### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GPR179)
# 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}}"
"GPR179" "G protein-coupled receptor 179" "17" "q21.1" "unknown" "NG_032655.2" "UD_132464464401" "" "https://www.LOVD.nl/GPR179" "" "1" "31371" "440435" "614515" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/GPR179_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-13 00:00:00" "00006" "2020-11-22 21:13:48" "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}}"
"00008874" "GPR179" "G protein-coupled receptor 179" "001" "NM_001004334.2" "" "NP_001004334.2" "" "" "" "-21" "7959" "7104" "36499693" "36481493" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"03680" "CSNB1E" "blindness, night, stationary, congenital, type 1E (CSNB1E)" "AR" "614565" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-22 21:14:33"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"05130" "CSNB" "blindness, night, stationary, congenital (CSNB)" "" "" "" "" "" "00006" "2016-02-03 23:24:36" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"GPR179" "03680"
## Individuals ## Do not remove or alter this header ##
## Count = 36
"{{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}}"
"00087820" "" "" "" "1" "" "00233" "{PMID:Audo 2012:22325361}" "" "" "" "" "" "0" "" "" "" ""
"00087821" "" "" "" "1" "" "00233" "{PMID:Audo 2012:22325361}" "" "" "" "" "" "0" "" "" "" ""
"00087822" "" "" "" "1" "" "00233" "{PMID:Audo 2012:22325361}" "" "" "" "" "" "0" "" "" "" ""
"00087823" "" "" "" "1" "" "00233" "{PMID:Audo 2012:22325361}" "" "" "" "" "" "0" "" "" "" ""
"00088061" "" "" "" "1" "" "00243" "" "" "F" "yes" "India" "" "0" "" "" "Indian" ""
"00291688" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00291690" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00291691" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00291692" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00309836" "" "" "" "1" "" "00006" "{PMID:Shah 2018:30300315}" "" "F" "" "United States" "" "0" "" "" "white" ""
"00327981" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G001012"
"00328859" "" "" "" "1" "" "00000" "{PMID:Zhong 2019:30996589}" "2-generation family, 1 affected, unaffected parents" "M" "no" "China" "" "0" "" "" "" "Fam20289PatII1"
"00332556" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" ""
"00333359" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat10"
"00363662" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG1962"
"00363747" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "14DG0286"
"00372498" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "171"
"00375403" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00375404" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00375411" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#002"
"00375432" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#027"
"00376848" "" "" "" "1" "" "00000" "{PMID:Malaichamy 2014:24715752}" "see paper" "" "" "India" "" "0" "" "" "" "Pat3"
"00381266" "" "" "" "2" "" "00008" "{PMID:Bijveld-2013:23714322}" "1 female, 1 male" "" "" "Netherlands" "" "0" "" "" "Dutch" ""
"00382549" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "411"
"00382601" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "464"
"00384167" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2904"
"00389080" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 122, congenital stationary night blindness, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "364"
"00390268" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001012"
"00391757" "" "" "" "1" "" "00000" "{PMID:DiScipio 2020:32881472}" "" "M" "" "" "" "0" "" "" "" "2.II:1"
"00413673" "" "" "" "1" "" "00000" "{PMID:Peachey 2012:22325362}" "proband" "M" "" "" "" "0" "" "" "" "proband 1"
"00413674" "" "" "" "1" "" "00000" "{PMID:Peachey 2012:22325362}" "proband" "F" "" "" "" "0" "" "" "Norwegian" "proband 2"
"00426936" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 40, individual 48" "M" "" "" "" "0" "" "" "" "40_48"
"00429589" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00447132" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "CSNB-146"
"00447327" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-1283"
"00447717" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1255"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 36
"{{individualid}}" "{{diseaseid}}"
"00087820" "05130"
"00087821" "05130"
"00087822" "05130"
"00087823" "05130"
"00088061" "03680"
"00291688" "00198"
"00291690" "00198"
"00291691" "00198"
"00291692" "00198"
"00309836" "04214"
"00327981" "04214"
"00328859" "04214"
"00332556" "00198"
"00333359" "04214"
"00363662" "04214"
"00363747" "04214"
"00372498" "04214"
"00375403" "04214"
"00375404" "04214"
"00375411" "04214"
"00375432" "04214"
"00376848" "04214"
"00381266" "04214"
"00382549" "04214"
"00382601" "04214"
"00384167" "04214"
"00389080" "04214"
"00390268" "04214"
"00391757" "04214"
"00413673" "04214"
"00413674" "04214"
"00426936" "04214"
"00429589" "00112"
"00447132" "00198"
"00447327" "00198"
"00447717" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 03680, 04214, 05130
## Count = 32
"{{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}}"
"0000067351" "05130" "00087820" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000067352" "05130" "00087821" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000067353" "05130" "00087822" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000067354" "05130" "00087823" "00233" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000067568" "03680" "00088061" "00243" "Familial, autosomal recessive" "" "" "0d" "11" "" "" "" "" "" "" "" "" ""
"0000235150" "04214" "00309836" "00006" "Unknown" "65y" "see paper; ..." "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" ""
"0000246208" "04214" "00327981" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" ""
"0000247063" "04214" "00328859" "00000" "Familial, autosomal recessive" "38y" "see paper; ..., poor vision, nystagmus, pronounced maculopathy, peripheral hyperpigmentation, retinal vascular attenuation" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000250744" "00198" "00332556" "01807" "Unknown" "" "Congenital stationary night blindness (HP:0007642)" "" "" "" "" "" "" "" "" "" "" ""
"0000251546" "04214" "00333359" "00000" "Familial, autosomal dominant" "37y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000259012" "04214" "00363662" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" ""
"0000259097" "04214" "00363747" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" ""
"0000267813" "04214" "00372498" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000270617" "04214" "00375403" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" ""
"0000270618" "04214" "00375404" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" ""
"0000270625" "04214" "00375411" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270646" "04214" "00375432" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000272057" "04214" "00376848" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" ""
"0000275117" "04214" "00381266" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" ""
"0000276398" "04214" "00382549" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000276450" "04214" "00382601" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000277952" "04214" "00384167" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" ""
"0000282621" "04214" "00389080" "00000" "Familial, autosomal recessive" "12y" "age at genetic diagnosis mentioned" "" "9y" "" "" "" "" "" "" "congenital stationary night blindness" "" ""
"0000283806" "04214" "00390268" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000285080" "04214" "00391757" "00000" "Familial, autosomal recessive" "17y" "Right exotropia - infancy, Nyctalopia at 11 years, visual acuity right/left eye: 20/70: 20/40, Contrast Sensitivity: 1.65:165, Color vision: normal, Refractive error :-7.75+1.50 × 108:, -7.75+1.50 × 70, Tilted disc;, tessellated, background; dull, FR, Fundus autofluorescence: not done, Optical Coherence Tomography: normal central retinal thickness and laminati" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" ""
"0000305638" "04214" "00413673" "00000" "Familial, autosomal recessive" "" "best corrected visual acuity: 20/70 both eyes, mild myopic refractive error, congenital nystagmus, a history of early onset night blindness, a normal retinal appearance and full Goldmann visual fields; electroretinogram: dark-adapted conditions: the ERG b-wave recorded to a low luminance markedly reduced in amplitude, high flash luminance: robust a-wave without the subsequent b-wave seen in controls; light-adapted conditions: a square a-wave, retaining a late positive ERG component" "" "10y" "night blindness" "" "" "" "" "" "congenital stationary night blindness" "" ""
"0000305639" "04214" "00413674" "00000" "Familial, autosomal recessive" "" "rotatory nystagmus, a very unusual blond fundus, and congenital night blindness; best corrected visual acuity and refraction: 20/30 and - 12.00 D; electroretinogram: dark-adapted conditions: the ERG b-wave recorded to a low luminance markedly reduced in amplitude, high flash luminance: robust a-wave without the subsequent b-wave seen in controls; light-adapted conditions: a square a-wave, retaining a late positive ERG component" "" "20y" "night blindness" "" "" "" "" "" "congenital stationary night blindness" "" ""
"0000318074" "04214" "00426936" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "rod-cone dystrophy" ""
"0000320461" "00112" "00429589" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000336331" "00198" "00447132" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" ""
"0000336526" "00198" "00447327" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" ""
"0000336916" "00198" "00447717" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" ""
## Screenings ## Do not remove or alter this header ##
## Count = 36
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000087960" "00087820" "1" "00233" "00233" "2012-08-09 09:16:30" "00006" "2013-07-21 18:53:51" "SEQ" "DNA" "" ""
"0000087961" "00087821" "1" "00233" "00233" "2012-08-09 09:16:30" "00006" "2013-07-21 18:53:51" "SEQ" "DNA" "" ""
"0000087962" "00087822" "1" "00233" "00233" "2012-08-09 09:16:30" "00006" "2013-07-21 18:53:51" "SEQ" "DNA" "" ""
"0000087963" "00087823" "1" "00233" "00233" "2012-08-09 09:16:30" "00006" "2013-07-21 18:53:51" "SEQ" "DNA" "" ""
"0000088201" "00088061" "1" "00243" "00243" "2013-07-16 12:44:58" "" "" "SEQ" "DNA" "" ""
"0000292856" "00291688" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000292858" "00291690" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000292859" "00291691" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000292860" "00291692" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000310981" "00309836" "1" "00006" "00006" "2020-09-04 09:03:30" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000329196" "00327981" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000330075" "00328859" "1" "00000" "00006" "2021-02-01 15:57:20" "" "" "SEQ" "DNA" "" ""
"0000333780" "00332556" "1" "01807" "01807" "2021-02-22 10:22:01" "" "" "SEQ" "DNA" "" ""
"0000334584" "00333359" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel"
"0000364890" "00363662" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364975" "00363747" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000373731" "00372498" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000376600" "00375403" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" ""
"0000376601" "00375404" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" ""
"0000376608" "00375411" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000376629" "00375432" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000378053" "00376848" "1" "00000" "00006" "2021-06-25 16:50:55" "" "" "SEQ" "DNA" "" "5-gene panel"
"0000382481" "00381266" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" ""
"0000383763" "00382549" "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"
"0000383815" "00382601" "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"
"0000385392" "00384167" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000390323" "00389080" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper"
"0000391509" "00390268" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000393000" "00391757" "1" "00000" "03840" "2021-11-18 15:02:57" "" "" "SEQ-NG" "DNA" "blood" "Panel-based testing"
"0000414953" "00413673" "1" "00000" "03840" "2022-07-21 13:09:08" "" "" "SEQ" "DNA" "blood" ""
"0000414954" "00413674" "1" "00000" "03840" "2022-07-21 13:09:08" "" "" "SEQ" "DNA" "blood" ""
"0000428256" "00426936" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing"
"0000431002" "00429589" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000448709" "00447132" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448904" "00447327" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449294" "00447717" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 25
"{{screeningid}}" "{{geneid}}"
"0000087960" "GPR179"
"0000087961" "GPR179"
"0000087962" "GPR179"
"0000087963" "GPR179"
"0000088201" "GPR179"
"0000329196" "GPR179"
"0000330075" "RPE65"
"0000334584" "RHO"
"0000364890" "GPR179"
"0000364975" "GPR179"
"0000373731" "RPE65"
"0000376600" "GPR179"
"0000376601" "GPR179"
"0000378053" "GPR179"
"0000382481" "GPR179"
"0000383763" "GPR179"
"0000383815" "GPR179"
"0000385392" "GPR179"
"0000390323" "GPR179"
"0000391509" "GPR179"
"0000393000" "GPR179"
"0000414953" "GPR179"
"0000414954" "GPR179"
"0000428256" "RPGR"
"0000431002" "GPR179"
## 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 = 198
"{{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}}"
"0000140627" "0" "95" "17" "36499014" "36499014" "subst" "6.09177E-5" "00233" "GPR179_000004" "g.36499014T>C" "" "{PMID:Audo 2012:22325361}" "" "" "submitted through SIB; {EXP:067926}" "Unknown" "" "" "0" "" "" "g.38343131T>C" "" "pathogenic" ""
"0000140628" "0" "95" "17" "36491516" "36491516" "subst" "4.0625E-6" "00233" "GPR179_000003" "g.36491516C>T" "" "{PMID:Audo 2012:22325361}" "" "" "submitted through SIB; {EXP:067927}" "Unknown" "" "" "0" "" "" "g.38335633C>T" "" "pathogenic" ""
"0000140629" "0" "95" "17" "36489899" "36489899" "subst" "0" "00233" "GPR179_000002" "g.36489899G>A" "" "{PMID:Audo 2012:22325361}" "" "" "submitted through SIB; {EXP:067928}" "Unknown" "" "" "0" "" "" "g.38334016G>A" "" "pathogenic" ""
"0000140630" "0" "95" "17" "36499297" "36499297" "subst" "4.06171E-6" "00233" "GPR179_000001" "g.36499297C>G" "" "{PMID:Audo 2012:22325361}" "" "" "submitted through SIB; {EXP:067925}" "Unknown" "" "" "0" "" "" "g.38343414C>G" "" "pathogenic" ""
"0000140631" "3" "55" "17" "36489895" "36489895" "subst" "4.06921E-6" "00243" "GPR179_000005" "g.36489895G>A" "2/222" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.38334012G>A" "" "VUS" ""
"0000247431" "0" "10" "17" "36482628" "36482628" "subst" "0.00112898" "02330" "GPR179_000006" "g.36482628A>G" "" "" "" "GPR179(NM_001004334.3):c.6824T>C (p.L2275P), GPR179(NM_001004334.4):c.6824T>C (p.L2275P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38326745A>G" "" "benign" ""
"0000247450" "0" "10" "17" "36490622" "36490622" "subst" "8.14226E-6" "02330" "GPR179_000037" "g.36490622A>G" "" "" "" "GPR179(NM_001004334.4):c.1749T>C (p.N583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38334739A>G" "" "benign" ""
"0000247453" "0" "10" "17" "36485311" "36485311" "subst" "0.00123053" "02330" "GPR179_000022" "g.36485311A>G" "" "" "" "GPR179(NM_001004334.4):c.4141T>C (p.C1381R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38329428A>G" "" "benign" ""
"0000247483" "0" "50" "17" "36493055" "36493055" "subst" "1.23181E-5" "02330" "GPR179_000045" "g.36493055A>G" "" "" "" "GPR179(NM_001004334.4):c.1033T>C (p.F345L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38337172A>G" "" "VUS" ""
"0000253377" "0" "10" "17" "36482628" "36482628" "subst" "0.00112898" "01943" "GPR179_000006" "g.36482628A>G" "" "" "" "GPR179(NM_001004334.3):c.6824T>C (p.L2275P), GPR179(NM_001004334.4):c.6824T>C (p.L2275P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38326745A>G" "" "benign" ""
"0000253682" "0" "10" "17" "36485998" "36485998" "subst" "0.00648461" "01943" "GPR179_000026" "g.36485998A>G" "" "" "" "GPR179(NM_001004334.3):c.3454T>C (p.S1152P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38330115A>G" "" "benign" ""
"0000254735" "0" "30" "17" "36499527" "36499527" "subst" "0" "01943" "GPR179_000059" "g.36499527A>G" "" "" "" "GPR179(NM_001004334.3):c.146T>C (p.M49T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38343644A>G" "" "likely benign" ""
"0000254995" "0" "30" "17" "36493586" "36493586" "subst" "0.00973873" "01943" "GPR179_000049" "g.36493586A>T" "" "" "" "GPR179(NM_001004334.3):c.921T>A (p.S307R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38337703A>T" "" "likely benign" ""
"0000277427" "0" "10" "17" "36492948" "36492948" "subst" "0.000155397" "02330" "GPR179_000043" "g.36492948C>T" "" "" "" "GPR179(NM_001004334.4):c.1140G>A (p.L380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38337065C>T" "" "benign" ""
"0000277428" "0" "50" "17" "36491131" "36491131" "subst" "7.05975E-5" "02330" "GPR179_000039" "g.36491131C>T" "" "" "" "GPR179(NM_001004334.4):c.1430G>A (p.R477Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38335248C>T" "" "VUS" ""
"0000277429" "0" "10" "17" "36489149" "36489149" "subst" "0.00118423" "02330" "GPR179_000035" "g.36489149G>A" "" "" "" "GPR179(NM_001004334.3):c.2022C>T (p.D674=), GPR179(NM_001004334.4):c.2022C>T (p.D674=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38333266G>A" "" "benign" ""
"0000277430" "0" "10" "17" "36486464" "36486464" "subst" "0.00214324" "02330" "GPR179_000032" "g.36486464C>T" "" "" "" "GPR179(NM_001004334.4):c.2988G>A (p.E996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38330581C>T" "" "benign" ""
"0000277431" "0" "10" "17" "36486335" "36486335" "subst" "9.72465E-5" "02330" "GPR179_000031" "g.36486335T>A" "" "" "" "GPR179(NM_001004334.4):c.3117A>T (p.K1039N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38330452T>A" "" "benign" ""
"0000277432" "0" "50" "17" "36486135" "36486135" "subst" "1.73006E-5" "02330" "GPR179_000030" "g.36486135C>T" "" "" "" "GPR179(NM_001004334.4):c.3317G>A (p.S1106N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38330252C>T" "" "VUS" ""
"0000277433" "0" "10" "17" "36486041" "36486041" "subst" "0.00020431" "02330" "GPR179_000029" "g.36486041C>T" "" "" "" "GPR179(NM_001004334.4):c.3411G>A (p.A1137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38330158C>T" "" "benign" ""
"0000277434" "0" "10" "17" "36486011" "36486011" "subst" "0.000388176" "02330" "GPR179_000028" "g.36486011G>A" "" "" "" "GPR179(NM_001004334.3):c.3441C>T (p.S1147=), GPR179(NM_001004334.4):c.3441C>T (p.S1147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38330128G>A" "" "benign" ""
"0000277435" "0" "30" "17" "36486010" "36486010" "subst" "2.08636E-5" "02330" "GPR179_000027" "g.36486010C>T" "" "" "" "GPR179(NM_001004334.4):c.3442G>A (p.D1148N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38330127C>T" "" "likely benign" ""
"0000277436" "0" "30" "17" "36499324" "36499324" "subst" "0" "02330" "GPR179_000057" "g.36499324C>A" "" "" "" "GPR179(NM_001004334.4):c.349G>T (p.D117Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38343441C>A" "" "likely benign" ""
"0000277437" "0" "50" "17" "36485795" "36485796" "del" "0.000166504" "02330" "GPR179_000025" "g.36485795_36485796del" "" "" "" "GPR179(NM_001004334.4):c.3656_3657delCT (p.P1219Rfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38329912_38329913del" "" "VUS" ""
"0000277438" "0" "10" "17" "36485532" "36485532" "subst" "0.000991217" "02330" "GPR179_000023" "g.36485532C>T" "" "" "" "GPR179(NM_001004334.4):c.3920G>A (p.R1307Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38329649C>T" "" "benign" ""
"0000277439" "0" "10" "17" "36485093" "36485093" "subst" "4.06435E-6" "02330" "GPR179_000020" "g.36485093C>G" "" "" "" "GPR179(NM_001004334.4):c.4359G>C (p.G1453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38329210C>G" "" "benign" ""
"0000277440" "0" "10" "17" "36499622" "36499622" "subst" "5.26155E-6" "02330" "GPR179_000060" "g.36499622G>A" "" "" "" "GPR179(NM_001004334.4):c.51C>T (p.G17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38343739G>A" "" "benign" ""
"0000277443" "0" "10" "17" "36483584" "36483584" "subst" "0.00083684" "02330" "GPR179_000014" "g.36483584G>A" "" "" "" "GPR179(NM_001004334.4):c.5868C>T (p.S1956=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38327701G>A" "" "benign" ""
"0000277444" "0" "10" "17" "36483477" "36483477" "subst" "0.00197486" "02330" "GPR179_000013" "g.36483477C>T" "" "" "" "GPR179(NM_001004334.3):c.5975G>A (p.G1992D), GPR179(NM_001004334.4):c.5975G>A (p.G1992D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38327594C>T" "" "benign" ""
"0000277445" "0" "30" "17" "36483374" "36483374" "subst" "3.24878E-5" "02330" "GPR179_000012" "g.36483374T>A" "" "" "" "GPR179(NM_001004334.4):c.6078A>T (p.R2026S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38327491T>A" "" "likely benign" ""
"0000277446" "0" "10" "17" "36483125" "36483125" "subst" "0" "02330" "GPR179_000010" "g.36483125G>C" "" "" "" "GPR179(NM_001004334.4):c.6327C>G (p.T2109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38327242G>C" "" "benign" ""
"0000277447" "0" "10" "17" "36483116" "36483116" "subst" "0.00372152" "02330" "GPR179_000009" "g.36483116C>T" "" "" "" "GPR179(NM_001004334.3):c.6336G>A (p.A2112=), GPR179(NM_001004334.4):c.6336G>A (p.A2112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38327233C>T" "" "benign" ""
"0000277448" "0" "10" "17" "36499028" "36499028" "subst" "0.00138902" "02330" "GPR179_000054" "g.36499028C>T" "" "" "" "GPR179(NM_001004334.4):c.645G>A (p.P215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38343145C>T" "" "benign" ""
"0000277449" "0" "10" "17" "36495412" "36495412" "subst" "0.000394665" "02330" "GPR179_000052" "g.36495412C>T" "" "" "" "GPR179(NM_001004334.3):c.795-4G>A, GPR179(NM_001004334.4):c.795-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38339529C>T" "" "benign" ""
"0000277450" "0" "10" "17" "36495389" "36495389" "subst" "0.000402181" "02330" "GPR179_000051" "g.36495389C>T" "" "" "" "GPR179(NM_001004334.4):c.814G>A (p.V272I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38339506C>T" "" "benign" ""
"0000277451" "0" "30" "17" "36493548" "36493548" "subst" "0.00196235" "02330" "GPR179_000048" "g.36493548C>T" "" "" "" "GPR179(NM_001004334.3):c.959G>A (p.R320Q), GPR179(NM_001004334.4):c.959G>A (p.R320Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38337665C>T" "" "likely benign" ""
"0000277452" "0" "30" "17" "36493524" "36493524" "subst" "3.71483E-5" "02330" "GPR179_000047" "g.36493524G>A" "" "" "" "GPR179(NM_001004334.4):c.983C>T (p.P328L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38337641G>A" "" "likely benign" ""
"0000288632" "0" "50" "17" "36493058" "36493058" "subst" "0.000119299" "01943" "GPR179_000046" "g.36493058C>T" "" "" "" "GPR179(NM_001004334.3):c.1030G>A (p.G344R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38337175C>T" "" "VUS" ""
"0000288633" "0" "30" "17" "36492955" "36492955" "subst" "0.00101779" "01943" "GPR179_000044" "g.36492955G>A" "" "" "" "GPR179(NM_001004334.3):c.1133C>T (p.A378V), GPR179(NM_001004334.4):c.1133C>T (p.A378V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38337072G>A" "" "likely benign" ""
"0000288634" "0" "50" "17" "36492941" "36492941" "subst" "6.49857E-5" "01943" "GPR179_000042" "g.36492941C>T" "" "" "" "GPR179(NM_001004334.3):c.1147G>A (p.A383T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38337058C>T" "" "VUS" ""
"0000288635" "0" "50" "17" "36492019" "36492019" "subst" "4.87325E-5" "01943" "GPR179_000041" "g.36492019C>G" "" "" "" "GPR179(NM_001004334.3):c.1236G>C (p.W412C), GPR179(NM_001004334.4):c.1236G>C (p.W412C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38336136C>G" "" "VUS" ""
"0000288636" "0" "90" "17" "36491531" "36491531" "subst" "0" "01943" "GPR179_000040" "g.36491531C>T" "" "" "" "GPR179(NM_001004334.3):c.1349G>A (p.W450*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38335648C>T" "" "pathogenic" ""
"0000288637" "0" "50" "17" "36491033" "36491033" "subst" "0.000299383" "01943" "GPR179_000038" "g.36491033C>T" "" "" "" "GPR179(NM_001004334.3):c.1528G>A (p.V510M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38335150C>T" "" "VUS" ""
"0000288638" "0" "30" "17" "36489867" "36489867" "subst" "8.54819E-5" "01943" "GPR179_000036" "g.36489867G>A" "" "" "" "GPR179(NM_001004334.3):c.1839C>T (p.F613=), GPR179(NM_001004334.4):c.1839C>T (p.F613=, p.(Phe613=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38333984G>A" "" "likely benign" ""
"0000288639" "0" "10" "17" "36489149" "36489149" "subst" "0.00118423" "01943" "GPR179_000035" "g.36489149G>A" "" "" "" "GPR179(NM_001004334.3):c.2022C>T (p.D674=), GPR179(NM_001004334.4):c.2022C>T (p.D674=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38333266G>A" "" "benign" ""
"0000288640" "0" "50" "17" "36487039" "36487039" "subst" "0.00139462" "01943" "GPR179_000034" "g.36487039C>G" "" "" "" "GPR179(NM_001004334.3):c.2413G>C (p.E805Q), GPR179(NM_001004334.4):c.2413G>C (p.E805Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38331156C>G" "" "VUS" ""
"0000288641" "0" "30" "17" "36499416" "36499416" "subst" "3.66901E-5" "01943" "GPR179_000058" "g.36499416C>T" "" "" "" "GPR179(NM_001004334.3):c.257G>A (p.G86E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38343533C>T" "" "likely benign" ""
"0000288642" "0" "10" "17" "36486848" "36486848" "subst" "0.0047877" "01943" "GPR179_000033" "g.36486848C>G" "" "" "" "GPR179(NM_001004334.3):c.2604G>C (p.E868D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38330965C>G" "" "benign" ""
"0000288643" "0" "30" "17" "36486011" "36486011" "subst" "0.000388176" "01943" "GPR179_000028" "g.36486011G>A" "" "" "" "GPR179(NM_001004334.3):c.3441C>T (p.S1147=), GPR179(NM_001004334.4):c.3441C>T (p.S1147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38330128G>A" "" "likely benign" ""
"0000288644" "0" "10" "17" "36485772" "36485772" "subst" "0.0107295" "01943" "GPR179_000024" "g.36485772T>C" "" "" "" "GPR179(NM_001004334.3):c.3680A>G (p.K1227R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38329889T>C" "" "benign" ""
"0000288645" "0" "50" "17" "36485116" "36485116" "subst" "4.06646E-6" "01943" "GPR179_000021" "g.36485116G>A" "" "" "" "GPR179(NM_001004334.3):c.4336C>T (p.P1446S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38329233G>A" "" "VUS" ""
"0000288646" "0" "30" "17" "36485003" "36485003" "subst" "3.25074E-5" "01943" "GPR179_000019" "g.36485003C>T" "" "" "" "GPR179(NM_001004334.3):c.4449G>A (p.L1483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38329120C>T" "" "likely benign" ""
"0000288647" "0" "50" "17" "36484689" "36484689" "subst" "0.000101532" "01943" "GPR179_000018" "g.36484689G>A" "" "" "" "GPR179(NM_001004334.3):c.4763C>T (p.A1588V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38328806G>A" "" "VUS" ""
"0000288648" "0" "50" "17" "36484615" "36484617" "del" "0" "01943" "GPR179_000017" "g.36484615_36484617del" "" "" "" "GPR179(NM_001004334.3):c.4841_4843delGAG (p.G1614del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38328732_38328734del" "" "VUS" ""
"0000288649" "0" "30" "17" "36484067" "36484067" "subst" "0.0165206" "01943" "GPR179_000016" "g.36484067G>A" "" "" "" "GPR179(NM_001004334.3):c.5385C>T (p.G1795=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38328184G>A" "" "likely benign" ""
"0000288650" "0" "30" "17" "36483846" "36483846" "subst" "0.000223634" "01943" "GPR179_000015" "g.36483846T>G" "" "" "" "GPR179(NM_001004334.3):c.5606A>C (p.Q1869P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38327963T>G" "" "likely benign" ""
"0000288652" "0" "30" "17" "36483477" "36483477" "subst" "0.00197486" "01943" "GPR179_000013" "g.36483477C>T" "" "" "" "GPR179(NM_001004334.3):c.5975G>A (p.G1992D), GPR179(NM_001004334.4):c.5975G>A (p.G1992D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38327594C>T" "" "likely benign" ""
"0000288653" "0" "30" "17" "36483181" "36483181" "subst" "4.87504E-5" "01943" "GPR179_000011" "g.36483181G>T" "" "" "" "GPR179(NM_001004334.3):c.6271C>A (p.P2091T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38327298G>T" "" "likely benign" ""
"0000288654" "0" "30" "17" "36499046" "36499046" "subst" "0.000653988" "01943" "GPR179_000055" "g.36499046G>A" "" "" "" "GPR179(NM_001004334.3):c.627C>T (p.L209=), GPR179(NM_001004334.4):c.627C>T (p.L209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38343163G>A" "" "likely benign" ""
"0000288655" "0" "30" "17" "36483116" "36483116" "subst" "0.00372152" "01943" "GPR179_000009" "g.36483116C>T" "" "" "" "GPR179(NM_001004334.3):c.6336G>A (p.A2112=), GPR179(NM_001004334.4):c.6336G>A (p.A2112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38327233C>T" "" "likely benign" ""
"0000288656" "0" "30" "17" "36482922" "36482922" "subst" "4.87357E-5" "01943" "GPR179_000008" "g.36482922C>G" "" "" "" "GPR179(NM_001004334.3):c.6530G>C (p.R2177T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38327039C>G" "" "likely benign" ""
"0000288657" "0" "30" "17" "36499016" "36499016" "subst" "0.00147832" "01943" "GPR179_000053" "g.36499016T>A" "" "" "" "GPR179(NM_001004334.3):c.657A>T (p.G219=), GPR179(NM_001004334.4):c.657A>T (p.G219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38343133T>A" "" "likely benign" ""
"0000288658" "0" "30" "17" "36482742" "36482742" "subst" "4.87381E-5" "01943" "GPR179_000007" "g.36482742G>A" "" "" "" "GPR179(NM_001004334.3):c.6710C>T (p.T2237I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38326859G>A" "" "likely benign" ""
"0000288659" "0" "30" "17" "36495412" "36495412" "subst" "0.000394665" "01943" "GPR179_000052" "g.36495412C>T" "" "" "" "GPR179(NM_001004334.3):c.795-4G>A, GPR179(NM_001004334.4):c.795-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38339529C>T" "" "likely benign" ""
"0000288660" "0" "50" "17" "36493597" "36493597" "subst" "0" "01943" "GPR179_000050" "g.36493597G>A" "" "" "" "GPR179(NM_001004334.3):c.910C>T (p.P304S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38337714G>A" "" "VUS" ""
"0000348262" "0" "10" "17" "36483522" "36483522" "subst" "0.024588" "02327" "GPR179_000062" "g.36483522G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38327639G>T" "" "benign" ""
"0000348829" "0" "50" "17" "36483007" "36483007" "subst" "2.03067E-5" "02327" "GPR179_000061" "g.36483007A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38327124A>G" "" "VUS" ""
"0000561135" "0" "10" "17" "36482438" "36482438" "subst" "0.000231478" "02330" "GPR179_000063" "g.36482438C>T" "" "" "" "GPR179(NM_001004334.4):c.7014G>A (p.S2338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38326555C>T" "" "benign" ""
"0000561136" "0" "50" "17" "36482454" "36482454" "subst" "0.000101526" "02330" "GPR179_000064" "g.36482454G>C" "" "" "" "GPR179(NM_001004334.4):c.6998C>G (p.A2333G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38326571G>C" "" "VUS" ""
"0000561137" "0" "50" "17" "36482769" "36482769" "subst" "2.0307E-5" "02330" "GPR179_000065" "g.36482769T>G" "" "" "" "GPR179(NM_001004334.4):c.6683A>C (p.D2228A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38326886T>G" "" "VUS" ""
"0000561138" "0" "50" "17" "36483019" "36483019" "subst" "4.06213E-6" "02330" "GPR179_000066" "g.36483019G>A" "" "" "" "GPR179(NM_001004334.4):c.6433C>T (p.Q2145*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38327136G>A" "" "VUS" ""
"0000561139" "0" "30" "17" "36483469" "36483469" "subst" "6.90855E-5" "01804" "GPR179_000067" "g.36483469C>T" "" "" "" "GPR179(NM_001004334.2):c.5983G>A (p.(Ala1995Thr)), GPR179(NM_001004334.3):c.5983G>A (p.A1995T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38327586C>T" "" "likely benign" ""
"0000561140" "0" "50" "17" "36483583" "36483583" "subst" "0.000467191" "02330" "GPR179_000068" "g.36483583C>T" "" "" "" "GPR179(NM_001004334.4):c.5869G>A (p.V1957I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38327700C>T" "" "VUS" ""
"0000561142" "0" "30" "17" "36483889" "36483889" "subst" "0.00260389" "02330" "GPR179_000070" "g.36483889G>C" "" "" "" "GPR179(NM_001004334.2):c.5563C>G (p.(Leu1855Val)), GPR179(NM_001004334.4):c.5563C>G (p.L1855V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38328006G>C" "" "likely benign" ""
"0000561143" "0" "50" "17" "36484004" "36484004" "subst" "2.84615E-5" "02330" "GPR179_000071" "g.36484004C>G" "" "" "" "GPR179(NM_001004334.4):c.5448G>C (p.K1816N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38328121C>G" "" "VUS" ""
"0000561144" "0" "30" "17" "36484031" "36484031" "subst" "0" "01943" "GPR179_000072" "g.36484031C>T" "" "" "" "GPR179(NM_001004334.3):c.5421G>A (p.Q1807=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38328148C>T" "" "likely benign" ""
"0000561146" "0" "10" "17" "36484433" "36484433" "subst" "0.00183333" "02330" "GPR179_000074" "g.36484433G>C" "" "" "" "GPR179(NM_001004334.3):c.5019C>G (p.T1673=), GPR179(NM_001004334.4):c.5019C>G (p.T1673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38328550G>C" "" "benign" ""
"0000561147" "0" "30" "17" "36484512" "36484512" "subst" "8.12447E-6" "01943" "GPR179_000075" "g.36484512G>A" "" "" "" "GPR179(NM_001004334.3):c.4940C>T (p.A1647V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38328629G>A" "" "likely benign" ""
"0000561148" "0" "50" "17" "36484967" "36484967" "del" "0" "02330" "GPR179_000076" "g.36484967del" "" "" "" "GPR179(NM_001004334.4):c.4488delG (p.T1497Qfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38329084del" "" "VUS" ""
"0000561149" "0" "10" "17" "36485146" "36485146" "subst" "0.00308961" "02330" "GPR179_000077" "g.36485146G>A" "" "" "" "GPR179(NM_001004334.3):c.4306C>T (p.R1436W), GPR179(NM_001004334.4):c.4306C>T (p.R1436W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38329263G>A" "" "benign" ""
"0000561151" "0" "10" "17" "36485390" "36485390" "subst" "0" "02330" "GPR179_000079" "g.36485390C>T" "" "" "" "GPR179(NM_001004334.4):c.4062G>A (p.E1354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38329507C>T" "" "benign" ""
"0000561152" "0" "30" "17" "36485473" "36485473" "subst" "0.00208904" "01804" "GPR179_000080" "g.36485473C>T" "" "" "" "GPR179(NM_001004334.2):c.3979G>A (p.(Asp1327Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38329590C>T" "" "likely benign" ""
"0000561153" "0" "30" "17" "36485482" "36485482" "subst" "0.000146289" "02330" "GPR179_000081" "g.36485482C>T" "" "" "" "GPR179(NM_001004334.3):c.3970G>A (p.E1324K), GPR179(NM_001004334.4):c.3970G>A (p.E1324K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38329599C>T" "" "likely benign" ""
"0000561154" "0" "50" "17" "36485482" "36485482" "subst" "0.000146289" "01943" "GPR179_000081" "g.36485482C>T" "" "" "" "GPR179(NM_001004334.3):c.3970G>A (p.E1324K), GPR179(NM_001004334.4):c.3970G>A (p.E1324K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38329599C>T" "" "VUS" ""
"0000561157" "0" "10" "17" "36485605" "36485605" "subst" "0.00392361" "02330" "GPR179_000083" "g.36485605G>A" "" "" "" "GPR179(NM_001004334.3):c.3847C>T (p.P1283S), GPR179(NM_001004334.4):c.3847C>T (p.P1283S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38329722G>A" "" "benign" ""
"0000561158" "0" "50" "17" "36485605" "36485605" "subst" "0.00392361" "01943" "GPR179_000083" "g.36485605G>A" "" "" "" "GPR179(NM_001004334.3):c.3847C>T (p.P1283S), GPR179(NM_001004334.4):c.3847C>T (p.P1283S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38329722G>A" "" "VUS" ""
"0000561160" "0" "50" "17" "36485779" "36485779" "subst" "8.12229E-5" "02330" "GPR179_000084" "g.36485779G>T" "" "" "" "GPR179(NM_001004334.4):c.3673C>A (p.L1225M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38329896G>T" "" "VUS" ""
"0000561161" "0" "50" "17" "36485923" "36485925" "del" "0" "01804" "GPR179_000085" "g.36485923_36485925del" "" "" "" "GPR179(NM_001004334.2):c.3531_3533del (p.(Glu1177del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38330040_38330042del" "" "VUS" ""
"0000561162" "0" "50" "17" "36485940" "36485943" "del" "0" "01943" "GPR179_000086" "g.36485940_36485943del" "" "" "" "GPR179(NM_001004334.3):c.3512_3515delAGGG (p.E1171Afs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38330057_38330060del" "" "VUS" ""
"0000561164" "0" "30" "17" "36486026" "36486026" "subst" "0.00079474" "01943" "GPR179_000087" "g.36486026G>A" "" "" "" "GPR179(NM_001004334.3):c.3426C>T (p.A1142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38330143G>A" "" "likely benign" ""
"0000561165" "0" "50" "17" "36486406" "36486406" "subst" "2.51092E-5" "02330" "GPR179_000088" "g.36486406C>G" "" "" "" "GPR179(NM_001004334.4):c.3046G>C (p.E1016Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38330523C>G" "" "VUS" ""
"0000561166" "0" "30" "17" "36486528" "36486528" "subst" "0.00257774" "01804" "GPR179_000089" "g.36486528G>T" "" "" "" "GPR179(NM_001004334.2):c.2924C>A (p.(Ala975Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38330645G>T" "" "likely benign" ""
"0000561168" "0" "30" "17" "36486861" "36486861" "subst" "1.23827E-5" "01804" "GPR179_000091" "g.36486861C>T" "" "" "" "GPR179(NM_001004334.2):c.2591G>A (p.(Arg864Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38330978C>T" "" "likely benign" ""
"0000561169" "0" "10" "17" "36486995" "36486995" "subst" "3.47343E-5" "02330" "GPR179_000092" "g.36486995G>A" "" "" "" "GPR179(NM_001004334.4):c.2457C>T (p.S819=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38331112G>A" "" "benign" ""
"0000561170" "0" "30" "17" "36487039" "36487039" "subst" "0.00139462" "02330" "GPR179_000034" "g.36487039C>G" "" "" "" "GPR179(NM_001004334.3):c.2413G>C (p.E805Q), GPR179(NM_001004334.4):c.2413G>C (p.E805Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38331156C>G" "" "likely benign" ""
"0000561174" "0" "50" "17" "36489255" "36489255" "subst" "7.7383E-5" "02330" "GPR179_000096" "g.36489255C>T" "" "" "" "GPR179(NM_001004334.4):c.1916G>A (p.R639Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38333372C>T" "" "VUS" ""
"0000561175" "0" "10" "17" "36489867" "36489867" "subst" "8.54819E-5" "02330" "GPR179_000036" "g.36489867G>A" "" "" "" "GPR179(NM_001004334.3):c.1839C>T (p.F613=), GPR179(NM_001004334.4):c.1839C>T (p.F613=, p.(Phe613=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38333984G>A" "" "benign" ""
"0000561176" "0" "30" "17" "36491028" "36491028" "subst" "0.000431599" "01943" "GPR179_000097" "g.36491028G>A" "" "" "" "GPR179(NM_001004334.3):c.1533C>T (p.G511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38335145G>A" "" "likely benign" ""
"0000561177" "0" "50" "17" "36491089" "36491089" "subst" "0" "02330" "GPR179_000098" "g.36491089A>T" "" "" "" "GPR179(NM_001004334.4):c.1472T>A (p.L491Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38335206A>T" "" "VUS" ""
"0000561178" "0" "30" "17" "36492955" "36492955" "subst" "0.00101779" "02330" "GPR179_000044" "g.36492955G>A" "" "" "" "GPR179(NM_001004334.3):c.1133C>T (p.A378V), GPR179(NM_001004334.4):c.1133C>T (p.A378V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38337072G>A" "" "likely benign" ""
"0000561179" "0" "70" "17" "36493515" "36493515" "subst" "0" "02327" "GPR179_000099" "g.36493515C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38337632C>T" "" "likely pathogenic" ""
"0000561180" "0" "50" "17" "36493534" "36493534" "subst" "0.00051246" "02330" "GPR179_000100" "g.36493534C>T" "" "" "" "GPR179(NM_001004334.3):c.973G>A (p.G325R), GPR179(NM_001004334.4):c.973G>A (p.G325R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38337651C>T" "" "VUS" ""
"0000561182" "0" "50" "17" "36498912" "36498912" "subst" "1.22755E-5" "01943" "GPR179_000101" "g.36498912T>C" "" "" "" "GPR179(NM_001004334.3):c.761A>G (p.Y254C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38343029T>C" "" "VUS" ""
"0000561183" "0" "30" "17" "36499002" "36499002" "subst" "2.43665E-5" "02330" "GPR179_000102" "g.36499002G>A" "" "" "" "GPR179(NM_001004334.4):c.671C>T (p.T224M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38343119G>A" "" "likely benign" ""
"0000561184" "0" "10" "17" "36499045" "36499045" "subst" "0.00114561" "02330" "GPR179_000103" "g.36499045C>T" "" "" "" "GPR179(NM_001004334.3):c.628G>A (p.G210S), GPR179(NM_001004334.4):c.628G>A (p.G210S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38343162C>T" "" "benign" ""
"0000561185" "0" "50" "17" "36499045" "36499045" "subst" "0.00114561" "01943" "GPR179_000103" "g.36499045C>T" "" "" "" "GPR179(NM_001004334.3):c.628G>A (p.G210S), GPR179(NM_001004334.4):c.628G>A (p.G210S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38343162C>T" "" "VUS" ""
"0000561186" "0" "90" "17" "36499088" "36499088" "dup" "0" "01943" "GPR179_000104" "g.36499088dup" "" "" "" "GPR179(NM_001004334.3):c.585dupT (p.A196Cfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38343205dup" "" "pathogenic" ""
"0000561187" "0" "30" "17" "36499165" "36499165" "subst" "0.00151503" "01804" "GPR179_000105" "g.36499165C>G" "" "" "" "GPR179(NM_001004334.2):c.508G>C (p.(Gly170Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38343282C>G" "" "likely benign" ""
"0000616476" "0" "30" "17" "36484433" "36484433" "subst" "0.00183333" "01943" "GPR179_000074" "g.36484433G>C" "" "" "" "GPR179(NM_001004334.3):c.5019C>G (p.T1673=), GPR179(NM_001004334.4):c.5019C>G (p.T1673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38328550G>C" "" "likely benign" ""
"0000616477" "0" "30" "17" "36485146" "36485146" "subst" "0.00308961" "01943" "GPR179_000077" "g.36485146G>A" "" "" "" "GPR179(NM_001004334.3):c.4306C>T (p.R1436W), GPR179(NM_001004334.4):c.4306C>T (p.R1436W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38329263G>A" "" "likely benign" ""
"0000616478" "0" "30" "17" "36485312" "36485312" "subst" "0.00069854" "02330" "GPR179_000107" "g.36485312C>T" "" "" "" "GPR179(NM_001004334.4):c.4140G>A (p.P1380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38329429C>T" "" "likely benign" ""
"0000616479" "0" "30" "17" "36491106" "36491106" "subst" "0" "01943" "GPR179_000111" "g.36491106C>T" "" "" "" "GPR179(NM_001004334.3):c.1455G>A (p.L485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38335223C>T" "" "likely benign" ""
"0000616480" "0" "30" "17" "36491470" "36491470" "subst" "6.91091E-5" "01943" "GPR179_000112" "g.36491470G>A" "" "" "" "GPR179(NM_001004334.3):c.1406+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38335587G>A" "" "likely benign" ""
"0000623651" "0" "10" "17" "36483548" "36483548" "subst" "4.06359E-5" "02330" "GPR179_000106" "g.36483548G>A" "" "" "" "GPR179(NM_001004334.4):c.5904C>T (p.S1968=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38327665G>A" "" "benign" ""
"0000623652" "0" "50" "17" "36485313" "36485313" "subst" "1.62451E-5" "01943" "GPR179_000108" "g.36485313G>A" "" "" "" "GPR179(NM_001004334.3):c.4139C>T (p.P1380L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38329430G>A" "" "VUS" ""
"0000623653" "0" "50" "17" "36486051" "36486051" "subst" "0.00032343" "01943" "GPR179_000109" "g.36486051C>T" "" "" "" "GPR179(NM_001004334.3):c.3401G>A (p.R1134Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38330168C>T" "" "VUS" ""
"0000623654" "0" "30" "17" "36487146" "36487146" "subst" "0" "02330" "GPR179_000110" "g.36487146T>C" "" "" "" "GPR179(NM_001004334.4):c.2306A>G (p.H769R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38331263T>C" "" "likely benign" ""
"0000623655" "0" "30" "17" "36493518" "36493518" "subst" "0.000238181" "01943" "GPR179_000113" "g.36493518C>A" "" "" "" "GPR179(NM_001004334.3):c.989G>T (p.G330V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38337635C>A" "" "likely benign" ""
"0000623656" "0" "50" "17" "36493548" "36493548" "subst" "0.00196235" "01943" "GPR179_000048" "g.36493548C>T" "" "" "" "GPR179(NM_001004334.3):c.959G>A (p.R320Q), GPR179(NM_001004334.4):c.959G>A (p.R320Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38337665C>T" "" "VUS" ""
"0000623657" "0" "30" "17" "36499016" "36499016" "subst" "0.00147832" "02330" "GPR179_000053" "g.36499016T>A" "" "" "" "GPR179(NM_001004334.3):c.657A>T (p.G219=), GPR179(NM_001004334.4):c.657A>T (p.G219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38343133T>A" "" "likely benign" ""
"0000649545" "1" "50" "17" "36482628" "36482628" "subst" "0.00112898" "03575" "GPR179_000006" "g.36482628A>G" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; {DB:CLININrs148601715}" "Germline" "" "rs148601715" "0" "" "" "g.38326745A>G" "" "VUS" ""
"0000649547" "1" "30" "17" "36485998" "36485998" "subst" "0.00648461" "03575" "GPR179_000026" "g.36485998A>G" "10/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs149252987}" "Germline" "" "rs149252987" "0" "" "" "g.38330115A>G" "" "likely benign" ""
"0000649548" "1" "50" "17" "36486848" "36486848" "subst" "0.0047877" "03575" "GPR179_000033" "g.36486848C>G" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs201214109}" "Germline" "" "rs201214109" "0" "" "" "g.38330965C>G" "" "VUS" ""
"0000649549" "1" "70" "17" "36499324" "36499324" "subst" "1.62517E-5" "03575" "GPR179_000114" "g.36499324C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs776996552}" "Germline" "" "rs776996552" "0" "" "" "g.38343441C>T" "" "likely pathogenic" ""
"0000658091" "0" "30" "17" "36482977" "36482977" "subst" "0.000487322" "01943" "GPR179_000115" "g.36482977T>C" "" "" "" "GPR179(NM_001004334.3):c.6475A>G (p.K2159E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38327094T>C" "" "likely benign" ""
"0000680833" "0" "30" "17" "36486932" "36486932" "subst" "0" "01943" "GPR179_000116" "g.36486932C>T" "" "" "" "GPR179(NM_001004334.3):c.2520G>A (p.S840=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000680834" "0" "30" "17" "36489869" "36489869" "subst" "0" "01943" "GPR179_000117" "g.36489869A>G" "" "" "" "GPR179(NM_001004334.3):c.1837T>C (p.F613L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000680835" "0" "50" "17" "36491956" "36491956" "subst" "4.06114E-6" "02330" "GPR179_000118" "g.36491956C>G" "" "" "" "GPR179(NM_001004334.4):c.1296+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000686128" "0" "50" "17" "36493058" "36493058" "subst" "0.000119299" "00006" "GPR179_000046" "g.36493058C>T" "" "{PMID:Shah 2018:30300315}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" ""
"0000692322" "0" "70" "17" "36499014" "36499014" "subst" "6.09177E-5" "02330" "GPR179_000004" "g.36499014T>C" "" "" "" "GPR179(NM_001004334.4):c.659A>G (p.Y220C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000713319" "3" "90" "17" "36493523" "36493523" "del" "0.00052224" "00000" "GPR179_000119" "g.36493523del" "" "{PMID:Carss 2017:28041643}" "" "17:36493522AG>A ENST00000342292.4:c.984delC (Ser329LeufsTer4)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000714564" "1" "90" "17" "36483101" "36483101" "subst" "4.06329E-6" "00006" "GPR179_000120" "g.36483101C>T" "" "{PMID:Zhong 2019:30996589}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000726315" "0" "50" "17" "36482500" "36482500" "subst" "3.24894E-5" "01943" "GPR179_000121" "g.36482500G>A" "" "" "" "GPR179(NM_001004334.3):c.6952C>T (p.L2318F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000726316" "0" "50" "17" "36486718" "36486718" "subst" "3.986E-5" "01943" "GPR179_000122" "g.36486718C>T" "" "" "" "GPR179(NM_001004334.3):c.2734G>A (p.D912N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000726317" "0" "50" "17" "36492868" "36492868" "subst" "0" "01943" "GPR179_000123" "g.36492868C>T" "" "" "" "GPR179(NM_001004334.3):c.1220G>A (p.R407Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000731587" "0" "70" "17" "36489888" "36489888" "subst" "0" "01807" "GPR179_000124" "g.36489888C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000732482" "0" "50" "17" "36484855" "36484855" "subst" "8.12203E-6" "00000" "GPR179_000125" "g.36484855C>T" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.38328972C>T" "" "VUS" ""
"0000765832" "0" "70" "17" "36495339" "36495339" "subst" "0" "00000" "GPR179_000126" "g.36495339C>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.38339456C>T" "" "likely pathogenic" ""
"0000765917" "0" "70" "17" "36499324" "36499324" "subst" "1.62517E-5" "00000" "GPR179_000114" "g.36499324C>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.38343441C>T" "" "likely pathogenic" ""
"0000783970" "3" "50" "17" "36498964" "36498964" "subst" "1.21871E-5" "00000" "GPR179_000127" "g.36498964G>A" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.38343081G>A" "" "VUS" ""
"0000788235" "1" "70" "17" "36495332" "36495333" "dup" "0" "00000" "GPR179_000131" "g.36495332_36495333dup" "" "{PMID:Zeitz 2015:25307992}" "" "" "no genotype reported" "Germline" "" "" "0" "" "" "g.38339449_38339450dup" "" "likely pathogenic" ""
"0000788236" "1" "70" "17" "36491515" "36491515" "del" "0" "00000" "GPR179_000129" "g.36491515del" "" "{PMID:Zeitz 2015:25307992}" "" "" "no genotype reported" "Germline" "" "" "0" "" "" "g.38335632del" "" "likely pathogenic" ""
"0000788374" "0" "50" "17" "36492878" "36492878" "subst" "0.000545512" "00000" "GPR179_000130" "g.36492878G>A" "" "{PMID:Katagiri 2014:25268133}" "" "C1210T" "" "Germline" "" "rs147753316" "0" "" "" "g.38336995G>A" "" "VUS" ""
"0000788499" "0" "50" "17" "36485943" "36485943" "subst" "6.50147E-5" "00000" "GPR179_000128" "g.36485943C>T" "" "{PMID:Katagiri 2014:25268133}" "" "G3509A" "" "Germline" "" "" "0" "" "" "g.38330060C>T" "" "VUS" ""
"0000790720" "3" "70" "17" "36489895" "36489895" "subst" "4.06921E-6" "00000" "GPR179_000005" "g.36489895G>A" "" "{PMID:Malaichamy 2014:24715752}" "" "" "" "Germline" "" "" "0" "" "" "g.38334012G>A" "" "likely pathogenic" ""
"0000796312" "0" "90" "17" "36499014" "36499014" "subst" "6.09177E-5" "00000" "GPR179_000004" "g.36499014T>C" "" "{PMID:Bijveld 2013:23714322}" "" "c.659A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000798010" "0" "50" "17" "36483477" "36483477" "subst" "0.00197486" "00000" "GPR179_000013" "g.36483477C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "GPR179 c.4841_4843del, p.(Gly614del), c.5975G>A, p.(Gly1992Asp)" "" "Germline" "?" "" "0" "" "" "g.38327594C>T" "" "VUS" "ACMG"
"0000798011" "0" "50" "17" "36484615" "36484617" "del" "0" "00000" "GPR179_000017" "g.36484615_36484617del" "" "{PMID:Jespersgaar 2019:30718709}" "" "GPR179 c.4841_4843del, p.(Gly614del), c.5975G>A, p.(Gly1992Asp)" "" "Germline" "?" "" "0" "" "" "g.38328732_38328734del" "" "VUS" "ACMG"
"0000798079" "0" "70" "17" "36486091" "36486091" "subst" "0" "00000" "GPR179_000132" "g.36486091C>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPGR c.492G>T, p.(Trp164Cys), GPR179 c.3361G>T, p.(Glu1121*)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.38330208C>A" "" "likely pathogenic" "ACMG"
"0000807923" "0" "30" "17" "36482423" "36482423" "subst" "0" "01943" "GPR179_000133" "g.36482423G>A" "" "" "" "GPR179(NM_001004334.3):c.7029C>T (p.D2343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807924" "0" "50" "17" "36482451" "36482452" "del" "0" "01943" "GPR179_000134" "g.36482451_36482452del" "" "" "" "GPR179(NM_001004334.3):c.7001_7002delAG (p.E2334Vfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000807925" "0" "50" "17" "36485887" "36485887" "subst" "0" "02330" "GPR179_000135" "g.36485887C>A" "" "" "" "GPR179(NM_001004334.4):c.3565G>T (p.E1189*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000807926" "0" "30" "17" "36489882" "36489882" "subst" "0" "01943" "GPR179_000136" "g.36489882G>A" "" "" "" "GPR179(NM_001004334.3):c.1824C>T (p.L608=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807927" "0" "30" "17" "36499259" "36499259" "subst" "8.12645E-5" "01943" "GPR179_000137" "g.36499259G>A" "" "" "" "GPR179(NM_001004334.3):c.414C>T (p.A138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000812430" "3" "70" "17" "36491515" "36491515" "del" "0" "00000" "GPR179_000129" "g.36491515del" "" "{PMID:Martin Merida 2019:30902645}" "" "GPR179 Ex.6 c.1368del p.(Phe456Leufs*30), Ex.6 c.1368del p.(Phe456Leufs*30)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38335632del" "" "likely pathogenic" ""
"0000819668" "1" "70" "17" "36493526" "36493526" "del" "0" "00000" "GPR179_000119" "g.36493526del" "" "{PMID:Weisschuh 2020:32531858}" "" "GPR179, variant 1: c.984del/p.S329Lfs*4 , variant 2: c.984del/p.S329Lfs*4" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.38337643del" "" "likely pathogenic" ""
"0000821258" "3" "90" "17" "36493526" "36493526" "del" "0" "00000" "GPR179_000119" "g.36493526del" "" "{PMID:Turro 2020:32581362}" "" "GPR179 c.984delC, p.Ser329LeufsTer4" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38337643del" "" "pathogenic" ""
"0000823567" "3" "90" "12" "72103821" "72103821" "subst" "0" "00000" "GPR179_000001" "g.72103821A>C" "" "{PMID:DiScipio 2020:32881472}" "" "GPR179; NM_001004334.3; c.903+343G>A; g.15:36494957C>T" "homozygous" "Germline" "yes" "" "0" "" "" "g.71811481A>C" "" "pathogenic (recessive)" "ACMG"
"0000854849" "0" "50" "17" "36483469" "36483469" "subst" "6.90855E-5" "01943" "GPR179_000067" "g.36483469C>T" "" "" "" "GPR179(NM_001004334.2):c.5983G>A (p.(Ala1995Thr)), GPR179(NM_001004334.3):c.5983G>A (p.A1995T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000854850" "0" "50" "17" "36484369" "36484369" "subst" "0.000158405" "01943" "GPR179_000139" "g.36484369C>T" "" "" "" "GPR179(NM_001004334.3):c.5083G>A (p.E1695K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000854851" "0" "30" "17" "36486070" "36486070" "subst" "0" "02330" "GPR179_000142" "g.36486070G>T" "" "" "" "GPR179(NM_001004334.4):c.3382C>A (p.R1128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000854852" "0" "50" "17" "36489150" "36489150" "subst" "0" "01943" "GPR179_000144" "g.36489150T>C" "" "" "" "GPR179(NM_001004334.3):c.2021A>G (p.D674G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000854853" "0" "30" "17" "36490678" "36490678" "subst" "4.08597E-6" "01943" "GPR179_000146" "g.36490678G>T" "" "" "" "GPR179(NM_001004334.3):c.1693C>A (p.R565=), GPR179(NM_001004334.4):c.1693C>A (p.R565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000865174" "0" "30" "17" "36484363" "36484363" "subst" "0.000422431" "02330" "GPR179_000138" "g.36484363A>C" "" "" "" "GPR179(NM_001004334.4):c.5089T>G (p.L1697V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000865175" "0" "50" "17" "36485521" "36485522" "del" "0" "02330" "GPR179_000140" "g.36485521_36485522del" "" "" "" "GPR179(NM_001004334.3):c.3934_3935delAG (p.R1312Afs*36), GPR179(NM_001004334.4):c.3934_3935delAG (p.R1312Afs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000865176" "0" "90" "17" "36485521" "36485522" "del" "0" "01943" "GPR179_000140" "g.36485521_36485522del" "" "" "" "GPR179(NM_001004334.3):c.3934_3935delAG (p.R1312Afs*36), GPR179(NM_001004334.4):c.3934_3935delAG (p.R1312Afs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000865177" "0" "30" "17" "36485633" "36485633" "subst" "0.000584838" "01943" "GPR179_000141" "g.36485633G>C" "" "" "" "GPR179(NM_001004334.3):c.3819C>G (p.A1273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000865178" "0" "90" "17" "36486070" "36486070" "subst" "0.000148392" "01943" "GPR179_000143" "g.36486070G>A" "" "" "" "GPR179(NM_001004334.3):c.3382C>T (p.R1128*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000865179" "0" "50" "17" "36489232" "36489232" "subst" "0" "01943" "GPR179_000145" "g.36489232A>T" "" "" "" "GPR179(NM_001004334.3):c.1939T>A (p.C647S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000865180" "0" "50" "17" "36493534" "36493534" "subst" "0.00051246" "01943" "GPR179_000100" "g.36493534C>T" "" "" "" "GPR179(NM_001004334.3):c.973G>A (p.G325R), GPR179(NM_001004334.4):c.973G>A (p.G325R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000872674" "21" "70" "17" "36499486" "36499486" "del" "0" "00000" "GPR179_000147" "g.36499486del" "0/210 healthy control chromosomes" "{PMID:Peachey 2012:22325362}" "" "GPR179 c.187delC, p.Leu63Serfs*12" "heterozygous" "Germline" "yes" "" "0" "" "" "g.38343603del" "" "likely pathogenic (recessive)" ""
"0000872675" "11" "70" "17" "36493526" "36493526" "del" "0" "00000" "GPR179_000119" "g.36493526del" "0/210 healthy control chromosomes" "{PMID:Peachey 2012:22325362}" "" "GPR179 c.984delC, p.Ser329Leufs*4" "heterozygous" "Germline" "yes" "" "0" "" "" "g.38337643del" "" "likely pathogenic (recessive)" ""
"0000872676" "0" "70" "17" "36499014" "36499014" "subst" "6.09177E-5" "00000" "GPR179_000004" "g.36499014T>C" "0/210 healthy control chromosomes" "{PMID:Peachey 2012:22325362}" "" "GPR179 c.659A>G, p.Tyr220Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.38343131T>C" "" "likely pathogenic (recessive)" ""
"0000872677" "0" "70" "17" "36493526" "36493526" "del" "0" "00000" "GPR179_000119" "g.36493526del" "0/210 healthy control chromosomes" "{PMID:Peachey 2012:22325362}" "" "GPR179 c.984delC, p.Ser329Leufs*4" "heterozygous" "Unknown" "?" "" "0" "" "" "g.38337643del" "" "likely pathogenic (recessive)" ""
"0000893500" "0" "50" "17" "36484449" "36484449" "subst" "0" "02325" "GPR179_000148" "g.36484449G>C" "" "" "" "GPR179(NM_001004334.4):c.5003C>G (p.T1668R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000893501" "0" "30" "17" "36484577" "36484577" "subst" "0" "02330" "GPR179_000149" "g.36484577T>C" "" "" "" "GPR179(NM_001004334.4):c.4875A>G (p.G1625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000893502" "0" "30" "17" "36486581" "36486581" "subst" "6.00111E-5" "02330" "GPR179_000150" "g.36486581G>A" "" "" "" "GPR179(NM_001004334.4):c.2871C>T (p.T957=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000893503" "0" "30" "17" "36490678" "36490678" "subst" "4.08597E-6" "02330" "GPR179_000146" "g.36490678G>T" "" "" "" "GPR179(NM_001004334.3):c.1693C>A (p.R565=), GPR179(NM_001004334.4):c.1693C>A (p.R565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000893504" "0" "50" "17" "36491559" "36491559" "subst" "4.06352E-6" "02330" "GPR179_000151" "g.36491559T>G" "" "" "" "GPR179(NM_001004334.4):c.1321A>C (p.S441R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000893505" "0" "50" "17" "36492019" "36492019" "subst" "4.87325E-5" "02325" "GPR179_000041" "g.36492019C>G" "" "" "" "GPR179(NM_001004334.3):c.1236G>C (p.W412C), GPR179(NM_001004334.4):c.1236G>C (p.W412C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000893506" "0" "90" "17" "36493526" "36493526" "del" "0" "02330" "GPR179_000119" "g.36493526del" "" "" "" "GPR179(NM_001004334.2):c.984delC (p.(Ser329fs)), GPR179(NM_001004334.4):c.984delC (p.S329Lfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000893507" "0" "30" "17" "36499046" "36499046" "subst" "0.000653988" "02330" "GPR179_000055" "g.36499046G>A" "" "" "" "GPR179(NM_001004334.3):c.627C>T (p.L209=), GPR179(NM_001004334.4):c.627C>T (p.L209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000893508" "0" "50" "17" "36499531" "36499531" "subst" "0" "02325" "GPR179_000152" "g.36499531G>C" "" "" "" "GPR179(NM_001004334.4):c.142C>G (p.P48A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000905953" "0" "50" "17" "36486746" "36486747" "dup" "0" "00000" "GPR179_000153" "g.36486746_36486747dup" "" "{PMID:Zhu 2022:35456422}" "" "GPR179 c.2706_2707dup, p.(Pro903Hisfs*67)" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38330863_38330864dup" "" "VUS" "ACMG"
"0000915930" "1" "50" "17" "36487195" "36487195" "subst" "0" "04436" "GPR179_000155" "g.36487195G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.2257C>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000915931" "2" "50" "17" "36485071" "36485071" "subst" "0.000390155" "04436" "GPR179_000154" "g.36485071C>G" "" "{PMID:Panneman 2023:36819107}" "" "c.4381G>C" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000930740" "0" "30" "17" "36483464" "36483464" "subst" "5.68856E-5" "02330" "GPR179_000156" "g.36483464G>A" "" "" "" "GPR179(NM_001004334.4):c.5988C>T (p.D1996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000958195" "0" "90" "17" "36489888" "36489888" "subst" "0" "00006" "GPR179_000124" "g.36489888C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.38334005C>T" "" "pathogenic (recessive)" "ACMG"
"0000958542" "0" "90" "17" "36493526" "36493526" "del" "0" "00006" "GPR179_000119" "g.36493526del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5, PS4" "Germline" "" "" "0" "" "" "g.38337643del" "31204" "pathogenic (recessive)" "ACMG"
"0000959061" "0" "90" "17" "36493526" "36493526" "del" "0" "00006" "GPR179_000119" "g.36493526del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5, PS4; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.38337643del" "" "pathogenic (recessive)" "ACMG"
"0000959079" "0" "90" "17" "36493526" "36493526" "del" "0" "00006" "GPR179_000119" "g.36493526del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5, PS4" "Germline" "" "" "0" "" "" "g.38337643del" "" "pathogenic (recessive)" "ACMG"
"0000968834" "0" "30" "17" "36485774" "36485774" "subst" "8.12222E-6" "02330" "GPR179_000157" "g.36485774G>A" "" "" "" "GPR179(NM_001004334.4):c.3678C>T (p.P1226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000968835" "0" "30" "17" "36489298" "36489298" "subst" "2.0775E-5" "02330" "GPR179_000158" "g.36489298G>C" "" "" "" "GPR179(NM_001004334.4):c.1891-18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001003146" "0" "30" "17" "36483889" "36483889" "subst" "0.00260389" "01804" "GPR179_000070" "g.36483889G>C" "" "" "" "GPR179(NM_001004334.2):c.5563C>G (p.(Leu1855Val)), GPR179(NM_001004334.4):c.5563C>G (p.L1855V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001003147" "0" "50" "17" "36485887" "36485887" "subst" "0" "02327" "GPR179_000135" "g.36485887C>A" "" "" "" "GPR179(NM_001004334.4):c.3565G>T (p.E1189*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001003148" "0" "50" "17" "36485992" "36485992" "subst" "4.10021E-6" "02327" "GPR179_000159" "g.36485992G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001003149" "0" "90" "17" "36493526" "36493526" "del" "0" "01804" "GPR179_000119" "g.36493526del" "" "" "" "GPR179(NM_001004334.2):c.984delC (p.(Ser329fs)), GPR179(NM_001004334.4):c.984delC (p.S329Lfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001041790" "0" "50" "17" "36489867" "36489867" "subst" "8.54819E-5" "01804" "GPR179_000036" "g.36489867G>A" "" "" "" "GPR179(NM_001004334.3):c.1839C>T (p.F613=), GPR179(NM_001004334.4):c.1839C>T (p.F613=, p.(Phe613=))" "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 GPR179
## Count = 198
"{{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}}"
"0000140627" "00008874" "95" "659" "0" "659" "0" "c.659A>G" "r.(?)" "p.(Tyr220Cys)" "1"
"0000140628" "00008874" "95" "1364" "0" "1364" "0" "c.1364G>A" "r.(?)" "p.(Gly455Asp)" "6"
"0000140629" "00008874" "95" "1807" "0" "1807" "0" "c.1807C>T" "r.(?)" "p.(His603Tyr)" "9"
"0000140630" "00008874" "95" "376" "0" "376" "0" "c.376G>C" "r.(?)" "p.(Asp126His)" "1"
"0000140631" "00008874" "55" "1811" "0" "1811" "0" "c.1811C>T" "r.(?)" "p.(Pro604Leu)" "9"
"0000247431" "00008874" "10" "6824" "0" "6824" "0" "c.6824T>C" "r.(?)" "p.(Leu2275Pro)" ""
"0000247450" "00008874" "10" "1749" "0" "1749" "0" "c.1749T>C" "r.(?)" "p.(Asn583=)" ""
"0000247453" "00008874" "10" "4141" "0" "4141" "0" "c.4141T>C" "r.(?)" "p.(Cys1381Arg)" ""
"0000247483" "00008874" "50" "1033" "0" "1033" "0" "c.1033T>C" "r.(?)" "p.(Phe345Leu)" ""
"0000253377" "00008874" "10" "6824" "0" "6824" "0" "c.6824T>C" "r.(?)" "p.(Leu2275Pro)" ""
"0000253682" "00008874" "10" "3454" "0" "3454" "0" "c.3454T>C" "r.(?)" "p.(Ser1152Pro)" ""
"0000254735" "00008874" "30" "146" "0" "146" "0" "c.146T>C" "r.(?)" "p.(Met49Thr)" ""
"0000254995" "00008874" "30" "921" "0" "921" "0" "c.921T>A" "r.(?)" "p.(Ser307Arg)" ""
"0000277427" "00008874" "10" "1140" "0" "1140" "0" "c.1140G>A" "r.(?)" "p.(Leu380=)" ""
"0000277428" "00008874" "50" "1430" "0" "1430" "0" "c.1430G>A" "r.(?)" "p.(Arg477Gln)" ""
"0000277429" "00008874" "10" "2022" "0" "2022" "0" "c.2022C>T" "r.(?)" "p.(Asp674=)" ""
"0000277430" "00008874" "10" "2988" "0" "2988" "0" "c.2988G>A" "r.(?)" "p.(Glu996=)" ""
"0000277431" "00008874" "10" "3117" "0" "3117" "0" "c.3117A>T" "r.(?)" "p.(Lys1039Asn)" ""
"0000277432" "00008874" "50" "3317" "0" "3317" "0" "c.3317G>A" "r.(?)" "p.(Ser1106Asn)" ""
"0000277433" "00008874" "10" "3411" "0" "3411" "0" "c.3411G>A" "r.(?)" "p.(Ala1137=)" ""
"0000277434" "00008874" "10" "3441" "0" "3441" "0" "c.3441C>T" "r.(?)" "p.(Ser1147=)" ""
"0000277435" "00008874" "30" "3442" "0" "3442" "0" "c.3442G>A" "r.(?)" "p.(Asp1148Asn)" ""
"0000277436" "00008874" "30" "349" "0" "349" "0" "c.349G>T" "r.(?)" "p.(Asp117Tyr)" ""
"0000277437" "00008874" "50" "3656" "0" "3657" "0" "c.3656_3657del" "r.(?)" "p.(Pro1219ArgfsTer18)" ""
"0000277438" "00008874" "10" "3920" "0" "3920" "0" "c.3920G>A" "r.(?)" "p.(Arg1307Gln)" ""
"0000277439" "00008874" "10" "4359" "0" "4359" "0" "c.4359G>C" "r.(?)" "p.(Gly1453=)" ""
"0000277440" "00008874" "10" "51" "0" "51" "0" "c.51C>T" "r.(?)" "p.(Gly17=)" ""
"0000277443" "00008874" "10" "5868" "0" "5868" "0" "c.5868C>T" "r.(?)" "p.(Ser1956=)" ""
"0000277444" "00008874" "10" "5975" "0" "5975" "0" "c.5975G>A" "r.(?)" "p.(Gly1992Asp)" ""
"0000277445" "00008874" "30" "6078" "0" "6078" "0" "c.6078A>T" "r.(?)" "p.(Arg2026Ser)" ""
"0000277446" "00008874" "10" "6327" "0" "6327" "0" "c.6327C>G" "r.(?)" "p.(Thr2109=)" ""
"0000277447" "00008874" "10" "6336" "0" "6336" "0" "c.6336G>A" "r.(?)" "p.(Ala2112=)" ""
"0000277448" "00008874" "10" "645" "0" "645" "0" "c.645G>A" "r.(?)" "p.(Pro215=)" ""
"0000277449" "00008874" "10" "795" "-4" "795" "-4" "c.795-4G>A" "r.spl?" "p.?" ""
"0000277450" "00008874" "10" "814" "0" "814" "0" "c.814G>A" "r.(?)" "p.(Val272Ile)" ""
"0000277451" "00008874" "30" "959" "0" "959" "0" "c.959G>A" "r.(?)" "p.(Arg320Gln)" ""
"0000277452" "00008874" "30" "983" "0" "983" "0" "c.983C>T" "r.(?)" "p.(Pro328Leu)" ""
"0000288632" "00008874" "50" "1030" "0" "1030" "0" "c.1030G>A" "r.(?)" "p.(Gly344Arg)" ""
"0000288633" "00008874" "30" "1133" "0" "1133" "0" "c.1133C>T" "r.(?)" "p.(Ala378Val)" ""
"0000288634" "00008874" "50" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Ala383Thr)" ""
"0000288635" "00008874" "50" "1236" "0" "1236" "0" "c.1236G>C" "r.(?)" "p.(Trp412Cys)" ""
"0000288636" "00008874" "90" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Trp450Ter)" ""
"0000288637" "00008874" "50" "1528" "0" "1528" "0" "c.1528G>A" "r.(?)" "p.(Val510Met)" ""
"0000288638" "00008874" "30" "1839" "0" "1839" "0" "c.1839C>T" "r.(?)" "p.(Phe613=)" ""
"0000288639" "00008874" "10" "2022" "0" "2022" "0" "c.2022C>T" "r.(?)" "p.(Asp674=)" ""
"0000288640" "00008874" "50" "2413" "0" "2413" "0" "c.2413G>C" "r.(?)" "p.(Glu805Gln)" ""
"0000288641" "00008874" "30" "257" "0" "257" "0" "c.257G>A" "r.(?)" "p.(Gly86Glu)" ""
"0000288642" "00008874" "10" "2604" "0" "2604" "0" "c.2604G>C" "r.(?)" "p.(Glu868Asp)" ""
"0000288643" "00008874" "30" "3441" "0" "3441" "0" "c.3441C>T" "r.(?)" "p.(Ser1147=)" ""
"0000288644" "00008874" "10" "3680" "0" "3680" "0" "c.3680A>G" "r.(?)" "p.(Lys1227Arg)" ""
"0000288645" "00008874" "50" "4336" "0" "4336" "0" "c.4336C>T" "r.(?)" "p.(Pro1446Ser)" ""
"0000288646" "00008874" "30" "4449" "0" "4449" "0" "c.4449G>A" "r.(?)" "p.(Leu1483=)" ""
"0000288647" "00008874" "50" "4763" "0" "4763" "0" "c.4763C>T" "r.(?)" "p.(Ala1588Val)" ""
"0000288648" "00008874" "50" "4841" "0" "4843" "0" "c.4841_4843del" "r.(?)" "p.(Gly1614del)" ""
"0000288649" "00008874" "30" "5385" "0" "5385" "0" "c.5385C>T" "r.(?)" "p.(Gly1795=)" ""
"0000288650" "00008874" "30" "5606" "0" "5606" "0" "c.5606A>C" "r.(?)" "p.(Gln1869Pro)" ""
"0000288652" "00008874" "30" "5975" "0" "5975" "0" "c.5975G>A" "r.(?)" "p.(Gly1992Asp)" ""
"0000288653" "00008874" "30" "6271" "0" "6271" "0" "c.6271C>A" "r.(?)" "p.(Pro2091Thr)" ""
"0000288654" "00008874" "30" "627" "0" "627" "0" "c.627C>T" "r.(?)" "p.(Leu209=)" ""
"0000288655" "00008874" "30" "6336" "0" "6336" "0" "c.6336G>A" "r.(?)" "p.(Ala2112=)" ""
"0000288656" "00008874" "30" "6530" "0" "6530" "0" "c.6530G>C" "r.(?)" "p.(Arg2177Thr)" ""
"0000288657" "00008874" "30" "657" "0" "657" "0" "c.657A>T" "r.(?)" "p.(Gly219=)" ""
"0000288658" "00008874" "30" "6710" "0" "6710" "0" "c.6710C>T" "r.(?)" "p.(Thr2237Ile)" ""
"0000288659" "00008874" "30" "795" "-4" "795" "-4" "c.795-4G>A" "r.spl?" "p.?" ""
"0000288660" "00008874" "50" "910" "0" "910" "0" "c.910C>T" "r.(?)" "p.(Pro304Ser)" ""
"0000348262" "00008874" "10" "5930" "0" "5930" "0" "c.5930C>A" "r.(?)" "p.(Pro1977His)" ""
"0000348829" "00008874" "50" "6445" "0" "6445" "0" "c.6445T>C" "r.(?)" "p.(Ser2149Pro)" ""
"0000561135" "00008874" "10" "7014" "0" "7014" "0" "c.7014G>A" "r.(?)" "p.(Ser2338=)" ""
"0000561136" "00008874" "50" "6998" "0" "6998" "0" "c.6998C>G" "r.(?)" "p.(Ala2333Gly)" ""
"0000561137" "00008874" "50" "6683" "0" "6683" "0" "c.6683A>C" "r.(?)" "p.(Asp2228Ala)" ""
"0000561138" "00008874" "50" "6433" "0" "6433" "0" "c.6433C>T" "r.(?)" "p.(Gln2145Ter)" ""
"0000561139" "00008874" "30" "5983" "0" "5983" "0" "c.5983G>A" "r.(?)" "p.(Ala1995Thr)" ""
"0000561140" "00008874" "50" "5869" "0" "5869" "0" "c.5869G>A" "r.(?)" "p.(Val1957Ile)" ""
"0000561142" "00008874" "30" "5563" "0" "5563" "0" "c.5563C>G" "r.(?)" "p.(Leu1855Val)" ""
"0000561143" "00008874" "50" "5448" "0" "5448" "0" "c.5448G>C" "r.(?)" "p.(Lys1816Asn)" ""
"0000561144" "00008874" "30" "5421" "0" "5421" "0" "c.5421G>A" "r.(?)" "p.(Gln1807=)" ""
"0000561146" "00008874" "10" "5019" "0" "5019" "0" "c.5019C>G" "r.(?)" "p.(Thr1673=)" ""
"0000561147" "00008874" "30" "4940" "0" "4940" "0" "c.4940C>T" "r.(?)" "p.(Ala1647Val)" ""
"0000561148" "00008874" "50" "4488" "0" "4488" "0" "c.4488del" "r.(?)" "p.(Thr1497GlnfsTer26)" ""
"0000561149" "00008874" "10" "4306" "0" "4306" "0" "c.4306C>T" "r.(?)" "p.(Arg1436Trp)" ""
"0000561151" "00008874" "10" "4062" "0" "4062" "0" "c.4062G>A" "r.(?)" "p.(Glu1354=)" ""
"0000561152" "00008874" "30" "3979" "0" "3979" "0" "c.3979G>A" "r.(?)" "p.(Asp1327Asn)" ""
"0000561153" "00008874" "30" "3970" "0" "3970" "0" "c.3970G>A" "r.(?)" "p.(Glu1324Lys)" ""
"0000561154" "00008874" "50" "3970" "0" "3970" "0" "c.3970G>A" "r.(?)" "p.(Glu1324Lys)" ""
"0000561157" "00008874" "10" "3847" "0" "3847" "0" "c.3847C>T" "r.(?)" "p.(Pro1283Ser)" ""
"0000561158" "00008874" "50" "3847" "0" "3847" "0" "c.3847C>T" "r.(?)" "p.(Pro1283Ser)" ""
"0000561160" "00008874" "50" "3673" "0" "3673" "0" "c.3673C>A" "r.(?)" "p.(Leu1225Met)" ""
"0000561161" "00008874" "50" "3531" "0" "3533" "0" "c.3531_3533del" "r.(?)" "p.(Glu1177del)" ""
"0000561162" "00008874" "50" "3512" "0" "3515" "0" "c.3512_3515del" "r.(?)" "p.(Glu1171AlafsTer12)" ""
"0000561164" "00008874" "30" "3426" "0" "3426" "0" "c.3426C>T" "r.(?)" "p.(Ala1142=)" ""
"0000561165" "00008874" "50" "3046" "0" "3046" "0" "c.3046G>C" "r.(?)" "p.(Glu1016Gln)" ""
"0000561166" "00008874" "30" "2924" "0" "2924" "0" "c.2924C>A" "r.(?)" "p.(Ala975Asp)" ""
"0000561168" "00008874" "30" "2591" "0" "2591" "0" "c.2591G>A" "r.(?)" "p.(Arg864Gln)" ""
"0000561169" "00008874" "10" "2457" "0" "2457" "0" "c.2457C>T" "r.(?)" "p.(Ser819=)" ""
"0000561170" "00008874" "30" "2413" "0" "2413" "0" "c.2413G>C" "r.(?)" "p.(Glu805Gln)" ""
"0000561174" "00008874" "50" "1916" "0" "1916" "0" "c.1916G>A" "r.(?)" "p.(Arg639Gln)" ""
"0000561175" "00008874" "10" "1839" "0" "1839" "0" "c.1839C>T" "r.(?)" "p.(Phe613=)" ""
"0000561176" "00008874" "30" "1533" "0" "1533" "0" "c.1533C>T" "r.(?)" "p.(Gly511=)" ""
"0000561177" "00008874" "50" "1472" "0" "1472" "0" "c.1472T>A" "r.(?)" "p.(Leu491Gln)" ""
"0000561178" "00008874" "30" "1133" "0" "1133" "0" "c.1133C>T" "r.(?)" "p.(Ala378Val)" ""
"0000561179" "00008874" "70" "991" "1" "991" "1" "c.991+1G>A" "r.spl?" "p.?" ""
"0000561180" "00008874" "50" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Gly325Arg)" ""
"0000561182" "00008874" "50" "761" "0" "761" "0" "c.761A>G" "r.(?)" "p.(Tyr254Cys)" ""
"0000561183" "00008874" "30" "671" "0" "671" "0" "c.671C>T" "r.(?)" "p.(Thr224Met)" ""
"0000561184" "00008874" "10" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Gly210Ser)" ""
"0000561185" "00008874" "50" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Gly210Ser)" ""
"0000561186" "00008874" "90" "585" "0" "585" "0" "c.585dup" "r.(?)" "p.(Ala196CysfsTer10)" ""
"0000561187" "00008874" "30" "508" "0" "508" "0" "c.508G>C" "r.(?)" "p.(Gly170Arg)" ""
"0000616476" "00008874" "30" "5019" "0" "5019" "0" "c.5019C>G" "r.(?)" "p.(Thr1673=)" ""
"0000616477" "00008874" "30" "4306" "0" "4306" "0" "c.4306C>T" "r.(?)" "p.(Arg1436Trp)" ""
"0000616478" "00008874" "30" "4140" "0" "4140" "0" "c.4140G>A" "r.(?)" "p.(Pro1380=)" ""
"0000616479" "00008874" "30" "1455" "0" "1455" "0" "c.1455G>A" "r.(?)" "p.(Leu485=)" ""
"0000616480" "00008874" "30" "1406" "4" "1406" "4" "c.1406+4C>T" "r.spl?" "p.?" ""
"0000623651" "00008874" "10" "5904" "0" "5904" "0" "c.5904C>T" "r.(?)" "p.(Ser1968=)" ""
"0000623652" "00008874" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000623653" "00008874" "50" "3401" "0" "3401" "0" "c.3401G>A" "r.(?)" "p.(Arg1134Gln)" ""
"0000623654" "00008874" "30" "2306" "0" "2306" "0" "c.2306A>G" "r.(?)" "p.(His769Arg)" ""
"0000623655" "00008874" "30" "989" "0" "989" "0" "c.989G>T" "r.(?)" "p.(Gly330Val)" ""
"0000623656" "00008874" "50" "959" "0" "959" "0" "c.959G>A" "r.(?)" "p.(Arg320Gln)" ""
"0000623657" "00008874" "30" "657" "0" "657" "0" "c.657A>T" "r.(?)" "p.(Gly219=)" ""
"0000649545" "00008874" "50" "6824" "0" "6824" "0" "c.6824T>C" "r.(?)" "p.(Leu2275Pro)" ""
"0000649547" "00008874" "30" "3454" "0" "3454" "0" "c.3454T>C" "r.(?)" "p.(Ser1152Pro)" ""
"0000649548" "00008874" "50" "2604" "0" "2604" "0" "c.2604G>C" "r.(?)" "p.(Glu868Asp)" ""
"0000649549" "00008874" "70" "349" "0" "349" "0" "c.349G>A" "r.(?)" "p.(Asp117Asn)" ""
"0000658091" "00008874" "30" "6475" "0" "6475" "0" "c.6475A>G" "r.(?)" "p.(Lys2159Glu)" ""
"0000680833" "00008874" "30" "2520" "0" "2520" "0" "c.2520G>A" "r.(?)" "p.(Ser840=)" ""
"0000680834" "00008874" "30" "1837" "0" "1837" "0" "c.1837T>C" "r.(?)" "p.(Phe613Leu)" ""
"0000680835" "00008874" "50" "1296" "3" "1296" "3" "c.1296+3G>C" "r.spl?" "p.?" ""
"0000686128" "00008874" "50" "1030" "0" "1030" "0" "c.1030G>A" "r.(?)" "p.(Gly344Arg)" ""
"0000692322" "00008874" "70" "659" "0" "659" "0" "c.659A>G" "r.(?)" "p.(Tyr220Cys)" ""
"0000713319" "00008874" "90" "984" "0" "984" "0" "c.984del" "r.(?)" "p.(Ser329Leufs*4)" ""
"0000714564" "00008874" "90" "6351" "0" "6351" "0" "c.6351G>A" "r.(?)" "p.(Trp2117*)" ""
"0000726315" "00008874" "50" "6952" "0" "6952" "0" "c.6952C>T" "r.(?)" "p.(Leu2318Phe)" ""
"0000726316" "00008874" "50" "2734" "0" "2734" "0" "c.2734G>A" "r.(?)" "p.(Asp912Asn)" ""
"0000726317" "00008874" "50" "1220" "0" "1220" "0" "c.1220G>A" "r.(?)" "p.(Arg407Gln)" ""
"0000731587" "00008874" "70" "1818" "0" "1818" "0" "c.1818G>A" "r.(?)" "p.(Trp606Ter)" ""
"0000732482" "00008874" "50" "4597" "0" "4597" "0" "c.4597G>A" "r.(?)" "p.(Glu1533Lys)" ""
"0000765832" "00008874" "70" "864" "0" "864" "0" "c.864G>A" "r.(?)" "p.(Trp288Ter)" ""
"0000765917" "00008874" "70" "349" "0" "349" "0" "c.349G>A" "r.(?)" "p.(Asp117Asn)" ""
"0000783970" "00008874" "50" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Gln237Ter)" ""
"0000788235" "00008874" "70" "870" "0" "871" "0" "c.870_871dup" "r.(?)" "p.(Asn291IlefsTer43)" ""
"0000788236" "00008874" "70" "1368" "0" "1368" "0" "c.1368del" "r.(?)" "p.(Phe456LeufsTer30)" ""
"0000788374" "00008874" "50" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Arg404Cys)" "4"
"0000788499" "00008874" "50" "3509" "0" "3509" "0" "c.3509G>A" "r.(?)" "p.(Arg1170Gln)" "11"
"0000790720" "00008874" "70" "1811" "0" "1811" "0" "c.1811C>T" "r.(?)" "p.(Pro604Leu)" ""
"0000796312" "00008874" "90" "659" "0" "659" "0" "c.659A>G" "r.(?)" "p.(Tyr220Cys)" "1"
"0000798010" "00008874" "50" "5975" "0" "5975" "0" "c.5975G>A" "r.(?)" "p.(Gly1992Asp)" ""
"0000798011" "00008874" "50" "4841" "0" "4843" "0" "c.4841_4843del" "r.(?)" "p.(Gly614del)" ""
"0000798079" "00008874" "70" "3361" "0" "3361" "0" "c.3361G>T" "r.(?)" "p.(Glu1121*)" ""
"0000807923" "00008874" "30" "7029" "0" "7029" "0" "c.7029C>T" "r.(?)" "p.(Asp2343=)" ""
"0000807924" "00008874" "50" "7001" "0" "7002" "0" "c.7001_7002del" "r.(?)" "p.(Glu2334Valfs*8)" ""
"0000807925" "00008874" "50" "3565" "0" "3565" "0" "c.3565G>T" "r.(?)" "p.(Glu1189*)" ""
"0000807926" "00008874" "30" "1824" "0" "1824" "0" "c.1824C>T" "r.(?)" "p.(Leu608=)" ""
"0000807927" "00008874" "30" "414" "0" "414" "0" "c.414C>T" "r.(?)" "p.(Ala138=)" ""
"0000812430" "00008874" "70" "1368" "0" "1368" "0" "c.1368del" "r.(?)" "p.(Phe456Leufs*30)" "6"
"0000819668" "00008874" "70" "984" "0" "984" "0" "c.984del" "r.(?)" "p.(Ser329Leufs*4)" ""
"0000821258" "00008874" "90" "984" "0" "984" "0" "c.984del" "r.(?)" "p.(Ser329Leufs*4)" ""
"0000823567" "00008874" "90" "903" "343" "903" "343" "c.903+343G>A" "r.spl" "p.(?)" "c.903+343G>A"
"0000854849" "00008874" "50" "5983" "0" "5983" "0" "c.5983G>A" "r.(?)" "p.(Ala1995Thr)" ""
"0000854850" "00008874" "50" "5083" "0" "5083" "0" "c.5083G>A" "r.(?)" "p.(Glu1695Lys)" ""
"0000854851" "00008874" "30" "3382" "0" "3382" "0" "c.3382C>A" "r.(?)" "p.(Arg1128=)" ""
"0000854852" "00008874" "50" "2021" "0" "2021" "0" "c.2021A>G" "r.(?)" "p.(Asp674Gly)" ""
"0000854853" "00008874" "30" "1693" "0" "1693" "0" "c.1693C>A" "r.(?)" "p.(Arg565=)" ""
"0000865174" "00008874" "30" "5089" "0" "5089" "0" "c.5089T>G" "r.(?)" "p.(Leu1697Val)" ""
"0000865175" "00008874" "50" "3934" "0" "3935" "0" "c.3934_3935del" "r.(?)" "p.(Arg1312Alafs*36)" ""
"0000865176" "00008874" "90" "3934" "0" "3935" "0" "c.3934_3935del" "r.(?)" "p.(Arg1312Alafs*36)" ""
"0000865177" "00008874" "30" "3819" "0" "3819" "0" "c.3819C>G" "r.(?)" "p.(Ala1273=)" ""
"0000865178" "00008874" "90" "3382" "0" "3382" "0" "c.3382C>T" "r.(?)" "p.(Arg1128*)" ""
"0000865179" "00008874" "50" "1939" "0" "1939" "0" "c.1939T>A" "r.(?)" "p.(Cys647Ser)" ""
"0000865180" "00008874" "50" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Gly325Arg)" ""
"0000872674" "00008874" "70" "187" "0" "187" "0" "c.187del" "r.(?)" "p.(Leu63Serfs*12)" ""
"0000872675" "00008874" "70" "984" "0" "984" "0" "c.984del" "r.(?)" "p.(Ser329Leufs*4)" ""
"0000872676" "00008874" "70" "659" "0" "659" "0" "c.659A>G" "r.(?)" "p.(Tyr220Cys)" ""
"0000872677" "00008874" "70" "984" "0" "984" "0" "c.984del" "r.(?)" "p.(Ser329Leufs*4)" ""
"0000893500" "00008874" "50" "5003" "0" "5003" "0" "c.5003C>G" "r.(?)" "p.(Thr1668Arg)" ""
"0000893501" "00008874" "30" "4875" "0" "4875" "0" "c.4875A>G" "r.(?)" "p.(Gly1625=)" ""
"0000893502" "00008874" "30" "2871" "0" "2871" "0" "c.2871C>T" "r.(?)" "p.(Thr957=)" ""
"0000893503" "00008874" "30" "1693" "0" "1693" "0" "c.1693C>A" "r.(?)" "p.(Arg565=)" ""
"0000893504" "00008874" "50" "1321" "0" "1321" "0" "c.1321A>C" "r.(?)" "p.(Ser441Arg)" ""
"0000893505" "00008874" "50" "1236" "0" "1236" "0" "c.1236G>C" "r.(?)" "p.(Trp412Cys)" ""
"0000893506" "00008874" "90" "984" "0" "984" "0" "c.984del" "r.(?)" "p.(Ser329Leufs*4)" ""
"0000893507" "00008874" "30" "627" "0" "627" "0" "c.627C>T" "r.(?)" "p.(Leu209=)" ""
"0000893508" "00008874" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Pro48Ala)" ""
"0000905953" "00008874" "50" "2706" "0" "2707" "0" "c.2706_2707dup" "r.(?)" "p.(Pro903Hisfs*67)" ""
"0000915930" "00008874" "50" "2257" "0" "2257" "0" "c.2257C>T" "r.(?)" "p.(Arg753Trp)" "11"
"0000915931" "00008874" "50" "4381" "0" "4381" "0" "c.4381G>C" "r.(?)" "p.(Glu1461Gln)" "11"
"0000930740" "00008874" "30" "5988" "0" "5988" "0" "c.5988C>T" "r.(?)" "p.(=)" ""
"0000958195" "00008874" "90" "1818" "0" "1818" "0" "c.1818G>A" "r.(?)" "p.(Trp606Ter)" ""
"0000958542" "00008874" "90" "984" "0" "984" "0" "c.984del" "r.(?)" "p.(Ser329LeufsTer4)" ""
"0000959061" "00008874" "90" "984" "0" "984" "0" "c.984del" "r.(?)" "p.(Ser329LeufsTer4)" ""
"0000959079" "00008874" "90" "984" "0" "984" "0" "c.984del" "r.(?)" "p.(Ser329LeufsTer4)" ""
"0000968834" "00008874" "30" "3678" "0" "3678" "0" "c.3678C>T" "r.(?)" "p.(=)" ""
"0000968835" "00008874" "30" "1891" "-18" "1891" "-18" "c.1891-18C>G" "r.(=)" "p.(=)" ""
"0001003146" "00008874" "30" "5563" "0" "5563" "0" "c.5563C>G" "r.(?)" "p.(Leu1855Val)" ""
"0001003147" "00008874" "50" "3565" "0" "3565" "0" "c.3565G>T" "r.(?)" "p.(Glu1189*)" ""
"0001003148" "00008874" "50" "3460" "0" "3460" "0" "c.3460C>T" "r.(?)" "p.(Gln1154*)" ""
"0001003149" "00008874" "90" "984" "0" "984" "0" "c.984del" "r.(?)" "p.(Ser329Leufs*4)" ""
"0001041790" "00008874" "50" "1839" "0" "1839" "0" "c.1839C>T" "r.(?)" "p.(Phe613=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 41
"{{screeningid}}" "{{variantid}}"
"0000087960" "0000140630"
"0000087961" "0000140629"
"0000087962" "0000140628"
"0000087963" "0000140627"
"0000088201" "0000140631"
"0000292856" "0000649545"
"0000292858" "0000649547"
"0000292859" "0000649548"
"0000292860" "0000649549"
"0000310981" "0000686128"
"0000329196" "0000713319"
"0000330075" "0000714564"
"0000333780" "0000731587"
"0000334584" "0000732482"
"0000364890" "0000765832"
"0000364975" "0000765917"
"0000373731" "0000783970"
"0000376600" "0000788235"
"0000376601" "0000788236"
"0000376608" "0000788374"
"0000376629" "0000788499"
"0000378053" "0000790720"
"0000382481" "0000796312"
"0000383763" "0000798010"
"0000383763" "0000798011"
"0000383815" "0000798079"
"0000385392" "0000812430"
"0000390323" "0000819668"
"0000391509" "0000821258"
"0000393000" "0000823567"
"0000414953" "0000872674"
"0000414953" "0000872675"
"0000414954" "0000872676"
"0000414954" "0000872677"
"0000428256" "0000905953"
"0000431002" "0000915930"
"0000431002" "0000915931"
"0000448709" "0000958195"
"0000448709" "0000958542"
"0000448904" "0000959079"
"0000449294" "0000959061"