### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MLIP) # 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}}" "MLIP" "muscular LMNA-interacting protein" "6" "p12.2-p12.1" "unknown" "NC_000006.11" "UD_132464854339" "" "https://www.LOVD.nl/MLIP" "" "1" "21355" "90523" "614106" "1" "1" "1" "1" "MAINEtranscript NM_001281747.2\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/MLIP_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2023-01-19 16:58:57" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00000915" "MLIP" "muscular LMNA-interacting protein" "001" "NM_138569.2" "" "NP_612636.2" "" "" "" "-113" "1702" "1377" "53883714" "54131078" "00000" "2012-09-13 12:58:50" "" "" "00025793" "MLIP" "transcript variant 1" "000" "NM_001281747.2" "" "NP_001268676.1" "" "" "" "-37" "3307" "2982" "53976241" "54131078" "00006" "2023-01-19 17:00:54" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06997" "MMCKR" "myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis" "AR" "620138" "" "myopathy, myalgia, increased serum creatine kinase, with/without episodic rhabdomyolysis" "" "00006" "2023-01-19 15:25:33" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MLIP" "00244" "MLIP" "06997" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00430376" "" "" "" "1" "" "00006" "{PMID:Lopes Abath Neto 2021:34581780}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Egypt" "" "0" "" "" "" "Pat1" "00430377" "" "" "" "1" "" "00006" "{PMID:Lopes Abath Neto 2021:34581780}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Japan" "" "0" "" "" "" "Pat2" "00430378" "" "" "" "1" "" "00006" "{PMID:Lopes Abath Neto 2021:34581780}" "adopted" "F" "" "China" "" "0" "" "" "" "Pat3" "00430379" "" "" "" "1" "" "00006" "{PMID:Lopes Abath Neto 2021:34581780}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Afghanistan" "" "0" "" "" "" "Pat4" "00430380" "" "" "" "1" "" "00006" "{PMID:Lopes Abath Neto 2021:34581780}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United States" "" "0" "" "" "Ireland;Germany;Italy;American-native" "Pat5" "00430381" "" "" "" "2" "" "00006" "{PMID:Lopes Abath Neto 2021:34581780}" "2-generation family, 2 affected borthers, unaffected heterozygous carrier parents" "M" "no" "Morocco" "" "0" "" "" "" "FamPat6" "00430382" "" "" "00430381" "1" "" "00006" "{PMID:Lopes Abath Neto 2021:34581780}" "brother" "M" "no" "Morocco" "" "0" "" "" "" "FamPat7" "00430383" "" "" "" "1" "" "00006" "{PMID:Salzer-Sheelo 2022:34935254}" "6-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "Fam1Pat1" "00430384" "" "" "" "4" "" "00006" "{PMID:Salzer-Sheelo 2022:34935254}" "7-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives" "F" "yes" "United States" "" "0" "" "" "Amish" "Fam2Pat2" "00430385" "" "" "00430384" "1" "" "00006" "{PMID:Salzer-Sheelo 2022:34935254}" "brother" "M" "yes" "United States" "" "0" "" "" "Amish" "Fam2Pat3" "00430386" "" "" "00430384" "1" "" "00006" "{PMID:Salzer-Sheelo 2022:34935254}" "relative" "M" "yes" "United States" "" "0" "" "" "Amish" "Fam2Pat4" "00430387" "" "" "00430384" "1" "" "00006" "{PMID:Salzer-Sheelo 2022:34935254}" "brother relative" "M" "yes" "United States" "" "0" "" "" "Amish" "Fam2Pat5" "00430388" "" "" "" "1" "" "00006" "{PMID:Bermejo-Guerrero 2022:35915960}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Spain" "" "0" "" "" "" "patient" "00430389" "" "" "" "1" "" "00006" "{PMID:Mezreani 2022:35672413}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Canada" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00430376" "00244" "00430377" "00244" "00430378" "00244" "00430379" "00244" "00430380" "00244" "00430381" "00244" "00430382" "00244" "00430383" "00244" "00430384" "00244" "00430385" "00244" "00430386" "00244" "00430387" "00244" "00430388" "00244" "00430389" "00244" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00244, 01157, 06997 ## Count = 15 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "0000321173" "00244" "00430376" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., muscle cramping, rhabdomyolysis; no apparent triggers; CK 500-4000 U/l, highest 200000; MRI muscle subtle STIR hyperintensity on vastus lateralis" "3y" "" "" "" "" "" "" "MMCKR" "myopathy" "0000321174" "00244" "00430377" "00006" "Familial, autosomal recessive" "9y" "see paper; ..., myalgia on exertion, rhabdomyolysis; no apparent triggers; CK 2000 U/l, highest 4810; MRI muscle mild hyperintensity in bilateral gastrocnemius muscles" "2y" "" "" "" "" "" "" "MMCKR" "myopathy" "0000321175" "00244" "00430378" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., muscle cramping and stiffness on exertion, rhabdomyolysis; no apparent triggers; CK 500-3000 U/l, highest 32000; MRI muscle mild atrophy of quadratus femoris, subtle TIRM hyperintensities in the vastus lateralis" "7y" "" "" "" "" "" "" "MMCKR" "myopathy" "0000321176" "00244" "00430379" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., recurrent muscle pain and tenderness on exertion; no overt CK spikes; CK 2000-3000 U/l, highest 5000;" "2y" "" "" "" "" "" "" "MMCKR" "myopathy" "0000321177" "00244" "00430380" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., recurrent thigh pain (quadriceps) relieved by rest; no overt rhabdomyolysis; CK 297 U/l, highest 9348; MRI muscle normal" "2y6m" "" "" "" "" "" "" "MMCKR" "myopathy" "0000321178" "00244" "00430381" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., myalgia and severe episodes of rhabdomyolysis; trigger mild exercise, muscle overuse; CK 1287 U/l, highest 60000; MRI muscle normal" "8m" "" "" "" "" "" "" "MMCKR" "myopathy" "0000321179" "00244" "00430382" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., myalgia and severe episodes of rhabdomyolysis; trigger tantrums, cold, mild exercise; CK 2325 U/l, highest 30000; MRI muscle normal" "19m" "" "" "" "" "" "" "MMCKR" "myopathy" "0000321180" "00244" "00430383" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., early fatigue after mild-to-moderate physical exertion, exertion-induced myalgia; ECG normal; CK 6600-16,000 U/L" "" "" "" "" "" "" "" "MMCKR" "myopathy" "0000321181" "00244" "00430384" "00006" "Familial, autosomal recessive" "35y" "sinus arrhythmia" "" "" "" "" "" "" "" "MMCKR" "myopathy" "0000321182" "00244" "00430385" "00006" "Familial, autosomal recessive" "24y" "sinus arrhythmia; CK 9330 U/L" "" "" "" "" "" "" "" "MMCKR" "myopathy" "0000321183" "00244" "00430386" "00006" "Familial, autosomal recessive" "60y" "sinus bradycardia; ; ECG abnormal; left ventricular hypertrophy; CK 8410 U/L" "" "" "" "" "" "" "" "MMCKR" "myopathy" "0000321184" "00244" "00430387" "00006" "Familial, autosomal recessive" "67y" "sinus bradycardia; CK 15,150 U/L" "" "" "" "" "" "" "" "MMCKR" "myopathy" "0000321185" "00244" "00430388" "00006" "Familial, autosomal recessive" "80y" "see paper; ..., late-onset progressive weakness" "" "" "" "" "" "" "" "MMCKR" "myopathy" "0000321186" "00244" "00430389" "00006" "Familial, autosomal recessive" "60y" "see paper; ..., myopathy, muscle weakness, hyperCKemia" "" "" "" "" "" "" "" "MMCKR" "myopathy" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000431785" "00430376" "1" "00006" "00006" "2023-01-19 17:29:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000431786" "00430377" "1" "00006" "00006" "2023-01-19 17:29:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000431787" "00430378" "1" "00006" "00006" "2023-01-19 17:29:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000431788" "00430379" "1" "00006" "00006" "2023-01-19 17:29:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000431789" "00430380" "1" "00006" "00006" "2023-01-19 17:29:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000431790" "00430381" "1" "00006" "00006" "2023-01-19 17:29:53" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000431791" "00430382" "1" "00006" "00006" "2023-01-19 17:29:53" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000431792" "00430383" "1" "00006" "00006" "2023-01-19 19:10:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000431793" "00430384" "1" "00006" "00006" "2023-01-19 19:10:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000431794" "00430385" "1" "00006" "00006" "2023-01-19 19:10:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000431795" "00430386" "1" "00006" "00006" "2023-01-19 19:10:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000431796" "00430387" "1" "00006" "00006" "2023-01-19 19:10:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000431797" "00430388" "1" "00006" "00006" "2023-01-19 19:46:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000431798" "00430389" "1" "00006" "00006" "2023-01-19 19:58:16" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES, RNA-seq" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 21 "{{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}}" "0000012314" "3" "50" "6" "54046039" "54046039" "subst" "0" "00037" "MLIP_000001" "g.54046039T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54181241T>C" "" "VUS" "" "0000917072" "3" "90" "6" "54002606" "54002606" "del" "0" "00006" "MLIP_000006" "g.54002606del" "" "{PMID:Lopes Abath Neto 2021:34581780}" "" "NM_001281746.2:c.1706delA" "" "Germline" "" "" "0" "" "" "g.54137808del" "" "pathogenic (recessive)" "" "0000917073" "21" "90" "6" "54002699" "54002699" "del" "0" "00006" "MLIP_000007" "g.54002699del" "" "{PMID:Lopes Abath Neto 2021:34581780}" "" "NM_001281746.2:c.1799delT" "" "Germline" "" "" "0" "" "" "g.54137901del" "" "pathogenic (recessive)" "" "0000917074" "3" "90" "6" "53989646" "53989646" "subst" "0" "00006" "MLIP_000004" "g.53989646C>T" "" "{PMID:Lopes Abath Neto 2021:34581780}" "" "NM_001281746.2:c.595C>T" "" "Germline" "" "" "0" "" "" "g.54124848C>T" "" "pathogenic (recessive)" "" "0000917075" "3" "90" "6" "54034356" "54034356" "subst" "0" "00006" "MLIP_000009" "g.54034356C>T" "" "{PMID:Lopes Abath Neto 2021:34581780}" "" "NM_001281746.2:c.2497C>T" "" "Germline" "" "" "0" "" "" "g.54169558C>T" "" "pathogenic (recessive)" "" "0000917076" "11" "90" "6" "54025592" "54025595" "del" "0" "00006" "MLIP_000003" "g.54025592_54025595del" "" "{PMID:Lopes Abath Neto 2021:34581780}" "" "NM_001281746.2:c.2461_2464delGTCA" "" "Germline" "" "" "0" "" "" "g.54160794_54160797del" "" "pathogenic (recessive)" "" "0000917077" "3" "90" "6" "54001582" "54001582" "subst" "0" "00006" "MLIP_000005" "g.54001582A>G" "" "{PMID:Lopes Abath Neto 2021:34581780}" "" "NM_001281746.2:c.682A>G" "" "Germline" "" "" "0" "" "" "g.54136784A>G" "" "pathogenic (recessive)" "" "0000917078" "3" "90" "6" "54001582" "54001582" "subst" "0" "00006" "MLIP_000005" "g.54001582A>G" "" "{PMID:Lopes Abath Neto 2021:34581780}" "" "NM_001281746.2:c.682A>G" "" "Germline" "" "" "0" "" "" "g.54136784A>G" "" "pathogenic (recessive)" "" "0000917079" "11" "90" "6" "54025541" "54025541" "del" "0" "00006" "MLIP_000008" "g.54025541del" "" "{PMID:Lopes Abath Neto 2021:34581780}" "" "NM_001281746.2:c.2410delT" "" "Germline" "" "" "0" "" "" "g.54160743del" "" "pathogenic (recessive)" "" "0000917080" "21" "90" "6" "54054713" "54054713" "subst" "2.03644E-5" "00006" "MLIP_000002" "g.54054713G>A" "" "{PMID:Lopes Abath Neto 2021:34581780}" "" "NM_001281746.2:c.2556+1G>A" "" "Germline" "" "" "0" "" "" "g.54189915G>A" "" "pathogenic (recessive)" "" "0000917081" "3" "90" "6" "54034356" "54034356" "subst" "0" "00006" "MLIP_000009" "g.54034356C>T" "" "{PMID:Salzer-Sheelo 2022:34935254}" "" "" "" "Germline" "" "" "0" "" "" "g.54169558C>T" "" "pathogenic (recessive)" "" "0000917082" "3" "90" "6" "54002692" "54002692" "subst" "0" "00006" "MLIP_000012" "g.54002692A>T" "" "{PMID:Salzer-Sheelo 2022:34935254}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54137894A>T" "" "pathogenic (recessive)" "" "0000917083" "3" "90" "6" "54002692" "54002692" "subst" "0" "00006" "MLIP_000012" "g.54002692A>T" "" "{PMID:Salzer-Sheelo 2022:34935254}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54137894A>T" "" "pathogenic (recessive)" "" "0000917084" "3" "90" "6" "54002692" "54002692" "subst" "0" "00006" "MLIP_000012" "g.54002692A>T" "" "{PMID:Salzer-Sheelo 2022:34935254}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54137894A>T" "" "pathogenic (recessive)" "" "0000917085" "3" "90" "6" "54002692" "54002692" "subst" "0" "00006" "MLIP_000012" "g.54002692A>T" "" "{PMID:Salzer-Sheelo 2022:34935254}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54137894A>T" "" "pathogenic (recessive)" "" "0000917086" "3" "90" "6" "54013909" "54013909" "del" "0" "00006" "MLIP_000010" "g.54013909del" "" "{PMID:Bermejo-Guerrero 2022:35915960}" "" "" "" "Germline" "" "" "0" "" "" "g.54149111del" "" "likely pathogenic (recessive)" "ACMG" "0000917087" "3" "90" "6" "54013920" "54013920" "subst" "0" "00006" "MLIP_000011" "g.54013920C>T" "" "{PMID:Mezreani 2022:35672413}" "" "" "transcript likely undergoes nonsense-mediated mRNA decay" "Germline" "" "" "0" "" "" "g.54149122C>T" "" "pathogenic (recessive)" "" "0001035851" "0" "30" "6" "54002744" "54002744" "subst" "0" "01804" "MLIP_000013" "g.54002744G>T" "" "" "" "MLIP(NM_001281747.2):c.1877G>T (p.(Arg626Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035852" "0" "30" "6" "54002966" "54002966" "subst" "0" "01804" "MLIP_000014" "g.54002966C>G" "" "" "" "MLIP(NM_001281747.2):c.2099C>G (p.(Pro700Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046070" "0" "50" "6" "53989658" "53989658" "subst" "6.46544E-5" "02327" "MLIP_000015" "g.53989658G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046071" "0" "50" "6" "54002927" "54002927" "subst" "0" "02327" "MLIP_000016" "g.54002927C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 MLIP ## Count = 36 "{{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}}" "0000012314" "00000915" "50" "940" "-8629" "940" "-8629" "c.940-8629T>C" "r.(=)" "p.(=)" "" "0000917072" "00000915" "90" "613" "-11248" "613" "-11248" "c.613-11248del" "r.spl" "p.?" "" "0000917072" "00025793" "90" "1739" "0" "1739" "0" "c.1739del" "r.(?)" "p.(His580ProfsTer7)" "" "0000917073" "00000915" "90" "613" "-11155" "613" "-11155" "c.613-11155del" "r.spl" "p.?" "" "0000917073" "00025793" "90" "1832" "0" "1832" "0" "c.1832del" "r.(?)" "p.(Phe611SerfsTer10)" "" "0000917074" "00000915" "90" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Gln199Ter)" "" "0000917074" "00025793" "90" "628" "0" "628" "0" "c.628C>T" "r.(?)" "p.(Gln210Ter)" "" "0000917075" "00000915" "90" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309Ter)" "" "0000917075" "00025793" "90" "2530" "0" "2530" "0" "c.2530C>T" "r.(?)" "p.(Arg844Ter)" "" "0000917076" "00000915" "90" "889" "0" "892" "0" "c.889_892del" "r.(?)" "p.(Val297LysfsTer31)" "" "0000917076" "00025793" "90" "2494" "0" "2497" "0" "c.2494_2497del" "r.(?)" "p.(Val832LysfsTer31)" "" "0000917077" "00000915" "90" "612" "11919" "612" "11919" "c.612+11919A>G" "r.spl" "p.?" "" "0000917077" "00025793" "90" "715" "0" "715" "0" "c.715A>G" "r.646_715del" "p.Thr217IlefsTer17" "" "0000917078" "00000915" "90" "612" "11919" "612" "11919" "c.612+11919A>G" "r.spl" "p.?" "" "0000917078" "00025793" "90" "715" "0" "715" "0" "c.715A>G" "r.646_715del" "p.Thr217IlefsTer17" "" "0000917079" "00000915" "90" "838" "0" "838" "0" "c.838del" "r.(?)" "p.(Ser280Leufs*49)" "" "0000917079" "00025793" "90" "2443" "0" "2443" "0" "c.2443del" "r.(?)" "p.(Ser815LeufsTer49)" "" "0000917080" "00000915" "90" "984" "1" "984" "1" "c.984+1G>A" "r.spl" "p.?" "" "0000917080" "00025793" "90" "2589" "1" "2589" "1" "c.2589+1G>A" "r.spl" "p.?" "" "0000917081" "00025793" "90" "2530" "0" "2530" "0" "c.2530C>T" "r.(?)" "p.(Arg844Ter)" "" "0000917082" "00025793" "90" "1825" "0" "1825" "0" "c.1825A>T" "r.(?)" "p.(Lys609Ter)" "" "0000917083" "00025793" "90" "1825" "0" "1825" "0" "c.1825A>T" "r.(?)" "p.(Lys609Ter)" "" "0000917084" "00025793" "90" "1825" "0" "1825" "0" "c.1825A>T" "r.(?)" "p.(Lys609Ter)" "" "0000917085" "00025793" "90" "1825" "0" "1825" "0" "c.1825A>T" "r.(?)" "p.(Lys609Ter)" "" "0000917086" "00000915" "90" "668" "0" "668" "0" "c.668del" "r.(?)" "p.(Leu223CysfsTer8)" "" "0000917086" "00025793" "90" "2273" "0" "2273" "0" "c.2273del" "r.(?)" "p.(Leu758CysfsTer8)" "" "0000917087" "00000915" "90" "679" "0" "679" "0" "c.679C>T" "r.(?)" "p.(Gln227*)" "" "0000917087" "00025793" "90" "2284" "0" "2284" "0" "c.2284C>T" "r.[0,2284c>u]" "p.[0,Gln762Ter]" "" "0001035851" "00000915" "30" "613" "-11110" "613" "-11110" "c.613-11110G>T" "r.(=)" "p.(=)" "" "0001035851" "00025793" "30" "1877" "0" "1877" "0" "c.1877G>T" "r.(?)" "p.(Arg626Ile)" "" "0001035852" "00000915" "30" "613" "-10888" "613" "-10888" "c.613-10888C>G" "r.(=)" "p.(=)" "" "0001035852" "00025793" "30" "2099" "0" "2099" "0" "c.2099C>G" "r.(?)" "p.(Pro700Arg)" "" "0001046070" "00000915" "50" "607" "0" "607" "0" "c.607G>T" "r.(?)" "p.(Gly203Trp)" "" "0001046070" "00025793" "50" "640" "0" "640" "0" "c.640G>T" "r.(?)" "p.(Gly214Trp)" "" "0001046071" "00000915" "50" "613" "-10927" "613" "-10927" "c.613-10927C>A" "r.(=)" "p.(=)" "" "0001046071" "00025793" "50" "2060" "0" "2060" "0" "c.2060C>A" "r.(?)" "p.(Thr687Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000000210" "0000012314" "0000431785" "0000917072" "0000431786" "0000917073" "0000431786" "0000917079" "0000431787" "0000917074" "0000431788" "0000917075" "0000431789" "0000917076" "0000431789" "0000917080" "0000431790" "0000917077" "0000431791" "0000917078" "0000431792" "0000917081" "0000431793" "0000917082" "0000431794" "0000917083" "0000431795" "0000917084" "0000431796" "0000917085" "0000431797" "0000917086" "0000431798" "0000917087"