### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACTN3) # 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}}" "ACTN3" "actinin, alpha 3 (gene/pseudogene)" "11" "q13-q14" "unknown" "NG_013304.2" "NG_013304.2" "" "http://www.LOVD.nl/ACTN3" "" "1" "165" "89" "102574" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/ACTN3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2014-12-13 10:34:02" "00006" "2025-01-31 19:36:59" ## 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}}" "00023990" "ACTN3" "actinin, alpha 3, transcript variant 1, coding" "001" "NM_001104.3" "" "NP_001095.2" "" "" "" "-97" "2842" "2706" "4922" "21410" "00001" "2014-12-11 10:22:33" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04158" "-" "alpha-actinin-3 deficiency" "AR" "102574" "" "" "" "00006" "2014-12-13 11:02:38" "00006" "2021-12-10 21:51:32" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05320" "BMD" "dystrophy, muscular, Becker type (BMD)" "XLR" "300376" "" "" "" "00006" "2017-09-01 12:37:01" "00006" "2021-12-10 21:51:32" "05324" "DMD" "dystrophy, muscular, Duchenne type (DMD)" "XLR" "310200" "" "" "" "00006" "2017-09-01 17:41:21" "00006" "2021-12-10 21:51:32" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "05927" "SPOAN" "paraplegia, spastic, optic atrophy, and neuropathy (SPOAN)" "AR" "609541" "" "" "" "00006" "2021-05-04 08:53:59" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ACTN3" "04158" ## Individuals ## Do not remove or alter this header ## ## Count = 80 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00025500" "" "" "" "5" "" "00006" "{PMID:North 1999:10192379}" "3-generation family, 5 homozygous individuals" "-" "" "Australia" "" "0" "" "" "" "" "00025501" "" "" "" "48" "" "00006" "{PMID:North 1999:10192379}" "125 individuals with DNA and muscle biopsy" "-" "" "Australia" "" "0" "" "" "" "" "00025502" "" "" "" "53" "" "00006" "{PMID:North 1999:10192379}" "" "-" "" "Australia" "" "0" "" "" "" "" "00025503" "" "" "" "87" "" "00006" "{PMID:Suminaga 2000:10797427}" "" "M" "" "Japan" "" "0" "" "" "" "" "00025504" "" "" "" "32" "" "00006" "{PMID:Suminaga 2000:10797427}" "" "M" "" "Japan" "" "0" "" "" "" "" "00025505" "" "" "" "30" "" "00006" "{PMID:Suminaga 2000:10797427}" "30 healthy controls" "-" "" "Japan" "" "0" "" "" "" "" "00025506" "" "" "" "436" "" "00006" "{PMID:Yang 2003:12879365}" "" "" "" "Australia" "" "0" "" "" "" "" "00025507" "" "" "" "107" "" "00006" "{PMID:Yang 2003:12879365}" "" "" "" "Australia" "" "0" "" "" "" "" "00025508" "" "" "" "194" "" "00006" "{PMID:Yang 2003:12879365}" "" "" "" "Australia" "" "0" "" "" "" "" "00025509" "" "" "" "120" "" "00006" "{PMID:Niemi 2005:15886711}" "" "" "" "Finland" "" "0" "" "" "" "" "00025510" "" "" "" "68" "" "00006" "{PMID:Niemi 2005:15886711}" "" "" "" "Finland" "" "0" "" "" "" "" "00025511" "" "" "" "40" "" "00006" "{PMID:Niemi 2005:15886711}" "" "" "" "Finland" "" "0" "" "" "" "" "00025512" "" "" "" "507" "" "00006" "{PMID:Moran 2007:17033684}" "" "" "" "Greece" "" "0" "" "" "" "" "00119104" "" "" "" "1" "" "00454" "{PMID:Luce 2018:30342905} {PMID:Luce 2021:34149409}" "" "M" "?" "Argentina" "" "0" "" "" "" "#435" "00141301" "" "" "" "1" "" "00454" "" "" "M" "" "Argentina" "" "0" "" "" "" "#171" "00141315" "" "" "" "1" "" "00454" "" "" "M" "" "Argentina" "" "0" "" "" "" "#430" "00144681" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#125" "00144684" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#64LP" "00266430" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "" "" "" "" "#626" "00266435" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "no" "Argentina" "" "" "" "" "" "#378" "00274472" "" "" "" "1" "" "00454" "{PMID:Luce 2016:27206868}, {DOI:Luce 2016:10.1016/j.jns.2016.03.047} {PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#153" "00274480" "" "" "" "1" "" "00454" "{PMID:Luce 2016:27206868}, {DOI:Luce 2016:10.1016/j.jns.2016.03.047} {PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#186" "00274498" "" "" "" "1" "" "00454" "{PMID:Luce 2016:27206868}, {DOI:Luce 2016:10.1016/j.jns.2016.03.047} {PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#67" "00274505" "" "" "" "1" "" "00454" "{PMID:Luce 2016:27206868}, {DOI:Luce 2016:10.1016/j.jns.2016.03.047}" "" "M" "" "Argentina" "" "0" "" "" "" "#616" "00362954" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#853" "00362968" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#273" "00362976" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#294" "00363002" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "del-dup" "M" "" "Argentina" "" "0" "" "" "" "#477" "00363006" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#507" "00363046" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#676" "00363061" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#644" "00363104" "" "" "" "1" "" "00454" "{PMID:Luce 2021:34149409}" "" "M" "" "Argentina" "" "0" "" "" "" "#800" "00371664" "" "" "" "73" "" "00006" "{PMID:Melo 2015:26385635}" "73 patients" "F;M" "" "Brazil" "" "0" "" "" "" "patients" "00462133" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#874" "00462134" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#69LP" "00462135" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#832" "00462136" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#52LP" "00462137" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#94" "00462138" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#554" "00462139" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#263" "00462140" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#184LP" "00462141" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#879" "00462142" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#137" "00462143" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#229LP" "00462144" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#658" "00462145" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#864" "00462146" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#15LP" "00462147" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#915" "00462148" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#431" "00462149" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#467" "00462150" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#195LP" "00462151" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#564" "00462152" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#47LP" "00462153" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#169LP" "00462154" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#238LP" "00462155" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#68LP" "00462156" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#677" "00462157" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#747" "00462158" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#432" "00462159" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#34LP" "00462160" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#545" "00462161" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#66LP" "00462162" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#516" "00462163" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#823" "00462164" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#72LP" "00462165" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#212LP" "00462166" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#81LP" "00462167" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#182LP" "00462168" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#912" "00462169" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#888" "00462170" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#39LP" "00462171" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#228" "00462172" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#132" "00462173" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#420" "00462174" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#283" "00462175" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "" "" "#184" "00462176" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#48LP" "00462177" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#584" "00462178" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#523" "00462179" "" "" "" "1" "" "00454" "{PMID:Luce 2024:39674052}" "" "M" "" "Argentina" "" "0" "" "glucocorteroid treatment" "" "#13LP" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 80 "{{individualid}}" "{{diseaseid}}" "00025500" "04158" "00025501" "04158" "00025502" "00198" "00025503" "05324" "00025504" "05320" "00025505" "00000" "00025506" "00000" "00025507" "00198" "00025508" "00198" "00025509" "00000" "00025510" "00198" "00025511" "00198" "00025512" "00198" "00119104" "05324" "00141301" "05324" "00141315" "05324" "00144681" "05324" "00144684" "05324" "00266430" "05324" "00266435" "05324" "00274472" "05378" "00274480" "05378" "00274498" "05378" "00274505" "05378" "00362954" "05121" "00362968" "05121" "00362976" "05121" "00363002" "05121" "00363006" "05121" "00363046" "05121" "00363061" "05121" "00363104" "05121" "00371664" "05927" "00462133" "05378" "00462134" "05378" "00462135" "05378" "00462136" "05378" "00462137" "05378" "00462138" "05378" "00462139" "05378" "00462140" "05378" "00462141" "05378" "00462142" "05378" "00462143" "05378" "00462144" "05378" "00462145" "05378" "00462146" "05378" "00462147" "05378" "00462148" "05378" "00462149" "05378" "00462150" "05378" "00462151" "05378" "00462152" "05378" "00462153" "05378" "00462154" "05378" "00462155" "05378" "00462156" "05378" "00462157" "05378" "00462158" "05378" "00462159" "05378" "00462160" "05378" "00462161" "05378" "00462162" "05378" "00462163" "05378" "00462164" "05378" "00462165" "05378" "00462166" "05378" "00462167" "05378" "00462168" "05378" "00462169" "05378" "00462170" "05378" "00462171" "05378" "00462172" "05378" "00462173" "05378" "00462174" "05378" "00462175" "05378" "00462176" "05378" "00462177" "05378" "00462178" "05378" "00462179" "05378" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 04158, 05121, 05320, 05324, 05378, 05927 ## Count = 76 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000021619" "04158" "00025500" "00006" "Familial, autosomal recessive" "" "2/5 individuals with congenital muscular dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000021621" "04158" "00025501" "00006" "Familial, autosomal recessive" "" "ACTN3 staining muscle negative" "" "" "" "" "" "" "" "" "" "" "" "0000021622" "00198" "00025502" "00006" "Familial, autosomal recessive" "" "ACTN3 positive in muscle biopsy" "" "" "" "" "" "" "" "" "" "" "" "0000021625" "00198" "00025507" "00006" "Unknown" "" "athletes, sprint/power" "" "" "" "" "" "" "" "" "" "" "" "0000021626" "00198" "00025508" "00006" "Unknown" "" "athletes, endurance" "" "" "" "" "" "" "" "" "" "" "" "0000021627" "00198" "00025510" "00006" "Unknown" "" "athletes, sprint" "" "" "" "" "" "" "" "" "" "" "" "0000021628" "00198" "00025511" "00006" "Unknown" "" "athletes, endurance" "" "" "" "" "" "" "" "" "" "" "" "0000021629" "00198" "00025512" "00006" "Unknown" "" "40m sprint time, no association with other performance, body composition or aerobic capacity" "" "" "" "" "" "" "" "" "" "" "" "0000094103" "05324" "00119104" "00454" "Familial, X-linked" "18y" "" "2y" "" "" "" "" "" "" "" "" "DMD" "" "0000114049" "05324" "00141301" "00454" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, Duchenne type (DMD)" "" "0000114063" "05324" "00141315" "00454" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, Duchenne type (DMD)" "" "0000117417" "05324" "00144681" "00454" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000117624" "05324" "00144684" "00454" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000132915" "05324" "00025503" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, Duchenne type (DMD)" "" "0000132916" "05320" "00025504" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, Becker type (BMD)" "" "0000204175" "05324" "00266435" "00454" "Familial, X-linked recessive" "14y" "HP:0001252 (lower limbs, onset 6m), HP:0002540" "00y06m" "" "" "" "" "" "" "" "DMD" "DMD" "" "0000209411" "05378" "00274472" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "DMD" "DMD" "" "0000209419" "05378" "00274480" "00454" "Unknown" "" "" "" "" "" "" "" "" "" "" "DMD" "DMD" "" "0000209437" "05378" "00274498" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "?" "BMD" "" "0000209444" "05378" "00274505" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "DMD" "DMD" "" "0000258320" "05121" "00362954" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "" "0000258334" "05121" "00362968" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "" "0000258342" "05121" "00362976" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "" "0000258368" "05121" "00363002" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "" "0000258372" "05121" "00363006" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "" "0000258412" "05121" "00363046" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "" "0000258427" "05121" "00363061" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "" "0000258470" "05121" "00363104" "00454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "DMD/BMD" "" "0000267001" "05927" "00371664" "00006" "Familial, autosomal recessive" "" "progressive spastic paraplegia in infancy, progressive motor and sensory axonal neuropathy in late childhood/early adolescence leading to severe motor disability; >15y-wheelchair bound, progressive joint contractures, spine deformities; subnormal vision secondary to apparently non-progressive congenital optic atrophy, dysarthria starting third decade of life, exacerbated acoustic startle response; no intellectual disability" "" "" "" "" "" "" "" "" "SPOAN" "spastic paraplegia, optic atrophy, neuropathy" "" "0000349633" "05378" "00462133" "00454" "Unknown" "" "9y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349634" "05378" "00462134" "00454" "Unknown" "" "10y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349635" "05378" "00462135" "00454" "Unknown" "" "10y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349636" "05378" "00462136" "00454" "Unknown" "" "11y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349637" "05378" "00462137" "00454" "Unknown" "" "8y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349638" "05378" "00462138" "00454" "Unknown" "" "8y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349639" "05378" "00462139" "00454" "Unknown" "" "8y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349640" "05378" "00462140" "00454" "Unknown" "" "11y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349641" "05378" "00462141" "00454" "Unknown" "" "10y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349642" "05378" "00462142" "00454" "Unknown" "" "10y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349643" "05378" "00462143" "00454" "Unknown" "" "8y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349644" "05378" "00462144" "00454" "Unknown" "" "11y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349645" "05378" "00462145" "00454" "Unknown" "" "8y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349646" "05378" "00462146" "00454" "Unknown" "" "11y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349647" "05378" "00462147" "00454" "Unknown" "" "10y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349648" "05378" "00462148" "00454" "Unknown" "" "9y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349649" "05378" "00462149" "00454" "Unknown" "" "6y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349650" "05378" "00462150" "00454" "Unknown" "" "10y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349651" "05378" "00462151" "00454" "Unknown" "" "6y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349652" "05378" "00462152" "00454" "Unknown" "" "6y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349653" "05378" "00462153" "00454" "Unknown" "" "8y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349654" "05378" "00462154" "00454" "Unknown" "" "10y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349655" "05378" "00462155" "00454" "Unknown" "" "11y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349656" "05378" "00462156" "00454" "Unknown" "" "7y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349657" "05378" "00462157" "00454" "Unknown" "" "10y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349658" "05378" "00462158" "00454" "Unknown" "" "23y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349659" "05378" "00462159" "00454" "Unknown" "" "17y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349660" "05378" "00462160" "00454" "Unknown" "" "19y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349661" "05378" "00462161" "00454" "Unknown" "" "17y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349662" "05378" "00462162" "00454" "Unknown" "" "21y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349663" "05378" "00462163" "00454" "Unknown" "" "16y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349664" "05378" "00462164" "00454" "Unknown" "" "17y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349665" "05378" "00462165" "00454" "Unknown" "" "19y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349666" "05378" "00462166" "00454" "Unknown" "" "20y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349667" "05378" "00462167" "00454" "Unknown" "" "21y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349668" "05378" "00462168" "00454" "Unknown" "" "16y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349669" "05378" "00462169" "00454" "Unknown" "" "16y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349670" "05378" "00462170" "00454" "Unknown" "" "21y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349671" "05378" "00462171" "00454" "Unknown" "" "20y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349672" "05378" "00462172" "00454" "Unknown" "" "15y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349673" "05378" "00462173" "00454" "Unknown" "" "16y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349674" "05378" "00462174" "00454" "Unknown" "" "19y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349675" "05378" "00462175" "00454" "Unknown" "" "18y-loss ambulation" "" "" "" "" "" "" "" "" "" "BMD/DMD" "" "0000349676" "05378" "00462176" "00454" "Unknown" "" "20y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD." "BMD/DMD" "" "0000349677" "05378" "00462177" "00454" "Unknown" "" "21y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349678" "05378" "00462178" "00454" "Unknown" "" "18y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" "0000349679" "05378" "00462179" "00454" "Unknown" "" "17y-loss ambulation; biopsy compatible with DMD" "" "" "" "" "" "" "" "" "DMD" "BMD/DMD" "" ## Screenings ## Do not remove or alter this header ## ## Count = 80 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000025504" "00025500" "1" "00006" "00006" "2014-12-13 10:45:31" "" "" "PCRdig;SEQ" "DNA" "" "" "0000025505" "00025501" "1" "00006" "00006" "2014-12-13 11:08:00" "" "" "PCRdig" "DNA" "" "" "0000025506" "00025502" "1" "00006" "00006" "2014-12-13 11:14:12" "" "" "PCRdig" "DNA" "" "" "0000025507" "00025503" "1" "00006" "00006" "2014-12-13 11:24:14" "" "" "PCRdig" "DNA" "" "" "0000025508" "00025504" "1" "00006" "00006" "2014-12-13 11:30:44" "" "" "PCRdig" "DNA" "" "" "0000025509" "00025505" "1" "00006" "00006" "2014-12-13 11:38:35" "" "" "PCRdig" "DNA" "" "" "0000025510" "00025506" "1" "00006" "00006" "2014-12-13 11:55:22" "" "" "PCR" "DNA" "" "" "0000025511" "00025507" "1" "00006" "00006" "2014-12-13 12:00:42" "" "" "PCR" "DNA" "" "" "0000025512" "00025508" "1" "00006" "00006" "2014-12-13 12:12:33" "" "" "PCR" "DNA" "" "" "0000025513" "00025509" "1" "00006" "00006" "2014-12-13 12:32:03" "" "" "PCRdig" "DNA" "" "" "0000025514" "00025510" "1" "00006" "00006" "2014-12-13 12:54:15" "" "" "PCRdig" "DNA" "" "" "0000025515" "00025511" "1" "00006" "00006" "2014-12-13 12:59:50" "" "" "PCRdig" "DNA" "" "" "0000025516" "00025512" "1" "00006" "00006" "2014-12-13 13:12:47" "" "" "TaqMan" "DNA" "" "" "0000119573" "00119104" "1" "00454" "00454" "2017-09-07 20:20:23" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000142141" "00141301" "1" "00454" "00454" "2007-10-03 17:42:33" "00006" "2013-02-01 19:44:09" "PCRm" "DNA" "" "" "0000142155" "00141315" "1" "00454" "00454" "2007-10-03 17:39:48" "00006" "2019-10-25 14:41:22" "MLPA;PCRm" "DNA" "" "" "0000145538" "00144681" "1" "00454" "00454" "2017-12-21 20:58:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000145541" "00144684" "1" "00454" "00454" "2017-12-21 21:08:35" "" "" "SEQ-NG" "DNA" "blood" "" "0000267557" "00266430" "1" "00454" "00454" "2019-10-25 18:30:35" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000267562" "00266435" "1" "00454" "00454" "2019-10-25 19:43:49" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000275632" "00274472" "1" "00454" "00006" "2020-01-01 11:29:03" "" "" "MLPA" "DNA" "" "" "0000275640" "00274480" "1" "00454" "00006" "2020-01-01 11:29:03" "" "" "MLPA" "DNA" "" "" "0000275658" "00274498" "1" "00454" "00006" "2020-01-01 11:29:03" "" "" "MLPA" "DNA" "" "" "0000275665" "00274505" "1" "00454" "00006" "2020-01-01 11:29:03" "" "" "MLPA" "DNA" "" "" "0000364182" "00362954" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "SEQ-NG-I" "DNA" "BLOOD" "" "0000364196" "00362968" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "MLPA" "DNA" "BLOOD" "" "0000364204" "00362976" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "MLPA" "DNA" "BLOOD" "" "0000364230" "00363002" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "MLPA" "DNA" "BLOOD" "" "0000364234" "00363006" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "MLPA" "DNA" "BLOOD" "" "0000364274" "00363046" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "MLPA; PCR" "DNA" "BLOOD" "" "0000364289" "00363061" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "MLPA" "DNA" "BLOOD" "" "0000364332" "00363104" "1" "00454" "00008" "2021-04-24 06:26:29" "" "" "MLPA" "DNA" "BLOOD" "" "0000372892" "00371664" "1" "00006" "00006" "2021-05-04 09:06:24" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES, WGS" "0000463765" "00462133" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463766" "00462134" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463767" "00462135" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463768" "00462136" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463769" "00462137" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463770" "00462138" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463771" "00462139" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463772" "00462140" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463773" "00462141" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463774" "00462142" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463775" "00462143" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463776" "00462144" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463777" "00462145" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463778" "00462146" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463779" "00462147" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463780" "00462148" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463781" "00462149" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463782" "00462150" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463783" "00462151" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463784" "00462152" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463785" "00462153" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463786" "00462154" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463787" "00462155" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463788" "00462156" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463789" "00462157" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463790" "00462158" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463791" "00462159" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463792" "00462160" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463793" "00462161" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463794" "00462162" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA;SEQ" "DNA" "" "" "0000463795" "00462163" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463796" "00462164" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA;SEQ" "DNA" "" "" "0000463797" "00462165" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463798" "00462166" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463799" "00462167" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463800" "00462168" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463801" "00462169" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA;SEQ" "DNA" "" "" "0000463802" "00462170" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA;SEQ" "DNA" "" "" "0000463803" "00462171" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463804" "00462172" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA;SEQ" "DNA" "" "" "0000463805" "00462173" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463806" "00462174" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463807" "00462175" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463808" "00462176" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463809" "00462177" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463810" "00462178" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" "0000463811" "00462179" "1" "00454" "00006" "2025-01-31 17:23:11" "" "" "MLPA" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 80 "{{screeningid}}" "{{geneid}}" "0000025504" "ACTN3" "0000025505" "ACTN3" "0000025506" "ACTN3" "0000025507" "ACTN3" "0000025508" "ACTN3" "0000025509" "ACTN3" "0000025510" "ACTN3" "0000025511" "ACTN3" "0000025512" "ACTN3" "0000025513" "ACTN3" "0000025514" "ACTN3" "0000025515" "ACTN3" "0000025516" "ACTN3" "0000119573" "DMD" "0000142141" "DMD" "0000142155" "DMD" "0000145538" "DMD" "0000145541" "DMD" "0000267557" "DMD" "0000267562" "DMD" "0000275632" "DMD" "0000275640" "DMD" "0000275658" "DMD" "0000275665" "DMD" "0000364182" "DMD" "0000364196" "DMD" "0000364204" "DMD" "0000364230" "DMD" "0000364234" "DMD" "0000364274" "DMD" "0000364289" "DMD" "0000364332" "DMD" "0000372892" "KLC2" "0000463765" "DMD" "0000463766" "DMD" "0000463767" "DMD" "0000463768" "DMD" "0000463769" "DMD" "0000463770" "DMD" "0000463771" "DMD" "0000463772" "DMD" "0000463773" "DMD" "0000463774" "DMD" "0000463775" "DMD" "0000463776" "DMD" "0000463777" "DMD" "0000463778" "DMD" "0000463779" "DMD" "0000463780" "DMD" "0000463781" "DMD" "0000463782" "DMD" "0000463783" "DMD" "0000463784" "DMD" "0000463785" "DMD" "0000463786" "DMD" "0000463787" "DMD" "0000463788" "DMD" "0000463789" "DMD" "0000463790" "DMD" "0000463791" "DMD" "0000463792" "DMD" "0000463793" "DMD" "0000463794" "DMD" "0000463795" "DMD" "0000463796" "DMD" "0000463797" "DMD" "0000463798" "DMD" "0000463799" "DMD" "0000463800" "DMD" "0000463801" "DMD" "0000463802" "DMD" "0000463803" "DMD" "0000463804" "DMD" "0000463805" "DMD" "0000463806" "DMD" "0000463807" "DMD" "0000463808" "DMD" "0000463809" "DMD" "0000463810" "DMD" "0000463811" "DMD" ## 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 = 136 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000048397" "3" "90" "11" "66328095" "66328095" "subst" "0" "00006" "ACTN3_000001" "g.66328095=" "5/5 individuals" "{PMID:North 1999:10192379}, {OMIM102574:0001}" "DdeI+" "1747C>T" "variant not associated to a phenotype; reports Q523R variant (here wt)\r\n" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "pathogenic" "" "0000048398" "3" "90" "11" "66328095" "66328095" "subst" "0" "00006" "ACTN3_000001" "g.66328095=" "46/48 cases" "{PMID:North 1999:10192379}, {OMIM102574:0001}" "" "" "" "Germline" "yes" "rs1815739" "0" "" "" "g.66560624C>T" "" "pathogenic" "" "0000048399" "1" "90" "11" "66328095" "66328095" "subst" "0" "00006" "ACTN3_000001" "g.66328095=" "53/77 controls" "{PMID:North 1999:10192379}, {OMIM102574:0001}" "" "" "" "Germline" "yes" "rs1815739" "0" "" "" "g.66560624C>T" "" "pathogenic" "" "0000048400" "3" "90" "11" "66328095" "66328095" "subst" "0" "00006" "ACTN3_000001" "g.66328095=" "18/77 cases" "{PMID:Suminaga 2000:10797427}, {OMIM102574:0001}" "DdeI+" "" "no association with DMD phenotype\r\n" "Germline" "" "" "0" "" "" "g.66560624C>T" "" "pathogenic" "" "0000048401" "1" "90" "11" "66328095" "66328095" "subst" "0" "00006" "ACTN3_000001" "g.66328095=" "43/87 cases" "{PMID:Suminaga 2000:10797427}, {OMIM102574:0001}" "DdeI+" "" "no association with DMD phenotype\r\n" "Germline" "" "" "0" "" "" "g.66560624C>T" "" "pathogenic" "" "0000048402" "3" "90" "11" "66328095" "66328095" "subst" "0" "00006" "ACTN3_000001" "g.66328095=" "9/32 cases" "{PMID:Suminaga 2000:10797427}, {OMIM102574:0001}" "DdeI+" "" "no association with BMD phenotype\r\n" "Germline" "" "" "0" "" "" "g.66560624C>T" "" "pathogenic" "" "0000048403" "1" "90" "11" "66328095" "66328095" "subst" "0" "00006" "ACTN3_000001" "g.66328095=" "16/32 cases" "{PMID:Suminaga 2000:10797427}, {OMIM102574:0001}" "DdeI+" "" "no association with BMD phenotype\r\n" "Germline" "" "" "0" "" "" "g.66560624C>T" "" "pathogenic" "" "0000048404" "3" "90" "11" "66328095" "66328095" "subst" "0" "00006" "ACTN3_000001" "g.66328095=" "9/30 controls" "{PMID:Suminaga 2000:10797427}, {OMIM102574:0001}" "DdeI+" "" "" "Germline" "" "" "0" "" "" "g.66560624C>T" "" "pathogenic" "" "0000048405" "1" "90" "11" "66328095" "66328095" "subst" "0" "00006" "ACTN3_000001" "g.66328095=" "16/30 controls" "{PMID:Suminaga 2000:10797427}, {OMIM102574:0001}" "DdeI+" "" "" "Germline" "" "" "0" "" "" "g.66560624C>T" "" "pathogenic" "" "0000048406" "3" "90" "11" "66328095" "66328095" "subst" "0" "00006" "ACTN3_000001" "g.66328095=" "80/436 controls" "{PMID:Yang 2003:12879365}, {OMIM102574:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.66560624C>T" "" "pathogenic" "" "0000048407" "1" "90" "11" "66328095" "66328095" "subst" "0" "00006" "ACTN3_000001" "g.66328095=" "226/436 controls" "{PMID:Yang 2003:12879365}, {OMIM102574:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.66560624C>T" "" "pathogenic" "" "0000048408" "3" "90" "11" "66328095" "66328095" "subst" "0" "00006" "ACTN3_000001" "g.66328095=" "6/107 athletes (sprint/power)" "{PMID:Yang 2003:12879365}, {OMIM102574:0001}" "" "" "reduced frequency F=0/35, M=6/72 (sprint/power), increased homozygous wt esp. in male (M=38/72, F=15/35)\r\n" "Germline" "" "" "0" "" "" "g.66560624C>T" "" "pathogenic" "" "0000048409" "1" "90" "11" "66328095" "66328095" "subst" "0" "00006" "ACTN3_000001" "g.66328095=" "48/107 athletes (sprint/power)" "{PMID:Yang 2003:12879365}, {OMIM102574:0001}" "" "" "reduced frequency F=20/35, M=28/72 (sprint/power)\r\n" "Germline" "" "" "0" "" "" "g.66560624C>T" "" "pathogenic" "" "0000048410" "3" "90" "11" "66328095" "66328095" "subst" "0" "00006" "ACTN3_000001" "g.66328095=" "46/194 athletes (endurance)" "{PMID:Yang 2003:12879365}, {OMIM102574:0001}" "" "" "increased frequency in athletes F=21/72, M=25/122 (compared to sprint/power)\r\n" "Germline" "" "" "0" "" "" "g.66560624C>T" "" "pathogenic" "" "0000048411" "1" "90" "11" "66328095" "66328095" "subst" "0" "00006" "ACTN3_000001" "g.66328095=" "88/194 athletes (endurance)" "{PMID:Yang 2003:12879365}, {OMIM102574:0001}" "" "" "frequencies F=25/72, M=63/122\r\n" "Germline" "" "" "0" "" "" "g.66560624C>T" "" "pathogenic" "" "0000048412" "3" "90" "11" "66328095" "66328095" "subst" "0" "00006" "ACTN3_000001" "g.66328095=" "11/120 controls" "{PMID:Niemi 2005:15886711}, {OMIM102574:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.66560624C>T" "" "pathogenic" "" "0000048413" "1" "90" "11" "66328095" "66328095" "subst" "0" "00006" "ACTN3_000001" "g.66328095=" "55/120 controls" "{PMID:Niemi 2005:15886711}, {OMIM102574:0001}" "DdeI+" "" "" "Germline" "" "" "0" "" "" "g.66560624C>T" "" "pathogenic" "" "0000048414" "3" "90" "11" "66328095" "66328095" "subst" "0" "00006" "ACTN3_000001" "g.66328095=" "6/68 athletes (sprint)" "{PMID:Niemi 2005:15886711}, {OMIM102574:0001}" "DdeI+" "" "reduced frequency (0/33 top athletes, sprint)\r\n" "Germline" "" "" "0" "" "" "g.66560624C>T" "" "pathogenic" "" "0000048415" "1" "90" "11" "66328095" "66328095" "subst" "0" "00006" "ACTN3_000001" "g.66328095=" "27/68 athletes (sprint)" "{PMID:Niemi 2005:15886711}, {OMIM102574:0001}" "DdeI+" "" "12/33 top athletes (sprint)\r\n" "Germline" "" "" "0" "" "" "g.66560624C>T" "" "pathogenic" "" "0000048416" "3" "90" "11" "66328095" "66328095" "subst" "0" "00006" "ACTN3_000001" "g.66328095=" "4/40 athletes (endurance)" "{PMID:Niemi 2005:15886711}, {OMIM102574:0001}" "" "" "increased frequency (3/20 top athletes, endurance)\r\n" "Germline" "" "" "0" "" "" "g.66560624C>T" "" "pathogenic" "" "0000048417" "1" "90" "11" "66328095" "66328095" "subst" "0" "00006" "ACTN3_000001" "g.66328095=" "16/40 athletes (endurance)" "{PMID:Niemi 2005:15886711}, {OMIM102574:0001}" "DdeI+" "" "7/20 top athletes (endurance)\r\n" "Germline" "" "" "0" "" "" "g.66560624C>T" "" "pathogenic" "" "0000048418" "3" "90" "11" "66328095" "66328095" "subst" "0" "00006" "ACTN3_000001" "g.66328095=" "93/507 controls" "{PMID:Moran 2007:17033684}, {OMIM102574:0001}" "" "" "associates with increased 40m sprint time (6.13 vs 5.92 wt)\r\n" "Germline" "" "" "0" "" "" "g.66560624C>T" "" "pathogenic" "" "0000048419" "1" "90" "11" "66328095" "66328095" "subst" "0" "00006" "ACTN3_000001" "g.66328095=" "242/507 controls" "{PMID:Moran 2007:17033684}, {OMIM102574:0001}" "" "" "associates with increased 40m sprint time (6.00 vs 5.92 wt)\r\n" "Germline" "" "" "0" "" "" "g.66560624C>T" "" "pathogenic" "" "0000249908" "0" "10" "11" "66331458" "66331458" "subst" "0.520568" "02329" "CTSF_000004" "g.66331458A>G" "" "" "" "CTSF(NM_003793.3):c.1401T>C (p.R467=), CTSF(NM_003793.4):c.1401T>C (p.R467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66563987A>G" "" "benign" "" "0000249909" "0" "10" "11" "66335548" "66335548" "subst" "0.467143" "02329" "CTSF_000001" "g.66335548A>G" "" "" "" "CTSF(NM_003793.3):c.219T>C (p.G73=), CTSF(NM_003793.4):c.219T>C (p.G73=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66568077A>G" "" "benign" "" "0000250523" "0" "90" "11" "66334730" "66334730" "subst" "0" "02329" "CTSF_000014" "g.66334730A>T" "" "" "" "CTSF(NM_003793.4):c.594T>A (p.Y198*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66567259A>T" "" "pathogenic" "" "0000251031" "0" "10" "11" "66328055" "66328055" "subst" "0.159408" "02326" "CTSF_000019" "g.66328055A>G" "" "" "" "ACTN3(NM_001258371.2):c.1818A>G (p.T606=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66560584A>G" "" "benign" "" "0000253132" "0" "10" "11" "66331458" "66331458" "subst" "0.520568" "01943" "CTSF_000004" "g.66331458A>G" "" "" "" "CTSF(NM_003793.3):c.1401T>C (p.R467=), CTSF(NM_003793.4):c.1401T>C (p.R467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66563987A>G" "" "benign" "" "0000253133" "0" "10" "11" "66335548" "66335548" "subst" "0.467143" "01943" "CTSF_000001" "g.66335548A>G" "" "" "" "CTSF(NM_003793.3):c.219T>C (p.G73=), CTSF(NM_003793.4):c.219T>C (p.G73=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66568077A>G" "" "benign" "" "0000268629" "0" "30" "11" "66332134" "66332134" "subst" "0.000188495" "02329" "CTSF_000006" "g.66332134G>A" "" "" "" "CTSF(NM_003793.4):c.1231-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66564663G>A" "" "likely benign" "" "0000268631" "0" "90" "11" "66335552" "66335552" "del" "0" "02329" "CTSF_000016" "g.66335552del" "" "" "" "CTSF(NM_003793.4):c.215delC (p.A72Gfs*76)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66568081del" "" "pathogenic" "" "0000268632" "0" "30" "11" "66335028" "66335028" "subst" "0.00308614" "02329" "CTSF_000015" "g.66335028C>T" "" "" "" "CTSF(NM_003793.4):c.418G>A (p.A140T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66567557C>T" "" "likely benign" "" "0000268633" "0" "70" "11" "66333834" "66333834" "subst" "8.12295E-6" "02329" "CTSF_000013" "g.66333834G>A" "" "" "" "CTSF(NM_003793.4):c.649C>T (p.R217*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66566363G>A" "" "likely pathogenic" "" "0000268634" "0" "30" "11" "66333807" "66333807" "subst" "0.00291583" "02329" "CTSF_000012" "g.66333807G>A" "" "" "" "CTSF(NM_003793.3):c.676C>T (p.R226C), CTSF(NM_003793.4):c.676C>T (p.R226C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66566336G>A" "" "likely benign" "" "0000268635" "0" "30" "11" "66333800" "66333800" "subst" "0.00103149" "02329" "CTSF_000011" "g.66333800G>C" "" "" "" "CTSF(NM_003793.3):c.683C>G (p.T228R), CTSF(NM_003793.4):c.683C>G (p.T228R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66566329G>C" "" "likely benign" "" "0000268636" "0" "10" "11" "66333643" "66333643" "subst" "0.0881855" "02329" "CTSF_000010" "g.66333643G>A" "" "" "" "CTSF(NM_003793.4):c.722-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66566172G>A" "" "benign" "" "0000268637" "0" "10" "11" "66333598" "66333598" "subst" "0.521264" "02329" "CTSF_000009" "g.66333598C>T" "" "" "" "CTSF(NM_003793.3):c.762G>A (p.R254=), CTSF(NM_003793.4):c.762G>A (p.R254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66566127C>T" "" "benign" "" "0000268638" "0" "90" "11" "66333569" "66333569" "del" "0" "02329" "CTSF_000008" "g.66333569del" "" "" "" "CTSF(NM_003793.4):c.792delC (p.K265Sfs*81)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66566098del" "" "pathogenic" "" "0000274603" "0" "50" "11" "66333181" "66333181" "subst" "0" "01943" "CTSF_000007" "g.66333181C>A" "" "" "" "CTSF(NM_003793.3):c.1006G>T (p.G336C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66565710C>A" "" "VUS" "" "0000274605" "0" "50" "11" "66331591" "66331591" "subst" "0" "01943" "CTSF_000005" "g.66331591T>C" "" "" "" "CTSF(NM_003793.3):c.1348A>G (p.K450E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66564120T>C" "" "VUS" "" "0000274606" "0" "30" "11" "66335798" "66335798" "subst" "0" "01943" "CTSF_000017" "g.66335798G>C" "" "" "" "CTSF(NM_003793.3):c.160C>G (p.R54G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66568327G>C" "" "likely benign" "" "0000274607" "0" "10" "11" "66333598" "66333598" "subst" "0.521264" "01943" "CTSF_000009" "g.66333598C>T" "" "" "" "CTSF(NM_003793.3):c.762G>A (p.R254=), CTSF(NM_003793.4):c.762G>A (p.R254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66566127C>T" "" "benign" "" "0000545138" "0" "30" "11" "66331571" "66331571" "subst" "0.00175269" "02329" "CTSF_000020" "g.66331571G>A" "" "" "" "CTSF(NM_003793.4):c.1368C>T (p.D456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66564100G>A" "" "likely benign" "" "0000545139" "0" "30" "11" "66332132" "66332132" "subst" "0.000734166" "02329" "CTSF_000021" "g.66332132A>G" "" "" "" "CTSF(NM_003793.4):c.1231-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66564661A>G" "" "likely benign" "" "0000545140" "0" "30" "11" "66333327" "66333327" "subst" "0.00175929" "02329" "CTSF_000022" "g.66333327C>T" "" "" "" "CTSF(NM_003793.4):c.939G>A (p.G313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66565856C>T" "" "likely benign" "" "0000545142" "0" "50" "11" "66333800" "66333800" "subst" "0.00103149" "01943" "CTSF_000011" "g.66333800G>C" "" "" "" "CTSF(NM_003793.3):c.683C>G (p.T228R), CTSF(NM_003793.4):c.683C>G (p.T228R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66566329G>C" "" "VUS" "" "0000545143" "0" "30" "11" "66333807" "66333807" "subst" "0.00291583" "01943" "CTSF_000012" "g.66333807G>A" "" "" "" "CTSF(NM_003793.3):c.676C>T (p.R226C), CTSF(NM_003793.4):c.676C>T (p.R226C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66566336G>A" "" "likely benign" "" "0000545144" "0" "30" "11" "66333855" "66333855" "subst" "6.5001E-5" "02329" "CTSF_000023" "g.66333855C>T" "" "" "" "CTSF(NM_003793.4):c.628G>A (p.V210I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66566384C>T" "" "likely benign" "" "0000545145" "0" "30" "11" "66334727" "66334727" "subst" "0.000207102" "02329" "CTSF_000024" "g.66334727C>T" "" "" "" "CTSF(NM_003793.4):c.597G>A (p.E199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66567256C>T" "" "likely benign" "" "0000545146" "0" "30" "11" "66335094" "66335094" "subst" "4.06653E-6" "02329" "CTSF_000025" "g.66335094C>T" "" "" "" "CTSF(NM_003793.4):c.352G>A (p.V118M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66567623C>T" "" "likely benign" "" "0000613590" "0" "50" "11" "66333798" "66333798" "subst" "0" "01943" "CTSF_000027" "g.66333798C>G" "" "" "" "CTSF(NM_003793.3):c.685G>C (p.A229P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66566327C>G" "" "VUS" "" "0000622685" "0" "30" "11" "66332128" "66332128" "subst" "0" "01943" "CTSF_000026" "g.66332128G>A" "" "" "" "CTSF(NM_003793.3):c.1231-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66564657G>A" "" "likely benign" "" "0000656866" "0" "70" "11" "66331443" "66331443" "subst" "0" "02329" "CTSF_000029" "g.66331443A>C" "" "" "" "CTSF(NM_003793.4):c.1416T>G (p.C472W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66563972A>C" "" "likely pathogenic" "" "0000656867" "0" "30" "11" "66333869" "66333869" "subst" "0.000134197" "02329" "CTSF_000030" "g.66333869C>T" "" "" "" "CTSF(NM_003793.4):c.614G>A (p.R205Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.66566398C>T" "" "likely benign" "" "0000691134" "0" "50" "11" "66327763" "66327763" "subst" "0" "01943" "CTSF_000032" "g.66327763A>G" "" "" "" "ACTN3(NM_001258371.2):c.1787A>G (p.H596R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691135" "0" "30" "11" "66329099" "66329099" "subst" "0" "01943" "CTSF_000033" "g.66329099C>T" "" "" "" "ACTN3(NM_001258371.2):c.2295C>T (p.Y765=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723609" "0" "70" "11" "66332107" "66332107" "subst" "8.00978E-5" "01943" "CTSF_000034" "g.66332107C>T" "" "" "" "CTSF(NM_003793.3):c.1243G>A (p.G415R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723610" "0" "30" "11" "66335503" "66335503" "subst" "4.26741E-6" "02329" "CTSF_000035" "g.66335503G>C" "" "" "" "CTSF(NM_003793.4):c.264C>G (p.P88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000780180" "3" "50" "11" "66326677" "66326677" "subst" "0.00134312" "00006" "ACTN3_000003" "g.66326677G>A" "" "{PMID:Melo 2015:26385635}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000805292" "0" "30" "11" "66334711" "66334711" "subst" "0" "01943" "CTSF_000036" "g.66334711C>T" "" "" "" "CTSF(NM_003793.3):c.607+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805293" "0" "30" "11" "66335781" "66335781" "subst" "0.000560538" "01943" "CTSF_000037" "g.66335781C>T" "" "" "" "CTSF(NM_003793.3):c.177G>A (p.R59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890093" "0" "70" "11" "66333223" "66333223" "subst" "4.06167E-6" "02329" "CTSF_000038" "g.66333223C>T" "" "" "" "CTSF(NM_003793.4):c.965-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000966505" "0" "50" "11" "66325510" "66325510" "subst" "0.000126244" "02325" "ACTN3_000004" "g.66325510G>A" "" "" "" "ACTN3(NM_001104.4):c.1141G>A (p.A381T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966506" "0" "50" "11" "66325609" "66325609" "subst" "0.000439596" "02325" "ACTN3_000005" "g.66325609C>T" "" "" "" "ACTN3(NM_001104.4):c.1240C>T (p.R414W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979768" "0" "30" "11" "66322675" "66322675" "subst" "0.0051791" "01804" "ACTN3_000006" "g.66322675G>A" "" "" "" "ACTN3(NM_001104.4):c.632G>A (p.(Arg211Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979769" "0" "30" "11" "66325264" "66325264" "subst" "0.00175308" "01804" "ACTN3_000007" "g.66325264G>A" "" "" "" "ACTN3(NM_001104.4):c.992G>A (p.(Arg331Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999331" "0" "50" "11" "66331468" "66331468" "subst" "0" "01804" "CTSF_000039" "g.66331468T>C" "" "" "" "CTSF(NM_003793.3):c.1391A>G (p.(Tyr464Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999332" "0" "50" "11" "66335783" "66335783" "subst" "0" "01804" "CTSF_000040" "g.66335783G>A" "" "" "" "CTSF(NM_003793.3):c.175C>T (p.(Arg59Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014860" "0" "50" "11" "66332035" "66332035" "subst" "0" "02329" "CTSF_000041" "g.66332035C>G" "" "" "" "CTSF(NM_003793.4):c.1315G>C (p.G439R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014861" "0" "50" "11" "66334914" "66334914" "subst" "0" "02329" "CTSF_000042" "g.66334914C>G" "" "" "" "CTSF(NM_003793.4):c.531+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001023532" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023533" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023534" "3" "50" "11" "66328095" "66328095" "subst" "0.539397" "00454" "ACTN3_000002" "g.66328095T>C" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624=" "" "association" "" "0001023535" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023536" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023537" "3" "50" "11" "66328095" "66328095" "subst" "0.539397" "00454" "ACTN3_000002" "g.66328095T>C" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624=" "" "association" "" "0001023538" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023539" "3" "50" "11" "66328095" "66328095" "subst" "0.539397" "00454" "ACTN3_000002" "g.66328095T>C" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624=" "" "association" "" "0001023540" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023541" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023542" "3" "50" "11" "66328095" "66328095" "subst" "0.539397" "00454" "ACTN3_000002" "g.66328095T>C" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624=" "" "association" "" "0001023543" "3" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023544" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023545" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023546" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023547" "3" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023548" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023549" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023550" "3" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023551" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023552" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023553" "3" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023554" "3" "50" "11" "66328095" "66328095" "subst" "0.539397" "00454" "ACTN3_000002" "g.66328095T>C" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624=" "" "association" "" "0001023555" "3" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023556" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023557" "3" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023558" "3" "50" "11" "66328095" "66328095" "subst" "0.539397" "00454" "ACTN3_000002" "g.66328095T>C" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624=" "" "association" "" "0001023559" "3" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023560" "3" "50" "11" "66328095" "66328095" "subst" "0.539397" "00454" "ACTN3_000002" "g.66328095T>C" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624=" "" "association" "" "0001023561" "3" "50" "11" "66328095" "66328095" "subst" "0.539397" "00454" "ACTN3_000002" "g.66328095T>C" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624=" "" "association" "" "0001023562" "3" "50" "11" "66328095" "66328095" "subst" "0.539397" "00454" "ACTN3_000002" "g.66328095T>C" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624=" "" "association" "" "0001023563" "3" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023564" "3" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023565" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023566" "3" "50" "11" "66328095" "66328095" "subst" "0.539397" "00454" "ACTN3_000002" "g.66328095T>C" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624=" "" "association" "" "0001023567" "3" "50" "11" "66328095" "66328095" "subst" "0.539397" "00454" "ACTN3_000002" "g.66328095T>C" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624=" "" "association" "" "0001023568" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023569" "3" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023570" "3" "50" "11" "66328095" "66328095" "subst" "0.539397" "00454" "ACTN3_000002" "g.66328095T>C" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624=" "" "association" "" "0001023571" "3" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023572" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023573" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023574" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023575" "3" "50" "11" "66328095" "66328095" "subst" "0.539397" "00454" "ACTN3_000002" "g.66328095T>C" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624=" "" "association" "" "0001023576" "3" "50" "11" "66328095" "66328095" "subst" "0.539397" "00454" "ACTN3_000002" "g.66328095T>C" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624=" "" "association" "" "0001023577" "3" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023578" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023579" "3" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023580" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023581" "3" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023582" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023583" "3" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023584" "3" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023585" "3" "50" "11" "66328095" "66328095" "subst" "0.539397" "00454" "ACTN3_000002" "g.66328095T>C" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624=" "" "association" "" "0001023586" "3" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023587" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023588" "3" "50" "11" "66328095" "66328095" "subst" "0.539397" "00454" "ACTN3_000002" "g.66328095T>C" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624=" "" "association" "" "0001023589" "3" "50" "11" "66328095" "66328095" "subst" "0.539397" "00454" "ACTN3_000002" "g.66328095T>C" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624=" "" "association" "" "0001023590" "3" "50" "11" "66328095" "66328095" "subst" "0.539397" "00454" "ACTN3_000002" "g.66328095T>C" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624=" "" "association" "" "0001023591" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023592" "3" "50" "11" "66328095" "66328095" "subst" "0.539397" "00454" "ACTN3_000002" "g.66328095T>C" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624=" "" "association" "" "0001023593" "3" "50" "11" "66328095" "66328095" "subst" "0.539397" "00454" "ACTN3_000002" "g.66328095T>C" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624=" "" "association" "" "0001023594" "3" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023595" "1" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" "0001023596" "3" "50" "11" "66328095" "66328095" "subst" "0.539397" "00454" "ACTN3_000002" "g.66328095T>C" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624=" "" "association" "" "0001023597" "3" "50" "11" "66328095" "66328095" "=" "0" "00454" "ACTN3_000001" "g.66328095=" "" "{PMID:Luce 2024:39674052}" "" "" "heterozygous T-allele associated with more severe phenotype" "Germline" "" "rs1815739" "0" "" "" "g.66560624C>T" "" "association" "" ## 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 ACTN3 ## Count = 136 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000048397" "00023990" "90" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "15" "0000048398" "00023990" "90" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "15" "0000048399" "00023990" "90" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "15" "0000048400" "00023990" "90" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "15" "0000048401" "00023990" "90" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "15" "0000048402" "00023990" "90" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "15" "0000048403" "00023990" "90" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "15" "0000048404" "00023990" "90" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "15" "0000048405" "00023990" "90" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "15" "0000048406" "00023990" "90" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "15" "0000048407" "00023990" "90" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "15" "0000048408" "00023990" "90" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "15" "0000048409" "00023990" "90" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "15" "0000048410" "00023990" "90" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "15" "0000048411" "00023990" "90" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "15" "0000048412" "00023990" "90" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "15" "0000048413" "00023990" "90" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "15" "0000048414" "00023990" "90" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "15" "0000048415" "00023990" "90" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "15" "0000048416" "00023990" "90" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "15" "0000048417" "00023990" "90" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "15" "0000048418" "00023990" "90" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "15" "0000048419" "00023990" "90" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577*)" "15" "0000249908" "00023990" "10" "3500" "0" "3500" "0" "c.*794A>G" "r.(=)" "p.(=)" "" "0000249909" "00023990" "10" "7590" "0" "7590" "0" "c.*4884A>G" "r.(=)" "p.(=)" "" "0000250523" "00023990" "90" "6772" "0" "6772" "0" "c.*4066A>T" "r.(=)" "p.(=)" "" "0000251031" "00023990" "10" "1689" "0" "1689" "0" "c.1689A>G" "r.(?)" "p.?" "" "0000253132" "00023990" "10" "3500" "0" "3500" "0" "c.*794A>G" "r.(=)" "p.(=)" "" "0000253133" "00023990" "10" "7590" "0" "7590" "0" "c.*4884A>G" "r.(=)" "p.(=)" "" "0000268629" "00023990" "30" "4176" "0" "4176" "0" "c.*1470G>A" "r.(=)" "p.(=)" "" "0000268631" "00023990" "90" "7594" "0" "7594" "0" "c.*4888del" "r.?" "p.?" "" "0000268632" "00023990" "30" "7070" "0" "7070" "0" "c.*4364C>T" "r.(=)" "p.(=)" "" "0000268633" "00023990" "70" "5876" "0" "5876" "0" "c.*3170G>A" "r.(=)" "p.(=)" "" "0000268634" "00023990" "30" "5849" "0" "5849" "0" "c.*3143G>A" "r.(=)" "p.(=)" "" "0000268635" "00023990" "30" "5842" "0" "5842" "0" "c.*3136G>C" "r.(=)" "p.(=)" "" "0000268636" "00023990" "10" "5685" "0" "5685" "0" "c.*2979G>A" "r.(=)" "p.(=)" "" "0000268637" "00023990" "10" "5640" "0" "5640" "0" "c.*2934C>T" "r.(=)" "p.(=)" "" "0000268638" "00023990" "90" "5611" "0" "5611" "0" "c.*2905del" "r.?" "p.?" "" "0000274603" "00023990" "50" "5223" "0" "5223" "0" "c.*2517C>A" "r.(=)" "p.(=)" "" "0000274605" "00023990" "50" "3633" "0" "3633" "0" "c.*927T>C" "r.(=)" "p.(=)" "" "0000274606" "00023990" "30" "7840" "0" "7840" "0" "c.*5134G>C" "r.(=)" "p.(=)" "" "0000274607" "00023990" "10" "5640" "0" "5640" "0" "c.*2934C>T" "r.(=)" "p.(=)" "" "0000545138" "00023990" "30" "3613" "0" "3613" "0" "c.*907G>A" "r.(=)" "p.(=)" "" "0000545139" "00023990" "30" "4174" "0" "4174" "0" "c.*1468A>G" "r.(=)" "p.(=)" "" "0000545140" "00023990" "30" "5369" "0" "5369" "0" "c.*2663C>T" "r.(=)" "p.(=)" "" "0000545142" "00023990" "50" "5842" "0" "5842" "0" "c.*3136G>C" "r.(=)" "p.(=)" "" "0000545143" "00023990" "30" "5849" "0" "5849" "0" "c.*3143G>A" "r.(=)" "p.(=)" "" "0000545144" "00023990" "30" "5897" "0" "5897" "0" "c.*3191C>T" "r.(=)" "p.(=)" "" "0000545145" "00023990" "30" "6769" "0" "6769" "0" "c.*4063C>T" "r.(=)" "p.(=)" "" "0000545146" "00023990" "30" "7136" "0" "7136" "0" "c.*4430C>T" "r.(=)" "p.(=)" "" "0000613590" "00023990" "50" "5840" "0" "5840" "0" "c.*3134C>G" "r.(=)" "p.(=)" "" "0000622685" "00023990" "30" "4170" "0" "4170" "0" "c.*1464G>A" "r.(=)" "p.(=)" "" "0000656866" "00023990" "70" "3485" "0" "3485" "0" "c.*779A>C" "r.(=)" "p.(=)" "" "0000656867" "00023990" "30" "5911" "0" "5911" "0" "c.*3205C>T" "r.(=)" "p.(=)" "" "0000691134" "00023990" "50" "1658" "0" "1658" "0" "c.1658A>G" "r.(?)" "p.?" "" "0000691135" "00023990" "30" "2166" "0" "2166" "0" "c.2166C>T" "r.(?)" "p.?" "" "0000723609" "00023990" "70" "4149" "0" "4149" "0" "c.*1443C>T" "r.(=)" "p.(=)" "" "0000723610" "00023990" "30" "7545" "0" "7545" "0" "c.*4839G>C" "r.(=)" "p.(=)" "" "0000780180" "00023990" "50" "1277" "-30" "1277" "-30" "c.1277-30G>A" "r.(?)" "p.(=)" "" "0000805292" "00023990" "30" "6753" "0" "6753" "0" "c.*4047C>T" "r.(=)" "p.(=)" "" "0000805293" "00023990" "30" "7823" "0" "7823" "0" "c.*5117C>T" "r.(=)" "p.(=)" "" "0000890093" "00023990" "70" "5265" "0" "5265" "0" "c.*2559C>T" "r.(=)" "p.(=)" "" "0000966505" "00023990" "50" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.?" "" "0000966506" "00023990" "50" "1240" "0" "1240" "0" "c.1240C>T" "r.(?)" "p.?" "" "0000979768" "00023990" "30" "632" "0" "632" "0" "c.632G>A" "r.(?)" "p.?" "" "0000979769" "00023990" "30" "992" "0" "992" "0" "c.992G>A" "r.(?)" "p.?" "" "0000999331" "00023990" "50" "3510" "0" "3510" "0" "c.*804T>C" "r.(=)" "p.(=)" "" "0000999332" "00023990" "50" "7825" "0" "7825" "0" "c.*5119G>A" "r.(=)" "p.(=)" "" "0001014860" "00023990" "50" "4077" "0" "4077" "0" "c.*1371C>G" "r.(=)" "p.(=)" "" "0001014861" "00023990" "50" "6956" "0" "6956" "0" "c.*4250C>G" "r.(=)" "p.(=)" "" "0001023532" "00023990" "50" "1729" "0" "1729" "0" "c.1729C>A" "r.(?)" "p.(Arg577Ter)" "15" "0001023533" "00023990" "50" "1729" "0" "1729" "0" "c.1729C>A" "r.(?)" "p.(Arg577Ter)" "15" "0001023534" "00023990" "50" "1729" "0" "1729" "0" "c.1729=" "r.(?)" "p.(=)" "15" "0001023535" "00023990" "50" "1729" "0" "1729" "0" "c.1729C>A" "r.(?)" "p.(Arg577Ter)" "15" "0001023536" "00023990" "50" "1729" "0" "1729" "0" "c.1729C>A" "r.(?)" "p.(Arg577Ter)" "15" "0001023537" "00023990" "50" "1729" "0" "1729" "0" "c.1729=" "r.(?)" "p.(=)" "15" "0001023538" "00023990" "50" "1729" "0" "1729" "0" "c.1729C>A" "r.(?)" "p.(Arg577Ter)" "15" "0001023539" "00023990" "50" "1729" "0" "1729" "0" "c.1729=" "r.(?)" "p.(=)" "15" "0001023540" "00023990" "50" "1729" "0" "1729" "0" "c.1729C>A" "r.(?)" "p.(Arg577Ter)" "15" "0001023541" "00023990" "50" "1729" "0" "1729" "0" "c.1729C>A" "r.(?)" "p.(Arg577Ter)" "15" "0001023542" "00023990" "50" "1729" "0" "1729" "0" "c.1729=" "r.(?)" "p.(=)" "15" "0001023543" "00023990" "50" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577Ter)" "15" "0001023544" "00023990" "50" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577Ter)" "15" "0001023545" "00023990" "50" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577Ter)" "15" "0001023546" "00023990" "50" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577Ter)" "15" "0001023547" "00023990" "50" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577Ter)" "15" "0001023548" "00023990" "50" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577Ter)" "15" "0001023549" "00023990" "50" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" 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"p.(Arg577Ter)" "15" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 90 "{{screeningid}}" "{{variantid}}" "0000025504" "0000048397" "0000025505" "0000048398" "0000025506" "0000048399" "0000025507" "0000048400" "0000025507" "0000048401" "0000025508" "0000048402" "0000025508" "0000048403" "0000025509" "0000048404" "0000025509" "0000048405" "0000025510" "0000048406" "0000025510" "0000048407" "0000025511" "0000048408" "0000025511" "0000048409" "0000025512" "0000048410" "0000025512" "0000048411" "0000025513" "0000048412" "0000025513" "0000048413" "0000025514" "0000048414" "0000025514" "0000048415" "0000025515" "0000048416" "0000025515" "0000048417" "0000025516" "0000048418" "0000025516" "0000048419" "0000119573" "0001023594" "0000142141" "0001023579" "0000142155" "0001023590" "0000145538" "0001023592" "0000145541" "0001023591" "0000267557" "0001023583" "0000267562" "0001023585" "0000275632" "0001023595" "0000275640" "0001023580" "0000275658" "0001023596" "0000275665" "0001023593" "0000364182" "0001023597" "0000364196" "0001023589" "0000364204" "0001023586" "0000364230" "0001023582" "0000364234" "0001023584" "0000364274" "0001023581" "0000364289" "0001023587" "0000364332" "0001023588" "0000372892" "0000780180" "0000463765" "0001023532" "0000463766" "0001023533" "0000463767" "0001023534" "0000463768" "0001023535" "0000463769" "0001023536" "0000463770" "0001023537" "0000463771" "0001023538" "0000463772" "0001023539" "0000463773" "0001023540" "0000463774" "0001023541" "0000463775" "0001023542" "0000463776" "0001023543" "0000463777" "0001023544" "0000463778" "0001023545" "0000463779" "0001023546" "0000463780" "0001023547" "0000463781" "0001023548" "0000463782" "0001023549" "0000463783" "0001023550" "0000463784" "0001023551" "0000463785" "0001023552" "0000463786" "0001023553" "0000463787" "0001023554" "0000463788" "0001023555" "0000463789" "0001023556" "0000463790" "0001023557" "0000463791" "0001023558" "0000463792" "0001023559" "0000463793" "0001023560" "0000463794" "0001023561" "0000463795" "0001023562" "0000463796" "0001023563" "0000463797" "0001023564" "0000463798" "0001023565" "0000463799" "0001023566" "0000463800" "0001023567" "0000463801" "0001023568" "0000463802" "0001023569" "0000463803" "0001023570" "0000463804" "0001023571" "0000463805" "0001023572" "0000463806" "0001023573" "0000463807" "0001023574" "0000463808" "0001023575" "0000463809" "0001023576" "0000463810" "0001023577" "0000463811" "0001023578"