### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AIFM1) # 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}}" "AIFM1" "apoptosis-inducing factor, mitochondrion-associated, 1" "X" "q26.1" "unknown" "NC_000023.10" "UD_132119144891" "" "" "" "1" "1" "8768" "9131" "300169" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; 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 13:44:12" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 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}}" "00000024" "AIFM1" "transcript variant 3" "001" "NM_145813.2" "" "NP_665812.1" "" "" "" "-231" "1176" "981" "129299861" "129263337" "00001" "2013-11-07 13:44:40" "" "" "" "X" "00000025" "AIFM1" "transcript variant 2" "002" "NM_145812.2" "" "NP_665811.1" "" "" "" "-231" "2025" "1830" "129299861" "129263337" "00001" "2013-11-07 13:44:40" "" "" "" "X" "00000026" "AIFM1" "transcript variant 1" "003" "NM_004208.3" "" "NP_004199.1" "" "" "" "-231" "2037" "1842" "129299861" "129263337" "00001" "2013-11-07 13:44:40" "" "" "" "X" "00000027" "AIFM1" "transcript variant 5" "004" "NM_001130847.3" "" "NP_001124319.1" "" "" "" "-231" "2240" "975" "129299861" "129263337" "00001" "2013-11-07 13:44:40" "" "" "" "X" "00000028" "AIFM1" "transcript variant 4" "005" "NM_001130846.2" "" "NP_001124318.1" "" "" "" "-944" "981" "786" "129272015" "129263337" "00001" "2013-11-07 13:44:40" "" "" "" "X" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00411" "COXPD6" "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6" "300816" "" "" "" "00001" "2014-04-08 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AIFM1" "00411" ## 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 = 37 "{{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}}" "0000001545" "0" "99" "X" "129281470" "129281472" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-03-01 01:27:45" "AIFM1_000001" "g.129281470_129281472del" "" "{PMID:20362274:20362274}" "" "rs387906500" "del" "0" "; clinVar;" "" "" "" "" "" "MSCV_0001545" "" "0000023515" "0" "99" "X" "129267300" "129267300" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-23 14:36:57" "AIFM1_000005" "g.129267300T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023515" "" "0000023516" "0" "00" "X" "129281468" "129281470" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-03-01 02:57:38" "AIFM1_000004" "g.129281468_129281470del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023516" "" "0000026847" "0" "00" "X" "129263483" "129263483" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:51:07" "AIFM1_000039" "g.129263483G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026848" "0" "00" "X" "129263541" "129263541" "subst" "35" "0.00776295" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2020-08-13 23:33:02" "AIFM1_000037" "g.129263541A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026849" "0" "00" "X" "129264068" "129264068" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:48:03" "AIFM1_000038" "g.129264068T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026850" "0" "00" "X" "129264071" "129264071" "subst" "35" "0.00028401" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:13:51" "AIFM1_000029" "g.129264071C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026851" "0" "00" "X" "129264072" "129264072" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-08-06 10:35:46" "AIFM1_000030" "g.129264072G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026852" "0" "00" "X" "129264106" "129264106" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:14:43" "AIFM1_000031" "g.129264106C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026853" "0" "00" "X" "129265722" "129265722" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:15:06" "AIFM1_000032" "g.129265722T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026854" "0" "00" "X" "129265742" "129265742" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:15:26" "AIFM1_000033" "g.129265742G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026855" "0" "00" "X" "129267320" "129267320" "subst" "51" "0.00293477" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-05-27 19:54:38" "AIFM1_000034" "g.129267320A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026856" "0" "00" "X" "129267348" "129267348" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-05-27 19:54:39" "AIFM1_000035" "g.129267348C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026857" "0" "00" "X" "129267407" "129267407" "subst" "35" "0.00179873" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:06:36" "AIFM1_000036" "g.129267407G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026858" "0" "00" "X" "129270098" "129270098" "subst" "51" "0.00321878" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-01 22:49:53" "AIFM1_000026" "g.129270098A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026859" "0" "00" "X" "129270668" "129270668" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 14:25:03" "AIFM1_000027" "g.129270668C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026860" "0" "00" "X" "129270701" "129270701" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-01 22:49:53" "AIFM1_000028" "g.129270701C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026861" "0" "00" "X" "129271081" "129271081" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2020-08-13 11:43:01" "AIFM1_000007" "g.129271081G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026862" "0" "00" "X" "129271132" "129271132" "subst" "35" "0.03588" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:02" "AIFM1_000009" "g.129271132T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026863" "0" "00" "X" "129272587" "129272587" "subst" "35" "0.00056802" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:22" "AIFM1_000012" "g.129272587G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026864" "0" "00" "X" "129272617" "129272617" "subst" "35" "0.0376787" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:42" "AIFM1_000014" "g.129272617G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026865" "0" "00" "X" "129273827" "129273827" "subst" "35" "0.0000946701" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:41:01" "AIFM1_000015" "g.129273827C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026866" "0" "00" "X" "129279559" "129279559" "subst" "35" "0.00160939" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2020-09-01 12:48:36" "AIFM1_000016" "g.129279559G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026867" "0" "00" "X" "129281476" "129281476" "subst" "35" "0.0000946701" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:41:37" "AIFM1_000017" "g.129281476T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026868" "0" "00" "X" "129281749" "129281749" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:41:55" "AIFM1_000018" "g.129281749C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026869" "0" "00" "X" "129281835" "129281835" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:42:54" "AIFM1_000019" "g.129281835T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026870" "0" "00" "X" "129283454" "129283454" "subst" "35" "0.0000946701" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:43:29" "AIFM1_000020" "g.129283454G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026871" "0" "00" "X" "129283506" "129283506" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:43:53" "AIFM1_000021" "g.129283506T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026872" "0" "00" "X" "129283520" "129283520" "subst" "35" "0.5098" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:44:28" "AIFM1_000022" "g.129283520A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026873" "0" "00" "X" "129283531" "129283531" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-05-27 19:54:39" "AIFM1_000023" "g.129283531T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026874" "0" "00" "X" "129290514" "129290514" "subst" "35" "0.0000946701" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:45:14" "AIFM1_000024" "g.129290514G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026875" "0" "00" "X" "129290550" "129290550" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-30 04:19:45" "AIFM1_000025" "g.129290550G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026876" "0" "00" "X" "129299528" "129299528" "subst" "35" "0.00541105" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:37:22" "AIFM1_000006" "g.129299528G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026877" "0" "00" "X" "129299559" "129299559" "subst" "35" "0.000284145" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-09 09:11:27" "AIFM1_000008" "g.129299559G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026878" "0" "00" "X" "129299770" "129299770" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-26 05:47:26" "AIFM1_000010" "g.129299770G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026879" "0" "00" "X" "129299795" "129299795" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:22" "AIFM1_000011" "g.129299795C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026880" "0" "00" "X" "129299815" "129299815" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:39" "AIFM1_000013" "g.129299815C>T" "" "" "" "" "" "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 = 167 "{{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}}" "0000001545" "00000024" "99" "107" "-10310" "107" "-10312" "c.107-10312_107-10310del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001545" "00000025" "99" "591" "0" "589" "0" "c.589_591del" "" "p.(Arg197del)" "r.(?)" "" "" "" "" "" "-" "0000001545" "00000026" "99" "603" "0" "601" "0" "c.601_603del" "" "p.(Arg201del)" "r.(?)" "" "" "" "" "" "-" "0000001545" "00000027" "99" "603" "0" "601" "0" "c.601_603del" "" "p.(Arg201del)" "r.(?)" "" "" "" "" "" "-" "0000023515" "00000024" "00" "575" "0" "575" "0" "c.575A>G" "" "p.(Gln192Arg)" "r.(?)" "" "" "" "" "" "-" "0000023515" "00000025" "00" "1424" "0" "1424" "0" "c.1424A>G" "" "p.(Gln475Arg)" "r.(?)" "" "" "" "" "" "-" "0000023515" "00000026" "00" "1436" "0" "1436" "0" "c.1436A>G" "" "p.(Gln479Arg)" "r.(?)" "" "" "" "" "" "-" "0000023515" "00000027" "00" "1639" "0" "1639" "0" "c.*664A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023515" "00000028" "00" "380" "0" "380" "0" "c.380A>G" "" "p.(Gln127Arg)" "r.(?)" "" "" "" "" "" "-" "0000023516" "00000024" "00" "107" "-10310" "107" "-10308" "c.107-10310_107-10308del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023516" "00000025" "00" "591" "0" "593" "0" "c.591_593del" "" "p.(Arg197del)" "r.(?)" "" "" "" "" "" "-" "0000023516" "00000026" "00" "603" "0" "605" "0" "c.603_605del" "" "p.(Arg201del)" "r.(?)" "" "" "" "" "" "-" "0000023516" "00000027" "00" "603" "0" "605" "0" "c.603_605del" "" "p.(Arg201del)" "r.(?)" "" "" "" "" "" "-" "0000026847" "00000024" "00" "1030" "0" "1030" "0" "c.*49C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026847" "00000025" "00" "1879" "0" "1879" "0" "c.*49C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026847" "00000026" "00" "1891" "0" "1891" "0" "c.*49C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026847" "00000027" "00" "2094" "0" "2094" "0" "c.*1119C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026847" "00000028" "00" "835" "0" "835" "0" "c.*49C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026848" "00000024" "00" "972" "0" "972" "0" "c.972T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026848" "00000025" "00" "1821" "0" "1821" "0" "c.1821T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026848" "00000026" "00" "1833" "0" "1833" "0" "c.1833T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026848" "00000027" "00" "2036" "0" "2036" "0" "c.*1061T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026848" "00000028" "00" "777" "0" "777" "0" "c.777T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026849" "00000024" "00" "786" "0" "786" "0" "c.786A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026849" "00000025" "00" "1635" "0" "1635" "0" "c.1635A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026849" "00000026" "00" "1647" "0" "1647" "0" "c.1647A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026849" "00000027" "00" "1850" "0" "1850" "0" "c.*875A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026849" "00000028" "00" "591" "0" "591" "0" "c.591A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026850" "00000024" "00" "783" "0" "783" "0" "c.783G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026850" "00000025" "00" "1632" "0" "1632" "0" "c.1632G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026850" "00000026" "00" "1644" "0" "1644" "0" "c.1644G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026850" "00000027" "00" "1847" "0" "1847" "0" "c.*872G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026850" "00000028" "00" "588" "0" "588" "0" "c.588G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026851" "00000024" "00" "782" "0" "782" "0" "c.782C>T" "" "p.(Pro261Leu)" "r.(?)" "" "" "" "" "" "-" "0000026851" "00000025" "00" "1631" "0" "1631" "0" "c.1631C>T" "" "p.(Pro544Leu)" "r.(?)" "" "" "" "" "" "-" "0000026851" "00000026" "00" "1643" "0" "1643" "0" "c.1643C>T" "" "p.(Pro548Leu)" "r.(?)" "" "" "" "" "" "-" "0000026851" "00000027" "00" "1846" "0" "1846" "0" "c.*871C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026851" "00000028" "00" "587" "0" "587" "0" "c.587C>T" "" "p.(Pro196Leu)" "r.(?)" "" "" "" "" "" "-" "0000026852" "00000024" "00" "748" "0" "748" "0" "c.748G>A" "" "p.(Glu250Lys)" "r.(?)" "" "" "" "" "" "-" "0000026852" "00000025" "00" "1597" "0" "1597" "0" "c.1597G>A" "" "p.(Glu533Lys)" "r.(?)" "" "" "" "" "" "-" "0000026852" "00000026" "00" "1609" "0" "1609" "0" "c.1609G>A" "" "p.(Glu537Lys)" "r.(?)" "" "" "" "" "" "-" "0000026852" "00000027" "00" "1812" "0" "1812" "0" "c.*837G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026852" "00000028" "00" "553" "0" "553" "0" "c.553G>A" "" "p.(Glu185Lys)" "r.(?)" "" "" "" "" "" "-" "0000026853" "00000024" "00" "640" "0" "640" "0" "c.640A>T" "" "p.(Ser214Cys)" "r.(?)" "" "" "" "" "" "-" "0000026853" "00000025" "00" "1489" "0" "1489" "0" "c.1489A>T" "" "p.(Ser497Cys)" "r.(?)" "" "" "" "" "" "-" "0000026853" "00000026" "00" "1501" "0" "1501" "0" "c.1501A>T" "" "p.(Ser501Cys)" "r.(?)" "" "" "" "" "" "-" "0000026853" "00000027" "00" "1704" "0" "1704" "0" "c.*729A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026853" "00000028" "00" "445" "0" "445" "0" "c.445A>T" "" "p.(Ser149Cys)" "r.(?)" "" "" "" "" "" "-" "0000026854" "00000024" "00" "620" "0" "620" "0" "c.620C>T" "" "p.(Ala207Val)" "r.(?)" "" "" "" "" "" "-" "0000026854" "00000025" "00" "1469" "0" "1469" "0" "c.1469C>T" "" "p.(Ala490Val)" "r.(?)" "" "" "" "" "" "-" "0000026854" "00000026" "00" "1481" "0" "1481" "0" "c.1481C>T" "" "p.(Ala494Val)" "r.(?)" "" "" "" "" "" "-" "0000026854" "00000027" "00" "1684" "0" "1684" "0" "c.*709C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026854" "00000028" "00" "425" "0" "425" "0" "c.425C>T" "" "p.(Ala142Val)" "r.(?)" "" "" "" "" "" "-" "0000026855" "00000024" "00" "555" "0" "555" "0" "c.555T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026855" "00000025" "00" "1404" "0" "1404" "0" "c.1404T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026855" "00000026" "00" "1416" "0" "1416" "0" "c.1416T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026855" "00000027" "00" "1619" "0" "1619" "0" "c.*644T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026855" "00000028" "00" "360" "0" "360" "0" "c.360T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026856" "00000024" "00" "527" "0" "527" "0" "c.527G>T" "" "p.(Arg176Ile)" "r.(?)" "" "" "" "" "" "-" "0000026856" "00000025" "00" "1376" "0" "1376" "0" "c.1376G>T" "" "p.(Arg459Ile)" "r.(?)" "" "" "" "" "" "-" "0000026856" "00000026" "00" "1388" "0" "1388" "0" "c.1388G>T" "" "p.(Arg463Ile)" "r.(?)" "" "" "" "" "" "-" "0000026856" "00000027" "00" "1591" "0" "1591" "0" "c.*616G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026856" "00000028" "00" "332" "0" "332" "0" "c.332G>T" "" "p.(Arg111Ile)" "r.(?)" "" "" "" "" "" "-" "0000026857" "00000024" "00" "468" "0" "468" "0" "c.468C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026857" "00000025" "00" "1317" "0" "1317" "0" "c.1317C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026857" "00000026" "00" "1329" "0" "1329" "0" "c.1329C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026857" "00000027" "00" "1532" "0" "1532" "0" "c.*557C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026857" "00000028" "00" "273" "0" "273" "0" "c.273C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026858" "00000024" "00" "366" "0" "366" "0" "c.366T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026858" "00000025" "00" "1215" "0" "1215" "0" "c.1215T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026858" "00000026" "00" "1227" "0" "1227" "0" "c.1227T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026858" "00000027" "00" "1430" "0" "1430" "0" "c.*455T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026858" "00000028" "00" "171" "0" "171" "0" "c.171T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026859" "00000024" "00" "253" "0" "253" "0" "c.253G>A" "" "p.(Val85Ile)" "r.(?)" "" "" "" "" "" "-" "0000026859" "00000025" "00" "1102" "0" "1102" "0" "c.1102G>A" "" "p.(Val368Ile)" "r.(?)" "" "" "" "" "" "-" "0000026859" "00000026" "00" "1114" "0" "1114" "0" "c.1114G>A" "" "p.(Val372Ile)" "r.(?)" "" "" "" "" "" "-" "0000026859" "00000027" "00" "1317" "0" "1317" "0" "c.*342G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026859" "00000028" "00" "58" "0" "58" "0" "c.58G>A" "" "p.(Val20Ile)" "r.(?)" "" "" "" "" "" "-" "0000026860" "00000024" "00" "220" "0" "220" "0" "c.220G>A" "" "p.(Val74Ile)" "r.(?)" "" "" "" "" "" "-" "0000026860" "00000025" "00" "1069" "0" "1069" "0" "c.1069G>A" "" "p.(Val357Ile)" "r.(?)" "" "" "" "" "" "-" "0000026860" "00000026" "00" "1081" "0" "1081" "0" "c.1081G>A" "" "p.(Val361Ile)" "r.(?)" "" "" "" "" "" "-" "0000026860" "00000027" "00" "1284" "0" "1284" "0" "c.*309G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026860" "00000028" "00" "25" "0" "25" "0" "c.25G>A" "" "p.(Val9Ile)" "r.(?)" "" "" "" "" "" "-" "0000026861" "00000024" "00" "186" "0" "186" "0" "c.186C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026861" "00000025" "00" "1035" "0" "1035" "0" "c.1035C>T" "" "" "" "" "" "" "" "" "-" "0000026861" "00000026" "00" "1047" "0" "1047" "0" "c.1047C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026861" "00000027" "00" "1250" "0" "1250" "0" "c.*275C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026861" "00000028" "00" "-10" "0" "-10" "0" "c.-10C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026862" "00000024" "00" "135" "0" "135" "0" "c.135A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026862" "00000025" "00" "984" "0" "984" "0" "c.984A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026862" "00000026" "00" "996" "0" "996" "0" "c.996A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026862" "00000027" "00" "1199" "0" "1199" "0" "c.*224A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026862" "00000028" "00" "-61" "0" "-61" "0" "c.-61A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026863" "00000024" "00" "107" "-1427" "107" "-1427" "c.107-1427C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026863" "00000025" "00" "936" "0" "936" "0" "c.936C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026863" "00000026" "00" "948" "0" "948" "0" "c.948C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026863" "00000027" "00" "948" "0" "948" "0" "c.948C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026863" "00000028" "00" "-944" "-572" "-944" "-572" "c.-1516C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026864" "00000024" "00" "107" "-1457" "107" "-1457" "c.107-1457C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026864" "00000025" "00" "906" "0" "906" "0" "c.906C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026864" "00000026" "00" "918" "0" "918" "0" "c.918C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026864" "00000027" "00" "918" "0" "918" "0" "c.918C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026864" "00000028" "00" "-944" "-602" "-944" "-602" "c.-1546C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026865" "00000024" "00" "107" "-2667" "107" "-2667" "c.107-2667G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026865" "00000025" "00" "789" "0" "789" "0" "c.789G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026865" "00000026" "00" "801" "0" "801" "0" "c.801G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026865" "00000027" "00" "801" "0" "801" "0" "c.801G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026865" "00000028" "00" "-944" "-1812" "-944" "-1812" "c.-2756G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026866" "00000024" "00" "107" "-8399" "107" "-8399" "c.107-8399C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026866" "00000025" "00" "594" "-15" "594" "-15" "c.594-15C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026866" "00000026" "00" "606" "-15" "606" "-15" "c.606-15C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026866" "00000027" "00" "606" "-15" "606" "-15" "c.606-15C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026867" "00000024" "00" "107" "-10316" "107" "-10316" "c.107-10316A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026867" "00000025" "00" "585" "0" "585" "0" "c.585A>C" "" "p.(Lys195Asn)" "r.(?)" "" "" "" "" "" "-" "0000026867" "00000026" "00" "597" "0" "597" "0" "c.597A>C" "" "p.(Lys199Asn)" "r.(?)" "" "" "" "" "" "-" "0000026867" "00000027" "00" "597" "0" "597" "0" "c.597A>C" "" "p.(Lys199Asn)" "r.(?)" "" "" "" "" "" "-" "0000026868" "00000024" "00" "107" "-10589" "107" "-10589" "c.107-10589G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026868" "00000025" "00" "440" "0" "440" "0" "c.440G>A" "" "p.(Arg147Gln)" "r.(?)" "" "" "" "" "" "-" "0000026868" "00000026" "00" "452" "0" "452" "0" "c.452G>A" "" "p.(Arg151Gln)" "r.(?)" "" "" "" "" "" "-" "0000026868" "00000027" "00" "452" "0" "452" "0" "c.452G>A" "" "p.(Arg151Gln)" "r.(?)" "" "" "" "" "" "-" "0000026869" "00000024" "00" "107" "-10675" "107" "-10675" "c.107-10675A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026869" "00000025" "00" "354" "0" "354" "0" "c.354A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026869" "00000026" "00" "366" "0" "366" "0" "c.366A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026869" "00000027" "00" "366" "0" "366" "0" "c.366A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026870" "00000024" "00" "107" "-12294" "107" "-12294" "c.107-12294C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026870" "00000025" "00" "327" "0" "327" "0" "c.327C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026870" "00000026" "00" "339" "0" "339" "0" "c.339C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026870" "00000027" "00" "339" "0" "339" "0" "c.339C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026871" "00000024" "00" "107" "-12346" "107" "-12346" "c.107-12346A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026871" "00000025" "00" "275" "0" "275" "0" "c.275A>G" "" "p.(Asn92Ser)" "r.(?)" "" "" "" "" "" "-" "0000026871" "00000026" "00" "287" "0" "287" "0" "c.287A>G" "" "p.(Asn96Ser)" "r.(?)" "" "" "" "" "" "-" "0000026871" "00000027" "00" "287" "0" "287" "0" "c.287A>G" "" "p.(Asn96Ser)" "r.(?)" "" "" "" "" "" "-" "0000026872" "00000024" "00" "107" "-12360" "107" "-12360" "c.107-12360T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026872" "00000025" "00" "261" "0" "261" "0" "c.261T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026872" "00000026" "00" "273" "0" "273" "0" "c.273T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026872" "00000027" "00" "273" "0" "273" "0" "c.273T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026873" "00000024" "00" "107" "-12371" "107" "-12371" "c.107-12371A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026873" "00000025" "00" "250" "0" "250" "0" "c.250A>G" "" "p.(Met84Val)" "r.(?)" "" "" "" "" "" "-" "0000026873" "00000026" "00" "262" "0" "262" "0" "c.262A>G" "" "p.(Met88Val)" "r.(?)" "" "" "" "" "" "-" "0000026873" "00000027" "00" "262" "0" "262" "0" "c.262A>G" "" "p.(Met88Val)" "r.(?)" "" "" "" "" "" "-" "0000026874" "00000024" "00" "106" "9011" "106" "9011" "c.106+9011C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026874" "00000025" "00" "107" "-1253" "107" "-1253" "c.107-1253C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026874" "00000026" "00" "170" "0" "170" "0" "c.170C>G" "" "p.(Ser57Cys)" "r.(?)" "" "" "" "" "" "-" "0000026874" "00000027" "00" "170" "0" "170" "0" "c.170C>G" "" "p.(Ser57Cys)" "r.(?)" "" "" "" "" "" "-" "0000026875" "00000024" "00" "106" "8975" "106" "8975" "c.106+8975C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026875" "00000025" "00" "107" "-1289" "107" "-1289" "c.107-1289C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026875" "00000026" "00" "134" "0" "134" "0" "c.134C>G" "" "p.(Pro45Arg)" "r.(?)" "" "" "" "" "" "-" "0000026875" "00000027" "00" "134" "0" "134" "0" "c.134C>G" "" "p.(Pro45Arg)" "r.(?)" "" "" "" "" "" "-" "0000026876" "00000024" "00" "103" "0" "103" "0" "c.103C>T" "" "p.(Pro35Ser)" "r.(?)" "" "" "" "" "" "-" "0000026876" "00000025" "00" "103" "0" "103" "0" "c.103C>T" "" "p.(Pro35Ser)" "r.(?)" "" "" "" "" "" "-" "0000026876" "00000026" "00" "103" "0" "103" "0" "c.103C>T" "" "p.(Pro35Ser)" "r.(?)" "" "" "" "" "" "-" "0000026876" "00000027" "00" "103" "0" "103" "0" "c.103C>T" "" "p.(Pro35Ser)" "r.(?)" "" "" "" "" "" "-" "0000026877" "00000025" "00" "72" "0" "72" "0" "c.72C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026877" "00000026" "00" "72" "0" "72" "0" "c.72C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026877" "00000027" "00" "72" "0" "72" "0" "c.72C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026878" "00000024" "00" "-140" "0" "-140" "0" "c.-140C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026878" "00000025" "00" "-140" "0" "-140" "0" "c.-140C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026878" "00000026" "00" "-140" "0" "-140" "0" "c.-140C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026878" "00000027" "00" "-140" "0" "-140" "0" "c.-140C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026879" "00000024" "00" "-165" "0" "-165" "0" "c.-165G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026879" "00000025" "00" "-165" "0" "-165" "0" "c.-165G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026879" "00000026" "00" "-165" "0" "-165" "0" "c.-165G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026879" "00000027" "00" "-165" "0" "-165" "0" "c.-165G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026880" "00000024" "00" "-185" "0" "-185" "0" "c.-185G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026880" "00000025" "00" "-185" "0" "-185" "0" "c.-185G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026880" "00000026" "00" "-185" "0" "-185" "0" "c.-185G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026880" "00000027" "00" "-185" "0" "-185" "0" "c.-185G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0