### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = AMT)
# 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}}"
"AMT"	"aminomethyltransferase"	"3"	"p21.31"	"unknown"	"LRG_537"	"UD_144407779690"	""	""	""	"1"	"473"	"275"	"238310"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2021-02-01 10:15:42"	""	""	"00005"	"2021-09-05 14:18:58"


## 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}}"
"00000112"	"AMT"	"transcript variant 1"	"005"	"NM_000481.3"	""	"NP_000472.2"	""	""	""	"-228"	"1974"	"1212"	"49422678"	"49416778"	"00001"	"2021-02-01 10:15:42"	""	""


## 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}}"
"00062"	"GCE"	"Glycine encephalopathy/nonketotic hyperglycinemia"	""	""	""	""	""	"00001"	"2021-02-01 10:14:56"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"AMT"	"00062"


## Individuals ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Remarks_Non_Public}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Origin/Ethnic}}"	"{{Individual/Origin/Population}}"	"{{Individual/Gender}}"
"00000390"	""	""	""	"1"	""	"00002"	"{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}"	""	""	"Malaysia"	"Malay"	""	"F"
"00000391"	""	""	""	"1"	""	"00002"	"{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}"	""	""	"Malaysia"	"Chinese"	""	"F"
"00000392"	""	""	""	"1"	""	"00002"	"{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}"	""	""	"Malaysia"	"Malay"	""	"M"
"00000393"	""	""	""	"1"	""	"00002"	"{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}"	""	""	"Malaysia"	"Penan"	""	"F"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{individualid}}"	"{{diseaseid}}"
"00000390"	"00062"
"00000391"	"00062"
"00000392"	"00062"
"00000393"	"00062"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00062
## Count = 4
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000137"	"00062"	"00000390"	"00002"	""	"Familial, autosomal recessive"
"0000000138"	"00062"	"00000391"	"00002"	""	"Familial, autosomal recessive"
"0000000139"	"00062"	"00000392"	"00002"	""	"Familial, autosomal recessive"
"0000000140"	"00062"	"00000393"	"00002"	""	"Familial, autosomal recessive"


## Screenings ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"
"0000000404"	"00000390"	"1"	"00002"	"00002"	"2021-02-01 10:21:38"	""	""	"MLPA;PCR;SEQ"	"DNA"
"0000000405"	"00000391"	"1"	"00002"	"00002"	"2021-02-01 10:34:16"	""	""	"MLPA;PCR;SEQ"	"DNA"
"0000000406"	"00000392"	"1"	"00002"	"00002"	"2021-02-01 10:43:59"	""	""	"MLPA;PCR;SEQ"	"DNA"
"0000000407"	"00000393"	"1"	"00002"	"00002"	"2021-02-01 10:52:05"	""	""	"MLPA;PCR;SEQ"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{geneid}}"
"0000000404"	"AMT"
"0000000405"	"AMT"
"0000000406"	"AMT"
"0000000407"	"AMT"


## 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 = 7
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/dbSNP}}"
"0000001835"	"0"	"90"	"3"	"49419292"	"49419292"	"subst"	"0"	"00002"	"AMT_000001"	"g.49419292G>A"	"1/4"	"{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}, {dbSNP:rs781466698}, {ClinVar:552860}"	""	""	"rs781466698"
"0000001836"	"0"	"90"	"3"	"49419268"	"49419268"	"subst"	"0"	"00002"	"AMT_000002"	"g.49419268C>G"	"1/4"	"{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}"	""	""	""
"0000001837"	"0"	"90"	"3"	"49419022"	"49419022"	"subst"	"0"	"00002"	"AMT_000003"	"g.49419022C>G"	"1"	"{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}, {dbSNP:rs121964984}, {OMIM:238310:0005}, {ClinVar:11978}"	""	""	"rs121964984"
"0000001838"	"0"	"90"	"3"	"49417869"	"49417869"	"del"	"0"	"00002"	"AMT_000004"	"g.49417869delC"	"1"	"{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}, {dbSNP:rs1553638266}, {ClinVar:557221}"	""	""	"rs1553638266"
"0000001839"	"0"	"90"	"3"	"49419292"	"49419292"	"subst"	"0"	"00002"	"AMT_000001"	"g.49419292G>A"	"1/4"	"{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}, {dbSNP:rs781466698}, {ClinVar:552860}"	""	""	"rs781466698"
"0000001840"	"0"	"50"	"3"	"49419268"	"49419268"	"subst"	"0"	"00002"	"AMT_000002"	"g.49419268C>G"	"1/4"	"{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}, {dbSNP:rs1568206043} ,{ClinVar: 575340}"	""	""	"rs1568206043"
"0000001841"	"3"	"90"	"3"	"49419054"	"49419054"	"subst"	"0"	"00002"	"AMT_000005"	"g.49419054C>T"	"3"	"{PMID:Nor Azimah Abdul Azize et al. (2014):25231368}, {dbSNP:rs757918826}, {ClinVar:550886}"	""	""	"rs757918826"


## 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 AMT
## Count = 7
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/Exon}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/RNA}}"	"{{VariantOnTranscript/Published_as}}"	"{{VariantOnTranscript/GVS/Function}}"	"{{VariantOnTranscript/VariantOnTranscript}}"
"0000001835"	"00000112"	"90"	"664"	"0"	"664"	"0"	"c.664C>T"	"6"	"p.(Arg222Cys)"	"r.(?)"	""	""	"{ClinVar:552860}"
"0000001836"	"00000112"	"90"	"688"	"0"	"688"	"0"	"c.688G>C"	"6"	"p.(Gly230Arg)"	"r.(?)"	""	""	""
"0000001837"	"00000112"	"90"	"826"	"0"	"826"	"0"	"c.826G>C"	"7"	"p.(Asp276His)"	"r.(?)"	""	""	"{ClinVar:11978}"
"0000001838"	"00000112"	"90"	"982"	"0"	"982"	"0"	"c.982delG"	"8"	"p.(Ala328Profs*10)"	"r.(?)"	""	""	"{ClinVar:557221}"
"0000001839"	"00000112"	"90"	"664"	"0"	"664"	"0"	"c.664C>T"	"6"	"p.(Arg222Cys)"	"r.(?)"	""	""	"{ClinVar:552860}"
"0000001840"	"00000112"	"50"	"688"	"0"	"688"	"0"	"c.688G>C"	"6"	"p.(Gly230Arg)"	"r.(?)"	""	""	"{ClinVar: 575340}"
"0000001841"	"00000112"	"90"	"794"	"0"	"794"	"0"	"c.794G>A"	"7"	"p.(Arg265His)"	"r.(?)"	""	""	"{ClinVar:550886}"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}"	"{{variantid}}"
"0000000404"	"0000001835"
"0000000404"	"0000001836"
"0000000405"	"0000001837"
"0000000405"	"0000001838"
"0000000406"	"0000001839"
"0000000406"	"0000001840"
"0000000407"	"0000001841"