### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACADVL) # 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}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{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}}" "ACADVL" "acyl-CoA dehydrogenase very long chain" "17" "p13.1" "unknown" "NC_000017.10" "UD_144439264715" "" "" "" "1" "92" "37" "609575" "0" "0" "0" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00006" "2022-01-15 00:00:00" "00006" "2023-01-22 15:54:59" "00006" "2023-07-01 12:32:33" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00000137" "ACADVL" "acyl-CoA dehydrogenase, very long chain, transcript variant 1" "004" "NM_000018.3" "" "NP_000009.1" "" "" "" "-154" "2138" "1968" "7123150" "7128586" "00006" "2022-01-15 15:33:28" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00011" "VLCADD" "very long chain acyl-CoA dehydrogenase deficiency" "" "609575" "heart muscle" "" "" "00006" "2022-01-15 15:30:57" "" "" "00019" "WD" "wilson disease" "AR" "277900" "brain" "liver dysfunction, neurological features (like tremor, parkinsonism, dystornia, etc.), Kayser-Fleischer rings, chondrocalcinosis and osteoarthritis..." "low ceruloplasmin, Kayser-Fleischer rings, abnormalities of the basal ganglia..." "00009" "2023-08-21 15:46:32" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ACADVL" "00011" "ACADVL" "00019" ## 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 ## ## Note: Only showing Phenotype columns active for Diseases 00011, 00019 ## 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 = 94 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Type}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/classclinical}}" "0000016296" "0" "77" "17" "7123443" "7123443" "subst" "" "00006" "ACADVL_000001" "g.7123443C>A" "5/187" "" "Substitution" "" "" "0000016297" "0" "77" "17" "7123481" "7123490" "del" "" "00006" "ACADVL_000002" "g.7123481_7123490del" "2/187" "" "Deletion" "" "" "0000016298" "0" "55" "17" "7123506" "7123506" "subst" "" "00006" "ACADVL_000003" "g.7123506G>A" "1/187" "" "Substitution" "" "" "0000016299" "0" "55" "17" "7123933" "7123933" "subst" "" "00006" "ACADVL_000004" "g.7123933C>T" "2/187" "" "Substitution" "" "" "0000016301" "0" "77" "17" "7124105" "7124105" "subst" "" "00006" "ACADVL_000009" "g.7124105C>T" "2/187" "" "Substitution" "" "" "0000016302" "0" "55" "17" "7124288" "7124290" "del" "" "00006" "ACADVL_000011" "g.7124288_7124290del" "3/187" "" "Deletion" "" "" "0000016303" "0" "55" "17" "7124899" "7124899" "subst" "" "00006" "ACADVL_000013" "g.7124899G>A" "1/187" "" "Substitution" "" "" "0000016304" "0" "55" "17" "7124920" "7124920" "subst" "" "00006" "ACADVL_000014" "g.7124920C>T" "1/187" "" "Substitution" "" "" "0000016305" "0" "77" "17" "7124932" "7124932" "subst" "" "00006" "ACADVL_000015" "g.7124932G>A" "6/187" "" "Substitution" "" "" "0000016306" "0" "55" "17" "7124941" "7124941" "subst" "" "00006" "ACADVL_000016" "g.7124941G>A" "2/187" "" "Substitution" "" "" "0000016307" "0" "55" "17" "7124942" "7124942" "subst" "" "00006" "ACADVL_000017" "g.7124942G>A" "2/187" "" "Substitution" "" "" "0000016308" "0" "77" "17" "7125005" "7125005" "subst" "" "00006" "ACADVL_000018" "g.7125005A>G" "1/187" "" "Substitution" "" "" "0000016309" "0" "55" "17" "7125285" "7125285" "subst" "" "00006" "ACADVL_000019" "g.7125285G>A" "2/187" "" "Substitution" "" "" "0000016310" "0" "77" "17" "7125290" "7125291" "del" "" "00006" "ACADVL_000020" "g.7125290_7125291del" "2/187" "" "Deletion" "" "" "0000016311" "0" "55" "17" "7125291" "7125291" "subst" "" "00006" "ACADVL_000022" "g.7125291T>C" "1/187" "" "Substitution" "" "" "0000016312" "0" "99" "17" "7125312" "7125312" "subst" "" "00006" "ACADVL_000023" "g.7125312G>A" "4/187" "" "Substitution" "" "" "0000016313" "0" "55" "17" "7125381" "7125381" "subst" "" "00006" "ACADVL_000028" "g.7125381G>A" "1/187" "" "Substitution" "" "" "0000016314" "0" "55" "17" "7125576" "7125578" "del" "" "00006" "ACADVL_000029" "g.7125576_7125578del" "2/187" "" "Deletion" "" "" "0000016315" "0" "55" "17" "7125591" "7125591" "subst" "" "00006" "ACADVL_000031" "g.7125591T>C" "1/187" "" "Substitution" "" "" "0000016316" "0" "55" "17" "7125606" "7125606" "subst" "" "00006" "ACADVL_000032" "g.7125606T>G" "1/187" "" "Substitution" "" "" "0000016317" "0" "77" "17" "7125622" "7125622" "subst" "" "00006" "ACADVL_000033" "g.7125622G>C" "1/187" "" "Substitution" "" "" "0000016318" "0" "77" "17" "7125994" "7125995" "del" "" "00006" "ACADVL_000035" "g.7125994_7125995del" "4/187" "" "Deletion" "" "" "0000016319" "0" "55" "17" "7126002" "7126002" "subst" "" "00006" "ACADVL_000036" "g.7126002A>G" "3/187" "" "Substitution" "" "" "0000016320" "0" "55" "17" "7126003" "7126005" "del" "" "00006" "ACADVL_000037" "g.7126003_7126005del" "1/187" "" "Deletion" "" "" "0000016321" "0" "55" "17" "7126003" "7126003" "subst" "" "00006" "ACADVL_000038" "g.7126003A>T" "2/187" "" "Substitution" "" "" "0000016322" "0" "77" "17" "7126027" "7126028" "del" "" "00006" "ACADVL_000039" "g.7126027_7126028del" "2/187" "" "Deletion" "" "" "0000016323" "0" "55" "17" "7126027" "7126027" "subst" "" "00006" "ACADVL_000040" "g.7126027C>T" "2/187" "" "Substitution" "" "" "0000016324" "0" "55" "17" "7126161" "7126161" "subst" "" "00006" "ACADVL_000044" "g.7126161A>C" "1/187" "" "Substitution" "" "" "0000016325" "0" "55" "17" "7126161" "7126161" "subst" "" "00006" "ACADVL_000045" "g.7126161A>G" "1/187" "" "Substitution" "" "" "0000016326" "0" "55" "17" "7126162" "7126162" "subst" "" "00006" "ACADVL_000046" "g.7126162T>C" "1/187" "" "Substitution" "" "" "0000016327" "0" "77" "17" "7126163" "7126164" "del" "" "00006" "ACADVL_000047" "g.7126163_7126164del" "1/187" "" "Deletion" "" "" "0000016328" "0" "55" "17" "7126164" "7126164" "subst" "" "00006" "ACADVL_000048" "g.7126164A>G" "2/187" "" "Substitution" "" "" "0000016329" "0" "55" "17" "7126190" "7126190" "subst" "" "00006" "ACADVL_000050" "g.7126190T>A" "3/187" "" "Substitution" "" "" "0000016330" "0" "77" "17" "7126476" "7126476" "subst" "" "00006" "ACADVL_000051" "g.7126476C>T" "2/187" "" "Substitution" "" "" "0000016331" "0" "55" "17" "7126527" "7126527" "subst" "" "00006" "ACADVL_000053" "g.7126527C>T" "1/187" "" "Substitution" "" "" "0000016332" "0" "55" "17" "7127018" "7127018" "subst" "" "00006" "ACADVL_000056" "g.7127018T>C" "1/187" "" "Substitution" "" "" "0000016333" "0" "55" "17" "7127135" "7127135" "subst" "" "00006" "ACADVL_000059" "g.7127135G>A" "2/187" "" "Substitution" "" "" "0000016334" "0" "55" "17" "7127138" "7127138" "subst" "" "00006" "ACADVL_000060" "g.7127138G>A" "3/187" "" "Substitution" "" "" "0000016335" "0" "77" "17" "7127142" "7127142" "subst" "" "00006" "ACADVL_000061" "g.7127142G>A" "7/187" "" "Substitution" "" "" "0000016336" "0" "55" "17" "7127172" "7127172" "subst" "" "00006" "ACADVL_000063" "g.7127172T>C" "2/187" "" "Substitution" "" "" "0000016337" "0" "55" "17" "7127175" "7127175" "subst" "" "00006" "ACADVL_000064" "g.7127175G>A" "2/187" "" "Substitution" "" "" "0000016338" "0" "77" "17" "7127177" "7127177" "del" "" "00006" "ACADVL_000065" "g.7127177delGinsAC" "1/187" "" "Insertion/Deletion" "" "" "0000016339" "0" "55" "17" "7127190" "7127190" "subst" "" "00006" "ACADVL_000066" "g.7127190T>C" "2/187" "" "Substitution" "" "" "0000016340" "0" "55" "17" "7127299" "7127299" "subst" "" "00006" "ACADVL_000068" "g.7127299G>C" "3/187" "" "Substitution" "" "" "0000016341" "0" "99" "17" "7127303" "7127303" "subst" "" "00006" "ACADVL_000069" "g.7127303G>A" "24/187" "" "Substitution" "" "" "0000016342" "0" "77" "17" "7127311" "7127311" "subst" "" "00006" "ACADVL_000070" "g.7127311C>T" "1/187" "" "Substitution" "" "" "0000016343" "0" "55" "17" "7127312" "7127312" "subst" "" "00006" "ACADVL_000071" "g.7127312G>A" "1/187" "" "Substitution" "" "" "0000016344" "0" "55" "17" "7127320" "7127320" "subst" "" "00006" "ACADVL_000073" "g.7127320C>T" "1/187" "" "Substitution" "" "" "0000016345" "0" "55" "17" "7127321" "7127321" "subst" "" "00006" "ACADVL_000074" "g.7127321G>A" "1/187" "" "Substitution" "" "" "0000016346" "0" "55" "17" "7127330" "7127330" "subst" "" "00006" "ACADVL_000075" "g.7127330G>A" "1/187" "" "Substitution" "" "" "0000016347" "0" "55" "17" "7127341" "7127341" "subst" "" "00006" "ACADVL_000076" "g.7127341G>A" "1/187" "" "Substitution" "" "" "0000016348" "0" "55" "17" "7127350" "7127350" "subst" "" "00006" "ACADVL_000077" "g.7127350G>T" "2/187" "" "Substitution" "" "" "0000016349" "0" "55" "17" "7127359" "7127359" "subst" "" "00006" "ACADVL_000078" "g.7127359C>T" "2/187" "" "Substitution" "" "" "0000016350" "0" "77" "17" "7127390" "7127390" "subst" "" "00006" "ACADVL_000079" "g.7127390T>C" "1/187" "" "Substitution" "" "" "0000016351" "0" "55" "17" "7127388" "7127388" "subst" "" "00006" "ACADVL_000080" "g.7127388G>A" "1/187" "" "Substitution" "" "" "0000016352" "0" "55" "17" "7127535" "7127535" "subst" "" "00006" "ACADVL_000081" "g.7127535T>A" "3/187" "" "Substitution" "" "" "0000016353" "0" "77" "17" "7127562" "7127562" "subst" "" "00006" "ACADVL_000083" "g.7127562G>A" "5/187" "" "Substitution" "" "" "0000016354" "0" "77" "17" "7127693" "7127697" "del" "" "00006" "ACADVL_000084" "g.7127693_7127697del" "1/187" "" "Deletion" "" "" "0000016355" "0" "77" "17" "7127713" "7127713" "subst" "" "00006" "ACADVL_000085" "g.7127713G>T" "2/187" "" "Substitution" "" "" "0000016356" "0" "77" "17" "7127965" "7127966" "del" "" "00006" "ACADVL_000086" "g.7127965_7127966del" "1/187" "" "Deletion" "" "" "0000016357" "0" "55" "17" "7127981" "7127981" "subst" "" "00006" "ACADVL_000087" "g.7127981C>T" "2/187" "" "Substitution" "" "" "0000016358" "0" "55" "17" "7128030" "7128030" "subst" "" "00006" "ACADVL_000088" "g.7128030C>T" "2/187" "" "Substitution" "" "" "0000016359" "0" "55" "17" "7128171" "7128171" "subst" "" "00006" "ACADVL_000089" "g.7128171G>A" "1/187" "" "Substitution" "" "" "0000016360" "0" "55" "17" "7128286" "7128286" "subst" "" "00006" "ACADVL_000091" "g.7128286G>A" "1/187" "" "Substitution" "" "" "0000016361" "0" "55" "17" "7128403" "7128403" "subst" "" "00006" "ACADVL_000093" "g.7128403C>T" "2/187" "" "Substitution" "" "" "0000016551" "0" "77" "17" "7128291" "7128291" "subst" "" "00006" "ACADVL_000092" "g.7128291C>T" "1/187" "" "Substitution" "" "" "0000016552" "0" "55" "17" "7128195" "7128195" "subst" "" "00006" "ACADVL_000090" "g.7128195T>G" "1/187" "" "Substitution" "" "" "0000016553" "0" "77" "17" "7127552" "7127552" "subst" "" "00006" "ACADVL_000082" "g.7127552C>T" "1/187" "" "Substitution" "" "" "0000016554" "0" "55" "17" "7127315" "7127315" "subst" "" "00006" "ACADVL_000072" "g.7127315A>G" "1/187" "" "Substitution" "" "" "0000016555" "0" "77" "17" "7127195" "7127195" "subst" "" "00006" "ACADVL_000067" "g.7127195G>C" "1/187" "" "Substitution" "" "" "0000016556" "0" "55" "17" "7127154" "7127154" "subst" "" "00006" "ACADVL_000062" "g.7127154A>G" "1/187" "" "Substitution" "" "" "0000016557" "0" "55" "17" "7127027" "7127027" "subst" "" "00006" "ACADVL_000058" "g.7127027C>T" "1/187" "" "Substitution" "" "" "0000016558" "0" "55" "17" "7127026" "7127026" "subst" "" "00006" "ACADVL_000057" "g.7127026G>A" "1/187" "" "Substitution" "" "" "0000016559" "0" "55" "17" "7127008" "7127008" "subst" "" "00006" "ACADVL_000055" "g.7127008G>T" "1/187" "" "Substitution" "" "" "0000016560" "0" "55" "17" "7127006" "7127006" "subst" "" "00006" "ACADVL_000054" "g.7127006C>T" "2/187" "" "Substitution" "" "" "0000016561" "0" "55" "17" "7126515" "7126517" "del" "" "00006" "ACADVL_000052" "g.7126515_7126517delGAG" "1/187" "" "Deletion" "" "" "0000016562" "0" "55" "17" "7126184" "7126184" "subst" "" "00006" "ACADVL_000049" "g.7126184G>A" "1/187" "" "Substitution" "" "" "0000016563" "0" "55" "17" "7126137" "7126137" "subst" "" "00006" "ACADVL_000043" "g.7126137A>G" "1/187" "" "Substitution" "" "" "0000016564" "0" "77" "17" "7126103" "7126103" "dup" "" "00006" "ACADVL_000042" "g.7126103dup" "1/187" "" "Duplication" "" "" "0000016565" "0" "77" "17" "7126067" "7126067" "del" "" "00006" "ACADVL_000041" "g.7126067delG" "1/187" "" "Deletion" "" "" "0000016566" "0" "55" "17" "7125655" "7125655" "subst" "" "00006" "ACADVL_000034" "g.7125655G>A" "1/187" "" "Substitution" "" "" "0000016567" "0" "55" "17" "7125581" "7125581" "subst" "" "00006" "ACADVL_000030" "g.7125581A>G" "1/187" "" "Substitution" "" "" "0000016568" "0" "77" "17" "7125378" "7125379" "del" "" "00006" "ACADVL_000027" "g.7125378_7125379del" "1/187" "" "Deletion" "" "" "0000016569" "0" "55" "17" "7125342" "7125342" "subst" "" "00006" "ACADVL_000026" "g.7125342G>A" "1/187" "" "Substitution" "" "" "0000016570" "0" "77" "17" "7125340" "7125341" "del" "" "00006" "ACADVL_000025" "g.7125340_7125341del" "1/187" "" "Deletion" "" "" "0000016571" "0" "99" "17" "7125312" "7125312" "subst" "" "00006" "ACADVL_000024" "g.7125312G>C" "8/187" "" "Substitution" "" "" "0000016572" "0" "77" "17" "7125292" "7125295" "del" "" "00006" "ACADVL_000021" "g.7125292_7125295delGTCT" "1/187" "" "Deletion" "" "" "0000016573" "0" "77" "17" "7124867" "7124867" "subst" "" "00006" "ACADVL_000012" "g.7124867T>A" "1/187" "" "Substitution" "" "" "0000016574" "0" "77" "17" "7124150" "7124150" "subst" "" "00006" "ACADVL_000010" "g.7124150G>A" "1/187" "" "Substitution" "" "" "0000016575" "0" "77" "17" "7124105" "7124106" "del" "" "00006" "ACADVL_000008" "g.7124105_7124106del" "4/187" "" "Deletion" "" "" "0000016576" "0" "77" "17" "7124105" "7124106" "del" "" "00006" "ACADVL_000008" "g.7124105_7124106del" "4/187" "" "Deletion" "" "" "0000016577" "0" "77" "17" "7124093" "7124096" "del" "" "00006" "ACADVL_000007" "g.7124093_7124096del" "1/187" "" "Deletion" "" "" "0000016578" "0" "77" "17" "123977" "7123990" "del" "" "00006" "ACADVL_000006" "g.123977_7123990delinsT" "1/187" "" "Insertion/Deletion" "" "" "0000016579" "0" "77" "17" "7123965" "7123978" "del" "" "00006" "ACADVL_000005" "g.7123965_7123978del" "1/187" "" "Deletion" "" "" ## 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. ## Note: Only showing Variants_On_Transcript columns active for Genes ACADVL ## Count = 94 "{{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}}" "0000016296" "00000137" "77" "65" "0" "65" "0" "c.65C>A" "2" "Ser22*" "r.0?" "0000016297" "00000137" "77" "103" "0" "112" "0" "c.103_112del" "2" "Pro35Glyfs*23" "r.0?" "0000016298" "00000137" "55" "128" "0" "128" "0" "c.128G>A" "2" "Gly43Asp" "r.0?" "0000016299" "00000137" "55" "215" "0" "215" "0" "c.215C>T" "4" "Ser72Phe" "r.0?" "0000016301" "00000137" "77" "298" "0" "298" "0" "c.298C>T" "5" "Gln100*" "r.0?" "0000016302" "00000137" "55" "388" "0" "390" "0" "c.388_390del" "6" "Glu130del" "r.0?" "0000016303" "00000137" "55" "520" "0" "520" "0" "c.520G>A" "7" "Val174Met" "r.0?" "0000016304" "00000137" "55" "541" "0" "541" "0" "c.541C>T" "7" "His181Tyr" "r.0?" "0000016305" "00000137" "77" "553" "0" "553" "0" "c.553G>A" "7" "Gly185Ser" "r.0?" "0000016306" "00000137" "55" "562" "0" "562" "0" "c.562G>A" "7" "Gly188Ser" "r.0?" "0000016307" "00000137" "55" "563" "0" "563" "0" "c.563G>A" "7" "Gly188Asp" "r.0?" "0000016308" "00000137" "77" "622" "4" "622" "4" "c.622+4A>G" "7i" "-" "r.0?" "0000016309" "00000137" "55" "637" "0" "637" "0" "c.637G>A" "8" "Ala213Thr" "r.0?" "0000016310" "00000137" "77" "642" "0" "643" "0" "c.642_643del" "8" "Phe214Leufs*38" "r.0?" "0000016311" "00000137" "55" "643" "0" "643" "0" "c.643T>C" "8" "Cys215Arg" "r.0?" "0000016312" "00000137" "99" "664" "0" "664" "0" "c.664G>A" "8" "Gly222Arg" "r.0?" "0000016313" "00000137" "55" "733" "0" "733" "0" "c.733G>A" "8" "Gly245Arg" "r.0?" "0000016314" "00000137" "55" "833" "0" "835" "0" "c.833_835del" "9" "Lys278del" "r.0?" "0000016315" "00000137" "55" "848" "0" "848" "0" "c.848T>C" "9" "Val283Ala" "r.0?" "0000016316" "00000137" "55" "863" "0" "863" "0" "c.863T>G" "9" "Phe288Cys" "r.0?" "0000016317" "00000137" "77" "878" "1" "878" "1" "c.878+1G>C" "9i" "-" "r.0?" "0000016318" "00000137" "77" "887" "0" "888" "0" "c.887_888delCT" "10" "Pro296Argfs*17" "r.0?" "0000016319" "00000137" "55" "895" "0" "895" "0" "c.895A>G" "10" "Lys299Glu" "r.0?" "0000016320" "00000137" "55" "896" "0" "898" "0" "c.896_898del" "10" "Lys299del" "r.0?" "0000016321" "00000137" "55" "896" "0" "896" "0" "c.896A>T" "10" "Lys299Met" "r.0?" "0000016322" "00000137" "77" "920" "0" "921" "0" "c.920_921del" "10" "Thr307Serfs*6" "r.0?" "0000016323" "00000137" "55" "920" "0" "920" "0" "c.920C>T" "10" "Thr307Ile" "r.0?" "0000016324" "00000137" "55" "1054" "0" "1054" "0" "c.1054A>C" "10" "Met352Leu" "r.0?" "0000016325" "00000137" "55" "1054" "0" "1054" "0" "c.1054A>G" "10" "Met352Val" "r.0？" "0000016326" "00000137" "55" "1055" "0" "1055" "0" "c.1055T>C" "10" "Met352Thr" "r.0?" "0000016327" "00000137" "77" "1056" "0" "1057" "0" "c.1056_1057del" "10" "Gly354Hisfs*4" "r.0?" "0000016328" "00000137" "55" "1057" "0" "1057" "0" "c.1057A>G" "10" "Arg353Gly" "r.0?" "0000016329" "00000137" "55" "1077" "6" "1077" "6" "c.1077+6T>A" "10i" "-" "r.0?" "0000016330" "00000137" "77" "1102" "0" "1102" "0" "c.1102C>T" "11" "Gln368*" "r.0?" "0000016331" "00000137" "55" "1153" "0" "1153" "0" "c.1153C>T" "11" "Arg385Trp" "r.0?" "0000016332" "00000137" "55" "1238" "0" "1238" "0" "c.1238T>C" "12" "Ile413Thr" "r.0?" "0000016333" "00000137" "55" "1273" "0" "1273" "0" "c.1273G>A" "13" "Ala425Thr" "r.0?" "0000016334" "00000137" "55" "1276" "0" "1276" "0" "c.1276G>A" "13" "Ala426Thr" "r.0?" "0000016335" "00000137" "77" "1280" "0" "1280" "0" "c.1280G>A" "13" "Trp427*" "r.0?" "0000016336" "00000137" "55" "1310" "0" "1310" "0" "c.1310T>C" "13" "Met437Thr" "r.0?" "0000016337" "00000137" "55" "1313" "0" "1313" "0" "c.1313G>A" "13" "Gly438Glu" "r.0?" "0000016338" "00000137" "77" "1315" "0" "1315" "0" "c.1315delGinsAC" "13" "-" "r.0?" "0000016339" "00000137" "55" "1328" "0" "1328" "0" "c.1328T>C" "13" "Met443Thr" "r.0?" "0000016340" "00000137" "55" "1345" "0" "1345" "0" "c.1345G>C" "14" "Glu449Gln" "r.0?" "0000016341" "00000137" "99" "1349" "0" "1349" "0" "c.1349G>A" "14" "Arg450His" "r.0?" "0000016342" "00000137" "77" "1357" "0" "1357" "0" "c.1357C>T" "14" "Arg453*" "r.0?" "0000016343" "00000137" "55" "1358" "0" "1358" "0" "c.1358G>A" "14" "Arg453Gln" "r.0?" "0000016344" "00000137" "55" "1366" "0" "1366" "0" "c.1366C>T" "14" "Arg456Cys" "r.0?" "0000016345" "00000137" "55" "1367" "0" "1367" "0" "c.1367G>A" "14" "Arg456His" "r.0?" "0000016346" "00000137" "55" "1376" "0" "1376" "0" "c.1376G>A" "14" "Arg459Gln" "r.0?" "0000016347" "00000137" "55" "1387" "0" "1387" "0" "c.1387G>A" "14" "Gly463Arg" "r.0?" "0000016348" "00000137" "55" "1396" "0" "1396" "0" "c.1396G>T" "14" "Asp466Tyr" "r.0?" "0000016349" "00000137" "55" "1405" "0" "1405" "0" "c.1405C>T" "14" "Arg469Trp" "r.0?" "0000016350" "00000137" "77" "1434" "2" "1434" "2" "c.1434+2T>C" "14i" "-" "r.0？" "0000016351" "00000137" "55" "1434" "0" "1434" "0" "c.1434G>A" "14" "Met478Ile" "r.0?" "0000016352" "00000137" "55" "1505" "0" "1505" "0" "c.1505T>A" "15" "Leu502Gln" "r.0?" "0000016353" "00000137" "77" "1532" "0" "1532" "0" "c.1532G>A" "15" "Arg511Gln" "r.0?" "0000016354" "00000137" "77" "1586" "0" "1590" "0" "c.1586_1590del" "16" "Leu529Serfs*31" "r.0?" "0000016355" "00000137" "77" "1605" "1" "1605" "1" "c.1605+1G>T" "16i" "-" "r.0?" "0000016356" "00000137" "77" "1683" "0" "1684" "0" "c.1683_1684del" "18" "Gln562Valfs*29" "r.0?" "0000016357" "00000137" "55" "1699" "0" "1699" "0" "c.1699C>T" "18" "Arg567Trp" "r.0?" "0000016358" "00000137" "55" "1748" "0" "1748" "0" "c.1748C>T" "18" "Ser583Leu" "r.0?" "0000016359" "00000137" "55" "1795" "0" "1795" "0" "c.1795G>A" "19" "Glu599Lys" "r.0?" "0000016360" "00000137" "55" "1838" "0" "1838" "0" "c.1838G>A" "20" "Arg613Gln" "r.0?" "0000016361" "00000137" "55" "1955" "0" "1955" "0" "c.1955C>T" "20" "Pro652Leu" "r.0?" "0000016551" "00000137" "77" "1843" "0" "1843" "0" "c.1843C>T" "20" "p.(Arg615*)" "r.(?)" "0000016552" "00000137" "55" "1819" "0" "1819" "0" "c.1819T>G" "19" "p.(Cys607Gly)" "r.(?)" "0000016553" "00000137" "77" "1522" "0" "1522" "0" "c.1522C>T" "15" "p.(Gln508*)" "r.(?)" "0000016554" "00000137" "55" "1361" "0" "1361" "0" "c.1361A>G" "14" "p.(Asp454Gly)" "r.(?)" "0000016555" "00000137" "77" "1332" "1" "1332" "1" "c.1332+1G>C" "13i" "p.?" "r.spl?" "0000016556" "00000137" "55" "1292" "0" "1292" "0" "c.1292A>G" "13" "Asp431Gly" "r.0?" "0000016557" "00000137" "55" "1247" "0" "1247" "0" "c.1247C>T" "12" "Ala416Val" "r.0?" "0000016558" "00000137" "55" "1246" "0" "1246" "0" "c.1246G>A" "12" "Ala416Thr" "r.0?" "0000016559" "00000137" "55" "1228" "0" "1228" "0" "c.1228G>T" "12" "p.(Asp410Tyr)" "r.(?)" "0000016560" "00000137" "55" "1226" "0" "1226" "0" "c.1226C>T" "12" "Thr409Met" "r.0?" "0000016561" "00000137" "55" "1141" "0" "1143" "0" "c.1141_1143delGAG" "11" "Glu381del" "r.0?" "0000016562" "00000137" "55" "1077" "0" "1077" "0" "c.1077G>A" "10" "=" "r.0?" "0000016563" "00000137" "55" "1030" "0" "1030" "0" "c.1030A>G" "10" "p.(Met344Val)" "r.(?)" "0000016564" "00000137" "77" "996" "0" "996" "0" "c.996dup" "10" "p.(Ala333Cysfs*26)" "r.(?)" "0000016565" "00000137" "77" "960" "0" "960" "0" "c.960delG" "10" "p.(Asn321Thrfs*32)" "r.(?)" "0000016566" "00000137" "55" "878" "34" "878" "34" "c.878+34G>A" "9i" "p.(=)" "r.(=)" "0000016567" "00000137" "55" "838" "0" "838" "0" "c.838A>G" "9" "p.(Thr280Ala)" "r.(?)" "0000016568" "00000137" "77" "730" "0" "731" "0" "c.730_731del" "8" "p.(Asn244Trpfs*8)" "r.(?)" "0000016569" "00000137" "55" "694" "0" "694" "0" "c.694G>A" "8" "p.(Ala232Thr)" "r.(?)" "0000016570" "00000137" "77" "692" "0" "693" "0" "c.692_693del" "8" "p.(Ser231Cysfs*21)" "r.(?)" "0000016571" "00000137" "99" "664" "0" "664" "0" "c.664G>C" "8" "p.(Gly222Arg)" "r.(?)" "0000016572" "00000137" "77" "644" "0" "647" "0" "c.644_647delGTCT" "8" "Cys215*" "r.0?" "0000016573" "00000137" "77" "488" "0" "488" "0" "c.488T>A" "7" "p.(Leu163*)" "r.(?)" "0000016574" "00000137" "77" "342" "1" "342" "1" "c.342+1G>A" "5i" "p.?" "r.0?" "0000016575" "00000137" "77" "298" "0" "299" "0" "c.298_299del" "5" "p.(Gln100Valfs*3)" "r.(?)" "0000016576" "00000137" "77" "298" "0" "299" "0" "c.298_299del" "5" "p.(Gln100Valfs*3)" "r.(?)" "0000016577" "00000137" "77" "286" "0" "289" "0" "c.286_289del" "5" "p.(Glu96Serfs*20)" "r.(?)" "0000016578" "00000137" "77" "259" "0" "272" "0" "c.259_272delGTGTTCCCATACCCinsT" "4" "p.(Val87Cysfs*26)" "r.(?)" "0000016579" "00000137" "77" "247" "0" "260" "0" "c.247_260del" "5" "p.(Thr83Valfs*16)" "r.(?)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0