### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LITAF) # 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}}" "LITAF" "lipopolysaccharide-induced TNF factor" "16" "p13.3-p12" "unknown" "NG_009008.1" "UD_132085287703" "" "https://www.LOVD.nl/LITAF" "" "1" "16841" "9516" "603795" "1" "1" "1" "1" "This database is one of the gene variant databases from the:.\r\nVariants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB." "" "" "" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2012-05-23 00:00:00" "00006" "2017-12-28 09:51:40" "00000" "2025-07-08 13:22:38" ## 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}}" "00011427" "LITAF" "transcript variant 1" "004" "NM_004862.3" "" "NP_004853.2" "" "" "" "-233" "2401" "486" "11680229" "11641578" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "2024-11-23 09:38:12" "02339" "CMT1C" "Charcot-Marie-Tooth disease, type IC (CMT-1C)" "AD" "601098" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05157" "HMSN" "neuropathy, motor and sensory, hereditary (HMSN)" "" "" "" "" "" "00006" "2016-04-15 10:26:05" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LITAF" "02339" ## Individuals ## Do not remove or alter this header ## ## Count = 26 "{{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}}" "00037086" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00151871" "" "" "" "2" "" "00006" "{PMID:Saifi 2005:15776429}" "2-generation family, affected mother/daughter" "F" "no" "United States" "" "0" "" "" "" "15776429-FamHou552Pat1399" "00151872" "" "" "" "1" "" "00006" "{PMID:Latour 2006:16787513}" "" "" "" "" "" "0" "" "" "" "" "00151873" "" "" "" "26" "" "00006" "{PMID:Street 2003:12525712}" "5-generation family, 26 affecteds (11F, 15M)" "F;M" "no" "England" "" "0" "" "" "" "12525712-FamK1551" "00151874" "" "" "" "20" "" "00006" "{PMID:Street 2003:12525712}" "4-generation family, 20 affected (8F, 12M)" "F;M" "no" "Ireland" "" "0" "" "" "" "12525712-FamK1550" "00151875" "" "" "" "6" "" "00006" "{PMID:Street 2003:12525712}" "4-generation family, 6 affecteds (5F, M)" "F;M" "no" "Netherlands" "" "0" "" "" "" "125257120FamK2900" "00151876" "" "" "" "1" "" "00006" "{PMID:Saifi 2005:15776429}" "2-generation family, 1 affected" "F" "no" "United States" "" "0" "" "" "" "15776429-FamHou791Pat2104" "00151877" "" "" "" "1" "" "00006" "{PMID:Latour 2006:16787513}" "" "" "" "" "" "0" "" "" "" "" "00151878" "" "" "" "1" "" "00006" "{PMID:Latour 2006:16787513}" "" "" "" "" "" "0" "" "" "" "" "00151879" "" "" "" "1" "" "00006" "{PMID:Gerding 2009:19541485}" "" "" "" "" "" "0" "" "" "" "" "00151880" "" "" "" "6" "" "00006" "{PMID:Saifi 2005:15776429}" "3-generation family, 6 affected (3F, 3M)" "F;M" "no" "United States" "" "0" "" "" "" "15776429-FamHou537Pat1371" "00151881" "" "" "" "1" "" "00006" "{PMID:Saifi 2005:15776429}" "2-generation family, affected boy" "M" "yes" "United States" "" "0" "" "" "" "15776429-FamHou552Pat1339" "00151882" "" "" "" "1" "" "00006" "{PMID:Saifi 2005:15776429}" "4-generation family, 1 affected" "F" "no" "United States" "" "0" "" "" "" "15776429-FamHou546Pat1386" "00151883" "" "" "" "1" "" "00006" "{PMID:Saifi 2005:15776429}" "" "" "" "" "" "0" "" "" "" "" "00151884" "" "" "" "1" "" "00006" "{PMID:Saifi 2005:15776429}" "" "" "" "" "" "0" "" "" "" "" "00151885" "" "" "" "1" "" "00006" "{PMID:Saifi 2005:15776429}" "" "" "" "" "" "0" "" "" "" "" "00151886" "" "" "" "5" "" "00006" "{PMID:Saifi 2005:15776429}" "" "" "" "" "" "0" "" "" "" "" "00151887" "" "" "" "3" "" "00006" "{PMID:Saifi 2005:15776429}" "" "" "" "" "" "0" "" "" "" "" "00151888" "" "" "" "1" "" "00006" "{PMID:Saifi 2005:15776429}" "" "" "" "" "" "0" "" "" "" "" "00151889" "" "" "" "1" "" "00006" "{PMID:Saifi 2005:15776429}" "" "" "" "" "" "0" "" "" "" "" "00151890" "" "" "" "1" "" "00006" "{PMID:Saifi 2005:15776429}" "" "" "" "" "" "0" "" "" "" "" "00291354" "" "" "" "41" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00300008" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-LITAF-a" "00300136" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-LITAF-b" "00300146" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-LITAF-c" "00435114" "" "" "" "1" "" "01741" "" "" "M" "" "Germany" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00151871" "02339" "00151872" "02339" "00151873" "02339" "00151874" "02339" "00151875" "02339" "00151876" "02339" "00151877" "02339" "00151878" "02339" "00151879" "02339" "00151880" "05113" "00151881" "05113" "00151882" "05113" "00151883" "05113" "00151884" "05113" "00151885" "05113" "00151886" "05113" "00151887" "05113" "00151888" "05113" "00151889" "05113" "00151890" "05113" "00291354" "00198" "00300008" "05113" "00300136" "05113" "00300146" "05113" "00435114" "05157" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02339, 05113, 05157 ## Count = 24 "{{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}}" "0000124234" "02339" "00151871" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CMT-1C" "Charcot-Marie-Tooth disease?" "" "0000124235" "02339" "00151872" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CMT-1C" "Charcot-Marie-Tooth disease" "" "0000124236" "02339" "00151873" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CMT-1C" "Charcot-Marie-Tooth disease" "" "0000124237" "02339" "00151874" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CMT-1C" "Charcot-Marie-Tooth disease" "" "0000124238" "02339" "00151875" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CMT-1C" "Charcot-Marie-Tooth disease" "" "0000124239" "02339" "00151876" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CMT-1C" "Charcot-Marie-Tooth disease" "" "0000124240" "02339" "00151877" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CMT-1C" "Charcot-Marie-Tooth disease" "" "0000124241" "02339" "00151878" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CMT-1C" "Charcot-Marie-Tooth disease" "" "0000124242" "02339" "00151879" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CMT-1C" "Charcot-Marie-Tooth disease" "" "0000124243" "05113" "00151880" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CMT-1C" "Charcot-Marie-Tooth disease" "" "0000124244" "05113" "00151881" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CMT-1C" "Charcot-Marie-Tooth disease" "" "0000124245" "05113" "00151882" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000124246" "05113" "00151883" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000124247" "05113" "00151884" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000124248" "05113" "00151885" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000124249" "05113" "00151886" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000124250" "05113" "00151887" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000124251" "05113" "00151888" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000124252" "05113" "00151889" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000124253" "05113" "00151890" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000227329" "05113" "00300008" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227457" "05113" "00300136" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227467" "05113" "00300146" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000325347" "05157" "00435114" "01741" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 26 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037156" "00037086" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000152728" "00151871" "1" "00006" "00006" "2012-11-05 16:35:46" "" "" "SEQ" "DNA" "" "" "0000152729" "00151872" "1" "00006" "00006" "2012-11-05 16:35:46" "" "" "SEQ" "DNA" "" "" "0000152730" "00151873" "1" "00006" "00006" "2012-11-05 16:35:46" "" "" "SEQ" "DNA" "" "" "0000152731" "00151874" "1" "00006" "00006" "2012-11-05 16:35:46" "" "" "SEQ" "DNA" "" "" "0000152732" "00151875" "1" "00006" "00006" "2012-11-05 16:35:46" "" "" "SEQ" "DNA" "" "" "0000152733" "00151876" "1" "00006" "00006" "2012-11-05 16:35:46" "" "" "SEQ" "DNA" "" "" "0000152734" "00151877" "1" "00006" "00006" "2012-11-05 16:35:46" "" "" "SEQ" "DNA" "" "" "0000152735" "00151878" "1" "00006" "00006" "2012-11-05 16:35:46" "" "" "SEQ" "DNA" "" "" "0000152736" "00151879" "1" "00006" "00006" "2012-11-05 16:35:46" "" "" "SEQ" "DNA" "" "" "0000152737" "00151880" "1" "00006" "00006" "2018-01-27 18:49:39" "" "" "SEQ" "DNA" "" "" "0000152738" "00151881" "1" "00006" "00006" "2018-01-27 18:52:45" "" "" "SEQ" "DNA" "" "" "0000152739" "00151882" "1" "00006" "00006" "2018-01-27 18:57:08" "" "" "SEQ" "DNA" "" "" "0000152740" "00151883" "1" "00006" "00006" "2012-11-05 16:35:46" "" "" "SEQ" "DNA" "" "" "0000152741" "00151884" "1" "00006" "00006" "2012-11-05 16:35:46" "" "" "SEQ" "DNA" "" "" "0000152742" "00151885" "1" "00006" "00006" "2012-11-05 16:35:46" "" "" "SEQ" "DNA" "" "" "0000152743" "00151886" "1" "00006" "00006" "2012-11-05 16:35:46" "" "" "SEQ" "DNA" "" "" "0000152744" "00151887" "1" "00006" "00006" "2012-11-05 16:35:46" "" "" "SEQ" "DNA" "" "" "0000152745" "00151888" "1" "00006" "00006" "2012-11-05 16:35:46" "" "" "SEQ" "DNA" "" "" "0000152746" "00151889" "1" "00006" "00006" "2012-11-05 16:35:46" "" "" "SEQ" "DNA" "" "" "0000152747" "00151890" "1" "00006" "00006" "2012-11-05 16:35:46" "" "" "SEQ" "DNA" "" "" "0000292522" "00291354" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301124" "00300008" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301252" "00300136" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301262" "00300146" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000436586" "00435114" "1" "01741" "01741" "2023-05-14 15:19:39" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{geneid}}" "0000037156" "LITAF" "0000152728" "LITAF" "0000152729" "LITAF" "0000152730" "LITAF" "0000152731" "LITAF" "0000152732" "LITAF" "0000152733" "LITAF" "0000152734" "LITAF" "0000152735" "LITAF" "0000152736" "LITAF" "0000152737" "LITAF" "0000152738" "LITAF" "0000152739" "LITAF" "0000152740" "LITAF" "0000152741" "LITAF" "0000152742" "LITAF" "0000152743" "LITAF" "0000152744" "LITAF" "0000152745" "LITAF" "0000152746" "LITAF" "0000152747" "LITAF" "0000301124" "LITAF" "0000301252" "LITAF" "0000301262" "LITAF" "0000436586" "LITAF" ## 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 = 63 "{{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}}" "0000064281" "1" "90" "16" "11647432" "11647432" "subst" "0" "01164" "LITAF_000001" "g.11647432C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.11553576C>T" "" "pathogenic" "" "0000247369" "0" "10" "16" "11647544" "11647544" "subst" "4.07173E-6" "02330" "LITAF_000020" "g.11647544A>G" "" "" "" "LITAF(NM_004862.4):c.222T>C (p.I74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11553688A>G" "" "benign" "" "0000247411" "0" "90" "16" "11647420" "11647420" "subst" "0" "02330" "LITAF_000008" "g.11647420A>C" "" "" "" "LITAF(NM_004862.4):c.346T>G (p.W116G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11553564A>C" "" "pathogenic" "" "0000247414" "0" "90" "16" "11643308" "11643308" "subst" "2.93984E-5" "02330" "LITAF_000022" "g.11643308A>G" "" "" "" "LITAF(NR_024320.2):n.805T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11549452A>G" "" "pathogenic" "" "0000279196" "0" "10" "16" "11647532" "11647532" "subst" "0.0103064" "02330" "LITAF_000019" "g.11647532C>T" "" "" "" "LITAF(NM_004862.4):c.234G>A (p.T78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11553676C>T" "" "benign" "" "0000279197" "0" "10" "16" "11647492" "11647492" "subst" "0.166374" "02330" "LITAF_000018" "g.11647492T>C" "" "" "" "LITAF(NM_004862.4):c.274A>G (p.I92V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11553636T>C" "" "benign" "" "0000279198" "0" "10" "16" "11647436" "11647436" "subst" "0.000886186" "02330" "LITAF_000017" "g.11647436G>A" "" "" "" "LITAF(NM_004862.4):c.330C>T (p.N110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11553580G>A" "" "benign" "" "0000279199" "0" "90" "16" "11647434" "11647434" "subst" "0" "02330" "LITAF_000005" "g.11647434G>C" "" "" "" "LITAF(NM_004862.4):c.332C>G (p.A111G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11553578G>C" "" "pathogenic" "" "0000279200" "0" "10" "16" "11647433" "11647433" "subst" "0.00213816" "02330" "LITAF_000015" "g.11647433G>A" "" "" "" "LITAF(NM_004862.3):c.333C>T (p.A111=), LITAF(NM_004862.4):c.333C>T (p.A111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11553577G>A" "" "benign" "" "0000279201" "0" "90" "16" "11647432" "11647432" "subst" "0" "02330" "LITAF_000001" "g.11647432C>T" "" "" "" "LITAF(NM_004862.4):c.334G>A (p.G112S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11553576C>T" "" "pathogenic" "" "0000279202" "0" "90" "16" "11647422" "11647422" "subst" "0" "02330" "LITAF_000007" "g.11647422G>T" "" "" "" "LITAF(NM_004862.4):c.344C>A (p.T115N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11553566G>T" "" "pathogenic" "" "0000279203" "0" "90" "16" "11647402" "11647402" "subst" "0" "02330" "LITAF_000009" "g.11647402G>C" "" "" "" "LITAF(NM_004862.4):c.364C>G (p.L122V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11553546G>C" "" "pathogenic" "" "0000279204" "0" "90" "16" "11643576" "11643576" "subst" "0" "02330" "LITAF_000010" "g.11643576G>T" "" "" "" "LITAF(NM_004862.4):c.403C>A (p.P135T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11549720G>T" "" "pathogenic" "" "0000279205" "0" "90" "16" "11643576" "11643576" "subst" "0" "02330" "LITAF_000011" "g.11643576G>A" "" "" "" "LITAF(NM_004862.4):c.403C>T (p.P135S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11549720G>A" "" "pathogenic" "" "0000279206" "0" "10" "16" "11645629" "11645629" "subst" "0.0118448" "02330" "LITAF_000003" "g.11645629G>A" "" "" "" "LITAF(NM_001136473.1):c.409C>T (p.R137C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11551773G>A" "" "benign" "" "0000279207" "0" "10" "16" "11645626" "11645626" "subst" "0.0121518" "02330" "LITAF_000002" "g.11645626T>C" "" "" "" "LITAF(NM_001136473.1):c.412A>G (p.S138G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11551770T>C" "" "benign" "" "0000279208" "0" "30" "16" "11645607" "11645607" "subst" "0.000919199" "02330" "LITAF_000009" "g.11645607G>A" "" "" "" "LITAF(NM_001136473.1):c.431C>T (p.S144F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11551751G>A" "" "likely benign" "" "0000279209" "0" "10" "16" "11643502" "11643502" "subst" "2.45268E-5" "02330" "LITAF_000016" "g.11643502C>T" "" "" "" "LITAF(NM_004862.4):c.477G>A (p.K159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11549646C>T" "" "benign" "" "0000279210" "0" "10" "16" "11643440" "11643440" "subst" "0.000130772" "02330" "LITAF_000025" "g.11643440G>C" "" "" "" "LITAF(NR_024320.2):n.673C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11549584G>C" "" "benign" "" "0000279211" "0" "10" "16" "11643394" "11643394" "subst" "0.00676596" "02330" "LITAF_000024" "g.11643394G>A" "" "" "" "LITAF(NR_024320.2):n.719C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11549538G>A" "" "benign" "" "0000279212" "0" "10" "16" "11643350" "11643350" "subst" "0.00532947" "02330" "LITAF_000023" "g.11643350G>A" "" "" "" "LITAF(NR_024320.2):n.763C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11549494G>A" "" "benign" "" "0000282225" "0" "10" "16" "11647492" "11647492" "subst" "0.166374" "02325" "LITAF_000018" "g.11647492T>C" "" "" "" "LITAF(NM_004862.4):c.274A>G (p.I92V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11553636T>C" "" "benign" "" "0000351563" "20" "90" "16" "11650441" "11650441" "subst" "0.000577039" "00006" "LITAF_000004" "g.11650441G>A" "" "{PMID:Saifi 2005:15776429}" "" "" "not in 188 control chromosomes" "Germline" "" "rs141862602" "0" "" "" "g.11556585G>A" "" "likely pathogenic" "" "0000351564" "0" "90" "16" "11647434" "11647434" "subst" "0" "00006" "LITAF_000005" "g.11647434G>C" "" "{PMID:Latour 2006:16787513}" "" "" "" "Germline" "" "" "0" "" "" "g.11553578G>C" "" "pathogenic" "" "0000351565" "1" "90" "16" "11647432" "11647432" "subst" "0" "00006" "LITAF_000006" "g.11647432C>T" "" "{PMID:Street 2003:12525712}" "" "" "" "Germline" "yes" "" "0" "" "" "g.11553576C>T" "" "pathogenic" "" "0000351566" "1" "90" "16" "11647422" "11647422" "subst" "0" "00006" "LITAF_000007" "g.11647422G>T" "" "{PMID:Street 2003:12525712}" "" "" "" "Germline" "yes" "" "0" "" "" "g.11553566G>T" "" "pathogenic" "" "0000351567" "1" "90" "16" "11647420" "11647420" "subst" "0" "00006" "LITAF_000008" "g.11647420A>C" "" "{PMID:Street 2003:12525712}" "" "" "" "Germline" "yes" "" "0" "" "" "g.11553564A>C" "" "pathogenic" "" "0000351568" "0" "90" "16" "11647402" "11647402" "subst" "0" "00006" "LITAF_000009" "g.11647402G>C" "" "{PMID:Saifi 2005:15776429}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.11553546G>C" "" "pathogenic" "" "0000351569" "0" "90" "16" "11643576" "11643576" "subst" "0" "00006" "LITAF_000010" "g.11643576G>T" "" "{PMID:Latour 2006:16787513}" "" "" "" "Germline" "" "" "0" "" "" "g.11549720G>T" "" "pathogenic" "" "0000351570" "0" "90" "16" "11643576" "11643576" "subst" "0" "00006" "LITAF_000011" "g.11643576G>A" "" "{PMID:Latour 2006:16787513}" "" "" "" "Germline" "" "" "0" "" "" "g.11549720G>A" "" "pathogenic" "" "0000351571" "0" "90" "16" "11643549" "11643549" "subst" "0" "00006" "LITAF_000012" "g.11643549C>T" "" "{PMID:Gerding 2009:19541485}" "" "" "" "Germline" "" "" "0" "" "" "g.11549693C>T" "" "pathogenic" "" "0000351572" "11" "90" "16" "11647432" "11647432" "subst" "0" "00006" "LITAF_000001" "g.11647432C>T" "" "{PMID:Saifi 2005:15776429}" "" "" "" "Germline" "yes" "" "0" "" "" "g.11553576C>T" "" "pathogenic" "" "0000351573" "0" "90" "16" "11647432" "11647432" "subst" "0" "00006" "LITAF_000001" "g.11647432C>T" "" "{PMID:Saifi 2005:15776429}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.11553576C>T" "" "pathogenic" "" "0000351574" "0" "70" "16" "11643308" "11643308" "subst" "2.93984E-5" "00006" "LITAF_000022" "g.11643308A>G" "" "{PMID:Saifi 2005:15776429}" "" "671T>C" "not in 182 control chromosomes" "Germline" "" "" "0" "" "" "g.11549452A>G" "" "likely pathogenic" "" "0000351575" "0" "30" "16" "11647436" "11647436" "subst" "0.000886186" "00006" "LITAF_000017" "g.11647436G>A" "1/192 cases CMT" "{PMID:Saifi 2005:15776429}" "" "" "not in 188 control chromosomes" "Germline" "" "" "0" "" "" "g.11553580G>A" "" "likely benign" "" "0000351576" "0" "30" "16" "11643502" "11643502" "subst" "2.45268E-5" "00006" "LITAF_000016" "g.11643502C>T" "1/192 cases CMT" "{PMID:Saifi 2005:15776429}" "" "" "not in 182 control chromosomes" "Germline" "" "" "0" "" "" "g.11549646C>T" "" "likely benign" "" "0000351577" "0" "30" "16" "11643440" "11643440" "subst" "0.000130772" "00006" "LITAF_000025" "g.11643440G>C" "1/192 cases CMT" "{PMID:Saifi 2005:15776429}" "" "539C>G" "not in 182 control chromosomes" "Germline" "" "" "0" "" "" "g.11549584G>C" "" "likely benign" "" "0000351578" "0" "30" "16" "11643394" "11643394" "subst" "0.00676596" "00006" "LITAF_000024" "g.11643394G>A" "5/192 cases CMT" "{PMID:Saifi 2005:15776429}" "" "585C>T" "not in 182 control chromosomes" "Germline" "" "" "0" "" "" "g.11549538G>A" "" "likely benign" "" "0000351579" "0" "30" "16" "11643350" "11643350" "subst" "0.00532947" "00006" "LITAF_000023" "g.11643350G>A" "4/192 cases CMT" "{PMID:Saifi 2005:15776429}" "" "629C>T" "not in 182 control chromosomes" "Germline" "" "" "0" "" "" "g.11549494G>A" "" "likely benign" "" "0000351580" "0" "10" "16" "11650329" "11650329" "subst" "0" "00006" "LITAF_000014" "g.11650329A>G" "167/360 chromosomes CMT, 167/360 control" "{PMID:Saifi 2005:15776429}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000351581" "0" "10" "16" "11647492" "11647492" "subst" "0.166374" "00006" "LITAF_000018" "g.11647492T>C" "57/384 chromosomes CMT, 34/188 controls" "{PMID:Saifi 2005:15776429}" "" "" "" "Germline" "" "" "0" "" "" "g.11553636T>C" "" "benign" "" "0000351582" "0" "10" "16" "11643630" "11643630" "subst" "0" "00006" "LITAF_000013" "g.11643630G>A" "57/384 chromosomes CMT, 20/182 controls" "{PMID:Saifi 2005:15776429}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000556490" "0" "50" "16" "11643551" "11643551" "subst" "0" "02330" "LITAF_000026" "g.11643551T>C" "" "" "" "LITAF(NM_004862.4):c.428A>G (p.D143G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11549695T>C" "" "VUS" "" "0000556491" "0" "30" "16" "11645673" "11645673" "subst" "0.000667705" "02330" "LITAF_000027" "g.11645673G>A" "" "" "" "LITAF(NM_004862.4):c.377+1716C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11551817G>A" "" "likely benign" "" "0000556492" "0" "50" "16" "11647515" "11647515" "subst" "1.22046E-5" "02327" "LITAF_000028" "g.11647515G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11553659G>A" "" "VUS" "" "0000556493" "0" "50" "16" "11650543" "11650543" "subst" "0.000251848" "02330" "LITAF_000029" "g.11650543G>A" "" "" "" "LITAF(NM_004862.4):c.44C>T (p.S15L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11556687G>A" "" "VUS" "" "0000615682" "0" "50" "16" "11650537" "11650537" "subst" "2.4372E-5" "02327" "LITAF_000031" "g.11650537G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11556681G>A" "" "VUS" "" "0000623359" "0" "30" "16" "11647526" "11647526" "subst" "1.62758E-5" "02330" "LITAF_000030" "g.11647526G>A" "" "" "" "LITAF(NM_004862.4):c.240C>T (p.Y80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11553670G>A" "" "likely benign" "" "0000649211" "1" "30" "16" "11647532" "11647532" "subst" "0.0103064" "03575" "LITAF_000019" "g.11647532C>T" "41/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "41 heterozygous, no homozygous; {DB:CLININrs9282774}" "Germline" "" "rs9282774" "0" "" "" "g.11553676C>T" "" "likely benign" "" "0000664019" "0" "90" "16" "11647432" "11647432" "subst" "0" "00006" "LITAF_000001" "g.11647432C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs104894519" "0" "" "" "g.11553576C>T" "" "pathogenic (dominant)" "" "0000664147" "0" "90" "16" "11647432" "11647432" "subst" "0" "00006" "LITAF_000001" "g.11647432C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs104894519" "0" "" "" "g.11553576C>T" "" "pathogenic (dominant)" "" "0000664157" "0" "90" "16" "11647432" "11647432" "subst" "0" "00006" "LITAF_000001" "g.11647432C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs104894519" "0" "" "" "g.11553576C>T" "" "pathogenic (dominant)" "" "0000725435" "0" "50" "16" "11647464" "11647464" "subst" "0.000247925" "02330" "LITAF_000032" "g.11647464T>C" "" "" "" "LITAF(NM_004862.3):c.302A>G (p.K101R), LITAF(NM_004862.4):c.302A>G (p.K101R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725436" "0" "50" "16" "11650543" "11650543" "subst" "0.000251848" "02329" "LITAF_000029" "g.11650543G>A" "" "" "" "LITAF(NM_004862.4):c.44C>T (p.S15L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854265" "0" "50" "16" "11650453" "11650453" "subst" "2.4377E-5" "02329" "LITAF_000033" "g.11650453G>A" "" "" "" "LITAF(NM_004862.4):c.134C>T (p.T45M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864285" "0" "30" "16" "11647464" "11647464" "subst" "0.000247925" "01943" "LITAF_000032" "g.11647464T>C" "" "" "" "LITAF(NM_004862.3):c.302A>G (p.K101R), LITAF(NM_004862.4):c.302A>G (p.K101R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892501" "0" "50" "16" "11643561" "11643561" "subst" "0" "02327" "LITAF_000034" "g.11643561C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926113" "0" "30" "16" "11647433" "11647433" "subst" "0.00213816" "02326" "LITAF_000015" "g.11647433G>A" "" "" "" "LITAF(NM_004862.3):c.333C>T (p.A111=), LITAF(NM_004862.4):c.333C>T (p.A111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927619" "0" "70" "16" "11643576" "11643576" "subst" "0" "01741" "LITAF_000035" "g.11643576C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.11549720G>C" "" "likely pathogenic" "ACMG" "0000950503" "0" "10" "16" "11647409" "11647409" "subst" "0.000492286" "02330" "LITAF_000036" "g.11647409G>A" "" "" "" "LITAF(NM_001136473.1):c.357C>T (p.C119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001001857" "0" "30" "16" "11643480" "11643480" "subst" "8.28954E-5" "01804" "LITAF_000037" "g.11643480G>A" "" "" "" "LITAF(NM_001136472.1):c.*13C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040752" "0" "10" "16" "11650542" "11650542" "subst" "2.8434E-5" "02330" "LITAF_000038" "g.11650542T>C" "" "" "" "LITAF(NM_004862.3):c.45A>G (p.S15=), LITAF(NM_004862.4):c.45A>G (p.S15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046533" "0" "30" "16" "11650542" "11650542" "subst" "2.8434E-5" "02326" "LITAF_000038" "g.11650542T>C" "" "" "" "LITAF(NM_004862.3):c.45A>G (p.S15=), LITAF(NM_004862.4):c.45A>G (p.S15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 LITAF ## Count = 63 "{{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}}" "0000064281" "00011427" "90" "334" "0" "334" "0" "c.334G>A" "r.(=)" "p.(Gly112Ser)" "" "0000247369" "00011427" "10" "222" "0" "222" "0" "c.222T>C" "r.(?)" "p.(Ile74=)" "" "0000247411" "00011427" "90" "346" "0" "346" "0" "c.346T>G" "r.(?)" "p.(Trp116Gly)" "" "0000247414" "00011427" "90" "671" "0" "671" "0" "c.*185T>C" "r.(=)" "p.(=)" "" "0000279196" "00011427" "10" "234" "0" "234" "0" "c.234G>A" "r.(?)" "p.(Thr78=)" "" "0000279197" "00011427" "10" "274" "0" "274" "0" "c.274A>G" "r.(?)" "p.(Ile92Val)" "" "0000279198" "00011427" "10" "330" "0" "330" "0" "c.330C>T" "r.(?)" "p.(Asn110=)" "" "0000279199" "00011427" "90" "332" "0" "332" "0" "c.332C>G" "r.(?)" "p.(Ala111Gly)" "" "0000279200" "00011427" "10" "333" "0" "333" "0" "c.333C>T" "r.(?)" "p.(Ala111=)" "" "0000279201" "00011427" "90" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Gly112Ser)" "" "0000279202" "00011427" "90" "344" "0" "344" "0" "c.344C>A" "r.(?)" "p.(Thr115Asn)" "" "0000279203" "00011427" "90" "364" "0" "364" "0" "c.364C>G" "r.(?)" "p.(Leu122Val)" "" "0000279204" "00011427" "90" "403" "0" "403" "0" "c.403C>A" "r.(?)" "p.(Pro135Thr)" "" "0000279205" "00011427" "90" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Pro135Ser)" "" "0000279206" "00011427" "10" "377" "1760" "377" "1760" "c.377+1760C>T" "r.(=)" "p.(=)" "" "0000279207" "00011427" "10" "377" "1763" "377" "1763" "c.377+1763A>G" "r.(=)" "p.(=)" "" "0000279208" "00011427" "30" "377" "1782" "377" "1782" "c.377+1782C>T" "r.(=)" "p.(=)" "" "0000279209" "00011427" "10" "477" "0" "477" "0" "c.477G>A" "r.(?)" "p.(Lys159=)" "" "0000279210" "00011427" "10" "539" "0" "539" "0" "c.*53C>G" "r.(=)" "p.(=)" "" "0000279211" "00011427" "10" "585" "0" "585" "0" "c.*99C>T" "r.(=)" "p.(=)" "" "0000279212" "00011427" "10" "629" "0" "629" "0" "c.*143C>T" "r.(=)" "p.(=)" "" "0000282225" "00011427" "10" "274" "0" "274" "0" "c.274A>G" "r.(?)" "p.(Ile92Val)" "" "0000351563" "00011427" "70" "146" "0" "146" "0" "c.146C>T" "r.(?)" "p.(Thr49Met)" "2" "0000351564" "00011427" "90" "332" "0" "332" "0" "c.332C>G" "r.(?)" "p.(Ala111Gly)" "3" "0000351565" "00011427" "90" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Gly112Ser)" "3" "0000351566" "00011427" "90" "344" "0" "344" "0" "c.344C>A" "r.(?)" "p.(Thr115Asn)" "3" "0000351567" "00011427" "90" "346" "0" "346" "0" "c.346T>G" "r.(?)" "p.(Trp116Gly)" "3" "0000351568" "00011427" "90" "364" "0" "364" "0" "c.364C>G" "r.(?)" "p.(Leu122Val)" "3" "0000351569" "00011427" "90" "403" "0" "403" "0" "c.403C>A" "r.(?)" "p.(Pro135Thr)" "4" "0000351570" "00011427" "90" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Pro135Ser)" "4" "0000351571" "00011427" "90" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Val144Met)" "4" "0000351572" "00011427" "90" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Gly112Ser)" "" "0000351573" "00011427" "90" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Gly112Ser)" "" "0000351574" "00011427" "70" "671" "0" "671" "0" "c.*185T>C" "r.(=)" "p.(=)" "" "0000351575" "00011427" "30" "330" "0" "330" "0" "c.330C>T" "r.(?)" "p.(Asn110=)" "2" "0000351576" "00011427" "30" "477" "0" "477" "0" "c.477G>A" "r.(?)" "p.(Lys159=)" "3" "0000351577" "00011427" "30" "539" "0" "539" "0" "c.*53C>G" "r.(?)" "p.(=)" "3" "0000351578" "00011427" "30" "585" "0" "585" "0" "c.*99C>T" "r.(?)" "p.(=)" "3" "0000351579" "00011427" "30" "629" "0" "629" "0" "c.*143C>T" "r.(?)" "p.(=)" "3" "0000351580" "00011427" "10" "220" "38" "220" "38" "c.220+38T>C" "r.(?)" "p.(=)" "3" "0000351581" "00011427" "10" "274" "0" "274" "0" "c.274A>G" "r.(?)" "p.(Ile92Val)" "4" "0000351582" "00011427" "10" "378" "-29" "378" "-29" "c.378-29C>T" "r.(?)" "p.(=)" "4" "0000556490" "00011427" "50" "428" "0" "428" "0" "c.428A>G" "r.(?)" "p.(Asp143Gly)" "" "0000556491" "00011427" "30" "377" "1716" "377" "1716" "c.377+1716C>T" "r.(=)" "p.(=)" "" "0000556492" "00011427" "50" "251" "0" "251" "0" "c.251C>T" "r.(?)" "p.(Pro84Leu)" "" "0000556493" "00011427" "50" "44" "0" "44" "0" "c.44C>T" "r.(?)" "p.(Ser15Leu)" "" "0000615682" "00011427" "50" "50" "0" "50" "0" "c.50C>T" "r.(?)" "p.(Pro17Leu)" "" "0000623359" "00011427" "30" "240" "0" "240" "0" "c.240C>T" "r.(?)" "p.(Tyr80=)" "" "0000649211" "00011427" "30" "234" "0" "234" "0" "c.234G>A" "r.(=)" "p.(=)" "" "0000664019" "00011427" "90" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Gly112Ser)" "" "0000664147" "00011427" "90" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Gly112Ser)" "" "0000664157" "00011427" "90" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Gly112Ser)" "" "0000725435" "00011427" "50" "302" "0" "302" "0" "c.302A>G" "r.(?)" "p.(Lys101Arg)" "" "0000725436" "00011427" "50" "44" "0" "44" "0" "c.44C>T" "r.(?)" "p.(Ser15Leu)" "" "0000854265" "00011427" "50" "134" "0" "134" "0" "c.134C>T" "r.(?)" "p.(Thr45Met)" "" "0000864285" "00011427" "30" "302" "0" "302" "0" "c.302A>G" "r.(?)" "p.(Lys101Arg)" "" "0000892501" "00011427" "50" "418" "0" "418" "0" "c.418G>C" "r.(?)" "p.(Ala140Pro)" "" "0000926113" "00011427" "30" "333" "0" "333" "0" "c.333C>T" "r.(?)" "p.(Ala111=)" "" "0000927619" "00011427" "70" "403" "0" "403" "0" "c.403C>G" "r.(?)" "p.(Pro135Ala)" "4" "0000950503" "00011427" "10" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(=)" "" "0001001857" "00011427" "30" "499" "0" "499" "0" "c.*13C>T" "r.(=)" "p.(=)" "" "0001040752" "00011427" "10" "45" "0" "45" "0" "c.45A>G" "r.(?)" "p.(=)" "" "0001046533" "00011427" "30" "45" "0" "45" "0" "c.45A>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{variantid}}" "0000037156" "0000064281" "0000152728" "0000351563" "0000152729" "0000351564" "0000152730" "0000351565" "0000152731" "0000351566" "0000152732" "0000351567" "0000152733" "0000351568" "0000152734" "0000351569" "0000152735" "0000351570" "0000152736" "0000351571" "0000152737" "0000351572" "0000152738" "0000351573" "0000152739" "0000351574" "0000152740" "0000351575" "0000152741" "0000351576" "0000152742" "0000351577" "0000152743" "0000351578" "0000152744" "0000351579" "0000152745" "0000351580" "0000152746" "0000351581" "0000152747" "0000351582" "0000292522" "0000649211" "0000301124" "0000664019" "0000301252" "0000664147" "0000301262" "0000664157" "0000436586" "0000927619"