### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MTSS1L)
# 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}}"
"MTSS1L" "metastasis suppressor 1-like" "16" "q22.1" "unknown" "NC_000016.9" "UD_132465195477" "" "https://www.LOVD.nl/MTSS2" "" "1" "25094" "92154" "616951" "1" "1" "1" "1" "NOTE: gene name changed from MTSS1L to MTSS2\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/MTSS1L_codingDNA.html" "1" "" "NOTE: gene name changed from MTSS1L to MTSS2" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-09-13 13:44:44" "00000" "2025-05-05 21:14:00"
## 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}}"
"00014060" "MTSS1L" "metastasis suppressor 1-like" "001" "NM_138383.2" "" "NP_612392.1" "" "" "" "-260" "4717" "2244" "70719954" "70695107" "" "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}}"
"00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" ""
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"MTSS1L" "00139"
## Individuals ## Do not remove or alter this header ##
## Count = 8
"{{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}}"
"00225697" "" "" "" "3" "" "00006" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "5-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Saudi Arabia" "" "0" "" "" "" "25558065-Fam10DG0264"
"00308750" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" ""
"00417218" "" "" "" "1" "" "04381" "{PMID:Huang 2022:36067766}" "2 generation family, 1 affected, unaffected non carrier parents." "F" "no" "" ">42y" "0" "" "" "Europe" "Pat2"
"00417243" "" "" "" "1" "" "04381" "{PMID:Huang 2022:36067766}" "2-generation family, 1 affected, unaffected no carrier parents." "M" "no" "" ">15y" "0" "" "" "Europe" "Pat3"
"00417244" "" "" "" "1" "" "04381" "{PMID:Huang 2022:36067766}" "2-generation family, 1 affected, unaffected no carrier parents." "M" "no" "" ">00y14m" "0" "" "" "Europe" "Pat4"
"00417245" "" "" "" "1" "" "04381" "{PMID:Huang 2022:36067766}" "2-generation family, 1 affected, unaffected no carrier parents." "M" "no" "" ">00y21m" "0" "" "" "chinese" "Pat5"
"00431383" "" "" "" "1" "" "04381" "{PMID:Huang 2022:36067766}" "2 generation family, 1 affected, unaffected non carrier parents." "M" "no" "" ">08y" "0" "" "" "Europe" "Pat1"
"00435478" "" "" "" "1" "" "03335" "" "" "M" "no" "Mexico" "" "" "" "" "Latino" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 8
"{{individualid}}" "{{diseaseid}}"
"00225697" "00198"
"00308750" "00000"
"00417218" "00139"
"00417243" "00139"
"00417244" "00139"
"00417245" "00139"
"00431383" "00139"
"00435478" "05162"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 05162
## Count = 7
"{{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}}"
"0000170803" "00198" "00225697" "00006" "Familial, autosomal recessive" "" "see paper; …, neurodegeneration and brain iron accumulation" "" "" "" "" "" "" "" "" "" "neurogenetic disorder" ""
"0000308756" "00139" "00417218" "04381" "Isolated (sporadic)" "42y" "Intellectual disability, mild (HP:0001256); no Global developmental delay (-HP:0001263); Autistic behavior (HP:0000729); Seizure (HP:0001250); Sensorineural hearing impairment (HP:0000407); Microcephaly (HP:0000252); Microcephaly (HP:0000252) ; Ophthalmological anomalies (optic atrophy)" "" "" "" "" "" "" "" "" "" "intellectual disability" ""
"0000308757" "00139" "00417243" "04381" "Isolated (sporadic)" "15y" "Intellectual disability, mild (HP:0001256); no Global developmental delay (-HP:0001263); no Autistic behavior (-HP:0000729); no Seizure (-HP:0001250) ; Microcephaly (HP:0000252) ; Ophthalmological anomalies (nystagmus, ptosis)" "" "" "" "" "" "" "" "" "" "intellectual disability" ""
"0000308759" "00139" "00417244" "04381" "Isolated (sporadic)" "00y14m" "Global developmental delay (HP:0001263); ; no Seizure (-HP:0001250); no Sensorineural hearing impairment (-HP:0000407); Microcephaly (HP:0000252) ; Ophthalmological anomalies (bilateral iris cysts)" "" "" "" "" "" "" "" "" "" "intellectual disability" ""
"0000308760" "00139" "00417245" "04381" "Isolated (sporadic)" "00y21m" "Global developmental delay (HP:0001263); no Seizure (-HP:0001250); no Sensorineural hearing impairment (-HP:0000407); Microcephaly (HP:0000252); Microcephaly (HP:0000252) ; Ophthalmological anomalies (nystagmus, ptosis)" "" "" "" "" "" "" "" "" "" "intellectual disability" ""
"0000321977" "00139" "00431383" "04381" "Isolated (sporadic)" "42y" "mild intellectual disability (HP:0001256); no global developmental delay (-HP:0001263); autism spectrum disorder (HP:0000729); no seizures (-HP:0001250); nystagmus, foveal hypoplasia; sensorineural hearing loss (HP:0000407); upslanting palpebral fissures, epicanthal folds, bitemporal narrowing; relative microcephaly (0.40); height (0.83)" "" "" "" "" "" "" "" "" "" "intellectual disability" ""
"0000325666" "05162" "00435478" "03335" "Isolated (sporadic)" "08y" "Gobal developmental delay" "" "" "" "" "" "" "" "" "" "Global developmental delay" ""
## Screenings ## Do not remove or alter this header ##
## Count = 8
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000226764" "00225697" "1" "00006" "00006" "2019-02-22 18:37:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000309895" "00308750" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES"
"0000418534" "00417218" "1" "04381" "04381" "2022-09-14 14:42:57" "" "" "SEQ-NG" "DNA" "" "Trio WES"
"0000418535" "00417243" "1" "04381" "04381" "2022-09-14 15:26:00" "" "" "SEQ-NG" "DNA" "" "Trio WES"
"0000418536" "00417244" "1" "04381" "04381" "2022-09-14 15:37:54" "" "" "SEQ-NG" "DNA" "" "Trio WES"
"0000418537" "00417245" "1" "04381" "04381" "2022-09-14 16:11:43" "" "" "SEQ-NG" "DNA" "" "Trio WES"
"0000432796" "00431383" "1" "04381" "04381" "2022-09-14 14:42:57" "" "" "SEQ-NG" "DNA" "" "Trio WES"
"0000436957" "00435478" "1" "03335" "03335" "2023-08-02 17:31:42" "" "" "SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{geneid}}"
"0000226764" "MTSS1L"
"0000309895" "MTSS1L"
## 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 = 24
"{{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}}"
"0000292141" "0" "50" "16" "70697813" "70697813" "subst" "0" "01943" "MTSS1L_000001" "g.70697813G>A" "" "" "" "MTSS1L(NM_138383.2):c.2011C>T (p.R671W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70663910G>A" "" "VUS" ""
"0000324867" "0" "50" "16" "70721998" "70721998" "subst" "4.64796E-6" "01804" "VAC14_000001" "g.70721998G>C" "" "" "" "VAC14(NM_018052.3):c.2187-5C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70688095G>C" "" "VUS" ""
"0000459786" "3" "70" "16" "70698034" "70698034" "subst" "0.000134285" "00006" "MTSS1L_000002" "g.70698034G>A" "" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70664131G>A" "" "likely pathogenic (recessive)" ""
"0000616111" "0" "50" "16" "70697606" "70697606" "subst" "0" "01943" "IL34_000001" "g.70697606C>A" "" "" "" "MTSS1L(NM_138383.2):c.2218G>T (p.D740Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70663703C>A" "" "VUS" ""
"0000616112" "0" "30" "16" "70708278" "70708278" "subst" "0" "01943" "MTSS1L_000003" "g.70708278A>G" "" "" "" "MTSS1L(NM_138383.2):c.984T>C (p.S328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70674375A>G" "" "likely benign" ""
"0000684797" "0" "30" "16" "70698034" "70698034" "subst" "0.000134285" "00004" "MTSS1L_000002" "g.70698034G>A" "frequency 0.016" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.70664131G>A" "" "likely benign" ""
"0000878320" "0" "70" "16" "70697813" "70697813" "subst" "0" "04381" "MTSS1L_000001" "g.70697813G>A" "" "{PMID:Huang 2022:36067766}" "" "" "" "De novo" "-" "" "0" "" "" "g.70663910G>A" "" "likely pathogenic (dominant)" "ACMG"
"0000878323" "0" "70" "16" "70697813" "70697813" "subst" "0" "04381" "MTSS1L_000001" "g.70697813G>A" "" "{PMID:Huang 2022:36067766}" "" "" "" "De novo" "-" "" "" "" "" "g.70663910G>A" "{CV-RCV:001255620.2}" "likely pathogenic (dominant)" "ACMG"
"0000878324" "0" "70" "16" "70697813" "70697813" "subst" "0" "04381" "MTSS1L_000001" "g.70697813G>A" "" "{PMID:Huang 2022:36067766}" "" "" "" "De novo" "-" "" "" "" "" "g.70663910G>A" "" "likely pathogenic (dominant)" "ACMG"
"0000878326" "0" "70" "16" "70697813" "70697813" "subst" "0" "04381" "MTSS1L_000001" "g.70697813G>A" "" "{PMID:Huang 2022:36067766}" "" "" "" "De novo" "-" "" "" "" "" "g.70663910G>A" "" "likely pathogenic (dominant)" "ACMG"
"0000893160" "0" "50" "16" "70719694" "70719694" "subst" "0" "02327" "MTSS1L_000004" "g.70719694T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000914683" "0" "70" "16" "70697813" "70697813" "subst" "0" "02327" "MTSS1L_000001" "g.70697813G>A" "" "" "" "MTSS1L(NM_138383.2):c.2011C>T (p.R671W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000918406" "0" "70" "16" "70697813" "70697813" "subst" "0" "04381" "MTSS1L_000001" "g.70697813G>A" "" "{PMID:Huang 2022:36067766}" "" "" "" "De novo" "-" "" "0" "" "" "g.70663910G>A" "" "likely pathogenic (dominant)" "ACMG"
"0000931680" "0" "90" "16" "70697813" "70697813" "subst" "0" "03335" "MTSS1L_000001" "g.70697813G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.70663910G>A" "" "pathogenic (dominant)" "ACMG"
"0000982024" "0" "30" "16" "70697927" "70697927" "subst" "0.000854941" "01804" "IL34_000002" "g.70697927C>G" "" "" "" "MTSS1L(NM_138383.2):c.1897G>C (p.(Ala633Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000982025" "0" "30" "16" "70714936" "70714936" "subst" "0" "01804" "MTSS1L_000005" "g.70714936G>A" "" "" "" "MTSS2(NM_138383.3):c.70-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001002529" "0" "30" "16" "70697878" "70697878" "subst" "0.000205563" "01804" "IL34_000003" "g.70697878G>C" "" "" "" "MTSS1L(NM_138383.2):c.1946C>G (p.(Ser649Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001002530" "0" "30" "16" "70698860" "70698860" "subst" "0.000151709" "01804" "IL34_000004" "g.70698860G>A" "" "" "" "MTSS1L(NM_138383.2):c.1268C>T (p.(Pro423Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001002531" "0" "50" "16" "70698920" "70698920" "subst" "2.70814E-5" "02325" "IL34_000005" "g.70698920C>T" "" "" "" "MTSS2(NM_138383.3):c.1208G>A (p.R403Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001002532" "0" "10" "16" "70708381" "70708381" "subst" "0.000313564" "01804" "MTSS1L_000006" "g.70708381C>T" "" "" "" "MTSS1L(NM_138383.2):c.881G>A (p.(Gly294Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0001041306" "0" "30" "16" "70697704" "70697704" "subst" "5.1701E-5" "01804" "IL34_000006" "g.70697704G>A" "" "" "" "MTSS2(NM_138383.3):c.2120C>T (p.(Thr707Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001041307" "0" "30" "16" "70698040" "70698040" "subst" "5.47571E-5" "01804" "IL34_000007" "g.70698040G>A" "" "" "" "MTSS2(NM_138383.3):c.1784C>T (p.(Thr595Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001041308" "0" "30" "16" "70698642" "70698642" "subst" "5.44913E-5" "01804" "IL34_000008" "g.70698642C>T" "" "" "" "MTSS2(NM_138383.3):c.1330G>A (p.(Ala444Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001041309" "0" "30" "16" "70712285" "70712285" "subst" "0.000915721" "01804" "MTSS1L_000007" "g.70712285T>C" "" "" "" "MTSS2(NM_138383.3):c.494A>G (p.(Asp165Gly))" "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 MTSS1L
## Count = 24
"{{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}}"
"0000292141" "00014060" "50" "2011" "0" "2011" "0" "c.2011C>T" "r.(?)" "p.(Arg671Trp)" ""
"0000324867" "00014060" "50" "-2304" "0" "-2304" "0" "c.-2304C>G" "r.(?)" "p.(=)" ""
"0000459786" "00014060" "70" "1790" "0" "1790" "0" "c.1790C>T" "r.(?)" "p.(Thr597Met)" ""
"0000616111" "00014060" "50" "2218" "0" "2218" "0" "c.2218G>T" "r.(?)" "p.(Asp740Tyr)" ""
"0000616112" "00014060" "30" "984" "0" "984" "0" "c.984T>C" "r.(?)" "p.(Ser328=)" ""
"0000684797" "00014060" "30" "1790" "0" "1790" "0" "c.1790C>T" "r.(?)" "p.(Thr597Met)" ""
"0000878320" "00014060" "70" "2011" "0" "2011" "0" "c.2011C>T" "r.(?)" "p.(Arg671Trp)" "15"
"0000878323" "00014060" "70" "2011" "0" "2011" "0" "c.2011C>T" "r.(?)" "p.(Arg671Trp)" "15"
"0000878324" "00014060" "70" "2011" "0" "2011" "0" "c.2011C>T" "r.(?)" "p.(Arg671Trp)" ""
"0000878326" "00014060" "70" "2011" "0" "2011" "0" "c.2011C>T" "r.(?)" "p.(Arg671Trp)" "15"
"0000893160" "00014060" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" ""
"0000914683" "00014060" "70" "2011" "0" "2011" "0" "c.2011C>T" "r.(?)" "p.(Arg671Trp)" ""
"0000918406" "00014060" "70" "2011" "0" "2011" "0" "c.2011C>T" "r.(?)" "p.(Arg671Trp)" "15"
"0000931680" "00014060" "90" "2011" "0" "2011" "0" "c.2011C>T" "r.(?)" "p.(Arg671Trp)" "15"
"0000982024" "00014060" "30" "1897" "0" "1897" "0" "c.1897G>C" "r.(?)" "p.(Ala633Pro)" ""
"0000982025" "00014060" "30" "70" "-8" "70" "-8" "c.70-8C>T" "r.(=)" "p.(=)" ""
"0001002529" "00014060" "30" "1946" "0" "1946" "0" "c.1946C>G" "r.(?)" "p.(Ser649Cys)" ""
"0001002530" "00014060" "30" "1268" "0" "1268" "0" "c.1268C>T" "r.(?)" "p.(Pro423Leu)" ""
"0001002531" "00014060" "50" "1208" "0" "1208" "0" "c.1208G>A" "r.(?)" "p.(Arg403Gln)" ""
"0001002532" "00014060" "10" "881" "0" "881" "0" "c.881G>A" "r.(?)" "p.(Gly294Glu)" ""
"0001041306" "00014060" "30" "2120" "0" "2120" "0" "c.2120C>T" "r.(?)" "p.(Thr707Met)" ""
"0001041307" "00014060" "30" "1784" "0" "1784" "0" "c.1784C>T" "r.(?)" "p.(Thr595Met)" ""
"0001041308" "00014060" "30" "1330" "0" "1330" "0" "c.1330G>A" "r.(?)" "p.(Ala444Thr)" ""
"0001041309" "00014060" "30" "494" "0" "494" "0" "c.494A>G" "r.(?)" "p.(Asp165Gly)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 8
"{{screeningid}}" "{{variantid}}"
"0000226764" "0000459786"
"0000309895" "0000684797"
"0000418534" "0000878320"
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