### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFS2) # 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}}" "NDUFS2" "NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)" "1" "q23.3" "unknown" "NC_000001.10" "UD_138306692429" "" "" "" "1" "1" "7708" "4720" "602985" "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 ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:50:45" "" "" "" "" "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 = 4 "{{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}}" "00000207" "NDUFS2" "transcript variant X1" "001" "XM_005245208.1" "" "XP_005245265.1" "" "" "" "-308" "1594" "1392" "161167209" "161184185" "00001" "2013-11-07 13:56:38" "" "" "" "1" "00000208" "NDUFS2" "transcript variant 1" "002" "NM_004550.4" "" "NP_004541.1" "" "" "" "-448" "1594" "1392" "161169105" "161184185" "00001" "2013-11-07 13:56:38" "" "" "" "1" "00000209" "NDUFS2" "transcript variant 2" "003" "NM_001166159.1" "" "NP_001159631.1" "" "" "" "-239" "1828" "1374" "161171937" "161184185" "00001" "2013-11-07 13:56:38" "" "" "" "1" "00000210" "NDUFS2" "transcript variant X2" "004" "XM_005245209.1" "" "XP_005245266.1" "" "" "" "-213" "1300" "1098" "161172150" "161184185" "00001" "2013-11-07 13:56:38" "" "" "" "1" ## 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}}" "00011" "252010" "Mitochondrial complex I deficiency, 252010 (3)" "252010" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" "00584" "618228" "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6; MC1DN6" "618228" "" "" "" "00000" "2019-03-01 12:40:01" "" "" "Added by batch from OMIM 2019-01-20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NDUFS2" "00011" "NDUFS2" "00584" ## 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 = 48 "{{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}}" "0000000081" "0" "99" "1" "161179702" "161179702" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-11 21:59:56" "NDUFS2_000001" "g.161179702G>A" "" "{PMID:11220739:11220739}" "" "rs121434427" "subst" "0" "; clinVar; Ensembl;" "5.290" "" "" "" "" "MSCV_0000081" "" "0000000082" "0" "99" "1" "161179705" "161179705" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-11 22:13:51" "NDUFS2_000002" "g.161179705C>A" "" "{PMID:11220739:11220739}" "" "rs121434428" "subst" "0" "; clinVar; Ensembl;" "5.290" "" "" "" "" "MSCV_0000082" "" "0000000083" "0" "99" "1" "161183463" "161183463" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-11 22:06:26" "NDUFS2_000003" "g.161183463T>C" "" "{PMID:11220739:11220739}" "" "rs121434429" "subst" "0" "; clinVar; Ensembl;" "5.530" "" "" "" "" "MSCV_0000083" "" "0000015564" "0" "33" "1" "161169165" "161169165" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:33:32" "NDUFS2_000041" "g.161169165G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015564" "" "0000015565" "0" "33" "1" "161169165" "161169165" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:34:22" "NDUFS2_000042" "g.161169165G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015565" "" "0000015566" "0" "55" "1" "161169207" "161169207" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:20:11" "NDUFS2_000032" "g.161169207G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015566" "" "0000015567" "0" "55" "1" "161169255" "161169255" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:25:58" "NDUFS2_000033" "g.161169255C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015567" "" "0000015568" "0" "55" "1" "161171958" "161171958" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:21:11" "NDUFS2_000034" "g.161171958G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015568" "" "0000015569" "0" "55" "1" "161172017" "161172017" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:06:51" "NDUFS2_000035" "g.161172017C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015569" "" "0000015570" "0" "55" "1" "161172020" "161172020" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:01:25" "NDUFS2_000036" "g.161172020G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015570" "" "0000015571" "0" "55" "1" "161172148" "161172148" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:30:45" "NDUFS2_000037" "g.161172148C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015571" "" "0000015572" "0" "77" "1" "161172156" "161172156" "subst" "35" "0.0020766" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:27:21" "NDUFS2_000038" "g.161172156C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015572" "" "0000015573" "0" "33" "1" "161172233" "161172233" "subst" "35" "0.0740655" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:03:46" "NDUFS2_000039" "g.161172233C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015573" "" "0000015574" "0" "55" "1" "161172284" "161172284" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:04:38" "NDUFS2_000040" "g.161172284C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015574" "" "0000015575" "0" "55" "1" "161173229" "161173229" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-02 23:38:09" "NDUFS2_000024" "g.161173229G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015575" "" "0000015576" "0" "55" "1" "161173293" "161173293" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:00:48" "NDUFS2_000025" "g.161173293A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015576" "" "0000015577" "0" "99" "1" "161176262" "161176262" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:18:14" "NDUFS2_000026" "g.161176262G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015577" "" "0000015578" "0" "55" "1" "161176331" "161176331" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:20:48" "NDUFS2_000027" "g.161176331A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015578" "" "0000015579" "0" "55" "1" "161179030" "161179030" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:35:30" "NDUFS2_000028" "g.161179030C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015579" "" "0000015580" "0" "77" "1" "161179114" "161179114" "subst" "35" "0.00507458" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:17:44" "NDUFS2_000029" "g.161179114C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015580" "" "0000015581" "0" "55" "1" "161179270" "161179270" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:07:54" "NDUFS2_000030" "g.161179270C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015581" "" "0000015582" "0" "77" "1" "161179635" "161179635" "subst" "35" "0.000384438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:44:49" "NDUFS2_000031" "g.161179635C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015582" "" "0000015583" "0" "99" "1" "161179702" "161179702" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:25:23" "NDUFS2_000001" "g.161179702G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000081" "" "0000015584" "0" "99" "1" "161179705" "161179705" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:15:36" "NDUFS2_000002" "g.161179705C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000082" "" "0000015585" "0" "00" "1" "161179733" "161179734" "ins" "35" "0.000479233" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:12:37" "NDUFS2_000008" "g.161179733_161179734insCCGG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015585" "" "0000015586" "0" "55" "1" "161180381" "161180381" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:29:49" "NDUFS2_000009" "g.161180381T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015586" "" "0000015587" "0" "55" "1" "161180417" "161180417" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:06:06" "NDUFS2_000010" "g.161180417C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015587" "" "0000015588" "0" "55" "1" "161180473" "161180473" "subst" "35" "0.0012302" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:24:49" "NDUFS2_000011" "g.161180473T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015588" "" "0000015589" "0" "77" "1" "161180512" "161180512" "subst" "35" "0.0201445" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:28:11" "NDUFS2_000012" "g.161180512A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015589" "" "0000015590" "0" "33" "1" "161182208" "161182208" "subst" "35" "0.0686606" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:40:50" "NDUFS2_000013" "g.161182208C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015590" "" "0000015591" "0" "55" "1" "161183272" "161183272" "subst" "35" "0.00668922" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:02:27" "NDUFS2_000014" "g.161183272A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015591" "" "0000015592" "0" "00" "1" "161183429" "161183429" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:41:25" "NDUFS2_000015" "g.161183429del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015592" "" "0000015593" "0" "55" "1" "161183441" "161183441" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:21:47" "NDUFS2_000016" "g.161183441A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015593" "" "0000015594" "0" "99" "1" "161183463" "161183463" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:42:20" "NDUFS2_000003" "g.161183463T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000083" "" "0000015595" "0" "33" "1" "161183516" "161183516" "subst" "51" "0.105951" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-02 23:38:09" "NDUFS2_000017" "g.161183516C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015595" "" "0000015596" "0" "77" "1" "161183716" "161183716" "subst" "35" "0.000384438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:36:27" "NDUFS2_000018" "g.161183716G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015596" "" "0000015597" "0" "55" "1" "161183721" "161183721" "subst" "35" "0.00030755" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:14:29" "NDUFS2_000019" "g.161183721C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015597" "" "0000015598" "0" "00" "1" "161184054" "161184059" "delins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:28:52" "NDUFS2_000020" "g.161184054_161184059delinsTGCGTCTGTGTGTG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015598" "" "0000015599" "0" "00" "1" "161184059" "161184060" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:02:51" "NDUFS2_000021" "g.161184059_161184060insTG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015599" "" "0000015600" "0" "00" "1" "161184059" "161184060" "ins" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-22 16:58:04" "NDUFS2_000022" "g.161184059_161184060insTGTGTG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015600" "" "0000015601" "0" "00" "1" "161184060" "161184061" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:07:42" "NDUFS2_000023" "g.161184060_161184061del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015601" "" "0000015602" "0" "00" "1" "161184089" "161184090" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:44:28" "NDUFS2_000004" "g.161184089_161184090insTA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015602" "" "0000015603" "0" "55" "1" "161184091" "161184091" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:39:04" "NDUFS2_000005" "g.161184091A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015603" "" "0000015604" "0" "33" "1" "161184097" "161184097" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:27:07" "NDUFS2_000006" "g.161184097A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015604" "" "0000015605" "0" "55" "1" "161184170" "161184170" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:23:35" "NDUFS2_000007" "g.161184170G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015605" "" "0000023782" "0" "00" "1" "161179083" "161179084" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 20:18:46" "NDUFS2_000043" "g.161179083_161179084del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023783" "0" "00" "1" "161180389" "161180389" "subst" "35" "0.000230663" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 20:19:03" "NDUFS2_000044" "g.161180389T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023784" "0" "00" "1" "161183265" "161183265" "subst" "35" "0.000384438" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 20:19:19" "NDUFS2_000045" "g.161183265G>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 = 192 "{{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}}" "0000000081" "00000207" "99" "683" "0" "683" "0" "c.683G>A" "6/13" "p.(Arg228Gln)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000081" "00000208" "99" "683" "0" "683" "0" "c.683G>A" "6/13" "p.?" "r.?" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000081" "00000209" "99" "683" "0" "683" "0" "c.683G>A" "6/13" "p.(Arg228Gln)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000081" "00000210" "99" "389" "0" "389" "0" "c.389G>A" "5/13" "p.(Arg130Gln)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000082" "00000207" "99" "686" "0" "686" "0" "c.686C>A" "6/13" "p.(Pro229Gln)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000082" "00000208" "99" "686" "0" "686" "0" "c.686C>A" "6/13" "p.?" "r.?" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000082" "00000209" "99" "686" "0" "686" "0" "c.686C>A" "6/13" "p.(Pro229Gln)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000082" "00000210" "99" "392" "0" "392" "0" "c.392C>A" "5/13" "p.(Pro131Gln)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000083" "00000207" "99" "1237" "0" "1237" "0" "c.1237T>C" "12/13" "p.(Ser413Pro)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000000083" "00000208" "99" "1237" "0" "1237" "0" "c.1237T>C" "12/13" "p.?" "r.?" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000000083" "00000209" "99" "1237" "0" "1237" "0" "c.1237T>C" "12/13" "p.(Ser413Pro)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000000083" "00000210" "99" "943" "0" "943" "0" "c.943T>C" "11/13" "p.(Ser315Pro)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000015564" "00000207" "00" "-240" "1888" "-240" "1888" "c.-240+1888G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015564" "00000208" "00" "-388" "0" "-388" "0" "c.-388G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015564" "00000209" "00" "-239" "-2772" "-239" "-2772" "c.-3011G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015564" "00000210" "00" "-213" "-2985" "-213" "-2985" "c.-3198G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015565" "00000207" "00" "-240" "1888" "-240" "1888" "c.-240+1888G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015565" "00000208" "00" "-388" "0" "-388" "0" "c.-388G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015565" "00000209" "00" "-239" "-2772" "-239" "-2772" "c.-3011G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015565" "00000210" "00" "-213" "-2985" "-213" "-2985" "c.-3198G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015566" "00000207" "00" "-240" "1930" "-240" "1930" "c.-240+1930G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015566" "00000208" "00" "-346" "0" "-346" "0" "c.-346G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015566" "00000209" "00" "-239" "-2730" "-239" "-2730" "c.-2969G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015566" "00000210" "00" "-213" "-2943" "-213" "-2943" "c.-3156G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015567" "00000207" "00" "-240" "1978" "-240" "1978" "c.-240+1978C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015567" "00000208" "00" "-298" "0" "-298" "0" "c.-298C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015567" "00000209" "00" "-239" "-2682" "-239" "-2682" "c.-2921C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015567" "00000210" "00" "-213" "-2895" "-213" "-2895" "c.-3108C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015568" "00000207" "00" "-218" "0" "-218" "0" "c.-218G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015568" "00000208" "00" "-218" "0" "-218" "0" "c.-218G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015568" "00000209" "00" "-218" "0" "-218" "0" "c.-218G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015568" "00000210" "00" "-213" "-192" "-213" "-192" "c.-405G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015569" "00000207" "00" "-159" "0" "-159" "0" "c.-159C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015569" "00000208" "00" "-159" "0" "-159" "0" "c.-159C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015569" "00000209" "00" "-159" "0" "-159" "0" "c.-159C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015569" "00000210" "00" "-213" "-133" "-213" "-133" "c.-346C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015570" "00000207" "00" "-156" "0" "-156" "0" "c.-156G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015570" "00000208" "00" "-156" "0" "-156" "0" "c.-156G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015570" "00000209" "00" "-156" "0" "-156" "0" "c.-156G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015570" "00000210" "00" "-213" "-130" "-213" "-130" "c.-343G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015571" "00000207" "00" "-28" "0" "-28" "0" "c.-28C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015571" "00000208" "00" "-28" "0" "-28" "0" "c.-28C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015571" "00000209" "00" "-28" "0" "-28" "0" "c.-28C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015571" "00000210" "00" "-213" "-2" "-213" "-2" "c.-215C>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000015572" "00000207" "00" "-20" "0" "-20" "0" "c.-20C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015572" "00000208" "00" "-20" "0" "-20" "0" "c.-20C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015572" "00000209" "00" "-20" "0" "-20" "0" "c.-20C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015572" "00000210" "00" "-207" "0" "-207" "0" "c.-207C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015573" "00000207" "00" "58" "0" "58" "0" "c.58C>A" "" "p.(Pro20Thr)" "r.(?)" "" "" "" "" "" "-" "0000015573" "00000208" "00" "58" "0" "58" "0" "c.58C>A" "" "p.(Pro20Thr)" "r.(?)" "" "" "" "" "" "-" "0000015573" "00000209" "00" "58" "0" "58" "0" "c.58C>A" "" "p.(Pro20Thr)" "r.(?)" "" "" "" "" "" "-" "0000015573" "00000210" "00" "-130" "0" "-130" "0" "c.-130C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015574" "00000207" "00" "95" "14" "95" "14" "c.95+14C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015574" "00000208" "00" "95" "14" "95" "14" "c.95+14C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015574" "00000209" "00" "95" "14" "95" "14" "c.95+14C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015574" "00000210" "00" "-93" "14" "-93" "14" "c.-93+14C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015575" "00000207" "00" "98" "0" "98" "0" "c.98G>A" "" "p.(Gly33Asp)" "r.(?)" "" "" "" "" "" "-" "0000015575" "00000208" "00" "98" "0" "98" "0" "c.98G>A" "" "p.(Gly33Asp)" "r.(?)" "" "" "" "" "" "-" "0000015575" "00000209" "00" "98" "0" "98" "0" "c.98G>A" "" "p.(Gly33Asp)" "r.(?)" "" "" "" "" "" "-" "0000015575" "00000210" "00" "-93" "959" "-93" "959" "c.-93+959G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015576" "00000207" "00" "162" "0" "162" "0" "c.162A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015576" "00000208" "00" "162" "0" "162" "0" "c.162A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015576" "00000209" "00" "162" "0" "162" "0" "c.162A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015576" "00000210" "00" "-93" "1023" "-93" "1023" "c.-93+1023A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015577" "00000207" "00" "268" "0" "268" "0" "c.268G>A" "" "p.(Ala90Thr)" "r.(?)" "" "" "" "" "" "-" "0000015577" "00000208" "00" "268" "0" "268" "0" "c.268G>A" "" "p.(Ala90Thr)" "r.(?)" "" "" "" "" "" "-" "0000015577" "00000209" "00" "268" "0" "268" "0" "c.268G>A" "" "p.(Ala90Thr)" "r.(?)" "" "" "" "" "" "-" "0000015577" "00000210" "00" "-27" "0" "-27" "0" "c.-27G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015578" "00000207" "00" "337" "0" "337" "0" "c.337A>G" "" "p.(Ile113Val)" "r.(?)" "" "" "" "" "" "-" "0000015578" "00000208" "00" "337" "0" "337" "0" "c.337A>G" "" "p.(Ile113Val)" "r.(?)" "" "" "" "" "" "-" "0000015578" "00000209" "00" "337" "0" "337" "0" "c.337A>G" "" "p.(Ile113Val)" "r.(?)" "" "" "" "" "" "-" "0000015578" "00000210" "00" "43" "0" "43" "0" "c.43A>G" "" "p.(Ile15Val)" "r.(?)" "" "" "" "" "" "-" "0000015579" "00000207" "00" "441" "0" "441" "0" "c.441C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015579" "00000208" "00" "441" "0" "441" "0" "c.441C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015579" "00000209" "00" "441" "0" "441" "0" "c.441C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015579" "00000210" "00" "147" "0" "147" "0" "c.147C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015580" "00000207" "00" "514" "11" "514" "11" "c.514+11C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015580" "00000208" "00" "514" "11" "514" "11" "c.514+11C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015580" "00000209" "00" "514" "11" "514" "11" "c.514+11C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015580" "00000210" "00" "220" "11" "220" "11" "c.220+11C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015581" "00000207" "00" "515" "-3" "515" "-3" "c.515-3C>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000015581" "00000208" "00" "515" "-3" "515" "-3" "c.515-3C>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000015581" "00000209" "00" "515" "-3" "515" "-3" "c.515-3C>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000015581" "00000210" "00" "221" "-3" "221" "-3" "c.221-3C>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000015582" "00000207" "00" "628" "-12" "628" "-12" "c.628-12C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015582" "00000208" "00" "628" "-12" "628" "-12" "c.628-12C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015582" "00000209" "00" "628" "-12" "628" "-12" "c.628-12C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015582" "00000210" "00" "334" "-12" "334" "-12" "c.334-12C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015583" "00000207" "00" "683" "0" "683" "0" "c.683G>A" "" "p.(Arg228Gln)" "r.(?)" "" "" "" "" "" "-" "0000015583" "00000208" "00" "683" "0" "683" "0" "c.683G>A" "" "p.(Arg228Gln)" "r.(?)" "" "" "" "" "" "-" "0000015583" "00000209" "00" "683" "0" "683" "0" "c.683G>A" "" "p.(Arg228Gln)" "r.(?)" "" "" "" "" "" "-" "0000015583" "00000210" "00" "389" "0" "389" "0" "c.389G>A" "" "p.(Arg130Gln)" "r.(?)" "" "" "" "" "" "-" "0000015584" "00000207" "00" "686" "0" "686" "0" "c.686C>A" "" "p.(Pro229Gln)" "r.(?)" "" "" "" "" "" "-" "0000015584" "00000208" "00" "686" "0" "686" "0" "c.686C>A" "" "p.(Pro229Gln)" "r.(?)" "" "" "" "" "" "-" "0000015584" "00000209" "00" "686" "0" "686" "0" "c.686C>A" "" "p.(Pro229Gln)" "r.(?)" "" "" "" "" "" "-" "0000015584" "00000210" "00" "392" "0" "392" "0" "c.392C>A" "" "p.(Pro131Gln)" "r.(?)" "" "" "" "" "" "-" "0000015585" "00000207" "00" "702" "12" "702" "13" "c.702+12_702+13insCCGG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015585" "00000208" "00" "702" "12" "702" "13" "c.702+12_702+13insCCGG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015585" "00000209" "00" "702" "12" "702" "13" "c.702+12_702+13insCCGG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015585" "00000210" "00" "408" "12" "408" "13" "c.408+12_408+13insCCGG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015586" "00000207" "00" "867" "0" "867" "0" "c.867T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015586" "00000208" "00" "867" "0" "867" "0" "c.867T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015586" "00000209" "00" "867" "0" "867" "0" "c.867T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015586" "00000210" "00" "573" "0" "573" "0" "c.573T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015587" "00000207" "00" "903" "0" "903" "0" "c.903C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015587" "00000208" "00" "903" "0" "903" "0" "c.903C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015587" "00000209" "00" "903" "0" "903" "0" "c.903C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015587" "00000210" "00" "609" "0" "609" "0" "c.609C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015588" "00000207" "00" "959" "0" "959" "0" "c.959T>C" "" "p.(Val320Ala)" "r.(?)" "" "" "" "" "" "-" "0000015588" "00000208" "00" "959" "0" "959" "0" "c.959T>C" "" "p.(Val320Ala)" "r.(?)" "" "" "" "" "" "-" "0000015588" "00000209" "00" "959" "0" "959" "0" "c.959T>C" "" "p.(Val320Ala)" "r.(?)" "" "" "" "" "" "-" "0000015588" "00000210" "00" "665" "0" "665" "0" "c.665T>C" "" "p.(Val222Ala)" "r.(?)" "" "" "" "" "" "-" "0000015589" "00000207" "00" "986" "12" "986" "12" "c.986+12A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015589" "00000208" "00" "986" "12" "986" "12" "c.986+12A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015589" "00000209" "00" "986" "12" "986" "12" "c.986+12A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015589" "00000210" "00" "692" "12" "692" "12" "c.692+12A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015590" "00000207" "00" "1054" "0" "1054" "0" "c.1054C>G" "" "p.(Pro352Ala)" "r.(?)" "" "" "" "" "" "-" "0000015590" "00000208" "00" "1054" "0" "1054" "0" "c.1054C>G" "" "p.(Pro352Ala)" "r.(?)" "" "" "" "" "" "-" "0000015590" "00000209" "00" "1054" "0" "1054" "0" "c.1054C>G" "" "p.(Pro352Ala)" "r.(?)" "" "" "" "" "" "-" "0000015590" "00000210" "00" "760" "0" "760" "0" "c.760C>G" "" "p.(Pro254Ala)" "r.(?)" "" "" "" "" "" "-" "0000015591" "00000207" "00" "1212" "7" "1212" "7" "c.1212+7A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015591" "00000208" "00" "1212" "7" "1212" "7" "c.1212+7A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015591" "00000209" "00" "1212" "7" "1212" "7" "c.1212+7A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015591" "00000210" "00" "918" "7" "918" "7" "c.918+7A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015592" "00000207" "00" "1213" "-10" "1213" "-10" "c.1213-10del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015592" "00000208" "00" "1213" "-10" "1213" "-10" "c.1213-10del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015592" "00000209" "00" "1213" "-10" "1213" "-10" "c.1213-10del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015592" "00000210" "00" "919" "-10" "919" "-10" "c.919-10del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015593" "00000207" "00" "1215" "0" "1215" "0" "c.1215A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015593" "00000208" "00" "1215" "0" "1215" "0" "c.1215A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015593" "00000209" "00" "1215" "0" "1215" "0" "c.1215A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015593" "00000210" "00" "921" "0" "921" "0" "c.921A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015594" "00000207" "00" "1237" "0" "1237" "0" "c.1237T>C" "" "p.(Ser413Pro)" "r.(?)" "" "" "" "" "" "-" "0000015594" "00000208" "00" "1237" "0" "1237" "0" "c.1237T>C" "" "p.(Ser413Pro)" "r.(?)" "" "" "" "" "" "-" "0000015594" "00000209" "00" "1237" "0" "1237" "0" "c.1237T>C" "" "p.(Ser413Pro)" "r.(?)" "" "" "" "" "" "-" "0000015594" "00000210" "00" "943" "0" "943" "0" "c.943T>C" "" "p.(Ser315Pro)" "r.(?)" "" "" "" "" "" "-" "0000015595" "00000207" "00" "1290" "0" "1290" "0" "c.1290C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015595" "00000208" "00" "1290" "0" "1290" "0" "c.1290C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015595" "00000209" "00" "1290" "0" "1290" "0" "c.1290C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015595" "00000210" "00" "996" "0" "996" "0" "c.996C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015596" "00000207" "00" "1354" "5" "1354" "5" "c.1354+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000015596" "00000208" "00" "1354" "5" "1354" "5" "c.1354+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000015596" "00000209" "00" "1359" "0" "1359" "0" "c.1359G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015596" "00000210" "00" "1060" "5" "1060" "5" "c.1060+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000015597" "00000207" "00" "1354" "10" "1354" "10" "c.1354+10C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015597" "00000208" "00" "1354" "10" "1354" "10" "c.1354+10C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015597" "00000209" "00" "1364" "0" "1364" "0" "c.1364C>A" "" "p.(Pro455His)" "r.(?)" "" "" "" "" "" "-" "0000015597" "00000210" "00" "1060" "10" "1060" "10" "c.1060+10C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015598" "00000207" "00" "1463" "0" "1468" "0" "c.*71_*76delinsTGCGTCTGTGTGTG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015598" "00000208" "00" "1463" "0" "1468" "0" "c.*71_*76delinsTGCGTCTGTGTGTG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015598" "00000209" "00" "1697" "0" "1702" "0" "c.*323_*328delinsTGCGTCTGTGTGTG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015598" "00000210" "00" "1169" "0" "1174" "0" "c.*71_*76delinsTGCGTCTGTGTGTG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015599" "00000207" "00" "1468" "0" "1469" "0" "c.*76_*77insTG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015599" "00000208" "00" "1468" "0" "1469" "0" "c.*76_*77insTG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015599" "00000209" "00" "1702" "0" "1703" "0" "c.*328_*329insTG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015599" "00000210" "00" "1174" "0" "1175" "0" "c.*76_*77insTG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015600" "00000207" "00" "1468" "0" "1469" "0" "c.*76_*77insTGTGTG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015600" "00000208" "00" "1468" "0" "1469" "0" "c.*76_*77insTGTGTG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015600" "00000209" "00" "1702" "0" "1703" "0" "c.*328_*329insTGTGTG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015600" "00000210" "00" "1174" "0" "1175" "0" "c.*76_*77insTGTGTG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015601" "00000207" "00" "1469" "0" "1470" "0" "c.*77_*78del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015601" "00000208" "00" "1469" "0" "1470" "0" "c.*77_*78del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015601" "00000209" "00" "1703" "0" "1704" "0" "c.*329_*330del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015601" "00000210" "00" "1175" "0" "1176" "0" "c.*77_*78del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015602" "00000207" "00" "1498" "0" "1499" "0" "c.*106_*107insTA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015602" "00000208" "00" "1498" "0" "1499" "0" "c.*106_*107insTA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015602" "00000209" "00" "1732" "0" "1733" "0" "c.*358_*359insTA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015602" "00000210" "00" "1204" "0" "1205" "0" "c.*106_*107insTA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015603" "00000207" "00" "1500" "0" "1500" "0" "c.*108A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015603" "00000208" "00" "1500" "0" "1500" "0" "c.*108A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015603" "00000209" "00" "1734" "0" "1734" "0" "c.*360A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015603" "00000210" "00" "1206" "0" "1206" "0" "c.*108A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015604" "00000207" "00" "1506" "0" "1506" "0" "c.*114A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015604" "00000208" "00" "1506" "0" "1506" "0" "c.*114A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015604" "00000209" "00" "1740" "0" "1740" "0" "c.*366A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015604" "00000210" "00" "1212" "0" "1212" "0" "c.*114A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015605" "00000207" "00" "1579" "0" "1579" "0" "c.*187G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015605" "00000208" "00" "1579" "0" "1579" "0" "c.*187G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015605" "00000209" "00" "1813" "0" "1813" "0" "c.*439G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015605" "00000210" "00" "1285" "0" "1285" "0" "c.*187G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023782" "00000207" "00" "494" "0" "495" "0" "c.494_495del" "" "p.(Arg166Glyfs*39)" "r.(?)" "" "" "" "" "" "-" "0000023782" "00000208" "00" "494" "0" "495" "0" "c.494_495del" "" "p.(Arg166Glyfs*39)" "r.(?)" "" "" "" "" "" "-" "0000023782" "00000209" "00" "494" "0" "495" "0" "c.494_495del" "" "p.(Arg166Glyfs*39)" "r.(?)" "" "" "" "" "" "-" "0000023782" "00000210" "00" "200" "0" "201" "0" "c.200_201del" "" "p.(Arg68Glyfs*39)" "r.(?)" "" "" "" "" "" "-" "0000023783" "00000207" "00" "875" "0" "875" "0" "c.875T>C" "" "p.(Met292Thr)" "r.(?)" "" "" "" "" "" "-" "0000023783" "00000208" "00" "875" "0" "875" "0" "c.875T>C" "" "p.(Met292Thr)" "r.(?)" "" "" "" "" "" "-" "0000023783" "00000209" "00" "875" "0" "875" "0" "c.875T>C" "" "p.(Met292Thr)" "r.(?)" "" "" "" "" "" "-" "0000023783" "00000210" "00" "581" "0" "581" "0" "c.581T>C" "" "p.(Met194Thr)" "r.(?)" "" "" "" "" "" "-" "0000023784" "00000207" "00" "1212" "0" "1212" "0" "c.1212G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023784" "00000208" "00" "1212" "0" "1212" "0" "c.1212G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023784" "00000209" "00" "1212" "0" "1212" "0" "c.1212G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023784" "00000210" "00" "918" "0" "918" "0" "c.918G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0