### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MAT2A)
# 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}}"
"MAT2A"	"methionine adenosyltransferase II, alpha"	"2"	"p11.2"	"unknown"	"NG_029183.1"	"UD_132377004504"	""	"http://www.LOVD.nl/MAT2A"	""	"1"	"6904"	"4144"	"601468"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/MAT2A_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2015-02-14 21:33:34"	"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}}"
"00011842"	"MAT2A"	"methionine adenosyltransferase II, alpha"	"001"	"NM_005911.5"	""	"NP_005902.1"	""	""	""	"-310"	"2696"	"1188"	"85766101"	"85772403"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"04193"	"TAAD"	"aneurysms, aortic, thoracic, dissections (TAAD)"	""	""	""	""	""	"00006"	"2015-02-14 21:35:57"	"00006"	"2016-03-20 12:15:43"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0


## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00032341"	""	""	""	"8"	""	"00006"	"{PMID:Guo 2015:25557781}, {DOI:Guo 2015:10.1016/j.ajhg.2014.11.015}"	"4-generation family, 8 affecteds (3F, 5M)"	""	"no"	"United States"	""	"0"	""	""	""	""
"00032342"	""	""	""	"1"	""	"00006"	"{PMID:Guo 2015:25557781}, {DOI:Guo 2015:10.1016/j.ajhg.2014.11.015}"	""	""	"no"	"France"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00032341"	"04193"
"00032342"	"04193"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 04193
## Count = 2
"{{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}}"
"0000025807"	"04193"	"00032341"	"00006"	"Familial, autosomal dominant"	""	"see paper; dilatation aortic root and ascending aorta with or without BAV, .."	""	""	""	""	""	""	""	""	""
"0000025808"	"04193"	"00032342"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000032408"	"00032341"	"1"	"00006"	"00006"	"2015-02-14 21:40:55"	""	""	"SEQ"	"DNA"	""	""
"0000032409"	"00032342"	"1"	"00006"	"00006"	"2015-02-14 21:48:24"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000032408"	"MAT2A"
"0000032409"	"ACTA2"
"0000032409"	"MAT2A"


## 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 = 35
"{{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}}"
"0000058534"	"1"	"90"	"2"	"85770103"	"85770103"	"subst"	"0"	"00006"	"MAT2A_000001"	"g.85770103A>C"	""	"{PMID:Guo 2015:25557781}, {DOI:Guo 2015:10.1016/j.ajhg.2014.11.015}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.85542980A>C"	""	"pathogenic"	""
"0000058535"	"0"	"90"	"2"	"85770139"	"85770139"	"subst"	"0"	"00006"	"MAT2A_000002"	"g.85770139G>A"	""	"{PMID:Guo 2015:25557781}, {DOI:Guo 2015:10.1016/j.ajhg.2014.11.015}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.85543016G>A"	""	"pathogenic"	""
"0000291542"	"0"	"50"	"2"	"85768369"	"85768369"	"subst"	"0"	"01943"	"MAT2A_000004"	"g.85768369T>A"	""	""	""	"MAT2A(NM_005911.5):c.170-9T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.85541246T>A"	""	"VUS"	""
"0000291547"	"0"	"30"	"2"	"85766473"	"85766473"	"subst"	"0"	"01943"	"MAT2A_000003"	"g.85766473C>T"	""	""	""	"MAT2A(NM_005911.5):c.63C>T (p.T21=), MAT2A(NM_005911.6):c.63C>T (p.T21=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.85539350C>T"	""	"likely benign"	""
"0000291549"	"0"	"30"	"2"	"85769750"	"85769750"	"subst"	"0.000170665"	"01943"	"MAT2A_000012"	"g.85769750T>C"	""	""	""	"MAT2A(NM_005911.5):c.831T>C (p.H277=), MAT2A(NM_005911.6):c.831T>C (p.H277=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.85542627T>C"	""	"likely benign"	""
"0000327142"	"0"	"30"	"2"	"85788015"	"85788015"	"subst"	"6.09088E-5"	"01804"	"GGCX_000003"	"g.85788015G>C"	""	""	""	"GGCX(NM_000821.5):c.137C>G (p.(Ser46Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.85560892G>C"	""	"likely benign"	""
"0000517015"	"0"	"30"	"2"	"85768222"	"85768222"	"subst"	"0.000501031"	"02326"	"GGCX_000005"	"g.85768222A>G"	""	""	""	"MAT2A(NM_005911.6):c.108A>G (p.Q36=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.85541099A>G"	""	"likely benign"	""
"0000517016"	"0"	"30"	"2"	"85768234"	"85768234"	"subst"	"0.000125978"	"02326"	"GGCX_000006"	"g.85768234T>C"	""	""	""	"MAT2A(NM_005911.6):c.120T>C (p.A40=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.85541111T>C"	""	"likely benign"	""
"0000517018"	"0"	"10"	"2"	"85769711"	"85769711"	"subst"	"0.442179"	"01943"	"GGCX_000008"	"g.85769711C>G"	""	""	""	"MAT2A(NM_005911.5):c.792_793delCAinsGA (p.R264_K265=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.85542588C>G"	""	"benign"	""
"0000517019"	"0"	"30"	"2"	"85769750"	"85769750"	"subst"	"0.000170665"	"02326"	"MAT2A_000012"	"g.85769750T>C"	""	""	""	"MAT2A(NM_005911.5):c.831T>C (p.H277=), MAT2A(NM_005911.6):c.831T>C (p.H277=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.85542627T>C"	""	"likely benign"	""
"0000517021"	"0"	"50"	"2"	"85777747"	"85777747"	"subst"	"4.06105E-5"	"02325"	"GGCX_000010"	"g.85777747C>T"	""	""	""	"GGCX(NM_000821.7):c.2015G>A (p.R672Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.85550624C>T"	""	"VUS"	""
"0000517025"	"0"	"10"	"2"	"85781318"	"85781318"	"subst"	"0.988742"	"02325"	"GGCX_000014"	"g.85781318T>G"	""	""	""	"GGCX(NM_000821.7):c.837A>C (p.G279=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000517026"	"0"	"30"	"2"	"85787963"	"85787963"	"subst"	"0.00185164"	"01943"	"GGCX_000015"	"g.85787963G>A"	""	""	""	"GGCX(NM_000821.6):c.189C>T (p.S63=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.85560840G>A"	""	"likely benign"	""
"0000517027"	"0"	"30"	"2"	"85788061"	"85788061"	"subst"	"0.00027612"	"02325"	"GGCX_000016"	"g.85788061C>T"	""	""	""	"GGCX(NM_000821.7):c.91G>A (p.D31N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.85560938C>T"	""	"likely benign"	""
"0000608136"	"0"	"50"	"2"	"85768443"	"85768443"	"subst"	"0"	"02327"	"GGCX_000017"	"g.85768443T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.85541320T>C"	""	"VUS"	""
"0000688866"	"0"	"50"	"2"	"85779674"	"85779674"	"subst"	"1.21826E-5"	"01943"	"GGCX_000022"	"g.85779674C>T"	""	""	""	"GGCX(NM_000821.6):c.1304G>A (p.R435Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719075"	"0"	"30"	"2"	"85783341"	"85783341"	"subst"	"0.00247267"	"02327"	"GGCX_000023"	"g.85783341G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000800833"	"0"	"30"	"2"	"85787963"	"85787963"	"subst"	"0.00185164"	"02327"	"GGCX_000015"	"g.85787963G>A"	""	""	""	"GGCX(NM_000821.6):c.189C>T (p.S63=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850054"	"0"	"30"	"2"	"85769750"	"85769750"	"subst"	"0.000170665"	"02329"	"MAT2A_000012"	"g.85769750T>C"	""	""	""	"MAT2A(NM_005911.5):c.831T>C (p.H277=), MAT2A(NM_005911.6):c.831T>C (p.H277=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850055"	"0"	"30"	"2"	"85770099"	"85770099"	"subst"	"7.31119E-5"	"02326"	"GGCX_000024"	"g.85770099A>G"	""	""	""	"MAT2A(NM_005911.6):c.1027A>G (p.R343G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000858713"	"0"	"30"	"2"	"85770131"	"85770131"	"subst"	"2.0315E-5"	"01943"	"GGCX_000025"	"g.85770131C>T"	""	""	""	"MAT2A(NM_005911.5):c.1059C>T (p.F353=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000885420"	"0"	"50"	"2"	"85766429"	"85766429"	"subst"	"0"	"02329"	"GGCX_000026"	"g.85766429G>A"	""	""	""	"MAT2A(NM_005911.6):c.19G>A (p.G7S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000885421"	"0"	"10"	"2"	"85769732"	"85769732"	"subst"	"0.00229514"	"02326"	"GGCX_000027"	"g.85769732T>C"	""	""	""	"MAT2A(NM_005911.6):c.813T>C (p.Y271=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000923789"	"0"	"30"	"2"	"85768736"	"85768736"	"subst"	"0"	"02329"	"GGCX_000028"	"g.85768736G>A"	""	""	""	"MAT2A(NM_005911.6):c.293-20G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000928660"	"0"	"30"	"2"	"85768984"	"85768984"	"subst"	"0.000365533"	"02326"	"GGCX_000029"	"g.85768984T>C"	""	""	""	"MAT2A(NM_005911.6):c.438T>C (p.T146=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000947975"	"0"	"30"	"2"	"85769882"	"85769883"	"del"	"0"	"02329"	"GGCX_000030"	"g.85769882_85769883del"	""	""	""	"MAT2A(NM_005911.6):c.951+12_951+13delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000962305"	"0"	"30"	"2"	"85766473"	"85766473"	"subst"	"0"	"02329"	"MAT2A_000003"	"g.85766473C>T"	""	""	""	"MAT2A(NM_005911.5):c.63C>T (p.T21=), MAT2A(NM_005911.6):c.63C>T (p.T21=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000975440"	"0"	"50"	"2"	"85780132"	"85780132"	"subst"	"0.000357401"	"02325"	"GGCX_000012"	"g.85780132C>T"	""	""	""	"GGCX(NM_000821.7):c.1217G>A (p.R406H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000993051"	"0"	"30"	"2"	"85768222"	"85768222"	"subst"	"0.000501031"	"02329"	"GGCX_000005"	"g.85768222A>G"	""	""	""	"MAT2A(NM_005911.6):c.108A>G (p.Q36=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000993052"	"0"	"30"	"2"	"85768984"	"85768984"	"subst"	"0.000365533"	"02329"	"GGCX_000029"	"g.85768984T>C"	""	""	""	"MAT2A(NM_005911.6):c.438T>C (p.T146=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000993053"	"0"	"30"	"2"	"85769890"	"85769890"	"subst"	"4.28185E-6"	"02329"	"GGCX_000031"	"g.85769890C>T"	""	""	""	"MAT2A(NM_005911.6):c.951+20C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000993054"	"0"	"10"	"2"	"85770005"	"85770005"	"subst"	"0.000561228"	"02329"	"GGCX_000032"	"g.85770005G>A"	""	""	""	"MAT2A(NM_005911.6):c.952-19G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001024682"	"0"	"30"	"2"	"85768513"	"85768513"	"subst"	"4.16313E-6"	"02329"	"GGCX_000033"	"g.85768513G>T"	""	""	""	"MAT2A(NM_005911.6):c.292+13G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001024683"	"0"	"30"	"2"	"85778193"	"85778193"	"subst"	"0.000959584"	"02326"	"GGCX_000001"	"g.85778193C>T"	""	""	""	"GGCX(NM_000821.7):c.1743G>A (p.L581=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001033505"	"0"	"50"	"2"	"85780387"	"85780387"	"subst"	"0"	"01804"	"GGCX_000034"	"g.85780387G>C"	""	""	""	"GGCX(NM_000821.7):c.1123C>G (p.(Leu375Val))"	"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 MAT2A
## Count = 35
"{{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}}"
"0000058534"	"00011842"	"90"	"1031"	"0"	"1031"	"0"	"c.1031A>C"	"r.(?)"	"p.(Glu344Ala)"	"8"
"0000058535"	"00011842"	"90"	"1067"	"0"	"1067"	"0"	"c.1067G>A"	"r.(?)"	"p.(Arg356His)"	"8"
"0000291542"	"00011842"	"50"	"170"	"-9"	"170"	"-9"	"c.170-9T>A"	"r.(=)"	"p.(=)"	""
"0000291547"	"00011842"	"30"	"63"	"0"	"63"	"0"	"c.63C>T"	"r.(?)"	"p.(Thr21=)"	""
"0000291549"	"00011842"	"30"	"831"	"0"	"831"	"0"	"c.831T>C"	"r.(?)"	"p.(His277=)"	""
"0000327142"	"00011842"	"30"	"18308"	"0"	"18308"	"0"	"c.*17120G>C"	"r.(=)"	"p.(=)"	""
"0000517015"	"00011842"	"30"	"108"	"0"	"108"	"0"	"c.108A>G"	"r.(?)"	"p.(Gln36=)"	""
"0000517016"	"00011842"	"30"	"120"	"0"	"120"	"0"	"c.120T>C"	"r.(?)"	"p.(Ala40=)"	""
"0000517018"	"00011842"	"10"	"792"	"0"	"792"	"0"	"c.792C>G"	"r.(?)"	"p.(Arg264=)"	""
"0000517019"	"00011842"	"30"	"831"	"0"	"831"	"0"	"c.831T>C"	"r.(?)"	"p.(His277=)"	""
"0000517021"	"00011842"	"50"	"8040"	"0"	"8040"	"0"	"c.*6852C>T"	"r.(=)"	"p.(=)"	""
"0000517025"	"00011842"	"10"	"11611"	"0"	"11611"	"0"	"c.*10423T>G"	"r.(=)"	"p.(=)"	""
"0000517026"	"00011842"	"30"	"18256"	"0"	"18256"	"0"	"c.*17068G>A"	"r.(=)"	"p.(=)"	""
"0000517027"	"00011842"	"30"	"18354"	"0"	"18354"	"0"	"c.*17166C>T"	"r.(=)"	"p.(=)"	""
"0000608136"	"00011842"	"50"	"235"	"0"	"235"	"0"	"c.235T>C"	"r.(?)"	"p.(Tyr79His)"	""
"0000688866"	"00011842"	"50"	"9967"	"0"	"9967"	"0"	"c.*8779C>T"	"r.(=)"	"p.(=)"	""
"0000719075"	"00011842"	"30"	"13634"	"0"	"13634"	"0"	"c.*12446G>A"	"r.(=)"	"p.(=)"	""
"0000800833"	"00011842"	"30"	"18256"	"0"	"18256"	"0"	"c.*17068G>A"	"r.(=)"	"p.(=)"	""
"0000850054"	"00011842"	"30"	"831"	"0"	"831"	"0"	"c.831T>C"	"r.(?)"	"p.(His277=)"	""
"0000850055"	"00011842"	"30"	"1027"	"0"	"1027"	"0"	"c.1027A>G"	"r.(?)"	"p.(Arg343Gly)"	""
"0000858713"	"00011842"	"30"	"1059"	"0"	"1059"	"0"	"c.1059C>T"	"r.(?)"	"p.(Phe353=)"	""
"0000885420"	"00011842"	"50"	"19"	"0"	"19"	"0"	"c.19G>A"	"r.(?)"	"p.(Gly7Ser)"	""
"0000885421"	"00011842"	"10"	"813"	"0"	"813"	"0"	"c.813T>C"	"r.(?)"	"p.(Tyr271=)"	""
"0000923789"	"00011842"	"30"	"293"	"-20"	"293"	"-20"	"c.293-20G>A"	"r.(=)"	"p.(=)"	""
"0000928660"	"00011842"	"30"	"438"	"0"	"438"	"0"	"c.438T>C"	"r.(?)"	"p.(=)"	""
"0000947975"	"00011842"	"30"	"951"	"12"	"951"	"13"	"c.951+12_951+13del"	"r.(=)"	"p.(=)"	""
"0000962305"	"00011842"	"30"	"63"	"0"	"63"	"0"	"c.63C>T"	"r.(?)"	"p.(Thr21=)"	""
"0000975440"	"00011842"	"50"	"10425"	"0"	"10425"	"0"	"c.*9237C>T"	"r.(=)"	"p.(=)"	""
"0000993051"	"00011842"	"30"	"108"	"0"	"108"	"0"	"c.108A>G"	"r.(?)"	"p.(Gln36=)"	""
"0000993052"	"00011842"	"30"	"438"	"0"	"438"	"0"	"c.438T>C"	"r.(?)"	"p.(=)"	""
"0000993053"	"00011842"	"30"	"951"	"20"	"951"	"20"	"c.951+20C>T"	"r.(=)"	"p.(=)"	""
"0000993054"	"00011842"	"10"	"952"	"-19"	"952"	"-19"	"c.952-19G>A"	"r.(=)"	"p.(=)"	""
"0001024682"	"00011842"	"30"	"292"	"13"	"292"	"13"	"c.292+13G>T"	"r.(=)"	"p.(=)"	""
"0001024683"	"00011842"	"30"	"8486"	"0"	"8486"	"0"	"c.*7298C>T"	"r.(=)"	"p.(=)"	""
"0001033505"	"00011842"	"50"	"10680"	"0"	"10680"	"0"	"c.*9492G>C"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000032408"	"0000058534"
"0000032409"	"0000058535"