### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = APTX) # 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}}" "APTX" "aprataxin" "9" "p13.3" "unknown" "NC_000009.11" "UD_132118481045" "" "" "" "1" "1" "15984" "54840" "606350" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:44:12" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00000033" "APTX" "transcript variant 8" "001" "NM_001195250.1" "" "NP_001182179.1" "" "" "" "-37" "1801" "909" "33001639" "32972604" "00001" "2013-11-07 13:44:59" "" "" "" "9" "00000034" "APTX" "transcript variant 12" "002" "NR_036576.1" "" "" "" "" "" "1" "1995" "1995" "33001639" "32972604" "00001" "2013-11-07 13:44:59" "" "" "" "9" "00000035" "APTX" "transcript variant 13" "003" "NR_036577.1" "" "" "" "" "" "1" "1885" "1885" "33001639" "32972604" "00001" "2013-11-07 13:44:59" "" "" "" "9" "00000036" "APTX" "transcript variant 11" "004" "NM_001195252.1" "" "NP_001182181.1" "" "" "" "-37" "1747" "855" "33001639" "32972604" "00001" "2013-11-07 13:44:59" "" "" "" "9" "00000037" "APTX" "transcript variant 6" "005" "NM_001195248.1" "" "NP_001182177.1" "" "" "" "-37" "1963" "1071" "33001639" "32972604" "00001" "2013-11-07 13:44:59" "" "" "" "9" "00000038" "APTX" "transcript variant 2" "006" "NM_175069.2" "" "NP_778239.1" "" "" "" "-37" "1999" "921" "33001639" "32972604" "00001" "2013-11-07 13:44:59" "" "" "" "9" "00000039" "APTX" "transcript variant 1" "007" "NM_175073.2" "" "NP_778243.1" "" "" "" "-185" "1921" "1029" "33001639" "32972604" "00001" "2013-11-07 13:44:59" "" "" "" "9" "00000040" "APTX" "transcript variant 9" "008" "NM_001195251.1" "" "NP_001182180.1" "" "" "" "-185" "1957" "879" "33001639" "32972604" "00001" "2013-11-07 13:44:59" "" "" "" "9" "00000041" "APTX" "transcript variant 10" "009" "NM_001195254.1" "" "NP_001182183.1" "" "" "" "-101" "1759" "867" "33001610" "32972604" "00001" "2013-11-07 13:44:59" "" "" "" "9" "00000042" "APTX" "transcript variant 14" "010" "NR_036578.1" "" "" "" "" "" "1" "2017" "2017" "33001610" "32972604" "00001" "2013-11-07 13:44:59" "" "" "" "9" "00000043" "APTX" "transcript variant 15" "011" "NR_036579.1" "" "" "" "" "" "1" "2164" "2164" "33001574" "32972604" "00001" "2013-11-07 13:44:59" "" "" "" "9" "00000044" "APTX" "transcript variant 7" "012" "NM_001195249.1" "" "NP_001182178.1" "" "" "" "-248" "1921" "1029" "33001574" "32972604" "00001" "2013-11-07 13:44:59" "" "" "" "9" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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 = 25 "{{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}}" "0000026744" "0" "00" "9" "32972638" "32972638" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:29:11" "APTX_000025" "g.32972638G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026745" "0" "00" "9" "32972644" "32972645" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:28:37" "APTX_000024" "g.32972644_32972645del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026746" "0" "00" "9" "32972662" "32972662" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:57:40" "APTX_000023" "g.32972662G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026747" "0" "00" "9" "32972690" "32972690" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-05-24 02:51:13" "APTX_000013" "g.32972690C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026748" "0" "00" "9" "32972890" "32972890" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:19:04" "APTX_000014" "g.32972890C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026749" "0" "00" "9" "32972891" "32972891" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:20:06" "APTX_000015" "g.32972891C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026750" "0" "00" "9" "32973042" "32973042" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:21:06" "APTX_000016" "g.32973042C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026751" "0" "00" "9" "32973133" "32973133" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:22:05" "APTX_000017" "g.32973133G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026752" "0" "00" "9" "32973309" "32973309" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-15 11:55:20" "APTX_000018" "g.32973309C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026753" "0" "00" "9" "32973554" "32973554" "subst" "35" "0.00176841" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:24:11" "APTX_000019" "g.32973554T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026754" "0" "00" "9" "32974442" "32974442" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:25:02" "APTX_000020" "g.32974442G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026755" "0" "00" "9" "32974570" "32974571" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:25:50" "APTX_000021" "g.32974570_32974571insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026756" "0" "00" "9" "32984637" "32984637" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 06:26:40" "APTX_000022" "g.32984637C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026757" "0" "00" "9" "32984657" "32984657" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:01:49" "APTX_000001" "g.32984657A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026758" "0" "00" "9" "32984659" "32984659" "subst" "35" "0.000153775" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:02:32" "APTX_000002" "g.32984659C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026759" "0" "00" "9" "32986033" "32986053" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:03:15" "APTX_000003" "g.32986033_32986053del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026760" "0" "00" "9" "32986039" "32986040" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:03:57" "APTX_000004" "g.32986039_32986040insC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026761" "0" "00" "9" "32986040" "32986040" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:04:40" "APTX_000005" "g.32986040A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026762" "0" "00" "9" "32986041" "32986041" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:05:22" "APTX_000006" "g.32986041C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026763" "0" "00" "9" "32987650" "32987650" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-07-15 03:38:52" "APTX_000007" "g.32987650T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026764" "0" "00" "9" "32987842" "32987842" "subst" "35" "0.000153775" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:06:48" "APTX_000008" "g.32987842T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026765" "0" "00" "9" "32988139" "32988139" "subst" "35" "0.00030755" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:07:30" "APTX_000009" "g.32988139T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026766" "0" "00" "9" "32989810" "32989810" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:08:13" "APTX_000010" "g.32989810A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026767" "0" "00" "9" "32989872" "32989872" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:08:56" "APTX_000011" "g.32989872C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026768" "0" "00" "9" "33001563" "33001563" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:09:38" "APTX_000012" "g.33001563A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 300 "{{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}}" "0000026744" "00000033" "00" "1767" "0" "1767" "0" "c.*858C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026744" "00000034" "00" "1961" "0" "1961" "0" "n.1961C>G" "" "" "" "" "" "" "" "" "-" "0000026744" "00000035" "00" "1851" "0" "1851" "0" "n.1851C>G" "" "" "" "" "" "" "" "" "-" "0000026744" "00000036" "00" "1713" "0" "1713" "0" "c.*858C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026744" "00000037" "00" "1929" "0" "1929" "0" "c.*858C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026744" "00000038" "00" "1965" "0" "1965" "0" "c.*1044C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026744" "00000039" "00" "1887" "0" "1887" "0" "c.*858C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026744" "00000040" "00" "1923" "0" "1923" "0" "c.*1044C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026744" "00000041" "00" "1725" "0" "1725" "0" "c.*858C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026744" "00000042" "00" "1983" "0" "1983" "0" "n.1983C>G" "" "" "" "" "" "" "" "" "-" "0000026744" "00000043" "00" "2130" "0" "2130" "0" "n.2130C>G" "" "" "" "" "" "" "" "" "-" "0000026744" "00000044" "00" "1887" "0" "1887" "0" "c.*858C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026745" "00000033" "00" "1760" "0" "1761" "0" "c.*851_*852del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026745" "00000034" "00" "1954" "0" "1955" "0" "n.1954_1955del" "" "" "" "" "" "" "" "" "-" "0000026745" "00000035" "00" "1844" "0" "1845" "0" "n.1844_1845del" "" "" "" "" "" "" "" "" "-" "0000026745" "00000036" "00" "1706" "0" "1707" "0" "c.*851_*852del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026745" "00000037" "00" "1922" "0" "1923" "0" "c.*851_*852del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026745" "00000038" "00" "1958" "0" "1959" "0" "c.*1037_*1038del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026745" "00000039" "00" "1880" "0" "1881" "0" "c.*851_*852del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026745" "00000040" "00" "1916" "0" "1917" "0" "c.*1037_*1038del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026745" "00000041" "00" "1718" "0" "1719" "0" "c.*851_*852del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026745" "00000042" "00" "1976" "0" "1977" "0" "n.1976_1977del" "" "" "" "" "" "" "" "" "-" "0000026745" "00000043" "00" "2123" "0" "2124" "0" "n.2123_2124del" "" "" "" "" "" "" "" "" "-" "0000026745" "00000044" "00" "1880" "0" "1881" "0" "c.*851_*852del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026746" "00000033" "00" "1743" "0" "1743" "0" "c.*834C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026746" "00000034" "00" "1937" "0" "1937" "0" "n.1937C>G" "" "" "" "" "" "" "" "" "-" "0000026746" "00000035" "00" "1827" "0" "1827" "0" "n.1827C>G" "" "" "" "" "" "" "" "" "-" "0000026746" "00000036" "00" "1689" "0" "1689" "0" "c.*834C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026746" "00000037" "00" "1905" "0" "1905" "0" "c.*834C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026746" "00000038" "00" "1941" "0" "1941" "0" "c.*1020C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026746" "00000039" "00" "1863" "0" "1863" "0" "c.*834C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026746" "00000040" "00" "1899" "0" "1899" "0" "c.*1020C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026746" "00000041" "00" "1701" "0" "1701" "0" "c.*834C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026746" "00000042" "00" "1959" "0" "1959" "0" "n.1959C>G" "" "" "" "" "" "" "" "" "-" "0000026746" "00000043" "00" "2106" "0" "2106" "0" "n.2106C>G" "" "" "" "" "" "" "" "" "-" "0000026746" "00000044" "00" "1863" "0" "1863" "0" "c.*834C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026747" "00000033" "00" "1715" "0" "1715" "0" "c.*806G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026747" "00000034" "00" "1909" "0" "1909" "0" "n.1909G>A" "" "" "" "" "" "" "" "" "-" "0000026747" "00000035" "00" "1799" "0" "1799" "0" "n.1799G>A" "" "" "" "" "" "" "" "" "-" "0000026747" "00000036" "00" "1661" "0" "1661" "0" "c.*806G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026747" "00000037" "00" "1877" "0" "1877" "0" "c.*806G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026747" "00000038" "00" "1913" "0" "1913" "0" "c.*992G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026747" "00000039" "00" "1835" "0" "1835" "0" "c.*806G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026747" "00000040" "00" "1871" "0" "1871" "0" "c.*992G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026747" "00000041" "00" "1673" "0" "1673" "0" "c.*806G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026747" "00000042" "00" "1931" "0" "1931" "0" "n.1931G>A" "" "" "" "" "" "" "" "" "-" "0000026747" "00000043" "00" "2078" "0" "2078" "0" "n.2078G>A" "" "" "" "" "" "" "" "" "-" "0000026747" "00000044" "00" "1835" "0" "1835" "0" "c.*806G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026748" "00000033" "00" "1515" "0" "1515" "0" "c.*606G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026748" "00000034" "00" "1709" "0" "1709" "0" "n.1709G>A" "" "" "" "" "" "" "" "" "-" "0000026748" "00000035" "00" "1599" "0" "1599" "0" "n.1599G>A" "" "" "" "" "" "" "" "" "-" "0000026748" "00000036" "00" "1461" "0" "1461" "0" "c.*606G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026748" "00000037" "00" "1677" "0" "1677" "0" "c.*606G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026748" "00000038" "00" "1713" "0" "1713" "0" "c.*792G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026748" "00000039" "00" "1635" "0" "1635" "0" "c.*606G>A" "" "p.(=)" 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"" "" "" "" "-" "0000026752" "00000043" "00" "1459" "0" "1459" "0" "n.1459G>C" "" "" "" "" "" "" "" "" "-" "0000026752" "00000044" "00" "1216" "0" "1216" "0" "c.*187G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026753" "00000033" "00" "851" "0" "851" "0" "c.851A>T" "" "p.(Gln284Leu)" "r.(?)" "" "" "" "" "" "-" "0000026753" "00000034" "00" "1045" "0" "1045" "0" "n.1045A>T" "" "" "" "" "" "" "" "" "-" "0000026753" "00000035" "00" "935" "0" "935" "0" "n.935A>T" "" "" "" "" "" "" "" "" "-" "0000026753" "00000036" "00" "797" "0" "797" "0" "c.797A>T" "" "p.(Gln266Leu)" "r.(?)" "" "" "" "" "" "-" "0000026753" "00000037" "00" "1013" "0" "1013" "0" "c.1013A>T" "" "p.(Gln338Leu)" "r.(?)" "" "" "" "" "" "-" "0000026753" "00000038" "00" "1049" "0" "1049" "0" "c.*128A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026753" "00000039" "00" "971" "0" "971" "0" "c.971A>T" "" "p.(Gln324Leu)" "r.(?)" "" "" "" "" "" "-" "0000026753" "00000040" "00" "1007" "0" "1007" "0" "c.*128A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026753" "00000041" "00" "809" "0" "809" "0" "c.809A>T" "" "p.(Gln270Leu)" "r.(?)" "" "" "" "" "" "-" "0000026753" "00000042" "00" "1067" "0" "1067" "0" "n.1067A>T" "" "" "" "" "" "" "" "" "-" "0000026753" "00000043" "00" "1214" "0" "1214" "0" "n.1214A>T" "" "" "" "" "" "" "" "" "-" "0000026753" "00000044" "00" "971" "0" "971" "0" "c.971A>T" "" "p.(Gln324Leu)" "r.(?)" "" "" "" "" "" "-" "0000026754" "00000033" "00" "754" "14" "754" "14" "c.754+14C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026754" "00000034" "00" "948" "14" "948" "14" "n.948+14C>G" "" "" "" "" "" "" "" "" "-" "0000026754" "00000035" "00" "838" "14" "838" "14" "n.838+14C>G" "" "" "" "" "" "" "" "" "-" "0000026754" "00000036" "00" "700" "14" "700" "14" "c.700+14C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026754" "00000037" "00" "916" "14" "916" "14" "c.916+14C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026754" "00000038" "00" "916" "14" "916" "14" "c.916+14C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026754" "00000039" "00" "874" "14" "874" "14" "c.874+14C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026754" "00000040" "00" "874" "14" "874" "14" "c.874+14C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026754" "00000041" "00" "712" "14" "712" "14" "c.712+14C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026754" "00000042" "00" "970" "14" "970" "14" "n.970+14C>G" "" "" "" "" "" "" "" "" "-" "0000026754" "00000043" "00" "1117" "14" "1117" "14" "n.1117+14C>G" "" "" "" "" "" "" "" "" "-" "0000026754" "00000044" "00" "874" "14" "874" "14" "c.874+14C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026755" "00000033" "00" "651" "-12" "651" "-11" "c.651-12_651-11insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026755" "00000034" "00" "845" "-12" "845" "-11" "n.845-12_845-11insT" "" "" "" "" "" "" "" "" "-" "0000026755" "00000035" "00" "735" "-12" "735" "-11" "n.735-12_735-11insT" "" "" "" "" "" "" "" "" "-" "0000026755" "00000036" "00" "597" "-12" "597" "-11" "c.597-12_597-11insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026755" "00000037" "00" "813" "-12" "813" "-11" "c.813-12_813-11insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026755" "00000038" "00" "813" "-12" "813" "-11" "c.813-12_813-11insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026755" "00000039" "00" "771" "-12" "771" "-11" "c.771-12_771-11insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026755" "00000040" "00" "771" "-12" "771" "-11" "c.771-12_771-11insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026755" "00000041" "00" "609" "-12" "609" "-11" "c.609-12_609-11insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026755" "00000042" "00" "867" "-12" "867" "-11" "n.867-12_867-11insT" "" "" "" "" "" "" "" "" "-" "0000026755" "00000043" "00" "1014" "-12" "1014" "-11" "n.1014-12_1014-11insT" "" "" "" "" "" "" "" "" "-" "0000026755" "00000044" "00" "771" "-12" "771" "-11" "c.771-12_771-11insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026756" "00000033" "00" "642" "0" "642" "0" "c.642G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026756" "00000034" "00" "836" "0" "836" "0" "n.836G>A" "" "" "" "" "" "" "" "" "-" "0000026756" "00000035" "00" "726" "0" "726" "0" "n.726G>A" "" "" "" "" "" "" "" "" "-" "0000026756" "00000036" "00" "588" "0" "588" "0" "c.588G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026756" "00000037" "00" "804" "0" "804" "0" "c.804G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026756" "00000038" "00" "804" "0" "804" "0" "c.804G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026756" "00000039" "00" "762" "0" "762" "0" "c.762G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026756" "00000040" "00" "762" "0" "762" "0" "c.762G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026756" "00000041" "00" "600" "0" "600" "0" "c.600G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026756" "00000042" "00" "858" "0" "858" "0" "n.858G>A" "" "" "" "" "" "" "" "" "-" "0000026756" "00000043" "00" "1005" "0" "1005" "0" "n.1005G>A" "" "" "" "" "" "" "" "" "-" "0000026756" "00000044" "00" "762" "0" "762" "0" "c.762G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026757" "00000033" "00" "622" "0" "622" "0" "c.622T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026757" "00000034" "00" "816" "0" "816" "0" "n.816T>C" "" "" "" "" "" "" "" "" "-" "0000026757" "00000035" "00" "706" "0" "706" "0" "n.706T>C" "" "" "" "" "" "" "" "" "-" "0000026757" "00000036" "00" "568" "0" "568" "0" "c.568T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026757" "00000037" "00" "784" "0" "784" "0" "c.784T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026757" "00000038" "00" "784" "0" "784" "0" "c.784T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026757" "00000039" "00" "742" "0" "742" "0" "c.742T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026757" "00000040" "00" "742" "0" "742" "0" "c.742T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026757" "00000041" "00" "580" "0" "580" "0" "c.580T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026757" "00000042" "00" "838" "0" "838" "0" "n.838T>C" "" "" "" "" "" "" "" "" "-" "0000026757" "00000043" "00" "985" "0" "985" "0" "n.985T>C" "" "" "" "" "" "" "" "" "-" "0000026757" "00000044" "00" "742" "0" "742" "0" "c.742T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026758" "00000033" "00" "620" "0" "620" "0" "c.620G>A" "" "p.(Arg207Gln)" "r.(?)" "" "" "" "" "" "-" "0000026758" "00000034" "00" "814" "0" "814" "0" "n.814G>A" "" "" "" "" "" "" "" "" "-" "0000026758" "00000035" "00" "704" "0" "704" "0" "n.704G>A" "" "" "" "" "" "" "" "" "-" "0000026758" "00000036" "00" "566" "0" "566" "0" "c.566G>A" "" "p.(Arg189Gln)" "r.(?)" "" "" "" "" "" "-" "0000026758" "00000037" "00" "782" "0" "782" "0" "c.782G>A" "" "p.(Arg261Gln)" "r.(?)" "" "" "" "" "" "-" "0000026758" "00000038" "00" "782" "0" "782" "0" "c.782G>A" "" "p.(Arg261Gln)" "r.(?)" "" "" "" "" "" "-" "0000026758" "00000039" "00" "740" "0" "740" "0" "c.740G>A" "" "p.(Arg247Gln)" "r.(?)" "" "" "" "" "" "-" "0000026758" "00000040" "00" "740" "0" "740" "0" "c.740G>A" "" "p.(Arg247Gln)" "r.(?)" "" "" "" "" "" "-" "0000026758" "00000041" "00" "578" "0" "578" "0" "c.578G>A" "" "p.(Arg193Gln)" "r.(?)" "" "" "" "" "" "-" "0000026758" "00000042" "00" "836" "0" "836" "0" "n.836G>A" "" "" "" "" "" "" "" "" "-" "0000026758" "00000043" "00" "983" "0" "983" "0" "n.983G>A" "" "" "" "" "" "" "" "" "-" "0000026758" "00000044" "00" "740" "0" "740" "0" "c.740G>A" "" "p.(Arg247Gln)" "r.(?)" "" "" "" "" "" "-" "0000026759" "00000033" "00" "364" "-25" "364" "-5" "c.364-25_364-5del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026759" "00000034" "00" "558" "-25" "558" "-5" "n.558-25_558-5del" "" "" "" "" "" "" "" "" "-" "0000026759" "00000035" "00" "448" "-25" "448" "-5" "n.448-25_448-5del" "" "" "" "" "" "" "" "" "-" "0000026759" "00000036" "00" "310" "-25" "310" "-5" "c.310-25_310-5del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026759" "00000037" "00" "526" "-25" "526" "-5" "c.526-25_526-5del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026759" "00000038" "00" "526" "-25" "526" "-5" "c.526-25_526-5del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026759" "00000039" "00" "484" "-25" "484" "-5" "c.484-25_484-5del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026759" "00000040" "00" "484" "-25" "484" "-5" "c.484-25_484-5del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026759" "00000041" "00" "322" "-25" "322" "-5" "c.322-25_322-5del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026759" "00000042" "00" "580" "-25" "580" "-5" "n.580-25_580-5del" "" "" "" "" "" "" "" "" "-" "0000026759" "00000043" "00" "727" "-25" "727" "-5" "n.727-25_727-5del" "" "" "" "" "" "" "" "" "-" "0000026759" "00000044" "00" "484" "-25" "484" "-5" "c.484-25_484-5del" "" "p.?" "r.spl?" 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"" "" "" "" "" "-" "0000026766" "00000034" "00" "159" "0" "159" "0" "n.159T>C" "" "" "" "" "" "" "" "" "-" "0000026766" "00000035" "00" "159" "0" "159" "0" "n.159T>C" "" "" "" "" "" "" "" "" "-" "0000026766" "00000036" "00" "122" "0" "122" "0" "c.122T>C" "" "p.(Ile41Thr)" "r.(?)" "" "" "" "" "" "-" "0000026766" "00000037" "00" "122" "0" "122" "0" "c.122T>C" "" "p.(Ile41Thr)" "r.(?)" "" "" "" "" "" "-" "0000026766" "00000038" "00" "122" "0" "122" "0" "c.122T>C" "" "p.(Ile41Thr)" "r.(?)" "" "" "" "" "" "-" "0000026766" "00000039" "00" "80" "0" "80" "0" "c.80T>C" "" "p.(Ile27Thr)" "r.(?)" "" "" "" "" "" "-" "0000026766" "00000040" "00" "80" "0" "80" "0" "c.80T>C" "" "p.(Ile27Thr)" "r.(?)" "" "" "" "" "" "-" "0000026766" "00000041" "00" "80" "0" "80" "0" "c.80T>C" "" "p.(Ile27Thr)" "r.(?)" "" "" "" "" "" "-" "0000026766" "00000042" "00" "181" "0" "181" "0" "n.181T>C" "" "" "" "" "" "" "" "" "-" "0000026766" "00000043" "00" "328" "0" "328" "0" "n.328T>C" "" "" "" "" "" "" "" "" "-" "0000026766" "00000044" "00" "80" "0" "80" "0" "c.80T>C" "" "p.(Ile27Thr)" "r.(?)" "" "" "" "" "" "-" "0000026767" "00000033" "00" "60" "0" "60" "0" "c.60G>T" "" "p.(Trp20Cys)" "r.(?)" "" "" "" "" "" "-" "0000026767" "00000034" "00" "97" "0" "97" "0" "n.97G>T" "" "" "" "" "" "" "" "" "-" "0000026767" "00000035" "00" "97" "0" "97" "0" "n.97G>T" "" "" "" "" "" "" "" "" "-" "0000026767" "00000036" "00" "60" "0" "60" "0" "c.60G>T" "" "p.(Trp20Cys)" "r.(?)" "" "" "" "" "" "-" "0000026767" "00000037" "00" "60" "0" "60" "0" "c.60G>T" "" "p.(Trp20Cys)" "r.(?)" "" "" "" "" "" "-" "0000026767" "00000038" "00" "60" "0" "60" "0" "c.60G>T" "" "p.(Trp20Cys)" "r.(?)" "" "" "" "" "" "-" "0000026767" "00000039" "00" "18" "0" "18" "0" "c.18G>T" "" "p.(Trp6Cys)" "r.(?)" "" "" "" "" "" "-" "0000026767" "00000040" "00" "18" "0" "18" "0" "c.18G>T" "" "p.(Trp6Cys)" "r.(?)" "" "" "" "" "" "-" "0000026767" "00000041" "00" "18" "0" "18" "0" "c.18G>T" "" "p.(Trp6Cys)" "r.(?)" "" "" "" "" "" "-" "0000026767" "00000042" "00" "119" "0" "119" "0" "n.119G>T" "" "" "" "" "" "" "" "" "-" "0000026767" "00000043" "00" "266" "0" "266" "0" "n.266G>T" "" "" "" "" "" "" "" "" "-" "0000026767" "00000044" "00" "18" "0" "18" "0" "c.18G>T" "" "p.(Trp6Cys)" "r.(?)" "" "" "" "" "" "-" "0000026768" "00000033" "00" "38" "2" "38" "2" "c.38+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026768" "00000034" "00" "75" "2" "75" "2" "n.75+2T>G" "" "" "" "" "" "" "" "" "-" "0000026768" "00000035" "00" "75" "2" "75" "2" "n.75+2T>G" "" "" "" "" "" "" "" "" "-" "0000026768" "00000036" "00" "38" "2" "38" "2" "c.38+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026768" "00000037" "00" "38" "2" "38" "2" "c.38+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026768" "00000038" "00" "38" "2" "38" "2" "c.38+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026768" "00000039" "00" "-111" "2" "-111" "2" "c.-111+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026768" "00000040" "00" "-111" "2" "-111" "2" "c.-111+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026768" "00000041" "00" "-54" "0" "-54" "0" "c.-54T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026768" "00000042" "00" "48" "0" "48" "0" "n.48T>G" "" "" "" "" "" "" "" "" "-" "0000026768" "00000043" "00" "12" "0" "12" "0" "n.12T>G" "" "" "" "" "" "" "" "" "-" "0000026768" "00000044" "00" "-237" "0" "-237" "0" "c.-237T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0