### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CD109)
# 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}}"
"CD109"	"CD109 molecule"	"6"	"q14.1"	"unknown"	"NG_033971.1"	"UD_132465122623"	""	"http://www.LOVD.nl/CD109"	""	"1"	"21685"	"135228"	"608859"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/CD109_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2015-06-23 13:54:59"	"00006"	"2025-12-14 09:28:17"


## 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}}"
"00004738"	"CD109"	"transcript variant 1"	"003"	"NM_133493.3"	""	"NP_598000.2"	""	""	""	"-425"	"9022"	"4338"	"74405514"	"74538041"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{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"
"07213"	"FMAIT"	"fetomaternal alloimmune thrombocytopenia"	""	""	""	""	""	"00006"	"2025-12-10 15:54:10"	"00006"	"2025-12-13 18:58:46"


## 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}}"
"00050621"	""	""	""	"2"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, affected parents"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00470939"	""	""	""	"3"	""	"00006"	"{PMID:Schuh 2002:11861285}"	""	""	""	"Canada"	""	"0"	""	""	""	"control"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00050621"	"00198"
"00470939"	"07213"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 07213
## Count = 2
"{{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}}"
"0000037233"	"00198"	"00050621"	"00006"	"Unknown"	""	"global developmental delay, aggressive behavior, restrictive behavior, microcephaly, abnormal facial shape, macrotia, abnormality of eye movement"	""	""	""	""	""	""	""	""	""	""	""
"0000355803"	"07213"	"00470939"	"00006"	"Familial"	""	"see paper; ..., refractoriness to platelet transfusion, neonatal alloimmune thrombocytopenia, posttransfusion purpura"	""	""	""	""	""	""	""	""	""	"fetomaternal alloimmune thrombocytopenia"	""


## 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}}"
"0000050566"	"00050621"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000472604"	"00470939"	"1"	"00006"	"00006"	"2025-12-14 09:22:40"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000472604"	"CD109"


## 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 = 9
"{{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}}"
"0000079546"	"21"	"90"	"6"	"73709065"	"76815249"	"del"	"0"	"00006"	"KHDC3L_000005"	"g.73709065_76815249del"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"decreased gene dosage"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000529498"	"0"	"30"	"6"	"74497110"	"74497110"	"subst"	"0"	"01804"	"CD109_000001"	"g.74497110C>A"	""	""	""	"CD109(NM_001159587.1):c.2491C>A (p.(Pro831Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.73787387C>A"	""	"likely benign"	""
"0000655643"	"0"	"30"	"6"	"74497102"	"74497102"	"subst"	"0.0261353"	"01804"	"CD109_000002"	"g.74497102G>A"	""	""	""	"CD109(NM_001159587.1):c.2483G>A (p.(Gly828Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.73787379G>A"	""	"likely benign"	""
"0000655644"	"0"	"30"	"6"	"74516631"	"74516631"	"subst"	"0.015461"	"01804"	"CD109_000003"	"g.74516631G>A"	""	""	""	"CD109(NM_001159587.1):c.3025G>A (p.(Val1009Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.73806908G>A"	""	"likely benign"	""
"0000977333"	"0"	"30"	"6"	"74405949"	"74405949"	"subst"	"0.00134376"	"01804"	"CD109_000004"	"g.74405949C>G"	""	""	""	"CD109(NM_133493.5):c.11C>G (p.(Pro4Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000977334"	"0"	"30"	"6"	"74473330"	"74473330"	"subst"	"0.00113574"	"01804"	"CD109_000005"	"g.74473330C>A"	""	""	""	"CD109(NM_133493.5):c.1029C>A (p.(Phe343Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000995871"	"0"	"30"	"6"	"74476720"	"74476720"	"subst"	"0"	"01804"	"CD109_000006"	"g.74476720A>G"	""	""	""	"CD109(NM_001159587.1):c.1484A>G (p.(Glu495Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001035898"	"0"	"50"	"6"	"74516767"	"74516767"	"subst"	"0.000187435"	"01804"	"CD109_000007"	"g.74516767C>G"	""	""	""	"CD109(NM_133493.5):c.3161C>G (p.(Thr1054Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001061253"	"3"	"50"	"6"	"74493432"	"74493432"	"subst"	"0.510965"	"00006"	"CD109_000008"	"g.74493432A>C"	""	"{PMID:Schuh 2002:11861285}"	"BstNI+"	""	"variant implicated in causing fetomaternal platelet incompatibility with maternal antibodies crossing the placenta"	"Germline"	""	""	"0"	""	""	"g.73783709A>C"	""	"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 CD109
## Count = 9
"{{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}}"	"{{VariantOnTranscript/Haplotype}}"
"0000079546"	"00004738"	"00"	"-696874"	"0"	"2286230"	"0"	"c.-696874_*2281892del"	"r.0?"	"p.0?"	""	""
"0000529498"	"00004738"	"30"	"2491"	"0"	"2491"	"0"	"c.2491C>A"	"r.(?)"	"p.(Pro831Thr)"	""	""
"0000655643"	"00004738"	"30"	"2483"	"0"	"2483"	"0"	"c.2483G>A"	"r.(?)"	"p.(Gly828Glu)"	""	""
"0000655644"	"00004738"	"30"	"3025"	"0"	"3025"	"0"	"c.3025G>A"	"r.(?)"	"p.(Val1009Met)"	""	""
"0000977333"	"00004738"	"30"	"11"	"0"	"11"	"0"	"c.11C>G"	"r.(?)"	"p.(Pro4Arg)"	""	""
"0000977334"	"00004738"	"30"	"1029"	"0"	"1029"	"0"	"c.1029C>A"	"r.(?)"	"p.(Phe343Leu)"	""	""
"0000995871"	"00004738"	"30"	"1484"	"0"	"1484"	"0"	"c.1484A>G"	"r.(?)"	"p.(Glu495Gly)"	""	""
"0001035898"	"00004738"	"50"	"3161"	"0"	"3161"	"0"	"c.3161C>G"	"r.(?)"	"p.(Thr1054Ser)"	""	""
"0001061253"	"00004738"	"50"	"2108"	"0"	"2108"	"0"	"c.2108A>C"	"r.2108A>C"	"p.Tyr703Ser"	""	"HPA-15A;GOV"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000050566"	"0000079546"
"0000472604"	"0001061253"