### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PDE6H)
# 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}}"
"PDE6H" "phosphodiesterase 6H, cGMP-specific, cone, gamma" "12" "p13" "unknown" "NG_016859.1" "UD_132118237717" "" "https://www.LOVD.nl/PDE6H" "" "1" "8790" "5149" "601190" "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/PDE6H_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-16 00:00:00" "00006" "2024-03-13 09:52:02" "00006" "2024-09-30 16:24:09"
## 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}}"
"00015888" "PDE6H" "phosphodiesterase 6H, cGMP-specific, cone, gamma" "001" "NM_006205.2" "" "NP_006196.1" "" "" "" "-106" "641" "252" "15125956" "15134799" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"02893" "RCD3A;ACHM6" "dystrophy, retinal cone, type 3A (ACHM6)" "AD;AR" "610024" "" "autosomal recessive/dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2024-03-13 09:51:36"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"04230" "ACHM" "achromatopsia (ACHM)" "" "" "" "" "" "00006" "2015-03-22 20:43:12" "" ""
"05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"PDE6H" "02893"
"PDE6H" "04230"
## Individuals ## Do not remove or alter this header ##
## Count = 19
"{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}"
"00308620" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 homozygous patient" "" "" "Norway" "" "0" "" "" "" ""
"00377187" "" "" "" "2" "" "00000" "Tracewska 2021, MolVis in press" "sister" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "259"
"00377188" "" "" "00377187" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "260"
"00377273" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "476"
"00386201" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-320"
"00391807" "" "" "" "1" "" "00006" "{PMID:Langlo 2014:274798146}" "" "M" "" "United States" "" "0" "" "" "" "BPE-022"
"00402879" "" "" "" "1" "" "02404" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "4-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Iran" "" "0" "" "" "" "Fam1PatIV4"
"00416015" "" "" "" "1" "" "00000" "{PMID:Kohl 2012:22901948}" "" "M" "" "" "" "0" "" "" "Belgian" "NL-II:1"
"00416016" "" "" "" "1" "" "00000" "{PMID:Kohl 2012:22901948}" "" "M" "" "" "" "0" "" "" "Belgian" "BE-II:1"
"00416017" "" "" "" "1" "" "00000" "{PMID:Kohl 2012:22901948}" "" "F" "" "" "" "0" "" "" "Belgian" "BE-II:2"
"00416018" "" "" "" "1" "" "00000" "{PMID:Pedurupillay 2016:27472364}" "parents were first-degree cousins" "" "" "" "" "0" "" "" "Pakistani" "Patient II:1"
"00416019" "" "" "" "1" "" "00000" "{PMID:Pedurupillay 2016:27472364}" "parents were first-degree cousins" "" "" "" "" "0" "" "" "Pakistani" "Patient II:2"
"00426909" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 13, individual 15" "M" "" "" "" "0" "" "" "" "13_15"
"00446726" "" "" "" "1" "" "00006" "{PMID:Szakszon 2024:37580113}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat21"
"00455007" "" "" "" "2" "" "04752" "{PMID:Andersen 2023:36980963}" "family, 2 affected" "" "yes" "Denmark" "" "0" "" "" "" "Fam423Pat86"
"00455008" "" "" "00455007" "1" "" "04752" "{PMID:Andersen 2023:36980963}" "sib" "" "yes" "Denmark" "" "0" "" "" "" "Fam423Pat87"
"00455009" "" "" "" "3" "" "04752" "{PMID:Andersen 2023:36980963}" "family, 3 affected" "" "no" "Denmark" "" "0" "" "" "" "Fam409Pat88"
"00455010" "" "" "00455009" "1" "" "04752" "{PMID:Andersen 2023:36980963}" "sib" "" "no" "Denmark" "" "0" "" "" "" "Fam409Pat89"
"00455011" "" "" "00455009" "1" "" "04752" "{PMID:Andersen 2023:36980963}" "sib" "" "no" "Denmark" "" "0" "" "" "" "Fam409Pat90"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 19
"{{individualid}}" "{{diseaseid}}"
"00308620" "04214"
"00377187" "04214"
"00377188" "04214"
"00377273" "04214"
"00386201" "04214"
"00391807" "04214"
"00402879" "05611"
"00416015" "04214"
"00416016" "04214"
"00416017" "04214"
"00416018" "04214"
"00416019" "04214"
"00426909" "04214"
"00446726" "05611"
"00455007" "04230"
"00455008" "04230"
"00455009" "04230"
"00455010" "04230"
"00455011" "04230"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 02893, 04214, 04230, 05611
## Count = 19
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}"
"0000234048" "04214" "00308620" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease"
"0000272345" "04214" "00377187" "00000" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "dystrophy, retinal cone, type 3A (RCD-3A, achromatopsia type 6 (ACHM-6))" "retinal disease"
"0000272346" "04214" "00377188" "00000" "Familial, autosomal recessive" "8y" "see paper" "2y" "3y" "" "" "" "" "" "dystrophy, retinal cone, type 3A (RCD-3A, achromatopsia type 6 (ACHM-6))" "retinal disease"
"0000272431" "04214" "00377273" "00000" "Familial, autosomal recessive" "5y" "see paper" "7m" "2y" "" "" "" "" "" "dystrophy, retinal cone, type 3A (RCD-3A, achromatopsia type 6 (ACHM-6))" "retinal disease"
"0000280004" "04214" "00386201" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy"
"0000285120" "04214" "00391807" "00006" "Familial, autosomal recessive" "31y" "see paper; ..." "" "" "" "" "" "" "" "" "achromatopsia"
"0000295640" "05611" "00402879" "02404" "Complex" "" "" "" "" "" "" "" "" "" "" ""
"0000307781" "04214" "00416015" "00000" "Familial, autosomal recessive" "45y" "best-corrected Snellen visual acuity:20/125, 20/125; refraction:-7.5, -6.5; color vision: severely disturbed red/green axes, normal blue/ yellow axes; photophobia: since birth; nystagmus: since birth; rod electroretinogram: scotopic responses normal; cone electroretinogram: severely reduced cone electroretinogram and absent 30 Hz flicker response" "" "" "" "" "" "" "" "incomplete achromatopsia" ""
"0000307782" "04214" "00416016" "00000" "Familial, autosomal recessive" "22y" "best-corrected Snellen visual acuity:20/63, 20/63; refraction:-13.75, -14.25; color vision: D-15: sat: no confusions; desat: multiple confusions, disturbed red/green axes, normal blue axes; photophobia: moderate; nystagmus: no; rod electroretinogram: scotopic responses normal; cone electroretinogram: severely reduced cone electroretinogram and absent 30 Hz flicker response" "" "" "" "" "" "" "" "incomplete achromatopsia" ""
"0000307783" "04214" "00416017" "00000" "Familial, autosomal recessive" "20y" "best-corrected Snellen visual acuity:20/200, 20/100; refraction:-8.25, -8.25; color vision: D-15: sat: no confusions; desat: multiple confusions, disturbed red/green axes, normal blue axes; photophobia: moderate; nystagmus: yes; rod electroretinogram: scotopic responses normal; cone electroretinogram: severely reduced cone electroretinogram and absent 30 Hz flicker response" "" "" "" "" "" "" "" "incomplete achromatopsia" ""
"0000307784" "04214" "00416018" "00000" "Familial, autosomal recessive" "15y" "best corrected visual acuity: 6/15, 6/24; refraction: 10.5, -2.5 x 180; -10.5, -2.5 x 160; nystagmus: present; photophobia: absent; goldmann perimetry: normal; fundoscopy: changes in optic disc and peripapillary area; retina: mild myopic changes; macular autofluorescence: mottled; color vision: red-green deficiency: severe, blue-yellow: normal; electroretinogram: rods: normal; cones single flash: weak; cones 30 Hz flicker: weakoptical coherence tomography, inner/outer segment junction: normal, fovea: normal" "" "" "" "" "" "" "" "incomplete achromatopsia; alopecia" ""
"0000307785" "04214" "00416019" "00000" "Familial, autosomal recessive" "10y" "best corrected visual acuity: 6/20, 6/15; refraction: -9.0, -2.0 x 30, -9.5, -2.5 x 160; nystagmus: present transiently; photophobia: absent; goldmann perimetry: not available; fundoscopy: changes in optic disc and peripapillary area, discreet, small disruptions of retinal pigment epithelium in central fovea; retina: mild myopic changes; macular autofluorescence: mottled; color vision: red-green deficiency: moderate, blue-yellow: normal; electroretinogram: rods: normal; cones single flash: weak; cones 30 Hz flicker: weakoptical coherence tomography, inner/outer segment junction: normal, fovea: norma" "" "" "" "" "" "" "" "incomplete achromatopsia; alopecia" ""
"0000318047" "04214" "00426909" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "achromatopsia" "cone dystrophy"
"0000335928" "05611" "00446726" "00006" "Isolated (sporadic)" "9y" "see paper; ..., birth 38w; respiratory distress, apnea-bradycardia; no fetal hydrops/edema; no feeding difficulty, no failure to thrive; no spasticity extremities; no recurrent infections; no renal anomalies; secundum type atrial septal defect; no sketelal anomalies; sandal gap, pes planus, 5th finger clinodactyly; corpus callosum hypoplasia; colpocephaly, enlarged occipital horns and lateralization of the frontal horns of the lateral ventricles; no seizures, EEG normal; delayed motor development, >2y-walk, stereotypic stiff upholded arms and outward rotation of feet during running, fine motor; intellectual disability; speech delay; flat affect, occasional temper outbursts, aggression, withdrawn nature, shyness; amblyopia, strabismus convergent strabisms astigmatism, cone dystrophy; no hearing problems; no altered sensation pain/heat/smell/touch; narrow palpebral fissures; long face, low anterior hairline; pointed chin; nose narrow nasal bridge, broad nasal base; thin upper lip, everted lower lip; pointed teeth; normal ears; no hair/skin/nail anomalies; no haematological problems; inguinal hernia" "" "" "" "" "" "" "" "GDACCF" "neurodevelopmental delay"
"0000343604" "04230" "00455007" "04752" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "RCD3A" "achromatopsia"
"0000343605" "04230" "00455008" "04752" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "RCD3A" "achromatopsia"
"0000343606" "04230" "00455009" "04752" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "RCD3A" "achromatopsia"
"0000343607" "04230" "00455010" "04752" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "RCD3A" "achromatopsia"
"0000343608" "04230" "00455011" "04752" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "RCD3A" "achromatopsia"
## Screenings ## Do not remove or alter this header ##
## Count = 19
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000309765" "00308620" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000378392" "00377187" "1" "00000" "03840" "2021-07-16 14:18:12" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000378393" "00377188" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000378478" "00377273" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000387430" "00386201" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000393050" "00391807" "1" "00006" "00006" "2021-11-19 11:19:46" "" "" "SEQ" "DNA" "" ""
"0000404121" "00402879" "1" "02404" "02404" "2022-02-13 16:52:37" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing"
"0000417295" "00416015" "1" "00000" "03840" "2022-08-21 18:19:53" "" "" "SEQ" "DNA" "blood" "whole-exome sequencing"
"0000417296" "00416016" "1" "00000" "03840" "2022-08-21 18:19:53" "" "" "SEQ" "DNA" "blood" "whole-exome sequencing"
"0000417297" "00416017" "1" "00000" "03840" "2022-08-21 18:19:53" "" "" "SEQ" "DNA" "blood" "whole-exome sequencing"
"0000417298" "00416018" "1" "00000" "03840" "2022-08-22 09:29:12" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing"
"0000417299" "00416019" "1" "00000" "03840" "2022-08-22 09:29:12" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing"
"0000428229" "00426909" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing"
"0000448301" "00446726" "1" "00006" "00006" "2024-01-22 13:14:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000456620" "00455007" "1" "04752" "00006" "2024-09-30 16:23:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000456621" "00455008" "1" "04752" "00006" "2024-09-30 16:23:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000456622" "00455009" "1" "04752" "00006" "2024-09-30 16:23:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000456623" "00455010" "1" "04752" "00006" "2024-09-30 16:23:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000456624" "00455011" "1" "04752" "00006" "2024-09-30 16:23:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 12
"{{screeningid}}" "{{geneid}}"
"0000309765" "PDE6H"
"0000378392" "PDE6H"
"0000378393" "PDE6H"
"0000378478" "PDE6H"
"0000387430" "ABCA4"
"0000393050" "CNGB3"
"0000417295" "PDE6H"
"0000417296" "PDE6H"
"0000417297" "PDE6H"
"0000417298" "PDE6H"
"0000417299" "PDE6H"
"0000428229" "PDE6H"
## 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 = 25
"{{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}}"
"0000547298" "0" "90" "12" "15130981" "15130981" "subst" "8.53589E-5" "01943" "PDE6H_000001" "g.15130981C>G" "" "" "" "PDE6H(NM_006205.2):c.35C>G (p.S12*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14978047C>G" "" "pathogenic" ""
"0000547299" "0" "90" "12" "15130981" "15130981" "subst" "8.53589E-5" "02327" "PDE6H_000001" "g.15130981C>G" "" "" "" "PDE6H(NM_006205.2):c.35C>G (p.S12*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14978047C>G" "" "pathogenic" ""
"0000684638" "3" "70" "12" "15130981" "15130981" "subst" "8.53589E-5" "00004" "PDE6H_000001" "g.15130981C>G" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000791147" "11" "90" "12" "15126021" "15126021" "subst" "0" "00000" "PDE6H_000002" "g.15126021G>A" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.14973087G>A" "" "pathogenic" "ACMG"
"0000791148" "11" "90" "12" "15126021" "15126021" "subst" "0" "00000" "PDE6H_000002" "g.15126021G>A" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.14973087G>A" "" "pathogenic" "ACMG"
"0000791233" "3" "90" "12" "15130981" "15130981" "subst" "8.53589E-5" "00000" "PDE6H_000001" "g.15130981C>G" "0,00025 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.14978047C>G" "" "pathogenic" "ACMG"
"0000791241" "20" "90" "12" "15130981" "15130981" "subst" "8.53589E-5" "00000" "PDE6H_000001" "g.15130981C>G" "0,00025 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.14978047C>G" "" "pathogenic" "ACMG"
"0000791242" "20" "90" "12" "15130981" "15130981" "subst" "8.53589E-5" "00000" "PDE6H_000001" "g.15130981C>G" "0,00025 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.14978047C>G" "" "pathogenic" "ACMG"
"0000815598" "0" "90" "12" "15130981" "15130981" "subst" "8.53589E-5" "00000" "PDE6H_000001" "g.15130981C>G" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "PDE6H:NM_006205 c.C35G, p.S12X" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.14978047C>G" "" "pathogenic" "ACMG"
"0000823699" "0" "90" "12" "15130981" "15130981" "subst" "8.53589E-5" "00006" "PDE6H_000001" "g.15130981C>G" "" "{PMID:Langlo 2014:274798146}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000839715" "3" "70" "12" "15130981" "15130981" "subst" "8.53589E-5" "02404" "PDE6H_000001" "g.15130981C>G" "" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "" "Germline" "?" "" "0" "" "" "g.14978047C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000876926" "3" "70" "12" "15130981" "15130981" "subst" "8.53589E-5" "00000" "PDE6H_000001" "g.15130981C>G" "" "{PMID:Kohl 2012:22901948}" "" "PDE6H c.35C>G, p.(Ser12*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.14978047C>G" "" "likely pathogenic" ""
"0000876927" "3" "70" "12" "15130981" "15130981" "subst" "8.53589E-5" "00000" "PDE6H_000001" "g.15130981C>G" "" "{PMID:Kohl 2012:22901948}" "" "PDE6H c.35C>G, p.(Ser12*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.14978047C>G" "" "likely pathogenic" ""
"0000876928" "3" "70" "12" "15130981" "15130981" "subst" "8.53589E-5" "00000" "PDE6H_000001" "g.15130981C>G" "" "{PMID:Kohl 2012:22901948}" "" "PDE6H c.35C>G, p.(Ser12*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.14978047C>G" "" "likely pathogenic" ""
"0000876929" "3" "70" "12" "15130981" "15130981" "subst" "8.53589E-5" "00000" "PDE6H_000001" "g.15130981C>G" "" "{PMID:Pedurupillay 2016:27472364}" "" "PDE6H c.35C>G, p.(Ser12*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.14978047C>G" "" "likely pathogenic" ""
"0000876930" "3" "70" "12" "15130981" "15130981" "subst" "8.53589E-5" "00000" "PDE6H_000001" "g.15130981C>G" "" "{PMID:Pedurupillay 2016:27472364}" "" "PDE6H c.35C>G, p.(Ser12*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.14978047C>G" "" "likely pathogenic" ""
"0000905875" "0" "50" "12" "15134357" "15134357" "subst" "0" "00000" "PDE6H_000003" "g.15134357G>T" "" "{PMID:Zhu 2022:35456422}" "" "PDE6H c.199G>T, p.(Glu67*)" "homozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.14981423G>T" "" "VUS" "ACMG"
"0000905876" "0" "50" "12" "15134357" "15134357" "subst" "0" "00000" "PDE6H_000003" "g.15134357G>T" "" "{PMID:Zhu 2022:35456422}" "" "PDE6H c.199G>T, p.(Glu67*)" "homozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.14981423G>T" "" "VUS" "ACMG"
"0000957705" "0" "70" "12" "15130981" "15130981" "subst" "8.53589E-5" "00006" "PDE6H_000001" "g.15130981C>G" "" "{PMID:Szakszon 2024:37580113}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.14978047C>G" "" "VUS" ""
"0000999874" "0" "50" "12" "15130998" "15130998" "subst" "0" "01804" "PDE6H_000004" "g.15130998A>C" "" "" "" "PDE6H(NM_006205.2):c.52A>C (p.(Thr18Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001010306" "3" "90" "12" "15130981" "15130981" "subst" "8.53589E-5" "04752" "PDE6H_000001" "g.15130981C>G" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PVS1, PS4, PM3, PM2_sup" "Germline" "" "" "0" "" "" "g.14978047C>G" "" "pathogenic (recessive)" "ACMG"
"0001010307" "3" "90" "12" "15130981" "15130981" "subst" "8.53589E-5" "04752" "PDE6H_000001" "g.15130981C>G" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PVS1, PS4, PM3, PM2_sup" "Germline" "" "" "0" "" "" "g.14978047C>G" "" "pathogenic (recessive)" "ACMG"
"0001010308" "3" "90" "12" "15130981" "15130981" "subst" "8.53589E-5" "04752" "PDE6H_000001" "g.15130981C>G" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PVS1, PS4, PM3, PM2_sup" "Germline" "" "" "0" "" "" "g.14978047C>G" "" "pathogenic (recessive)" "ACMG"
"0001010309" "3" "90" "12" "15130981" "15130981" "subst" "8.53589E-5" "04752" "PDE6H_000001" "g.15130981C>G" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PVS1, PS4, PM3, PM2_sup" "Germline" "" "" "0" "" "" "g.14978047C>G" "" "pathogenic (recessive)" "ACMG"
"0001010310" "3" "90" "12" "15130981" "15130981" "subst" "8.53589E-5" "04752" "PDE6H_000001" "g.15130981C>G" "" "{PMID:Andersen 2023:36980963}" "" "" "ACMG PVS1, PS4, PM3, PM2_sup" "Germline" "" "" "0" "" "" "g.14978047C>G" "" "pathogenic (recessive)" "ACMG"
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes PDE6H
## Count = 25
"{{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}}"
"0000547298" "00015888" "90" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12Ter)" ""
"0000547299" "00015888" "90" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12Ter)" ""
"0000684638" "00015888" "70" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12*)" ""
"0000791147" "00015888" "90" "-42" "1" "-42" "1" "c.-42+1G>A" "r.spl" "p.(?)" "5\' UTR"
"0000791148" "00015888" "90" "-42" "1" "-42" "1" "c.-42+1G>A" "r.spl" "p.(?)" "5\' UTR"
"0000791233" "00015888" "90" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12*)" "2"
"0000791241" "00015888" "90" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12*)" "2"
"0000791242" "00015888" "90" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12*)" "2"
"0000815598" "00015888" "90" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12Ter)" ""
"0000823699" "00015888" "90" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12*)" ""
"0000839715" "00015888" "70" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12*)" ""
"0000876926" "00015888" "70" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12*)" "1"
"0000876927" "00015888" "70" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12*)" "1"
"0000876928" "00015888" "70" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12*)" "1"
"0000876929" "00015888" "70" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12*)" ""
"0000876930" "00015888" "70" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12*)" ""
"0000905875" "00015888" "50" "199" "0" "199" "0" "c.199G>T" "r.(?)" "p.(Glu67*)" ""
"0000905876" "00015888" "50" "199" "0" "199" "0" "c.199G>T" "r.(?)" "p.(Glu67*)" ""
"0000957705" "00015888" "70" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12*)" ""
"0000999874" "00015888" "50" "52" "0" "52" "0" "c.52A>C" "r.(?)" "p.(Thr18Pro)" ""
"0001010306" "00015888" "90" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12Ter)" ""
"0001010307" "00015888" "90" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12Ter)" ""
"0001010308" "00015888" "90" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12Ter)" ""
"0001010309" "00015888" "90" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12Ter)" ""
"0001010310" "00015888" "90" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12Ter)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 22
"{{screeningid}}" "{{variantid}}"
"0000309765" "0000684638"
"0000378392" "0000791147"
"0000378392" "0000791241"
"0000378393" "0000791148"
"0000378393" "0000791242"
"0000378478" "0000791233"
"0000387430" "0000815598"
"0000393050" "0000823699"
"0000404121" "0000839715"
"0000417295" "0000876926"
"0000417296" "0000876927"
"0000417297" "0000876928"
"0000417298" "0000876929"
"0000417299" "0000876930"
"0000428229" "0000905875"
"0000428229" "0000905876"
"0000448301" "0000957705"
"0000456620" "0001010306"
"0000456621" "0001010307"
"0000456622" "0001010308"
"0000456623" "0001010309"
"0000456624" "0001010310"