### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFS1) # 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}}" "NDUFS1" "NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)" "2" "q33-q34" "unknown" "NC_000002.11" "UD_132085400071" "" "" "" "1" "1" "7707" "4719" "157655" "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 = 5 "{{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}}" "00000202" "NDUFS1" "transcript variant 3" "001" "NM_001199982.1" "" "NP_001186911.1" "" "" "" "-239" "2957" "1851" "207024243" "206987803" "00001" "2013-11-07 13:56:34" "" "" "" "2" "00000203" "NDUFS1" "transcript variant 4" "002" "NM_001199983.1" "" "NP_001186912.1" "" "" "" "-262" "3119" "2013" "207024243" "206987803" "00001" "2013-11-07 13:56:34" "" "" "" "2" "00000204" "NDUFS1" "transcript variant 2" "003" "NM_001199981.1" "" "NP_001186910.1" "" "" "" "-183" "3182" "2076" "207024243" "206987803" "00001" "2013-11-07 13:56:34" "" "" "" "2" "00000205" "NDUFS1" "transcript variant 1" "004" "NM_005006.6" "" "NP_004997.4" "" "" "" "-183" "3290" "2184" "207024243" "206987803" "00001" "2013-11-07 13:56:34" "" "" "" "2" "00000206" "NDUFS1" "transcript variant 5" "005" "NM_001199984.1" "" "NP_001186913.1" "" "" "" "-61" "3332" "2226" "207023918" "206987803" "00001" "2013-11-07 13:56:34" "" "" "" "2" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00011" "252010" "Mitochondrial complex I deficiency, 252010 (3)" "252010" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" "00583" "618226" "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5; MC1DN5" "618226" "" "" "" "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}}" "NDUFS1" "00011" "NDUFS1" "00583" ## 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 = 64 "{{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}}" "0000000846" "0" "99" "2" "206992550" "206992550" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-03-22 05:42:19" "NDUFS1_000008" "g.206992550C>T" "" "{PMID:20382551:20382551}" "" "rs397515447" "subst" "0" "; clinVar; Ensembl;" "5.630" "" "" "" "" "MSCV_0000846" "" "0000000847" "0" "99" "2" "206992622" "206992622" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:09:19" "NDUFS1_000009" "g.206992622T>C" "" "{PMID:21203893:21203893}" "" "rs387907199" "subst" "0" "; clinVar; ensembl;" "5.630" "" "" "" "" "MSCV_0000847" "" "0000000848" "0" "99" "2" "206994851" "206994851" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-11 22:21:14" "NDUFS1_000001" "g.206994851G>A" "" "{PMID:20382551:20382551}" "" "rs372691318" "subst" "0" "; clinvar;" "4.830" "" "" "" "" "MSCV_0000848" "" "0000000849" "0" "99" "2" "207006705" "207006705" "subst" "35" "0.000153775" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:53:34" "NDUFS1_000002" "g.207006705G>A" "" "{PMID:20382551:20382551}" "" "rs149271416" "subst" "0" "; clinVar; ensembl;" "5.860" "" "" "" "" "MSCV_0000849" "" "0000000850" "0" "99" "2" "207009733" "207009733" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:53:35" "NDUFS1_000003" "g.207009733T>C" "" "{PMID:11349233:11349233}" "" "rs199422224" "subst" "0" "; clinVar; Ensembl;" "5.170" "" "" "" "" "MSCV_0000850" "" "0000000851" "0" "99" "2" "207011643" "207011643" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:53:35" "NDUFS1_000004" "g.207011643G>A" "" "{PMID:11349233:11349233}" "" "rs199422225" "subst" "0" "; clinVar; Ensembl;" "4.680" "" "" "" "" "MSCV_0000851" "" "0000000852" "0" "99" "2" "207011673" "207011673" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:53:36" "NDUFS1_000005" "g.207011673G>C" "" "{PMID:15824269:15824269}" "" "rs199422226" "subst" "0" "; clinVar; Ensembl;" "4.820" "" "" "" "" "MSCV_0000852" "" "0000000853" "0" "00" "2" "207011685" "207011685" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:53:36" "NDUFS1_000006" "g.207011685G>A" "" "" "" "NA" "subst" "0" ";" "5.690" "" "" "" "" "MSCV_0000853" "" "0000000854" "0" "99" "2" "207011696" "207011698" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:53:37" "NDUFS1_000007" "g.207011696_207011698del" "" "{PMID:11349233:11349233}" "" "rs397515383" "del" "0" "; clinVar; Ensembl;" "" "" "" "" "" "MSCV_0000854" "" "0000019336" "0" "55" "2" "206987943" "206987943" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:56:54" "NDUFS1_000048" "g.206987943T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019336" "" "0000019337" "0" "55" "2" "206988043" "206988043" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:56:59" "NDUFS1_000049" "g.206988043T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019337" "" "0000019338" "0" "33" "2" "206988062" "206988063" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:53:40" "NDUFS1_000047" "g.206988062_206988063insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019338" "" "0000019339" "0" "33" "2" "206988063" "206988063" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:52:17" "NDUFS1_000046" "g.206988063del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019339" "" "0000019340" "0" "55" "2" "206988153" "206988153" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:05:41" "NDUFS1_000010" "g.206988153T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019340" "" "0000019341" "0" "33" "2" "206988176" "206988176" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:05:46" "NDUFS1_000011" "g.206988176T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019341" "" "0000019342" "0" "55" "2" "206988268" "206988268" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:05:50" "NDUFS1_000012" "g.206988268T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019342" "" "0000019343" "0" "55" "2" "206988348" "206988348" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:05:55" "NDUFS1_000013" "g.206988348A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019343" "" "0000019344" "0" "55" "2" "206988405" "206988405" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:21:50" "NDUFS1_000014" "g.206988405C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019344" "" "0000019345" "0" "33" "2" "206988452" "206988452" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:06:08" "NDUFS1_000015" "g.206988452A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019345" "" "0000019346" "0" "55" "2" "206988471" "206988471" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:06:12" "NDUFS1_000016" "g.206988471G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019346" "" "0000019347" "0" "55" "2" "206988510" "206988510" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:06:17" "NDUFS1_000017" "g.206988510C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019347" "" "0000019348" "0" "33" "2" "206988573" "206988573" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:06:26" "NDUFS1_000018" "g.206988573C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019348" "" "0000019349" "0" "33" "2" "206988653" "206988653" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:06:32" "NDUFS1_000019" "g.206988653G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019349" "" "0000019350" "0" "55" "2" "206988751" "206988751" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:06:51" "NDUFS1_000020" "g.206988751A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019350" "" "0000019351" "0" "55" "2" "206988758" "206988758" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:06:59" "NDUFS1_000021" "g.206988758A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019351" "" "0000019352" "0" "00" "2" "206988815" "206988816" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:07:04" "NDUFS1_000022" "g.206988815_206988816insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019352" "" "0000019353" "0" "55" "2" "206988882" "206988882" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:07:08" "NDUFS1_000023" "g.206988882G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019353" "" "0000019354" "0" "55" "2" "206991447" "206991447" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:07:13" "NDUFS1_000024" "g.206991447T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019354" "" "0000019355" "0" "99" "2" "206992550" "206992550" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:07:18" "NDUFS1_000008" "g.206992550C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000846" "" "0000019356" "0" "99" "2" "206992622" "206992622" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:07:23" "NDUFS1_000009" "g.206992622T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000847" "" "0000019357" "0" "99" "2" "206994851" "206994851" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:07:27" "NDUFS1_000001" "g.206994851G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000848" "" "0000019358" "0" "55" "2" "206997706" "206997706" "subst" "35" "0.000307598" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:07:33" "NDUFS1_000025" "g.206997706C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019358" "" "0000019359" "0" "00" "2" "206997836" "206997836" "del" "35" "0.0350975" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:19:42" "NDUFS1_000026" "g.206997836del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019359" "" "0000019360" "0" "77" "2" "207003230" "207003230" "subst" "35" "0.013686" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:08:02" "NDUFS1_000027" "g.207003230C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019360" "" "0000019361" "0" "55" "2" "207003238" "207003238" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-04-02 10:32:55" "NDUFS1_000028" "g.207003238T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019361" "" "0000019362" "0" "77" "2" "207003310" "207003310" "subst" "35" "0.00407504" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:08:11" "NDUFS1_000029" "g.207003310G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019362" "" "0000019363" "0" "33" "2" "207006676" "207006676" "subst" "35" "0.360526" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:08:15" "NDUFS1_000030" "g.207006676T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019363" "" "0000019364" "0" "77" "2" "207006705" "207006705" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:08:19" "NDUFS1_000002" "g.207006705G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000849" "" "0000019365" "0" "55" "2" "207007423" "207007423" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:33:07" "NDUFS1_000043" "g.207007423T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019365" "" "0000019366" "0" "33" "2" "207008754" "207008754" "subst" "35" "0.0326772" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:33:11" "NDUFS1_000044" "g.207008754G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019366" "" "0000019367" "0" "33" "2" "207008763" "207008763" "subst" "35" "0.509611" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:33:15" "NDUFS1_000045" "g.207008763C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019367" "" "0000019368" "0" "55" "2" "207008821" "207008821" "subst" "35" "0.00030755" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:58:38" "NDUFS1_000031" "g.207008821G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019368" "" "0000019369" "0" "77" "2" "207009730" "207009730" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:58:43" "NDUFS1_000032" "g.207009730A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019369" "" "0000019370" "0" "99" "2" "207009733" "207009733" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:58:48" "NDUFS1_000003" "g.207009733T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000850" "" "0000019371" "0" "99" "2" "207011643" "207011643" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:32:10" "NDUFS1_000004" "g.207011643G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000851" "" "0000019372" "0" "99" "2" "207011673" "207011673" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:58:58" "NDUFS1_000005" "g.207011673G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000852" "" "0000019373" "0" "99" "2" "207011696" "207011698" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:59:03" "NDUFS1_000007" "g.207011696_207011698del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000854" "" "0000019374" "0" "33" "2" "207012241" "207012241" "subst" "35" "0.0326003" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:59:08" "NDUFS1_000033" "g.207012241G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019374" "" "0000019375" "0" "77" "2" "207012392" "207012392" "subst" "35" "0.00230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:59:13" "NDUFS1_000034" "g.207012392T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019375" "" "0000019376" "0" "33" "2" "207012483" "207012483" "subst" "35" "0.0558973" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:59:17" "NDUFS1_000035" "g.207012483A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019376" "" "0000019377" "0" "55" "2" "207012501" "207012501" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:19:50" "NDUFS1_000036" "g.207012501G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019377" "" "0000019378" "0" "55" "2" "207012533" "207012533" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:59:29" "NDUFS1_000037" "g.207012533C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019378" "" "0000019379" "0" "00" "2" "207013834" "207013835" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:14:51" "NDUFS1_000038" "g.207013834_207013835insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019379" "" "0000019380" "0" "00" "2" "207013835" "207013835" "del" "35" "0.125819" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:59:38" "NDUFS1_000039" "g.207013835del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019380" "" "0000019381" "0" "00" "2" "207014658" "207014659" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:59:43" "NDUFS1_000040" "g.207014658_207014659del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019381" "" "0000019382" "0" "33" "2" "207017173" "207017173" "subst" "35" "0.0284484" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:59:49" "NDUFS1_000041" "g.207017173G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019382" "" "0000019383" "0" "33" "2" "207024107" "207024107" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:04:06" "NDUFS1_000042" "g.207024107G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019383" "" "0000025781" "0" "00" "2" "206988964" "206988964" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:11:22" "NDUFS1_000056" "g.206988964C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025782" "0" "00" "2" "206994967" "206994967" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:36:30" "NDUFS1_000051" "g.206994967C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025783" "0" "00" "2" "207006678" "207006678" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2020-03-13 03:23:14" "NDUFS1_000052" "g.207006678T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025784" "0" "00" "2" "207009643" "207009643" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:37:19" "NDUFS1_000053" "g.207009643T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025785" "0" "00" "2" "207011626" "207011626" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:37:43" "NDUFS1_000054" "g.207011626C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025786" "0" "00" "2" "207011681" "207011681" "subst" "35" "0.000230663" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:38:11" "NDUFS1_000055" "g.207011681A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025787" "0" "00" "2" "207017232" "207017232" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:42:01" "NDUFS1_000050" "g.207017232G>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 = 320 "{{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}}" "0000000846" "00000202" "99" "1522" "0" "1522" "0" "c.1522G>A" "13/16" "p.(Asp508Asn)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000846" "00000203" "99" "1684" "0" "1684" "0" "c.1684G>A" "15/18" "p.(Asp562Asn)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "tolerated(0.13)" "0000000846" "00000204" "99" "1747" "0" "1747" "0" "c.1747G>A" "15/18" "p.(Asp583Asn)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000846" "00000205" "99" "1855" "0" "1855" "0" "c.1855G>A" "16/19" "p.(Asp619Asn)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000846" "00000206" "99" "1897" "0" "1897" "0" "c.1897G>A" "16/19" "p.(Asp633Asn)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000847" "00000202" "99" "1450" "0" "1450" "0" "c.1450A>G" "13/16" "p.(Thr484Ala)" "r.(?)" "possibly_damaging(0.877)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000847" "00000203" "99" "1612" "0" "1612" "0" "c.1612A>G" "15/18" "p.(Thr538Ala)" "r.(?)" "probably_damaging(0.92)" "" "missense_variant" "" "" "deleterious(0.03)" "0000000847" "00000204" "99" "1675" "0" "1675" "0" "c.1675A>G" "15/18" "p.(Thr559Ala)" "r.(?)" "probably_damaging(0.92)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000847" "00000205" "99" "1783" "0" "1783" "0" "c.1783A>G" "16/19" "p.(Thr595Ala)" "r.(?)" "probably_damaging(0.92)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000847" "00000206" "99" "1825" "0" "1825" "0" "c.1825A>G" "16/19" "p.(Thr609Ala)" "r.(?)" "possibly_damaging(0.826)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000848" "00000202" "99" "1336" "0" "1336" "0" "c.1336C>T" "12/16" "p.(Arg446*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000848" "00000203" "99" "1498" "0" "1498" "0" "c.1498C>T" "14/18" "p.(Arg500*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000848" "00000204" "99" "1561" "0" "1561" "0" "c.1561C>T" "14/18" "p.(Arg521*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000848" "00000205" "99" "1669" "0" "1669" "0" "c.1669C>T" "15/19" "p.(Arg557*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000848" "00000206" "99" "1711" "0" "1711" "0" "c.1711C>T" "15/19" "p.(Arg571*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000849" "00000202" "99" "889" "0" "889" "0" "c.889C>T" "9/16" "p.(Arg297Cys)" "r.(?)" "possibly_damaging(0.711)" "" "missense_variant" "" "" "deleterious(0)" "0000000849" "00000203" "99" "1051" "0" "1051" "0" "c.1051C>T" "11/18" "p.(Arg351Cys)" "r.(?)" "possibly_damaging(0.691)" "" "missense_variant" "" "" "deleterious(0)" "0000000849" "00000204" "99" "1114" "0" "1114" "0" "c.1114C>T" "11/18" "p.(Arg372Cys)" "r.(?)" "possibly_damaging(0.711)" "" "missense_variant" "" "" "deleterious(0)" "0000000849" "00000205" "99" "1222" "0" "1222" "0" "c.1222C>T" "12/19" "p.(Arg408Cys)" "r.(?)" "possibly_damaging(0.691)" "" "missense_variant" "" "" "deleterious(0)" "0000000849" "00000206" "99" "1264" "0" "1264" "0" "c.1264C>T" "12/19" "p.(Arg422Cys)" "r.(?)" "probably_damaging(0.924)" "" "missense_variant" "" "" "deleterious(0)" "0000000850" "00000202" "99" "422" "0" "422" "0" "c.422A>G" "6/16" "p.(Asp141Gly)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000850" "00000203" "99" "584" "0" "584" "0" "c.584A>G" "8/18" "p.(Asp195Gly)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0.03)" "0000000850" "00000204" "99" "647" "0" "647" "0" "c.647A>G" "8/18" "p.(Asp216Gly)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000850" "00000205" "99" "755" "0" "755" "0" "c.755A>G" "9/19" "p.(Asp252Gly)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000850" "00000206" "99" "797" "0" "797" "0" "c.797A>G" "9/19" "p.(Asp266Gly)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000851" "00000202" "99" "388" "0" "388" "0" "c.388C>T" "5/16" "p.(Arg130Trp)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000000851" "00000203" "99" "550" "0" "550" "0" "c.550C>T" "7/18" "p.(Arg184Trp)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000000851" "00000204" "99" "613" "0" "613" "0" "c.613C>T" "7/18" "p.(Arg205Trp)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000000851" "00000205" "99" "721" "0" "721" "0" "c.721C>T" "8/19" "p.(Arg241Trp)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000000851" "00000206" "99" "763" "0" "763" "0" "c.763C>T" "8/19" "p.(Arg255Trp)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000000852" "00000202" "99" "358" "0" "358" "0" "c.358C>G" "5/16" "p.(Leu120Val)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000852" "00000203" "99" "520" "0" "520" "0" "c.520C>G" "7/18" "p.(Leu174Val)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000852" "00000204" "99" "583" "0" "583" "0" "c.583C>G" "7/18" "p.(Leu195Val)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000852" "00000205" "99" "691" "0" "691" "0" "c.691C>G" "8/19" "p.(Leu231Val)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000852" "00000206" "99" "733" "0" "733" "0" "c.733C>G" "8/19" "p.(Leu245Val)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000853" "00000202" "00" "346" "0" "346" "0" "c.346C>T" "5/16" "p.(Pro116Ser)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000000853" "00000203" "00" "508" "0" "508" "0" "c.508C>T" "7/18" "p.(Pro170Ser)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000000853" "00000204" "00" "571" "0" "571" "0" "c.571C>T" "7/18" "p.(Pro191Ser)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000000853" "00000205" "00" "679" "0" "679" "0" "c.679C>T" "8/19" "p.(Pro227Ser)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000000853" "00000206" "00" "721" "0" "721" "0" "c.721C>T" "8/19" "p.(Pro241Ser)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000000854" "00000202" "99" "335" "0" "333" "0" "c.333_335del" "" "p.(Ile112del)" "r.(?)" "" "" "" "" "" "-" "0000000854" "00000203" "99" "497" "0" "495" "0" "c.495_497del" "" "p.(Ile166del)" "r.(?)" "" "" "" "" "" "-" "0000000854" "00000204" "99" "560" "0" "558" "0" "c.558_560del" "" "p.(Ile187del)" "r.(?)" "" "" "" "" "" "-" "0000000854" "00000205" "99" "668" "0" "666" "0" "c.666_668del" "" "p.(Ile223del)" "r.(?)" "" "" "" "" "" "-" "0000000854" "00000206" "99" "710" "0" "708" "0" "c.708_710del" "" "p.(Ile237del)" "r.(?)" "" "" "" "" "" "-" "0000019336" "00000202" "00" "2817" "0" "2817" "0" "c.*966A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019336" "00000203" "00" "2979" "0" "2979" "0" "c.*966A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019336" "00000204" "00" "3042" "0" "3042" "0" "c.*966A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019336" "00000205" "00" "3150" "0" "3150" "0" "c.*966A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019336" "00000206" "00" "3192" "0" "3192" "0" "c.*966A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019337" "00000202" "00" "2717" "0" "2717" "0" "c.*866A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019337" "00000203" "00" "2879" "0" "2879" "0" "c.*866A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019337" "00000204" "00" "2942" "0" "2942" "0" "c.*866A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019337" "00000205" "00" "3050" "0" "3050" "0" "c.*866A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019337" "00000206" "00" "3092" "0" "3092" "0" "c.*866A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019338" "00000202" "00" "2697" "0" "2698" "0" "c.*846_*847insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019338" "00000203" "00" "2859" "0" "2860" "0" "c.*846_*847insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019338" "00000204" "00" "2922" "0" "2923" "0" "c.*846_*847insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019338" "00000205" "00" "3030" "0" "3031" "0" "c.*846_*847insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019338" "00000206" "00" "3072" "0" "3073" "0" "c.*846_*847insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019339" "00000202" "00" "2697" "0" "2697" "0" "c.*846del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019339" "00000203" "00" "2859" "0" "2859" "0" "c.*846del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019339" "00000204" "00" "2922" "0" "2922" "0" "c.*846del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019339" "00000205" "00" "3030" "0" "3030" "0" "c.*846del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019339" "00000206" "00" "3072" "0" "3072" "0" "c.*846del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019340" "00000202" "00" "2607" "0" "2607" "0" "c.*756A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019340" "00000203" "00" "2769" "0" "2769" "0" "c.*756A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019340" "00000204" "00" "2832" "0" "2832" "0" "c.*756A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019340" "00000205" "00" "2940" "0" "2940" "0" "c.*756A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019340" "00000206" "00" "2982" "0" "2982" "0" "c.*756A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019341" "00000202" "00" "2584" "0" "2584" "0" "c.*733A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019341" "00000203" "00" "2746" "0" "2746" "0" "c.*733A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019341" "00000204" "00" "2809" "0" "2809" "0" "c.*733A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019341" "00000205" "00" "2917" "0" "2917" "0" "c.*733A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019341" 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"" "" "-" "0000019345" "00000206" "00" "2683" "0" "2683" "0" "c.*457T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019346" "00000202" "00" "2289" "0" "2289" "0" "c.*438C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019346" "00000203" "00" "2451" "0" "2451" "0" "c.*438C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019346" "00000204" "00" "2514" "0" "2514" "0" "c.*438C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019346" "00000205" "00" "2622" "0" "2622" "0" "c.*438C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019346" "00000206" "00" "2664" "0" "2664" "0" "c.*438C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019347" "00000202" "00" "2250" "0" "2250" "0" "c.*399G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019347" "00000203" "00" "2412" "0" "2412" "0" "c.*399G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019347" "00000204" "00" "2475" "0" "2475" "0" "c.*399G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019347" "00000205" "00" "2583" "0" "2583" "0" "c.*399G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019347" "00000206" "00" "2625" "0" "2625" "0" "c.*399G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019348" "00000202" "00" "2187" "0" "2187" "0" "c.*336G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019348" "00000203" "00" "2349" "0" "2349" "0" "c.*336G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019348" "00000204" "00" "2412" "0" "2412" "0" "c.*336G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019348" "00000205" "00" "2520" "0" "2520" "0" "c.*336G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019348" "00000206" "00" "2562" "0" "2562" "0" "c.*336G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019349" "00000202" "00" "2107" "0" "2107" "0" "c.*256C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019349" "00000203" "00" "2269" "0" "2269" "0" "c.*256C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019349" "00000204" "00" "2332" "0" "2332" "0" "c.*256C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019349" "00000205" "00" "2440" "0" "2440" "0" "c.*256C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019349" "00000206" "00" "2482" "0" "2482" "0" "c.*256C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019350" "00000202" "00" "2009" "0" "2009" "0" "c.*158T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019350" "00000203" "00" "2171" "0" "2171" "0" "c.*158T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019350" "00000204" "00" "2234" "0" "2234" "0" "c.*158T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019350" "00000205" "00" "2342" "0" "2342" "0" "c.*158T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019350" "00000206" "00" "2384" "0" "2384" "0" "c.*158T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019351" "00000202" "00" "2002" "0" "2002" "0" "c.*151T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019351" "00000203" "00" "2164" "0" "2164" "0" "c.*151T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019351" "00000204" "00" "2227" "0" "2227" "0" "c.*151T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019351" "00000205" "00" "2335" "0" "2335" "0" "c.*151T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019351" "00000206" "00" "2377" "0" "2377" "0" "c.*151T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019352" "00000202" "00" "1944" "0" "1945" "0" "c.*93_*94insA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019352" "00000203" "00" "2106" "0" "2107" "0" "c.*93_*94insA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019352" "00000204" "00" "2169" "0" "2170" "0" "c.*93_*94insA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019352" "00000205" "00" "2277" "0" "2278" "0" "c.*93_*94insA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019352" "00000206" "00" "2319" "0" "2320" "0" "c.*93_*94insA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019353" "00000202" "00" "1878" "0" "1878" "0" "c.*27C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019353" "00000203" "00" "2040" "0" "2040" "0" "c.*27C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019353" "00000204" "00" "2103" "0" "2103" "0" "c.*27C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019353" "00000205" "00" "2211" "0" "2211" "0" "c.*27C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019353" "00000206" "00" "2253" "0" "2253" "0" "c.*27C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019354" "00000202" "00" "1673" "0" "1673" "0" "c.1673A>G" "" "p.(Asn558Ser)" "r.(?)" "" "" "" "" "" "-" "0000019354" "00000203" "00" "1835" "0" "1835" "0" "c.1835A>G" "" "p.(Asn612Ser)" "r.(?)" "" "" "" "" "" "-" "0000019354" "00000204" "00" "1898" "0" "1898" "0" "c.1898A>G" "" "p.(Asn633Ser)" "r.(?)" "" "" "" "" "" "-" "0000019354" "00000205" "00" "2006" "0" "2006" "0" "c.2006A>G" "" "p.(Asn669Ser)" "r.(?)" "" "" "" "" "" "-" "0000019354" "00000206" "00" "2048" "0" "2048" "0" "c.2048A>G" "" "p.(Asn683Ser)" "r.(?)" "" "" "" "" "" "-" "0000019355" "00000202" "00" "1522" "0" "1522" "0" "c.1522G>A" "" "p.(Asp508Asn)" "r.(?)" "" "" "" "" "" "-" "0000019355" "00000203" "00" "1684" "0" "1684" "0" "c.1684G>A" "" "p.(Asp562Asn)" "r.(?)" "" "" "" "" "" "-" "0000019355" "00000204" "00" "1747" "0" "1747" "0" "c.1747G>A" "" "p.(Asp583Asn)" "r.(?)" "" "" "" "" "" "-" "0000019355" "00000205" "00" "1855" "0" "1855" "0" "c.1855G>A" "" "p.(Asp619Asn)" "r.(?)" "" "" "" "" "" "-" "0000019355" "00000206" "00" "1897" "0" "1897" "0" "c.1897G>A" "" "p.(Asp633Asn)" "r.(?)" "" "" "" "" "" "-" "0000019356" "00000202" "00" "1450" "0" "1450" "0" "c.1450A>G" "" "p.(Thr484Ala)" "r.(?)" "" "" "" "" "" "-" "0000019356" "00000203" "00" "1612" "0" "1612" "0" "c.1612A>G" "" "p.(Thr538Ala)" "r.(?)" "" "" "" "" "" "-" "0000019356" "00000204" "00" "1675" "0" "1675" "0" "c.1675A>G" "" "p.(Thr559Ala)" "r.(?)" "" "" "" "" "" "-" "0000019356" "00000205" "00" "1783" "0" "1783" "0" "c.1783A>G" "" "p.(Thr595Ala)" "r.(?)" "" "" "" "" "" "-" "0000019356" "00000206" "00" "1825" "0" "1825" "0" "c.1825A>G" "" "p.(Thr609Ala)" "r.(?)" "" "" "" "" "" "-" "0000019357" "00000202" "00" "1336" "0" "1336" "0" "c.1336C>T" "" "p.(Arg446*)" "r.(?)" "" "" "" "" "" "-" "0000019357" "00000203" "00" "1498" "0" "1498" "0" "c.1498C>T" "" "p.(Arg500*)" "r.(?)" "" "" "" "" "" "-" "0000019357" "00000204" "00" "1561" "0" "1561" "0" "c.1561C>T" "" "p.(Arg521*)" "r.(?)" "" "" "" "" "" "-" "0000019357" "00000205" "00" "1669" "0" "1669" "0" "c.1669C>T" "" "p.(Arg557*)" "r.(?)" "" "" "" "" "" "-" "0000019357" "00000206" "00" "1711" "0" "1711" "0" "c.1711C>T" "" "p.(Arg571*)" "r.(?)" "" "" "" "" "" "-" "0000019358" "00000202" "00" "1183" "0" "1183" "0" "c.1183G>A" "" "p.(Val395Ile)" "r.(?)" "" "" "" "" "" "-" "0000019358" "00000203" "00" "1345" "0" "1345" "0" "c.1345G>A" "" "p.(Val449Ile)" "r.(?)" "" "" "" "" "" "-" "0000019358" "00000204" "00" "1408" "0" "1408" "0" "c.1408G>A" "" "p.(Val470Ile)" "r.(?)" "" "" "" "" "" "-" "0000019358" "00000205" "00" "1516" "0" "1516" "0" "c.1516G>A" "" "p.(Val506Ile)" "r.(?)" "" "" "" "" "" "-" "0000019358" "00000206" "00" "1558" "0" "1558" "0" "c.1558G>A" "" "p.(Val520Ile)" "r.(?)" "" "" "" "" "" "-" "0000019359" "00000202" "00" "1060" "-7" "1060" "-7" "c.1060-7del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019359" "00000203" "00" "1222" "-7" "1222" "-7" "c.1222-7del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019359" "00000204" "00" "1285" "-7" "1285" "-7" "c.1285-7del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019359" "00000205" "00" "1393" "-7" "1393" "-7" "c.1393-7del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019359" "00000206" "00" "1435" "-7" "1435" "-7" "c.1435-7del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019360" "00000202" "00" "1038" "0" "1038" "0" "c.1038G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019360" "00000203" "00" "1200" "0" "1200" "0" "c.1200G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019360" "00000204" "00" "1263" "0" "1263" "0" "c.1263G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019360" "00000205" "00" "1371" "0" "1371" "0" "c.1371G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019360" "00000206" "00" "1413" "0" "1413" "0" "c.1413G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019361" "00000202" "00" "1030" "0" "1030" "0" "c.1030A>G" "" "p.(Ile344Val)" "r.(?)" "" "" "" "" "" "-" "0000019361" "00000203" "00" "1192" "0" "1192" "0" "c.1192A>G" "" "p.(Ile398Val)" "r.(?)" "" "" "" "" "" "-" "0000019361" "00000204" "00" "1255" "0" "1255" "0" "c.1255A>G" "" "p.(Ile419Val)" "r.(?)" "" "" "" "" "" "-" "0000019361" "00000205" "00" "1363" "0" "1363" "0" "c.1363A>G" "" "p.(Ile455Val)" "r.(?)" "" "" "" "" "" "-" "0000019361" "00000206" "00" "1405" "0" "1405" "0" "c.1405A>G" "" "p.(Ile469Val)" "r.(?)" "" "" "" "" "" "-" "0000019362" "00000202" "00" "958" "0" "958" "0" "c.958C>G" "" "p.(Leu320Val)" "r.(?)" "" "" "" "" "" "-" "0000019362" "00000203" "00" "1120" "0" "1120" "0" "c.1120C>G" "" "p.(Leu374Val)" "r.(?)" "" "" "" "" "" "-" "0000019362" "00000204" "00" "1183" "0" "1183" "0" "c.1183C>G" "" "p.(Leu395Val)" "r.(?)" "" "" "" "" "" "-" "0000019362" "00000205" "00" "1291" "0" "1291" "0" "c.1291C>G" "" "p.(Leu431Val)" "r.(?)" "" "" "" "" "" "-" "0000019362" "00000206" "00" "1333" "0" "1333" "0" "c.1333C>G" "" "p.(Leu445Val)" "r.(?)" "" "" "" "" "" "-" "0000019363" "00000202" "00" "918" "0" "918" "0" "c.918A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019363" "00000203" "00" "1080" "0" "1080" "0" "c.1080A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019363" "00000204" "00" "1143" "0" "1143" "0" "c.1143A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019363" "00000205" "00" "1251" "0" "1251" "0" "c.1251A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019363" "00000206" "00" "1293" "0" "1293" "0" "c.1293A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019364" "00000202" "00" "889" "0" "889" "0" "c.889C>T" "" "p.(Arg297Cys)" "r.(?)" "" "" "" "" "" "-" "0000019364" "00000203" "00" "1051" "0" "1051" "0" "c.1051C>T" "" "p.(Arg351Cys)" "r.(?)" "" "" "" "" "" "-" "0000019364" "00000204" "00" "1114" "0" "1114" "0" "c.1114C>T" "" "p.(Arg372Cys)" "r.(?)" "" "" "" "" "" "-" "0000019364" "00000205" "00" "1222" "0" "1222" "0" "c.1222C>T" "" "p.(Arg408Cys)" "r.(?)" "" "" "" "" "" "-" "0000019364" "00000206" "00" "1264" "0" "1264" "0" "c.1264C>T" "" "p.(Arg422Cys)" "r.(?)" "" "" "" "" "" "-" "0000019365" "00000202" "00" "787" "0" "787" "0" "c.787A>G" "" "p.(Thr263Ala)" "r.(?)" "" "" "" "" "" "-" "0000019365" "00000203" "00" "949" "0" "949" "0" "c.949A>G" "" "p.(Thr317Ala)" "r.(?)" "" "" "" "" "" "-" "0000019365" "00000204" "00" "1012" "0" "1012" "0" "c.1012A>G" "" "p.(Thr338Ala)" "r.(?)" "" "" "" "" "" "-" "0000019365" "00000205" "00" "1120" "0" "1120" "0" "c.1120A>G" "" "p.(Thr374Ala)" "r.(?)" "" "" "" "" "" "-" "0000019365" "00000206" "00" "1162" "0" "1162" "0" "c.1162A>G" "" "p.(Thr388Ala)" "r.(?)" "" "" "" "" "" "-" "0000019366" "00000202" "00" "642" "0" "642" "0" "c.642C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019366" "00000203" "00" "804" "0" "804" "0" "c.804C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019366" "00000204" "00" "867" "0" "867" "0" "c.867C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019366" "00000205" "00" "975" "0" "975" "0" "c.975C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019366" "00000206" "00" "1017" "0" "1017" "0" "c.1017C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019367" "00000202" "00" "633" "0" "633" "0" "c.633G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019367" "00000203" "00" "795" "0" "795" "0" "c.795G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019367" "00000204" "00" "858" "0" "858" "0" "c.858G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019367" "00000205" "00" "966" "0" "966" "0" "c.966G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019367" "00000206" "00" "1008" "0" "1008" "0" "c.1008G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019368" "00000202" "00" "575" "0" "575" "0" "c.575C>G" "" "p.(Thr192Ser)" "r.(?)" "" "" "" "" "" "-" "0000019368" "00000203" "00" "737" "0" "737" "0" "c.737C>G" "" "p.(Thr246Ser)" "r.(?)" "" "" "" "" "" "-" "0000019368" "00000204" "00" "800" "0" "800" "0" "c.800C>G" "" "p.(Thr267Ser)" "r.(?)" "" "" "" "" "" "-" "0000019368" "00000205" "00" "908" "0" "908" "0" "c.908C>G" "" "p.(Thr303Ser)" "r.(?)" "" "" "" "" "" "-" "0000019368" "00000206" "00" "950" "0" "950" "0" "c.950C>G" "" "p.(Thr317Ser)" "r.(?)" "" "" "" "" "" "-" "0000019369" "00000202" "00" "425" "0" "425" "0" "c.425T>G" "" "p.(Val142Gly)" "r.(?)" "" "" "" "" "" "-" "0000019369" "00000203" "00" "587" "0" "587" "0" "c.587T>G" "" "p.(Val196Gly)" "r.(?)" "" "" "" "" "" "-" "0000019369" "00000204" "00" "650" "0" "650" "0" "c.650T>G" "" "p.(Val217Gly)" "r.(?)" "" "" "" "" "" "-" "0000019369" "00000205" "00" "758" "0" "758" "0" "c.758T>G" "" "p.(Val253Gly)" "r.(?)" "" "" "" "" "" "-" "0000019369" "00000206" "00" "800" "0" "800" "0" "c.800T>G" "" "p.(Val267Gly)" "r.(?)" "" "" "" "" "" "-" "0000019370" "00000202" "00" "422" "0" "422" "0" "c.422A>G" "" "p.(Asp141Gly)" "r.(?)" "" "" "" "" "" "-" "0000019370" "00000203" "00" "584" "0" "584" "0" "c.584A>G" "" "p.(Asp195Gly)" "r.(?)" "" "" "" "" "" "-" "0000019370" "00000204" "00" "647" "0" "647" "0" "c.647A>G" "" "p.(Asp216Gly)" "r.(?)" "" "" "" "" "" "-" "0000019370" "00000205" "00" "755" "0" "755" "0" "c.755A>G" "" "p.(Asp252Gly)" "r.(?)" "" "" "" "" "" "-" "0000019370" "00000206" "00" "797" "0" "797" "0" "c.797A>G" "" "p.(Asp266Gly)" "r.(?)" "" "" "" "" "" "-" "0000019371" "00000202" "00" "388" "0" "388" "0" "c.388C>T" "" "p.(Arg130Trp)" "r.(?)" "" "" "" "" "" "-" "0000019371" "00000203" "00" "550" "0" "550" "0" "c.550C>T" "" "p.(Arg184Trp)" "r.(?)" "" "" "" "" "" "-" "0000019371" "00000204" "00" "613" "0" "613" "0" "c.613C>T" "" "p.(Arg205Trp)" "r.(?)" "" "" "" "" "" "-" "0000019371" "00000205" "00" "721" "0" "721" "0" "c.721C>T" "" "p.(Arg241Trp)" "r.(?)" "" "" "" "" "" "-" "0000019371" "00000206" "00" "763" "0" "763" "0" "c.763C>T" "" "p.(Arg255Trp)" "r.(?)" "" "" "" "" "" "-" "0000019372" "00000202" "00" "358" "0" "358" "0" "c.358C>G" "" "p.(Leu120Val)" "r.(?)" "" "" "" "" "" "-" "0000019372" "00000203" "00" "520" "0" "520" "0" "c.520C>G" "" "p.(Leu174Val)" "r.(?)" "" "" "" "" "" "-" "0000019372" "00000204" "00" "583" "0" "583" "0" "c.583C>G" "" "p.(Leu195Val)" "r.(?)" "" "" "" "" "" "-" "0000019372" "00000205" "00" "691" "0" "691" "0" "c.691C>G" "" "p.(Leu231Val)" "r.(?)" "" "" "" "" "" "-" "0000019372" "00000206" "00" "733" "0" "733" "0" "c.733C>G" "" "p.(Leu245Val)" "r.(?)" "" "" "" "" "" "-" "0000019373" "00000202" "00" "333" "0" "335" "0" "c.333_335del" "" "p.(Ile112del)" "r.(?)" "" "" "" "" "" "-" "0000019373" "00000203" "00" "495" "0" "497" "0" "c.495_497del" "" "p.(Ile166del)" "r.(?)" "" "" "" "" "" "-" "0000019373" "00000204" "00" "558" "0" "560" "0" "c.558_560del" "" "p.(Ile187del)" "r.(?)" "" "" "" "" "" "-" "0000019373" "00000205" "00" "666" "0" "668" "0" "c.666_668del" "" "p.(Ile223del)" "r.(?)" "" "" "" "" "" "-" "0000019373" "00000206" "00" "708" "0" "710" "0" "c.708_710del" "" "p.(Ile237del)" "r.(?)" "" "" "" "" "" "-" "0000019374" "00000202" "00" "218" "14" "218" "14" "c.218+14C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019374" "00000203" "00" "380" "14" "380" "14" "c.380+14C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019374" "00000204" "00" "443" "14" "443" "14" "c.443+14C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019374" "00000205" "00" "551" "14" "551" "14" "c.551+14C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019374" "00000206" "00" "593" "14" "593" "14" "c.593+14C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019375" "00000202" "00" "88" "-7" "88" "-7" "c.88-7A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019375" "00000203" "00" "250" "-7" "250" "-7" "c.250-7A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019375" "00000204" "00" "313" "-7" "313" "-7" "c.313-7A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019375" "00000205" "00" "421" "-7" "421" "-7" "c.421-7A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019375" "00000206" "00" "463" "-7" "463" "-7" "c.463-7A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019376" "00000202" "00" "81" "0" "81" "0" "c.81T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019376" "00000203" "00" "243" "0" "243" "0" "c.243T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019376" "00000204" "00" "306" "0" "306" "0" "c.306T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019376" "00000205" "00" "414" "0" "414" "0" "c.414T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019376" "00000206" "00" "456" "0" "456" "0" "c.456T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019377" "00000202" "00" "63" "0" "63" "0" "c.63C>A" "" "p.(Asp21Glu)" "r.(?)" "" "" "" "" "" "-" "0000019377" "00000203" "00" "225" "0" "225" "0" "c.225C>A" "" "p.(Asp75Glu)" "r.(?)" "" "" "" "" "" "-" "0000019377" "00000204" "00" "288" "0" "288" "0" "c.288C>A" "" "p.(Asp96Glu)" "r.(?)" "" "" "" "" "" "-" "0000019377" "00000205" "00" "396" "0" "396" "0" "c.396C>A" "" "p.(Asp132Glu)" "r.(?)" "" "" "" "" "" "-" "0000019377" "00000206" "00" "438" "0" "438" "0" "c.438C>A" "" "p.(Asp146Glu)" "r.(?)" "" "" "" "" "" "-" "0000019378" "00000202" "00" "31" "0" "31" "0" "c.31G>A" "" "p.(Ala11Thr)" "r.(?)" "" "" "" "" "" "-" "0000019378" "00000203" "00" "193" "0" "193" "0" "c.193G>A" "" "p.(Ala65Thr)" "r.(?)" "" "" "" "" "" "-" "0000019378" "00000204" "00" "256" "0" "256" "0" "c.256G>A" "" "p.(Ala86Thr)" "r.(?)" "" "" "" "" "" "-" "0000019378" "00000205" "00" "364" "0" "364" "0" "c.364G>A" "" "p.(Ala122Thr)" "r.(?)" "" "" "" "" "" "-" "0000019378" "00000206" "00" "406" "0" "406" "0" "c.406G>A" "" "p.(Ala136Thr)" "r.(?)" "" "" "" "" "" "-" "0000019379" "00000202" "00" "6" "-1277" "6" "-1276" "c.6-1277_6-1276insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019379" "00000203" "00" "91" "-15" "91" "-14" "c.91-15_91-14insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019379" "00000204" "00" "154" "-15" "154" "-14" "c.154-15_154-14insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019379" "00000205" "00" "262" "-15" "262" "-14" "c.262-15_262-14insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019379" "00000206" "00" "304" "-15" "304" "-14" "c.304-15_304-14insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019380" "00000202" "00" "6" "-1277" "6" "-1277" "c.6-1277del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019380" "00000203" "00" "91" "-15" "91" "-15" "c.91-15del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019380" "00000204" "00" "154" "-15" "154" "-15" "c.154-15del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019380" "00000205" "00" "262" "-15" "262" "-15" "c.262-15del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019380" "00000206" "00" "304" "-15" "304" "-15" "c.304-15del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019381" "00000202" "00" "6" "-2101" "6" "-2100" "c.6-2101_6-2100del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019381" "00000203" "00" "-18" "-10" "-18" "-9" "c.-18-10_-18-9del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019381" "00000204" "00" "154" "-839" "154" "-838" "c.154-839_154-838del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019381" "00000205" "00" "154" "-10" "154" "-9" "c.154-10_154-9del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019381" "00000206" "00" "196" "-10" "196" "-9" "c.196-10_196-9del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019382" "00000202" "00" "5" "1169" "5" "1169" "c.5+1169C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019382" "00000203" "00" "-19" "1169" "-19" "1169" "c.-19+1169C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019382" "00000204" "00" "123" "0" "123" "0" "c.123C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019382" "00000205" "00" "123" "0" "123" "0" "c.123C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019382" "00000206" "00" "165" "0" "165" "0" "c.165C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019383" "00000202" "00" "-103" "0" "-103" "0" "c.-103C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019383" "00000203" "00" "-126" "0" "-126" "0" "c.-126C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019383" "00000204" "00" "-47" "0" "-47" "0" "c.-47C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019383" "00000205" "00" "-47" "0" "-47" "0" "c.-47C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019383" "00000206" "00" "-61" "-189" "-61" "-189" "c.-250C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025781" "00000202" "00" "1796" "0" "1796" "0" "c.1796G>A" "" "p.(Cys599Tyr)" "r.(?)" "" "" "" "" "" "-" "0000025781" "00000203" "00" "1958" "0" "1958" "0" "c.1958G>A" "" "p.(Cys653Tyr)" "r.(?)" "" "" "" "" "" "-" "0000025781" "00000204" "00" "2021" "0" "2021" "0" "c.2021G>A" "" "p.(Cys674Tyr)" "r.(?)" "" "" "" "" "" "-" "0000025781" "00000205" "00" "2129" "0" "2129" "0" "c.2129G>A" "" "p.(Cys710Tyr)" "r.(?)" "" "" "" "" "" "-" "0000025781" "00000206" "00" "2171" "0" "2171" "0" "c.2171G>A" "" "p.(Cys724Tyr)" "r.(?)" "" "" "" "" "" "-" "0000025782" "00000202" "00" "1221" "-1" "1221" "-1" "c.1221-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025782" "00000203" "00" "1383" "-1" "1383" "-1" "c.1383-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025782" "00000204" "00" "1446" "-1" "1446" "-1" "c.1446-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025782" "00000205" "00" "1554" "-1" "1554" "-1" "c.1554-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025782" "00000206" "00" "1596" "-1" "1596" "-1" "c.1596-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025783" "00000202" "00" "916" "0" "916" "0" "c.916A>G" "" "p.(Arg306Gly)" "r.(?)" "" "" "" "" "" "-" "0000025783" "00000203" "00" "1078" "0" "1078" "0" "c.1078A>G" "" "p.(Arg360Gly)" "r.(?)" "" "" "" "" "" "-" "0000025783" "00000204" "00" "1141" "0" "1141" "0" "c.1141A>G" "" "p.(Arg381Gly)" "r.(?)" "" "" "" "" "" "-" "0000025783" "00000205" "00" "1249" "0" "1249" "0" "c.1249A>G" "" "p.(Arg417Gly)" "r.(?)" "" "" "" "" "" "-" "0000025783" "00000206" "00" "1291" "0" "1291" "0" "c.1291A>G" "" "p.(Arg431Gly)" "r.(?)" "" "" "" "" "" "-" "0000025784" "00000202" "00" "512" "0" "512" "0" "c.512A>G" "" "p.(Asn171Ser)" "r.(?)" "" "" "" "" "" "-" "0000025784" "00000203" "00" "674" "0" "674" "0" "c.674A>G" "" "p.(Asn225Ser)" "r.(?)" "" "" "" "" "" "-" "0000025784" "00000204" "00" "737" "0" "737" "0" "c.737A>G" "" "p.(Asn246Ser)" "r.(?)" "" "" "" "" "" "-" "0000025784" "00000205" "00" "845" "0" "845" "0" "c.845A>G" "" "p.(Asn282Ser)" "r.(?)" "" "" "" "" "" "-" "0000025784" "00000206" "00" "887" "0" "887" "0" "c.887A>G" "" "p.(Asn296Ser)" "r.(?)" "" "" "" "" "" "-" "0000025785" "00000202" "00" "404" "1" "404" "1" "c.404+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025785" "00000203" "00" "566" "1" "566" "1" "c.566+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025785" "00000204" "00" "629" "1" "629" "1" "c.629+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025785" "00000205" "00" "737" "1" "737" "1" "c.737+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025785" "00000206" "00" "779" "1" "779" "1" "c.779+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025786" "00000202" "00" "350" "0" "350" "0" "c.350T>C" "" "p.(Val117Ala)" "r.(?)" "" "" "" "" "" "-" "0000025786" "00000203" "00" "512" "0" "512" "0" "c.512T>C" "" "p.(Val171Ala)" "r.(?)" "" "" "" "" "" "-" "0000025786" "00000204" "00" "575" "0" "575" "0" "c.575T>C" "" "p.(Val192Ala)" "r.(?)" "" "" "" "" "" "-" "0000025786" "00000205" "00" "683" "0" "683" "0" "c.683T>C" "" "p.(Val228Ala)" "r.(?)" "" "" "" "" "" "-" "0000025786" "00000206" "00" "725" "0" "725" "0" "c.725T>C" "" "p.(Val242Ala)" "r.(?)" "" "" "" "" "" "-" "0000025787" "00000202" "00" "5" "1110" "5" "1110" "c.5+1110C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025787" "00000203" "00" "-19" "1110" "-19" "1110" "c.-19+1110C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025787" "00000204" "00" "64" "0" "64" "0" "c.64C>T" "" "p.(Arg22*)" "r.(?)" "" "" "" "" "" "-" "0000025787" "00000205" "00" "64" "0" "64" "0" "c.64C>T" "" "p.(Arg22*)" "r.(?)" "" "" "" "" "" "-" "0000025787" "00000206" "00" "106" "0" "106" "0" "c.106C>T" "" "p.(Arg36*)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0