### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AARS2) # 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}}" "AARS2" "alanyl-tRNA synthetase 2, mitochondrial" "6" "p21.1" "unknown" "NC_000006.11" "UD_138377501793" "" "" "" "1" "1" "21022" "57505" "612035" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "c" "http://mseqdr.lumc.edu/LOVD3/refseq/AARS2_codingDNA.html" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-06 00:00:00" "00001" "2013-11-06 19:22:35" "00001" "2013-11-13 22:29:33" "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}}" "00000006" "AARS2" "alanyl-tRNA synthetase 2, mitochondrial" "001" "NM_020745.3" "" "NP_065796.1" "" "" "" "-3" "4779" "2958" "44281063" "44266463" "00001" "2013-11-06 15:58:46" "" "" "" "6" "00000017" "AARS2" "transcript variant X1" "002" "XM_005249245.1" "" "XP_005249302.1" "" "" "" "-34" "3761" "2667" "44281094" "44267190" "00001" "2013-11-07 12:26:17" "" "" "" "6" "00000018" "AARS2" "transcript variant X2" "003" "XR_241907.1" "" "" "" "" "" "1" "2921" "2921" "44281094" "44268245" "00001" "2013-11-07 12:26:17" "" "" "" "6" ## 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}}" "00076" "COXPD8" "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8" "614096" "" "" "" "00001" "2013-11-13 22:18:02" "" "" "" "00638" "LKENP" "LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP" "615889" "" "OMIM: \r\n Description\r\nProgressive leukoencephalopathy with ovarian failure is an autosomal recessive neurodegenerative disorder characterized by loss of motor and cognitive skills, usually with onset in young adulthood. Some patients may have a history of delayed motor development or learning difficulties in early childhood. Neurologic decline is severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia. Most patients lose speech and become wheelchair-bound or bedridden. Brain MRI shows progressive white matter signal abnormalities in the deep white matter. Affected females develop premature ovarian failure (summary by Dallabona et al., 2014). \r\n\r\n\r\n▼ Clinical Features\r\nDallabona et al. (2014) reported 5 unrelated women and 1 man with a progressive leukoencephalopathic neurodegenerative disorder. Two patients, a female and a male, had symptoms in early childhood, 1 manifesting mildly delayed motor development and the other manifesting congenital nystagmus and learning difficulties. These patients developed further neurologic symptoms in their teenage years, including progressive gait ataxia, tremor, spasticity, dystonia, dysarthria, and cognitive decline. The girl developed secondary amenorrhea due to ovarian failure at age 18 years. Four additional women presented with ovarian failure between the ages of 20 and 40, and subsequently developed progressive and severe neurodegeneration resulting in loss of motor skills, speech, and cognition by the mid-thirties to forties. Most of the 6 patients either became wheelchair-bound or bedridden, and 2 died. One patient had no cognitive decline at age 25. Investigation of mitochondrial function performed in 2 patients showed severe isolated cytochrome c oxidase deficiency (15% and 33% residual activity, respectively) in skeletal muscle, although respiratory chain activities were normal in fibroblasts. Ragged-red fibers were not present. Brain MRI of all patients showed patchy and inhomogeneous cerebral white matter abnormalities predominantly affecting the frontal and parietal periventricular and deep white matter, and often affecting the corpus callosum. Cerebellar atrophy was variable. None of the patients had cardiomyopathy." "" "00001" "2019-03-27 11:42:25" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "AARS2" "00076" "AARS2" "00638" ## 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 = 93 "{{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}}" "0000001186" "0" "99" "6" "44272249" "44272249" "subst" "51" "0.000230663" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-05-14 00:58:41" "AARS2_000003" "g.44272249G>A" "" "{PMID:25058219:25058219};{PMID:21549344:21549344}" "" "rs138119149" "subst" "0" "; clinVar;" "0.272" "" "" "" "" "MSCV_0001186" "" "0000001187" "0" "99" "6" "44278832" "44278833" "ins" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-05-14 00:58:42" "AARS2_000001" "g.44278832_44278833insC" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0001187" "" "0000001188" "0" "99" "6" "44279244" "44279244" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 07:39:22" "AARS2_000002" "g.44279244A>C" "" "{PMID:21549344:21549344};{PMID:24808023:24808023}" "" "rs387907061" "subst" "0" "; clinVar;" "4.880" "" "" "" "" "MSCV_0001188" "" "0000021683" "0" "99" "6" "44270547" "44270547" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:51:28" "AARS2_000009" "g.44270547C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021683" "" "0000021684" "0" "99" "6" "44272249" "44272249" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-10 23:25:40" "AARS2_000003" "g.44272249G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001186" "" "0000021685" "0" "55" "6" "44272474" "44272474" "subst" "35" "0.000538213" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-12 11:58:54" "AARS2_000006" "g.44272474G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021685" "" "0000021686" "0" "99" "6" "44272809" "44272809" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-05-02 20:57:28" "AARS2_000007" "g.44272809G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021686" "" "0000021687" "0" "77" "6" "44272836" "44272836" "subst" "51" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-14 00:58:42" "AARS2_000008" "g.44272836C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021687" "" "0000021688" "0" "77" "6" "44275041" "44275041" "subst" "51" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-14 00:58:42" "AARS2_000005" "g.44275041G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021688" "" "0000021689" "0" "99" "6" "44278832" "44278833" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-07-01 09:19:19" "AARS2_000001" "g.44278832_44278833insC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001187" "" "0000021690" "0" "99" "6" "44279244" "44279244" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:21:33" "AARS2_000002" "g.44279244A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001188" "" "0000026444" "0" "00" "6" "44266473" "44266473" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:09:09" "AARS2_000090" "g.44266473G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026445" "0" "00" "6" "44266564" "44266564" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-06-03 03:26:44" "AARS2_000091" "g.44266564G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026446" "0" "00" "6" "44266565" "44266565" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:58:01" "AARS2_000087" "g.44266565A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026447" "0" "00" "6" "44266574" "44266574" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-08-27 05:13:40" "AARS2_000088" "g.44266574C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026448" "0" "00" "6" "44266578" "44266578" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:58:32" "AARS2_000089" "g.44266578G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026449" "0" "00" "6" "44266648" "44266649" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-06-22 13:09:19" "AARS2_000074" "g.44266648_44266649insTT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026450" "0" "00" "6" "44266681" "44266681" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 05:46:04" "AARS2_000075" "g.44266681G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026451" "0" "00" "6" "44266708" "44266708" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-13 06:22:25" "AARS2_000076" "g.44266708T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026452" "0" "00" "6" "44266735" "44266735" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-05-14 00:58:41" "AARS2_000077" "g.44266735G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026453" "0" "00" "6" "44266799" "44266799" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 05:46:41" "AARS2_000078" "g.44266799C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026454" "0" "00" "6" "44266811" "44266811" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 05:46:53" "AARS2_000079" "g.44266811del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026455" "0" "00" "6" "44266925" "44266925" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 05:47:05" "AARS2_000080" "g.44266925T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026456" "0" "00" "6" "44266984" "44266984" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 05:47:18" "AARS2_000081" "g.44266984G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026457" "0" "00" "6" "44266997" "44267000" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 05:47:31" "AARS2_000082" "g.44266997_44267000del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026458" "0" "00" "6" "44267000" "44267000" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 05:47:43" "AARS2_000083" "g.44267000del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026459" "0" "00" "6" "44267032" "44267032" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 05:48:49" "AARS2_000084" "g.44267032T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026460" "0" "00" "6" "44267171" "44267172" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-08-29 21:34:12" "AARS2_000085" "g.44267171_44267172insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026461" "0" "00" "6" "44267287" "44267287" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 05:49:14" "AARS2_000086" "g.44267287C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026462" "0" "00" "6" "44267302" "44267302" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:39:44" "AARS2_000010" "g.44267302C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026463" "0" "00" "6" "44267358" "44267358" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:39:57" "AARS2_000011" "g.44267358G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026464" "0" "00" "6" "44267531" "44267531" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:09" "AARS2_000012" "g.44267531G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026465" "0" "00" "6" "44267566" "44267566" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:21" "AARS2_000013" "g.44267566G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026466" "0" "00" "6" "44267650" "44267651" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-09-22 23:50:52" "AARS2_000014" "g.44267650_44267651insAGGGCACCCATACC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026467" "0" "00" "6" "44267728" "44267729" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:46" "AARS2_000015" "g.44267728_44267729insTTTAT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026468" "0" "00" "6" "44267861" "44267861" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:58" "AARS2_000016" "g.44267861C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026469" "0" "00" "6" "44267876" "44267876" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:41:10" "AARS2_000017" "g.44267876C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026470" "0" "00" "6" "44267890" "44267890" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-05-14 00:58:41" "AARS2_000018" "g.44267890G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026471" "0" "00" "6" "44267918" "44267918" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-05-14 00:58:41" "AARS2_000019" "g.44267918A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026472" "0" "00" "6" "44267941" "44267941" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:41:47" "AARS2_000020" "g.44267941C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026473" "0" "00" "6" "44267943" "44267943" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-26 05:43:43" "AARS2_000021" "g.44267943C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026474" "0" "00" "6" "44268005" "44268005" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-08-27 22:30:28" "AARS2_000022" "g.44268005C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026475" "0" "00" "6" "44268022" "44268022" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:43:22" "AARS2_000023" "g.44268022A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026476" "0" "00" "6" "44268028" "44268028" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:43:36" "AARS2_000024" "g.44268028T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026477" "0" "00" "6" "44268275" "44268275" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:44:13" "AARS2_000025" "g.44268275G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026478" "0" "00" "6" "44268349" "44268349" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-26 05:43:43" "AARS2_000026" "g.44268349C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026479" "0" "00" "6" "44268371" "44268371" "subst" "35" "0.871136" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:44:37" "AARS2_000027" "g.44268371T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026480" "0" "00" "6" "44268382" "44268382" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:45:01" "AARS2_000028" "g.44268382C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026481" "0" "00" "6" "44268448" "44268448" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-26 05:43:43" "AARS2_000029" "g.44268448C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026482" "0" "00" "6" "44268985" "44268985" "subst" "35" "0.000153775" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:45:25" "AARS2_000030" "g.44268985G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026483" "0" "00" "6" "44269004" "44269004" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:45:37" "AARS2_000031" "g.44269004C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026484" "0" "00" "6" "44269121" "44269121" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-07-18 08:09:06" "AARS2_000032" "g.44269121G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026485" "0" "00" "6" "44269193" "44269193" "subst" "35" "0.678994" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:46:22" "AARS2_000033" "g.44269193C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026486" "0" "00" "6" "44269847" "44269847" "subst" "35" "0.0216054" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:46:34" "AARS2_000034" "g.44269847T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026487" "0" "00" "6" "44270175" "44270175" "subst" "35" "0.0169153" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-03-12 13:40:46" "AARS2_000054" "g.44270175C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026488" "0" "00" "6" "44270189" "44270189" "subst" "35" "0.0197601" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:00:01" "AARS2_000055" "g.44270189A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026489" "0" "00" "6" "44270637" "44270637" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-05-14 00:58:41" "AARS2_000056" "g.44270637G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026490" "0" "00" "6" "44270856" "44270856" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:00:27" "AARS2_000057" "g.44270856C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026491" "0" "00" "6" "44270870" "44270870" "subst" "35" "0.0309088" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:00:39" "AARS2_000058" "g.44270870C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026492" "0" "00" "6" "44270923" "44270923" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-04 18:57:07" "AARS2_000059" "g.44270923G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026493" "0" "00" "6" "44271036" "44271036" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:01:04" "AARS2_000060" "g.44271036C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026494" "0" "00" "6" "44271141" "44271141" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:01:16" "AARS2_000061" "g.44271141T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026495" "0" "00" "6" "44271910" "44271910" "subst" "35" "0.00730432" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:01:29" "AARS2_000062" "g.44271910G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026496" "0" "00" "6" "44272283" "44272283" "subst" "35" "0.0169153" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:01:41" "AARS2_000063" "g.44272283A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026497" "0" "00" "6" "44272284" "44272284" "subst" "51" "0.0316008" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-04 18:57:07" "AARS2_000064" "g.44272284G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026498" "0" "00" "6" "44272382" "44272382" "subst" "35" "0.00507458" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:02:06" "AARS2_000065" "g.44272382C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026499" "0" "00" "6" "44272452" "44272452" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:02:18" "AARS2_000066" "g.44272452C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026500" "0" "00" "6" "44272473" "44272473" "subst" "35" "0.000230663" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:02:31" "AARS2_000067" "g.44272473C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026501" "0" "00" "6" "44272490" "44272490" "subst" "51" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-04 18:57:07" "AARS2_000068" "g.44272490G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026502" "0" "00" "6" "44272513" "44272513" "subst" "35" "0.00153775" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:02:56" "AARS2_000069" "g.44272513C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026503" "0" "00" "6" "44272801" "44272801" "subst" "35" "0.000153775" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:03:08" "AARS2_000070" "g.44272801G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026504" "0" "00" "6" "44272926" "44272926" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-08-03 04:59:47" "AARS2_000071" "g.44272926G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026505" "0" "00" "6" "44273437" "44273437" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:03:33" "AARS2_000072" "g.44273437G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026506" "0" "00" "6" "44274104" "44274104" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:03:45" "AARS2_000073" "g.44274104C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026507" "0" "00" "6" "44274121" "44274121" "subst" "35" "0.0113025" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:24:20" "AARS2_000035" "g.44274121T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026508" "0" "00" "6" "44274125" "44274125" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:24:32" "AARS2_000036" "g.44274125C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026509" "0" "00" "6" "44274142" "44274144" "del" "35" "0.00191755" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:24:45" "AARS2_000037" "g.44274142_44274144del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026510" "0" "00" "6" "44274725" "44274725" "subst" "35" "0.00292173" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:24:58" "AARS2_000038" "g.44274725T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026511" "0" "00" "6" "44274985" "44274985" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:25:10" "AARS2_000039" "g.44274985C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026512" "0" "00" "6" "44275059" "44275059" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:25:23" "AARS2_000040" "g.44275059C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026513" "0" "00" "6" "44275111" "44275111" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:25:35" "AARS2_000041" "g.44275111G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026514" "0" "00" "6" "44278051" "44278051" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:25:47" "AARS2_000042" "g.44278051G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026515" "0" "00" "6" "44278058" "44278058" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:25:59" "AARS2_000043" "g.44278058G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026516" "0" "00" "6" "44278069" "44278069" "subst" "35" "0.0129171" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:26:13" "AARS2_000044" "g.44278069G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026517" "0" "00" "6" "44278145" "44278145" "subst" "51" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-05-14 00:58:42" "AARS2_000045" "g.44278145C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026518" "0" "00" "6" "44278169" "44278169" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-27 06:49:34" "AARS2_000046" "g.44278169C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026519" "0" "00" "6" "44279824" "44279824" "subst" "51" "0.0169922" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-24 07:39:22" "AARS2_000047" "g.44279824C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026520" "0" "00" "6" "44279836" "44279836" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:27:02" "AARS2_000048" "g.44279836A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026521" "0" "00" "6" "44279976" "44279976" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-05-14 00:58:42" "AARS2_000049" "g.44279976C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026522" "0" "00" "6" "44280812" "44280812" "subst" "51" "0.497385" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-24 07:39:22" "AARS2_000050" "g.44280812C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026523" "0" "00" "6" "44280912" "44280912" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:27:42" "AARS2_000051" "g.44280912A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026524" "0" "00" "6" "44281036" "44281036" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:27:54" "AARS2_000052" "g.44281036C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026525" "0" "00" "6" "44281039" "44281039" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:28:06" "AARS2_000053" "g.44281039C>A" "" "" "" "" "" "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 = 278 "{{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}}" "0000001186" "00000006" "99" "1774" "0" "1774" "0" "c.1774C>T" "13/22" "p.(Arg592Trp)" "r.(?)" "possibly_damaging(0.806)" "" "missense_variant" "" "" "deleterious(0)" "0000001186" "00000017" "99" "1483" "0" "1483" "0" "c.1483C>T" "11/20" "p.(Arg495Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001186" "00000018" "99" "1808" "0" "1808" "0" "n.1808C>T" "" "" "" "" "" "" "" "" "-" "0000001187" "00000006" "00" "648" "0" "647" "0" "c.647_648insG" "" "p.(Cys218Leufs*6)" "r.(?)" "" "" "" "" "" "-" "0000001187" "00000017" "00" "648" "0" "647" "0" "c.647_648insG" "" "p.(Cys218Leufs*6)" "r.(?)" "" "" "" "" "" "-" "0000001187" "00000018" "00" "682" "0" "681" "0" "n.681_682insG" "" "" "" "" "" "" "" "" "-" "0000001188" "00000006" "99" "464" "0" "464" "0" "c.464T>G" "3/22" "p.(Leu155Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001188" "00000017" "99" "464" "0" "464" "0" "c.464T>G" "3/22" "p.(Leu155Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001188" "00000018" "99" "498" "0" "498" "0" "n.498T>G" "" "" "" "" "" "" "" "" "-" "0000021683" "00000006" "00" "2356" "0" "2356" "0" "c.2356G>A" "" "p.(Ala786Thr)" "r.(?)" "" "" "" "" "" "-" "0000021683" "00000017" "00" "2065" "0" "2065" "0" "c.2065G>A" "" "p.(Ala689Thr)" "r.(?)" "" "" "" "" "" "-" "0000021683" "00000018" "00" "2280" "0" "2280" "0" "n.2280G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021684" "00000006" "00" "1774" "0" "1774" "0" "c.1774C>T" "" "p.(Arg592Trp)" "r.(?)" "" "" "" "" "" "-" "0000021684" "00000017" "00" "1483" "0" "1483" "0" "c.1483C>T" "" "p.(Arg495Trp)" "r.(?)" "" "" "" "" "" "-" "0000021684" "00000018" "00" "1808" "0" "1808" "0" "n.1808C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021685" "00000006" "00" "1660" "0" "1660" "0" "c.1660C>T" "" "p.(Arg554Cys)" "r.(?)" "" "" "" "" "" "-" "0000021685" "00000017" "00" "1369" "0" "1369" "0" "c.1369C>T" "" "p.(Arg457Cys)" "r.(?)" "" "" "" "" "" "-" "0000021685" "00000018" "00" "1694" "0" "1694" "0" "n.1694C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021686" "00000006" "00" "1561" "0" "1561" "0" "c.1561C>T" "" "p.(Arg521*)" "r.(?)" "" "" "" "" "" "-" "0000021686" "00000017" "00" "1270" "0" "1270" "0" "c.1270C>T" "" "p.(Arg424*)" "r.(?)" "" "" "" "" "" "-" "0000021686" "00000018" "00" "1595" "0" "1595" "0" "n.1595C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021687" "00000006" "00" "1534" "0" "1534" "0" "c.1534G>C" "" "p.(Asp512His)" "r.(?)" "" "" "" "" "" "-" "0000021687" "00000017" "00" "1243" "0" "1243" "0" "c.1243G>C" "" "p.(Asp415His)" "r.(?)" "" "" "" "" "" "-" "0000021687" "00000018" "00" "1568" "0" "1568" "0" "n.1568G>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021688" "00000006" "00" "985" "0" "985" "0" "c.985C>T" "" "p.(Arg329Cys)" "r.(?)" "" "" "" "" "" "-" "0000021688" "00000017" "00" "750" "-273" "750" "-273" "c.750-273C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021688" "00000018" "00" "1019" "0" "1019" "0" "n.1019C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021689" "00000006" "00" "647" "0" "648" "0" "c.647_648insG" "" "p.(Cys218Leufs*6)" "r.(?)" "" "" "" "" "" "-" "0000021689" "00000017" "00" "647" "0" "648" "0" "c.647_648insG" "" "p.(Cys218Leufs*6)" "r.(?)" "" "" "" "" "" "-" "0000021689" "00000018" "00" "681" "0" "682" "0" "n.681_682insG" "" "-" "r.(?)" "" "" "" "" "" "-" "0000021690" "00000006" "00" "464" "0" "464" "0" "c.464T>G" "" "p.(Leu155Arg)" "r.(?)" "" "" "" "" "" "-" "0000021690" "00000017" "00" "464" "0" "464" "0" "c.464T>G" "" "p.(Leu155Arg)" "r.(?)" "" "" "" "" "" "-" "0000021690" "00000018" "00" "498" "0" "498" "0" "n.498T>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026444" "00000006" "00" "4769" "0" "4769" "0" "c.*1811C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026444" "00000017" "00" "3761" "717" "3761" "717" "c.*1811C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026444" "00000018" "00" "2921" "1772" "2921" "1772" "n.*1772C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026445" "00000006" "00" "4678" "0" "4678" "0" "c.*1720C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026445" "00000017" "00" "3761" "626" "3761" "626" "c.*1720C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026445" "00000018" "00" "2921" "1681" "2921" "1681" "n.*1681C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026446" "00000006" "00" "4677" "0" "4677" "0" "c.*1719T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026446" "00000017" "00" "3761" "625" "3761" "625" "c.*1719T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026446" "00000018" "00" "2921" "1680" "2921" "1680" "n.*1680T>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026447" "00000006" "00" "4668" "0" "4668" "0" "c.*1710G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026447" "00000017" "00" "3761" "616" "3761" "616" "c.*1710G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026447" "00000018" "00" "2921" "1671" "2921" "1671" "n.*1671G>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026448" "00000006" "00" "4664" "0" "4664" "0" "c.*1706C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026448" "00000017" "00" "3761" "612" "3761" "612" "c.*1706C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026448" "00000018" "00" "2921" "1667" "2921" "1667" "n.*1667C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026449" "00000006" "00" "4593" "0" "4594" "0" "c.*1635_*1636insAA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026449" "00000017" "00" "3761" "541" "3761" "542" "c.*1635_*1636insAA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026449" "00000018" "00" "2921" "1596" "2921" "1597" "n.*1596_*1597insAA" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026450" "00000006" "00" "4561" "0" "4561" "0" "c.*1603C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026450" "00000017" "00" "3761" "509" "3761" "509" "c.*1603C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026450" "00000018" "00" "2921" "1564" "2921" "1564" "n.*1564C>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026451" "00000006" "00" "4534" "0" "4534" "0" "c.*1576A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026451" "00000017" "00" "3761" "482" "3761" "482" "c.*1576A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026451" "00000018" "00" "2921" "1537" "2921" "1537" "n.*1537A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026452" "00000006" "00" "4507" "0" "4507" "0" "c.*1549C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026452" "00000017" "00" "3761" "455" "3761" "455" "c.*1549C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026452" "00000018" "00" "2921" "1510" "2921" "1510" "n.*1510C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026453" "00000006" "00" "4443" "0" "4443" "0" "c.*1485G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026453" "00000017" "00" "3761" "391" "3761" "391" "c.*1485G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026453" "00000018" "00" "2921" "1446" "2921" "1446" "n.*1446G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026454" "00000006" "00" "4431" "0" "4431" "0" "c.*1473del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026454" "00000017" "00" "3761" "379" "3761" "379" "c.*1473del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026454" "00000018" "00" "2921" "1434" "2921" "1434" "n.*1434del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026455" "00000006" "00" "4317" "0" "4317" "0" "c.*1359A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026455" "00000017" "00" "3761" "265" "3761" "265" "c.*1359A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026455" "00000018" "00" "2921" "1320" "2921" "1320" "n.*1320A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026456" "00000006" "00" "4258" "0" "4258" "0" "c.*1300C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026456" "00000017" "00" "3761" "206" "3761" "206" "c.*1300C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026456" "00000018" "00" "2921" "1261" "2921" "1261" "n.*1261C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026457" "00000006" "00" "4242" "0" "4245" "0" "c.*1284_*1287del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026457" "00000017" "00" "3761" "190" "3761" "193" "c.*1284_*1287del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026457" "00000018" "00" "2921" "1245" "2921" "1248" "n.*1245_*1248del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026458" "00000006" "00" "4242" "0" "4242" "0" "c.*1284del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026458" "00000017" "00" "3761" "190" "3761" "190" "c.*1284del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026458" "00000018" "00" "2921" "1245" "2921" "1245" "n.*1245del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026459" "00000006" "00" "4210" "0" "4210" "0" "c.*1252A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026459" "00000017" "00" "3761" "158" "3761" "158" "c.*1252A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026459" "00000018" "00" "2921" "1213" "2921" "1213" "n.*1213A>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026460" "00000006" "00" "4070" "0" "4071" "0" "c.*1112_*1113insA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026460" "00000017" "00" "3761" "18" "3761" "19" "c.*1112_*1113insA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026460" "00000018" "00" "2921" "1073" "2921" "1074" "n.*1073_*1074insA" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026461" "00000006" "00" "3955" "0" "3955" "0" "c.*997G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026461" "00000017" "00" "3664" "0" "3664" "0" "c.*997G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026461" "00000018" "00" "2921" "958" "2921" "958" "n.*958G>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026462" "00000017" "00" "3649" "0" "3649" "0" "c.*982G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026462" "00000018" "00" "2921" "943" "2921" "943" "n.*943G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026463" "00000006" "00" "3884" "0" "3884" "0" "c.*926C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026463" "00000017" "00" "3593" "0" "3593" "0" "c.*926C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026463" "00000018" "00" "2921" "887" "2921" "887" "n.*887C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026464" "00000006" "00" "3711" "0" "3711" "0" "c.*753C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026464" "00000017" "00" "3420" "0" "3420" "0" "c.*753C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026464" "00000018" "00" "2921" "714" "2921" "714" "n.*714C>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026465" "00000006" "00" "3676" "0" "3676" "0" "c.*718C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026465" "00000017" "00" "3385" "0" "3385" "0" "c.*718C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026465" "00000018" "00" "2921" "679" "2921" "679" "n.*679C>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026466" "00000006" "00" "3591" "0" "3592" "0" "c.*633_*634insGGTATGGGTGCCCT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026466" "00000017" "00" "3300" "0" "3301" "0" "c.*633_*634insGGTATGGGTGCCCT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026466" "00000018" "00" "2921" "594" "2921" "595" "n.*594_*595insGGTATGGGTGCCCT" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026467" "00000006" "00" "3513" "0" "3514" "0" "c.*555_*556insATAAA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026467" "00000017" "00" "3222" "0" "3223" "0" "c.*555_*556insATAAA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026467" "00000018" "00" "2921" "516" "2921" "517" "n.*516_*517insATAAA" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026468" "00000006" "00" "3381" "0" "3381" "0" "c.*423G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026468" "00000017" "00" "3090" "0" "3090" "0" "c.*423G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026468" "00000018" "00" "2921" "384" "2921" "384" "n.*384G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026469" "00000006" "00" "3366" "0" "3366" "0" "c.*408G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026469" "00000017" "00" "3075" "0" "3075" "0" "c.*408G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026469" "00000018" "00" "2921" "369" "2921" "369" "n.*369G>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026470" "00000006" "00" "3352" "0" "3352" "0" "c.*394C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026470" "00000017" "00" "3061" "0" "3061" "0" "c.*394C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026470" "00000018" "00" "2921" "355" "2921" "355" "n.*355C>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026471" "00000006" "00" "3324" "0" "3324" "0" "c.*366T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026471" "00000017" "00" "3033" "0" "3033" "0" "c.*366T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026471" "00000018" "00" "2921" "327" "2921" "327" "n.*327T>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026472" "00000006" "00" "3301" "0" "3301" "0" "c.*343G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026472" "00000017" "00" "3010" "0" "3010" "0" "c.*343G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026472" "00000018" "00" "2921" "304" "2921" "304" "n.*304G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026473" "00000006" "00" "3299" "0" "3299" "0" "c.*341G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026473" "00000017" "00" "3008" "0" "3008" "0" "c.*341G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026473" "00000018" "00" "2921" "302" "2921" "302" "n.*302G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026474" "00000006" "00" "3237" "0" "3237" "0" "c.*279G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026474" "00000017" "00" "2946" "0" "2946" "0" "c.*279G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026474" "00000018" "00" "2921" "240" "2921" "240" "n.*240G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026475" "00000006" "00" "3220" "0" "3220" "0" "c.*262T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026475" "00000017" "00" "2929" "0" "2929" "0" "c.*262T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026475" "00000018" "00" "2921" "223" "2921" "223" "n.*223T>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026476" "00000006" "00" "3214" "0" "3214" "0" "c.*256A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026476" "00000017" "00" "2923" "0" "2923" "0" "c.*256A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026476" "00000018" "00" "2921" "217" "2921" "217" "n.*217A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026477" "00000006" "00" "2967" "0" "2967" "0" "c.*9C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026477" "00000017" "00" "2676" "0" "2676" "0" "c.*9C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026477" "00000018" "00" "2891" "0" "2891" "0" "n.2891C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026478" "00000006" "00" "2893" "0" "2893" "0" "c.2893G>A" "" "p.(Gly965Arg)" "r.(?)" "" "" "" "" "" "-" "0000026478" "00000017" "00" "2602" "0" "2602" "0" "c.2602G>A" "" "p.(Gly868Arg)" "r.(?)" "" "" "" "" "" "-" "0000026478" "00000018" "00" "2817" "0" "2817" "0" "n.2817G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026479" "00000006" "00" "2871" "0" "2871" "0" "c.2871A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026479" "00000017" "00" "2580" "0" "2580" "0" "c.2580A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026479" "00000018" "00" "2795" "0" "2795" "0" "n.2795A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026480" "00000006" "00" "2860" "0" "2860" "0" "c.2860G>A" "" "p.(Ala954Thr)" "r.(?)" "" "" "" "" "" "-" "0000026480" "00000017" "00" "2569" "0" "2569" "0" "c.2569G>A" "" "p.(Ala857Thr)" "r.(?)" "" "" "" "" "" "-" "0000026480" "00000018" "00" "2784" "0" "2784" "0" "n.2784G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026481" "00000006" "00" "2794" "0" "2794" "0" "c.2794G>A" "" "p.(Gly932Ser)" "r.(?)" "" "" "" "" "" "-" "0000026481" "00000017" "00" "2503" "0" "2503" "0" "c.2503G>A" "" "p.(Gly835Ser)" "r.(?)" "" "" "" "" "" "-" "0000026481" "00000018" "00" "2718" "0" "2718" "0" "n.2718G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026482" "00000006" "00" "2701" "0" "2701" "0" "c.2701C>T" "" "p.(Arg901Trp)" "r.(?)" "" "" "" "" "" "-" "0000026482" "00000017" "00" "2410" "0" "2410" "0" "c.2410C>T" "" "p.(Arg804Trp)" "r.(?)" "" "" "" "" "" "-" "0000026482" "00000018" "00" "2625" "0" "2625" "0" "n.2625C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026483" "00000006" "00" "2683" "-1" "2683" "-1" "c.2683-1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026483" "00000017" "00" "2392" "-1" "2392" "-1" "c.2392-1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026483" "00000018" "00" "2607" "-1" "2607" "-1" "n.2607-1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026484" "00000006" "00" "2679" "0" "2679" "0" "c.2679C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026484" "00000017" "00" "2388" "0" "2388" "0" "c.2388C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026484" "00000018" "00" "2603" "0" "2603" "0" "n.2603C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026485" "00000006" "00" "2607" "0" "2607" "0" "c.2607G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026485" "00000017" "00" "2316" "0" "2316" "0" "c.2316G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026485" "00000018" "00" "2531" "0" "2531" "0" "n.2531G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026486" "00000006" "00" "2548" "0" "2548" "0" "c.2548A>G" "" "p.(Met850Val)" "r.(?)" "" "" "" "" "" "-" "0000026486" "00000017" "00" "2257" "0" "2257" "0" "c.2257A>G" "" "p.(Met753Val)" "r.(?)" "" "" "" "" "" "-" "0000026486" "00000018" "00" "2472" "0" "2472" "0" "n.2472A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026487" "00000006" "00" "2440" "0" "2440" "0" "c.2440G>A" "" "p.(Val814Met)" "r.(?)" "" "" "" "" "" "-" "0000026487" "00000017" "00" "2149" "0" "2149" "0" "c.2149G>A" "" "p.(Val717Met)" "r.(?)" "" "" "" "" "" "-" "0000026487" "00000018" "00" "2364" "0" "2364" "0" "n.2364G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026488" "00000006" "00" "2426" "0" "2426" "0" "c.2426T>A" "" "p.(Leu809Gln)" "r.(?)" "" "" "" "" "" "-" "0000026488" "00000017" "00" "2135" "0" "2135" "0" "c.2135T>A" "" "p.(Leu712Gln)" "r.(?)" "" "" "" "" "" "-" "0000026488" "00000018" "00" "2350" "0" "2350" "0" "n.2350T>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026489" "00000006" "00" "2266" "0" "2266" "0" "c.2266C>T" "" "p.(Arg756Cys)" "r.(?)" "" "" "" "" "" "-" "0000026489" "00000017" "00" "1975" "0" "1975" "0" "c.1975C>T" "" "p.(Arg659Cys)" "r.(?)" "" "" "" "" "" "-" "0000026489" "00000018" "00" "2190" "0" "2190" "0" "n.2190C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026490" "00000006" "00" "2202" "0" "2202" "0" "c.2202G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026490" "00000017" "00" "1911" "0" "1911" "0" "c.1911G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026490" "00000018" "00" "2179" "167" "2179" "167" "n.2179+167G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026491" "00000006" "00" "2188" "0" "2188" "0" "c.2188G>A" "" "p.(Val730Met)" "r.(?)" "" "" "" "" "" "-" "0000026491" "00000017" "00" "1897" "0" "1897" "0" "c.1897G>A" "" "p.(Val633Met)" "r.(?)" "" "" "" "" "" "-" "0000026491" "00000018" "00" "2179" "153" "2179" "153" "n.2179+153G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026492" "00000006" "00" "2146" "-11" "2146" "-11" "c.2146-11C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026492" "00000017" "00" "1855" "-11" "1855" "-11" "c.1855-11C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026492" "00000018" "00" "2179" "100" "2179" "100" "n.2179+100C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026493" "00000006" "00" "2132" "0" "2132" "0" "c.2132G>A" "" "p.(Arg711His)" "r.(?)" "" "" "" "" "" "-" "0000026493" "00000017" "00" "1841" "0" "1841" "0" "c.1841G>A" "" "p.(Arg614His)" "r.(?)" "" "" "" "" "" "-" "0000026493" "00000018" "00" "2166" "0" "2166" "0" "n.2166G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026494" "00000006" "00" "2027" "0" "2027" "0" "c.2027A>C" "" "p.(Gln676Pro)" "r.(?)" "" "" "" "" "" "-" "0000026494" "00000017" "00" "1736" "0" "1736" "0" "c.1736A>C" "" "p.(Gln579Pro)" "r.(?)" "" "" "" "" "" "-" "0000026494" "00000018" "00" "2061" "0" "2061" "0" "n.2061A>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026495" "00000006" "00" "2007" "8" "2007" "8" "c.2007+8C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026495" "00000017" "00" "1716" "8" "1716" "8" "c.1716+8C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026495" "00000018" "00" "2041" "8" "2041" "8" "n.2041+8C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026496" "00000006" "00" "1753" "-13" "1753" "-13" "c.1753-13T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026496" "00000017" "00" "1462" "-13" "1462" "-13" "c.1462-13T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026496" "00000018" "00" "1787" "-13" "1787" "-13" "n.1787-13T>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026497" "00000006" "00" "1753" "-14" "1753" "-14" "c.1753-14C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026497" "00000017" "00" "1462" "-14" "1462" "-14" "c.1462-14C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026497" "00000018" "00" "1787" "-14" "1787" "-14" "n.1787-14C>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026498" "00000006" "00" "1752" "0" "1752" "0" "c.1752G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026498" "00000017" "00" "1461" "0" "1461" "0" "c.1461G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026498" "00000018" "00" "1786" "0" "1786" "0" "n.1786G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026499" "00000006" "00" "1682" "0" "1682" "0" "c.1682G>C" "" "p.(Arg561Thr)" "r.(?)" "" "" "" "" "" "-" "0000026499" "00000017" "00" "1391" "0" "1391" "0" "c.1391G>C" "" "p.(Arg464Thr)" "r.(?)" "" "" "" "" "" "-" "0000026499" "00000018" "00" "1716" "0" "1716" "0" "n.1716G>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026500" "00000006" "00" "1661" "0" "1661" "0" "c.1661G>A" "" "p.(Arg554His)" "r.(?)" "" "" "" "" "" "-" "0000026500" "00000017" "00" "1370" "0" "1370" "0" "c.1370G>A" "" "p.(Arg457His)" "r.(?)" "" "" "" "" "" "-" "0000026500" "00000018" "00" "1695" "0" "1695" "0" "n.1695G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026501" "00000006" "00" "1644" "0" "1644" "0" "c.1644C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026501" "00000017" "00" "1353" "0" "1353" "0" "c.1353C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026501" "00000018" "00" "1678" "0" "1678" "0" "n.1678C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026502" "00000006" "00" "1621" "0" "1621" "0" "c.1621G>A" "" "p.(Glu541Lys)" "r.(?)" "" "" "" "" "" "-" "0000026502" "00000017" "00" "1330" "0" "1330" "0" "c.1330G>A" "" "p.(Glu444Lys)" "r.(?)" "" "" "" "" "" "-" "0000026502" "00000018" "00" "1655" "0" "1655" "0" "n.1655G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026503" "00000006" "00" "1569" "0" "1569" "0" "c.1569C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026503" "00000017" "00" "1278" "0" "1278" "0" "c.1278C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026503" "00000018" "00" "1603" "0" "1603" "0" "n.1603C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026504" "00000006" "00" "1444" "0" "1444" "0" "c.1444C>T" "" "p.(Arg482Trp)" "r.(?)" "" "" "" "" "" "-" "0000026504" "00000017" "00" "1153" "0" "1153" "0" "c.1153C>T" "" "p.(Arg385Trp)" "r.(?)" "" "" "" "" "" "-" "0000026504" "00000018" "00" "1478" "0" "1478" "0" "n.1478C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026505" "00000006" "00" "1387" "0" "1387" "0" "c.1387C>T" "" "p.(Gln463*)" "r.(?)" "" "" "" "" "" "-" "0000026505" "00000017" "00" "1096" "0" "1096" "0" "c.1096C>T" "" "p.(Gln366*)" "r.(?)" "" "" "" "" "" "-" "0000026505" "00000018" "00" "1421" "0" "1421" "0" "n.1421C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026506" "00000006" "00" "1213" "0" "1213" "0" "c.1213G>A" "" "p.(Glu405Lys)" "r.(?)" "" "" "" "" "" "-" "0000026506" "00000017" "00" "922" "0" "922" "0" "c.922G>A" "" "p.(Glu308Lys)" "r.(?)" "" "" "" "" "" "-" "0000026506" "00000018" "00" "1247" "0" "1247" "0" "n.1247G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026507" "00000006" "00" "1196" "0" "1196" "0" "c.1196A>G" "" "p.(Asn399Ser)" "r.(?)" "" "" "" "" "" "-" "0000026507" "00000017" "00" "905" "0" "905" "0" "c.905A>G" "" "p.(Asn302Ser)" "r.(?)" "" "" "" "" "" "-" "0000026507" "00000018" "00" "1230" "0" "1230" "0" "n.1230A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026508" "00000006" "00" "1192" "0" "1192" "0" "c.1192G>A" "" "p.(Ala398Thr)" "r.(?)" "" "" "" "" "" "-" "0000026508" "00000017" "00" "901" "0" "901" "0" "c.901G>A" "" "p.(Ala301Thr)" "r.(?)" "" "" "" "" "" "-" "0000026508" "00000018" "00" "1226" "0" "1226" "0" "n.1226G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026509" "00000006" "00" "1189" "-16" "1189" "-14" "c.1189-16_1189-14del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026509" "00000017" "00" "898" "-16" "898" "-14" "c.898-16_898-14del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026509" "00000018" "00" "1223" "-16" "1223" "-14" "n.1223-16_1223-14del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026510" "00000006" "00" "1084" "0" "1084" "0" "c.1084A>T" "" "p.(Met362Leu)" "r.(?)" "" "" "" "" "" "-" "0000026510" "00000017" "00" "793" "0" "793" "0" "c.793A>T" "" "p.(Met265Leu)" "r.(?)" "" "" "" "" "" "-" "0000026510" "00000018" "00" "1118" "0" "1118" "0" "n.1118A>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026511" "00000006" "00" "1040" "1" "1040" "1" "c.1040+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026511" "00000017" "00" "750" "-217" "750" "-217" "c.750-217G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026511" "00000018" "00" "1074" "1" "1074" "1" "n.1074+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026512" "00000006" "00" "967" "0" "967" "0" "c.967G>A" "" "p.(Val323Met)" "r.(?)" "" "" "" "" "" "-" "0000026512" "00000017" "00" "750" "-291" "750" "-291" "c.750-291G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026512" "00000018" "00" "1001" "0" "1001" "0" "n.1001G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026513" "00000006" "00" "915" "0" "915" "0" "c.915C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026513" "00000017" "00" "750" "-343" "750" "-343" "c.750-343C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026513" "00000018" "00" "949" "0" "949" "0" "n.949C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026514" "00000006" "00" "879" "0" "879" "0" "c.879C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026514" "00000017" "00" "749" "680" "749" "680" "c.749+680C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026514" "00000018" "00" "913" "0" "913" "0" "n.913C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026515" "00000006" "00" "872" "0" "872" "0" "c.872C>T" "" "p.(Pro291Leu)" "r.(?)" "" "" "" "" "" "-" "0000026515" "00000017" "00" "749" "673" "749" "673" "c.749+673C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026515" "00000018" "00" "906" "0" "906" "0" "n.906C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026516" "00000006" "00" "861" "0" "861" "0" "c.861C>A" "" "p.(Asp287Glu)" "r.(?)" "" "" "" "" "" "-" "0000026516" "00000017" "00" "749" "662" "749" "662" "c.749+662C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026516" "00000018" "00" "895" "0" "895" "0" "n.895C>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026517" "00000006" "00" "785" "0" "785" "0" "c.785G>A" "" "p.(Arg262Gln)" "r.(?)" "" "" "" "" "" "-" "0000026517" "00000017" "00" "749" "586" "749" "586" "c.749+586G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026517" "00000018" "00" "819" "0" "819" "0" "n.819G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026518" "00000006" "00" "761" "0" "761" "0" "c.761G>C" "" "p.(Gly254Ala)" "r.(?)" "" "" "" "" "" "-" "0000026518" "00000017" "00" "749" "562" "749" "562" "c.749+562G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026518" "00000018" "00" "795" "0" "795" "0" "n.795G>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026519" "00000006" "00" "420" "0" "420" "0" "c.420G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026519" "00000017" "00" "420" "0" "420" "0" "c.420G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026519" "00000018" "00" "454" "0" "454" "0" "n.454G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026520" "00000006" "00" "408" "0" "408" "0" "c.408T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026520" "00000017" "00" "408" "0" "408" "0" "c.408T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026520" "00000018" "00" "442" "0" "442" "0" "n.442T>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026521" "00000006" "00" "268" "0" "268" "0" "c.268G>C" "" "p.(Val90Leu)" "r.(?)" "" "" "" "" "" "-" "0000026521" "00000017" "00" "268" "0" "268" "0" "c.268G>C" "" "p.(Val90Leu)" "r.(?)" "" "" "" "" "" "-" "0000026521" "00000018" "00" "302" "0" "302" "0" "n.302G>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026522" "00000006" "00" "243" "6" "243" "6" "c.243+6G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026522" "00000017" "00" "243" "6" "243" "6" "c.243+6G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026522" "00000018" "00" "277" "6" "277" "6" "n.277+6G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026523" "00000006" "00" "149" "0" "149" "0" "c.149T>G" "" "p.(Phe50Cys)" "r.(?)" "" "" "" "" "" "-" "0000026523" "00000017" "00" "149" "0" "149" "0" "c.149T>G" "" "p.(Phe50Cys)" "r.(?)" "" "" "" "" "" "-" "0000026523" "00000018" "00" "183" "0" "183" "0" "n.183T>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026524" "00000006" "00" "25" "0" "25" "0" "c.25G>A" "" "p.(Ala9Thr)" "r.(?)" "" "" "" "" "" "-" "0000026524" "00000017" "00" "25" "0" "25" "0" "c.25G>A" "" "p.(Ala9Thr)" "r.(?)" "" "" "" "" "" "-" "0000026524" "00000018" "00" "59" "0" "59" "0" "n.59G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026525" "00000006" "00" "22" "0" "22" "0" "c.22G>T" "" "p.(Ala8Ser)" "r.(?)" "" "" "" "" "" "-" "0000026525" "00000017" "00" "22" "0" "22" "0" "c.22G>T" "" "p.(Ala8Ser)" "r.(?)" "" "" "" "" "" "-" "0000026525" "00000018" "00" "56" "0" "56" "0" "n.56G>T" "" "-" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0