### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AMT) # 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}}" "AMT" "aminomethyltransferase" "3" "p21.2-p21.1" "unknown" "NC_000003.11" "UD_132118327928" "" "" "" "1" "1" "473" "275" "238310" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "{{chrom}}" "00000464" "AMT" "transcript variant 3" "001" "NM_001164711.1" "" "NP_001158183.1" "" "" "" "-228" "1806" "1044" "49460111" "49454211" "00001" "2013-11-12 21:28:47" "" "" "" "3" "00000465" "AMT" "transcript variant 5" "002" "NR_028435.1" "" "" "" "" "" "1" "2188" "2188" "49460111" "49454211" "00001" "2013-11-12 21:28:47" "" "" "" "3" "00000466" "AMT" "transcript variant 2" "003" "NM_001164710.1" "" "NP_001158182.1" "" "" "" "-228" "1842" "1080" "49460111" "49454211" "00001" "2013-11-12 21:28:47" "" "" "" "3" "00000467" "AMT" "transcript variant 4" "004" "NM_001164712.1" "" "NP_001158184.1" "" "" "" "-228" "1727" "1161" "49460111" "49454211" "00001" "2013-11-12 21:28:47" "" "" "" "3" "00000468" "AMT" "transcript variant 1" "005" "NM_000481.3" "" "NP_000472.2" "" "" "" "-228" "1974" "1212" "49460111" "49454211" "00001" "2013-11-12 21:28:47" "" "" "" "3" ## 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}}" "00499" "605899 GCE" "GLYCINE ENCEPHALOPATHY; GCE" "605899" "" "" "" "00001" "2016-07-07 10:51:02" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AMT" "00499" ## 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 = 102 "{{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}}" "0000020366" "0" "11" "3" "49454277" "49454277" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:09:11" "AMT_000062" "g.49454277G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020366" "" "0000020367" "0" "55" "3" "49454295" "49454295" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:09:16" "AMT_000063" "g.49454295G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020367" "" "0000020368" "0" "55" "3" "49454428" "49454428" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:09:20" "AMT_000064" "g.49454428G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020368" "" "0000020369" "0" "55" "3" "49454549" "49454549" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:43:03" "AMT_000001" "g.49454549C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020369" "" "0000020370" "0" "55" "3" "49454566" "49454566" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:43:17" "AMT_000002" "g.49454566A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020370" "" "0000020371" "0" "55" "3" "49454810" "49454810" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:44:04" "AMT_000003" "g.49454810C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020371" "" "0000020372" "0" "55" "3" "49454843" "49454843" "subst" "35" "0.00184466" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:44:41" "AMT_000004" "g.49454843C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020372" "" "0000020373" "0" "55" "3" "49454995" "49454995" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:44:52" "AMT_000005" "g.49454995G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020373" "" "0000020374" "0" "55" "3" "49455028" "49455028" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:02" "AMT_000006" "g.49455028A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020374" "" "0000020375" "0" "77" "3" "49455040" "49455040" "subst" "35" "0.00392127" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-11-11 04:38:59" "AMT_000007" "g.49455040C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020375" "" "0000020376" "0" "55" "3" "49455073" "49455073" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:23" "AMT_000008" "g.49455073C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020376" "" "0000020377" "0" "55" "3" "49455103" "49455103" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:33" "AMT_000009" "g.49455103G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020377" "" "0000020378" "0" "33" "3" "49455255" "49455255" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:41" "AMT_000010" "g.49455255C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020378" "" "0000020379" "0" "77" "3" "49455301" "49455302" "delins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:48" "AMT_000011" "g.49455301_49455302delinsA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020379" "" "0000020380" "0" "77" "3" "49455312" "49455314" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:54" "AMT_000012" "g.49455312_49455314del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020380" "" "0000020381" "0" "55" "3" "49455323" "49455323" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:01" "AMT_000013" "g.49455323C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020381" "" "0000020382" "0" "99" "3" "49455325" "49455325" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:07" "AMT_000014" "g.49455325C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020382" "" "0000020383" "0" "11" "3" "49455330" "49455330" "subst" "35" "0.288944" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:13" "AMT_000015" "g.49455330C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020383" "" "0000020384" "0" "77" "3" "49455386" "49455386" "subst" "35" "0.00422882" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:19" "AMT_000016" "g.49455386T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020384" "" "0000020385" "0" "55" "3" "49455397" "49455397" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:24" "AMT_000017" "g.49455397C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020385" "" "0000020386" "0" "99" "3" "49455407" "49455407" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-10 16:00:16" "AMT_000018" "g.49455407C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020386" "" "0000020387" "0" "99" "3" "49456411" "49456411" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-31 00:01:25" "AMT_000019" "g.49456411C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020387" "" "0000020388" "0" "55" "3" "49456423" "49456423" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:41" "AMT_000020" "g.49456423G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020388" "" "0000020389" "0" "99" "3" "49456455" "49456455" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:45" "AMT_000021" "g.49456455C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020389" "" "0000020390" "0" "55" "3" "49456456" "49456456" "subst" "35" "0.000384438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:46:57" "AMT_000022" "g.49456456A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020390" "" "0000020391" "0" "99" "3" "49456475" "49456475" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:47:02" "AMT_000023" "g.49456475C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020391" "" "0000020392" "0" "33" "3" "49456492" "49456492" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:47:06" "AMT_000024" "g.49456492G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020392" "" "0000020393" "0" "55" "3" "49456587" "49456587" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:47:10" "AMT_000025" "g.49456587G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020393" "" "0000020394" "0" "77" "3" "49456691" "49456691" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:09:25" "AMT_000065" "g.49456691A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020394" "" "0000020395" "0" "55" "3" "49456704" "49456704" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:09:29" "AMT_000066" "g.49456704C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020395" "" "0000020396" "0" "77" "3" "49456715" "49456715" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:54:25" "AMT_000051" "g.49456715T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020396" "" "0000020397" "0" "55" "3" "49456754" "49456754" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:54:29" "AMT_000052" "g.49456754A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020397" "" "0000020398" "0" "33" "3" "49456758" "49456758" "subst" "35" "0.00653545" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:54:34" "AMT_000053" "g.49456758C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020398" "" "0000020399" "0" "99" "3" "49456815" "49456815" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:54:38" "AMT_000054" "g.49456815G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020399" "" "0000020400" "0" "77" "3" "49457158" "49457158" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:54:42" "AMT_000055" "g.49457158del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020400" "" "0000020401" "0" "55" "3" "49457180" "49457180" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:54:47" "AMT_000056" "g.49457180G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020401" "" "0000020402" "0" "55" "3" "49457190" "49457190" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:54:52" "AMT_000057" "g.49457190C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020402" "" "0000020403" "0" "55" "3" "49457217" "49457217" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:54:56" "AMT_000058" "g.49457217T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020403" "" "0000020404" "0" "00" "3" "49457631" "49457632" "del" "35" "0.00662939" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:55:06" "AMT_000059" "g.49457631_49457632del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020404" "" "0000020405" "0" "99" "3" "49457642" "49457642" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:55:16" "AMT_000060" "g.49457642A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020405" "" "0000020406" "0" "77" "3" "49457649" "49457663" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:57:57" "AMT_000026" "g.49457649_49457663del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020406" "" "0000020407" "0" "55" "3" "49457679" "49457679" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:58:29" "AMT_000027" "g.49457679C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020407" "" "0000020408" "0" "77" "3" "49457681" "49457681" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:58:39" "AMT_000028" "g.49457681T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020408" "" "0000020409" "0" "11" "3" "49457761" "49457761" "subst" "35" "0.000461326" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:58:49" "AMT_000029" "g.49457761C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020409" "" "0000020410" "0" "99" "3" "49457765" "49457765" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:59:00" "AMT_000030" "g.49457765G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020410" "" "0000020411" "0" "77" "3" "49459006" "49459006" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:59:11" "AMT_000031" "g.49459006C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020411" "" "0000020412" "0" "77" "3" "49459565" "49459565" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:59:16" "AMT_000032" "g.49459565G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020412" "" "0000020413" "0" "55" "3" "49459578" "49459578" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:59:20" "AMT_000033" "g.49459578G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020413" "" "0000020414" "0" "55" "3" "49459600" "49459600" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:59:25" "AMT_000034" "g.49459600G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020414" "" "0000020415" "0" "55" "3" "49459642" "49459642" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:59:29" "AMT_000035" "g.49459642C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020415" "" "0000020416" "0" "55" "3" "49459643" "49459643" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:59:35" "AMT_000036" "g.49459643G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020416" "" "0000020417" "0" "77" "3" "49459647" "49459647" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:59:40" "AMT_000037" "g.49459647del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020417" "" "0000020418" "0" "77" "3" "49459656" "49459656" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:59:44" "AMT_000038" "g.49459656C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020418" "" "0000020419" "0" "77" "3" "49459656" "49459656" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:59:49" "AMT_000039" "g.49459656C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020419" "" "0000020420" "0" "99" "3" "49459670" "49459670" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:00:11" "AMT_000040" "g.49459670T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020420" "" "0000020421" "0" "11" "3" "49459694" "49459694" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:00:16" "AMT_000041" "g.49459694C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020421" "" "0000020422" "0" "33" "3" "49459713" "49459713" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:00:21" "AMT_000042" "g.49459713G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020422" "" "0000020423" "0" "55" "3" "49459800" "49459800" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:00:34" "AMT_000043" "g.49459800G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020423" "" "0000020424" "0" "77" "3" "49459821" "49459821" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:00:40" "AMT_000044" "g.49459821del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020424" "" "0000020425" "0" "77" "3" "49459823" "49459823" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:00:45" "AMT_000045" "g.49459823del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020425" "" "0000020426" "0" "77" "3" "49459825" "49459825" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:00:50" "AMT_000046" "g.49459825del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020426" "" "0000020427" "0" "77" "3" "49459938" "49459938" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:00:56" "AMT_000047" "g.49459938G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020427" "" "0000020428" "0" "55" "3" "49459959" "49459959" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:01" "AMT_000048" "g.49459959C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020428" "" "0000020429" "0" "00" "3" "49459999" "49460000" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:13" "AMT_000049" "g.49459999_49460000insG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020429" "" "0000020430" "0" "55" "3" "49460019" "49460019" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:23" "AMT_000050" "g.49460019A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020430" "" "0000020431" "0" "55" "3" "49460089" "49460089" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:55:22" "AMT_000061" "g.49460089C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020431" "" "0000026067" "0" "00" "3" "49454887" "49454887" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:28:23" "AMT_000098" "g.49454887C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026068" "0" "00" "3" "49454976" "49454976" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:28:51" "AMT_000099" "g.49454976del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026069" "0" "00" "3" "49454983" "49454986" "delins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:29:17" "AMT_000100" "g.49454983_49454986delinsATA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026070" "0" "00" "3" "49455030" "49455032" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:29:45" "AMT_000101" "g.49455030_49455032del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026071" "0" "00" "3" "49455032" "49455032" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:30:13" "AMT_000102" "g.49455032G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026072" "0" "00" "3" "49455098" "49455098" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 00:51:16" "AMT_000092" "g.49455098C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026073" "0" "00" "3" "49455150" "49455151" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:43:40" "AMT_000067" "g.49455150_49455151insC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026074" "0" "00" "3" "49455248" "49455249" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:44:10" "AMT_000068" "g.49455248_49455249insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026075" "0" "00" "3" "49455249" "49455249" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:44:28" "AMT_000069" "g.49455249A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026076" "0" "00" "3" "49455301" "49455302" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:45:18" "AMT_000070" "g.49455301_49455302insC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026077" "0" "00" "3" "49455302" "49455302" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:45:36" "AMT_000071" "g.49455302del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026078" "0" "00" "3" "49455326" "49455326" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:45:54" "AMT_000072" "g.49455326G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026079" "0" "00" "3" "49456406" "49456406" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:46:11" "AMT_000073" "g.49456406del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026080" "0" "00" "3" "49456431" "49456432" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:46:29" "AMT_000074" "g.49456431_49456432insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026081" "0" "00" "3" "49456487" "49456487" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:46:47" "AMT_000075" "g.49456487C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026082" "0" "00" "3" "49456488" "49456488" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:47:04" "AMT_000076" "g.49456488G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026083" "0" "00" "3" "49456529" "49456529" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:47:22" "AMT_000077" "g.49456529G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026084" "0" "00" "3" "49456570" "49456571" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:47:40" "AMT_000078" "g.49456570_49456571insACCGGC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026085" "0" "00" "3" "49456672" "49456694" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:47:58" "AMT_000079" "g.49456672_49456694del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026086" "0" "00" "3" "49456692" "49456692" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:48:16" "AMT_000080" "g.49456692C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026087" "0" "00" "3" "49456725" "49456725" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:48:34" "AMT_000081" "g.49456725G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026088" "0" "00" "3" "49456834" "49456834" "subst" "35" "0.000230698" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:48:52" "AMT_000082" "g.49456834G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026089" "0" "00" "3" "49457178" "49457178" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:49:10" "AMT_000083" "g.49457178A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026090" "0" "00" "3" "49457197" "49457197" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:49:28" "AMT_000084" "g.49457197G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026091" "0" "00" "3" "49457766" "49457767" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:49:52" "AMT_000085" "g.49457766_49457767del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026092" "0" "00" "3" "49458984" "49458984" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:50:17" "AMT_000086" "g.49458984G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026093" "0" "00" "3" "49459564" "49459564" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:50:34" "AMT_000087" "g.49459564C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026094" "0" "00" "3" "49459583" "49459583" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:50:52" "AMT_000088" "g.49459583T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026095" "0" "00" "3" "49459630" "49459630" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:51:09" "AMT_000089" "g.49459630del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026096" "0" "00" "3" "49459631" "49459631" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:51:28" "AMT_000090" "g.49459631C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026097" "0" "00" "3" "49459647" "49459651" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:51:46" "AMT_000091" "g.49459647_49459651del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026098" "0" "00" "3" "49459695" "49459695" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 00:51:33" "AMT_000093" "g.49459695G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026099" "0" "00" "3" "49459824" "49459825" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 00:51:55" "AMT_000094" "g.49459824_49459825insGGG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026100" "0" "00" "3" "49459866" "49459869" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 00:52:16" "AMT_000095" "g.49459866_49459869del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026101" "0" "00" "3" "49459941" "49459941" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 00:52:38" "AMT_000096" "g.49459941G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026102" "0" "00" "3" "49459949" "49459949" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 00:52:59" "AMT_000097" "g.49459949T>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 = 510 "{{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}}" "0000020366" "00000464" "00" "1740" "0" "1740" "0" "c.*696C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020366" "00000465" "00" "2122" "0" "2122" "0" "n.2122C>T" "" "" "" "" "" "" "" "" "-" "0000020366" "00000466" "00" "1776" "0" "1776" "0" "c.*696C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020366" "00000467" "00" "1661" "0" "1661" "0" "c.*500C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020366" "00000468" "00" "1908" "0" "1908" "0" "c.*696C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020367" "00000464" "00" "1722" "0" "1722" "0" "c.*678C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020367" "00000465" "00" "2104" "0" "2104" "0" "n.2104C>G" "" "" "" "" "" "" "" "" "-" "0000020367" "00000466" "00" "1758" "0" "1758" "0" "c.*678C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020367" "00000467" "00" "1643" "0" "1643" "0" "c.*482C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020367" "00000468" "00" "1890" "0" "1890" "0" "c.*678C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020368" "00000464" "00" "1589" "0" "1589" "0" "c.*545C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020368" "00000465" "00" "1971" "0" "1971" "0" "n.1971C>T" "" "" "" "" "" "" "" "" "-" "0000020368" "00000466" "00" "1625" "0" "1625" "0" "c.*545C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020368" "00000467" "00" "1510" "0" "1510" "0" "c.*349C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020368" "00000468" "00" "1757" "0" "1757" "0" "c.*545C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020369" "00000464" "00" "1468" "0" "1468" "0" "c.*424G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020369" "00000465" "00" "1850" "0" "1850" "0" "n.1850G>C" "" "" "" "" "" "" "" "" "-" "0000020369" "00000466" "00" "1504" "0" "1504" "0" "c.*424G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020369" "00000467" "00" "1389" "0" "1389" "0" "c.*228G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020369" "00000468" "00" "1636" "0" "1636" "0" "c.*424G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020370" "00000464" "00" "1451" "0" "1451" "0" "c.*407T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020370" "00000465" "00" "1833" "0" "1833" "0" "n.1833T>C" "" "" "" "" "" "" "" "" "-" "0000020370" "00000466" "00" "1487" "0" "1487" "0" "c.*407T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020370" "00000467" "00" "1372" "0" "1372" "0" "c.*211T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020370" "00000468" "00" "1619" "0" "1619" "0" "c.*407T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020371" "00000464" "00" "1207" "0" "1207" "0" "c.*163G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020371" "00000465" "00" "1589" "0" "1589" "0" "n.1589G>C" "" "" "" "" "" "" "" "" "-" "0000020371" "00000466" "00" "1243" "0" "1243" "0" "c.*163G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020371" "00000467" "00" "1138" "-10" "1138" "-10" "c.1138-10G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020371" "00000468" "00" "1375" "0" "1375" "0" "c.*163G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020372" "00000464" "00" "1174" "0" "1174" "0" "c.*130G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020372" "00000465" "00" "1556" "0" "1556" "0" "n.1556G>T" "" "" "" "" "" "" "" "" "-" "0000020372" "00000466" "00" "1210" "0" "1210" "0" "c.*130G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020372" "00000467" "00" "1138" "-43" "1138" "-43" "c.1138-43G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020372" "00000468" "00" "1342" "0" "1342" "0" "c.*130G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020373" "00000464" "00" "1022" "0" "1022" "0" "c.1022C>A" "" "p.(Thr341Lys)" "r.(?)" "" "" "" "" "" "-" "0000020373" "00000465" "00" "1404" "0" "1404" "0" "n.1404C>A" "" "" "" "" "" "" "" "" "-" "0000020373" "00000466" "00" "1058" "0" "1058" "0" "c.1058C>A" "" "p.(Thr353Lys)" "r.(?)" "" "" "" "" "" "-" "0000020373" "00000467" "00" "1137" "53" "1137" "53" "c.1137+53C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020373" "00000468" "00" "1190" "0" "1190" "0" "c.1190C>A" "" "p.(Thr397Lys)" "r.(?)" "" "" "" "" "" "-" "0000020374" "00000464" "00" "989" "0" "989" "0" "c.989T>C" "" "p.(Met330Thr)" "r.(?)" "" "" "" "" "" "-" "0000020374" "00000465" "00" "1371" "0" "1371" "0" "n.1371T>C" "" "" "" "" "" "" "" "" "-" "0000020374" "00000466" "00" "1025" "0" "1025" "0" "c.1025T>C" "" "p.(Met342Thr)" "r.(?)" "" "" "" "" "" "-" "0000020374" "00000467" "00" "1137" "20" "1137" "20" "c.1137+20T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020374" "00000468" "00" "1157" "0" "1157" "0" "c.1157T>C" "" "p.(Met386Thr)" "r.(?)" "" "" "" "" "" "-" "0000020375" "00000464" "00" "977" "0" "977" "0" "c.977G>A" "" "p.(Arg326Gln)" "r.(?)" "" "" "" "" "" "-" "0000020375" "00000465" "00" "1359" "0" "1359" "0" "n.1359G>A" "" "" "" "" "" "" "" "" "-" "0000020375" "00000466" "00" "1013" "0" "1013" "0" "c.1013G>A" "" "p.(Arg338Gln)" "r.(?)" "" "" "" "" "" "-" "0000020375" "00000467" "00" "1137" "8" "1137" "8" "c.1137+8G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020375" "00000468" "00" "1145" "0" "1145" "0" "c.1145G>A" "" "p.(Arg382Gln)" "r.(?)" "" "" "" "" "" "-" "0000020376" "00000464" "00" "944" "0" "944" "0" "c.944G>A" "" "p.(Arg315His)" "r.(?)" "" "" "" "" "" "-" "0000020376" "00000465" "00" "1326" "0" "1326" "0" "n.1326G>A" "" "" "" "" "" "" "" "" "-" "0000020376" "00000466" "00" "980" "0" "980" "0" "c.980G>A" "" "p.(Arg327His)" "r.(?)" "" "" "" "" "" "-" "0000020376" "00000467" "00" "1112" "0" "1112" "0" "c.1112G>A" "" "p.(Arg371His)" "r.(?)" "" "" "" "" "" "-" "0000020376" "00000468" "00" "1112" "0" "1112" "0" "c.1112G>A" "" "p.(Arg371His)" "r.(?)" "" "" "" "" "" "-" "0000020377" "00000464" "00" "914" "0" "914" "0" "c.914C>T" "" "p.(Ala305Val)" "r.(?)" "" "" "" "" "" "-" "0000020377" "00000465" "00" "1296" "0" "1296" "0" "n.1296C>T" "" "" "" "" "" "" "" "" "-" "0000020377" "00000466" "00" "950" "0" "950" "0" "c.950C>T" "" "p.(Ala317Val)" "r.(?)" "" "" "" "" "" "-" "0000020377" "00000467" "00" "1082" "0" "1082" "0" "c.1082C>T" "" "p.(Ala361Val)" "r.(?)" "" "" "" "" "" "-" "0000020377" "00000468" "00" "1082" "0" "1082" "0" "c.1082C>T" "" "p.(Ala361Val)" "r.(?)" "" "" "" "" "" "-" "0000020378" "00000464" "00" "861" "0" "861" "0" "c.861G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020378" "00000465" "00" "1243" "0" "1243" "0" "n.1243G>A" "" "" "" "" "" "" "" "" "-" "0000020378" "00000466" "00" "897" "0" "897" "0" "c.897G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020378" "00000467" "00" "1029" "0" "1029" "0" "c.1029G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020378" "00000468" "00" "1029" "0" "1029" "0" "c.1029G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020379" "00000464" "00" "814" "0" "815" "0" "c.814_815delinsT" "" "p.(Ala272Serfs*10)" "r.(?)" "" "" "" "" "" "-" "0000020379" "00000465" "00" "1196" "0" "1197" "0" "n.1196_1197delinsT" "" "" "" "" "" "" "" "" "-" "0000020379" "00000466" "00" "850" "0" "851" "0" "c.850_851delinsT" "" "p.(Ala284Serfs*10)" "r.(?)" "" "" "" "" "" "-" "0000020379" "00000467" "00" "982" "0" "983" "0" "c.982_983delinsT" "" "p.(Ala328Serfs*10)" "r.(?)" "" "" "" "" "" "-" "0000020379" "00000468" "00" "982" "0" "983" "0" "c.982_983delinsT" "" "p.(Ala328Serfs*10)" "r.(?)" "" "" "" "" "" "-" "0000020380" "00000464" "00" "802" "0" "804" "0" "c.802_804del" "" "p.(Met268del)" "r.(?)" "" "" "" "" "" "-" "0000020380" "00000465" "00" "1184" "0" "1186" "0" "n.1184_1186del" "" "" "" "" "" "" "" "" "-" "0000020380" "00000466" "00" "838" "0" "840" "0" "c.838_840del" "" "p.(Met280del)" "r.(?)" "" "" "" "" "" "-" "0000020380" "00000467" "00" "970" "0" "972" "0" "c.970_972del" "" "p.(Met324del)" "r.(?)" "" "" "" "" "" "-" "0000020380" "00000468" "00" "970" "0" "972" "0" "c.970_972del" "" "p.(Met324del)" "r.(?)" "" "" "" "" "" "-" "0000020381" "00000464" "00" "793" "0" "793" "0" "c.793G>A" "" "p.(Val265Met)" "r.(?)" "" "" "" "" "" "-" "0000020381" "00000465" "00" "1175" "0" "1175" "0" "n.1175G>A" "" "" "" "" "" "" "" "" "-" "0000020381" "00000466" "00" "829" "0" "829" "0" "c.829G>A" "" "p.(Val277Met)" "r.(?)" "" "" "" "" "" "-" "0000020381" "00000467" "00" "961" "0" "961" "0" "c.961G>A" "" "p.(Val321Met)" "r.(?)" "" "" "" "" "" "-" "0000020381" "00000468" "00" "961" "0" "961" "0" "c.961G>A" "" "p.(Val321Met)" "r.(?)" "" "" "" "" "" "-" "0000020382" "00000464" "00" "791" "0" "791" "0" "c.791G>A" "" "p.(Arg264His)" "r.(?)" "" "" "" "" "" "-" "0000020382" "00000465" "00" "1173" "0" "1173" "0" "n.1173G>A" "" "" "" "" "" "" "" "" "-" "0000020382" "00000466" "00" "827" "0" "827" "0" "c.827G>A" "" "p.(Arg276His)" "r.(?)" "" "" "" "" "" "-" "0000020382" "00000467" "00" "959" "0" "959" "0" "c.959G>A" "" "p.(Arg320His)" "r.(?)" "" "" "" "" "" "-" "0000020382" "00000468" "00" "959" "0" "959" "0" "c.959G>A" "" "p.(Arg320His)" "r.(?)" "" "" "" "" "" "-" "0000020383" "00000464" "00" "786" "0" "786" "0" "c.786G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020383" "00000465" "00" "1168" "0" "1168" "0" "n.1168G>A" "" "" "" "" "" "" "" "" "-" "0000020383" "00000466" "00" "822" "0" "822" "0" "c.822G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020383" "00000467" "00" "954" "0" "954" "0" "c.954G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020383" "00000468" "00" "954" "0" "954" "0" "c.954G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020384" "00000464" "00" "730" "0" "730" "0" "c.730A>G" "" "p.(Met244Val)" "r.(?)" "" "" "" "" "" "-" "0000020384" "00000465" "00" "1112" "0" "1112" "0" "n.1112A>G" "" "" "" "" "" "" "" "" "-" "0000020384" "00000466" "00" "766" "0" "766" "0" "c.766A>G" "" "p.(Met256Val)" "r.(?)" "" "" "" "" "" "-" "0000020384" "00000467" "00" "898" "0" "898" "0" "c.898A>G" "" "p.(Met300Val)" "r.(?)" "" "" "" "" "" "-" "0000020384" "00000468" "00" "898" "0" "898" "0" "c.898A>G" "" "p.(Met300Val)" "r.(?)" "" "" "" "" "" "-" "0000020385" "00000464" "00" "719" "0" "719" "0" "c.719G>A" "" "p.(Arg240His)" "r.(?)" "" "" "" "" "" "-" "0000020385" "00000465" "00" "1101" "0" "1101" "0" "n.1101G>A" "" "" "" "" "" "" "" "" "-" "0000020385" "00000466" "00" "755" "0" "755" "0" "c.755G>A" "" "p.(Arg252His)" "r.(?)" "" "" "" "" "" "-" "0000020385" "00000467" "00" "887" "0" "887" "0" "c.887G>A" "" "p.(Arg296His)" "r.(?)" "" "" "" "" "" "-" "0000020385" "00000468" "00" "887" "0" "887" "0" "c.887G>A" "" "p.(Arg296His)" "r.(?)" "" "" "" "" "" "-" "0000020386" "00000464" "00" "710" "-1" "710" "-1" "c.710-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020386" "00000465" "00" "1092" "-1" "1092" "-1" "n.1092-1G>A" "" "" "" "" "" "" "" "" "-" "0000020386" "00000466" "00" "746" "-1" "746" "-1" "c.746-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020386" "00000467" "00" "878" "-1" "878" "-1" "c.878-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020386" "00000468" "00" "878" "-1" "878" "-1" "c.878-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020387" "00000464" "00" "702" "0" "702" "0" "c.702G>A" "" "p.(Trp234*)" "r.(?)" "" "" "" "" "" "-" "0000020387" "00000465" "00" "1084" "0" "1084" "0" "n.1084G>A" "" "" "" "" "" "" "" "" "-" "0000020387" "00000466" "00" "738" "0" "738" "0" "c.738G>A" "" "p.(Trp246*)" "r.(?)" "" "" "" "" "" "-" "0000020387" "00000467" "00" "870" "0" "870" "0" "c.870G>A" "" "p.(Trp290*)" "r.(?)" "" "" "" "" "" "-" "0000020387" "00000468" "00" "870" "0" "870" "0" "c.870G>A" "" "p.(Trp290*)" "r.(?)" "" "" "" "" "" "-" "0000020388" "00000464" "00" "690" "0" "690" "0" "c.690C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020388" "00000465" "00" "1072" "0" "1072" "0" "n.1072C>A" "" "" "" "" "" "" "" "" "-" "0000020388" "00000466" "00" "726" "0" "726" "0" "c.726C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020388" "00000467" "00" "858" "0" "858" "0" "c.858C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020388" "00000468" "00" "858" "0" "858" "0" "c.858C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020389" "00000464" "00" "658" "0" "658" "0" "c.658G>C" "" "p.(Asp220His)" "r.(?)" "" "" "" "" "" "-" "0000020389" "00000465" "00" "1040" "0" "1040" "0" "n.1040G>C" "" "" "" "" "" "" "" "" "-" "0000020389" "00000466" "00" "694" "0" "694" "0" "c.694G>C" "" "p.(Asp232His)" "r.(?)" "" "" "" "" "" "-" "0000020389" "00000467" "00" "826" "0" "826" "0" "c.826G>C" "" "p.(Asp276His)" "r.(?)" "" "" "" "" "" "-" "0000020389" "00000468" "00" "826" "0" "826" "0" "c.826G>C" "" "p.(Asp276His)" "r.(?)" "" "" "" "" "" "-" "0000020390" "00000464" "00" "657" "0" "657" "0" "c.657T>A" "" "p.(Asn219Lys)" "r.(?)" "" "" "" "" "" "-" "0000020390" "00000465" "00" "1039" "0" "1039" "0" "n.1039T>A" "" "" "" "" "" "" "" "" "-" "0000020390" "00000466" "00" "693" "0" "693" "0" "c.693T>A" "" "p.(Asn231Lys)" "r.(?)" "" "" "" "" "" "-" "0000020390" "00000467" "00" "825" "0" "825" "0" "c.825T>A" "" "p.(Asn275Lys)" "r.(?)" "" "" "" "" "" "-" "0000020390" "00000468" "00" "825" "0" "825" "0" "c.825T>A" "" "p.(Asn275Lys)" "r.(?)" "" "" "" "" "" "-" "0000020391" "00000464" "00" "638" "0" "638" "0" "c.638G>A" "" "p.(Gly213Asp)" "r.(?)" "" "" "" "" "" "-" "0000020391" "00000465" "00" "1020" "0" "1020" "0" "n.1020G>A" "" "" "" "" "" "" "" "" "-" "0000020391" "00000466" "00" "674" "0" "674" "0" "c.674G>A" "" "p.(Gly225Asp)" "r.(?)" "" "" "" "" "" "-" "0000020391" "00000467" "00" "806" "0" "806" "0" "c.806G>A" "" "p.(Gly269Asp)" "r.(?)" "" "" "" "" "" "-" "0000020391" "00000468" "00" "806" "0" "806" "0" "c.806G>A" "" "p.(Gly269Asp)" "r.(?)" "" "" "" "" "" "-" "0000020392" "00000464" "00" "621" "0" "621" "0" "c.621C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020392" "00000465" "00" "1003" "0" "1003" "0" "n.1003C>T" "" "" "" "" "" "" "" "" "-" "0000020392" "00000466" "00" "657" "0" "657" "0" "c.657C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020392" "00000467" "00" "789" "0" "789" "0" "c.789C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020392" "00000468" "00" "789" "0" "789" "0" "c.789C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020393" "00000464" "00" "529" "-3" "529" "-3" "c.529-3C>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020393" "00000465" "00" "911" "-3" "911" "-3" "n.911-3C>T" "" "" "" "" "" "" "" "" "-" "0000020393" "00000466" "00" "565" "-3" "565" "-3" "c.565-3C>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020393" "00000467" "00" "697" "-3" "697" "-3" "c.697-3C>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020393" "00000468" "00" "697" "-3" "697" "-3" "c.697-3C>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020394" "00000464" "00" "528" "2" "528" "2" "c.528+2T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020394" "00000465" "00" "910" "2" "910" "2" "n.910+2T>A" "" "" "" "" "" "" "" "" "-" "0000020394" "00000466" "00" "564" "2" "564" "2" "c.564+2T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020394" "00000467" "00" "696" "2" "696" "2" "c.696+2T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020394" "00000468" "00" "696" "2" "696" "2" "c.696+2T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020395" "00000464" "00" "517" "0" "517" "0" "c.517G>C" "" "p.(Asp173His)" "r.(?)" "" "" "" "" "" "-" "0000020395" "00000465" "00" "899" "0" "899" "0" "n.899G>C" "" "" "" "" "" "" "" "" "-" "0000020395" "00000466" "00" "553" "0" "553" "0" "c.553G>C" "" "p.(Asp185His)" "r.(?)" "" "" "" "" "" "-" "0000020395" "00000467" "00" "685" "0" "685" "0" "c.685G>C" "" "p.(Asp229His)" "r.(?)" "" "" "" "" "" "-" "0000020395" "00000468" "00" "685" "0" "685" "0" "c.685G>C" "" "p.(Asp229His)" "r.(?)" "" "" "" "" "" "-" "0000020396" "00000464" "00" "506" "0" "506" "0" "c.506A>G" "" "p.(Tyr169Cys)" "r.(?)" "" "" "" "" "" "-" "0000020396" "00000465" "00" "888" "0" "888" "0" "n.888A>G" "" "" "" "" "" "" "" "" "-" "0000020396" "00000466" "00" "542" "0" "542" "0" "c.542A>G" "" "p.(Tyr181Cys)" "r.(?)" "" "" "" "" "" "-" "0000020396" "00000467" "00" "674" "0" "674" "0" "c.674A>G" "" "p.(Tyr225Cys)" "r.(?)" "" "" "" "" "" "-" "0000020396" "00000468" "00" "674" "0" "674" "0" "c.674A>G" "" "p.(Tyr225Cys)" "r.(?)" "" "" "" "" "" "-" "0000020397" "00000464" "00" "467" "0" "467" "0" "c.467T>C" "" "p.(Val156Ala)" "r.(?)" "" "" "" "" "" "-" "0000020397" "00000465" "00" "849" "0" "849" "0" "n.849T>C" "" "" "" "" "" "" "" "" "-" "0000020397" "00000466" "00" "503" "0" "503" "0" "c.503T>C" "" "p.(Val168Ala)" "r.(?)" "" "" "" "" "" "-" "0000020397" "00000467" "00" "635" "0" "635" "0" "c.635T>C" "" "p.(Val212Ala)" "r.(?)" "" "" "" "" "" "-" "0000020397" "00000468" "00" "635" "0" "635" "0" "c.635T>C" "" "p.(Val212Ala)" "r.(?)" "" "" "" "" "" "-" "0000020398" "00000464" "00" "463" "0" "463" "0" "c.463G>A" "" "p.(Glu155Lys)" "r.(?)" "" "" "" "" "" "-" "0000020398" "00000465" "00" "845" "0" "845" "0" "n.845G>A" "" "" "" "" "" "" "" "" "-" "0000020398" "00000466" "00" "499" "0" "499" "0" "c.499G>A" "" "p.(Glu167Lys)" "r.(?)" "" "" "" "" "" "-" "0000020398" "00000467" "00" "631" "0" "631" "0" "c.631G>A" "" "p.(Glu211Lys)" "r.(?)" "" "" "" "" "" "-" "0000020398" "00000468" "00" "631" "0" "631" "0" "c.631G>A" "" "p.(Glu211Lys)" "r.(?)" "" "" "" "" "" "-" "0000020399" "00000464" "00" "406" "0" "406" "0" "c.406C>T" "" "p.(Gln136*)" "r.(?)" "" "" "" "" "" "-" "0000020399" "00000465" "00" "788" "0" "788" "0" "n.788C>T" "" "" "" "" "" "" "" "" "-" "0000020399" "00000466" "00" "442" "0" "442" "0" "c.442C>T" "" "p.(Gln148*)" "r.(?)" "" "" "" "" "" "-" "0000020399" "00000467" "00" "574" "0" "574" "0" "c.574C>T" "" "p.(Gln192*)" "r.(?)" "" "" "" "" "" "-" "0000020399" "00000468" "00" "574" "0" "574" "0" "c.574C>T" "" "p.(Gln192*)" "r.(?)" "" "" "" "" "" "-" "0000020400" "00000464" "00" "367" "0" "367" "0" "c.367del" "" "p.(Leu123Cysfs*2)" "r.(?)" "" "" "" "" "" "-" "0000020400" "00000465" "00" "749" "0" "749" "0" "n.749del" "" "" "" "" "" "" "" "" "-" "0000020400" "00000466" "00" "403" "0" "403" "0" "c.403del" "" "p.(Leu135Cysfs*2)" "r.(?)" "" "" "" "" "" "-" "0000020400" "00000467" "00" "535" "0" "535" "0" "c.535del" "" "p.(Leu179Cysfs*2)" "r.(?)" "" "" "" "" "" "-" "0000020400" "00000468" "00" "535" "0" "535" "0" "c.535del" "" "p.(Leu179Cysfs*2)" "r.(?)" "" "" "" "" "" "-" "0000020401" "00000464" "00" "345" "0" "345" "0" "c.345C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020401" "00000465" "00" "727" "0" "727" "0" "n.727C>T" "" "" "" "" "" "" "" "" "-" "0000020401" "00000466" "00" "381" "0" "381" "0" "c.381C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020401" "00000467" "00" "513" "0" "513" "0" "c.513C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020401" "00000468" "00" "513" "0" "513" "0" "c.513C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020402" "00000464" "00" "335" "0" "335" "0" "c.335G>C" "" "p.(Arg112Thr)" "r.(?)" "" "" "" "" "" "-" "0000020402" "00000465" "00" "717" "0" "717" "0" "n.717G>C" "" "" "" "" "" "" "" "" "-" "0000020402" "00000466" "00" "371" "0" "371" "0" "c.371G>C" "" "p.(Arg124Thr)" "r.(?)" "" "" "" "" "" "-" "0000020402" "00000467" "00" "503" "0" "503" "0" "c.503G>C" "" "p.(Arg168Thr)" "r.(?)" "" "" "" "" "" "-" "0000020402" "00000468" "00" "503" "0" "503" "0" "c.503G>C" "" "p.(Arg168Thr)" "r.(?)" "" "" "" "" "" "-" "0000020403" "00000464" "00" "308" "0" "308" "0" "c.308A>G" "" "p.(Lys103Arg)" "r.(?)" "" "" "" "" "" "-" "0000020403" "00000465" "00" "690" "0" "690" "0" "n.690A>G" "" "" "" "" "" "" "" "" "-" "0000020403" "00000466" "00" "344" "0" "344" "0" "c.344A>G" "" "p.(Lys115Arg)" "r.(?)" "" "" "" "" "" "-" "0000020403" "00000467" "00" "476" "0" "476" "0" "c.476A>G" "" "p.(Lys159Arg)" "r.(?)" "" "" "" "" "" "-" "0000020403" "00000468" "00" "476" "0" "476" "0" "c.476A>G" "" "p.(Lys159Arg)" "r.(?)" "" "" "" "" "" "-" "0000020404" "00000464" "00" "303" "12" "303" "13" "c.303+12_303+13del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020404" "00000465" "00" "685" "12" "685" "13" "n.685+12_685+13del" "" "" "" "" "" "" "" "" "-" "0000020404" "00000466" "00" "340" "-411" "340" "-410" "c.340-411_340-410del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020404" "00000467" "00" "471" "12" "471" "13" "c.471+12_471+13del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020404" "00000468" "00" "471" "12" "471" "13" "c.471+12_471+13del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020405" "00000464" "00" "303" "2" "303" "2" "c.303+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020405" "00000465" "00" "685" "2" "685" "2" "n.685+2T>C" "" "" "" "" "" "" "" "" "-" "0000020405" "00000466" "00" "340" "-421" "340" "-421" "c.340-421T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020405" "00000467" "00" "471" "2" "471" "2" "c.471+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020405" "00000468" "00" "471" "2" "471" "2" "c.471+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020406" "00000464" "00" "284" "0" "298" "0" "c.284_298del" "" "p.(Lys95_Leu99del)" "r.(?)" "" "" "" "" "" "-" "0000020406" "00000465" "00" "666" "0" "680" "0" "n.666_680del" "" "" "" "" "" "" "" "" "-" "0000020406" "00000466" "00" "340" "-442" "340" "-428" "c.340-442_340-428del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020406" "00000467" "00" "452" "0" "466" "0" "c.452_466del" "" "p.(Lys151_Leu155del)" "r.(?)" "" "" "" "" "" "-" "0000020406" "00000468" "00" "452" "0" "466" "0" "c.452_466del" "" "p.(Lys151_Leu155del)" "r.(?)" "" "" "" "" "" "-" "0000020407" "00000464" "00" "268" "0" "268" "0" "c.268G>A" "" "p.(Ala90Thr)" "r.(?)" "" "" "" "" "" "-" "0000020407" "00000465" "00" "650" "0" "650" "0" "n.650G>A" "" "" "" "" "" "" "" "" "-" "0000020407" "00000466" "00" "340" "-458" "340" "-458" "c.340-458G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020407" "00000467" "00" "436" "0" "436" "0" "c.436G>A" "" "p.(Ala146Thr)" "r.(?)" "" "" "" "" "" "-" "0000020407" "00000468" "00" "436" "0" "436" "0" "c.436G>A" "" "p.(Ala146Thr)" "r.(?)" "" "" "" "" "" "-" "0000020408" "00000464" "00" "266" "0" "266" "0" "c.266A>T" "" "p.(Asn89Ile)" "r.(?)" "" "" "" "" "" "-" "0000020408" "00000465" "00" "648" "0" "648" "0" "n.648A>T" "" "" "" "" "" "" "" "" "-" "0000020408" "00000466" "00" "340" "-460" "340" "-460" "c.340-460A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020408" "00000467" "00" "434" "0" "434" "0" "c.434A>T" "" "p.(Asn145Ile)" "r.(?)" "" "" "" "" "" "-" "0000020408" "00000468" "00" "434" "0" "434" "0" "c.434A>T" "" "p.(Asn145Ile)" "r.(?)" "" "" "" "" "" "-" "0000020409" "00000464" "00" "186" "0" "186" "0" "c.186G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020409" "00000465" "00" "568" "0" "568" "0" "n.568G>A" "" "" "" "" "" "" "" "" "-" "0000020409" "00000466" "00" "340" "-540" "340" "-540" "c.340-540G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020409" "00000467" "00" "354" "0" "354" "0" "c.354G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020409" "00000468" "00" "354" "0" "354" "0" "c.354G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020410" "00000464" "00" "182" "0" "182" "0" "c.182C>T" "" "p.(Ser61Leu)" "r.(?)" "" "" "" "" "" "-" "0000020410" "00000465" "00" "564" "0" "564" "0" "n.564C>T" "" "" "" "" "" "" "" "" "-" "0000020410" "00000466" "00" "340" "-544" "340" "-544" "c.340-544C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020410" "00000467" "00" "350" "0" "350" "0" "c.350C>T" "" "p.(Ser117Leu)" "r.(?)" "" "" "" "" "" "-" "0000020410" "00000468" "00" "350" "0" "350" "0" "c.350C>T" "" "p.(Ser117Leu)" "r.(?)" "" "" "" "" "" "-" "0000020411" "00000464" "00" "91" "-1" "91" "-1" "c.91-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020411" "00000465" "00" "473" "-1" "473" "-1" "n.473-1G>C" "" "" "" "" "" "" "" "" "-" "0000020411" "00000466" "00" "259" "-1" "259" "-1" "c.259-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020411" "00000467" "00" "259" "-1" "259" "-1" "c.259-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020411" "00000468" "00" "259" "-1" "259" "-1" "c.259-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020412" "00000464" "00" "90" "229" "90" "229" "c.90+229C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020412" "00000465" "00" "444" "0" "444" "0" "n.444C>T" "" "" "" "" "" "" "" "" "-" "0000020412" "00000466" "00" "230" "0" "230" "0" "c.230C>T" "" "p.(Ser77Leu)" "r.(?)" "" "" "" "" "" "-" "0000020412" "00000467" "00" "230" "0" "230" "0" "c.230C>T" "" "p.(Ser77Leu)" "r.(?)" "" "" "" "" "" "-" "0000020412" "00000468" "00" "230" "0" "230" "0" "c.230C>T" "" "p.(Ser77Leu)" "r.(?)" "" "" "" "" "" "-" "0000020413" "00000464" "00" "90" "216" "90" "216" "c.90+216C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020413" "00000465" "00" "431" "0" "431" "0" "n.431C>T" "" "" "" "" "" "" "" "" "-" "0000020413" "00000466" "00" "217" "0" "217" "0" "c.217C>T" "" "p.(Arg73Cys)" "r.(?)" "" "" "" "" "" "-" "0000020413" "00000467" "00" "217" "0" "217" "0" "c.217C>T" "" "p.(Arg73Cys)" "r.(?)" "" "" "" "" "" "-" "0000020413" "00000468" "00" "217" "0" "217" "0" "c.217C>T" "" "p.(Arg73Cys)" "r.(?)" "" "" "" "" "" "-" "0000020414" "00000464" "00" "90" "194" "90" "194" "c.90+194C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020414" "00000465" "00" "409" "0" "409" "0" "n.409C>T" "" "" "" "" "" "" "" "" "-" "0000020414" "00000466" "00" "195" "0" "195" "0" "c.195C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020414" "00000467" "00" "195" "0" "195" "0" "c.195C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020414" "00000468" "00" "195" "0" "195" "0" "c.195C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020415" "00000464" "00" "90" "152" "90" "152" "c.90+152G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020415" "00000465" "00" "367" "0" "367" "0" "n.367G>A" "" "" "" "" "" "" "" "" "-" "0000020415" "00000466" "00" "153" "0" "153" "0" "c.153G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020415" "00000467" "00" "153" "0" "153" "0" "c.153G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020415" "00000468" "00" "153" "0" "153" "0" "c.153G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020416" "00000464" "00" "90" "151" "90" "151" "c.90+151C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020416" "00000465" "00" "366" "0" "366" "0" "n.366C>T" "" "" "" "" "" "" "" "" "-" "0000020416" "00000466" "00" "152" "0" "152" "0" "c.152C>T" "" "p.(Ala51Val)" "r.(?)" "" "" "" "" "" "-" "0000020416" "00000467" "00" "152" "0" "152" "0" "c.152C>T" "" "p.(Ala51Val)" "r.(?)" "" "" "" "" "" "-" "0000020416" "00000468" "00" "152" "0" "152" "0" "c.152C>T" "" "p.(Ala51Val)" "r.(?)" "" "" "" "" "" "-" "0000020417" "00000464" "00" "90" "147" "90" "147" "c.90+147del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020417" "00000465" "00" "362" "0" "362" "0" "n.362del" "" "" "" "" "" "" "" "" "-" "0000020417" "00000466" "00" "148" "0" "148" "0" "c.148del" "" "p.(Val50Trpfs*46)" "r.(?)" "" "" "" "" "" "-" "0000020417" "00000467" "00" "148" "0" "148" "0" "c.148del" "" "p.(Val50Trpfs*46)" "r.(?)" "" "" "" "" "" "-" "0000020417" "00000468" "00" "148" "0" "148" "0" "c.148del" "" "p.(Val50Trpfs*46)" "r.(?)" "" "" "" "" "" "-" "0000020418" "00000464" "00" "90" "138" "90" "138" "c.90+138G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020418" "00000465" "00" "353" "0" "353" "0" "n.353G>A" "" "" "" "" "" "" "" "" "-" "0000020418" "00000466" "00" "139" "0" "139" "0" "c.139G>A" "" "p.(Gly47Arg)" "r.(?)" "" "" "" "" "" "-" "0000020418" "00000467" "00" "139" "0" "139" "0" "c.139G>A" "" "p.(Gly47Arg)" "r.(?)" "" "" "" "" "" "-" "0000020418" "00000468" "00" "139" "0" "139" "0" "c.139G>A" "" "p.(Gly47Arg)" "r.(?)" "" "" "" "" "" "-" "0000020419" "00000464" "00" "90" "138" "90" "138" "c.90+138G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020419" "00000465" "00" "353" "0" "353" "0" "n.353G>T" "" "" "" "" "" "" "" "" "-" "0000020419" "00000466" "00" "139" "0" "139" "0" "c.139G>T" "" "p.(Gly47Trp)" "r.(?)" "" "" "" "" "" "-" "0000020419" "00000467" "00" "139" "0" "139" "0" "c.139G>T" "" "p.(Gly47Trp)" "r.(?)" "" "" "" "" "" "-" "0000020419" "00000468" "00" "139" "0" "139" "0" "c.139G>T" "" "p.(Gly47Trp)" "r.(?)" "" "" "" "" "" "-" "0000020420" "00000464" "00" "90" "124" "90" "124" "c.90+124A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020420" "00000465" "00" "339" "0" "339" "0" "n.339A>G" "" "" "" "" "" "" "" "" "-" "0000020420" "00000466" "00" "125" "0" "125" "0" "c.125A>G" "" "p.(His42Arg)" "r.(?)" "" "" "" "" "" "-" "0000020420" "00000467" "00" "125" "0" "125" "0" "c.125A>G" "" "p.(His42Arg)" "r.(?)" "" "" "" "" "" "-" "0000020420" "00000468" "00" "125" "0" "125" "0" "c.125A>G" "" "p.(His42Arg)" "r.(?)" "" "" "" "" "" "-" "0000020421" "00000464" "00" "90" "100" "90" "100" "c.90+100G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020421" "00000465" "00" "319" "-4" "319" "-4" "n.319-4G>A" "" "" "" "" "" "" "" "" "-" "0000020421" "00000466" "00" "101" "0" "101" "0" "c.101G>A" "" "p.(Arg34His)" "r.(?)" "" "" "" "" "" "-" "0000020421" "00000467" "00" "101" "0" "101" "0" "c.101G>A" "" "p.(Arg34His)" "r.(?)" "" "" "" "" "" "-" "0000020421" "00000468" "00" "101" "0" "101" "0" "c.101G>A" "" "p.(Arg34His)" "r.(?)" "" "" "" "" "" "-" "0000020422" "00000464" "00" "90" "81" "90" "81" "c.90+81C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020422" "00000465" "00" "319" "-23" "319" "-23" "n.319-23C>T" "" "" "" "" "" "" "" "" "-" "0000020422" "00000466" "00" "91" "-9" "91" "-9" "c.91-9C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020422" "00000467" "00" "91" "-9" "91" "-9" "c.91-9C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020422" "00000468" "00" "91" "-9" "91" "-9" "c.91-9C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020423" "00000464" "00" "84" "0" "84" "0" "c.84C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020423" "00000465" "00" "312" "0" "312" "0" "n.312C>T" "" "" "" "" "" "" "" "" "-" "0000020423" "00000466" "00" "84" "0" "84" "0" "c.84C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020423" "00000467" "00" "84" "0" "84" "0" "c.84C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020423" "00000468" "00" "84" "0" "84" "0" "c.84C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020424" "00000464" "00" "63" "0" "63" "0" "c.63del" "" "p.(Leu22Cysfs*18)" "r.(?)" "" "" "" "" "" "-" "0000020424" "00000465" "00" "291" "0" "291" "0" "n.291del" "" "" "" "" "" "" "" "" "-" "0000020424" "00000466" "00" "63" "0" "63" "0" "c.63del" "" "p.(Leu22Cysfs*74)" "r.(?)" "" "" "" "" "" "-" "0000020424" "00000467" "00" "63" "0" "63" "0" "c.63del" "" "p.(Leu22Cysfs*74)" "r.(?)" "" "" "" "" "" "-" "0000020424" "00000468" "00" "63" "0" "63" "0" "c.63del" "" "p.(Leu22Cysfs*74)" "r.(?)" "" "" "" "" "" "-" "0000020425" "00000464" "00" "61" "0" "61" "0" "c.61del" "" "p.(Ala21Profs*19)" "r.(?)" "" "" "" "" "" "-" "0000020425" "00000465" "00" "289" "0" "289" "0" "n.289del" "" "" "" "" "" "" "" "" "-" "0000020425" "00000466" "00" "61" "0" "61" "0" "c.61del" "" "p.(Ala21Profs*75)" "r.(?)" "" "" "" "" "" "-" "0000020425" "00000467" "00" "61" "0" "61" "0" "c.61del" "" "p.(Ala21Profs*75)" "r.(?)" "" "" "" "" "" "-" "0000020425" "00000468" "00" "61" "0" "61" "0" "c.61del" "" "p.(Ala21Profs*75)" "r.(?)" "" "" "" "" "" "-" "0000020426" "00000464" "00" "59" "0" "59" "0" "c.59del" "" "p.(Pro20Argfs*20)" "r.(?)" "" "" "" "" "" "-" "0000020426" "00000465" "00" "287" "0" "287" "0" "n.287del" "" "" "" "" "" "" "" "" "-" "0000020426" "00000466" "00" "59" "0" "59" "0" "c.59del" "" "p.(Pro20Argfs*76)" "r.(?)" "" "" "" "" "" "-" "0000020426" "00000467" "00" "59" "0" "59" "0" "c.59del" "" "p.(Pro20Argfs*76)" "r.(?)" "" "" "" "" "" "-" "0000020426" "00000468" "00" "59" "0" "59" "0" "c.59del" "" "p.(Pro20Argfs*76)" "r.(?)" "" "" "" "" "" "-" "0000020427" "00000464" "00" "-55" "0" "-55" "0" "c.-55C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020427" "00000465" "00" "174" "0" "174" "0" "n.174C>T" "" "" "" "" "" "" "" "" "-" "0000020427" "00000466" "00" "-55" "0" "-55" "0" "c.-55C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020427" "00000467" "00" "-55" "0" "-55" "0" "c.-55C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020427" "00000468" "00" "-55" "0" "-55" "0" "c.-55C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020428" "00000464" "00" "-76" "0" "-76" "0" "c.-76G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020428" "00000465" "00" "153" "0" "153" "0" "n.153G>C" "" "" "" "" "" "" "" "" "-" "0000020428" "00000466" "00" "-76" "0" "-76" "0" "c.-76G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020428" "00000467" "00" "-76" "0" "-76" "0" "c.-76G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020428" "00000468" "00" "-76" "0" "-76" "0" "c.-76G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020429" "00000464" "00" "-117" "0" "-116" "0" "c.-117_-116insC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020429" "00000465" "00" "112" "0" "113" "0" "n.112_113insC" "" "" "" "" "" "" "" "" "-" "0000020429" "00000466" "00" "-117" "0" "-116" "0" "c.-117_-116insC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020429" "00000467" "00" "-117" "0" "-116" "0" "c.-117_-116insC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020429" "00000468" "00" "-117" "0" "-116" "0" "c.-117_-116insC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020430" "00000464" "00" "-136" "0" "-136" "0" "c.-136T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020430" "00000465" "00" "93" "0" "93" "0" "n.93T>C" "" "" "" "" "" "" "" "" "-" "0000020430" "00000466" "00" "-136" "0" "-136" "0" "c.-136T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020430" "00000467" "00" "-136" "0" "-136" "0" "c.-136T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020430" "00000468" "00" "-136" "0" "-136" "0" "c.-136T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020431" "00000464" "00" "-206" "0" "-206" "0" "c.-206G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020431" "00000465" "00" "23" "0" "23" "0" "n.23G>A" "" "" "" "" "" "" "" "" "-" "0000020431" "00000466" "00" "-206" "0" "-206" "0" "c.-206G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020431" "00000467" "00" "-206" "0" "-206" "0" "c.-206G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020431" "00000468" "00" "-206" "0" "-206" "0" "c.-206G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026067" "00000464" "00" "1130" "0" "1130" "0" "c.*86G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026067" "00000465" "00" "1512" "0" "1512" "0" "n.1512G>T" "" "" "" "" "" "" "" "" "-" "0000026067" "00000466" "00" "1166" "0" "1166" "0" "c.*86G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026067" "00000467" "00" "1138" "-87" "1138" "-87" "c.1138-87G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026067" "00000468" "00" "1298" "0" "1298" "0" "c.*86G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026068" "00000464" "00" "1041" "0" "1041" "0" "c.1041del" "" "p.(Lys347Asnfs*34)" "r.(?)" "" "" "" "" "" "-" "0000026068" "00000465" "00" "1423" "0" "1423" "0" "n.1423del" "" "" "" "" "" "" "" "" "-" "0000026068" "00000466" "00" "1077" "0" "1077" "0" "c.1077del" "" "p.(Lys359Asnfs*34)" "r.(?)" "" "" "" "" "" "-" "0000026068" "00000467" "00" "1137" "72" "1137" "72" "c.1137+72del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026068" "00000468" "00" "1209" "0" "1209" "0" "c.1209del" "" "p.(Lys403Asnfs*34)" "r.(?)" "" "" "" "" "" "-" "0000026069" "00000464" "00" "1031" "0" "1034" "0" "c.1031_1034delinsTAT" "" "p.(Tyr344Leufs*37)" "r.(?)" "" "" "" "" "" "-" "0000026069" "00000465" "00" "1413" "0" "1416" "0" "n.1413_1416delinsTAT" "" "" "" "" "" "" "" "" "-" "0000026069" "00000466" "00" "1067" "0" "1070" "0" "c.1067_1070delinsTAT" "" "p.(Tyr356Leufs*37)" "r.(?)" "" "" "" "" "" "-" "0000026069" "00000467" "00" "1137" "62" "1137" "65" "c.1137+62_1137+65delinsTAT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026069" "00000468" "00" "1199" "0" "1202" "0" "c.1199_1202delinsTAT" "" "p.(Tyr400Leufs*37)" "r.(?)" "" "" "" "" "" "-" "0000026070" "00000464" "00" "985" "0" "987" "0" "c.985_987del" "" "p.(Gln329del)" "r.(?)" "" "" "" "" "" "-" "0000026070" "00000465" "00" "1367" "0" "1369" "0" "n.1367_1369del" "" "" "" "" "" "" "" "" "-" "0000026070" "00000466" "00" "1021" "0" "1023" "0" "c.1021_1023del" "" "p.(Gln341del)" "r.(?)" "" "" "" "" "" "-" "0000026070" "00000467" "00" "1137" "16" "1137" "18" "c.1137+16_1137+18del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026070" "00000468" "00" "1153" "0" "1155" "0" "c.1153_1155del" "" "p.(Gln385del)" "r.(?)" "" "" "" "" "" "-" "0000026071" "00000464" "00" "985" "0" "985" "0" "c.985C>T" "" "p.(Gln329*)" "r.(?)" "" "" "" "" "" "-" "0000026071" "00000465" "00" "1367" "0" "1367" "0" "n.1367C>T" "" "" "" "" "" "" "" "" "-" "0000026071" "00000466" "00" "1021" "0" "1021" "0" "c.1021C>T" "" "p.(Gln341*)" "r.(?)" "" "" "" "" "" "-" "0000026071" "00000467" "00" "1137" "16" "1137" "16" "c.1137+16C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026071" "00000468" "00" "1153" "0" "1153" "0" "c.1153C>T" "" "p.(Gln385*)" "r.(?)" "" "" "" "" "" "-" "0000026072" "00000464" "00" "919" "0" "919" "0" "c.919G>C" "" "p.(Gly307Arg)" "r.(?)" "" "" "" "" "" "-" "0000026072" "00000465" "00" "1301" "0" "1301" "0" "n.1301G>C" "" "" "" "" "" "" "" "" "-" "0000026072" "00000466" "00" "955" "0" "955" "0" "c.955G>C" "" "p.(Gly319Arg)" "r.(?)" "" "" "" "" "" "-" "0000026072" "00000467" "00" "1087" "0" "1087" "0" "c.1087G>C" "" "p.(Gly363Arg)" "r.(?)" "" "" "" "" "" "-" "0000026072" "00000468" "00" "1087" "0" "1087" "0" "c.1087G>C" "" "p.(Gly363Arg)" "r.(?)" "" "" "" "" "" "-" "0000026073" "00000464" "00" "866" "0" "867" "0" "c.866_867insG" "" "p.(Thr290Tyrfs*4)" "r.(?)" "" "" "" "" "" "-" "0000026073" "00000465" "00" "1248" "0" "1249" "0" "n.1248_1249insG" "" "" "" "" "" "" "" "" "-" "0000026073" "00000466" "00" "902" "0" "903" "0" "c.902_903insG" "" "p.(Thr302Tyrfs*4)" "r.(?)" "" "" "" "" "" "-" "0000026073" "00000467" "00" "1034" "0" "1035" "0" "c.1034_1035insG" "" "p.(Thr346Tyrfs*4)" "r.(?)" "" "" "" "" "" "-" "0000026073" "00000468" "00" "1034" "0" "1035" "0" "c.1034_1035insG" "" "p.(Thr346Tyrfs*4)" "r.(?)" "" "" "" "" "" "-" "0000026074" "00000464" "00" "865" "2" "865" "3" "c.865+2_865+3insT" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026074" "00000465" "00" "1247" "2" "1247" "3" "n.1247+2_1247+3insT" "" "" "" "" "" "" "" "" "-" "0000026074" "00000466" "00" "901" "2" "901" "3" "c.901+2_901+3insT" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026074" "00000467" "00" "1033" "2" "1033" "3" "c.1033+2_1033+3insT" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026074" "00000468" "00" "1033" "2" "1033" "3" "c.1033+2_1033+3insT" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026075" "00000464" "00" "865" "2" "865" "2" "c.865+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026075" "00000465" "00" "1247" "2" "1247" "2" "n.1247+2T>C" "" "" "" "" "" "" "" "" "-" "0000026075" "00000466" "00" "901" "2" "901" "2" "c.901+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026075" "00000467" "00" "1033" "2" "1033" "2" "c.1033+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026075" "00000468" "00" "1033" "2" "1033" "2" "c.1033+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026076" "00000464" "00" "814" "0" "815" "0" "c.814_815insG" "" "p.(Ala272Glyfs*22)" "r.(?)" "" "" "" "" "" "-" "0000026076" "00000465" "00" "1196" "0" "1197" "0" "n.1196_1197insG" "" "" "" "" "" "" "" "" "-" "0000026076" "00000466" "00" "850" "0" "851" "0" "c.850_851insG" "" "p.(Ala284Glyfs*22)" "r.(?)" "" "" "" "" "" "-" "0000026076" "00000467" "00" "982" "0" "983" "0" "c.982_983insG" "" "p.(Ala328Glyfs*22)" "r.(?)" "" "" "" "" "" "-" "0000026076" "00000468" "00" "982" "0" "983" "0" "c.982_983insG" "" "p.(Ala328Glyfs*22)" "r.(?)" "" "" "" "" "" "-" "0000026077" "00000464" "00" "814" "0" "814" "0" "c.814del" "" "p.(Ala272Profs*10)" "r.(?)" "" "" "" "" "" "-" "0000026077" "00000465" "00" "1196" "0" "1196" "0" "n.1196del" "" "" "" "" "" "" "" "" "-" "0000026077" "00000466" "00" "850" "0" "850" "0" "c.850del" "" "p.(Ala284Profs*10)" "r.(?)" "" "" "" "" "" "-" "0000026077" "00000467" "00" "982" "0" "982" "0" "c.982del" "" "p.(Ala328Profs*10)" "r.(?)" "" "" "" "" "" "-" "0000026077" "00000468" "00" "982" "0" "982" "0" "c.982del" "" "p.(Ala328Profs*10)" "r.(?)" "" "" "" "" "" "-" "0000026078" "00000464" "00" "790" "0" "790" "0" "c.790C>T" "" "p.(Arg264Cys)" "r.(?)" "" "" "" "" "" "-" "0000026078" "00000465" "00" "1172" "0" "1172" "0" "n.1172C>T" "" "" "" "" "" "" "" "" "-" "0000026078" "00000466" "00" "826" "0" "826" "0" "c.826C>T" "" "p.(Arg276Cys)" "r.(?)" "" "" "" "" "" "-" "0000026078" "00000467" "00" "958" "0" "958" "0" "c.958C>T" "" "p.(Arg320Cys)" "r.(?)" "" "" "" "" "" "-" "0000026078" "00000468" "00" "958" "0" "958" "0" "c.958C>T" "" "p.(Arg320Cys)" "r.(?)" "" "" "" "" "" "-" "0000026079" "00000464" "00" "707" "0" "707" "0" "c.707del" "" "p.(Leu236Argfs*21)" "r.(?)" "" "" "" "" "" "-" "0000026079" "00000465" "00" "1089" "0" "1089" "0" "n.1089del" "" "" "" "" "" "" "" "" "-" "0000026079" "00000466" "00" "743" "0" "743" "0" "c.743del" "" "p.(Leu248Argfs*21)" "r.(?)" "" "" "" "" "" "-" "0000026079" "00000467" "00" "875" "0" "875" "0" "c.875del" "" "p.(Leu292Argfs*21)" "r.(?)" "" "" "" "" "" "-" "0000026079" "00000468" "00" "875" "0" "875" "0" "c.875del" "" "p.(Leu292Argfs*21)" "r.(?)" "" "" "" "" "" "-" "0000026080" "00000464" "00" "681" "0" "682" "0" "c.681_682insT" "" "p.(Val228Cysfs*43)" "r.(?)" "" "" "" "" "" "-" "0000026080" "00000465" "00" "1063" "0" "1064" "0" "n.1063_1064insT" "" "" "" "" "" "" "" "" "-" "0000026080" "00000466" "00" "717" "0" "718" "0" "c.717_718insT" "" "p.(Val240Cysfs*43)" "r.(?)" "" "" "" "" "" "-" "0000026080" "00000467" "00" "849" "0" "850" "0" "c.849_850insT" "" "p.(Val284Cysfs*43)" "r.(?)" "" "" "" "" "" "-" "0000026080" "00000468" "00" "849" "0" "850" "0" "c.849_850insT" "" "p.(Val284Cysfs*43)" "r.(?)" "" "" "" "" "" "-" "0000026081" "00000464" "00" "626" "0" "626" "0" "c.626G>A" "" "p.(Arg209His)" "r.(?)" "" "" "" "" "" "-" "0000026081" "00000465" "00" "1008" "0" "1008" "0" "n.1008G>A" "" "" "" "" "" "" "" "" "-" "0000026081" "00000466" "00" "662" "0" "662" "0" "c.662G>A" "" "p.(Arg221His)" "r.(?)" "" "" "" "" "" "-" "0000026081" "00000467" "00" "794" "0" "794" "0" "c.794G>A" "" "p.(Arg265His)" "r.(?)" "" "" "" "" "" "-" "0000026081" "00000468" "00" "794" "0" "794" "0" "c.794G>A" "" "p.(Arg265His)" "r.(?)" "" "" "" "" "" "-" "0000026082" "00000464" "00" "625" "0" "625" "0" "c.625C>T" "" "p.(Arg209Cys)" "r.(?)" "" "" "" "" "" "-" "0000026082" "00000465" "00" "1007" "0" "1007" "0" "n.1007C>T" "" "" "" "" "" "" "" "" "-" "0000026082" "00000466" "00" "661" "0" "661" "0" "c.661C>T" "" "p.(Arg221Cys)" "r.(?)" "" "" "" "" "" "-" "0000026082" "00000467" "00" "793" "0" "793" "0" "c.793C>T" "" "p.(Arg265Cys)" "r.(?)" "" "" "" "" "" "-" "0000026082" "00000468" "00" "793" "0" "793" "0" "c.793C>T" "" "p.(Arg265Cys)" "r.(?)" "" "" "" "" "" "-" "0000026083" "00000464" "00" "584" "0" "584" "0" "c.584C>G" "" "p.(Pro195Arg)" "r.(?)" "" "" "" "" "" "-" "0000026083" "00000465" "00" "966" "0" "966" "0" "n.966C>G" "" "" "" "" "" "" "" "" "-" "0000026083" "00000466" "00" "620" "0" "620" "0" "c.620C>G" "" "p.(Pro207Arg)" "r.(?)" "" "" "" "" "" "-" "0000026083" "00000467" "00" "752" "0" "752" "0" "c.752C>G" "" "p.(Pro251Arg)" "r.(?)" "" "" "" "" "" "-" "0000026083" "00000468" "00" "752" "0" "752" "0" "c.752C>G" "" "p.(Pro251Arg)" "r.(?)" "" "" "" "" "" "-" "0000026084" "00000464" "00" "542" "0" "543" "0" "c.542_543insGCCGGT" "" "p.(Pro180_Val181dup)" "r.(?)" "" "" "" "" "" "-" "0000026084" "00000465" "00" "924" "0" "925" "0" "n.924_925insGCCGGT" "" "" "" "" "" "" "" "" "-" "0000026084" "00000466" "00" "578" "0" "579" "0" "c.578_579insGCCGGT" "" "p.(Pro192_Val193dup)" "r.(?)" "" "" "" "" "" "-" "0000026084" "00000467" "00" "710" "0" "711" "0" "c.710_711insGCCGGT" "" "p.(Pro236_Val237dup)" "r.(?)" "" "" "" "" "" "-" "0000026084" "00000468" "00" "710" "0" "711" "0" "c.710_711insGCCGGT" "" "p.(Pro236_Val237dup)" "r.(?)" "" "" "" "" "" "-" "0000026085" "00000464" "00" "527" "0" "528" "21" "c.527_528+21del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000026085" "00000465" "00" "909" "0" "910" "21" "n.909_910+21del" "" "" "" "" "" "" "" "" "-" "0000026085" "00000466" "00" "563" "0" "564" "21" "c.563_564+21del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000026085" "00000467" "00" "695" "0" "696" "21" "c.695_696+21del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000026085" "00000468" "00" "695" "0" "696" "21" "c.695_696+21del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000026086" "00000464" "00" "528" "1" "528" "1" "c.528+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026086" "00000465" "00" "910" "1" "910" "1" "n.910+1G>A" "" "" "" "" "" "" "" "" "-" "0000026086" "00000466" "00" "564" "1" "564" "1" "c.564+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026086" "00000467" "00" "696" "1" "696" "1" "c.696+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026086" "00000468" "00" "696" "1" "696" "1" "c.696+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026087" "00000464" "00" "496" "0" "496" "0" "c.496C>T" "" "p.(Arg166Cys)" "r.(?)" "" "" "" "" "" "-" "0000026087" "00000465" "00" "878" "0" "878" "0" "n.878C>T" "" "" "" "" "" "" "" "" "-" "0000026087" "00000466" "00" "532" "0" "532" "0" "c.532C>T" "" "p.(Arg178Cys)" "r.(?)" "" "" "" "" "" "-" "0000026087" "00000467" "00" "664" "0" "664" "0" "c.664C>T" "" "p.(Arg222Cys)" "r.(?)" "" "" "" "" "" "-" "0000026087" "00000468" "00" "664" "0" "664" "0" "c.664C>T" "" "p.(Arg222Cys)" "r.(?)" "" "" "" "" "" "-" "0000026088" "00000464" "00" "387" "0" "387" "0" "c.387C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026088" "00000465" "00" "769" "0" "769" "0" "n.769C>T" "" "" "" "" "" "" "" "" "-" "0000026088" "00000466" "00" "423" "0" "423" "0" "c.423C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026088" "00000467" "00" "555" "0" "555" "0" "c.555C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026088" "00000468" "00" "555" "0" "555" "0" "c.555C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026089" "00000464" "00" "347" "0" "347" "0" "c.347T>C" "" "p.(Leu116Pro)" "r.(?)" "" "" "" "" "" "-" "0000026089" "00000465" "00" "729" "0" "729" "0" "n.729T>C" "" "" "" "" "" "" "" "" "-" "0000026089" "00000466" "00" "383" "0" "383" "0" "c.383T>C" "" "p.(Leu128Pro)" "r.(?)" "" "" "" "" "" "-" "0000026089" "00000467" "00" "515" "0" "515" "0" "c.515T>C" "" "p.(Leu172Pro)" "r.(?)" "" "" "" "" "" "-" "0000026089" "00000468" "00" "515" "0" "515" "0" "c.515T>C" "" "p.(Leu172Pro)" "r.(?)" "" "" "" "" "" "-" "0000026090" "00000464" "00" "328" "0" "328" "0" "c.328C>T" "" "p.(Gln110*)" "r.(?)" "" "" "" "" "" "-" "0000026090" "00000465" "00" "710" "0" "710" "0" "n.710C>T" "" "" "" "" "" "" "" "" "-" "0000026090" "00000466" "00" "364" "0" "364" "0" "c.364C>T" "" "p.(Gln122*)" "r.(?)" "" "" "" "" "" "-" "0000026090" "00000467" "00" "496" "0" "496" "0" "c.496C>T" "" "p.(Gln166*)" "r.(?)" "" "" "" "" "" "-" "0000026090" "00000468" "00" "496" "0" "496" "0" "c.496C>T" "" "p.(Gln166*)" "r.(?)" "" "" "" "" "" "-" "0000026091" "00000464" "00" "180" "0" "181" "0" "c.180_181del" "" "p.(Ser61Alafs*12)" "r.(?)" "" "" "" "" "" "-" "0000026091" "00000465" "00" "562" "0" "563" "0" "n.562_563del" "" "" "" "" "" "" "" "" "-" "0000026091" "00000466" "00" "340" "-546" "340" "-545" "c.340-546_340-545del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026091" "00000467" "00" "348" "0" "349" "0" "c.348_349del" "" "p.(Ser117Alafs*12)" "r.(?)" "" "" "" "" "" "-" "0000026091" "00000468" "00" "348" "0" "349" "0" "c.348_349del" "" "p.(Ser117Alafs*12)" "r.(?)" "" "" "" "" "" "-" "0000026092" "00000464" "00" "112" "0" "112" "0" "c.112C>T" "" "p.(Arg38Trp)" "r.(?)" "" "" "" "" "" "-" "0000026092" "00000465" "00" "494" "0" "494" "0" "n.494C>T" "" "" "" "" "" "" "" "" "-" "0000026092" "00000466" "00" "280" "0" "280" "0" "c.280C>T" "" "p.(Arg94Trp)" "r.(?)" "" "" "" "" "" "-" "0000026092" "00000467" "00" "280" "0" "280" "0" "c.280C>T" "" "p.(Arg94Trp)" "r.(?)" "" "" "" "" "" "-" "0000026092" "00000468" "00" "280" "0" "280" "0" "c.280C>T" "" "p.(Arg94Trp)" "r.(?)" "" "" "" "" "" "-" "0000026093" "00000464" "00" "90" "230" "90" "230" "c.90+230G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026093" "00000465" "00" "445" "0" "445" "0" "n.445G>A" "" "" "" "" "" "" "" "" "-" "0000026093" "00000466" "00" "231" "0" "231" "0" "c.231G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026093" "00000467" "00" "231" "0" "231" "0" "c.231G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026093" "00000468" "00" "231" "0" "231" "0" "c.231G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026094" "00000464" "00" "90" "211" "90" "211" "c.90+211A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026094" "00000465" "00" "426" "0" "426" "0" "n.426A>C" "" "" "" "" "" "" "" "" "-" "0000026094" "00000466" "00" "212" "0" "212" "0" "c.212A>C" "" "p.(His71Pro)" "r.(?)" "" "" "" "" "" "-" "0000026094" "00000467" "00" "212" "0" "212" "0" "c.212A>C" "" "p.(His71Pro)" "r.(?)" "" "" "" "" "" "-" "0000026094" "00000468" "00" "212" "0" "212" "0" "c.212A>C" "" "p.(His71Pro)" "r.(?)" "" "" "" "" "" "-" "0000026095" "00000464" "00" "90" "164" "90" "164" "c.90+164del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026095" "00000465" "00" "379" "0" "379" "0" "n.379del" "" "" "" "" "" "" "" "" "-" "0000026095" "00000466" "00" "165" "0" "165" "0" "c.165del" "" "p.(Trp55*)" "r.(?)" "" "" "" "" "" "-" "0000026095" "00000467" "00" "165" "0" "165" "0" "c.165del" "" "p.(Trp55*)" "r.(?)" "" "" "" "" "" "-" "0000026095" "00000468" "00" "165" "0" "165" "0" "c.165del" "" "p.(Trp55*)" "r.(?)" "" "" "" "" "" "-" "0000026096" "00000464" "00" "90" "163" "90" "163" "c.90+163G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026096" "00000465" "00" "378" "0" "378" "0" "n.378G>A" "" "" "" "" "" "" "" "" "-" "0000026096" "00000466" "00" "164" "0" "164" "0" "c.164G>A" "" "p.(Trp55*)" "r.(?)" "" "" "" "" "" "-" "0000026096" "00000467" "00" "164" "0" "164" "0" "c.164G>A" "" "p.(Trp55*)" "r.(?)" "" "" "" "" "" "-" "0000026096" "00000468" "00" "164" "0" "164" "0" "c.164G>A" "" "p.(Trp55*)" "r.(?)" "" "" "" "" "" "-" "0000026097" "00000464" "00" "90" "143" "90" "147" "c.90+143_90+147del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026097" "00000465" "00" "358" "0" "362" "0" "n.358_362del" "" "" "" "" "" "" "" "" "-" "0000026097" "00000466" "00" "144" "0" "148" "0" "c.144_148del" "" "p.(Lys48Asnfs*18)" "r.(?)" "" "" "" "" "" "-" "0000026097" "00000467" "00" "144" "0" "148" "0" "c.144_148del" "" "p.(Lys48Asnfs*18)" "r.(?)" "" "" "" "" "" "-" "0000026097" "00000468" "00" "144" "0" "148" "0" "c.144_148del" "" "p.(Lys48Asnfs*18)" "r.(?)" "" "" "" "" "" "-" "0000026098" "00000464" "00" "90" "99" "90" "99" "c.90+99C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026098" "00000465" "00" "319" "-5" "319" "-5" "n.319-5C>T" "" "" "" "" "" "" "" "" "-" "0000026098" "00000466" "00" "100" "0" "100" "0" "c.100C>T" "" "p.(Arg34Cys)" "r.(?)" "" "" "" "" "" "-" "0000026098" "00000467" "00" "100" "0" "100" "0" "c.100C>T" "" "p.(Arg34Cys)" "r.(?)" "" "" "" "" "" "-" "0000026098" "00000468" "00" "100" "0" "100" "0" "c.100C>T" "" "p.(Arg34Cys)" "r.(?)" "" "" "" "" "" "-" "0000026099" "00000464" "00" "59" "0" "60" "0" "c.59_60insCCC" "" "p.(Pro20dup)" "r.(?)" "" "" "" "" "" "-" "0000026099" "00000465" "00" "287" "0" "288" "0" "n.287_288insCCC" "" "" "" "" "" "" "" "" "-" "0000026099" "00000466" "00" "59" "0" "60" "0" "c.59_60insCCC" "" "p.(Pro20dup)" "r.(?)" "" "" "" "" "" "-" "0000026099" "00000467" "00" "59" "0" "60" "0" "c.59_60insCCC" "" "p.(Pro20dup)" "r.(?)" "" "" "" "" "" "-" "0000026099" "00000468" "00" "59" "0" "60" "0" "c.59_60insCCC" "" "p.(Pro20dup)" "r.(?)" "" "" "" "" "" "-" "0000026100" "00000464" "00" "15" "0" "18" "0" "c.15_18del" "" "p.(Ser6Trpfs*33)" "r.(?)" "" "" "" "" "" "-" "0000026100" "00000465" "00" "243" "0" "246" "0" "n.243_246del" "" "" "" "" "" "" "" "" "-" "0000026100" "00000466" "00" "15" "0" "18" "0" "c.15_18del" "" "p.(Ser6Trpfs*89)" "r.(?)" "" "" "" "" "" "-" "0000026100" "00000467" "00" "15" "0" "18" "0" "c.15_18del" "" "p.(Ser6Trpfs*89)" "r.(?)" "" "" "" "" "" "-" "0000026100" "00000468" "00" "15" "0" "18" "0" "c.15_18del" "" "p.(Ser6Trpfs*89)" "r.(?)" "" "" "" "" "" "-" "0000026101" "00000464" "00" "-58" "0" "-58" "0" "c.-58C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026101" "00000465" "00" "171" "0" "171" "0" "n.171C>T" "" "" "" "" "" "" "" "" "-" "0000026101" "00000466" "00" "-58" "0" "-58" "0" "c.-58C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026101" "00000467" "00" "-58" "0" "-58" "0" "c.-58C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026101" "00000468" "00" "-58" "0" "-58" "0" "c.-58C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026102" "00000464" "00" "-66" "0" "-66" "0" "c.-66A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026102" "00000465" "00" "163" "0" "163" "0" "n.163A>G" "" "" "" "" "" "" "" "" "-" "0000026102" "00000466" "00" "-66" "0" "-66" "0" "c.-66A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026102" "00000467" "00" "-66" "0" "-66" "0" "c.-66A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026102" "00000468" "00" "-66" "0" "-66" "0" "c.-66A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0