### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HADHA) # 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}}" "HADHA" "hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit" "2" "p23" "unknown" "NC_000002.11" "UD_138431405204" "" "" "" "1" "1" "4801" "3030" "600890" "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 = 3 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "{{chrom}}" "00000786" "HADHA" "hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit" "001" "NM_000182.4" "" "NP_000173.2" "" "" "" "-130" "2907" "2292" "26467594" "26413504" "00001" "2013-11-12 21:40:59" "" "" "" "2" "00000787" "HADHA" "transcript variant X1" "002" "XM_005264275.1" "" "XP_005264332.1" "" "" "" "-201" "2535" "2154" "26467665" "26413738" "00001" "2013-11-12 21:40:59" "" "" "" "2" "00000788" "HADHA" "transcript variant X2" "003" "XM_005264276.1" "" "XP_005264333.1" "" "" "" "-150" "2412" "2031" "26467487" "26413738" "00001" "2013-11-12 21:40:59" "" "" "" "2" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00417" "609015" "TRIFUNCTIONAL PROTEIN DEFICIENCY" "609015" "" "" "" "00001" "2014-04-08 14:00:00" "" "" "" "00474" "LCHAD" "LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY" "609016" "" "" "" "00001" "2014-04-10 16:52:09" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "HADHA" "00417" "HADHA" "00474" ## 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 = 130 "{{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}}" "0000000790" "0" "99" "2" "26417450" "26417450" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 23:41:35" "HADHA_000001" "g.26417450G>A" "" "{PMID:8865274:8865274}" "" "rs137852771" "subst" "0" "; clinVar; Ensembl;" "1.330" "" "" "" "" "MSCV_0000790" "" "0000000791" "0" "99" "2" "26418053" "26418053" "subst" "35" "0.000384438" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-06-09 13:24:57" "HADHA_000002" "g.26418053C>G" "" "{PMID:9003853:9003853};{PMID:7811722:7811722};{PMID:7846063:7846063};{PMID:10518281:10518281};{PMID:8770876:8770876}" "" "rs137852769" "subst" "0" "; clinVar; Ensembl;" "5.290" "" "" "" "" "MSCV_0000791" "" "0000000792" "0" "99" "2" "26427019" "26427019" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:43:46" "HADHA_000003" "g.26427019G>A" "" "{PMID:7846063:7846063}" "" "rs137852770" "subst" "0" "; clinVar; Ensembl;" "5.000" "" "" "" "" "MSCV_0000792" "" "0000000793" "0" "99" "2" "26432709" "26432709" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 01:07:51" "HADHA_000004" "g.26432709A>G" "" "{PMID:9266371:9266371}" "" "rs137852772" "subst" "0" "; clinVar; Ensembl;" "6.060" "" "" "" "" "MSCV_0000793" "" "0000000794" "0" "99" "2" "26437316" "26437316" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:43:48" "HADHA_000005" "g.26437316A>T" "" "{PMID:2019931:2019931};{PMID:9739053:9739053}" "" "rs137852774" "subst" "0" ";" "5.430" "" "" "" "" "MSCV_0000794" "" "0000000795" "0" "99" "2" "26437359" "26437359" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-07-02 10:58:08" "HADHA_000006" "g.26437359G>A" "" "{PMID:9739053:9739053}" "" "rs137852775" "subst" "0" ";" "3.440" "" "" "" "" "MSCV_0000795" "" "0000000796" "0" "99" "2" "26437385" "26437385" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:43:49" "HADHA_000007" "g.26437385A>T" "" "{PMID:9739053:9739053}" "" "rs137852773" "subst" "0" ";" "5.640" "" "" "" "" "MSCV_0000796" "" "0000018900" "0" "33" "2" "26413609" "26413609" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:01" "HADHA_000032" "g.26413609T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018900" "" "0000018901" "0" "55" "2" "26413625" "26413625" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:05" "HADHA_000033" "g.26413625C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018901" "" "0000018902" "0" "55" "2" "26413630" "26413630" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:08" "HADHA_000034" "g.26413630C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018902" "" "0000018903" "0" "00" "2" "26413654" "26413655" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:11" "HADHA_000035" "g.26413654_26413655del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018903" "" "0000018904" "0" "55" "2" "26413714" "26413714" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:15" "HADHA_000036" "g.26413714G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018904" "" "0000018905" "0" "55" "2" "26413730" "26413730" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:18" "HADHA_000037" "g.26413730G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018905" "" "0000018906" "0" "00" "2" "26413743" "26413744" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:21" "HADHA_000038" "g.26413743_26413744del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018906" "" "0000018907" "0" "55" "2" "26413764" "26413764" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:23" "HADHA_000039" "g.26413764G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018907" "" "0000018908" "0" "33" "2" "26413817" "26413817" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:26" "HADHA_000040" "g.26413817C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018908" "" "0000018909" "0" "11" "2" "26413917" "26413917" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:29" "HADHA_000041" "g.26413917C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018909" "" "0000018910" "0" "77" "2" "26414182" "26414183" "ins" "35" "0.000159744" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:32" "HADHA_000042" "g.26414182_26414183insTGTT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018910" "" "0000018911" "0" "55" "2" "26414272" "26414272" "subst" "35" "0.00030755" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:35" "HADHA_000043" "g.26414272G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018911" "" "0000018912" "0" "77" "2" "26414350" "26414350" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:38" "HADHA_000044" "g.26414350A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018912" "" "0000018913" "0" "99" "2" "26414351" "26414351" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:41" "HADHA_000045" "g.26414351C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018913" "" "0000018914" "0" "55" "2" "26414385" "26414385" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:50" "HADHA_000046" "g.26414385C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018914" "" "0000018915" "0" "77" "2" "26414427" "26414427" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:53" "HADHA_000047" "g.26414427C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018915" "" "0000018916" "0" "77" "2" "26415180" "26415198" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:55" "HADHA_000048" "g.26415180_26415198del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018916" "" "0000018917" "0" "77" "2" "26415198" "26415198" "subst" "35" "0.00507458" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:58" "HADHA_000049" "g.26415198G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018917" "" "0000018918" "0" "99" "2" "26415212" "26415212" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:14:01" "HADHA_000050" "g.26415212del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018918" "" "0000018919" "0" "77" "2" "26415261" "26415264" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:14:07" "HADHA_000052" "g.26415261_26415264del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018919" "" "0000018920" "0" "99" "2" "26415261" "26415261" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-03 07:37:54" "HADHA_000051" "g.26415261G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018920" "" "0000018921" "0" "55" "2" "26415267" "26415267" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:14:10" "HADHA_000053" "g.26415267T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018921" "" "0000018922" "0" "55" "2" "26416502" "26416502" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-11-20 13:32:32" "HADHA_000054" "g.26416502C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018922" "" "0000018923" "0" "99" "2" "26416520" "26416520" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-07 08:15:57" "HADHA_000055" "g.26416520del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018923" "" "0000018924" "0" "77" "2" "26416537" "26416538" "del" "35" "0.000079885" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:46:18" "HADHA_000072" "g.26416537_26416538del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018924" "" "0000018925" "0" "55" "2" "26416537" "26416537" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:14:19" "HADHA_000056" "g.26416537A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018925" "" "0000018926" "0" "99" "2" "26416643" "26416643" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:46:21" "HADHA_000073" "g.26416643T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018926" "" "0000018927" "0" "77" "2" "26416647" "26416647" "subst" "35" "0.00407504" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:46:24" "HADHA_000074" "g.26416647C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018927" "" "0000018928" "0" "77" "2" "26416654" "26416654" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:46:27" "HADHA_000075" "g.26416654C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018928" "" "0000018929" "0" "55" "2" "26416655" "26416655" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:46:29" "HADHA_000076" "g.26416655G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018929" "" "0000018930" "0" "99" "2" "26417450" "26417450" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:46:32" "HADHA_000001" "g.26417450G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000790" "" "0000018931" "0" "55" "2" "26417473" "26417473" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-11-28 00:47:56" "HADHA_000077" "g.26417473G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018931" "" "0000018932" "0" "33" "2" "26417950" "26417950" "subst" "35" "0.0204521" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:46:38" "HADHA_000078" "g.26417950C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018932" "" "0000018933" "0" "77" "2" "26417991" "26417991" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:46:42" "HADHA_000079" "g.26417991del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018933" "" "0000018934" "0" "99" "2" "26418053" "26418053" "subst" "35" "0.000384438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:46:44" "HADHA_000002" "g.26418053C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000791" "" "0000018935" "0" "33" "2" "26424008" "26424008" "subst" "35" "0.0243734" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-07-15 11:52:21" "HADHA_000057" "g.26424008C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018935" "" "0000018936" "0" "77" "2" "26424065" "26424066" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:21:03" "HADHA_000058" "g.26424065_26424066del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018936" "" "0000018937" "0" "77" "2" "26424173" "26424173" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:27:44" "HADHA_000008" "g.26424173T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018937" "" "0000018938" "0" "77" "2" "26424190" "26424190" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-26 15:51:24" "HADHA_000009" "g.26424190C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018938" "" "0000018939" "0" "77" "2" "26426939" "26426939" "subst" "35" "0.000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:27:54" "HADHA_000010" "g.26426939C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018939" "" "0000018940" "0" "77" "2" "26426949" "26426949" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:27:57" "HADHA_000011" "g.26426949del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018940" "" "0000018941" "0" "99" "2" "26427019" "26427019" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:28:00" "HADHA_000003" "g.26427019G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000792" "" "0000018942" "0" "77" "2" "26427059" "26427068" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:28:03" "HADHA_000012" "g.26427059_26427068del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018942" "" "0000018943" "0" "33" "2" "26432662" "26432662" "subst" "35" "0.0227587" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:28:07" "HADHA_000013" "g.26432662G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018943" "" "0000018944" "0" "77" "2" "26432682" "26432682" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:28:09" "HADHA_000014" "g.26432682del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018944" "" "0000018945" "0" "99" "2" "26432709" "26432709" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:28:12" "HADHA_000004" "g.26432709A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000793" "" "0000018946" "0" "55" "2" "26435482" "26435482" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:28:15" "HADHA_000015" "g.26435482C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018946" "" "0000018947" "0" "99" "2" "26435497" "26435497" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:28:18" "HADHA_000016" "g.26435497T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018947" "" "0000018948" "0" "77" "2" "26437316" "26437316" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-05-08 04:15:41" "HADHA_000005" "g.26437316A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000794" "" "0000018949" "0" "99" "2" "26437359" "26437359" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-05-05 05:07:35" "HADHA_000006" "g.26437359G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000795" "" "0000018950" "0" "55" "2" "26437372" "26437372" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:28:29" "HADHA_000017" "g.26437372C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018950" "" "0000018951" "0" "99" "2" "26437385" "26437385" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:28:34" "HADHA_000007" "g.26437385A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000796" "" "0000018952" "0" "55" "2" "26437421" "26437421" "subst" "51" "0.000461326" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-29 04:00:24" "HADHA_000018" "g.26437421G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018952" "" "0000018953" "0" "77" "2" "26438018" "26438018" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:28:40" "HADHA_000019" "g.26438018G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018953" "" "0000018954" "0" "55" "2" "26453054" "26453054" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:28:43" "HADHA_000020" "g.26453054A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018954" "" "0000018955" "0" "99" "2" "26453058" "26453058" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-26 00:18:10" "HADHA_000021" "g.26453058A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018955" "" "0000018956" "0" "33" "2" "26453147" "26453147" "subst" "35" "0.00115331" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:28:49" "HADHA_000022" "g.26453147C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018956" "" "0000018957" "0" "55" "2" "26453151" "26453151" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:28:52" "HADHA_000023" "g.26453151A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018957" "" "0000018958" "0" "11" "2" "26455019" "26455020" "ins" "35" "0.00607029" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:28:55" "HADHA_000024" "g.26455019_26455020insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018958" "" "0000018959" "0" "55" "2" "26455041" "26455041" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:28:58" "HADHA_000025" "g.26455041C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018959" "" "0000018960" "0" "77" "2" "26455086" "26455086" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:29:01" "HADHA_000026" "g.26455086del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018960" "" "0000018961" "0" "11" "2" "26455127" "26455127" "subst" "35" "0.161387" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:29:05" "HADHA_000027" "g.26455127G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018961" "" "0000018962" "0" "55" "2" "26455160" "26455160" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:21:06" "HADHA_000059" "g.26455160G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018962" "" "0000018963" "0" "77" "2" "26457084" "26457084" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:21:09" "HADHA_000060" "g.26457084C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018963" "" "0000018964" "0" "77" "2" "26457135" "26457135" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:21:12" "HADHA_000061" "g.26457135T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018964" "" "0000018965" "0" "99" "2" "26459759" "26459763" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-08-27 00:25:13" "HADHA_000062" "g.26459759_26459763del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018965" "" "0000018966" "0" "33" "2" "26459773" "26459773" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:21:18" "HADHA_000063" "g.26459773G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018966" "" "0000018967" "0" "77" "2" "26459797" "26459797" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:21:40" "HADHA_000064" "g.26459797C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018967" "" "0000018968" "0" "99" "2" "26461799" "26461799" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:21:43" "HADHA_000065" "g.26461799T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018968" "" "0000018969" "0" "99" "2" "26461801" "26461801" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:21:46" "HADHA_000066" "g.26461801C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018969" "" "0000018970" "0" "99" "2" "26461825" "26461825" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:21:49" "HADHA_000067" "g.26461825G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018970" "" "0000018971" "0" "55" "2" "26462000" "26462000" "subst" "35" "0.000307598" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:21:52" "HADHA_000068" "g.26462000G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018971" "" "0000018972" "0" "77" "2" "26462021" "26462021" "subst" "35" "0.00346101" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:21:55" "HADHA_000069" "g.26462021A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018972" "" "0000018973" "0" "55" "2" "26467449" "26467449" "subst" "35" "0.000308261" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:21:58" "HADHA_000070" "g.26467449C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018973" "" "0000018974" "0" "77" "2" "26467464" "26467464" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-07 17:56:07" "HADHA_000071" "g.26467464T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018974" "" "0000018975" "0" "55" "2" "26467501" "26467501" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:17" "HADHA_000028" "g.26467501A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018975" "" "0000018976" "0" "00" "2" "26467632" "26467632" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:21" "HADHA_000029" "g.26467632del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018976" "" "0000018977" "0" "33" "2" "26467653" "26467653" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:25" "HADHA_000030" "g.26467653C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018977" "" "0000018978" "0" "55" "2" "26467665" "26467665" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:29" "HADHA_000031" "g.26467665G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018978" "" "0000025634" "0" "00" "2" "26414134" "26414135" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:03:21" "HADHA_000116" "g.26414134_26414135insTTGT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025635" "0" "00" "2" "26414170" "26414170" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:03:46" "HADHA_000117" "g.26414170G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025636" "0" "00" "2" "26414183" "26414184" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:48:51" "HADHA_000081" "g.26414183_26414184del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025637" "0" "00" "2" "26414182" "26414183" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:48:37" "HADHA_000080" "g.26414182_26414183insTGT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025638" "0" "00" "2" "26414189" "26414189" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:49:05" "HADHA_000082" "g.26414189del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025639" "0" "00" "2" "26414191" "26414191" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:49:20" "HADHA_000083" "g.26414191A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025640" "0" "00" "2" "26414367" "26414367" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:49:34" "HADHA_000084" "g.26414367G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025641" "0" "00" "2" "26414384" "26414384" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:49:48" "HADHA_000085" "g.26414384A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025642" "0" "00" "2" "26414391" "26414391" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:50:02" "HADHA_000086" "g.26414391C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025643" "0" "00" "2" "26414396" "26414396" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:50:17" "HADHA_000087" "g.26414396T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025644" "0" "00" "2" "26414439" "26414439" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:50:35" "HADHA_000088" "g.26414439del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025645" "0" "00" "2" "26414472" "26414472" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:50:49" "HADHA_000089" "g.26414472del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025646" "0" "00" "2" "26415178" "26415178" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:51:04" "HADHA_000090" "g.26415178C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025647" "0" "00" "2" "26415219" "26415220" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-06-10 05:43:26" "HADHA_000091" "g.26415219_26415220insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025648" "0" "00" "2" "26415259" "26415260" "ins" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-06-01 23:40:25" "HADHA_000092" "g.26415259_26415260insTGA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025649" "0" "00" "2" "26416503" "26416503" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:51:48" "HADHA_000093" "g.26416503G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025650" "0" "00" "2" "26416516" "26416517" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:52:03" "HADHA_000094" "g.26416516_26416517del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025651" "0" "00" "2" "26416619" "26416619" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:52:19" "HADHA_000095" "g.26416619A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025652" "0" "00" "2" "26416621" "26416623" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:52:35" "HADHA_000096" "g.26416621_26416623del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025653" "0" "00" "2" "26417491" "26417491" "subst" "51" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-23 23:41:35" "HADHA_000097" "g.26417491T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025654" "0" "00" "2" "26417955" "26417959" "del" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-23 23:41:36" "HADHA_000098" "g.26417955_26417959del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025655" "0" "00" "2" "26418088" "26418088" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-27 10:18:29" "HADHA_000099" "g.26418088T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025656" "0" "00" "2" "26420559" "26420559" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:53:39" "HADHA_000100" "g.26420559C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025657" "0" "00" "2" "26426925" "26426926" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:53:55" "HADHA_000101" "g.26426925_26426926insCTTA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025658" "0" "00" "2" "26426955" "26426955" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:54:11" "HADHA_000102" "g.26426955C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025659" "0" "00" "2" "26426956" "26426956" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-05 18:19:22" "HADHA_000103" "g.26426956G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025660" "0" "00" "2" "26432752" "26432752" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:54:44" "HADHA_000104" "g.26432752C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025661" "0" "00" "2" "26435439" "26435439" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:04:08" "HADHA_000118" "g.26435439C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025662" "0" "00" "2" "26435459" "26435459" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:04:28" "HADHA_000119" "g.26435459C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025663" "0" "00" "2" "26437316" "26437316" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:04:47" "HADHA_000120" "g.26437316A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025664" "0" "00" "2" "26437385" "26437386" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:05:04" "HADHA_000121" "g.26437385_26437386insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025665" "0" "00" "2" "26437429" "26437431" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:05:23" "HADHA_000122" "g.26437429_26437431del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025666" "0" "00" "2" "26437431" "26437431" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:05:42" "HADHA_000123" "g.26437431C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025667" "0" "00" "2" "26438045" "26438045" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:46:24" "HADHA_000105" "g.26438045C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025668" "0" "00" "2" "26453078" "26453079" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:46:38" "HADHA_000106" "g.26453078_26453079insGTCAACCAGTCC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025669" "0" "00" "2" "26453084" "26453084" "subst" "35" "0.00030755" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:46:51" "HADHA_000107" "g.26453084C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025670" "0" "00" "2" "26453164" "26453165" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:47:04" "HADHA_000108" "g.26453164_26453165insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025671" "0" "00" "2" "26457224" "26457224" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:47:17" "HADHA_000109" "g.26457224C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025672" "0" "00" "2" "26461852" "26461853" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:47:31" "HADHA_000110" "g.26461852_26461853insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025673" "0" "00" "2" "26462007" "26462007" "del" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-07 06:14:03" "HADHA_000111" "g.26462007del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025674" "0" "00" "2" "26467401" "26467401" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-07 02:17:30" "HADHA_000112" "g.26467401G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025675" "0" "00" "2" "26467440" "26467441" "ins" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-03 20:24:17" "HADHA_000113" "g.26467440_26467441insGCCAATCGCCCGGCAGGCC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025676" "0" "00" "2" "26467458" "26467460" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:48:24" "HADHA_000114" "g.26467458_26467460del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025677" "0" "00" "2" "26467462" "26467462" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:48:37" "HADHA_000115" "g.26467462C>T" "" "" "" "" "" "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 = 390 "{{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}}" "0000000790" "00000786" "99" "1678" "0" "1678" "0" "c.1678C>T" "16/20" "p.(Arg560*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000790" "00000787" "99" "1540" "0" "1540" "0" "c.1540C>T" "16/20" "p.(Arg514*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000790" "00000788" "99" "1417" "0" "1417" "0" "c.1417C>T" "15/19" "p.(Arg473*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000791" "00000786" "99" "1528" "0" "1528" "0" "c.1528G>C" "15/20" "p.(Glu510Gln)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000000791" "00000787" "99" "1390" "0" "1390" "0" "c.1390G>C" "15/20" "p.(Glu464Gln)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000791" "00000788" "99" "1267" "0" "1267" "0" "c.1267G>C" "14/19" "p.(Glu423Gln)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000792" "00000786" "99" "1132" "0" "1132" "0" "c.1132C>T" "12/20" "p.(Gln378*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000792" "00000787" "99" "994" "0" "994" "0" "c.994C>T" "12/20" "p.(Gln332*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000792" "00000788" "99" "871" "0" "871" "0" "c.871C>T" "11/19" "p.(Gln291*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000793" "00000786" "99" "1025" "0" "1025" "0" "c.1025T>C" "11/20" "p.(Leu342Pro)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000793" "00000787" "99" "887" "0" "887" "0" "c.887T>C" "11/20" "p.(Leu296Pro)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000793" "00000788" "99" "764" "0" "764" "0" "c.764T>C" "10/19" "p.(Leu255Pro)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000794" "00000786" "55" "914" "0" "914" "0" "c.914T>A" "9/20" "p.(Ile305Asn)" "r.(?)" "probably_damaging(0.98)" "" "missense_variant" "" "" "deleterious(0)" "0000000794" "00000787" "55" "776" "0" "776" "0" "c.776T>A" "9/20" "p.(Ile259Asn)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000794" "00000788" "55" "653" "0" "653" "0" "c.653T>A" "8/19" "p.(Ile218Asn)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000795" "00000786" "55" "871" "0" "871" "0" "c.871C>T" "9/20" "p.(Arg291*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000795" "00000787" "55" "733" "0" "733" "0" "c.733C>T" "9/20" "p.(Arg245*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000795" "00000788" "55" "610" "0" "610" "0" "c.610C>T" "8/19" "p.(Arg204*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000796" "00000786" "55" "845" "0" "845" "0" "c.845T>A" "9/20" "p.(Val282Asp)" "r.(?)" "possibly_damaging(0.781)" "" "missense_variant" "" "" "deleterious(0)" "0000000796" "00000787" "55" "707" "0" "707" "0" "c.707T>A" "9/20" "p.(Val236Asp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000796" "00000788" "55" "584" "0" "584" "0" "c.584T>A" "8/19" "p.(Val195Asp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000018900" "00000786" "00" "2802" "0" "2802" "0" "c.*510A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018900" "00000787" "00" "2535" "129" "2535" "129" "c.*510A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018900" "00000788" "00" "2412" "129" "2412" "129" "c.*510A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018901" "00000786" "00" "2786" "0" "2786" "0" "c.*494G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018901" "00000787" "00" "2535" "113" "2535" "113" "c.*494G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018901" "00000788" "00" "2412" "113" "2412" "113" "c.*494G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018902" "00000786" "00" "2781" "0" "2781" "0" "c.*489G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018902" "00000787" "00" "2535" "108" "2535" "108" "c.*489G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018902" "00000788" "00" "2412" "108" "2412" "108" "c.*489G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018903" "00000786" "00" "2756" "0" "2757" "0" "c.*464_*465del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018903" "00000787" "00" "2535" "83" "2535" "84" "c.*464_*465del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018903" "00000788" "00" "2412" "83" "2412" "84" "c.*464_*465del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018904" "00000786" "00" "2697" "0" "2697" "0" "c.*405C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018904" "00000787" "00" "2535" "24" "2535" "24" "c.*405C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018904" "00000788" "00" "2412" "24" "2412" "24" "c.*405C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018905" "00000786" "00" "2681" "0" "2681" "0" "c.*389C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018905" "00000787" "00" "2535" "8" "2535" "8" "c.*389C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018905" "00000788" "00" "2412" "8" "2412" "8" "c.*389C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018906" "00000786" "00" "2667" "0" "2668" "0" "c.*375_*376del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018906" "00000787" "00" "2529" "0" "2530" "0" "c.*375_*376del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018906" "00000788" "00" "2406" "0" "2407" "0" "c.*375_*376del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018907" "00000786" "00" "2647" "0" "2647" "0" "c.*355C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018907" "00000787" "00" "2509" "0" "2509" "0" "c.*355C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018907" "00000788" "00" "2386" "0" "2386" "0" "c.*355C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018908" "00000786" "00" "2594" "0" "2594" "0" "c.*302G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018908" "00000787" "00" "2456" "0" "2456" "0" "c.*302G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018908" "00000788" "00" "2333" "0" "2333" "0" "c.*302G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018909" "00000786" "00" "2494" "0" "2494" "0" "c.*202G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018909" "00000787" "00" "2356" "0" "2356" "0" "c.*202G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018909" "00000788" "00" "2233" "0" "2233" "0" "c.*202G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018910" "00000786" "00" "2228" "0" "2229" "0" "c.2228_2229insAACA" "" "p.(Phe744Thrfs*10)" "r.(?)" "" "" "" "" "" "-" "0000018910" "00000787" "00" "2090" "0" "2091" "0" "c.2090_2091insAACA" "" "p.(Phe698Thrfs*10)" "r.(?)" "" "" "" "" "" "-" "0000018910" "00000788" "00" "1967" "0" "1968" "0" "c.1967_1968insAACA" "" "p.(Phe657Thrfs*10)" "r.(?)" "" "" "" "" "" "-" "0000018911" "00000786" "00" "2147" "-8" "2147" "-8" "c.2147-8C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018911" "00000787" "00" "2009" "-8" "2009" "-8" "c.2009-8C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018911" "00000788" "00" "1886" "-8" "1886" "-8" "c.1886-8C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018912" "00000786" "00" "2146" "2" "2146" "2" "c.2146+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018912" "00000787" "00" "2008" "2" "2008" "2" "c.2008+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018912" "00000788" "00" "1885" "2" "1885" "2" "c.1885+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018913" "00000786" "00" "2146" "1" "2146" "1" "c.2146+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018913" "00000787" "00" "2008" "1" "2008" "1" "c.2008+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018913" "00000788" "00" "1885" "1" "1885" "1" "c.1885+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018914" "00000786" "00" "2113" "0" "2113" "0" "c.2113G>A" "" "p.(Val705Ile)" "r.(?)" "" "" "" "" "" "-" "0000018914" "00000787" "00" "1975" "0" "1975" "0" "c.1975G>A" "" "p.(Val659Ile)" "r.(?)" "" "" "" "" "" "-" "0000018914" "00000788" "00" "1852" "0" "1852" "0" "c.1852G>A" "" "p.(Val618Ile)" "r.(?)" "" "" "" "" "" "-" "0000018915" "00000786" "00" "2071" "0" "2071" "0" "c.2071G>T" "" "p.(Glu691*)" "r.(?)" "" "" "" "" "" "-" "0000018915" "00000787" "00" "1933" "0" "1933" "0" "c.1933G>T" "" "p.(Glu645*)" "r.(?)" "" "" "" "" "" "-" "0000018915" "00000788" "00" "1810" "0" "1810" "0" "c.1810G>T" "" "p.(Glu604*)" "r.(?)" "" "" "" "" "" "-" "0000018916" "00000786" "00" "1981" "0" "1999" "0" "c.1981_1999del" "" "p.(Leu661Serfs*12)" "r.(?)" "" "" "" "" "" "-" "0000018916" "00000787" "00" "1843" "0" "1861" "0" "c.1843_1861del" "" "p.(Leu615Serfs*12)" "r.(?)" "" "" "" "" "" "-" "0000018916" "00000788" "00" "1720" "0" "1738" "0" "c.1720_1738del" "" "p.(Leu574Serfs*12)" "r.(?)" "" "" "" "" "" "-" "0000018917" "00000786" "00" "1981" "0" "1981" "0" "c.1981C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018917" "00000787" "00" "1843" "0" "1843" "0" "c.1843C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018917" "00000788" "00" "1720" "0" "1720" "0" "c.1720C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018918" "00000786" "00" "1967" "0" "1967" "0" "c.1967del" "" "p.(Leu656*)" "r.(?)" "" "" "" "" "" "-" "0000018918" "00000787" "00" "1829" "0" "1829" "0" "c.1829del" "" "p.(Leu610*)" "r.(?)" "" "" "" "" "" "-" "0000018918" "00000788" "00" "1706" "0" "1706" "0" "c.1706del" "" "p.(Leu569*)" "r.(?)" "" "" "" "" "" "-" "0000018919" "00000786" "00" "1915" "0" "1918" "0" "c.1915_1918del" "" "p.(Tyr639Argfs*4)" "r.(?)" "" "" "" "" "" "-" "0000018919" "00000787" "00" "1777" "0" "1780" "0" "c.1777_1780del" "" "p.(Tyr593Argfs*4)" "r.(?)" "" "" "" "" "" "-" "0000018919" "00000788" "00" "1654" "0" "1657" "0" "c.1654_1657del" "" "p.(Tyr552Argfs*4)" "r.(?)" "" "" "" "" "" "-" "0000018920" "00000786" "00" "1918" "0" "1918" "0" "c.1918C>T" "" "p.(Gln640*)" "r.(?)" "" "" "" "" "" "-" "0000018920" "00000787" "00" "1780" "0" "1780" "0" "c.1780C>T" "" "p.(Gln594*)" "r.(?)" "" "" "" "" "" "-" "0000018920" "00000788" "00" "1657" "0" "1657" "0" "c.1657C>T" "" "p.(Gln553*)" "r.(?)" "" "" "" "" "" "-" "0000018921" "00000786" "00" "1912" "0" "1912" "0" "c.1912A>G" "" "p.(Ile638Val)" "r.(?)" "" "" "" "" "" "-" "0000018921" "00000787" "00" "1774" "0" "1774" "0" "c.1774A>G" "" "p.(Ile592Val)" "r.(?)" "" "" "" "" "" "-" "0000018921" "00000788" "00" "1651" "0" "1651" "0" "c.1651A>G" "" "p.(Ile551Val)" "r.(?)" "" "" "" "" "" "-" "0000018922" "00000786" "00" "1829" "0" "1829" "0" "c.1829G>A" "" "p.(Arg610Gln)" "r.(?)" "" "" "" "" "" "-" "0000018922" "00000787" "00" "1691" "0" "1691" "0" "c.1691G>A" "" "p.(Arg564Gln)" "r.(?)" "" "" "" "" "" "-" "0000018922" "00000788" "00" "1568" "0" "1568" "0" "c.1568G>A" "" "p.(Arg523Gln)" "r.(?)" "" "" "" "" "" "-" "0000018923" "00000786" "00" "1811" "0" "1811" "0" "c.1811del" "" "p.(Gly604Alafs*16)" "r.(?)" "" "" "" "" "" "-" "0000018923" "00000787" "00" "1673" "0" "1673" "0" "c.1673del" "" "p.(Gly558Alafs*16)" "r.(?)" "" "" "" "" "" "-" "0000018923" "00000788" "00" "1550" "0" "1550" "0" "c.1550del" "" "p.(Gly517Alafs*16)" "r.(?)" "" "" "" "" "" "-" "0000018924" "00000786" "00" "1793" "0" "1794" "0" "c.1793_1794del" "" "p.(His598Argfs*33)" "r.(?)" "" "" "" "" "" "-" "0000018924" "00000787" "00" "1655" "0" "1656" "0" "c.1655_1656del" "" "p.(His552Argfs*33)" "r.(?)" "" "" "" "" "" "-" "0000018924" "00000788" "00" "1532" "0" "1533" "0" "c.1532_1533del" "" "p.(His511Argfs*33)" "r.(?)" "" "" "" "" "" "-" "0000018925" "00000786" "00" "1794" "0" "1794" "0" "c.1794T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018925" "00000787" "00" "1656" "0" "1656" "0" "c.1656T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018925" "00000788" "00" "1533" "0" "1533" "0" "c.1533T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018926" "00000786" "00" "1690" "-2" "1690" "-2" "c.1690-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018926" "00000787" "00" "1552" "-2" "1552" "-2" "c.1552-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018926" "00000788" "00" "1429" "-2" "1429" "-2" "c.1429-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018927" "00000786" "00" "1690" "-6" "1690" "-6" "c.1690-6G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018927" "00000787" "00" "1552" "-6" "1552" "-6" "c.1552-6G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018927" "00000788" "00" "1429" "-6" "1429" "-6" "c.1429-6G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018928" "00000786" "00" "1690" "-13" "1690" "-13" "c.1690-13G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018928" "00000787" "00" "1552" "-13" "1552" "-13" "c.1552-13G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018928" "00000788" "00" "1429" "-13" "1429" "-13" "c.1429-13G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018929" "00000786" "00" "1690" "-14" "1690" "-14" "c.1690-14C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018929" "00000787" "00" "1552" "-14" "1552" "-14" "c.1552-14C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018929" "00000788" "00" "1429" "-14" "1429" "-14" "c.1429-14C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018930" "00000786" "00" "1678" "0" "1678" "0" "c.1678C>T" "" "p.(Arg560*)" "r.(?)" "" "" "" "" "" "-" "0000018930" "00000787" "00" "1540" "0" "1540" "0" "c.1540C>T" "" "p.(Arg514*)" "r.(?)" "" "" "" "" "" "-" "0000018930" "00000788" "00" "1417" "0" "1417" "0" "c.1417C>T" "" "p.(Arg473*)" "r.(?)" "" "" "" "" "" "-" "0000018931" "00000786" "00" "1655" "0" "1655" "0" "c.1655C>T" "" "p.(Ala552Val)" "r.(?)" "" "" "" "" "" "-" "0000018931" "00000787" "00" "1517" "0" "1517" "0" "c.1517C>T" "" "p.(Ala506Val)" "r.(?)" "" "" "" "" "" "-" "0000018931" "00000788" "00" "1394" "0" "1394" "0" "c.1394C>T" "" "p.(Ala465Val)" "r.(?)" "" "" "" "" "" "-" "0000018932" "00000786" "00" "1620" "11" "1620" "11" "c.1620+11G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018932" "00000787" "00" "1482" "11" "1482" "11" "c.1482+11G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018932" "00000788" "00" "1359" "11" "1359" "11" "c.1359+11G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018933" "00000786" "00" "1590" "0" "1590" "0" "c.1590del" "" "p.(Lys531Serfs*24)" "r.(?)" "" "" "" "" "" "-" "0000018933" "00000787" "00" "1452" "0" "1452" "0" "c.1452del" "" "p.(Lys485Serfs*24)" "r.(?)" "" "" "" "" "" "-" "0000018933" "00000788" "00" "1329" "0" "1329" "0" "c.1329del" "" "p.(Lys444Serfs*24)" "r.(?)" "" "" "" "" "" "-" "0000018934" "00000786" "00" "1528" "0" "1528" "0" "c.1528G>C" "" "p.(Glu510Gln)" "r.(?)" "" "" "" "" "" "-" "0000018934" "00000787" "00" "1390" "0" "1390" "0" "c.1390G>C" "" "p.(Glu464Gln)" "r.(?)" "" "" "" "" "" "-" "0000018934" "00000788" "00" "1267" "0" "1267" "0" "c.1267G>C" "" "p.(Glu423Gln)" "r.(?)" "" "" "" "" "" "-" "0000018935" "00000786" "00" "1392" "10" "1392" "10" "c.1392+10G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018935" "00000787" "00" "1254" "10" "1254" "10" "c.1254+10G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018935" "00000788" "00" "1131" "10" "1131" "10" "c.1131+10G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018936" "00000786" "00" "1344" "0" "1345" "0" "c.1344_1345del" "" "p.(Phe449*)" "r.(?)" "" "" "" "" "" "-" "0000018936" "00000787" "00" "1206" "0" "1207" "0" "c.1206_1207del" "" "p.(Phe403*)" "r.(?)" "" "" "" "" "" "-" "0000018936" "00000788" "00" "1083" "0" "1084" "0" "c.1083_1084del" "" "p.(Phe362*)" "r.(?)" "" "" "" "" "" "-" "0000018937" "00000786" "00" "1237" "0" "1237" "0" "c.1237A>T" "" "p.(Lys413*)" "r.(?)" "" "" "" "" "" "-" "0000018937" "00000787" "00" "1099" "0" "1099" "0" "c.1099A>T" "" "p.(Lys367*)" "r.(?)" "" "" "" "" "" "-" "0000018937" "00000788" "00" "976" "0" "976" "0" "c.976A>T" "" "p.(Lys326*)" "r.(?)" "" "" "" "" "" "-" "0000018938" "00000786" "00" "1221" "-1" "1221" "-1" "c.1221-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018938" "00000787" "00" "1083" "-1" "1083" "-1" "c.1083-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018938" "00000788" "00" "960" "-1" "960" "-1" "c.960-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018939" "00000786" "00" "1212" "0" "1212" "0" "c.1212G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018939" "00000787" "00" "1074" "0" "1074" "0" "c.1074G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018939" "00000788" "00" "951" "0" "951" "0" "c.951G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018940" "00000786" "00" "1202" "0" "1202" "0" "c.1202del" "" "p.(Gln401Argfs*8)" "r.(?)" "" "" "" "" "" "-" "0000018940" "00000787" "00" "1064" "0" "1064" "0" "c.1064del" "" "p.(Gln355Argfs*8)" "r.(?)" "" "" "" "" "" "-" "0000018940" "00000788" "00" "941" "0" "941" "0" "c.941del" "" "p.(Gln314Argfs*8)" "r.(?)" "" "" "" "" "" "-" "0000018941" "00000786" "00" "1132" "0" "1132" "0" "c.1132C>T" "" "p.(Gln378*)" "r.(?)" "" "" "" "" "" "-" "0000018941" "00000787" "00" "994" "0" "994" "0" "c.994C>T" "" "p.(Gln332*)" "r.(?)" "" "" "" "" "" "-" "0000018941" "00000788" "00" "871" "0" "871" "0" "c.871C>T" "" "p.(Gln291*)" "r.(?)" "" "" "" "" "" "-" "0000018942" "00000786" "00" "1086" "-3" "1092" "0" "c.1086-3_1092del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018942" "00000787" "00" "948" "-3" "954" "0" "c.948-3_954del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018942" "00000788" "00" "825" "-3" "831" "0" "c.825-3_831del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018943" "00000786" "00" "1072" "0" "1072" "0" "c.1072C>A" "" "p.(Gln358Lys)" "r.(?)" "" "" "" "" "" "-" "0000018943" "00000787" "00" "934" "0" "934" "0" "c.934C>A" "" "p.(Gln312Lys)" "r.(?)" "" "" "" "" "" "-" "0000018943" "00000788" "00" "811" "0" "811" "0" "c.811C>A" "" "p.(Gln271Lys)" "r.(?)" "" "" "" "" "" "-" "0000018944" "00000786" "00" "1052" "0" "1052" "0" "c.1052del" "" "p.(Lys351Argfs*21)" "r.(?)" "" "" "" "" "" "-" "0000018944" "00000787" "00" "914" "0" "914" "0" "c.914del" "" "p.(Lys305Argfs*21)" "r.(?)" "" "" "" "" "" "-" "0000018944" "00000788" "00" "791" "0" "791" "0" "c.791del" "" "p.(Lys264Argfs*21)" "r.(?)" "" "" "" "" "" "-" "0000018945" "00000786" "00" "1025" "0" "1025" "0" "c.1025T>C" "" "p.(Leu342Pro)" "r.(?)" "" "" "" "" "" "-" "0000018945" "00000787" "00" "887" "0" "887" "0" "c.887T>C" "" "p.(Leu296Pro)" "r.(?)" "" "" "" "" "" "-" "0000018945" "00000788" "00" "764" "0" "764" "0" "c.764T>C" "" "p.(Leu255Pro)" "r.(?)" "" "" "" "" "" "-" "0000018946" "00000786" "00" "932" "0" "932" "0" "c.932G>C" "" "p.(Gly311Ala)" "r.(?)" "" "" "" "" "" "-" "0000018946" "00000787" "00" "794" "0" "794" "0" "c.794G>C" "" "p.(Gly265Ala)" "r.(?)" "" "" "" "" "" "-" "0000018946" "00000788" "00" "671" "0" "671" "0" "c.671G>C" "" "p.(Gly224Ala)" "r.(?)" "" "" "" "" "" "-" "0000018947" "00000786" "00" "919" "-2" "919" "-2" "c.919-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018947" "00000787" "00" "781" "-2" "781" "-2" "c.781-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018947" "00000788" "00" "658" "-2" "658" "-2" "c.658-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018948" "00000786" "00" "914" "0" "914" "0" "c.914T>A" "" "p.(Ile305Asn)" "r.(?)" "" "" "" "" "" "-" "0000018948" "00000787" "00" "776" "0" "776" "0" "c.776T>A" "" "p.(Ile259Asn)" "r.(?)" "" "" "" "" "" "-" "0000018948" "00000788" "00" "653" "0" "653" "0" "c.653T>A" "" "p.(Ile218Asn)" "r.(?)" "" "" "" "" "" "-" "0000018949" "00000786" "00" "871" "0" "871" "0" "c.871C>T" "" "p.(Arg291*)" "r.(?)" "" "" "" "" "" "-" "0000018949" "00000787" "00" "733" "0" "733" "0" "c.733C>T" "" "p.(Arg245*)" "r.(?)" "" "" "" "" "" "-" "0000018949" "00000788" "00" "610" "0" "610" "0" "c.610C>T" "" "p.(Arg204*)" "r.(?)" "" "" "" "" "" "-" "0000018950" "00000786" "00" "858" "0" "858" "0" "c.858G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018950" "00000787" "00" "720" "0" "720" "0" "c.720G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018950" "00000788" "00" "597" "0" "597" "0" "c.597G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018951" "00000786" "00" "845" "0" "845" "0" "c.845T>A" "" "p.(Val282Asp)" "r.(?)" "" "" "" "" "" "-" "0000018951" "00000787" "00" "707" "0" "707" "0" "c.707T>A" "" "p.(Val236Asp)" "r.(?)" "" "" "" "" "" "-" "0000018951" "00000788" "00" "584" "0" "584" "0" "c.584T>A" "" "p.(Val195Asp)" "r.(?)" "" "" "" "" "" "-" "0000018952" "00000786" "00" "809" "0" "809" "0" "c.809C>T" "" "p.(Ala270Val)" "r.(?)" "" "" "" "" "" "-" "0000018952" "00000787" "00" "671" "0" "671" "0" "c.671C>T" "" "p.(Ala224Val)" "r.(?)" "" "" "" "" "" "-" "0000018952" "00000788" "00" "548" "0" "548" "0" "c.548C>T" "" "p.(Ala183Val)" "r.(?)" "" "" "" "" "" "-" "0000018953" "00000786" "00" "703" "0" "703" "0" "c.703C>T" "" "p.(Arg235Trp)" "r.(?)" "" "" "" "" "" "-" "0000018953" "00000787" "00" "565" "0" "565" "0" "c.565C>T" "" "p.(Arg189Trp)" "r.(?)" "" "" "" "" "" "-" "0000018953" "00000788" "00" "442" "0" "442" "0" "c.442C>T" "" "p.(Arg148Trp)" "r.(?)" "" "" "" "" "" "-" "0000018954" "00000786" "00" "676" "6" "676" "6" "c.676+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018954" "00000787" "00" "538" "6" "538" "6" "c.538+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018954" "00000788" "00" "415" "6" "415" "6" "c.415+6T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018955" "00000786" "00" "676" "2" "676" "2" "c.676+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018955" "00000787" "00" "538" "2" "538" "2" "c.538+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018955" "00000788" "00" "415" "2" "415" "2" "c.415+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018956" "00000786" "00" "589" "0" "589" "0" "c.589G>T" "" "p.(Ala197Ser)" "r.(?)" "" "" "" "" "" "-" "0000018956" "00000787" "00" "474" "-23" "474" "-23" "c.474-23G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018956" "00000788" "00" "328" "0" "328" "0" "c.328G>T" "" "p.(Ala110Ser)" "r.(?)" "" "" "" "" "" "-" "0000018957" "00000786" "00" "585" "0" "585" "0" "c.585T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018957" "00000787" "00" "474" "-27" "474" "-27" "c.474-27T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018957" "00000788" "00" "324" "0" "324" "0" "c.324T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018958" "00000786" "00" "573" "8" "573" "9" "c.573+8_573+9insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018958" "00000787" "00" "473" "108" "473" "109" "c.473+108_473+109insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018958" "00000788" "00" "312" "8" "312" "9" "c.312+8_312+9insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018959" "00000786" "00" "560" "0" "560" "0" "c.560G>C" "" "p.(Arg187Thr)" "r.(?)" "" "" "" "" "" "-" "0000018959" "00000787" "00" "473" "87" "473" "87" "c.473+87G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018959" "00000788" "00" "299" "0" "299" "0" "c.299G>C" "" "p.(Arg100Thr)" "r.(?)" "" "" "" "" "" "-" "0000018960" "00000786" "00" "515" "0" "515" "0" "c.515del" "" "p.(Pro172Leufs*29)" "r.(?)" "" "" "" "" "" "-" "0000018960" "00000787" "00" "473" "42" "473" "42" "c.473+42del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018960" "00000788" "00" "254" "0" "254" "0" "c.254del" "" "p.(Pro85Leufs*29)" "r.(?)" "" "" "" "" "" "-" "0000018961" "00000786" "00" "474" "0" "474" "0" "c.474C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018961" "00000787" "00" "473" "1" "473" "1" "c.473+1C>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018961" "00000788" "00" "213" "0" "213" "0" "c.213C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018962" "00000786" "00" "454" "-13" "454" "-13" "c.454-13C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018962" "00000787" "00" "454" "-13" "454" "-13" "c.454-13C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018962" "00000788" "00" "193" "-13" "193" "-13" "c.193-13C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018963" "00000786" "00" "453" "1" "453" "1" "c.453+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018963" "00000787" "00" "453" "1" "453" "1" "c.453+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018963" "00000788" "00" "192" "1" "192" "1" "c.192+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018964" "00000786" "00" "403" "0" "403" "0" "c.403A>G" "" "p.(Lys135Glu)" "r.(?)" "" "" "" "" "" "-" "0000018964" "00000787" "00" "403" "0" "403" "0" "c.403A>G" "" "p.(Lys135Glu)" "r.(?)" "" "" "" "" "" "-" "0000018964" "00000788" "00" "142" "0" "142" "0" "c.142A>G" "" "p.(Lys48Glu)" "r.(?)" "" "" "" "" "" "-" "0000018965" "00000786" "00" "274" "0" "278" "0" "c.274_278del" "" "p.(Ser92Lysfs*10)" "r.(?)" "" "" "" "" "" "-" "0000018965" "00000787" "00" "274" "0" "278" "0" "c.274_278del" "" "p.(Ser92Lysfs*10)" "r.(?)" "" "" "" "" "" "-" "0000018965" "00000788" "00" "53" "2039" "53" "2043" "c.53+2039_53+2043del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018966" "00000786" "00" "264" "0" "264" "0" "c.264C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018966" "00000787" "00" "264" "0" "264" "0" "c.264C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018966" "00000788" "00" "53" "2029" "53" "2029" "c.53+2029C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018967" "00000786" "00" "240" "0" "240" "0" "c.240G>A" "" "p.(Trp80*)" "r.(?)" "" "" "" "" "" "-" "0000018967" "00000787" "00" "240" "0" "240" "0" "c.240G>A" "" "p.(Trp80*)" "r.(?)" "" "" "" "" "" "-" "0000018967" "00000788" "00" "53" "2005" "53" "2005" "c.53+2005G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018968" "00000786" "00" "180" "3" "180" "3" "c.180+3A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018968" "00000787" "00" "180" "3" "180" "3" "c.180+3A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018968" "00000788" "00" "53" "3" "53" "3" "c.53+3A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018969" "00000786" "00" "180" "1" "180" "1" "c.180+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018969" "00000787" "00" "180" "1" "180" "1" "c.180+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018969" "00000788" "00" "53" "1" "53" "1" "c.53+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018970" "00000786" "00" "157" "0" "157" "0" "c.157C>T" "" "p.(Arg53*)" "r.(?)" "" "" "" "" "" "-" "0000018970" "00000787" "00" "157" "0" "157" "0" "c.157C>T" "" "p.(Arg53*)" "r.(?)" "" "" "" "" "" "-" "0000018970" "00000788" "00" "30" "0" "30" "0" "c.30C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018971" "00000786" "00" "79" "0" "79" "0" "c.79C>T" "" "p.(Arg27Cys)" "r.(?)" "" "" "" "" "" "-" "0000018971" "00000787" "00" "79" "0" "79" "0" "c.79C>T" "" "p.(Arg27Cys)" "r.(?)" "" "" "" "" "" "-" "0000018971" "00000788" "00" "-49" "0" "-49" "0" "c.-49C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018972" "00000786" "00" "68" "-10" "68" "-10" "c.68-10T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018972" "00000787" "00" "68" "-10" "68" "-10" "c.68-10T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018972" "00000788" "00" "-60" "-10" "-60" "-10" "c.-60-10T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018973" "00000786" "00" "16" "0" "16" "0" "c.16G>C" "" "p.(Ala6Pro)" "r.(?)" "" "" "" "" "" "-" "0000018973" "00000787" "00" "16" "0" "16" "0" "c.16G>C" "" "p.(Ala6Pro)" "r.(?)" "" "" "" "" "" "-" "0000018973" "00000788" "00" "-112" "0" "-112" "0" "c.-112G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018974" "00000786" "00" "1" "0" "1" "0" "c.1A>G" "" "p.?" "r.?" "" "" "" "" "" "-" "0000018974" "00000787" "00" "1" "0" "1" "0" "c.1A>G" "" "p.?" "r.?" "" "" "" "" "" "-" "0000018974" "00000788" "00" "-127" "0" "-127" "0" "c.-127A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018975" "00000786" "00" "-37" "0" "-37" "0" "c.-37T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018975" "00000787" "00" "-37" "0" "-37" "0" "c.-37T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018975" "00000788" "00" "-150" "-14" "-150" "-14" "c.-164T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018976" "00000786" "00" "-130" "-38" "-130" "-38" "c.-168del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018976" "00000787" "00" "-168" "0" "-168" "0" "c.-168del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018976" "00000788" "00" "-150" "-145" "-150" "-145" "c.-295del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018977" "00000786" "00" "-130" "-59" "-130" "-59" "c.-189G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018977" "00000787" "00" "-189" "0" "-189" "0" "c.-189G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018977" "00000788" "00" "-150" "-166" "-150" "-166" "c.-316G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018978" "00000786" "00" "-130" "-71" "-130" "-71" "c.-201C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018978" "00000787" "00" "-201" "0" "-201" "0" "c.-201C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018978" "00000788" "00" "-150" "-178" "-150" "-178" "c.-328C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025634" "00000786" "00" "2276" "0" "2277" "0" "c.2276_2277insACAA" "" "p.(Lys760Glnfs*51)" "r.(?)" "" "" "" "" "" "-" "0000025634" "00000787" "00" "2138" "0" "2139" "0" "c.2138_2139insACAA" "" "p.(Lys714Glnfs*51)" "r.(?)" "" "" "" "" "" "-" "0000025634" "00000788" "00" "2015" "0" "2016" "0" "c.2015_2016insACAA" "" "p.(Lys673Glnfs*51)" "r.(?)" "" "" "" "" "" "-" "0000025635" "00000786" "00" "2241" "0" "2241" "0" "c.2241C>A" "" "p.(Cys747*)" "r.(?)" "" "" "" "" "" "-" "0000025635" "00000787" "00" "2103" "0" "2103" "0" "c.2103C>A" "" "p.(Cys701*)" "r.(?)" "" "" "" "" "" "-" "0000025635" "00000788" "00" "1980" "0" "1980" "0" "c.1980C>A" "" "p.(Cys660*)" "r.(?)" "" "" "" "" "" "-" "0000025636" "00000786" "00" "2227" "0" "2228" "0" "c.2227_2228del" "" "p.(Gln743Valfs*9)" "r.(?)" "" "" "" "" "" "-" "0000025636" "00000787" "00" "2089" "0" "2090" "0" "c.2089_2090del" "" "p.(Gln697Valfs*9)" "r.(?)" "" "" "" "" "" "-" "0000025636" "00000788" "00" "1966" "0" "1967" "0" "c.1966_1967del" "" "p.(Gln656Valfs*9)" "r.(?)" "" "" "" "" "" "-" "0000025637" "00000786" "00" "2228" "0" "2229" "0" "c.2228_2229insACA" "" "p.(Gln743dup)" "r.(?)" "" "" "" "" "" "-" "0000025637" "00000787" "00" "2090" "0" "2091" "0" "c.2090_2091insACA" "" "p.(Gln697dup)" "r.(?)" "" "" "" "" "" "-" "0000025637" "00000788" "00" "1967" "0" "1968" "0" "c.1967_1968insACA" "" "p.(Gln656dup)" "r.(?)" "" "" "" "" "" "-" "0000025638" "00000786" "00" "2222" "0" "2222" "0" "c.2222del" "" "p.(Gly741Glufs*10)" "r.(?)" "" "" "" "" "" "-" "0000025638" "00000787" "00" "2084" "0" "2084" "0" "c.2084del" "" "p.(Gly695Glufs*10)" "r.(?)" "" "" "" "" "" "-" "0000025638" "00000788" "00" "1961" "0" "1961" "0" "c.1961del" "" "p.(Gly654Glufs*10)" "r.(?)" "" "" "" "" "" "-" "0000025639" "00000786" "00" "2220" "0" "2220" "0" "c.2220T>A" "" "p.(Tyr740*)" "r.(?)" "" "" "" "" "" "-" "0000025639" "00000787" "00" "2082" "0" "2082" "0" "c.2082T>A" "" "p.(Tyr694*)" "r.(?)" "" "" "" "" "" "-" "0000025639" "00000788" "00" "1959" "0" "1959" "0" "c.1959T>A" "" "p.(Tyr653*)" "r.(?)" "" "" "" "" "" "-" "0000025640" "00000786" "00" "2131" "0" "2131" "0" "c.2131C>T" "" "p.(Pro711Ser)" "r.(?)" "" "" "" "" "" "-" "0000025640" "00000787" "00" "1993" "0" "1993" "0" "c.1993C>T" "" "p.(Pro665Ser)" "r.(?)" "" "" "" "" "" "-" "0000025640" "00000788" "00" "1870" "0" "1870" "0" "c.1870C>T" "" "p.(Pro624Ser)" "r.(?)" "" "" "" "" "" "-" "0000025641" "00000786" "00" "2114" "0" "2114" "0" "c.2114T>A" "" "p.(Val705Asp)" "r.(?)" "" "" "" "" "" "-" "0000025641" "00000787" "00" "1976" "0" "1976" "0" "c.1976T>A" "" "p.(Val659Asp)" "r.(?)" "" "" "" "" "" "-" "0000025641" "00000788" "00" "1853" "0" "1853" "0" "c.1853T>A" "" "p.(Val618Asp)" "r.(?)" "" "" "" "" "" "-" "0000025642" "00000786" "00" "2107" "0" "2107" "0" "c.2107G>A" "" "p.(Gly703Arg)" "r.(?)" "" "" "" "" "" "-" "0000025642" "00000787" "00" "1969" "0" "1969" "0" "c.1969G>A" "" "p.(Gly657Arg)" "r.(?)" "" "" "" "" "" "-" "0000025642" "00000788" "00" "1846" "0" "1846" "0" "c.1846G>A" "" "p.(Gly616Arg)" "r.(?)" "" "" "" "" "" "-" "0000025643" "00000786" "00" "2102" "0" "2102" "0" "c.2102A>G" "" "p.(Asp701Gly)" "r.(?)" "" "" "" "" "" "-" "0000025643" "00000787" "00" "1964" "0" "1964" "0" "c.1964A>G" "" "p.(Asp655Gly)" "r.(?)" "" "" "" "" "" "-" "0000025643" "00000788" "00" "1841" "0" "1841" "0" "c.1841A>G" "" "p.(Asp614Gly)" "r.(?)" "" "" "" "" "" "-" "0000025644" "00000786" "00" "2059" "0" "2059" "0" "c.2059del" "" "p.(Met687Cysfs*43)" "r.(?)" "" "" "" "" "" "-" "0000025644" "00000787" "00" "1921" "0" "1921" "0" "c.1921del" "" "p.(Met641Cysfs*43)" "r.(?)" "" "" "" "" "" "-" "0000025644" "00000788" "00" "1798" "0" "1798" "0" "c.1798del" "" "p.(Met600Cysfs*43)" "r.(?)" "" "" "" "" "" "-" "0000025645" "00000786" "00" "2026" "0" "2026" "0" "c.2026del" "" "p.(Arg676Alafs*3)" "r.(?)" "" "" "" "" "" "-" "0000025645" "00000787" "00" "1888" "0" "1888" "0" "c.1888del" "" "p.(Arg630Alafs*3)" "r.(?)" "" "" "" "" "" "-" "0000025645" "00000788" "00" "1765" "0" "1765" "0" "c.1765del" "" "p.(Arg589Alafs*3)" "r.(?)" "" "" "" "" "" "-" "0000025646" "00000786" "00" "2000" "1" "2000" "1" "c.2000+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025646" "00000787" "00" "1862" "1" "1862" "1" "c.1862+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025646" "00000788" "00" "1739" "1" "1739" "1" "c.1739+1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025647" "00000786" "00" "1959" "0" "1960" "0" "c.1959_1960insT" "" "p.(Ser654*)" "r.(?)" "" "" "" "" "" "-" "0000025647" "00000787" "00" "1821" "0" "1822" "0" "c.1821_1822insT" "" "p.(Ser608*)" "r.(?)" "" "" "" "" "" "-" "0000025647" "00000788" "00" "1698" "0" "1699" "0" "c.1698_1699insT" "" "p.(Ser567*)" "r.(?)" "" "" "" "" "" "-" "0000025648" "00000786" "00" "1919" "0" "1920" "0" "c.1919_1920insTCA" "" "p.(Tyr639_Gln640insHis)" "r.(?)" "" "" "" "" "" "-" "0000025648" "00000787" "00" "1781" "0" "1782" "0" "c.1781_1782insTCA" "" "p.(Tyr593_Gln594insHis)" "r.(?)" "" "" "" "" "" "-" "0000025648" "00000788" "00" "1658" "0" "1659" "0" "c.1658_1659insTCA" "" "p.(Tyr552_Gln553insHis)" "r.(?)" "" "" "" "" "" "-" "0000025649" "00000786" "00" "1828" "0" "1828" "0" "c.1828C>G" "" "p.(Arg610Gly)" "r.(?)" "" "" "" "" "" "-" "0000025649" "00000787" "00" "1690" "0" "1690" "0" "c.1690C>G" "" "p.(Arg564Gly)" "r.(?)" "" "" "" "" "" "-" "0000025649" "00000788" "00" "1567" "0" "1567" "0" "c.1567C>G" "" "p.(Arg523Gly)" "r.(?)" "" "" "" "" "" "-" "0000025650" "00000786" "00" "1814" "0" "1815" "0" "c.1814_1815del" "" "p.(Lys605Serfs*26)" "r.(?)" "" "" "" "" "" "-" "0000025650" "00000787" "00" "1676" "0" "1677" "0" "c.1676_1677del" "" "p.(Lys559Serfs*26)" "r.(?)" "" "" "" "" "" "-" "0000025650" "00000788" "00" "1553" "0" "1554" "0" "c.1553_1554del" "" "p.(Lys518Serfs*26)" "r.(?)" "" "" "" "" "" "-" "0000025651" "00000786" "00" "1712" "0" "1712" "0" "c.1712T>C" "" "p.(Leu571Pro)" "r.(?)" "" "" "" "" "" "-" "0000025651" "00000787" "00" "1574" "0" "1574" "0" "c.1574T>C" "" "p.(Leu525Pro)" "r.(?)" "" "" "" "" "" "-" "0000025651" "00000788" "00" "1451" "0" "1451" "0" "c.1451T>C" "" "p.(Leu484Pro)" "r.(?)" "" "" "" "" "" "-" "0000025652" "00000786" "00" "1708" "0" "1710" "0" "c.1708_1710del" "" "p.(Lys570del)" "r.(?)" "" "" "" "" "" "-" "0000025652" "00000787" "00" "1570" "0" "1572" "0" "c.1570_1572del" "" "p.(Lys524del)" "r.(?)" "" "" "" "" "" "-" "0000025652" "00000788" "00" "1447" "0" "1449" "0" "c.1447_1449del" "" "p.(Lys483del)" "r.(?)" "" "" "" "" "" "-" "0000025653" "00000786" "00" "1637" "0" "1637" "0" "c.1637A>G" "" "p.(Tyr546Cys)" "r.(?)" "" "" "" "" "" "-" "0000025653" "00000787" "00" "1499" "0" "1499" "0" "c.1499A>G" "" "p.(Tyr500Cys)" "r.(?)" "" "" "" "" "" "-" "0000025653" "00000788" "00" "1376" "0" "1376" "0" "c.1376A>G" "" "p.(Tyr459Cys)" "r.(?)" "" "" "" "" "" "-" "0000025654" "00000786" "00" "1620" "2" "1620" "6" "c.1620+2_1620+6del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025654" "00000787" "00" "1482" "2" "1482" "6" "c.1482+2_1482+6del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025654" "00000788" "00" "1359" "2" "1359" "6" "c.1359+2_1359+6del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025655" "00000786" "00" "1493" "0" "1493" "0" "c.1493A>G" "" "p.(His498Arg)" "r.(?)" "" "" "" "" "" "-" "0000025655" "00000787" "00" "1355" "0" "1355" "0" "c.1355A>G" "" "p.(His452Arg)" "r.(?)" "" "" "" "" "" "-" "0000025655" "00000788" "00" "1232" "0" "1232" "0" "c.1232A>G" "" "p.(His411Arg)" "r.(?)" "" "" "" "" "" "-" "0000025656" "00000786" "00" "1479" "1" "1479" "1" "c.1479+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025656" "00000787" "00" "1341" "1" "1341" "1" "c.1341+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025656" "00000788" "00" "1218" "1" "1218" "1" "c.1218+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025657" "00000786" "00" "1220" "5" "1220" "6" "c.1220+5_1220+6insTAAG" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025657" "00000787" "00" "1082" "5" "1082" "6" "c.1082+5_1082+6insTAAG" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025657" "00000788" "00" "959" "5" "959" "6" "c.959+5_959+6insTAAG" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025658" "00000786" "00" "1196" "0" "1196" "0" "c.1196G>A" "" "p.(Arg399Gln)" "r.(?)" "" "" "" "" "" "-" "0000025658" "00000787" "00" "1058" "0" "1058" "0" "c.1058G>A" "" "p.(Arg353Gln)" "r.(?)" "" "" "" "" "" "-" "0000025658" "00000788" "00" "935" "0" "935" "0" "c.935G>A" "" "p.(Arg312Gln)" "r.(?)" "" "" "" "" "" "-" "0000025659" "00000786" "00" "1195" "0" "1195" "0" "c.1195C>T" "" "p.(Arg399*)" "r.(?)" "" "" "" "" "" "-" "0000025659" "00000787" "00" "1057" "0" "1057" "0" "c.1057C>T" "" "p.(Arg353*)" "r.(?)" "" "" "" "" "" "-" "0000025659" "00000788" "00" "934" "0" "934" "0" "c.934C>T" "" "p.(Arg312*)" "r.(?)" "" "" "" "" "" "-" "0000025660" "00000786" "00" "982" "0" "982" "0" "c.982G>A" "" "p.(Gly328Arg)" "r.(?)" "" "" "" "" "" "-" "0000025660" "00000787" "00" "844" "0" "844" "0" "c.844G>A" "" "p.(Gly282Arg)" "r.(?)" "" "" "" "" "" "-" "0000025660" "00000788" "00" "721" "0" "721" "0" "c.721G>A" "" "p.(Gly241Arg)" "r.(?)" "" "" "" "" "" "-" "0000025661" "00000786" "00" "975" "0" "975" "0" "c.975G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025661" "00000787" "00" "837" "0" "837" "0" "c.837G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025661" "00000788" "00" "714" "0" "714" "0" "c.714G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025662" "00000786" "00" "955" "0" "955" "0" "c.955G>A" "" "p.(Gly319Ser)" "r.(?)" "" "" "" "" "" "-" "0000025662" "00000787" "00" "817" "0" "817" "0" "c.817G>A" "" "p.(Gly273Ser)" "r.(?)" "" "" "" "" "" "-" "0000025662" "00000788" "00" "694" "0" "694" "0" "c.694G>A" "" "p.(Gly232Ser)" "r.(?)" "" "" "" "" "" "-" "0000025663" "00000786" "00" "914" "0" "914" "0" "c.914T>C" "" "p.(Ile305Thr)" "r.(?)" "" "" "" "" "" "-" "0000025663" "00000787" "00" "776" "0" "776" "0" "c.776T>C" "" "p.(Ile259Thr)" "r.(?)" "" "" "" "" "" "-" "0000025663" "00000788" "00" "653" "0" "653" "0" "c.653T>C" "" "p.(Ile218Thr)" "r.(?)" "" "" "" "" "" "-" "0000025664" "00000786" "00" "844" "0" "845" "0" "c.844_845insA" "" "p.(Val282Aspfs*14)" "r.(?)" "" "" "" "" "" "-" "0000025664" "00000787" "00" "706" "0" "707" "0" "c.706_707insA" "" "p.(Val236Aspfs*14)" "r.(?)" "" "" "" "" "" "-" "0000025664" "00000788" "00" "583" "0" "584" "0" "c.583_584insA" "" "p.(Val195Aspfs*14)" "r.(?)" "" "" "" "" "" "-" "0000025665" "00000786" "00" "800" "-1" "801" "0" "c.800-1_801del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025665" "00000787" "00" "662" "-1" "663" "0" "c.662-1_663del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025665" "00000788" "00" "539" "-1" "540" "0" "c.539-1_540del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025666" "00000786" "00" "800" "-1" "800" "-1" "c.800-1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025666" "00000787" "00" "662" "-1" "662" "-1" "c.662-1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025666" "00000788" "00" "539" "-1" "539" "-1" "c.539-1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025667" "00000786" "00" "677" "-1" "677" "-1" "c.677-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025667" "00000787" "00" "539" "-1" "539" "-1" "c.539-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025667" "00000788" "00" "416" "-1" "416" "-1" "c.416-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025668" "00000786" "00" "657" "0" "658" "0" "c.657_658insGGACTGGTTGAC" "" "p.(Gly216_Asp219dup)" "r.(?)" "" "" "" "" "" "-" "0000025668" "00000787" "00" "519" "0" "520" "0" "c.519_520insGGACTGGTTGAC" "" "p.(Gly170_Asp173dup)" "r.(?)" "" "" "" "" "" "-" "0000025668" "00000788" "00" "396" "0" "397" "0" "c.396_397insGGACTGGTTGAC" "" "p.(Gly129_Asp132dup)" "r.(?)" "" "" "" "" "" "-" "0000025669" "00000786" "00" "652" "0" "652" "0" "c.652G>C" "" "p.(Val218Leu)" "r.(?)" "" "" "" "" "" "-" "0000025669" "00000787" "00" "514" "0" "514" "0" "c.514G>C" "" "p.(Val172Leu)" "r.(?)" "" "" "" "" "" "-" "0000025669" "00000788" "00" "391" "0" "391" "0" "c.391G>C" "" "p.(Val131Leu)" "r.(?)" "" "" "" "" "" "-" "0000025670" "00000786" "00" "574" "-3" "574" "-2" "c.574-3_574-2insT" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025670" "00000787" "00" "474" "-41" "474" "-40" "c.474-41_474-40insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025670" "00000788" "00" "313" "-3" "313" "-2" "c.313-3_313-2insT" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025671" "00000786" "00" "315" "-1" "315" "-1" "c.315-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025671" "00000787" "00" "315" "-1" "315" "-1" "c.315-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025671" "00000788" "00" "54" "-1" "54" "-1" "c.54-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025672" "00000786" "00" "129" "0" "130" "0" "c.129_130insT" "" "p.(Gly44Trpfs*12)" "r.(?)" "" "" "" "" "" "-" "0000025672" "00000787" "00" "129" "0" "130" "0" "c.129_130insT" "" "p.(Gly44Trpfs*12)" "r.(?)" "" "" "" "" "" "-" "0000025672" "00000788" "00" "2" "0" "3" "0" "c.2_3insT" "" "p.?" "r.?" "" "" "" "" "" "-" "0000025673" "00000786" "00" "72" "0" "72" "0" "c.72del" "" "p.(Tyr24*)" "r.(?)" "" "" "" "" "" "-" "0000025673" "00000787" "00" "72" "0" "72" "0" "c.72del" "" "p.(Tyr24*)" "r.(?)" "" "" "" "" "" "-" "0000025673" "00000788" "00" "-56" "0" "-56" "0" "c.-56del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025674" "00000786" "00" "64" "0" "64" "0" "c.64C>T" "" "p.(Arg22*)" "r.(?)" "" "" "" "" "" "-" "0000025674" "00000787" "00" "64" "0" "64" "0" "c.64C>T" "" "p.(Arg22*)" "r.(?)" "" "" "" "" "" "-" "0000025674" "00000788" "00" "-64" "0" "-64" "0" "c.-64C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025675" "00000786" "00" "24" "0" "25" "0" "c.24_25insGGCCTGCCGGGCGATTGGC" "" "p.(Ile9Glyfs*40)" "r.(?)" "" "" "" "" "" "-" "0000025675" "00000787" "00" "24" "0" "25" "0" "c.24_25insGGCCTGCCGGGCGATTGGC" "" "p.(Ile9Glyfs*40)" "r.(?)" "" "" "" "" "" "-" "0000025675" "00000788" "00" "-104" "0" "-103" "0" "c.-104_-103insGGCCTGCCGGGCGATTGGC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025676" "00000786" "00" "5" "0" "7" "0" "c.5_7del" "" "p.(Val2del)" "r.(?)" "" "" "" "" "" "-" "0000025676" "00000787" "00" "5" "0" "7" "0" "c.5_7del" "" "p.(Val2del)" "r.(?)" "" "" "" "" "" "-" "0000025676" "00000788" "00" "-123" "0" "-121" "0" "c.-123_-121del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025677" "00000786" "00" "3" "0" "3" "0" "c.3G>A" "" "p.?" "r.?" "" "" "" "" "" "-" "0000025677" "00000787" "00" "3" "0" "3" "0" "c.3G>A" "" "p.?" "r.?" "" "" "" "" "" "-" "0000025677" "00000788" "00" "-125" "0" "-125" "0" "c.-125G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0