### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNM1L) # 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}}" "DNM1L" "dynamin 1-like" "12" "p11.21" "unknown" "NG_012219.1" "UD_132084486887" "" "https://www.LOVD.nl/DNM1L" "" "1" "2973" "10059" "603850" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/DNM1L_NM_001278464.1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-23 09:30:10" "00000" "2022-05-09 15:51:19" ## 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}}" "00025380" "DNM1L" "transcript variant 5" "001" "NM_001278464.1" "" "NP_001265393.1" "" "" "" "-164" "4490" "2250" "32832134" "32898584" "00006" "2019-02-23 09:21:03" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "03624" "EMPF" "encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-21 21:28:29" "04293" "OPA" "atrophy, optic (OPA)" "" "" "" "" "" "00006" "2015-06-21 20:48:01" "00006" "2018-11-16 15:59:50" "05499" "OPA5" "atrophy, optic, type 5 (OPA-5)" "AD" "610708" "" "autosomal dominant" "" "00006" "2018-11-05 20:03:18" "00006" "2021-12-10 21:51:32" "05550" "EMPF1" "encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF-1)" "AD;AR" "614388" "" "" "" "00006" "2019-01-21 21:26:45" "00006" "2021-12-10 21:51:32" "05684" "neuropathy, optic" "neuropathy, optic" "" "" "" "" "" "00006" "2020-01-10 11:57:41" "00091" "2021-02-19 09:59:43" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "DNM1L" "03624" "DNM1L" "04293" "DNM1L" "05499" "DNM1L" "05550" "DNM1L" "05684" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00047314" "" "" "" "1" "" "01378" "{PMID:Vanstone 2016:26604000}, {DOI:Vanstone 2016:10.1038/ejhg.2015.243}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Canada" "" "0" "" "" "white" "26604000-Pat1" "00059110" "" "" "" "2" "" "00095" "{PMID:Nasca 2016:27328748}, {DOI:Nasca 2016:10.1002/humu.23033}" "2-generation family, 2 affected brothers (II2/II3), unaffected heterozygous carrier parents" "M" "no" "Italy" "" "0" "" "" "" "27328748-Fam" "00074478" "" "" "" "1" "" "01470" "" "" "F" "" "Spain" "" "0" "" "" "" "" "00081042" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00100785" "" "" "" "1" "" "00006" "{PMID:Waterham 2007:17460227}, {DOI:Waterham 2007:10.1056/NEJMoa064436}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "United Kingdom (Great Britain)" "00y00m37d" "0" "" "" "white, British" "17460227-Pat1" "00100786" "" "" "" "1" "" "00006" "{PMID:Sheffer 2016:26992161}, {DOI:Sheffer 2016:10.1002/ajmg.a.37624}" "2-generation family, 1 affected, unaffected non-carrier parents/sibs" "M" "no" "Israel" ">02y" "0" "" "" "Arab, Moslem" "26992161-Pat1" "00100787" "" "" "" "2" "" "00006" "{PMID:Yoon 2016:26825290}, {DOI:Yoon 2016:10.1016/j.jpeds.2015.12.060}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "no" "Canada" "00y00m21d" "0" "" "" "Filipino" "26825290-FamPatA" "00100788" "" "" "00100787" "1" "" "00006" "{PMID:Yoon 2016:26825290}, {DOI:Yoon 2016:10.1016/j.jpeds.2015.12.060}" "" "M" "no" "Canada" "00y00m08d" "0" "" "" "Filipino" "26825290-FamPatB" "00100789" "" "" "" "1" "" "00006" "{PMID:Fahrner 2016:27145208}, {DOI:Fahrner 2016:10.1002/ajmg.a.37721}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "United States" ">04y" "0" "" "" "" "27145208-Pat1" "00100790" "" "" "" "1" "" "00006" "{PMID:Fahrner 2016:27145208}, {DOI:Fahrner 2016:10.1002/ajmg.a.37721}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "United States" ">05y" "0" "" "" "" "27145208-Pat2" "00100791" "" "" "" "1" "" "00006" "{PMID:Chao 2016:26931468}, {DOI:Chao 2016:10.1093/hmg/ddw059}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "United States" "05y" "0" "" "" "" "26931468-Pat" "00100792" "" "" "" "1" "" "00006" "{PMID:Chao 2016:26931468}, {DOI:Chao 2016:10.1093/hmg/ddw059}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "United States" "00y10m" "0" "" "" "" "26931468-Pat2" "00218065" "" "" "" "1" "" "03183" "" "" "" "" "Italy" "" "0" "" "" "" "pt-ab" "00218066" "" "" "" "1" "" "03183" "" "" "" "" "Italy" "" "0" "" "" "" "pt-szy" "00218067" "" "" "" "1" "" "03183" "" "" "" "" "Italy" "" "0" "" "" "" "Pt-mos" "00324497" "" "" "" "1" "" "00091" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00374715" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5743" "00374716" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5507" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00047314" "03624" "00059110" "00198" "00074478" "03624" "00081042" "03624" "00100785" "03624" "00100786" "03624" "00100787" "03624" "00100788" "03624" "00100789" "00344" "00100790" "00344" "00100791" "00344" "00100792" "00344" "00218065" "03624" "00218066" "03624" "00218067" "03624" "00324497" "04293" "00324497" "05684" "00374715" "00198" "00374716" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00344, 03624, 04293, 05499, 05550, 05684 ## Count = 18 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Vision/Other}}" "{{Phenotype/Vision/Problems}}" "{{Phenotype/Development/Motor_skills}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/MRI/brain}}" "{{Phenotype/Eye/OCT}}" "{{Phenotype/Vision/Field}}" "{{Phenotype/Vision/Acuity}}" "{{Phenotype/Vision/Optic_nerve/Hypoplasia}}" "{{Phenotype/Vision/Colour}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Habits}}" "{{Phenotype/Histology}}" "{{Phenotype/Diagnosis/Criteria}}" "0000034688" "04270" "00047314" "00006" "Isolated (sporadic)" "" "see paper; developmental delay, refractory epilepsy, prolonged survival, no evidence of mitochondrial or peroxisomal dysfunction (blood and urine); EEG nonspecific, background slowing with frequent epileptiform activity rontal and central head regions; EM skeletal muscle showed subtle, nonspecific abnormalities of cristal organization; confocal microscopy of patient fibroblasts showed striking hyperfusion mitochondrial network, ..." "00y06m" "" "" "" "" "" "" "not meeting expected motor milestones" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054295" "03624" "00074478" "01470" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060611" "03624" "00081042" "01758" "Isolated (sporadic)" "" "Encephalopahty, lethal, due to defective m peroxisomal fission (OMIM:614388)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078998" "03624" "00100785" "00006" "Isolated (sporadic)" "" "see paper; microcephaly (HP:0000252), abnormal brain development (HP:0012443), optic atrophy (HP:0000648), optic hypoplasia (HP:0000609), persistent lactic acidemia (HP:0003128), mildly elevated plasma concentration of very-long-chain fatty acids (HP:0003455), ..." "00y00m00d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078999" "03624" "00100786" "00006" "Isolated (sporadic)" "" "see paper; chronic neurological disorder, postnatal microcephaly, developmental delay, pain insensitivity; muscle biopsy disclosed decreased respirato ry chain complex IV activity, ..." "00y06m" "" "" "" "" "" "" "developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079000" "03624" "00100787" "00006" "Familial, autosomal recessive" "" "see paper; born from twin pregnancy 2nd twin died at 21w; 36w delivered by cesarean for non-reassuring fetal heart rate, ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079001" "03624" "00100788" "00006" "Familial, autosomal recessive" "" "see paper; 37w cesarean due to fetal distress; birth profoundly hypotonic with absent respiratory effort required intubation and cardiopulmonary resuscitation for 12 minutes, ..." "<00y00m00d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079002" "00198" "00059110" "00006" "Familial, autosomal recessive" "" "see paper; infantile slowly progressive neurological impairment, ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079003" "00344" "00100789" "00006" "Isolated (sporadic)" "04y" "see paper; partial status epilepticus characterized by right hemibody clonus and impaired consciousness 2w following Diptheria, Tetanus, and Pertussis (DTaP) booster, ..." "04y" "" "" "" "" "" "" "partial status epilepticus" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079004" "00344" "00100790" "00006" "Isolated (sporadic)" "" "see paper; 5y-healthy typically developing, except mild expressive speech delay (dysarthria), presented suddenly with focal status epilepticus/encephalopathy after minor head trauma (collision with other child) without loss of consciousness and normal head CT, ..." "" "" "" "" "" "" "" "mild expressive speech delay" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079005" "00344" "00100791" "00006" "Isolated (sporadic)" "" "see paper; born at term; normal development until 5m when developed seizures, developmental regression, MRI brain revealed progressive volume loss, demyelination; 14m-global developmental delay, hypotonia, status epilepticus; 5y-died from severe status epilepticus with respiratory failure; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079006" "00344" "00100792" "00006" "Isolated (sporadic)" "" "see paper; born 37w3d, pregnancy\r\ncomplicated by intrauterine growth restriction, hydrocephalus; 4d persistent lactic acidosis; died 10 m from pneumonia; ...." "00y00m04d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000166520" "03624" "00218065" "03183" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "EMPF-1" "" "" "" "" "0000166521" "03624" "00218066" "03183" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "EMPF-1" "" "" "" "" "0000166522" "03624" "00218067" "03183" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "EMPF-1" "" "" "" "" "0000243040" "05684" "00324497" "00091" "Familial, autosomal dominant" "58y" "Optic atrophy (HP:0000648); Reduced OCT-measured macular thickness (HP:0030607); Childhood onset (HP:0011463); Severe (HP:0012828)" "03y?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000269925" "00198" "00374715" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "" "" "0000269926" "00198" "00374716" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000047412" "00047314" "1" "01378" "01378" "2015-08-19 17:08:26" "" "" "SEQ-NG-I" "DNA" "" "" "0000059077" "00059110" "1" "00095" "00095" "2016-02-23 11:11:06" "00006" "2017-03-10 12:20:35" "RT-PCR;SEQ-NG" "DNA;RNA" "RNA fibroblasts Pat1" "" "0000074642" "00074478" "1" "01470" "01470" "2016-07-04 09:27:33" "" "" "SEQ-NG" "DNA" "Blood" "" "0000081154" "00081042" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000101207" "00100785" "1" "00006" "00006" "2017-03-10 10:35:41" "" "" "SEQ" "DNA" "" "" "0000101208" "00100786" "1" "00006" "00006" "2017-03-10 11:07:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000101209" "00100787" "1" "00006" "00006" "2017-03-10 11:22:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000101210" "00100788" "1" "00006" "00006" "2017-03-10 11:22:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000101211" "00100789" "1" "00006" "00006" "2017-03-10 11:58:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000101212" "00100790" "1" "00006" "00006" "2017-03-10 12:13:48" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000101213" "00100791" "1" "00006" "00006" "2017-03-10 12:31:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000101214" "00100792" "1" "00006" "00006" "2017-03-10 12:43:04" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000219135" "00218065" "1" "03183" "03183" "2019-01-21 12:43:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000219136" "00218066" "1" "03183" "03183" "2019-01-21 13:06:08" "" "" "SEQ-NG-I" "DNA" "" "" "0000219137" "00218067" "1" "03183" "03183" "2019-01-21 13:14:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000325688" "00324497" "1" "00091" "00091" "2020-12-16 12:29:36" "" "" "SEQ-NG" "DNA" "Blood" "" "0000375909" "00374715" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375910" "00374716" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{geneid}}" "0000047412" "DNM1L" "0000059077" "DNM1L" "0000074642" "DNM1L" "0000081154" "DNM1L" "0000101207" "DNM1L" "0000101208" "DNM1L" "0000101209" "DNM1L" "0000101210" "DNM1L" "0000101211" "DNM1L" "0000101212" "DNM1L" "0000101213" "DNM1L" "0000101214" "DNM1L" "0000101214" "PDHA1" "0000219135" "DNM1L" "0000219136" "DNM1L" "0000219137" "DNM1L" "0000325688" "DNM1L" "0000325688" "OPA1" "0000375909" "DNM1L" "0000375910" "DNM1L" ## 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 = 50 "{{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}}" "0000076100" "0" "90" "12" "32883953" "32883953" "subst" "0" "01378" "DNM1L_000001" "g.32883953G>A" "" "{PMID:Vanstone 2016:26604000}, {DOI:Vanstone 2016:10.1038/ejhg.2015.243}, {OMIM603850:0002}" "" "" "changes conserved residue in middle (oligomerization) domain of protein" "De novo" "-" "rs879255685" "0" "" "" "g.32731019G>A" "" "pathogenic" "" "0000089876" "21" "90" "12" "32854352" "32854352" "subst" "0" "00095" "DNM1L_000002" "g.32854352A>G" "" "{PMID:Nasca 2016:27328748}, {DOI:Nasca 2016:10.1002/humu.23033}, {OMIM603850:0007}" "" "" "" "Germline" "yes" "rs879255688" "0" "" "" "g.32701418A>G" "" "pathogenic" "" "0000089877" "11" "90" "12" "32861135" "32861136" "del" "0.0000448624" "00095" "DNM1L_000003" "g.32861135_32861136del" "" "{PMID:Nasca 2016:27328748}, {DOI:Nasca 2016:10.1002/humu.23033}, {OMIM603850:0005}" "" "346_347delGA" "mRNA expression strongly reduced" "Germline" "yes" "rs879255687" "0" "" "" "g.32708201_32708202del" "" "pathogenic" "" "0000119447" "0" "70" "12" "32884426" "32884426" "subst" "0" "01470" "DNM1L_000004" "g.32884426G>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.32731492G>T" "" "likely pathogenic" "" "0000130240" "0" "70" "12" "32866293" "32866293" "subst" "0" "01758" "DNM1L_000005" "g.32866293G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.32713359G>A" "" "likely pathogenic" "ACMG" "0000163712" "0" "90" "12" "32884052" "32884052" "subst" "0" "00006" "DNM1L_000006" "g.32884052C>A" "" "{PMID:Waterham 2007:17460227}, {DOI:Waterham 2007:10.1056/NEJMoa064436}, {OMIM603850:0001}" "Hpy188I+" "" "variant not in 400 control chromosomes" "De novo" "yes" "rs121908531" "0" "" "" "g.32731118C>A" "" "pathogenic" "" "0000163713" "0" "90" "12" "32884052" "32884052" "subst" "0" "00006" "DNM1L_000006" "g.32884052C>A" "" "{PMID:Waterham 2007:17460227}, {DOI:Waterham 2007:10.1056/NEJMoa064436}, {OMIM603850:0001}" "" "" "control fibroblast cDNA overexpression cloning induced aberrant mitochondrial and peroxisomal phenotypes" "In vitro (cloned)" "-" "" "0" "" "" "g.32731118C>A" "" "NA" "" "0000163714" "0" "90" "12" "32883952" "32883952" "subst" "0" "00006" "DNM1L_000007" "g.32883952G>A" "" "{PMID:Sheffer 2016:26992161}, {DOI:Sheffer 2016:10.1002/ajmg.a.37624}, {OMIM603850:0003}" "" "" "" "De novo" "-" "rs886037861" "0" "" "" "g.32731018G>A" "" "pathogenic" "" "0000163715" "0" "90" "12" "32883952" "32883952" "subst" "0" "00006" "DNM1L_000007" "g.32883952G>A" "" "{PMID:Sheffer 2016:26992161}, {DOI:Sheffer 2016:10.1002/ajmg.a.37624}, {OMIM603850:0003}" "" "" "control fibroblast cDNA overexpression cloning induced significantly altered mitochondrial morphology" "In vitro (cloned)" "-" "rs886037861" "0" "" "" "g.32731018G>A" "" "NA" "" "0000163716" "11" "90" "12" "32858769" "32858769" "dup" "0" "00006" "DNM1L_000008" "g.32858769dup" "" "{PMID:Yoon 2016:26825290}, {DOI:Yoon 2016:10.1016/j.jpeds.2015.12.060}, {OMIM603850:0004}" "" "NM_001278464.1:c.261dup (Trp88Metfs*9)" "immunofluorescence studies of the sural nerve revealed absent DNM1L protein" "Germline" "yes" "rs879255686" "0" "" "" "g.32705835dup" "" "pathogenic" "" "0000163717" "21" "90" "12" "32861135" "32861136" "del" "0.0000448624" "00006" "DNM1L_000003" "g.32861135_32861136del" "" "{PMID:Yoon 2016:26825290}, {DOI:Yoon 2016:10.1016/j.jpeds.2015.12.060}, {OMIM603850:0005}" "" "NM_001278464.1:c.385_386del (Glu129Lys*6)" "" "Germline" "yes" "rs879255687" "0" "" "" "g.32708201_32708202del" "" "pathogenic" "" "0000163718" "11" "90" "12" "32858769" "32858769" "dup" "0" "00006" "DNM1L_000008" "g.32858769dup" "" "{PMID:Yoon 2016:26825290}, {DOI:Yoon 2016:10.1016/j.jpeds.2015.12.060}, {OMIM603850:0004}" "" "NM_001278464.1:c.261dup (Trp88Metfs*9)" "immunofluorescence studies of the sural nerve revealed absent DNM1L protein" "Germline" "yes" "rs879255686" "0" "" "" "g.32705835dup" "" "pathogenic" "" "0000163719" "21" "90" "12" "32861135" "32861136" "del" "0.0000448624" "00006" "DNM1L_000003" "g.32861135_32861136del" "" "{PMID:Yoon 2016:26825290}, {DOI:Yoon 2016:10.1016/j.jpeds.2015.12.060}, {OMIM603850:0005}" "" "NM_001278464.1:c.385_386del (Glu129Lys*6)" "" "Germline" "yes" "rs879255687" "0" "" "" "g.32708201_32708202del" "" "pathogenic" "" "0000163720" "0" "90" "12" "32884296" "32884296" "subst" "0" "00006" "DNM1L_000009" "g.32884296C>T" "" "{PMID:Fahrner 2016:27145208}, {DOI:Fahrner 2016:10.1002/ajmg.a.37721}, {OMIM603850:0006}" "" "" "" "De novo" "-" "rs863223953" "0" "" "" "g.32731362C>T" "" "pathogenic" "" "0000163721" "0" "90" "12" "32884296" "32884296" "subst" "0" "00006" "DNM1L_000009" "g.32884296C>T" "" "{PMID:Fahrner 2016:27145208}, {DOI:Fahrner 2016:10.1002/ajmg.a.37721}, {OMIM603850:0006}" "" "" "mouse embryonic fibroblasts cDNA expression dear8LOVcloning reduces shows reduced oligomerization, mitochondrial fission activity and mitochondrial recruitment of DRP1 (to lesser extent as A395D)" "In vitro (cloned)" "-" "rs863223953" "0" "" "" "g.32731362C>T" "" "NA" "" "0000163722" "0" "90" "12" "32884052" "32884052" "subst" "0" "00006" "DNM1L_000006" "g.32884052C>A" "" "{PMID:Fahrner 2016:27145208}, {DOI:Fahrner 2016:10.1002/ajmg.a.37721}" "" "A395D" "mouse embryonic fibroblasts cDNA expression cloning reduces shows reduced oligomerization, mitochondrial fission activity and mitochondrial recruitment of DRP1 (stronger effect compared to R403C)" "In vitro (cloned)" "-" "rs121908531" "0" "" "" "g.32731118C>A" "" "NA" "" "0000163723" "0" "90" "12" "32884296" "32884296" "subst" "0" "00006" "DNM1L_000009" "g.32884296C>T" "" "{PMID:Fahrner 2016:27145208}, {DOI:Fahrner 2016:10.1002/ajmg.a.37721}, {OMIM603850:0006}" "" "" "" "De novo" "-" "rs863223953" "0" "" "" "g.32731362C>T" "" "pathogenic" "" "0000163724" "21" "90" "12" "32875536" "32875536" "subst" "0" "00006" "DNM1L_000010" "g.32875536G>A" "" "{PMID:Chao 2016:26931468}, {DOI:Chao 2016:10.1093/hmg/ddw059}, {OMIM603850:0008}" "" "" "maternal mosaicism (0.06-0.08)" "De novo" "-" "rs879255689" "0" "" "" "g.32722602G>A" "" "pathogenic" "" "0000163725" "0" "90" "12" "32884003" "32884003" "subst" "0" "00006" "DNM1L_000011" "g.32884003G>A" "" "{PMID:Chao 2016:26931468}, {DOI:Chao 2016:10.1093/hmg/ddw059}" "" "" "" "De novo" "-" "" "0" "" "" "g.32731069G>A" "" "pathogenic" "" "0000163727" "0" "90" "12" "32875536" "32875536" "subst" "0" "00006" "DNM1L_000010" "g.32875536G>A" "" "{PMID:Chao 2016:26931468}, {DOI:Chao 2016:10.1093/hmg/ddw059}" "" "" "cDNA expression cloning in Drosiphila failed to rescue Drp1 lethality and over-expression in normal cells showed dominant-negative effect with increased peroxisomal size, altered cellular distribution, decreased total peroxisome numbers per cell, abnormal mitochondrial morphology, abnormal mitochondrial trafficking" "In vitro (cloned)" "-" "" "0" "" "" "g.32722602G>A" "" "NA" "" "0000163728" "0" "90" "12" "32884052" "32884052" "subst" "0" "00006" "DNM1L_000006" "g.32884052C>A" "" "{PMID:Chao 2016:26931468}, {DOI:Chao 2016:10.1093/hmg/ddw059}" "" "" "cDNA expression cloning in Drosiphila failed to rescue Drp1 lethality and over-expression in normal cells showed dominant-negative effect with increased peroxisomal size, altered cellular distribution, decreased total peroxisome numbers per cell, abnormal mitochondrial morphology, abnormal mitochondrial trafficking" "In vitro (cloned)" "-" "" "0" "" "" "g.32731118C>A" "" "NA" "" "0000163729" "0" "50" "12" "32884003" "32884003" "subst" "0" "00006" "DNM1L_000011" "g.32884003G>A" "" "{PMID:Chao 2016:26931468}, {DOI:Chao 2016:10.1093/hmg/ddw059}" "" "" "cDNA expression cloning in Drosiphila rescued Drp1 lethality and over-expression in normal cells did not affect organelle morphology, although it was associated with a subtle mitochondrial trafficking defect in an in vivo assay" "In vitro (cloned)" "-" "" "0" "" "" "g.32731069G>A" "" "NA" "" "0000256059" "0" "50" "12" "32875412" "32875412" "subst" "0" "01943" "DNM1L_000013" "g.32875412A>G" "" "" "" "DNM1L(NM_001278464.1):c.963A>G (p.I321M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32722478A>G" "" "VUS" "" "0000339844" "0" "10" "12" "32908518" "32908518" "subst" "0.123035" "02327" "YARS2_000003" "g.32908518G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32755584G>A" "" "benign" "" "0000453977" "0" "90" "12" "32871625" "32871625" "subst" "0" "03183" "DNM1L_000015" "g.32871625G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.32718691G>T" "" "pathogenic" "" "0000453978" "0" "90" "12" "32883977" "32883977" "subst" "0" "03183" "DNM1L_000016" "g.32883977T>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.32731043T>G" "" "pathogenic" "" "0000453979" "21" "10" "12" "32886737" "32886737" "subst" "0.0000731707" "03183" "DNM1L_000017" "g.32886737T>C" "" "" "daniela.verrigni" "" "" "Germline" "" "" "0" "" "" "g.32733803T>C" "" "benign" "" "0000547833" "0" "30" "12" "32858759" "32858759" "subst" "0.0000308781" "01804" "DNM1L_000018" "g.32858759A>G" "" "" "" "DNM1L(NM_001278464.1):c.251A>G (p.(Asp84Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32705825A>G" "" "likely benign" "" "0000547834" "0" "70" "12" "32884296" "32884296" "subst" "0" "02329" "DNM1L_000009" "g.32884296C>T" "" "" "" "DNM1L(NM_001278464.1):c.1246C>T (p.R416C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32731362C>T" "" "likely pathogenic" "" "0000547835" "0" "50" "12" "32902874" "32902874" "subst" "0.0000040625" "02327" "YARS2_000007" "g.32902874C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32749940C>T" "" "VUS" "" "0000547836" "0" "50" "12" "32908154" "32908154" "subst" "0" "02327" "YARS2_000008" "g.32908154A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32755220A>C" "" "VUS" "" "0000614099" "0" "90" "12" "32884296" "32884296" "subst" "0" "02327" "DNM1L_000009" "g.32884296C>T" "" "" "" "DNM1L(NM_001278464.1):c.1246C>T (p.R416C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32731362C>T" "" "pathogenic" "" "0000622866" "0" "30" "12" "32893124" "32893124" "subst" "0.000495472" "01943" "YARS2_000010" "g.32893124A>T" "" "" "" "DNM1L(NM_001278464.1):c.1873A>T (p.I625F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32740190A>T" "" "likely benign" "" "0000622867" "0" "30" "12" "32908274" "32908274" "subst" "0.000577593" "01943" "YARS2_000011" "g.32908274T>G" "" "" "" "YARS2(NM_001040436.2):c.535A>C (p.K179Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32755340T>G" "" "likely benign" "" "0000679494" "0" "30" "12" "32866133" "32866136" "del" "0" "01943" "DNM1L_000019" "g.32866133_32866136del" "" "" "" "DNM1L(NM_001278464.1):c.496-10_496-7delTTTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679495" "0" "30" "12" "32875454" "32875454" "subst" "0.00516679" "01943" "YARS2_000009" "g.32875454C>T" "" "" "" "DNM1L(NM_001278464.1):c.1005C>T (p.Y335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679496" "0" "30" "12" "32875577" "32875577" "subst" "0.000599122" "01943" "YARS2_000013" "g.32875577A>G" "" "" "" "DNM1L(NM_001278464.1):c.1118+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679497" "0" "50" "12" "32883961" "32883961" "subst" "0" "01943" "YARS2_000014" "g.32883961A>G" "" "" "" "DNM1L(NM_001278464.1):c.1132A>G (p.R378G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000708826" "0" "77" "12" "32861094" "32861094" "subst" "0.000266479" "00091" "DNM1L_000020" "g.32861094C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000724005" "0" "30" "12" "32875468" "32875468" "subst" "0" "01943" "YARS2_000015" "g.32875468A>C" "" "" "" "DNM1L(NM_001278464.1):c.1019A>C (p.D340A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724006" "0" "90" "12" "32906978" "32906981" "del" "0" "02327" "YARS2_000016" "g.32906978_32906981del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724007" "0" "50" "12" "32908237" "32908237" "subst" "0.122929" "02327" "YARS2_000002" "g.32908237C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000787260" "0" "50" "12" "32891231" "32891231" "subst" "0" "00006" "DNM1L_000021" "g.32891231G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.32738297G>A" "" "VUS" "" "0000787261" "0" "50" "12" "32893139" "32893139" "subst" "0.00000812222" "00006" "DNM1L_000022" "g.32893139C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "c.1849C>T" "" "Germline" "" "rs753979883" "0" "" "" "g.32740205C>T" "" "VUS" "" "0000805692" "0" "30" "12" "32873724" "32873724" "subst" "0.0000121989" "01943" "YARS2_000017" "g.32873724A>G" "" "" "" "DNM1L(NM_001278464.1):c.906A>G (p.L302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805693" "0" "30" "12" "32875481" "32875481" "subst" "0" "01943" "YARS2_000018" "g.32875481T>C" "" "" "" "DNM1L(NM_001278464.1):c.1032T>C (p.A344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805694" "0" "30" "12" "32884358" "32884358" "subst" "0.0000121866" "01943" "YARS2_000019" "g.32884358T>A" "" "" "" "DNM1L(NM_001278464.1):c.1308T>A (p.R436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853377" "0" "50" "12" "32886737" "32886737" "subst" "0.0000731707" "01943" "DNM1L_000017" "g.32886737T>C" "" "" "" "DNM1L(NM_001278464.1):c.1574T>C (p.I525T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853378" "0" "30" "12" "32906869" "32906869" "subst" "0.000881297" "02326" "YARS2_000021" "g.32906869C>T" "" "" "" "YARS2(NM_001040436.3):c.930G>A (p.P310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862962" "0" "90" "12" "32902875" "32902875" "subst" "0.00000812434" "01943" "YARS2_000020" "g.32902875G>A" "" "" "" "YARS2(NM_001040436.2):c.1270C>T (p.R424*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 DNM1L ## Count = 50 "{{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}}" "0000076100" "00025380" "90" "1124" "0" "1124" "0" "c.1124G>A" "r.(?)" "p.(Gly375Asp)" "" "0000089876" "00025380" "90" "106" "0" "106" "0" "c.106A>G" "r.(?)" "p.(Ser36Gly)" "" "0000089877" "00025380" "90" "385" "0" "386" "0" "c.385_386del" "r.(?)" "p.(Glu129Lysfs*6)" "" "0000119447" "00025380" "70" "1376" "0" "1376" "0" "c.1376G>T" "r.(?)" "p.(Cys459Phe)" "" "0000130240" "00025380" "70" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Val216Ile)" "" "0000163712" "00025380" "90" "1223" "0" "1223" "0" "c.1223C>A" "r.(?)" "p.(Ala408Asp)" "" "0000163713" "00025380" "90" "1223" "0" "1223" "0" "c.1223C>A" "r.(?)" "p.(Ala408Asp)" "" "0000163714" "00025380" "90" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Gly375Ser)" "" "0000163715" "00025380" "90" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Gly375Ser)" "" "0000163716" "00025380" "90" "261" "0" "261" "0" "c.261dup" "r.(?)" "p.(Trp88Metfs*9)" "" "0000163717" "00025380" "90" "385" "0" "386" "0" "c.385_386del" "r.(?)" "p.(Glu129Lysfs*6)" "" "0000163718" "00025380" "90" "261" "0" "261" "0" "c.261dup" "r.(?)" "p.(Trp88Metfs*9)" "" "0000163719" "00025380" "90" "385" "0" "386" "0" "c.385_386del" "r.(?)" "p.(Glu129Lysfs*6)" "" "0000163720" "00025380" "90" "1246" "0" "1246" "0" "c.1246C>T" "r.(?)" "p.(Arg416Cys)" "" "0000163721" "00025380" "90" "1246" "0" "1246" "0" "c.1246C>T" "r.(?)" "p.(Arg416Cys)" "" "0000163722" "00025380" "90" "1223" "0" "1223" "0" "c.1223C>A" "r.(?)" "p.(Ala408Asp)" "" "0000163723" "00025380" "90" "1246" "0" "1246" "0" "c.1246C>T" "r.(?)" "p.(Arg416Cys)" "" "0000163724" "00025380" "90" "1087" "0" "1087" "0" "c.1087G>A" "r.(?)" "p.(Gly363Arg)" "" "0000163725" "00025380" "90" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Glu392Lys)" "" "0000163727" "00025380" "90" "1087" "0" "1087" "0" "c.1087G>A" "r.(?)" "p.(Gly363Arg)" "" "0000163728" "00025380" "90" "1223" "0" "1223" "0" "c.1223C>A" "r.(?)" "p.(Ala408Asp)" "" "0000163729" "00025380" "50" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Glu392Lys)" "" "0000256059" "00025380" "50" "963" "0" "963" "0" "c.963A>G" "r.(?)" "p.(Ile321Met)" "" "0000339844" "00025380" "10" "14424" "0" "14424" "0" "c.*12174G>A" "r.(=)" "p.(=)" "" "0000453977" "00025380" "90" "707" "0" "707" "0" "c.707G>T" "r.(?)" "p.(Gly236Val)" "" "0000453978" "00025380" "90" "1148" "0" "1148" "0" "c.1148T>G" "r.(?)" "p.(Phe383Cys)" "" "0000453979" "00025380" "10" "1574" "0" "1574" "0" "c.1574T>C" "r.(?)" "p.(Ile525Thr)" "" "0000547833" "00025380" "30" "251" "0" "251" "0" "c.251A>G" "r.(?)" "p.(Asp84Gly)" "" "0000547834" "00025380" "70" "1246" "0" "1246" "0" "c.1246C>T" "r.(?)" "p.(Arg416Cys)" "" "0000547835" "00025380" "50" "8780" "0" "8780" "0" "c.*6530C>T" "r.(=)" "p.(=)" "" "0000547836" "00025380" "50" "14060" "0" "14060" "0" "c.*11810A>C" "r.(=)" "p.(=)" "" "0000614099" "00025380" "90" "1246" "0" "1246" "0" "c.1246C>T" "r.(?)" "p.(Arg416Cys)" "" "0000622866" "00025380" "30" "1873" "0" "1873" "0" "c.1873A>T" "r.(?)" "p.(Ile625Phe)" "" "0000622867" "00025380" "30" "14180" "0" "14180" "0" "c.*11930T>G" "r.(=)" "p.(=)" "" "0000679494" "00025380" "30" "496" "-10" "496" "-7" "c.496-10_496-7del" "r.(=)" "p.(=)" "" "0000679495" "00025380" "30" "1005" "0" "1005" "0" "c.1005C>T" "r.(?)" "p.(Tyr335=)" "" "0000679496" "00025380" "30" "1118" "10" "1118" "10" "c.1118+10A>G" "r.(=)" "p.(=)" "" "0000679497" "00025380" "50" "1132" "0" "1132" "0" "c.1132A>G" "r.(?)" "p.(Arg378Gly)" "" "0000708826" "00025380" "77" "344" "0" "344" "0" "c.344C>T" "r.(?)" "p.(Thr115Met)" "" "0000724005" "00025380" "30" "1019" "0" "1019" "0" "c.1019A>C" "r.(?)" "p.(Asp340Ala)" "" "0000724006" "00025380" "90" "12884" "0" "12887" "0" "c.*10634_*10637del" "r.(=)" "p.(=)" "" "0000724007" "00025380" "50" "14143" "0" "14143" "0" "c.*11893C>A" "r.(=)" "p.(=)" "" "0000787260" "00025380" "50" "1707" "1" "1707" "1" "c.1707+1G>A" "r.spl" "p.?" "16i" "0000787261" "00025380" "50" "1888" "0" "1888" "0" "c.1888C>T" "r.(?)" "p.(Pro630Ser)" "17" "0000805692" "00025380" "30" "906" "0" "906" "0" "c.906A>G" "r.(?)" "p.(Leu302=)" "" "0000805693" "00025380" "30" "1032" "0" "1032" "0" "c.1032T>C" "r.(?)" "p.(Ala344=)" "" "0000805694" "00025380" "30" "1308" "0" "1308" "0" "c.1308T>A" "r.(?)" "p.(Arg436=)" "" "0000853377" "00025380" "50" "1574" "0" "1574" "0" "c.1574T>C" "r.(?)" "p.(Ile525Thr)" "" "0000853378" "00025380" "30" "12775" "0" "12775" "0" "c.*10525C>T" "r.(=)" "p.(=)" "" "0000862962" "00025380" "90" "8781" "0" "8781" "0" "c.*6531G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000047412" "0000076100" "0000059077" "0000089876" "0000059077" "0000089877" "0000074642" "0000119447" "0000081154" "0000130240" "0000101207" "0000163712" "0000101208" "0000163714" "0000101209" "0000163716" "0000101209" "0000163717" "0000101210" "0000163718" "0000101210" "0000163719" "0000101211" "0000163720" "0000101212" "0000163723" "0000101213" "0000163724" "0000101214" "0000163725" "0000219135" "0000453977" "0000219136" "0000453978" "0000219137" "0000453979" "0000325688" "0000708826" "0000375909" "0000787260" "0000375910" "0000787261"