### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = NOTCH3)
# 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}}"
"NOTCH3"	"notch receptor 3"	"19"	"p13.12"	"unknown"	"NG_009819.1"	"UD_144428749669"	""	""	""	"1"	"7883"	"4854"	"600276"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-11-18 09:19:02"	""	""	"00006"	"2021-09-12 15:02:03"


## 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}}"
"00000039"	"NOTCH3"	"notch 3"	"001"	"NM_000435.2"	""	"NP_000426.2"	""	""	""	"-76"	"7995"	"6966"	"15200981"	"15159633"	"00001"	"2020-11-18 09:19:48"	""	""


## 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}}"
"00024"	"CADASIL"	"Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy"	""	""	""	""	""	"00001"	"2020-11-18 09:18:31"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"NOTCH3"	"00024"


## Individuals ## Do not remove or alter this header ##
## Count = 6
"{{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}}"
"00000155"	""	""	""	"1"	""	"00002"	"{DOI:Tsun-Haw Toh et al. (2019):10.31117/neuroscirn.v2i3.35}"	""	""	"Malaysia"	"Chinese"	""	"M"
"00000156"	""	""	""	"1"	""	"00002"	"{DOI:Tsun Haw Toh et al. (2019):10.31117/neuroscirn.v2i3.35}"	""	""	"Malaysia"	"Chinese"	""	"F"
"00000157"	""	""	""	"1"	""	"00002"	"{DOI:Tsun Haw Toh et al. (2019):10.31117/neuroscirn.v2i3.35}"	""	""	"Malaysia"	"Chinese/Indian"	""	"F"
"00000158"	""	""	""	"1"	""	"00002"	"{DOI:Tsun Haw Toh et al. (2019):10.31117/neuroscirn.v2i3.35}"	""	""	"Malaysia"	"Indian"	""	"M"
"00000159"	""	""	""	"1"	""	"00002"	"{PMID:Kheng-Seang Lim et al. (2015):26270344}"	""	""	"Malaysia"	"Kadazandusun"	"Rungus"	""
"00000784"	""	""	""	"1"	""	"00004"	"{DOI:Hong Chuan Loh et al.(2021):10.36877/pddbs.a0000200}"	""	""	"Malaysia"	"Chinese-Indian"	""	"F"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 6
"{{individualid}}"	"{{diseaseid}}"
"00000155"	"00024"
"00000156"	"00024"
"00000157"	"00024"
"00000158"	"00024"
"00000159"	"00024"
"00000784"	"00024"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00024
## Count = 5
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000068"	"00024"	"00000155"	"00002"	""	"Familial, autosomal dominant"
"0000000069"	"00024"	"00000156"	"00002"	""	"Familial, autosomal dominant"
"0000000070"	"00024"	"00000157"	"00002"	""	"Familial, autosomal dominant"
"0000000071"	"00024"	"00000158"	"00002"	""	"Familial, autosomal dominant"
"0000000303"	"00024"	"00000784"	"00004"	"First MRI brain scan showed white matter hyperintensities in the periventricular and anterior temporal regions. Second MRI brain scan revealed additional hyperintensity over the left occipital lobe on diffusion-weighted imaging, suggesting a transient ischaemic attack"	""


## Screenings ## Do not remove or alter this header ##
## Count = 6
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"
"0000000170"	"00000155"	"1"	"00002"	"00002"	"2020-11-18 10:14:24"	""	""	"PCR;SEQ"	"DNA"
"0000000171"	"00000156"	"1"	"00002"	"00002"	"2020-11-18 10:22:56"	""	""	"PCR;SEQ"	"DNA"
"0000000172"	"00000157"	"1"	"00002"	"00002"	"2020-11-18 10:32:14"	""	""	"PCR;SEQ"	"DNA"
"0000000173"	"00000158"	"1"	"00002"	"00002"	"2020-11-18 10:42:14"	""	""	"PCR;SEQ"	"DNA"
"0000000174"	"00000159"	"1"	"00002"	"00002"	"2020-11-18 11:08:43"	""	""	"PCR;SEQ"	"DNA"
"0000000878"	"00000784"	"1"	"00004"	"00004"	"2021-07-14 10:22:28"	""	""	"PCR;SEQ"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{geneid}}"
"0000000170"	"NOTCH3"
"0000000171"	"NOTCH3"
"0000000172"	"NOTCH3"
"0000000173"	"NOTCH3"
"0000000174"	"NOTCH3"
"0000000878"	"NOTCH3"


## 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}}"
"0000000784"	"0"	"00"	"19"	"15187315"	"15187315"	"subst"	"0"	"00002"	"NOTCH3_000001"	"g.15187315G>A"	"1"	"{dbSNP:rs201118034},  {ClinVar:546089}"	"R544C"	""	"rs201118034"
"0000000785"	"0"	"00"	"19"	"15187315"	"15187315"	"subst"	"0"	"00002"	"NOTCH3_000001"	"g.15187315G>A"	"1"	"{dbSNP:rs201118034},  {ClinVar:546089}"	"R544C"	""	"rs201118034"
"0000000786"	"0"	"00"	"19"	"15192389"	"15192389"	"subst"	"0"	"00002"	"NOTCH3_000002"	"g.15192389G>A"	"1"	"{dbSNP:rs775836288}, {ClinVar:447831}"	"R110C"	""	"rs775836288"
"0000000787"	"0"	"90"	"19"	"15192086"	"15192086"	"subst"	"0"	"00002"	"NOTCH3_000003"	"g.15192086A>C"	"1"	""	"C185G"	""	"rs1566975069"
"0000000788"	"0"	"00"	"19"	"15197537"	"15197537"	"subst"	"0"	"00002"	"NOTCH3_000004"	"g.15197537G>A"	"2"	"{PMID:Kheng-Seang Lim et al. (2015):26270344}, {dbSNP:rs1555730189}, {ClinVar:447791}"	"R54C"	""	"rs1555730189"
"0000000789"	"0"	"00"	"19"	"15188237"	"15188237"	"subst"	"0"	"00002"	"NOTCH3_000005"	"g.15188237G>A"	"6"	"{PMID:Kheng-Seang Lim et al. (2015):26270344}, {dbSNP:rs114207045}, {ClinVar:256121}"	"S497L"	""	"rs114207045"
"0000003058"	"0"	"90"	"19"	"15192389"	"15192389"	"subst"	"0"	"00004"	"NOTCH3_000002"	"g.15192389G>A"	""	"DOI:Hong Chuan Loh et al.(2021):10.36877/pddbs.a0000200"	""	""	"rs775836288"


## 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 NOTCH3
## 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}}"
"0000000784"	"00000039"	"00"	"1630"	"0"	"1630"	"0"	"c.1630C>T"	"11"	"p.(Arg544Cys)"	"r.(?)"	""	""	"{ClinVar:546089}"
"0000000785"	"00000039"	"00"	"1630"	"0"	"1630"	"0"	"c.1630C>T"	"11"	"p.(Arg544Cys)"	"r.(?)"	""	""	"{ClinVar:546089}"
"0000000786"	"00000039"	"00"	"328"	"0"	"328"	"0"	"c.328C>T"	"3"	"p.(Arg110Cys)"	"r.(?)"	""	""	"{ClinVar:447831}"
"0000000787"	"00000039"	"90"	"553"	"0"	"553"	"0"	"c.553T>G"	"4"	"p.(Cys185Gly)"	"r.(?)"	""	""	""
"0000000788"	"00000039"	"00"	"160"	"0"	"160"	"0"	"c.160C>T"	"2"	"p.(Arg54Cys)"	"r.(?)"	""	""	"{ClinVar:447791}"
"0000000789"	"00000039"	"00"	"1490"	"0"	"1490"	"0"	"c.1490C>T"	"9"	"p.(Ser497Leu)"	"r.(?)"	""	""	"{ClinVar:256121}"
"0000003058"	"00000039"	"90"	"328"	"0"	"328"	"0"	"c.328C>T"	"3"	"p.(Arg110Cys)"	"r.(?)"	"R110C"	""	"Pathogenic"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}"	"{{variantid}}"
"0000000170"	"0000000784"
"0000000171"	"0000000785"
"0000000172"	"0000000786"
"0000000173"	"0000000787"
"0000000174"	"0000000788"
"0000000174"	"0000000789"
"0000000878"	"0000003058"