "" "-" "0000026199" "00000167" "00" "219" "-1256" "219" "-1256" "c.219-1256C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026200" "00000163" "00" "403" "0" "403" "0" "c.403G>C" "" "p.(Asp135His)" "r.(?)" "" "" "" "" "" "-" "0000026200" "00000164" "00" "403" "0" "403" "0" "c.403G>C" "" "p.(Asp135His)" "r.(?)" "" "" "" "" "" "-" "0000026200" "00000165" "00" "403" "0" "403" "0" "c.403G>C" "" "p.(Asp135His)" "r.(?)" "" "" "" "" "" "-" "0000026200" "00000166" "00" "602" "1241" "602" "1241" "c.*1414G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026200" "00000167" "00" "508" "1241" "508" "1241" "c.*1446G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026201" "00000163" "00" "550" "4" "550" "4" "c.550+4A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026201" "00000164" "00" "550" "4" "550" "4" "c.550+4A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026201" "00000165" "00" "550" "4" "550" "4" "c.550+4A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026201" "00000166" "00" "602" "1392" "602" "1392" "c.*1565A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026201" "00000167" "00" "508" "1392" "508" "1392" "c.*1597A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026202" "00000163" "00" "563" "0" "563" "0" "c.563G>C" "" "p.(Gly188Ala)" "r.(?)" "" "" "" "" "" "-" "0000026202" "00000164" "00" "563" "0" "563" "0" "c.563G>C" "" "p.(Gly188Ala)" "r.(?)" "" "" "" "" "" "-" "0000026202" "00000165" "00" "563" "0" "563" "0" "c.563G>C" "" "p.(Gly188Ala)" "r.(?)" "" "" "" "" "" "-" "0000026202" "00000166" "00" "602" "1483" "602" "1483" "c.*1656G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026202" "00000167" "00" "508" "1483" "508" "1483" "c.*1688G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026203" "00000163" "00" "643" "0" "643" "0" "c.643G>A" "" "p.(Asp215Asn)" "r.(?)" "" "" "" "" "" "-" "0000026203" "00000164" "00" "643" "0" "643" "0" "c.643G>A" "" "p.(Asp215Asn)" "r.(?)" "" "" "" "" "" "-" "0000026203" "00000165" "00" "608" "2210" "608" "2210" "c.608+2210G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026203" "00000166" "00" "602" "3738" "602" "3738" "c.*3911G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026203" "00000167" "00" "508" "3738" "508" "3738" "c.*3943G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026204" "00000163" "00" "650" "0" "650" "0" "c.650G>A" "" "p.(Arg217Gln)" "r.(?)" "" "" "" "" "" "-" "0000026204" "00000164" "00" "650" "0" "650" "0" "c.650G>A" "" "p.(Arg217Gln)" "r.(?)" "" "" "" "" "" "-" "0000026204" "00000165" "00" "608" "2217" "608" "2217" "c.608+2217G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026204" "00000166" "00" "602" "3745" "602" "3745" "c.*3918G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026204" "00000167" "00" "508" "3745" "508" "3745" "c.*3950G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026205" "00000163" "00" "657" "0" "657" "0" "c.657T>A" "" "p.(Asp219Glu)" "r.(?)" "" "" "" "" "" "-" "0000026205" "00000164" "00" "657" "0" "657" "0" "c.657T>A" "" "p.(Asp219Glu)" "r.(?)" "" "" "" "" "" "-" "0000026205" "00000165" "00" "608" "2224" "608" "2224" "c.608+2224T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026205" "00000166" "00" "602" "3752" "602" "3752" "c.*3925T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026205" "00000167" "00" "508" "3752" "508" "3752" "c.*3957T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026206" "00000163" "00" "725" "0" "725" "0" "c.725C>T" "" "p.(Pro242Leu)" "r.(?)" "" "" "" "" "" "-" "0000026206" "00000164" "00" "725" "0" "725" "0" "c.725C>T" "" "p.(Pro242Leu)" "r.(?)" "" "" "" "" "" "-" "0000026206" "00000165" "00" "608" "2292" "608" "2292" "c.608+2292C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026206" "00000166" "00" "602" "3820" "602" "3820" "c.*3993C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026206" "00000167" "00" "508" "3820" "508" "3820" "c.*4025C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026207" "00000163" "00" "737" "1" "737" "1" "c.737+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026207" "00000164" "00" "737" "1" "737" "1" "c.737+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026207" "00000165" "00" "608" "2305" "608" "2305" "c.608+2305G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026207" "00000166" "00" "602" "3833" "602" "3833" "c.*4006G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026207" "00000167" "00" "508" "3833" "508" "3833" "c.*4038G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026208" "00000163" "00" "751" "0" "751" "0" "c.751C>T" "" "p.(Pro251Ser)" "r.(?)" "" "" "" "" "" "-" "0000026208" "00000164" "00" "751" "0" "751" "0" "c.751C>T" "" "p.(Pro251Ser)" "r.(?)" "" "" "" "" "" "-" "0000026208" "00000165" "00" "622" "0" "622" "0" "c.622C>T" "" "p.(Pro208Ser)" "r.(?)" "" "" "" "" "" "-" "0000026209" "00000163" "00" "797" "0" "797" "0" "c.797A>G" "" "p.(Lys266Arg)" "r.(?)" "" "" "" "" "" "-" "0000026209" "00000164" "00" "797" "0" "797" "0" "c.797A>G" "" "p.(Lys266Arg)" "r.(?)" "" "" "" "" "" "-" "0000026209" "00000165" "00" "668" "0" "668" "0" "c.668A>G" "" "p.(Lys223Arg)" "r.(?)" "" "" "" "" "" "-" "0000026210" "00000163" "00" "890" "0" "890" "0" "c.890G>A" "" "p.(Arg297His)" "r.(?)" "" "" "" "" "" "-" "0000026210" "00000164" "00" "890" "0" "890" "0" "c.890G>A" "" "p.(Arg297His)" "r.(?)" "" "" "" "" "" "-" "0000026210" "00000165" "00" "761" "0" "761" "0" "c.761G>A" "" "p.(Arg254His)" "r.(?)" "" "" "" "" "" "-" "0000026211" "00000163" "00" "1102" "0" "1106" "0" "c.1102_1106del" "" "p.(Thr369Argfs*16)" "r.(?)" "" "" "" "" "" "-" "0000026211" "00000164" "00" "990" "0" "994" "0" "c.*21_*25del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026211" "00000165" "00" "973" "0" "977" "0" "c.973_977del" "" "p.(Thr326Argfs*16)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0