### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = RAB28)
# 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}}"
"RAB28"	"RAB28, member RAS oncogene family"	"4"	"p16.1"	"unknown"	"NG_033891.1"	"UD_136090441183"	""	"https://www.LOVD.nl/RAB28"	""	"1"	"9768"	"9364"	"612994"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/RAB28_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2020-11-11 09:48:29"	"00006"	"2024-05-30 14:19:34"


## 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}}"
"00017316"	"RAB28"	"transcript variant 1"	"001"	"NM_001017979.2"	""	"NP_001017979.1"	""	""	""	"-215"	"1501"	"666"	"13485989"	"13369347"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00058"	"CORD"	"dystrophy, cone-rod (CORD)"	""	""	""	""	""	"00006"	"2012-09-22 11:31:25"	"00006"	"2020-08-30 09:43:59"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"03915"	"CORD18"	"dystrophy, cone-rod, type 18 (CORD18)"	"AR"	"615374"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2020-11-11 09:48:50"
"04210"	"LCA"	"Leber congenital amaurosis (LCA)"	""	""	""	""	""	"00006"	"2015-02-27 18:57:11"	""	""
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04249"	"macular dystrophy"	"dystrophy, macular"	""	""	""	""	""	"00006"	"2015-05-04 22:10:58"	"00006"	"2024-02-15 21:18:39"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"RAB28"	"00058"
"RAB28"	"03915"


## Individuals ## Do not remove or alter this header ##
## Count = 19
"{{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}}"
"00155527"	""	""	""	"2"	""	"01243"	"Sharon, submitted"	""	"F"	"yes"	"Israel"	""	"0"	""	""	"Morocco;Jewish"	""
"00309330"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309613"	""	""	""	"3"	""	"00006"	"{PMID:Roosing 2013:23746546}"	"2-generation family, 3 affected 2(F, M), unaffected parents"	""	""	"Germany"	""	"0"	""	""	""	"FamA"
"00309614"	""	""	""	"2"	""	"00006"	"{PMID:Roosing 2013:23746546}"	"2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents"	""	"yes"	"Morocco"	""	"0"	""	""	"Jewish"	"FamB"
"00309615"	""	""	""	"1"	""	"00006"	"{PMID:Riveiro-Alvarez 2015:25356532}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Spain"	""	"0"	""	""	""	"MD-0312"
"00309616"	""	""	""	"1"	""	"00006"	"{PMID:Riveiro-Alvarez 2015:25356532}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"Spain"	""	"0"	""	""	""	"MD-0448"
"00309617"	""	""	""	"1"	""	"00006"	"{PMID:Lee 2017:28388261}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"Korea"	""	"0"	""	""	""	"patient"
"00309618"	""	""	""	"2"	""	"00006"	"{PMID:Jespersgaard 2020:32084271}"	"4-generation family, 2 affected (2M), unaffected heterozygous carrier parents"	"M"	""	"Denmark"	""	"0"	""	""	""	"family"
"00362922"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2016:26766544}"	"family"	""	""	"Germany"	""	"0"	""	""	""	"CHRO249"
"00375430"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:25268133}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"RP#024"
"00379750"	""	""	""	"1"	""	"03508"	""	""	"F"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_GH_0094"
"00379758"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_GH_0104"
"00382590"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"452"
"00386247"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-214, proband"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-482"
"00447003"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"ARRP-460"
"00447543"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"CRD-838"
"00450967"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"072206"
"00450968"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"072241"
"00450969"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"080604"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 19
"{{individualid}}"	"{{diseaseid}}"
"00155527"	"04210"
"00309330"	"04214"
"00309613"	"04214"
"00309614"	"04214"
"00309615"	"04214"
"00309616"	"04214"
"00309617"	"04214"
"00309618"	"04214"
"00362922"	"04214"
"00375430"	"04214"
"00379750"	"00058"
"00379758"	"00058"
"00382590"	"04214"
"00386247"	"04214"
"00447003"	"00198"
"00447543"	"00198"
"00450967"	"04249"
"00450968"	"04249"
"00450969"	"04249"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00058, 00198, 03915, 04210, 04214, 04249
## Count = 19
"{{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}}"
"0000128027"	"04210"	"00155527"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000234650"	"04214"	"00309330"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone–rod dystrophy"	""
"0000234933"	"04214"	"00309613"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000234934"	"04214"	"00309614"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000234935"	"04214"	"00309615"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000234936"	"04214"	"00309616"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000234937"	"04214"	"00309617"	"00006"	"Familial, autosomal recessive"	"11y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000234938"	"04214"	"00309618"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000258288"	"04214"	"00362922"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000270644"	"04214"	"00375430"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000273604"	"00058"	"00379750"	"03508"	"Familial, autosomal recessive"	""	"HP:0000662,\tHP:0000613,\tHP:0001123,\tHP:0000551,\tHP:0000548"	""	""	""	""	""	""	""	""	""	"dystrophy, cone-rod (CORD)"	""
"0000273612"	"00058"	"00379758"	"03508"	"Familial, autosomal recessive"	""	"HP:0030515,\tHP:0000613,\tHP:0001129,\tHP:0000551,\tHP:0000548"	""	""	""	""	""	""	""	""	""	"dystrophy, cone-rod (CORD)"	""
"0000276439"	"04214"	"00382590"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000280050"	"04214"	"00386247"	"00000"	"Familial, autosomal recessive"	"25y"	""	""	"24y"	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000336202"	"00198"	"00447003"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000336742"	"00198"	"00447543"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000340022"	"04249"	"00450967"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000340023"	"04249"	"00450968"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000340024"	"04249"	"00450969"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""


## Screenings ## Do not remove or alter this header ##
## Count = 19
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000156392"	"00155527"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000310475"	"00309330"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310758"	"00309613"	"1"	"00006"	"00006"	"2020-08-29 16:26:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000310759"	"00309614"	"1"	"00006"	"00006"	"2020-08-29 16:26:36"	""	""	"SEQ"	"DNA"	""	""
"0000310760"	"00309615"	"1"	"00006"	"00006"	"2020-08-29 16:26:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000310761"	"00309616"	"1"	"00006"	"00006"	"2020-08-29 16:26:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000310762"	"00309617"	"1"	"00006"	"00006"	"2020-08-29 16:26:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"98-gene panel"
"0000310763"	"00309618"	"1"	"00006"	"00006"	"2020-08-29 16:26:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"125 gene panel"
"0000364150"	"00362922"	"1"	"00000"	"00006"	"2021-04-23 19:25:57"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000376627"	"00375430"	"1"	"00000"	"00006"	"2021-06-04 09:36:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000380951"	"00379750"	"1"	"03508"	"03508"	"2021-08-09 04:12:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000380959"	"00379758"	"1"	"03508"	"03508"	"2021-08-09 04:58:50"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383804"	"00382590"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000387476"	"00386247"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000448580"	"00447003"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449120"	"00447543"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000452565"	"00450967"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452566"	"00450968"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452567"	"00450969"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 11
"{{screeningid}}"	"{{geneid}}"
"0000156392"	"RAB28"
"0000310475"	"RAB28"
"0000310758"	"RAB28"
"0000310759"	"RAB28"
"0000310760"	"RAB28"
"0000310761"	"RAB28"
"0000310762"	"RAB28"
"0000310763"	"RAB28"
"0000364150"	"RAB28"
"0000383804"	"RAB28"
"0000387476"	"USH2A"


## 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 = 33
"{{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}}"
"0000246245"	"0"	"10"	"4"	"13371521"	"13371521"	"subst"	"1.22149E-5"	"02330"	"RAB28_000007"	"g.13371521A>G"	""	""	""	"RAB28(NM_004249.4):c.642T>C (p.S214=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13369897A>G"	""	"benign"	""
"0000246246"	"0"	"10"	"4"	"13371584"	"13371584"	"subst"	"0.00435517"	"02330"	"RAB28_000002"	"g.13371584A>G"	""	""	""	"RAB28(NM_004249.3):c.579T>C (p.I193=), RAB28(NM_004249.4):c.579T>C (p.I193=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13369960A>G"	""	"benign"	""
"0000246287"	"0"	"50"	"4"	"13462337"	"13462337"	"subst"	"0"	"02330"	"RAB28_000003"	"g.13462337A>C"	""	""	""	"RAB28(NM_004249.4):c.377T>G (p.L126W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13460713A>C"	""	"VUS"	""
"0000294633"	"0"	"10"	"4"	"13485793"	"13485793"	"subst"	"0.000157719"	"02330"	"RAB28_000006"	"g.13485793C>T"	""	""	""	"RAB28(NM_004249.4):c.-19G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13484169C>T"	""	"benign"	""
"0000294634"	"0"	"30"	"4"	"13371497"	"13371497"	"subst"	"0.000455505"	"02330"	"RAB28_000001"	"g.13371497G>A"	""	""	""	"RAB28(NM_004249.4):c.*3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13369873G>A"	""	"likely benign"	""
"0000294635"	"0"	"30"	"4"	"13485753"	"13485753"	"subst"	"0.000100071"	"02330"	"RAB28_000005"	"g.13485753T>A"	""	""	""	"RAB28(NM_004249.4):c.22A>T (p.S8C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13484129T>A"	""	"likely benign"	""
"0000294636"	"0"	"10"	"4"	"13485724"	"13485724"	"subst"	"0"	"02330"	"RAB28_000004"	"g.13485724C>A"	""	""	""	"RAB28(NM_004249.4):c.51G>T (p.V17=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13484100C>A"	""	"benign"	""
"0000358314"	"3"	"90"	"4"	"13383201"	"13383201"	"subst"	"8.1485E-6"	"01243"	"RAB28_000008"	"g.13383201G>A"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.13381577G>A"	""	"pathogenic"	""
"0000521677"	"0"	"50"	"4"	"13370254"	"13370254"	"subst"	"0.000130709"	"01943"	"RAB28_000009"	"g.13370254A>C"	""	""	""	"RAB28(NM_001017979.2):c.594T>G (p.I198M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13368630A>C"	""	"VUS"	""
"0000521678"	"0"	"30"	"4"	"13371584"	"13371584"	"subst"	"0.00435517"	"01943"	"RAB28_000002"	"g.13371584A>G"	""	""	""	"RAB28(NM_004249.3):c.579T>C (p.I193=), RAB28(NM_004249.4):c.579T>C (p.I193=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13369960A>G"	""	"likely benign"	""
"0000521680"	"0"	"50"	"4"	"13462337"	"13462337"	"subst"	"0"	"02327"	"RAB28_000003"	"g.13462337A>C"	""	""	""	"RAB28(NM_004249.4):c.377T>G (p.L126W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13460713A>C"	""	"VUS"	""
"0000521682"	"0"	"30"	"4"	"13481048"	"13481048"	"subst"	"0"	"01943"	"RAB28_000010"	"g.13481048T>G"	""	""	""	"RAB28(NM_004249.3):c.172+6A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13479424T>G"	""	"likely benign"	""
"0000655099"	"0"	"90"	"4"	"13476015"	"13476015"	"del"	"0"	"01943"	"RAB28_000011"	"g.13476015del"	""	""	""	"RAB28(NM_004249.3):c.190delC (p.L64Ffs*6)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13474391del"	""	"pathogenic"	""
"0000677198"	"0"	"50"	"4"	"13371589"	"13371589"	"subst"	"3.27694E-5"	"01943"	"RAB28_000012"	"g.13371589G>A"	""	""	""	"RAB28(NM_004249.3):c.574C>T (p.R192C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000685386"	"0"	"90"	"4"	"13383201"	"13383201"	"subst"	"8.1485E-6"	"00004"	"RAB28_000008"	"g.13383201G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685736"	"3"	"90"	"4"	"13378177"	"13378177"	"subst"	"0"	"00006"	"RAB28_000014"	"g.13378177G>A"	""	"{PMID:Roosing 2013:23746546}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.13376553G>A"	""	"pathogenic (recessive)"	""
"0000685737"	"3"	"90"	"4"	"13383201"	"13383201"	"subst"	"8.1485E-6"	"00006"	"RAB28_000008"	"g.13383201G>A"	""	"{PMID:Roosing 2013:23746546}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.13381577G>A"	""	"pathogenic (recessive)"	""
"0000685738"	"3"	"90"	"4"	"13481053"	"13481053"	"subst"	"0"	"00006"	"RAB28_000015"	"g.13481053C>G"	""	"{PMID:Riveiro-Alvarez 2015:25356532}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.13479429C>G"	""	"pathogenic (recessive)"	""
"0000685739"	"3"	"90"	"4"	"13371512"	"13371512"	"subst"	"4.07578E-6"	"00006"	"RAB28_000013"	"g.13371512A>C"	""	"{PMID:Riveiro-Alvarez 2015:25356532}"	""	"NM_004249.3:c.651T>G (Cys217Trp)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000685740"	"3"	"90"	"4"	"13485707"	"13485707"	"subst"	"3.28392E-5"	"00006"	"RAB28_000016"	"g.13485707G>A"	""	"{PMID:Lee 2017:28388261}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.13484083G>A"	""	"pathogenic (recessive)"	""
"0000685741"	"3"	"90"	"4"	"13485720"	"13485720"	"subst"	"0"	"00006"	"RAB28_000017"	"g.13485720C>T"	""	"{PMID:Jespersgaard 2020:32084271}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.13484096C>T"	""	"pathogenic (recessive)"	""
"0000764912"	"3"	"70"	"4"	"13378177"	"13378177"	"subst"	"0"	"00000"	"RAB28_000014"	"g.13378177G>A"	""	"{PMID:Weisschuh 2016:26766544}"	""	"565G>A"	""	"Germline"	""	""	"0"	""	""	"g.13376553G>A"	""	"likely pathogenic (recessive)"	""
"0000788483"	"0"	"50"	"4"	"13370273"	"13370273"	"subst"	"0"	"00000"	"RAB28_000018"	"g.13370273C>T"	""	"{PMID:Katagiri 2014:25268133}"	""	"G575A"	""	"Germline"	""	""	"0"	""	""	"g.13368649C>T"	""	"VUS"	""
"0000794197"	"3"	"70"	"4"	"13485707"	"13485707"	"subst"	"3.28392E-5"	"03508"	"RAB28_000016"	"g.13485707G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000794208"	"3"	"70"	"4"	"13485707"	"13485707"	"subst"	"3.28392E-5"	"03508"	"RAB28_000016"	"g.13485707G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000798062"	"3"	"50"	"4"	"13485720"	"13485720"	"subst"	"0"	"00000"	"RAB28_000017"	"g.13485720C>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"RAB28 c.55G>A, p.(Gly19Arg), c.55G>A, p.(Gly19Arg)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.13484096C>T"	""	"VUS"	"ACMG"
"0000815509"	"0"	"50"	"4"	"13370238"	"13370238"	"subst"	"1.2255E-5"	"00000"	"RAB28_000019"	"g.13370238C>T"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"RAB28:NM_004249 c.G610A, p.E204K"	"heterozygous, individual solved, variant non-causal"	"Germline"	"?"	""	"0"	""	""	"g.13368614C>T"	""	"VUS"	"ACMG"
"0000850527"	"0"	"90"	"4"	"13481126"	"13481126"	"subst"	"0"	"01943"	"RAB28_000020"	"g.13481126G>A"	""	""	""	"RAB28(NM_004249.3):c.100C>T (p.Q34*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000958454"	"0"	"50"	"4"	"13371553"	"13371553"	"subst"	"0"	"00006"	"RAB28_000021"	"g.13371553C>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	"NM_004249.2:c.610G>T (Glu204*)"	"ACMG PM2, PVS1_MODERATE"	"Germline"	""	""	"0"	""	""	"g.13369929C>A"	""	"VUS"	"ACMG"
"0000958887"	"3"	"50"	"4"	"13475995"	"13475995"	"subst"	"4.14322E-6"	"00006"	"RAB28_000022"	"g.13475995C>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2"	"Germline"	""	""	"0"	""	""	"g.13474371C>T"	""	"VUS"	"ACMG"
"0000986548"	"3"	"50"	"4"	"13462452"	"13462452"	"subst"	"0"	"04405"	"RAB28_000023"	"g.13462452C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.13460828C>T"	""	"VUS"	"ACMG"
"0000986549"	"3"	"50"	"4"	"13462452"	"13462452"	"subst"	"0"	"04405"	"RAB28_000023"	"g.13462452C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.13460828C>T"	""	"VUS"	"ACMG"
"0000986550"	"3"	"70"	"4"	"13476000"	"13476000"	"subst"	"0"	"04405"	"RAB28_000024"	"g.13476000T>C"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.13474376T>C"	""	"likely pathogenic"	"ACMG"


## 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 RAB28
## Count = 33
"{{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}}"
"0000246245"	"00017316"	"10"	"574"	"-1247"	"574"	"-1247"	"c.574-1247T>C"	"r.(=)"	"p.(=)"	""
"0000246246"	"00017316"	"10"	"574"	"-1310"	"574"	"-1310"	"c.574-1310T>C"	"r.(=)"	"p.(=)"	""
"0000246287"	"00017316"	"50"	"377"	"0"	"377"	"0"	"c.377T>G"	"r.(?)"	"p.(Leu126Trp)"	""
"0000294633"	"00017316"	"10"	"-19"	"0"	"-19"	"0"	"c.-19G>A"	"r.(?)"	"p.(=)"	""
"0000294634"	"00017316"	"30"	"574"	"-1223"	"574"	"-1223"	"c.574-1223C>T"	"r.(=)"	"p.(=)"	""
"0000294635"	"00017316"	"30"	"22"	"0"	"22"	"0"	"c.22A>T"	"r.(?)"	"p.(Ser8Cys)"	""
"0000294636"	"00017316"	"10"	"51"	"0"	"51"	"0"	"c.51G>T"	"r.(?)"	"p.(Val17=)"	""
"0000358314"	"00017316"	"90"	"409"	"0"	"409"	"0"	"c.409C>T"	"r.(?)"	"p.(Arg137*)"	"5"
"0000521677"	"00017316"	"50"	"594"	"0"	"594"	"0"	"c.594T>G"	"r.(?)"	"p.(Ile198Met)"	""
"0000521678"	"00017316"	"30"	"574"	"-1310"	"574"	"-1310"	"c.574-1310T>C"	"r.(=)"	"p.(=)"	""
"0000521680"	"00017316"	"50"	"377"	"0"	"377"	"0"	"c.377T>G"	"r.(?)"	"p.(Leu126Trp)"	""
"0000521682"	"00017316"	"30"	"172"	"6"	"172"	"6"	"c.172+6A>C"	"r.(=)"	"p.(=)"	""
"0000655099"	"00017316"	"90"	"190"	"0"	"190"	"0"	"c.190del"	"r.(?)"	"p.(Leu64PhefsTer6)"	""
"0000677198"	"00017316"	"50"	"574"	"-1315"	"574"	"-1315"	"c.574-1315C>T"	"r.(=)"	"p.(=)"	""
"0000685386"	"00017316"	"90"	"409"	"0"	"409"	"0"	"c.409C>T"	"r.(?)"	"p.(Arg137*)"	""
"0000685736"	"00017316"	"90"	"565"	"0"	"565"	"0"	"c.565C>T"	"r.(?)"	"p.(Arg137*)"	"6"
"0000685737"	"00017316"	"90"	"409"	"0"	"409"	"0"	"c.409C>T"	"r.(?)"	"p.(Arg137*)"	"5"
"0000685738"	"00017316"	"90"	"172"	"1"	"172"	"1"	"c.172+1G>C"	"r.spl"	"p.?"	"2i"
"0000685739"	"00017316"	"90"	"574"	"-1238"	"574"	"-1238"	"c.574-1238T>G"	"r.(?)"	"p.(=)"	""
"0000685740"	"00017316"	"90"	"68"	"0"	"68"	"0"	"c.68C>T"	"r.(?)"	"p.(Ser23Phe)"	"1"
"0000685741"	"00017316"	"90"	"55"	"0"	"55"	"0"	"c.55G>A"	"r.(?)"	"p.(Gly19Arg)"	"1"
"0000764912"	"00017316"	"70"	"565"	"0"	"565"	"0"	"c.565C>T"	"r.(?)"	"p.(Gln189Ter)"	""
"0000788483"	"00017316"	"50"	"575"	"0"	"575"	"0"	"c.575G>A"	"r.(?)"	"p.(Arg192Lys)"	"7"
"0000794197"	"00017316"	"70"	"68"	"0"	"68"	"0"	"c.68C>T"	"r.(?)"	"p.(Ser23Phe)"	""
"0000794208"	"00017316"	"70"	"68"	"0"	"68"	"0"	"c.68C>T"	"r.(?)"	"p.(Ser23Phe)"	""
"0000798062"	"00017316"	"50"	"55"	"0"	"55"	"0"	"c.55G>A"	"r.(?)"	"p.(Gly19Arg)"	""
"0000815509"	"00017316"	"50"	"610"	"0"	"610"	"0"	"c.610G>A"	"r.(?)"	"p.(Glu204Lys)"	""
"0000850527"	"00017316"	"90"	"100"	"0"	"100"	"0"	"c.100C>T"	"r.(?)"	"p.(Gln34*)"	""
"0000958454"	"00017316"	"50"	"574"	"-1279"	"574"	"-1279"	"c.574-1279G>T"	"r.spl?"	"p.(?)"	""
"0000958887"	"00017316"	"50"	"208"	"0"	"208"	"0"	"c.208G>A"	"r.(?)"	"p.(Gly70Arg)"	""
"0000986548"	"00017316"	"50"	"262"	"0"	"262"	"0"	"c.262G>A"	"r.(?)"	"p.(Gly88Arg)"	"4"
"0000986549"	"00017316"	"50"	"262"	"0"	"262"	"0"	"c.262G>A"	"r.(?)"	"p.(Gly88Arg)"	"4"
"0000986550"	"00017316"	"70"	"203"	"0"	"203"	"0"	"c.203A>G"	"r.(?)"	"p.(Asp68Gly)"	"3"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 19
"{{screeningid}}"	"{{variantid}}"
"0000156392"	"0000358314"
"0000310475"	"0000685386"
"0000310758"	"0000685736"
"0000310759"	"0000685737"
"0000310760"	"0000685738"
"0000310761"	"0000685739"
"0000310762"	"0000685740"
"0000310763"	"0000685741"
"0000364150"	"0000764912"
"0000376627"	"0000788483"
"0000380951"	"0000794197"
"0000380959"	"0000794208"
"0000383804"	"0000798062"
"0000387476"	"0000815509"
"0000448580"	"0000958454"
"0000449120"	"0000958887"
"0000452565"	"0000986548"
"0000452566"	"0000986549"
"0000452567"	"0000986550"