### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GRK1)
# 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}}"
"GRK1" "G protein-coupled receptor kinase 1" "13" "q34" "unknown" "NC_000013.10" "UD_139311600174" "" "https://www.LOVD.nl/GRK1" "" "1" "10013" "6011" "180381" "1" "1" "1" "1" "This database is one of the ”Eye disease” gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/GRK1_codingDNA.html" "1" "" "" "-1" "" "-1" "00006" "2012-07-04 00:00:00" "00006" "2017-01-26 21:21:39" "00006" "2025-04-07 13:47:05"
## 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}}"
"00024221" "GRK1" "G protein-coupled receptor kinase 1" "002" "NM_002929.2" "" "NP_002920.1" "" "" "" "-108" "985" "985" "113667279" "113671656" "00006" "2017-01-26 21:21:57" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"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"
"00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25"
"01980" "CSNBO1" "Oguchi disease 1 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-1))" "AR" "258100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"03329" "CSNBO2" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "" "613411" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"GRK1" "03329"
## Individuals ## Do not remove or alter this header ##
## Count = 48
"{{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}}"
"00095924" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61015"
"00095929" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61029"
"00238997" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" ""
"00328473" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "no family history retinal disease" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15015158"
"00375413" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#005"
"00376170" "" "" "" "1" "" "00000" "{PMID:Jin 2008:18310263}" "" "" "" "Japan" "" "0" "" "" "" ""
"00379628" "" "" "" "1" "" "00000" "{PMID:Godara-2012:22959359}" "" "M" "" "" "" "0" "" "" "" ""
"00379629" "" "" "" "1" "" "00000" "{PMID:Godara-2012:22959359}" "" "M" "" "" "" "0" "" "" "" ""
"00382309" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "138"
"00382788" "" "" "" "1" "" "00000" "{PMID:Azam-2011:21987686}" "" "" "yes" "Pakistan" "" "0" "" "" "pakistani" ""
"00395850" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F268"
"00413695" "" "" "" "1" "" "00000" "{PMID:Mucciolo 2018:28511019}" "proband; parents consanguineous; cousin affected with retinitis pigmentosa" "F" "yes" "" "" "0" "" "" "Italian" "?"
"00413696" "" "" "" "1" "" "00000" "{PMID:Teke 2016:27511724}" "parents first cousins; sibling 1" "M" "yes" "Turkey" "" "0" "" "" "Turkish" "case 1"
"00413697" "" "" "" "1" "" "00000" "{PMID:Teke 2016:27511724}" "parents first cousins; sibling 2" "F" "yes" "Turkey" "" "0" "" "" "Turkish" "case 2"
"00413698" "" "" "" "1" "" "00000" "{PMID:Teke 2016:27511724}" "parents first cousins; sibling 3" "F" "yes" "Turkey" "" "0" "" "" "Turkish" "case 3"
"00413699" "" "" "" "1" "" "00000" "{PMID:Teke 2016:27511724}" "parents first cousins; sibling 4" "F" "yes" "Turkey" "" "0" "" "" "Turkish" "case 4"
"00413700" "" "" "" "1" "" "00000" "{PMID:Skorczyk-Werner 2015:26349155}" "maternal grandparents and paternal grandfather of the patient lived in two villages located just 15 km one from another" "M" "likely" "Poland" "" "0" "" "" "Polish" "?"
"00413822" "" "" "" "1" "" "00000" "{PMID:Azam 2009:19753316}" "Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community" "?" "" "Pakistan" "" "0" "" "" "Pakistani" "IV-1"
"00413823" "" "" "" "1" "" "00000" "{PMID:Azam 2009:19753316}" "Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community" "?" "" "Pakistan" "" "0" "" "" "Pakistani" "IV-2"
"00413824" "" "" "" "1" "" "00000" "{PMID:Azam 2009:19753316}" "Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community" "?" "" "Pakistan" "" "0" "" "" "Pakistani" "IV-3"
"00413825" "" "" "" "1" "" "00000" "{PMID:Azam 2009:19753316}" "Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community" "?" "" "Pakistan" "" "0" "" "" "Pakistani" "V-9"
"00413826" "" "" "" "1" "" "00000" "{PMID:Azam 2009:19753316}" "Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community" "?" "" "Pakistan" "" "0" "" "" "Pakistani" "V-10"
"00413827" "" "" "" "1" "" "00000" "{PMID:Azam 2009:19753316}" "Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community" "?" "" "Pakistan" "" "0" "" "" "Pakistani" "V-11"
"00413828" "" "" "" "1" "" "00000" "{PMID:Azam 2009:19753316}" "Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community" "?" "" "Pakistan" "" "0" "" "" "Pakistani" "V-1"
"00413829" "" "" "" "1" "" "00000" "{PMID:Azam 2009:19753316}" "Family RP19 - five-generation pedigree; in two branches (IV6/IV7, IV8/IV9, and their children) the parents are first cousins, a consanguineous relationship between III-1 and III-2 is not known, although they belong to the same community" "?" "" "Pakistan" "" "0" "" "" "Pakistani" "V-5"
"00413843" "" "" "" "1" "" "00000" "{PMID:Yamamoto 1997:9020843}" "family #L435" "F" "" "" "" "0" "" "" "" "303-002"
"00413844" "" "" "" "1" "" "00000" "{PMID:Yamamoto 1997:9020843}" "family #L435" "F" "" "" "" "0" "" "" "" "303-004"
"00413845" "" "" "" "1" "" "00000" "{PMID:Yamamoto 1997:9020843}" "family #F277; parents first cousins" "F" "yes" "" "" "0" "" "" "Jewish ancestry" "303-003"
"00413846" "" "" "" "1" "" "00000" "{PMID:Yamamoto 1997:9020843}" "family #3363" "M" "" "" "" "0" "" "" "Jewish ancestry" "303-001"
"00413847" "" "" "" "1" "" "00000" "{PMID:Yamamoto 1997:9268593}" "dominant family, no other family members have the variant" "" "" "" "" "0" "" "" "" "II:1"
"00413848" "" "" "" "1" "" "00000" "{PMID:Yamamoto 1997:9268593}" "recessive family, two affected and two unaffected family members have the variant, no other variants detected" "" "" "" "" "0" "" "" "" "II:1"
"00413849" "" "" "" "1" "" "00000" "{PMID:Yamamoto 1997:9268593}" "dominant family, no other family members have the variant" "" "" "" "" "0" "" "" "" "III:6"
"00413850" "" "" "" "1" "" "00000" "{PMID:Yamamoto 1997:9268593}" "dominant family, only two unaffected family members have the variant" "" "" "" "" "0" "" "" "" "III:2"
"00413851" "" "" "" "1" "" "00000" "{PMID:Yamamoto 1997:9268593}" "dominant family, one affected and one unaffected family member have the variant" "" "" "" "" "0" "" "" "" "II:4"
"00413852" "" "" "" "1" "" "00000" "{PMID:Yamamoto 1997:9268593}" "recessive family, one affected family members have the variant, no other variants detected" "" "" "" "" "0" "" "" "" "II:2"
"00413853" "" "" "" "1" "" "00000" "{PMID:Yamamoto 1997:9268593}" "dominant family, no other family members have the variant" "" "" "" "" "0" "" "" "" "III:5"
"00413854" "" "" "" "1" "" "00000" "{PMID:Yamamoto 1997:9268593}" "recessive family, one affected and one unaffected family member have the variant, no other variants detected" "" "" "" "" "0" "" "" "" "II:2"
"00413860" "" "" "" "1" "" "00000" "{PMID:Zhang 2005:16319817}" "Family 61029" "M" "yes" "" "" "0" "" "" "Pakistani" "IV:2"
"00413861" "" "" "" "1" "" "00000" "{PMID:Zhang 2005:16319817}" "Family 61029" "F" "yes" "" "" "0" "" "" "Pakistani" "IV:3"
"00413862" "" "" "" "1" "" "00000" "{PMID:Zhang 2005:16319817}" "Family 61029" "F" "yes" "" "" "0" "" "" "Pakistani" "IV:5"
"00413881" "" "" "" "1" "" "00000" "{PMID:Hayashi 2007:17070587}" "consanguineous Japanese family (JU#0008), parents first cousins; brother of III:3" "M" "yes" "Japan" "" "0" "" "" "Japanese" "III:2"
"00413882" "" "" "" "1" "" "00000" "{PMID:Hayashi 2007:17070587}" "consanguineous Japanese family (JU#0008), parents first cousins; sister of III:2" "F" "yes" "Japan" "" "0" "" "" "Japanese" "III:3"
"00413904" "" "" "" "1" "" "00000" "{PMID:Oishi 2007:17765441}" "" "F" "no" "Japan" "" "0" "" "" "Japanese" "Patient 1"
"00413905" "" "" "" "1" "" "00000" "{PMID:Oishi 2007:17765441}" "" "F" "no" "Japan" "" "0" "" "" "Japanese" "Patient 2"
"00420561" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F268"
"00429776" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00447189" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "F" "" "Germany" "" "0" "" "" "" "MISC-136"
"00447547" "" "" "" "3" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 3 affected" "M" "" "Germany" "" "0" "" "" "" "CSNB-128"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 48
"{{individualid}}" "{{diseaseid}}"
"00095924" "00381"
"00095929" "01980"
"00238997" "00198"
"00328473" "04214"
"00375413" "04214"
"00376170" "04214"
"00379628" "04214"
"00379629" "04214"
"00382309" "04214"
"00382788" "04214"
"00395850" "04214"
"00413695" "04214"
"00413696" "04214"
"00413697" "04214"
"00413698" "04214"
"00413699" "04214"
"00413700" "04214"
"00413822" "04214"
"00413823" "04214"
"00413824" "04214"
"00413825" "04214"
"00413826" "04214"
"00413827" "04214"
"00413828" "04214"
"00413829" "04214"
"00413843" "04214"
"00413844" "04214"
"00413845" "04214"
"00413846" "04214"
"00413847" "04214"
"00413848" "04214"
"00413849" "04214"
"00413850" "04214"
"00413851" "04214"
"00413852" "04214"
"00413853" "04214"
"00413854" "04214"
"00413860" "04214"
"00413861" "04214"
"00413862" "04214"
"00413881" "04214"
"00413882" "04214"
"00413904" "04214"
"00413905" "04214"
"00420561" "04214"
"00429776" "00112"
"00447189" "00198"
"00447547" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 00381, 01980, 03329, 04214
## Count = 48
"{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000074214" "04211" "00095924" "01769" "Familial, autosomal recessive" "" "Stationary RD" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000074218" "01980" "00095929" "01769" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" ""
"0000179282" "00198" "00238997" "01807" "Unknown" "" "HP:0007642 (Congenital stationary night blindness)" "" "" "" "" "" "" "" "" "" ""
"0000246699" "04214" "00328473" "00000" "Familial, autosomal recessive" "12y" "congenital stationary night blindness (HP:0007642)" "" "" "" "" "" "" "" "" "congenital stationary night blindness" ""
"0000270627" "04214" "00375413" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000271380" "04214" "00376170" "00000" "Di-genic" "" "" "" "" "" "" "" "" "" "" "multiplex renitis pigmentosa" ""
"0000273472" "04214" "00379628" "00008" "Unknown" "41y" "" "" "" "" "" "" "" "" "" "Oguchi disease" ""
"0000273473" "04214" "00379629" "00008" "Unknown" "47y" "" "" "" "" "" "" "" "" "" "Oguchi disease" ""
"0000276158" "04214" "00382309" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" ""
"0000276644" "04214" "00382788" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000289012" "04214" "00395850" "00000" "Unknown" "69y" "" "59y" "" "" "" "" "" "" "Oguchi disease" "" ""
"0000305660" "04214" "00413695" "00000" "Familial, autosomal recessive" "32y" "night blindness since childhood without other ophthalmological symptoms; best corrected visual acuity: 20/20 both eyes, no refractive errors, anterior segment and intraocular pressure unremarkable; fundus appearance: characteristic golden-yellow reflex throughout the posterior pole to mid-peripheral retina and the Mizuo-Nakamura phenomenon in both eyes, in which the distinctive color of the fundus changed to normal after prolonged dark adaptation; neither vascular attenuation nor degenerative change was seen throughout the retina; Goldmann visual field: within normal limits in each eye; optical coherence tomography:normal in the right eye, left eye normal except for the presence of a small subretinal drusenoid-like deposit at the posterior pole, inside the vascular arcades; peripheral OCT scan, where golden-yellow reflex was present, the OCT image showed a hyper-reflective alteration in correspondence of photoreceptor outer segments; after prolonged dark adaptation, in the absence of the characteristic reflex, normal outer retinal layer OCT segmentation in the same scan; full-field electroretinogram: extinguished scotopic response, a reduction in both a-wave and b-wave amplitudes in the standard combined ERG with a predominant reduction in b-waves (“negative” configuration) and almost normal photopic amplitudes; full-field standard ERG repeated after patching, it was possible to record a scotopic response; fundus autofluoresence: substantially normal in both eyes, in the left eye there was a small hyper-fluorescent dot corresponding to the small subretinal drusenoid-like dep" "" "28y" "night blindness since childhood" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "" ""
"0000305661" "04214" "00413696" "00000" "Familial, autosomal recessive" "12y" "whole family descrition: best corrected visual acuity: 20/20 bilaterally, no refractive error; normal intraocular eye pressure; eyes phakic, slit-lamp examination: normal; fundus examination: characteristic golden metallic reflex in all areas of the fundus; the Mizuo-Nakamura phenomenon demonstrated: the fundus color changed to normal after three hours of dark adaptati" "" "" "nyctalopia since early childhood" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "" ""
"0000305662" "04214" "00413697" "00000" "Familial, autosomal recessive" "14y" "whole family descrition: best corrected visual acuity: 20/20 bilaterally, no refractive error; normal intraocular eye pressure; eyes phakic, slit-lamp examination: normal; fundus examination: characteristic golden metallic reflex in all areas of the fundus; the Mizuo-Nakamura phenomenon demonstrated: the fundus color changed to normal after three hours of dark adaptati" "" "" "nyctalopia since early childhood" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "" ""
"0000305663" "04214" "00413698" "00000" "Familial, autosomal recessive" "16y" "whole family descrition: best corrected visual acuity: 20/20 bilaterally, no refractive error; normal intraocular eye pressure; eyes phakic, slit-lamp examination: normal; fundus examination: characteristic golden metallic reflex in all areas of the fundus; the Mizuo-Nakamura phenomenon demonstrated: the fundus color changed to normal after three hours of dark adaptati" "" "" "nyctalopia since early childhood" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "" ""
"0000305664" "04214" "00413699" "00000" "Familial, autosomal recessive" "19y" "whole family descrition: best corrected visual acuity: 20/20 bilaterally, no refractive error; normal intraocular eye pressure; eyes phakic, slit-lamp examination: normal; fundus examination: characteristic golden metallic reflex in all areas of the fundus; the Mizuo-Nakamura phenomenon demonstrated: the fundus color changed to normal after three hours of dark adaptati" "" "" "nyctalopia since early childhood" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "" ""
"0000305665" "04214" "00413700" "00000" "Familial, autosomal recessive" "13y" "normal visual acuity, normal anterior segment of both eyes and full visual field; fundus examination: a typical golden-brownish discoloration of the peripheral retina disappearing after long dark adaptation with no pigment deposits; full-field electroretinography: reduced amplitudes of both waves under scotopic conditions, photopic conditions: both shape and parameters of the record within the normal limits" "" "" "nyctalopia since early childhood" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "" ""
"0000305787" "04214" "00413822" "00000" "Familial, autosomal recessive" "" "whole family description: congenital stationary night blindness along with diffuse gray discoloration of the fundus; the Mizuo-Nakamura phenomenon after dark adaptation of 2 h; electroretinogram: nonrecordable rod responses - characteristic for patients affected with Oguchi disease" "" "" "" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "retinitis pigmentosa" ""
"0000305788" "04214" "00413823" "00000" "Familial, autosomal recessive" "" "whole family description: congenital stationary night blindness along with diffuse gray discoloration of the fundus; the Mizuo-Nakamura phenomenon after dark adaptation of 2 h; electroretinogram: nonrecordable rod responses - characteristic for patients affected with Oguchi disease" "" "" "" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "retinitis pigmentosa" ""
"0000305789" "04214" "00413824" "00000" "Familial, autosomal recessive" "" "whole family description: congenital stationary night blindness along with diffuse gray discoloration of the fundus; the Mizuo-Nakamura phenomenon after dark adaptation of 2 h; electroretinogram: nonrecordable rod responses - characteristic for patients affected with Oguchi disease" "" "" "" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "retinitis pigmentosa" ""
"0000305790" "04214" "00413825" "00000" "Familial, autosomal recessive" "" "whole family description: congenital stationary night blindness along with diffuse gray discoloration of the fundus; the Mizuo-Nakamura phenomenon after dark adaptation of 2 h; electroretinogram: nonrecordable rod responses - characteristic for patients affected with Oguchi disease" "" "" "" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "retinitis pigmentosa" ""
"0000305791" "04214" "00413826" "00000" "Familial, autosomal recessive" "" "whole family description: congenital stationary night blindness along with diffuse gray discoloration of the fundus; the Mizuo-Nakamura phenomenon after dark adaptation of 2 h; electroretinogram: nonrecordable rod responses - characteristic for patients affected with Oguchi disease" "" "" "" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "retinitis pigmentosa" ""
"0000305792" "04214" "00413827" "00000" "Familial, autosomal recessive" "" "whole family description: congenital stationary night blindness along with diffuse gray discoloration of the fundus; the Mizuo-Nakamura phenomenon after dark adaptation of 2 h; electroretinogram: nonrecordable rod responses - characteristic for patients affected with Oguchi disease" "" "" "" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "retinitis pigmentosa" ""
"0000305793" "04214" "00413828" "00000" "Familial, autosomal recessive" "" "whole family description: congenital stationary night blindness along with diffuse gray discoloration of the fundus; the Mizuo-Nakamura phenomenon after dark adaptation of 2 h; electroretinogram: nonrecordable rod responses - characteristic for patients affected with Oguchi disease" "" "" "" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "retinitis pigmentosa" ""
"0000305794" "04214" "00413829" "00000" "Familial, autosomal recessive" "" "whole family description: congenital stationary night blindness along with diffuse gray discoloration of the fundus; the Mizuo-Nakamura phenomenon after dark adaptation of 2 h; electroretinogram: nonrecordable rod responses - characteristic for patients affected with Oguchi disease" "" "" "" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "retinitis pigmentosa" ""
"0000305804" "04214" "00413843" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "" ""
"0000305805" "04214" "00413844" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "" ""
"0000305806" "04214" "00413845" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "" ""
"0000305807" "04214" "00413846" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "" ""
"0000305808" "04214" "00413847" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000305809" "04214" "00413848" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000305810" "04214" "00413849" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000305811" "04214" "00413850" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000305812" "04214" "00413851" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000305813" "04214" "00413852" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000305814" "04214" "00413853" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000305815" "04214" "00413854" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000305820" "04214" "00413860" "00000" "Familial, autosomal recessive" "19y" "best corrected visual acuity: 20/20; peripheral retina: irregular course pigmentation but not gross pigmentary clumping, normal caliber of retinal blood vessels; fundus appearance before and after 4 h of dark adaptation: similar except that the peripheral retinal pigmentary changes were slightly less evident after the extended dark adaptation; electroretinogram: slow recovery to nearly normal amplitude after 4 h in the dark but not after only 30 min; cone ERG amplitude essentially normal" "" "" "night blindness apparent by early childhood" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "" ""
"0000305821" "04214" "00413861" "00000" "Familial, autosomal recessive" "16y" "best corrected visual acuity: 20/20; peripheral retina: irregular course pigmentation but not gross pigmentary clumping, normal caliber of retinal blood vessels; fundus appearance before and after 4 h of dark adaptation: similar except that the peripheral retinal pigmentary changes were slightly less evident after the extended dark adaptation; electroretinogram: minimal or no rod function even after 4 h dark-adaptation, cone 30 Hz flicker response amplitudes: normal" "" "" "night blindness apparent by early childhood" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "" ""
"0000305822" "04214" "00413862" "00000" "Familial, autosomal recessive" "13y" "best corrected visual acuity: 20/20; peripheral retina: irregular course pigmentation but not gross pigmentary clumping, normal caliber of retinal blood vessels; fundus appearance before and after 4 h of dark adaptation: similar except that the peripheral retinal pigmentary changes were slightly less evident after the extended dark adaptation; electroretinogram: minimal or no rod function even after 4 h dark-adaptation, cone 30 Hz flicker response amplitudes: normal" "" "" "night blindness apparent by early childhood" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "" ""
"0000305840" "04214" "00413881" "00000" "Familial, autosomal recessive" "35y" "best corrected visual acuity right/left eye: 1.5/1.5; color vision: normal; cone electroretinography results: reduced" "" "" "" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "" ""
"0000305841" "04214" "00413882" "00000" "Familial, autosomal recessive" "31y" "best corrected visual acuity right/left eye: 1.5/1.5; color vision: normal; cone electroretinography results: reduced" "" "" "" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "" ""
"0000305861" "04214" "00413904" "00000" "Familial, autosomal recessive" "18y" "" "" "7y" "night blindness" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "" ""
"0000305862" "04214" "00413905" "00000" "Familial, autosomal recessive" "17y" "" "14y" "" "night blindness" "" "" "" "" "Oguchi disease 2 (night blindness, stationary, congenitial, Oguchi type 1 (CSNBO-2))" "" ""
"0000311809" "04214" "00420561" "00000" "Familial, autosomal recessive" "69y" "" "59y" "" "" "" "" "" "" "Oguchi disease" "" ""
"0000320648" "00112" "00429776" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" ""
"0000336388" "00198" "00447189" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "eye diseaes" ""
"0000336746" "00198" "00447547" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" ""
## Screenings ## Do not remove or alter this header ##
## Count = 48
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000096327" "00095924" "1" "01769" "01769" "2017-01-25 20:09:28" "" "" "SEQ" "DNA" "WBC" ""
"0000096332" "00095929" "1" "01769" "01769" "2017-01-25 20:57:19" "" "" "SEQ" "DNA" "WBC" ""
"0000240102" "00238997" "1" "01807" "01807" "2019-05-30 15:46:56" "" "" "SEQ" "DNA" "" ""
"0000329688" "00328473" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000376610" "00375413" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000377366" "00376170" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC" "DNA" "blood" ""
"0000380827" "00379628" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ" "DNA" "blood" ""
"0000380828" "00379629" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ" "DNA" "blood" ""
"0000383523" "00382309" "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"
"0000384004" "00382788" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "arraySNP" "DNA" "" ""
"0000397089" "00395850" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000414975" "00413695" "1" "00000" "03840" "2022-07-21 16:16:03" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000414976" "00413696" "1" "00000" "03840" "2022-07-21 16:32:59" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000414977" "00413697" "1" "00000" "03840" "2022-07-21 16:32:59" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000414978" "00413698" "1" "00000" "03840" "2022-07-21 16:32:59" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000414979" "00413699" "1" "00000" "03840" "2022-07-21 16:32:59" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000414980" "00413700" "1" "00000" "03840" "2022-07-21 18:10:08" "" "" "arraySNP;SEQ" "DNA" "blood" "APEX mutation array"
"0000415102" "00413822" "1" "00000" "03840" "2022-07-22 12:03:53" "" "" "arraySNP;RFLP;SEQ" "DNA" "blood" "Affymetrix 10K single nucleotide polymorphism (SNP) array containing 10,204 SNPs"
"0000415103" "00413823" "1" "00000" "03840" "2022-07-22 12:03:53" "" "" "arraySNP;RFLP;SEQ" "DNA" "blood" "Affymetrix 10K single nucleotide polymorphism (SNP) array containing 10,204 SNPs"
"0000415104" "00413824" "1" "00000" "03840" "2022-07-22 12:03:53" "" "" "arraySNP;SEQ" "DNA" "blood" "Affymetrix 10K single nucleotide polymorphism (SNP) array containing 10,204 SNPs"
"0000415105" "00413825" "1" "00000" "03840" "2022-07-22 12:03:53" "" "" "arraySNP;RFLP;SEQ" "DNA" "blood" "Affymetrix 10K single nucleotide polymorphism (SNP) array containing 10,204 SNPs"
"0000415106" "00413826" "1" "00000" "03840" "2022-07-22 12:03:53" "" "" "arraySNP;RFLP;SEQ" "DNA" "blood" "Affymetrix 10K single nucleotide polymorphism (SNP) array containing 10,204 SNPs"
"0000415107" "00413827" "1" "00000" "03840" "2022-07-22 12:03:53" "" "" "arraySNP;RFLP;SEQ" "DNA" "blood" "Affymetrix 10K single nucleotide polymorphism (SNP) array containing 10,204 SNPs"
"0000415108" "00413828" "1" "00000" "03840" "2022-07-22 12:03:53" "" "" "RFLP" "DNA" "blood" ""
"0000415109" "00413829" "1" "00000" "03840" "2022-07-22 12:03:53" "" "" "RFLP" "DNA" "blood" ""
"0000415123" "00413843" "1" "00000" "03840" "2022-07-25 10:59:37" "" "" "SSCA;SEQ" "DNA" "blood" ""
"0000415124" "00413844" "1" "00000" "03840" "2022-07-25 10:59:37" "" "" "SSCA;SEQ" "DNA" "blood" ""
"0000415125" "00413845" "1" "00000" "03840" "2022-07-25 10:59:37" "" "" "SSCA;SEQ" "DNA" "blood" ""
"0000415126" "00413846" "1" "00000" "03840" "2022-07-25 10:59:37" "" "" "SSCA;SEQ" "DNA" "blood" ""
"0000415127" "00413847" "1" "00000" "03840" "2022-07-25 12:24:41" "" "" "SSCA" "DNA" "" ""
"0000415128" "00413848" "1" "00000" "03840" "2022-07-25 12:24:41" "" "" "SSCA" "DNA" "" ""
"0000415129" "00413849" "1" "00000" "03840" "2022-07-25 12:24:41" "" "" "SSCA" "DNA" "" ""
"0000415130" "00413850" "1" "00000" "03840" "2022-07-25 12:24:41" "" "" "SSCA" "DNA" "" ""
"0000415131" "00413851" "1" "00000" "03840" "2022-07-25 12:24:41" "" "" "SSCA" "DNA" "" ""
"0000415132" "00413852" "1" "00000" "03840" "2022-07-25 12:24:41" "" "" "SSCA" "DNA" "" ""
"0000415133" "00413853" "1" "00000" "03840" "2022-07-25 12:24:41" "" "" "SSCA" "DNA" "" ""
"0000415134" "00413854" "1" "00000" "03840" "2022-07-25 12:24:41" "" "" "SSCA" "DNA" "" ""
"0000415139" "00413860" "1" "00000" "03840" "2022-07-25 13:00:04" "" "" "arraySNP;SEQ" "DNA" "blood" ""
"0000415140" "00413861" "1" "00000" "03840" "2022-07-25 13:00:04" "" "" "arraySNP;SEQ" "DNA" "blood" ""
"0000415141" "00413862" "1" "00000" "03840" "2022-07-25 13:00:04" "" "" "arraySNP;SEQ" "DNA" "blood" ""
"0000415161" "00413881" "1" "00000" "03840" "2022-07-25 13:43:59" "" "" "SEQ" "DNA" "blood" ""
"0000415162" "00413882" "1" "00000" "03840" "2022-07-25 13:43:59" "" "" "SEQ" "DNA" "blood" ""
"0000415184" "00413904" "1" "00000" "03840" "2022-07-25 14:54:02" "" "" "SEQ" "DNA" "blood" ""
"0000415185" "00413905" "1" "00000" "03840" "2022-07-25 14:54:02" "" "" "SEQ" "DNA" "blood" ""
"0000421870" "00420561" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000431189" "00429776" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000448766" "00447189" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449124" "00447547" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 44
"{{screeningid}}" "{{geneid}}"
"0000096327" "GRK1"
"0000096332" "GRK1"
"0000329688" "GRK1"
"0000377366" "GRK1"
"0000380827" "GRK1"
"0000380828" "GRK1"
"0000383523" "GRK1"
"0000384004" "GRK1"
"0000397089" "GRK1"
"0000414975" "GRK1"
"0000414976" "GRK1"
"0000414977" "GRK1"
"0000414978" "GRK1"
"0000414979" "GRK1"
"0000414980" "GRK1"
"0000415102" "GRK1"
"0000415103" "GRK1"
"0000415104" "GRK1"
"0000415105" "GRK1"
"0000415106" "GRK1"
"0000415107" "GRK1"
"0000415108" "GRK1"
"0000415109" "GRK1"
"0000415123" "GRK1"
"0000415124" "GRK1"
"0000415125" "GRK1"
"0000415126" "GRK1"
"0000415127" "GRK1"
"0000415128" "GRK1"
"0000415129" "GRK1"
"0000415130" "GRK1"
"0000415131" "GRK1"
"0000415132" "GRK1"
"0000415133" "GRK1"
"0000415134" "GRK1"
"0000415139" "GRK1"
"0000415140" "GRK1"
"0000415141" "GRK1"
"0000415161" "GRK1"
"0000415162" "GRK1"
"0000415184" "GRK1"
"0000415185" "GRK1"
"0000421870" "GRK1"
"0000431189" "GRK1"
## 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 = 106
"{{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}}"
"0000158320" "3" "90" "13" "114321756" "114321756" "subst" "7.59885E-5" "01769" "GRK1_000001" "g.114321756C>T" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "" "0" "" "" "g.113667441C>T" "" "pathogenic" ""
"0000158325" "3" "90" "13" "114324752" "114325869" "del" "0" "01769" "GRK1_000002" "g.114324752_114325869del" "" "{PMID:Li 2017:28418496}" "" "827+623_883del" "" "Germline" "yes" "" "0" "" "" "g.113670437_113671554del" "" "pathogenic" ""
"0000248664" "0" "10" "13" "114322289" "114322289" "subst" "0.675337" "02325" "GRK1_000007" "g.114322289A>G" "" "" "" "GRK1(NM_002929.3):c.588A>G (p.L196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113667974A>G" "" "benign" ""
"0000255281" "0" "30" "13" "114322407" "114322407" "subst" "0.00514866" "01943" "GRK1_000009" "g.114322407A>G" "" "" "" "GRK1(NM_002929.3):c.699+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113668092A>G" "" "likely benign" ""
"0000256376" "0" "50" "13" "114325828" "114325828" "subst" "4.0808E-6" "01943" "GRK1_000010" "g.114325828A>G" "" "" "" "GRK1(NM_002929.3):c.842A>G (p.N281S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113671513A>G" "" "VUS" ""
"0000277483" "0" "10" "13" "114426144" "114426144" "subst" "0.000598872" "02330" "GRK1_000013" "g.114426144C>T" "" "" "" "GRK1(NM_002929.3):c.1069+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113723171C>T" "" "benign" ""
"0000277484" "0" "10" "13" "114435898" "114435898" "subst" "0.00178254" "02330" "GRK1_000014" "g.114435898C>T" "" "" "" "GRK1(NM_002929.3):c.1236C>T (p.P412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113732925C>T" "" "benign" ""
"0000277485" "0" "10" "13" "114436054" "114436054" "subst" "7.32139E-6" "02330" "GRK1_000016" "g.114436054G>A" "" "" "" "GRK1(NM_002929.3):c.1392G>A (p.E464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113733081G>A" "" "benign" ""
"0000277486" "0" "30" "13" "114438121" "114438121" "subst" "5.0941E-5" "02330" "GRK1_000017" "g.114438121G>A" "" "" "" "GRK1(NM_002929.3):c.1477G>A (p.V493I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113735148G>A" "" "likely benign" ""
"0000277487" "0" "10" "13" "114321863" "114321863" "subst" "0.00085352" "02330" "GRK1_000004" "g.114321863C>T" "" "" "" "GRK1(NM_002929.3):c.162C>T (p.L54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113667548C>T" "" "benign" ""
"0000277488" "0" "30" "13" "114438252" "114438252" "subst" "0.000415688" "02330" "GRK1_000018" "g.114438252G>A" "" "" "" "GRK1(NM_002929.3):c.1608G>A (p.S536=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113735279G>A" "" "likely benign" ""
"0000277489" "0" "50" "13" "114438267" "114438267" "subst" "0.000365877" "02330" "GRK1_000019" "g.114438267G>A" "" "" "" "GRK1(NM_002929.3):c.1623G>A (p.P541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113735294G>A" "" "VUS" ""
"0000277490" "0" "50" "13" "114322027" "114322027" "subst" "8.12427E-6" "02330" "GRK1_000005" "g.114322027C>T" "" "" "" "GRK1(NM_002929.3):c.326C>T (p.T109I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113667712C>T" "" "VUS" ""
"0000277491" "0" "50" "13" "114322212" "114322212" "subst" "0" "02330" "GRK1_000006" "g.114322212T>C" "" "" "" "GRK1(NM_002929.3):c.511T>C (p.F171L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113667897T>C" "" "VUS" ""
"0000277492" "0" "10" "13" "114321711" "114321711" "subst" "0.000419754" "02330" "GRK1_000003" "g.114321711G>A" "" "" "" "GRK1(NM_002929.3):c.10G>A (p.G4R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113667396G>A" "" "benign" ""
"0000277493" "0" "30" "13" "114325856" "114325856" "subst" "0.000148042" "02330" "GRK1_000011" "g.114325856G>A" "" "" "" "GRK1(NM_002929.3):c.870G>A (p.P290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113671541G>A" "" "likely benign" ""
"0000288796" "0" "50" "13" "114436001" "114436001" "subst" "7.27643E-6" "01943" "GRK1_000015" "g.114436001G>A" "" "" "" "GRK1(NM_002929.3):c.1339G>A (p.D447N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113733028G>A" "" "VUS" ""
"0000288797" "0" "30" "13" "114321863" "114321863" "subst" "0.00085352" "01943" "GRK1_000004" "g.114321863C>T" "" "" "" "GRK1(NM_002929.3):c.162C>T (p.L54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113667548C>T" "" "likely benign" ""
"0000288798" "0" "30" "13" "114322394" "114322394" "subst" "0.0121999" "01943" "GRK1_000008" "g.114322394C>T" "" "" "" "GRK1(NM_002929.3):c.693C>T (p.G231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113668079C>T" "" "likely benign" ""
"0000484100" "3" "90" "13" "114317313" "114325241" "del" "0" "01807" "GRK1_000020" "g.114317313_114325241del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.113662998_113670926del" "" "pathogenic" ""
"0000549874" "0" "30" "13" "114321861" "114321861" "subst" "0.00151611" "01943" "GRK1_000021" "g.114321861C>T" "" "" "" "GRK1(NM_002929.3):c.160C>T (p.L54F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113667546C>T" "" "likely benign" ""
"0000549875" "0" "50" "13" "114322271" "114322271" "subst" "0" "02330" "GRK1_000022" "g.114322271C>A" "" "" "" "GRK1(NM_002929.3):c.570C>A (p.F190L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113667956C>A" "" "VUS" ""
"0000549876" "0" "10" "13" "114322416" "114322416" "subst" "0.00315874" "02330" "GRK1_000023" "g.114322416C>T" "" "" "" "GRK1(NM_002929.3):c.699+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113668101C>T" "" "benign" ""
"0000549877" "0" "10" "13" "114323997" "114323997" "subst" "0.532955" "02325" "GRK1_000024" "g.114323997T>C" "" "" "" "GRK1(NM_002929.3):c.700-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113669682T>C" "" "benign" ""
"0000549878" "0" "50" "13" "114324086" "114324086" "subst" "2.03047E-5" "01943" "GRK1_000025" "g.114324086G>A" "" "" "" "GRK1(NM_002929.3):c.784G>A (p.D262N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113669771G>A" "" "VUS" ""
"0000549881" "0" "10" "13" "114426137" "114426137" "subst" "0" "02330" "GRK1_000028" "g.114426137G>A" "" "" "" "GRK1(NM_002929.3):c.1069+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113723164G>A" "" "benign" ""
"0000549882" "0" "30" "13" "114434205" "114434205" "subst" "0.00123169" "01943" "GRK1_000029" "g.114434205C>T" "" "" "" "GRK1(NM_002929.3):c.1083C>T (p.P361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113731232C>T" "" "likely benign" ""
"0000549883" "0" "30" "13" "114434325" "114434325" "subst" "2.91932E-5" "02330" "GRK1_000030" "g.114434325C>T" "" "" "" "GRK1(NM_002929.3):c.1194+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113731352C>T" "" "likely benign" ""
"0000549884" "0" "50" "13" "114435881" "114435881" "subst" "3.63975E-5" "01943" "GRK1_000031" "g.114435881C>T" "" "" "" "GRK1(NM_002929.3):c.1219C>T (p.R407W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113732908C>T" "" "VUS" ""
"0000549885" "0" "50" "13" "114435882" "114435882" "subst" "0.00160158" "01943" "GRK1_000032" "g.114435882G>A" "" "" "" "GRK1(NM_002929.3):c.1220G>A (p.R407Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113732909G>A" "" "VUS" ""
"0000549886" "0" "50" "13" "114435984" "114435984" "subst" "7.27474E-6" "01943" "GRK1_000033" "g.114435984T>G" "" "" "" "GRK1(NM_002929.3):c.1322T>G (p.F441C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113733011T>G" "" "VUS" ""
"0000549887" "0" "70" "13" "114438039" "114438039" "subst" "0" "02327" "GRK1_000034" "g.114438039A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113735066A>G" "" "likely pathogenic" ""
"0000614507" "0" "50" "13" "114322300" "114322300" "subst" "0" "01943" "GRK1_000035" "g.114322300G>C" "" "" "" "GRK1(NM_002929.3):c.599G>C (p.G200A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113667985G>C" "" "VUS" ""
"0000623026" "0" "30" "13" "114322316" "114322316" "subst" "8.35331E-5" "02330" "GRK1_000036" "g.114322316G>C" "" "" "" "GRK1(NM_002929.3):c.615G>C (p.S205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113668001G>C" "" "likely benign" ""
"0000623027" "0" "30" "13" "114434220" "114434220" "subst" "0.000473361" "02330" "GRK1_000037" "g.114434220C>G" "" "" "" "GRK1(NM_002929.3):c.1098C>G (p.G366=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113731247C>G" "" "likely benign" ""
"0000657250" "0" "50" "13" "114322165" "114322165" "subst" "1.89577E-5" "01943" "GRK1_000038" "g.114322165C>T" "" "" "" "GRK1(NM_002929.3):c.464C>T (p.A155V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113667850C>T" "" "VUS" ""
"0000657251" "0" "30" "13" "114438218" "114438218" "subst" "3.6389E-5" "01943" "GRK1_000039" "g.114438218C>T" "" "" "" "GRK1(NM_002929.3):c.1574C>T (p.T525M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113735245C>T" "" "likely benign" ""
"0000679729" "0" "50" "13" "114321978" "114321978" "subst" "8.53021E-5" "01943" "GRK1_000040" "g.114321978G>A" "" "" "" "GRK1(NM_002929.3):c.277G>A (p.E93K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000714045" "3" "70" "13" "114321843" "114321846" "del" "0" "00000" "GRK1_000041" "g.114321843_114321846del" "" "{PMID:Taylor 2017:28341476}" "" "142_145delGAGT" "" "Germline" "" "" "0" "" "" "g.113667528_113667531del" "" "likely pathogenic (recessive)" ""
"0000724369" "0" "50" "13" "114325879" "114325879" "subst" "0.000159097" "02330" "GRK1_000042" "g.114325879C>T" "" "" "" "GRK1(NM_002929.3):c.893C>T (p.T298M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000788384" "0" "50" "13" "114325896" "114325896" "subst" "2.48104E-5" "00000" "GRK1_000043" "g.114325896G>A" "" "{PMID:Katagiri 2014:25268133}" "" "G910A" "" "Germline" "" "" "0" "" "" "g.113671581G>A" "" "VUS" ""
"0000789683" "0" "90" "13" "114325855" "114325855" "subst" "0.000536362" "00000" "GRK1_000044" "g.114325855C>T" "" "{PMID:Jin 2008:18310263}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000789684" "0" "90" "13" "114436036" "114436036" "subst" "0" "00000" "GRK1_000045" "g.114436036T>C" "" "{PMID:Jin 2008:18310263}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000794025" "1" "70" "13" "114434247" "114434247" "subst" "0" "00000" "GRK1_000046" "g.114434247G>C" "" "{PMID:Godara-2012:22959359}" "" "c.1129G>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000794026" "2" "70" "13" "114434257" "114434257" "subst" "0" "00000" "GRK1_000047" "g.114434257T>A" "" "{PMID:Godara-2012:22959359}" "" "c.1139T>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000794027" "1" "70" "13" "114434247" "114434247" "subst" "0" "00000" "GRK1_000046" "g.114434247G>C" "" "{PMID:Godara-2012:22959359}" "" "c.1129G>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000794028" "2" "70" "13" "114434257" "114434257" "subst" "0" "00000" "GRK1_000047" "g.114434257T>A" "" "{PMID:Godara-2012:22959359}" "" "c.1139T>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000797669" "3" "70" "13" "114436046" "114436046" "subst" "0" "00000" "GRK1_000049" "g.114436046C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "GRK1 c.1384C>T, p.(Gln462*), c.1384C>T, p.(Gln462*), TRPM1 c.215A>G, p.(Tyr72Cys), c.215A>G, p.(Tyr72Cys)" "homozygous" "Germline" "?" "" "0" "" "" "g.113733073C>T" "" "likely pathogenic" "ACMG"
"0000798421" "3" "50" "13" "114322315" "114322315" "subst" "0" "00000" "GRK1_000048" "g.114322315C>A" "" "{PMID:Azam-2011:21987686}" "" "c.614C>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000806032" "0" "10" "13" "114321685" "114321685" "subst" "0.00156552" "02330" "GRK1_000050" "g.114321685G>A" "" "" "" "GRK1(NM_002929.3):c.-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000806033" "0" "10" "13" "114321991" "114321991" "subst" "0.00143804" "02330" "GRK1_000051" "g.114321991C>T" "" "" "" "GRK1(NM_002929.3):c.290C>T (p.T97M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000806034" "0" "30" "13" "114434253" "114434253" "subst" "4.3663E-5" "01943" "GRK1_000052" "g.114434253C>T" "" "" "" "GRK1(NM_002929.3):c.1131C>T (p.A377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000806035" "0" "50" "13" "114438091" "114438091" "subst" "0.000706359" "01943" "GRK1_000053" "g.114438091G>T" "" "" "" "GRK1(NM_002929.3):c.1447G>T (p.D483Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000806036" "0" "50" "13" "114438193" "114438193" "subst" "1.45529E-5" "01943" "GRK1_000054" "g.114438193C>T" "" "" "" "GRK1(NM_002929.3):c.1549C>T (p.P517S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000806037" "0" "30" "13" "114438285" "114438285" "subst" "7.42699E-6" "01943" "GRK1_000055" "g.114438285C>T" "" "" "" "GRK1(NM_002929.3):c.1641C>T (p.I547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000828835" "0" "90" "13" "114436000" "114436000" "subst" "4.36611E-5" "00000" "GRK1_000056" "g.114436000C>A" "" "{PMID:Chen 2021:43360855}" "" "GRK1 c.[1338C>A];[?], V1: c.1338C>A, (p.Cys446Ter)" "single heterozygous variant in a recessive disease: a variant on the other allele is expected but not yet identified" "Unknown" "?" "" "0" "" "" "g.113733027C>A" "" "pathogenic" "ACMG"
"0000853582" "0" "50" "13" "114322338" "114322338" "subst" "0.000250618" "01943" "GRK1_000059" "g.114322338G>A" "" "" "" "GRK1(NM_002929.3):c.637G>A (p.G213S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000853583" "0" "50" "13" "114325863" "114325863" "subst" "0" "01943" "GRK1_000060" "g.114325863C>T" "" "" "" "GRK1(NM_002929.3):c.877C>T (p.R293C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000863229" "0" "30" "13" "114322140" "114322140" "subst" "0" "01943" "GRK1_000057" "g.114322140C>T" "" "" "" "GRK1(NM_002929.3):c.439C>T (p.Q147*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000863230" "0" "30" "13" "114322172" "114322172" "subst" "0" "01943" "GRK1_000058" "g.114322172G>A" "" "" "" "GRK1(NM_002929.3):c.471G>A (p.L157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000863231" "0" "50" "13" "114434306" "114434306" "subst" "0.000247683" "01943" "GRK1_000061" "g.114434306G>A" "" "" "" "GRK1(NM_002929.3):c.1184G>A (p.R395H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000872698" "3" "70" "13" "114322171" "114322171" "subst" "0" "00000" "GRK1_000062" "g.114322171T>C" "" "{PMID:Mucciolo 2018:28511019}" "" "GRK1" "homozygous" "Germline" "yes" "" "0" "" "" "g.113667856T>C" "" "likely pathogenic (recessive)" ""
"0000872699" "3" "70" "13" "114325909" "114325909" "subst" "0" "00000" "GRK1_000063" "g.114325909T>C" "" "{PMID:Teke 2016:27511724}" "" "GRK1 c.923T>C, Leu308Pro" "homozygous; also SAG c.1207G>A heterozygote (rs1046974 Val403Ile)" "Germline" "yes" "" "0" "" "" "g.113671594T>C" "" "likely pathogenic (recessive)" ""
"0000872700" "3" "70" "13" "114325909" "114325909" "subst" "0" "00000" "GRK1_000063" "g.114325909T>C" "" "{PMID:Teke 2016:27511724}" "" "GRK1 c.923T>C, Leu308Pro" "homozygous; also SAG c.1207G>A, c.181+82A>G, c.436-18G>C homozygote" "Germline" "yes" "" "0" "" "" "g.113671594T>C" "" "likely pathogenic (recessive)" ""
"0000872701" "3" "70" "13" "114325909" "114325909" "subst" "0" "00000" "GRK1_000063" "g.114325909T>C" "" "{PMID:Teke 2016:27511724}" "" "GRK1 c.923T>C, Leu308Pro" "homozygous; also SAG c.1207G>A homozygote (rs1046974 Val403Ile)" "Germline" "yes" "" "0" "" "" "g.113671594T>C" "" "likely pathogenic (recessive)" ""
"0000872702" "3" "70" "13" "114325909" "114325909" "subst" "0" "00000" "GRK1_000063" "g.114325909T>C" "" "{PMID:Teke 2016:27511724}" "" "GRK1 c.923T>C, Leu308Pro" "homozygous; also SAG c.1207G>A heterozygote (rs1046974 Val403Ile)" "Germline" "yes" "" "0" "" "" "g.113671594T>C" "" "likely pathogenic (recessive)" ""
"0000872703" "3" "70" "13" "114438254" "114438257" "del" "0" "00000" "GRK1_000064" "g.114438254_114438257del" "" "{PMID:Skorczyk-Werner 2015:26349155}" "" "GRK1 c.1607_1610delCGGA (p.Asp537Valfs*542)" "homozygous; error in annotation, HGVS rules switch it from 1607_1610 to 1610_1613; no segregation possible, so a bigger deletion on the other allele cannot be excluded" "Unknown" "?" "" "0" "" "" "g.113735281_113735284del" "" "likely pathogenic (recessive)" ""
"0000872847" "3" "70" "13" "114322315" "114322315" "subst" "0" "00000" "GRK1_000048" "g.114322315C>A" "" "{PMID:Azam 2009:19753316}" "" "GRK1 c.614C>A; p.S205X" "homozygous" "Germline" "yes" "" "0" "" "" "g.113668000C>A" "" "likely pathogenic (recessive)" ""
"0000872848" "3" "70" "13" "114322315" "114322315" "subst" "0" "00000" "GRK1_000048" "g.114322315C>A" "" "{PMID:Azam 2009:19753316}" "" "GRK1 c.614C>A; p.S205X" "homozygous" "Germline" "yes" "" "0" "" "" "g.113668000C>A" "" "likely pathogenic (recessive)" ""
"0000872849" "3" "70" "13" "114322315" "114322315" "subst" "0" "00000" "GRK1_000048" "g.114322315C>A" "" "{PMID:Azam 2009:19753316}" "" "GRK1 c.614C>A; p.S205X" "homozygous" "Germline" "yes" "" "0" "" "" "g.113668000C>A" "" "likely pathogenic (recessive)" ""
"0000872850" "3" "70" "13" "114322315" "114322315" "subst" "0" "00000" "GRK1_000048" "g.114322315C>A" "" "{PMID:Azam 2009:19753316}" "" "GRK1 c.614C>A; p.S205X" "homozygous" "Germline" "yes" "" "0" "" "" "g.113668000C>A" "" "likely pathogenic (recessive)" ""
"0000872851" "3" "70" "13" "114322315" "114322315" "subst" "0" "00000" "GRK1_000048" "g.114322315C>A" "" "{PMID:Azam 2009:19753316}" "" "GRK1 c.614C>A; p.S205X" "homozygous" "Germline" "yes" "" "0" "" "" "g.113668000C>A" "" "likely pathogenic (recessive)" ""
"0000872852" "3" "70" "13" "114322315" "114322315" "subst" "0" "00000" "GRK1_000048" "g.114322315C>A" "" "{PMID:Azam 2009:19753316}" "" "GRK1 c.614C>A; p.S205X" "homozygous" "Germline" "yes" "" "0" "" "" "g.113668000C>A" "" "likely pathogenic (recessive)" ""
"0000872853" "3" "70" "13" "114322315" "114322315" "subst" "0" "00000" "GRK1_000048" "g.114322315C>A" "" "{PMID:Azam 2009:19753316}" "" "GRK1 c.614C>A; p.S205X" "homozygous" "Germline" "yes" "" "0" "" "" "g.113668000C>A" "" "likely pathogenic (recessive)" ""
"0000872854" "3" "70" "13" "114322315" "114322315" "subst" "0" "00000" "GRK1_000048" "g.114322315C>A" "" "{PMID:Azam 2009:19753316}" "" "GRK1 c.614C>A; p.S205X" "homozygous" "Germline" "yes" "" "0" "" "" "g.113668000C>A" "" "likely pathogenic (recessive)" ""
"0000872874" "21" "70" "13" "114438254" "114438257" "del" "0" "00000" "GRK1_000064" "g.114438254_114438257del" "0/188 control alleles" "{PMID:Yamamoto 1997:9020843}" "" "GRK1 Ser536(4-bp del)" "heterozygous; obsolete annotation, extrapolated from protein, sequence and databases" "Germline" "yes" "" "0" "" "" "g.113735281_113735284del" "" "likely pathogenic (recessive)" ""
"0000872875" "21" "70" "13" "114438254" "114438257" "del" "0" "00000" "GRK1_000064" "g.114438254_114438257del" "0/188 control alleles" "{PMID:Yamamoto 1997:9020843}" "" "GRK1 Ser536(4-bp del)" "heterozygous; obsolete annotation, extrapolated from protein, sequence and databases" "Germline" "yes" "" "0" "" "" "g.113735281_113735284del" "" "likely pathogenic (recessive)" ""
"0000872876" "3" "70" "13" "0" "0" "" "0" "00000" "BRCA2_000000" "g.?" "0/188 control alleles" "{PMID:Yamamoto 1997:9020843}" "" "GRK1 deletion of exon 5, 5\' breakpoint is within a tandemly repeated 63-bp sequence" "homozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic (recessive)" ""
"0000872877" "3" "70" "13" "0" "0" "" "0" "00000" "BRCA2_000000" "g.?" "0/188 control alleles" "{PMID:Yamamoto 1997:9020843}" "" "GRK1 deletion of exon 5, 5\' breakpoint is within a tandemly repeated 63-bp sequence" "homozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic (recessive)" ""
"0000872878" "11" "70" "13" "114434261" "114434261" "subst" "1.45567E-5" "00000" "GRK1_000047" "g.114434261T>A" "0/188 control alleles" "{PMID:Yamamoto 1997:9020843}" "" "GRK1 Val380Asp" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Germline" "yes" "" "0" "" "" "g.113731288T>A" "" "likely pathogenic (recessive)" ""
"0000872879" "11" "70" "13" "114434261" "114434261" "subst" "1.45567E-5" "00000" "GRK1_000047" "g.114434261T>A" "0/188 control alleles" "{PMID:Yamamoto 1997:9020843}" "" "GRK1 Val380Asp" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Germline" "yes" "" "0" "" "" "g.113731288T>A" "" "likely pathogenic (recessive)" ""
"0000872881" "0" "30" "13" "114322107" "114322107" "subst" "0.000153267" "00000" "GRK1_000066" "g.114322107G>C" "" "{PMID:Yamamoto 1997:9268593}" "" "GRK1 GAG/CAG, Glu136Gln" "heterozygous - no segregation; no nucleotide annotation, extrapolated from sequence and protein and databases" "Germline" "no" "" "0" "" "" "g.113667792G>C" "" "likely benign" ""
"0000872882" "0" "30" "13" "114325879" "114325879" "subst" "0.000159097" "00000" "GRK1_000042" "g.114325879C>T" "" "{PMID:Yamamoto 1997:9268593}" "" "GRK1 ACG/ATG, Thr298Met" "heterozygous - no segregation; no nucleotide annotation, extrapolated from sequence and protein and databases" "Germline" "no" "" "0" "" "" "g.113671564C>T" "" "likely benign" ""
"0000872883" "0" "30" "13" "114426050" "114426050" "subst" "2.18802E-5" "00000" "GRK1_000068" "g.114426050A>G" "" "{PMID:Yamamoto 1997:9268593}" "" "GRK1 AAT/AGT, Asn330Ser" "heterozygous - no segregation; no nucleotide annotation, extrapolated from sequence and protein and databases" "Germline" "no" "" "0" "" "" "g.113723077A>G" "" "likely benign" ""
"0000872884" "0" "30" "13" "114435975" "114435975" "subst" "2.18242E-5" "00000" "GRK1_000070" "g.114435975G>A" "" "{PMID:Yamamoto 1997:9268593}" "" "GRK1 CGC/CAC, Arg438His" "heterozygous - no segregation; no nucleotide annotation, extrapolated from sequence and protein and databases" "Germline" "no" "" "0" "" "" "g.113733002G>A" "" "likely benign" ""
"0000872885" "0" "30" "13" "114438185" "114438185" "subst" "8.00408E-5" "00000" "GRK1_000072" "g.114438185G>C" "" "{PMID:Yamamoto 1997:9268593}" "" "GRK1 TGC/TCC, Cys514Ser" "heterozygous - no segregation; no nucleotide annotation, extrapolated from sequence and protein and databases" "Germline" "no" "" "0" "" "" "g.113735212G>C" "" "likely benign" ""
"0000872886" "0" "30" "13" "114438209" "114438209" "subst" "0.000669412" "00000" "GRK1_000073" "g.114438209T>C" "" "{PMID:Yamamoto 1997:9268593}" "" "GRK1 ATG/ACG, Met522Thr" "heterozygous - no segregation; no nucleotide annotation, extrapolated from sequence and protein and databases" "Germline" "no" "" "0" "" "" "g.113735236T>C" "" "likely benign" ""
"0000872887" "0" "30" "13" "114438251" "114438251" "subst" "0.000678179" "00000" "GRK1_000074" "g.114438251C>T" "" "{PMID:Yamamoto 1997:9268593}" "" "GRK1 TCG/TTG, Ser536Leu" "heterozygous - no segregation; no nucleotide annotation, extrapolated from sequence and protein and databases" "Germline" "no" "" "0" "" "" "g.113735278C>T" "" "likely benign" ""
"0000872888" "0" "30" "13" "114322056" "114322056" "del" "0" "00000" "GRK1_000065" "g.114322056del" "" "{PMID:Yamamoto 1997:9268593}" "" "GRK1 Ala119(1-bp del)" "heterozygous - no segregation; no nucleotide annotation, extrapolated from sequence and protein and databases (only probable location given)" "Germline" "no" "" "0" "" "" "g.113667741del" "" "likely benign" ""
"0000872893" "3" "70" "13" "114324752" "114325869" "del" "0" "00000" "GRK1_000002" "g.114324752_114325869del" "" "{PMID:Zhang 2005:16319817}" "" "GRK1 c.827+623_883del" "homozygous" "Germline" "yes" "" "0" "" "" "g.113670437_113671554del" "" "likely pathogenic (recessive)" ""
"0000872894" "3" "70" "13" "114324752" "114325869" "del" "0" "00000" "GRK1_000002" "g.114324752_114325869del" "" "{PMID:Zhang 2005:16319817}" "" "GRK1 c.827+623_883del" "homozygous" "Germline" "yes" "" "0" "" "" "g.113670437_113671554del" "" "likely pathogenic (recessive)" ""
"0000872895" "3" "70" "13" "114324752" "114325869" "del" "0" "00000" "GRK1_000002" "g.114324752_114325869del" "" "{PMID:Zhang 2005:16319817}" "" "GRK1 c.827+623_883del" "homozygous" "Germline" "yes" "" "0" "" "" "g.113670437_113671554del" "" "likely pathogenic (recessive)" ""
"0000872915" "3" "70" "13" "114434294" "114434294" "subst" "7.27972E-6" "00000" "GRK1_000069" "g.114434294C>A" "" "{PMID:Hayashi 2007:17070587}" "" "GRK1 c.1172C A, p.P391H" "homozygous" "Germline" "yes" "" "0" "" "" "g.113731321C>A" "" "likely pathogenic (recessive)" ""
"0000872916" "3" "70" "13" "114434294" "114434294" "subst" "7.27972E-6" "00000" "GRK1_000069" "g.114434294C>A" "" "{PMID:Hayashi 2007:17070587}" "" "GRK1 c.1172C A, p.P391H" "homozygous" "Germline" "yes" "" "0" "" "" "g.113731321C>A" "" "likely pathogenic (recessive)" ""
"0000872940" "3" "70" "13" "114325957" "114325957" "del" "0" "00000" "GRK1_000067" "g.114325957del" "" "{PMID:Oishi 2007:17765441}" "" "GRK1 c.1079delT" "error in annotation: sequence analysis reveals that it\'s actually c.971del; homozygous" "Germline" "yes" "" "0" "" "" "g.113671642del" "" "likely pathogenic (recessive)" ""
"0000872941" "3" "70" "13" "114438055" "114438056" "del" "0" "00000" "GRK1_000071" "g.114438055_114438056del" "" "{PMID:Oishi 2007:17765441}" "" "GRK1 c.1408-1412 CCCCC to CCC" "error in annotation: sequence analysis reveals that it\'s actually c.1411_1412del; homozygous" "Germline" "yes" "" "0" "" "" "g.113735082_113735083del" "" "likely pathogenic (recessive)" ""
"0000890893" "0" "10" "13" "114321861" "114321861" "subst" "0.00151611" "02330" "GRK1_000021" "g.114321861C>T" "" "" "" "GRK1(NM_002929.3):c.160C>T (p.L54F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000896696" "0" "90" "13" "114436000" "114436000" "subst" "4.36611E-5" "00000" "GRK1_000056" "g.114436000C>A" "Taiwan Biobank: 0.000659; GnomAD_exome_East: 0.000565; GnomAD_All: 0.0000493" "{PMID:Chen 2021:33608557}" "" "GRK1 c.[1338C>A];[?]; p.(Cys446Ter)" "heterozygous; single variant in a recessive gene, no second allele found" "Germline" "yes" "" "0" "" "" "g.113733027C>A" "" "pathogenic" ""
"0000916201" "1" "50" "13" "114321852" "114321852" "subst" "0.000252225" "04436" "GRK1_000075" "g.114321852C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.151C>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000916202" "2" "50" "13" "114438087" "114438087" "subst" "0" "04436" "GRK1_000053" "g.114438087G>T" "" "{PMID:Panneman 2023:36819107}" "" "c.1447G>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000950059" "0" "30" "13" "114434205" "114434205" "subst" "0.00123169" "02330" "GRK1_000029" "g.114434205C>T" "" "" "" "GRK1(NM_002929.3):c.1083C>T (p.P361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000950060" "0" "30" "13" "114435882" "114435882" "subst" "0.00160158" "02330" "GRK1_000032" "g.114435882G>A" "" "" "" "GRK1(NM_002929.3):c.1220G>A (p.R407Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000958252" "3" "70" "13" "114317313" "114325241" "del" "0" "00006" "GRK1_000020" "g.114317313_114325241del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000959332" "0" "50" "13" "114435975" "114435975" "subst" "2.18242E-5" "00006" "GRK1_000070" "g.114435975G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5_SUPPORTING, BP6" "Germline" "" "" "0" "" "" "g.113733002G>A" "" "VUS" "ACMG"
"0000967160" "0" "30" "13" "114435838" "114435838" "subst" "0.000134612" "02330" "GRK1_000076" "g.114435838G>T" "" "" "" "GRK1(NM_002929.3):c.1195-19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001026260" "0" "30" "13" "114438219" "114438219" "subst" "0.000633225" "02330" "GRK1_000077" "g.114438219G>A" "" "" "" "GRK1(NM_002929.3):c.1575G>A (p.T525=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## 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 GRK1
## Count = 106
"{{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}}"
"0000158320" "00024221" "90" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Arg19*)" "1"
"0000158325" "00024221" "90" "827" "623" "883" "0" "c.827+623_883del" "r.spl" "p.?" "2i_3"
"0000248664" "00024221" "10" "588" "0" "588" "0" "c.588=" "r.(=)" "p.(Leu196=)" ""
"0000255281" "00024221" "30" "699" "7" "699" "7" "c.699+7A>G" "r.(=)" "p.(=)" ""
"0000256376" "00024221" "50" "842" "0" "842" "0" "c.842A>G" "r.(?)" "p.(Asn281Ser)" ""
"0000277483" "00024221" "10" "1069" "14" "1069" "14" "c.1069+14C>T" "r.(=)" "p.(=)" ""
"0000277484" "00024221" "10" "1236" "0" "1236" "0" "c.1236C>T" "r.(?)" "p.(=)" ""
"0000277485" "00024221" "10" "1392" "0" "1392" "0" "c.1392G>A" "r.(?)" "p.(=)" ""
"0000277486" "00024221" "30" "1477" "0" "1477" "0" "c.1477G>A" "r.(?)" "p.(Val493Ile)" ""
"0000277487" "00024221" "10" "162" "0" "162" "0" "c.162C>T" "r.(?)" "p.(Leu54=)" ""
"0000277488" "00024221" "30" "1608" "0" "1608" "0" "c.1608G>A" "r.(?)" "p.(=)" ""
"0000277489" "00024221" "50" "1623" "0" "1623" "0" "c.1623G>A" "r.(?)" "p.(=)" ""
"0000277490" "00024221" "50" "326" "0" "326" "0" "c.326C>T" "r.(?)" "p.(Thr109Ile)" ""
"0000277491" "00024221" "50" "511" "0" "511" "0" "c.511T>C" "r.(?)" "p.(Phe171Leu)" ""
"0000277492" "00024221" "10" "10" "0" "10" "0" "c.10G>A" "r.(?)" "p.(Gly4Arg)" ""
"0000277493" "00024221" "30" "870" "0" "870" "0" "c.870G>A" "r.(?)" "p.(Pro290=)" ""
"0000288796" "00024221" "50" "1339" "0" "1339" "0" "c.1339G>A" "r.(?)" "p.(Asp447Asn)" ""
"0000288797" "00024221" "30" "162" "0" "162" "0" "c.162C>T" "r.(?)" "p.(Leu54=)" ""
"0000288798" "00024221" "30" "693" "0" "693" "0" "c.693C>T" "r.(?)" "p.(Gly231=)" ""
"0000484100" "00024221" "90" "-108" "-4158" "828" "-574" "c.-108-4158_828-574del" "r.(?)" "p.?" ""
"0000549874" "00024221" "30" "160" "0" "160" "0" "c.160C>T" "r.(?)" "p.(Leu54Phe)" ""
"0000549875" "00024221" "50" "570" "0" "570" "0" "c.570C>A" "r.(?)" "p.(Phe190Leu)" ""
"0000549876" "00024221" "10" "699" "16" "699" "16" "c.699+16C>T" "r.(=)" "p.(=)" ""
"0000549877" "00024221" "10" "700" "-5" "700" "-5" "c.700-5T>C" "r.spl?" "p.?" ""
"0000549878" "00024221" "50" "784" "0" "784" "0" "c.784G>A" "r.(?)" "p.(Asp262Asn)" ""
"0000549881" "00024221" "10" "1069" "7" "1069" "7" "c.1069+7G>A" "r.(=)" "p.(=)" ""
"0000549882" "00024221" "30" "1083" "0" "1083" "0" "c.1083C>T" "r.(?)" "p.(=)" ""
"0000549883" "00024221" "30" "1194" "9" "1194" "9" "c.1194+9C>T" "r.(=)" "p.(=)" ""
"0000549884" "00024221" "50" "1219" "0" "1219" "0" "c.1219C>T" "r.(?)" "p.(Arg407Trp)" ""
"0000549885" "00024221" "50" "1220" "0" "1220" "0" "c.1220G>A" "r.(?)" "p.(Arg407Gln)" ""
"0000549886" "00024221" "50" "1322" "0" "1322" "0" "c.1322T>G" "r.(?)" "p.(Phe441Cys)" ""
"0000549887" "00024221" "70" "1397" "-2" "1397" "-2" "c.1397-2A>G" "r.spl?" "p.?" ""
"0000614507" "00024221" "50" "599" "0" "599" "0" "c.599G>C" "r.(?)" "p.(Gly200Ala)" ""
"0000623026" "00024221" "30" "615" "0" "615" "0" "c.615G>C" "r.(?)" "p.(Ser205=)" ""
"0000623027" "00024221" "30" "1098" "0" "1098" "0" "c.1098C>G" "r.(?)" "p.(=)" ""
"0000657250" "00024221" "50" "464" "0" "464" "0" "c.464C>T" "r.(?)" "p.(Ala155Val)" ""
"0000657251" "00024221" "30" "1574" "0" "1574" "0" "c.1574C>T" "r.(?)" "p.(Thr525Met)" ""
"0000679729" "00024221" "50" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Glu93Lys)" ""
"0000714045" "00024221" "70" "142" "0" "145" "0" "c.142_145del" "r.(?)" "p.(Glu48Profs*82)" ""
"0000724369" "00024221" "50" "893" "0" "893" "0" "c.893C>T" "r.(?)" "p.(Thr298Met)" ""
"0000788384" "00024221" "50" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Gly304Ser)" "3"
"0000789683" "00024221" "90" "869" "0" "869" "0" "c.869C>T" "r.(?)" "p.(Pro290Leu)" "0"
"0000789684" "00024221" "90" "1378" "0" "1378" "0" "c.1378T>C" "r.(?)" "p.(Trp460Arg)" "0"
"0000794025" "00024221" "70" "1129" "0" "1129" "0" "c.1129G>C" "r.(?)" "p.(Ala377Pro)" "0"
"0000794026" "00024221" "70" "1139" "0" "1139" "0" "c.1139T>A" "r.(?)" "p.(Val380Asp)" "0"
"0000794027" "00024221" "70" "1129" "0" "1129" "0" "c.1129G>C" "r.(?)" "p.(Ala377Pro)" "0"
"0000794028" "00024221" "70" "1139" "0" "1139" "0" "c.1139T>A" "r.(?)" "p.(Val380Asp)" "0"
"0000797669" "00024221" "70" "1384" "0" "1384" "0" "c.1384C>T" "r.(?)" "p.(Gln462*)" ""
"0000798421" "00024221" "50" "614" "0" "614" "0" "c.614C>A" "r.(?)" "p.(Ser205*)" "0"
"0000806032" "00024221" "10" "-17" "0" "-17" "0" "c.-17G>A" "r.(?)" "p.(=)" ""
"0000806033" "00024221" "10" "290" "0" "290" "0" "c.290C>T" "r.(?)" "p.(Thr97Met)" ""
"0000806034" "00024221" "30" "1131" "0" "1131" "0" "c.1131C>T" "r.(?)" "p.(=)" ""
"0000806035" "00024221" "50" "1447" "0" "1447" "0" "c.1447G>T" "r.(?)" "p.(Asp483Tyr)" ""
"0000806036" "00024221" "50" "1549" "0" "1549" "0" "c.1549C>T" "r.(?)" "p.(Pro517Ser)" ""
"0000806037" "00024221" "30" "1641" "0" "1641" "0" "c.1641C>T" "r.(?)" "p.(=)" ""
"0000828835" "00024221" "90" "1338" "0" "1338" "0" "c.1338C>A" "r.(?)" "p.(Cys446*)" ""
"0000853582" "00024221" "50" "637" "0" "637" "0" "c.637G>A" "r.(?)" "p.(Gly213Ser)" ""
"0000853583" "00024221" "50" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293Cys)" ""
"0000863229" "00024221" "30" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Gln147*)" ""
"0000863230" "00024221" "30" "471" "0" "471" "0" "c.471G>A" "r.(?)" "p.(=)" ""
"0000863231" "00024221" "50" "1184" "0" "1184" "0" "c.1184G>A" "r.(?)" "p.(Arg395His)" ""
"0000872698" "00024221" "70" "470" "0" "470" "0" "c.470T>C" "r.(?)" "p.(Leu157Pro)" ""
"0000872699" "00024221" "70" "923" "0" "923" "0" "c.923T>C" "r.(?)" "p.(Leu308Pro)" ""
"0000872700" "00024221" "70" "923" "0" "923" "0" "c.923T>C" "r.(?)" "p.(Leu308Pro)" ""
"0000872701" "00024221" "70" "923" "0" "923" "0" "c.923T>C" "r.(?)" "p.(Leu308Pro)" ""
"0000872702" "00024221" "70" "923" "0" "923" "0" "c.923T>C" "r.(?)" "p.(Leu308Pro)" ""
"0000872703" "00024221" "70" "1610" "0" "1613" "0" "c.1610_1613del" "r.(?)" "p.(Asp537Valfs*7)" ""
"0000872847" "00024221" "70" "614" "0" "614" "0" "c.614C>A" "r.(?)" "p.(Ser205*)" ""
"0000872848" "00024221" "70" "614" "0" "614" "0" "c.614C>A" "r.(?)" "p.(Ser205*)" ""
"0000872849" "00024221" "70" "614" "0" "614" "0" "c.614C>A" "r.(?)" "p.(Ser205*)" ""
"0000872850" "00024221" "70" "614" "0" "614" "0" "c.614C>A" "r.(?)" "p.(Ser205*)" ""
"0000872851" "00024221" "70" "614" "0" "614" "0" "c.614C>A" "r.(?)" "p.(Ser205*)" ""
"0000872852" "00024221" "70" "614" "0" "614" "0" "c.614C>A" "r.(?)" "p.(Ser205*)" ""
"0000872853" "00024221" "70" "614" "0" "614" "0" "c.614C>A" "r.(?)" "p.(Ser205*)" ""
"0000872854" "00024221" "70" "614" "0" "614" "0" "c.614C>A" "r.(?)" "p.(Ser205*)" ""
"0000872874" "00024221" "70" "1610" "0" "1613" "0" "c.1610_1613del" "r.(?)" "p.(Asp537Valfs*7)" "7"
"0000872875" "00024221" "70" "1610" "0" "1613" "0" "c.1610_1613del" "r.(?)" "p.(Asp537Valfs*7)" "7"
"0000872876" "00024221" "70" "1070" "-1" "1194" "1" "c.(1069+1_1070-1)_(1194+1_1195-1)del" "r.(?)" "p.?" "_5_"
"0000872877" "00024221" "70" "1070" "-1" "1194" "1" "c.(1069+1_1070-1)_(1194+1_1195-1)del" "r.(?)" "p.?" "_5_"
"0000872878" "00024221" "70" "1139" "0" "1139" "0" "c.1139T>A" "r.(?)" "p.(Val380Asp)" "5"
"0000872879" "00024221" "70" "1139" "0" "1139" "0" "c.1139T>A" "r.(?)" "p.(Val380Asp)" "5"
"0000872881" "00024221" "30" "406" "0" "406" "0" "c.406G>C" "r.(?)" "p.(Glu136Gln)" ""
"0000872882" "00024221" "30" "893" "0" "893" "0" "c.893C>T" "r.(?)" "p.(Thr298Met)" ""
"0000872883" "00024221" "30" "989" "0" "989" "0" "c.989A>G" "r.(?)" "p.(Asn330Ser)" ""
"0000872884" "00024221" "30" "1313" "0" "1313" "0" "c.1313G>A" "r.(?)" "p.(Arg438His)" ""
"0000872885" "00024221" "30" "1541" "0" "1541" "0" "c.1541G>C" "r.(?)" "p.(Cys514Ser)" ""
"0000872886" "00024221" "30" "1565" "0" "1565" "0" "c.1565T>C" "r.(?)" "p.(Met522Thr)" ""
"0000872887" "00024221" "30" "1607" "0" "1607" "0" "c.1607C>T" "r.(?)" "p.(Ser536Leu)" ""
"0000872888" "00024221" "30" "355" "0" "355" "0" "c.355del" "r.(?)" "p.(Ala119Profs*12)" ""
"0000872893" "00024221" "70" "827" "623" "883" "0" "c.827+623_883del" "r.(?)" "p.?" ""
"0000872894" "00024221" "70" "827" "623" "883" "0" "c.827+623_883del" "r.(?)" "p.?" ""
"0000872895" "00024221" "70" "827" "623" "883" "0" "c.827+623_883del" "r.(?)" "p.?" ""
"0000872915" "00024221" "70" "1172" "0" "1172" "0" "c.1172C>A" "r.(?)" "p.(Pro391His)" ""
"0000872916" "00024221" "70" "1172" "0" "1172" "0" "c.1172C>A" "r.(?)" "p.(Pro391His)" ""
"0000872940" "00024221" "70" "971" "0" "971" "0" "c.971del" "r.(?)" "p.(Leu324Argfs*62)" ""
"0000872941" "00024221" "70" "1411" "0" "1412" "0" "c.1411_1412del" "r.(?)" "p.(Pro471Phefs*28)" ""
"0000890893" "00024221" "10" "160" "0" "160" "0" "c.160C>T" "r.(?)" "p.(Leu54Phe)" ""
"0000896696" "00024221" "90" "1338" "0" "1338" "0" "c.1338C>A" "r.(?)" "p.(Cys446Ter)" ""
"0000916201" "00024221" "50" "151" "0" "151" "0" "c.151C>T" "r.(?)" "p.(Arg51Cys)" "0"
"0000916202" "00024221" "50" "1447" "0" "1447" "0" "c.1447G>T" "r.(?)" "p.(Asp483Tyr)" "0"
"0000950059" "00024221" "30" "1083" "0" "1083" "0" "c.1083C>T" "r.(?)" "p.(=)" ""
"0000950060" "00024221" "30" "1220" "0" "1220" "0" "c.1220G>A" "r.(?)" "p.(Arg407Gln)" ""
"0000958252" "00024221" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000959332" "00024221" "50" "1313" "0" "1313" "0" "c.1313G>A" "r.(?)" "p.(Arg438His)" ""
"0000967160" "00024221" "30" "1195" "-19" "1195" "-19" "c.1195-19G>T" "r.(=)" "p.(=)" ""
"0001026260" "00024221" "30" "1575" "0" "1575" "0" "c.1575G>A" "r.(?)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 54
"{{screeningid}}" "{{variantid}}"
"0000096327" "0000158320"
"0000096332" "0000158325"
"0000240102" "0000484100"
"0000329688" "0000714045"
"0000376610" "0000788384"
"0000377366" "0000789683"
"0000377366" "0000789684"
"0000380827" "0000794025"
"0000380827" "0000794026"
"0000380828" "0000794027"
"0000380828" "0000794028"
"0000383523" "0000797669"
"0000384004" "0000798421"
"0000397089" "0000828835"
"0000414975" "0000872698"
"0000414976" "0000872699"
"0000414977" "0000872700"
"0000414978" "0000872701"
"0000414979" "0000872702"
"0000414980" "0000872703"
"0000415102" "0000872847"
"0000415103" "0000872848"
"0000415104" "0000872849"
"0000415105" "0000872850"
"0000415106" "0000872851"
"0000415107" "0000872852"
"0000415108" "0000872853"
"0000415109" "0000872854"
"0000415123" "0000872874"
"0000415123" "0000872878"
"0000415124" "0000872875"
"0000415124" "0000872879"
"0000415125" "0000872876"
"0000415126" "0000872877"
"0000415127" "0000872881"
"0000415128" "0000872882"
"0000415129" "0000872883"
"0000415130" "0000872884"
"0000415131" "0000872885"
"0000415132" "0000872886"
"0000415133" "0000872887"
"0000415134" "0000872888"
"0000415139" "0000872893"
"0000415140" "0000872894"
"0000415141" "0000872895"
"0000415161" "0000872915"
"0000415162" "0000872916"
"0000415184" "0000872940"
"0000415185" "0000872941"
"0000421870" "0000896696"
"0000431189" "0000916201"
"0000431189" "0000916202"
"0000448766" "0000958252"
"0000449124" "0000959332"