### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNAJC19) # 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}}" "DNAJC19" "DnaJ (Hsp40) homolog, subfamily C, member 19" "3" "q26.33" "unknown" "NC_000003.11" "UD_132118459024" "" "" "" "1" "1" "30528" "131118" "608977" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org " "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 = 7 "{{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}}" "00000096" "DNAJC19" "transcript variant 3" "001" "NR_033721.1" "" "" "" "" "" "1" "1402" "1402" "180707562" "180701497" "00001" "2013-11-07 13:47:41" "" "" "" "3" "00000097" "DNAJC19" "transcript variant 4" "002" "NR_033722.1" "" "" "" "" "" "1" "1374" "1374" "180707562" "180701497" "00001" "2013-11-07 13:47:41" "" "" "" "3" "00000098" "DNAJC19" "transcript variant 5" "003" "NR_033723.1" "" "" "" "" "" "1" "1399" "1399" "180707562" "180701497" "00001" "2013-11-07 13:47:41" "" "" "" "3" "00000099" "DNAJC19" "transcript variant 1" "004" "NM_145261.3" "" "NP_660304.1" "" "" "" "-172" "1282" "351" "180707562" "180701497" "00001" "2013-11-07 13:47:41" "" "" "" "3" "00000100" "DNAJC19" "transcript variant 2" "005" "NM_001190233.1" "" "NP_001177162.1" "" "" "" "-259" "1207" "276" "180707306" "180701497" "00001" "2013-11-07 13:47:41" "" "" "" "3" "00000101" "DNAJC19" "transcript variant 6" "006" "NR_033724.1" "" "" "" "" "" "1" "1144" "1144" "180707562" "180704968" "00001" "2013-11-07 13:47:41" "" "" "" "3" "00000102" "DNAJC19" "transcript variant 7" "007" "NR_033725.1" "" "" "" "" "" "1" "1225" "1225" "180707562" "180704968" "00001" "2013-11-07 13:47:41" "" "" "" "3" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00079" "MGCA5" "3-METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5" "610198" "" "" "" "00001" "2013-11-16 01:00:00" "00001" "2014-03-27 18:05:46" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DNAJC19" "00079" ## 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 = 26 "{{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}}" "0000000973" "0" "55" "3" "180702479" "180702479" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:11:47" "DNAJC19_000002" "g.180702479del" "" "" "" "" "del" "0" ";" "3.430" "" "" "" "" "MSCV_0000973" "" "0000000974" "0" "99" "3" "180704811" "180704811" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:01:34" "DNAJC19_000001" "g.180704811C>G" "" "{PMID:16055927:16055927};{PMID:22981120:22981120}" "" "rs137854888" "subst" "0" "; clinVar; Ensembl;" "5.630" "" "" "" "" "MSCV_0000974" "" "0000005217" "0" "99" "3" "180704811" "180704811" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2017-02-01 18:51:42" "DNAJC19_000001" "g.180704811C>G" "" "{PMID:16055927:16055927};{PMID:22981120:22981120}" "" "rs137854888" "subst" "0" "; ensembl;" "5.630" "" "" "" "" "MSCV_0005217" "" "0000005234" "0" "99" "3" "180704811" "180704811" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:41:14" "00000" "2015-03-12 18:46:41" "DNAJC19_000001" "g.180704811C>G" "" "{PMID:16055927:16055927};{PMID:22981120:22981120}" "" "rs137854888" "subst" "0" "; ensembl;" "5.630" "" "" "" "" "MSCV_0005234" "" "0000020545" "0" "55" "3" "180701736" "180701736" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:15:39" "DNAJC19_000018" "g.180701736A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020545" "" "0000020546" "0" "55" "3" "180701783" "180701783" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:15:45" "DNAJC19_000019" "g.180701783T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020546" "" "0000020547" "0" "00" "3" "180701884" "180701885" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:15:50" "DNAJC19_000020" "g.180701884_180701885insAC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020547" "" "0000020548" "0" "55" "3" "180701912" "180701912" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:15:56" "DNAJC19_000021" "g.180701912T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020548" "" "0000020549" "0" "55" "3" "180701940" "180701940" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-15 06:12:52" "DNAJC19_000022" "g.180701940C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020549" "" "0000020550" "0" "55" "3" "180701987" "180701987" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-08 05:40:32" "DNAJC19_000003" "g.180701987C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020550" "" "0000020551" "0" "55" "3" "180702063" "180702063" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-16 14:18:15" "DNAJC19_000004" "g.180702063A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020551" "" "0000020552" "0" "55" "3" "180702103" "180702103" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:27" "DNAJC19_000005" "g.180702103A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020552" "" "0000020553" "0" "55" "3" "180702216" "180702216" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:33" "DNAJC19_000006" "g.180702216G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020553" "" "0000020554" "0" "00" "3" "180702231" "180702234" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:39" "DNAJC19_000007" "g.180702231_180702234del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020554" "" "0000020555" "0" "11" "3" "180702240" "180702240" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:45" "DNAJC19_000008" "g.180702240C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020555" "" "0000020556" "0" "99" "3" "180702479" "180702479" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:52" "DNAJC19_000002" "g.180702479del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000973" "" "0000020557" "0" "11" "3" "180702494" "180702494" "subst" "35" "0.00300601" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:58" "DNAJC19_000009" "g.180702494T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020557" "" "0000020558" "0" "77" "3" "180702510" "180702510" "subst" "35" "0.000771962" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:07:04" "DNAJC19_000010" "g.180702510A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020558" "" "0000020559" "0" "99" "3" "180704811" "180704811" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:07:10" "DNAJC19_000001" "g.180704811C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000974" "" "0000020560" "0" "55" "3" "180705796" "180705796" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:07:17" "DNAJC19_000011" "g.180705796T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020560" "" "0000020561" "0" "55" "3" "180705822" "180705822" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-08 05:40:32" "DNAJC19_000012" "g.180705822G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020561" "" "0000020562" "0" "77" "3" "180705871" "180705871" "subst" "35" "0.00345994" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:07:28" "DNAJC19_000013" "g.180705871C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020562" "" "0000020563" "0" "55" "3" "180705881" "180705881" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-01 08:15:46" "DNAJC19_000014" "g.180705881C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020563" "" "0000020564" "0" "55" "3" "180707390" "180707390" "subst" "35" "0.0000771962" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:07:42" "DNAJC19_000015" "g.180707390T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020564" "" "0000020565" "0" "77" "3" "180707419" "180707419" "subst" "51" "0.00115812" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-03 15:14:34" "DNAJC19_000016" "g.180707419C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020565" "" "0000020566" "0" "55" "3" "180707511" "180707511" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:07:54" "DNAJC19_000017" "g.180707511G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020566" "" ## 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 = 176 "{{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}}" "0000000973" "00000096" "55" "420" "0" "420" "0" "n.420del" "" "" "" "" "" "" "" "" "-" "0000000973" "00000097" "55" "392" "0" "392" "0" "n.392del" "" "" "" "" "" "" "" "" "-" "0000000973" "00000098" "55" "417" "0" "417" "0" "n.417del" "" "" "" "" "" "" "" "" "-" "0000000973" "00000099" "55" "300" "0" "300" "0" "c.300del" "" "p.(Ala101Profs*10)" "r.(?)" "" "" "" "" "" "-" "0000000973" "00000100" "55" "225" "0" "225" "0" "c.225del" "" "" "" "" "" "" "" "" "-" "0000000973" "00000101" "55" "1144" "2489" "1144" "2489" "n.*2489del" "" "" "" "" "" "" "" "" "-" "0000000973" "00000102" "55" "1225" "2489" "1225" "2489" "n.*2489del" "" "" "" "" "" "" "" "" "-" "0000000974" "00000099" "99" "130" "-1" "130" "-1" "c.130-1G>C" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000005217" "00000096" "00" "250" "-1" "250" "-1" "n.250-1G>C" "-" "" "" "-" "" "splice_acceptor_variant,non_coding_transcript_variant" "" "" "-" "0000005217" "00000097" "00" "301" "1000" "301" "1000" "n.301+1000G>C" "" "" "" "" "" "" "" "" "-" "0000005217" "00000098" "00" "302" "-1" "302" "-1" "n.302-1G>C" "-" "" "" "-" "" "splice_acceptor_variant,non_coding_transcript_variant" "" "" "-" "0000005217" "00000099" "00" "130" "-1" "130" "-1" "c.130-1G>C" "-" "" "" "-" "" "splice_acceptor_variant" "" "" "-" "0000005217" "00000100" "00" "55" "-1" "55" "-1" "c.55-1G>C" "-" "" "" "-" "" "splice_acceptor_variant" "" "" "-" "0000005217" "00000101" "00" "1144" "157" "1144" "157" "n.*157G>C" "" "" "" "" "" "" "" "" "-" "0000005217" "00000102" "00" "1225" "157" "1225" "157" "n.*157G>C" "" "" "" "" "" "" "" "" "-" "0000005234" "00000096" "00" "250" "-1" "250" "-1" "n.250-1G>C" "-" "" "" "-" "" "splice_acceptor_variant,non_coding_transcript_variant" "" "" "-" "0000005234" "00000097" "00" "301" "1000" "301" "1000" "n.301+1000G>C" "" "" "" "" "" "" "" "" "-" "0000005234" "00000098" "00" "302" "-1" "302" "-1" "n.302-1G>C" "-" "" "" "-" "" "splice_acceptor_variant,non_coding_transcript_variant" "" "" "-" "0000005234" "00000099" "00" "130" "-1" "130" "-1" "c.130-1G>C" "-" "" "" "-" "" "splice_acceptor_variant" "" "" "-" "0000005234" "00000100" "00" "55" "-1" "55" "-1" "c.55-1G>C" "-" "" "" "-" "" "splice_acceptor_variant" "" "" "-" "0000005234" "00000101" "00" "1144" "157" "1144" "157" "n.*157G>C" "" "" "" "" "" "" "" "" "-" "0000005234" "00000102" "00" "1225" "157" "1225" "157" "n.*157G>C" "" "" "" "" "" "" "" "" "-" "0000020545" "00000096" "00" "1163" "0" "1163" "0" "n.1163T>C" "" "" "" "" "" "" "" "" "-" "0000020545" "00000097" "00" "1135" "0" "1135" "0" "n.1135T>C" "" "" "" "" "" "" "" "" "-" "0000020545" "00000098" "00" "1160" "0" "1160" "0" "n.1160T>C" "" "" "" "" "" "" "" "" "-" "0000020545" "00000099" "00" "1043" "0" "1043" "0" "c.*692T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020545" "00000100" "00" "968" "0" "968" "0" "c.*692T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020545" "00000101" "00" "1144" "3232" "1144" "3232" "n.*3232T>C" "" "" "" "" "" "" "" "" "-" "0000020545" "00000102" "00" "1225" "3232" "1225" "3232" "n.*3232T>C" "" "" "" "" "" "" "" "" "-" "0000020546" "00000096" "00" "1116" "0" "1116" "0" "n.1116A>C" "" "" "" "" "" "" "" "" "-" "0000020546" "00000097" "00" "1088" "0" "1088" "0" "n.1088A>C" "" "" "" "" "" "" "" "" "-" "0000020546" "00000098" "00" "1113" "0" "1113" "0" "n.1113A>C" "" "" "" "" "" "" "" "" "-" "0000020546" "00000099" "00" "996" "0" "996" "0" "c.*645A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020546" "00000100" "00" "921" "0" "921" "0" "c.*645A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020546" "00000101" "00" "1144" "3185" "1144" "3185" "n.*3185A>C" "" "" "" "" "" "" "" "" "-" "0000020546" "00000102" "00" "1225" "3185" "1225" "3185" "n.*3185A>C" "" "" "" "" "" "" "" "" "-" "0000020547" "00000096" "00" "1014" "0" "1015" "0" "n.1014_1015insGT" "" "" "" "" "" "" "" "" "-" "0000020547" "00000097" "00" "986" "0" "987" "0" "n.986_987insGT" "" "" "" "" "" "" "" "" "-" "0000020547" "00000098" "00" "1011" "0" "1012" "0" "n.1011_1012insGT" "" "" "" "" "" "" "" "" "-" "0000020547" "00000099" "00" "894" "0" "895" "0" "c.*543_*544insGT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020547" "00000100" "00" "819" "0" "820" "0" "c.*543_*544insGT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020547" "00000101" "00" "1144" "3083" "1144" "3084" "n.*3083_*3084insGT" "" "" "" "" "" "" "" "" "-" "0000020547" "00000102" "00" "1225" "3083" "1225" "3084" "n.*3083_*3084insGT" "" "" "" "" "" "" "" "" "-" "0000020548" "00000096" "00" "987" "0" "987" "0" "n.987A>G" "" "" "" "" "" "" "" "" "-" "0000020548" "00000097" "00" "959" "0" "959" "0" "n.959A>G" "" "" "" "" "" "" "" "" "-" "0000020548" "00000098" "00" "984" "0" "984" "0" "n.984A>G" "" "" "" "" "" "" "" "" "-" "0000020548" "00000099" "00" "867" "0" "867" "0" "c.*516A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020548" "00000100" "00" "792" "0" "792" "0" "c.*516A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020548" "00000101" "00" "1144" "3056" "1144" "3056" "n.*3056A>G" "" "" "" "" "" "" "" "" "-" "0000020548" "00000102" "00" "1225" "3056" "1225" "3056" "n.*3056A>G" "" "" "" "" "" "" "" "" "-" "0000020549" "00000096" "00" "959" "0" "959" "0" "n.959G>C" "" "" "" "" "" "" "" "" "-" "0000020549" "00000097" "00" "931" "0" "931" "0" "n.931G>C" "" "" "" "" "" "" "" "" "-" "0000020549" "00000098" "00" "956" "0" "956" "0" "n.956G>C" "" "" "" "" "" "" "" "" "-" "0000020549" "00000099" "00" "839" "0" "839" "0" "c.*488G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020549" "00000100" "00" "764" "0" "764" "0" "c.*488G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020549" "00000101" "00" "1144" "3028" "1144" "3028" "n.*3028G>C" "" "" "" "" "" "" "" "" "-" "0000020549" "00000102" "00" "1225" "3028" "1225" "3028" "n.*3028G>C" "" "" "" "" "" "" "" "" "-" "0000020550" "00000096" "00" "912" "0" "912" "0" "n.912G>A" "" "" "" "" "" "" "" "" "-" "0000020550" "00000097" "00" "884" "0" "884" "0" "n.884G>A" "" "" "" "" "" "" "" "" "-" "0000020550" "00000098" "00" "909" "0" "909" "0" "n.909G>A" "" "" "" "" "" "" "" "" "-" "0000020550" "00000099" "00" "792" "0" "792" "0" "c.*441G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020550" "00000100" "00" "717" "0" "717" "0" "c.*441G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020550" "00000101" "00" "1144" "2981" "1144" "2981" "n.*2981G>A" "" "" "" "" "" "" "" "" "-" "0000020550" "00000102" "00" "1225" "2981" "1225" "2981" "n.*2981G>A" "" "" "" "" "" "" "" "" "-" "0000020551" "00000096" "00" "836" "0" "836" "0" "n.836T>C" "" "" "" "" "" "" "" "" "-" "0000020551" "00000097" "00" "808" "0" "808" "0" "n.808T>C" "" "" "" "" "" "" "" "" "-" "0000020551" "00000098" "00" "833" "0" "833" "0" "n.833T>C" "" "" "" "" "" "" "" "" "-" "0000020551" "00000099" "00" "716" "0" "716" "0" "c.*365T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020551" "00000100" "00" "641" "0" "641" "0" "c.*365T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020551" "00000101" "00" "1144" "2905" "1144" "2905" "n.*2905T>C" "" "" "" "" "" "" "" "" "-" "0000020551" "00000102" "00" "1225" "2905" "1225" "2905" "n.*2905T>C" "" "" "" "" "" "" "" "" "-" "0000020552" "00000096" "00" "796" "0" "796" "0" "n.796T>C" "" "" "" "" "" "" "" "" "-" "0000020552" "00000097" "00" "768" "0" "768" "0" "n.768T>C" "" "" "" "" "" "" "" "" "-" "0000020552" "00000098" "00" "793" "0" "793" "0" "n.793T>C" "" "" "" "" "" "" "" "" "-" "0000020552" "00000099" "00" "676" "0" "676" "0" "c.*325T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020552" "00000100" "00" "601" "0" "601" "0" "c.*325T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020552" "00000101" "00" "1144" "2865" "1144" "2865" "n.*2865T>C" "" "" "" "" "" "" "" "" "-" "0000020552" "00000102" "00" "1225" "2865" "1225" "2865" "n.*2865T>C" "" "" "" "" "" "" "" "" "-" "0000020553" "00000096" "00" "683" "0" "683" "0" "n.683C>T" "" "" "" "" "" "" "" "" "-" "0000020553" "00000097" "00" "655" "0" "655" "0" "n.655C>T" "" "" "" "" "" "" "" "" "-" "0000020553" "00000098" "00" "680" "0" "680" "0" "n.680C>T" "" "" "" "" "" "" "" "" "-" "0000020553" "00000099" "00" "563" "0" "563" "0" "c.*212C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020553" "00000100" "00" "488" "0" "488" "0" "c.*212C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020553" "00000101" "00" "1144" "2752" "1144" "2752" "n.*2752C>T" "" "" "" "" "" "" "" "" "-" "0000020553" "00000102" "00" "1225" "2752" "1225" "2752" "n.*2752C>T" "" "" "" "" "" "" "" "" "-" "0000020554" "00000096" "00" "665" "0" "668" "0" "n.665_668del" "" "" "" "" "" "" "" "" "-" "0000020554" "00000097" "00" "637" "0" "640" "0" "n.637_640del" "" "" "" "" "" "" "" "" "-" "0000020554" "00000098" "00" "662" "0" "665" "0" "n.662_665del" "" "" "" "" "" "" "" "" "-" "0000020554" "00000099" "00" "545" "0" "548" "0" "c.*194_*197del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020554" "00000100" "00" "470" "0" "473" "0" "c.*194_*197del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020554" "00000101" "00" "1144" "2734" "1144" "2737" "n.*2734_*2737del" "" "" "" "" "" "" "" "" "-" "0000020554" "00000102" "00" "1225" "2734" "1225" "2737" "n.*2734_*2737del" "" "" "" "" "" "" "" "" "-" "0000020555" "00000096" "00" "659" "0" "659" "0" "n.659G>A" "" "" "" "" "" "" "" "" "-" "0000020555" "00000097" "00" "631" "0" "631" "0" "n.631G>A" "" "" "" "" "" "" "" "" "-" "0000020555" "00000098" "00" "656" "0" "656" "0" "n.656G>A" "" "" "" "" "" "" "" "" "-" "0000020555" "00000099" "00" "539" "0" "539" "0" "c.*188G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020555" "00000100" "00" "464" "0" "464" "0" "c.*188G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020555" "00000101" "00" "1144" "2728" "1144" "2728" "n.*2728G>A" "" "" "" "" "" "" "" "" "-" "0000020555" "00000102" "00" "1225" "2728" "1225" "2728" "n.*2728G>A" "" "" "" "" "" "" "" "" "-" "0000020556" "00000096" "00" "420" "0" "420" "0" "n.420del" "" "" "" "" "" "" "" "" "-" "0000020556" "00000097" "00" "392" "0" "392" "0" "n.392del" "" "" "" "" "" "" "" "" "-" "0000020556" "00000098" "00" "417" "0" "417" "0" "n.417del" "" "" "" "" "" "" "" "" "-" "0000020556" "00000099" "00" "300" "0" "300" "0" "c.300del" "" "p.(Ala101Profs*10)" "r.(?)" "" "" "" "" "" "-" "0000020556" "00000100" "00" "225" "0" "225" "0" "c.225del" "" "p.(Ala76Profs*10)" "r.(?)" "" "" "" "" "" "-" "0000020556" "00000101" "00" "1144" "2489" "1144" "2489" "n.*2489del" "" "" "" "" "" "" "" "" "-" "0000020556" "00000102" "00" "1225" "2489" "1225" "2489" "n.*2489del" "" "" "" "" "" "" "" "" "-" "0000020557" "00000096" "00" "405" "0" "405" "0" "n.405A>C" "" "" "" "" "" "" "" "" "-" "0000020557" "00000097" "00" "377" "0" "377" "0" "n.377A>C" "" "" "" "" "" "" "" "" "-" "0000020557" "00000098" "00" "402" "0" "402" "0" "n.402A>C" "" "" "" "" "" "" "" "" "-" "0000020557" "00000099" "00" "285" "0" "285" "0" "c.285A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020557" "00000100" "00" "210" "0" "210" "0" "c.210A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020557" "00000101" "00" "1144" "2474" "1144" "2474" "n.*2474A>C" "" "" "" "" "" "" "" "" "-" "0000020557" "00000102" "00" "1225" "2474" "1225" "2474" "n.*2474A>C" "" "" "" "" "" "" "" "" "-" "0000020558" "00000096" "00" "401" "-12" "401" "-12" "n.401-12T>C" "" "" "" "" "" "" "" "" "-" "0000020558" "00000097" "00" "373" "-12" "373" "-12" "n.373-12T>C" "" "" "" "" "" "" "" "" "-" "0000020558" "00000098" "00" "398" "-12" "398" "-12" "n.398-12T>C" "" "" "" "" "" "" "" "" "-" "0000020558" "00000099" "00" "281" "-12" "281" "-12" "c.281-12T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020558" "00000100" "00" "206" "-12" "206" "-12" "c.206-12T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020558" "00000101" "00" "1144" "2458" "1144" "2458" "n.*2458T>C" "" "" "" "" "" "" "" "" "-" "0000020558" "00000102" "00" "1225" "2458" "1225" "2458" "n.*2458T>C" "" "" "" "" "" "" "" "" "-" "0000020559" "00000096" "00" "250" "-1" "250" "-1" "n.250-1G>C" "" "" "" "" "" "" "" "" "-" "0000020559" "00000097" "00" "301" "1000" "301" "1000" "n.301+1000G>C" "" "" "" "" "" "" "" "" "-" "0000020559" "00000098" "00" "302" "-1" "302" "-1" "n.302-1G>C" "" "" "" "" "" "" "" "" "-" "0000020559" "00000099" "00" "130" "-1" "130" "-1" "c.130-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020559" "00000100" "00" "55" "-1" "55" "-1" "c.55-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020559" "00000101" "00" "1144" "157" "1144" "157" "n.*157G>C" "" "" "" "" "" "" "" "" "-" "0000020559" "00000102" "00" "1225" "157" "1225" "157" "n.*157G>C" "" "" "" "" "" "" "" "" "-" "0000020560" "00000096" "00" "249" "15" "249" "15" "n.249+15A>C" "" "" "" "" "" "" "" "" "-" "0000020560" "00000097" "00" "301" "15" "301" "15" "n.301+15A>C" "" "" "" "" "" "" "" "" "-" "0000020560" "00000098" "00" "301" "15" "301" "15" "n.301+15A>C" "" "" "" "" "" "" "" "" "-" "0000020560" "00000099" "00" "129" "15" "129" "15" "c.129+15A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020560" "00000100" "00" "54" "15" "54" "15" "c.54+15A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020560" "00000101" "00" "316" "0" "316" "0" "n.316A>C" "" "" "" "" "" "" "" "" "-" "0000020560" "00000102" "00" "397" "0" "397" "0" "n.397A>C" "" "" "" "" "" "" "" "" "-" "0000020561" "00000096" "00" "238" "0" "238" "0" "n.238C>T" "" "" "" "" "" "" "" "" "-" "0000020561" "00000097" "00" "290" "0" "290" "0" "n.290C>T" "" "" "" "" "" "" "" "" "-" "0000020561" "00000098" "00" "290" "0" "290" "0" "n.290C>T" "" "" "" "" "" "" "" "" "-" "0000020561" "00000099" "00" "118" "0" "118" "0" "c.118C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020561" "00000100" "00" "43" "0" "43" "0" "c.43C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020561" "00000101" "00" "290" "0" "290" "0" "n.290C>T" "" "" "" "" "" "" "" "" "-" "0000020561" "00000102" "00" "371" "0" "371" "0" "n.371C>T" "" "" "" "" "" "" "" "" "-" "0000020562" "00000096" "00" "189" "0" "189" "0" "n.189G>A" "" "" "" "" "" "" "" "" "-" "0000020562" "00000097" "00" "241" "0" "241" "0" "n.241G>A" "" "" "" "" "" "" "" "" "-" "0000020562" "00000098" "00" "241" "0" "241" "0" "n.241G>A" "" "" "" "" "" "" "" "" "-" "0000020562" "00000099" "00" "69" "0" "69" "0" "c.69G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020562" "00000100" "00" "-7" "0" "-7" "0" "c.-7G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020562" "00000101" "00" "241" "0" "241" "0" "n.241G>A" "" "" "" "" "" "" "" "" "-" "0000020562" "00000102" "00" "322" "0" "322" "0" "n.322G>A" "" "" "" "" "" "" "" "" "-" "0000020563" "00000096" "00" "179" "0" "179" "0" "n.179G>A" "" "" "" "" "" "" "" "" "-" "0000020563" "00000097" "00" "231" "0" "231" "0" "n.231G>A" "" "" "" "" "" "" "" "" "-" "0000020563" "00000098" "00" "231" "0" "231" "0" "n.231G>A" "" "" "" "" "" "" "" "" "-" "0000020563" "00000099" "00" "59" "0" "59" "0" "c.59G>A" "" "p.(Arg20His)" "r.(?)" "" "" "" "" "" "-" "0000020563" "00000100" "00" "-17" "0" "-17" "0" "c.-17G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020563" "00000101" "00" "231" "0" "231" "0" "n.231G>A" "" "" "" "" "" "" "" "" "-" "0000020563" "00000102" "00" "312" "0" "312" "0" "n.312G>A" "" "" "" "" "" "" "" "" "-" "0000020564" "00000096" "00" "173" "0" "173" "0" "n.173A>G" "" "" "" "" "" "" "" "" "-" "0000020564" "00000097" "00" "173" "0" "173" "0" "n.173A>G" "" "" "" "" "" "" "" "" "-" "0000020564" "00000098" "00" "173" "0" "173" "0" "n.173A>G" "" "" "" "" "" "" "" "" "-" "0000020564" "00000099" "00" "1" "0" "1" "0" "c.1A>G" "" "p.?" "r.?" "" "" "" "" "" "-" "0000020564" "00000100" "00" "-259" "-84" "-259" "-84" "c.-343A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020564" "00000101" "00" "173" "0" "173" "0" "n.173A>G" "" "" "" "" "" "" "" "" "-" "0000020564" "00000102" "00" "173" "0" "173" "0" "n.173A>G" "" "" "" "" "" "" "" "" "-" "0000020565" "00000096" "00" "144" "0" "144" "0" "n.144G>T" "" "" "" "" "" "" "" "" "-" "0000020565" "00000097" "00" "144" "0" "144" "0" "n.144G>T" "" "" "" "" "" "" "" "" "-" "0000020565" "00000098" "00" "144" "0" "144" "0" "n.144G>T" "" "" "" "" "" "" "" "" "-" "0000020565" "00000099" "00" "-29" "0" "-29" "0" "c.-29G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020565" "00000100" "00" "-259" "-113" "-259" "-113" "c.-372G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020565" "00000101" "00" "144" "0" "144" "0" "n.144G>T" "" "" "" "" "" "" "" "" "-" "0000020565" "00000102" "00" "144" "0" "144" "0" "n.144G>T" "" "" "" "" "" "" "" "" "-" "0000020566" "00000096" "00" "52" "0" "52" "0" "n.52C>T" "" "" "" "" "" "" "" "" "-" "0000020566" "00000097" "00" "52" "0" "52" "0" "n.52C>T" "" "" "" "" "" "" "" "" "-" "0000020566" "00000098" "00" "52" "0" "52" "0" "n.52C>T" "" "" "" "" "" "" "" "" "-" "0000020566" "00000099" "00" "-121" "0" "-121" "0" "c.-121C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020566" "00000100" "00" "-259" "-205" "-259" "-205" "c.-464C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020566" "00000101" "00" "52" "0" "52" "0" "n.52C>T" "" "" "" "" "" "" "" "" "-" "0000020566" "00000102" "00" "52" "0" "52" "0" "n.52C>T" "" "" "" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0