### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RPGRIP1L) # 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}}" "RPGRIP1L" "RPGRIP1-like" "16" "q12.2" "unknown" "NC_000016.9" "UD_132118592579" "{PMID:Delous 2007:17558409}" "https://www.LOVD.nl/RPGRIP1L" "" "1" "29168" "23322" "610937" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.\r\nWe gratefully acknowledge the support of Juha Muilu acting as curator until 2015." "" "g" "http://databases.lovd.nl/shared/refseq/RPGRIP1L_NM_015272.2_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00002" "2012-02-13 00:00:00" "00006" "2023-11-28 15:38:07" "00000" "2025-11-01 13:22:20" ## 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}}" "00000083" "RPGRIP1L" "RPGRIP1-like, transcript variant 1" "002" "NM_015272.2" "" "NP_056087.2" "" "" "" "-64" "6118" "3948" "53737771" "53633818" "00002" "2012-05-11 13:12:02" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00002" "JBTS1" "Joubert syndrome, type 1 (JBTS1)" "AR" "213300" "" "" "" "00006" "2012-05-17 22:47:36" "00006" "2021-12-10 21:51:32" "00076" "COACH" "COACH syndrome" "AR" "216360" "" "" "" "00015" "2012-11-09 15:02:45" "00006" "2021-12-10 21:51:32" "00079" "MKS5" "Meckel syndrome, type 5" "AR" "611561" "" "" "" "00015" "2012-11-09 15:17:02" "00006" "2023-11-30 09:00:32" "00080" "JBTS7" "Joubert syndrome, type 7 (JBTS-7)" "AR" "611560" "" "" "" "00015" "2012-11-09 15:18:18" "00006" "2021-12-10 21:51:32" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05109" "JBTS" "Joubert syndrome (JBTS)" "" "" "" "" "" "00006" "2016-01-09 00:37:44" "" "" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05578" "MKS" "Meckel syndrome (MKS, Meckel-Gruber syndrome)" "" "" "" "" "" "00006" "2019-02-22 22:26:27" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06892" "NPHP" "nephronophthisis" "" "" "" "" "" "00006" "2022-01-23 12:29:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "RPGRIP1L" "00076" "RPGRIP1L" "00079" "RPGRIP1L" "00080" "RPGRIP1L" "00139" "RPGRIP1L" "05578" ## Individuals ## Do not remove or alter this header ## ## Count = 54 "{{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}}" "00000028" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00028920" "" "" "" "1" "" "01188" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "1-64 Pat9" "00028924" "" "" "" "1" "" "01188" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "1-52 Pat13" "00028947" "" "" "" "1" "" "01188" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "1-39 Pat17" "00033105" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033338" "" "" "" "1" "" "00010" "" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00291487" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291488" "" "" "" "32" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291489" "" "" "" "243" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304517" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00331556" "" "" "" "3" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 3 affected (2F, M)" "F;M" "yes" "" "" "0" "" "" "Arab" "10DG0650 , 10DG0651, 10DG0652" "00332196" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB38" "00332218" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB43" "00332225" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB40" "00358863" "" "" "" "1" "" "00000" "{PMID:Suzuki 2016:27434533}" "" "" "no" "Japan" "" "0" "" "" "" "Fam23" "00358868" "" "" "" "1" "" "00000" "{PMID:Suzuki 2016:27434533}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Japan" "" "0" "" "" "" "Fam30" "00372307" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW004-3" "00372308" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW004-4" "00372309" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW015-4" "00372310" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW042-3" "00372311" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW043-3" "00372312" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW227-3" "00372313" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW242-3" "00372314" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW299-3" "00372315" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW314-3" "00373384" "" "" "" "1" "" "00000" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "1-54" "00375425" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#019" "00377690" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 77" "M" "" "United States" "" "0" "" "" "" "360" "00377759" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00377760" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00377767" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "" "Germany" "" "0" "" "" "" "" "00377782" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "" "Poland" "" "0" "" "" "" "" "00377919" "" "" "" "1" "" "00000" "{PMID:Chaki 2011:21422230}" "two siblings 15y and 17 years" "" "" "" "" "0" "" "" "" "" "00379583" "" "" "" "3" "" "00000" "{PMID:alazami-2012:22693042}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00381159" "" "" "" "1" "" "00008" "{PMID:Nishiguchi-2013:24043777}" "" "F" "yes" "" "" "0" "" "" "Japanese" "" "00381163" "" "" "" "1" "" "00008" "{PMID:Nishiguchi-2013:24043777}" "" "F" "yes" "" "" "0" "" "" "Japanese" "" "00388076" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "360" "00399818" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "904" "00399819" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "597" "00408092" "" "" "" "1" "" "00000" "{PMID:Alabdullatif 2017:27717089}" "" "F" "yes" "United Arab Emirates" "" "0" "" "" "" "141" "00408797" "" "" "" "1" "" "00000" "{PMID:Alazami 2012:22693042}" "" "M" "yes" "" "" "0" "" "" "" "JS_F1" "00414705" "" "" "" "1" "" "00000" "{PMID:Bell 2011:21228398}" "" "?" "" "" "" "0" "" "" "" "NA01899" "00443511" "" "" "" "2" "" "00006" "{PMID:Delous 2007:17558409}" "family, 2 affected fetuses" "" "yes" "Morocco" "<00y00m00d" "0" "" "" "" "F1MKS03/107" "00443512" "" "" "00443511" "1" "" "00006" "{PMID:Delous 2007:17558409}" "2nd fetus" "" "yes" "Morocco" "<00y00m00d" "0" "" "" "" "F1MKS04/428" "00443513" "" "" "" "1" "" "00006" "{PMID:Delous 2007:17558409}" "fetus" "" "no" "France" "" "0" "" "" "" "F2MKS05/206" "00443514" "" "" "" "1" "" "00006" "{PMID:Delous 2007:17558409}" "" "" "" "France" "" "0" "" "" "" "F222-1" "00443516" "" "" "" "1" "" "00006" "{PMID:Delous 2007:17558409}" "" "" "" "France" "" "0" "" "" "" "F58-1" "00443517" "" "" "" "2" "" "00006" "{PMID:Delous 2007:17558409}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "F42-1" "00443518" "" "" "00443517" "1" "" "00006" "{PMID:Delous 2007:17558409}" "2nd affected" "" "" "France" "" "0" "" "" "" "F42-2" "00443519" "" "" "" "1" "" "00006" "{PMID:Delous 2007:17558409}" "" "" "" "Comoros" "" "0" "" "" "" "F491-1" "00443520" "" "" "" "1" "" "00006" "{PMID:Delous 2007:17558409}" "" "" "" "France" "" "0" "" "" "" "F126-1" "00447445" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "USHII-369" "00447612" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1205" "00454834" "" "" "" "1" "" "00006" "{PMID:Dekker 2023:36669495}" "fetus" "M" "no" "Netherlands" "" "0" "" "" "" "Pat8" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 53 "{{individualid}}" "{{diseaseid}}" "00028920" "00002" "00028924" "00002" "00028947" "00002" "00033105" "04214" "00033338" "00002" "00291487" "00198" "00291488" "00198" "00291489" "00198" "00304517" "00198" "00331556" "05517" "00332196" "04214" "00332218" "04214" "00332225" "04214" "00358863" "05109" "00358868" "05109" "00372307" "05109" "00372308" "05109" "00372309" "05109" "00372310" "05109" "00372311" "05109" "00372312" "05109" "00372313" "05109" "00372314" "05109" "00372315" "05109" "00373384" "04214" "00375425" "04214" "00377690" "04214" "00377759" "04214" "00377760" "04214" "00377767" "04214" "00377782" "04214" "00377919" "04214" "00379583" "04214" "00381159" "04214" "00381163" "04214" "00388076" "04214" "00399818" "06892" "00399819" "06892" "00408092" "04214" "00408797" "05109" "00414705" "04214" "00443511" "05578" "00443512" "05578" "00443513" "05578" "00443514" "05109" "00443516" "05109" "00443517" "05109" "00443518" "05109" "00443519" "05109" "00443520" "05109" "00447445" "00198" "00447612" "00198" "00454834" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00002, 00076, 00079, 00080, 00139, 00198, 04214, 05109, 05517, 05578, 05611, 06892 ## Count = 47 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000025016" "00002" "00028920" "01188" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025020" "00002" "00028924" "01188" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025022" "00002" "00028947" "01188" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026534" "04214" "00033105" "00229" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026767" "00002" "00033338" "00010" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000249748" "05517" "00331556" "00000" "Familial, autosomal recessive" "" "Global developmental delay, Polyhydramnios, Decreased fetal movement, Generalized hy Yes" "" "" "" "" "" "" "" "" "Polydactyly-Syndactyly-Triphalangism group" "skeletal dysplasia" "" "0000250383" "04214" "00332196" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000250405" "04214" "00332218" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000250412" "04214" "00332225" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiplex retinitis pigmentosa" "" "0000254121" "05109" "00358863" "00000" "Familial, autosomal recessive" "" "severe intellectual disability; severe developmental delay; hypotonia, ataxia, neonatal dysregulated breathing; no retina problems; no coloboma; kidney problems; no liver symptoms; encephalocele; no polydactyly" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000254126" "05109" "00358868" "00000" "Familial, autosomal recessive" "" "severe intellectual disability; severe developmental delay; hypotonia, ataxia; no retina problems; no coloboma; no kidney problems; liver symptoms; no encephalocele; no polydactyly" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267628" "05109" "00372307" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267629" "05109" "00372308" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267630" "05109" "00372309" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267631" "05109" "00372310" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267632" "05109" "00372311" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267633" "05109" "00372312" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267634" "05109" "00372313" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267635" "05109" "00372314" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267636" "05109" "00372315" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000268660" "04214" "00373384" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000270639" "04214" "00375425" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272842" "04214" "00377690" "00000" "Familial, autosomal recessive" "" "polydactyly, kidney disease, oculomotor apraxia, strabismus, ptosis, coloboma - retina, optic nerve" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272905" "04214" "00377759" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Meckel-Gruber syndrome, multicystic dysplastic kidneys" "" "0000272906" "04214" "00377760" "00000" "Familial" "" "polydactyly" "" "" "" "" "" "" "" "" "" "Meckel-Gruber syndrome, multicystic dysplastic kidneys" "" "0000272913" "04214" "00377767" "00000" "Familial" "" "mental retardation" "" "" "" "" "" "" "" "" "" "Joubert syndrome, Nephronophthisis" "" "0000272928" "04214" "00377782" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Nephronophthisis" "" "0000273065" "04214" "00377919" "00000" "Unknown" "" "mental retardation and oculomotor apraxia-type Cogan" "" "" "" "" "" "" "" "" "" "end-stage renal disease (ESRD)" "" "0000273437" "04214" "00379583" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JS)" "" "0000275010" "04214" "00381159" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (ARRP)" "" "0000275014" "04214" "00381163" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (ARRP)" "" "0000281670" "04214" "00388076" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000300220" "04214" "00408092" "00000" "Familial, autosomal recessive" "1y6m" "1.5 year old girl with uncomplicated perinatal course who was noticed to have abnormal eye movement at the age of 4 months and was diagnosed to have oculomotor apraxia. She also had developmental delay, hepatomegaly, and hypotonia. Parents were cousins and she has 4 healthy siblings." "" "" "" "" "" "" "" "" "COACH syndrome" "" "" "0000300916" "05109" "00408797" "00000" "Familial, autosomal recessive" "" "prominent forehead, no hemifacial spasms, strabismus, impaired smooth pursuit, oculomotor apraxia, upturned nose, anteverted nostrils, no hepatic ﬁbrosis, no renal cysts, no polydactyly, delayed psychomotor development, intellectual disability, ataxia, hypotonia, no occipital meningocele, typical magnetic resonance ﬁnd" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000306500" "04214" "00414705" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "Lesch-Nyhan syndrome" "" "" "0000332845" "05578" "00443511" "00006" "Familial, autosomal recessive" "<00y00m00d" "see paper; ..., 15gw-anencephaly phenotype, occipital encephalocele, cystic kidney dysplasia, bile duct proliferation, postaxial polydactyly (upper limbs), cleft lip, cleft palate, microphthalmia" "" "" "" "" "" "" "" "" "MKS5" "Meckel syndrome" "" "0000332846" "05578" "00443512" "00006" "Familial, autosomal recessive" "<00y00m00d" "see paper; ..., 15wg-anencephaly phenotype, occipital encephalocele, cystic kidney dysplasia, bile duct proliferation, postaxial polydactyly (upper limbs, lower limbs), cleft lip, cleft palate, microphthalmia, long bones bowing" "" "" "" "" "" "" "" "" "MKS5" "Meckel syndrome" "" "0000332847" "05578" "00443513" "00006" "Familial, autosomal recessive" "<00y00m00d" "see paper; ..., 15wg-anencephaly phenotype, occipital encephalocele, cystic kidney dysplasia, bile duct proliferation, postaxial polydactyly (upper limbs), cleft lip, cleft palate, microphthalmia, long bones bowing" "" "" "" "" "" "" "" "" "MKS5" "Meckel syndrome" "" "0000332848" "05109" "00443514" "00006" "Familial, autosomal recessive" "06y" "see paper; ..., 6y-end-stage renal disease, nephronophthisis, cerebellar ataxia, severe intellectual disability, oculomotor apraxia, ptosis, genu valgum" "" "" "" "" "" "" "" "" "JBTS7" "cerebello-oculo-renal syndrome" "" "0000332850" "05109" "00443516" "00006" "Familial, autosomal recessive" "07y" "see paper; ..., 7y-end-stage renal disease, nephronophthisis, cerebellar ataxia, severe intellectual disability, oculomotor apraxia, ptosis, molar tooth sign, scoliosis" "" "" "" "" "" "" "" "" "JBTS7" "cerebello-oculo-renal syndrome" "" "0000332851" "05109" "00443517" "00006" "Familial, autosomal recessive" "09y" "see paper; ..., 9y-end-stage renal disease, nephronophthisis, cerebellar ataxia, no intellectual disability, oculomotor apraxia, nystagmus, molar tooth sign, scoliosis" "" "" "" "" "" "" "" "" "JBTS7" "cerebello-oculo-renal syndrome" "" "0000332852" "05109" "00443518" "00006" "Familial, autosomal recessive" "08y" "see paper; ..., 8y-end-stage renal disease, nephronophthisis, cerebellar ataxia, moderate intellectual disability, oculomotor apraxia, nystagmus, molar tooth sign, scoliosis" "" "" "" "" "" "" "" "" "JBTS7" "cerebello-oculo-renal syndrome" "" "0000332853" "05109" "00443519" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., chronic renal insufficiency, cystic kidney disease, cerebellar ataxia, moderate intellectual disability, retinitis pigmentosa, no molar tooth sign, precocious puberty" "" "" "" "" "" "" "" "" "JBTS7" "cerebello-oculo-renal syndrome" "" "0000332854" "05109" "00443520" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., 18y-end-stage renal disease, nephronophthisis, cerebellar ataxia, moderate intellectual disability, oculomotor apraxia, ptosis, nystagmus, molar tooth sign, partial GH deficiency" "" "" "" "" "" "" "" "" "JBTS7" "cerebello-oculo-renal syndrome" "" "0000336644" "00198" "00447445" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000336811" "00198" "00447612" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000343444" "05611" "00454834" "00006" "Familial, autosomal recessive" "<0d" "see paper; ..., termination of pregnancy 15w0/7 encephalocele, hydronephrosis, polydactyly; MRI brain two atypical encephaloceles" "" "" "" "" "" "" "" "" "MKS5" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 54 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000028" "00000028" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000028951" "00028920" "1" "01188" "01188" "2015-01-05 14:45:20" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000028957" "00028924" "1" "01188" "01188" "2015-01-05 15:40:12" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000028981" "00028947" "1" "01188" "01188" "2015-01-06 09:06:13" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000033173" "00033105" "1" "00229" "00229" "2012-02-04 14:49:23" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033406" "00033338" "1" "00010" "00010" "2012-05-18 13:55:05" "00006" "2012-05-18 14:03:54" "SEQ" "DNA" "" "" "0000292655" "00291487" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292656" "00291488" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292657" "00291489" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305646" "00304517" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000332775" "00331556" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000333416" "00332196" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000333438" "00332218" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000333445" "00332225" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000360095" "00358863" "1" "00000" "00006" "2021-03-16 16:48:35" "00006" "2021-03-16 16:54:57" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000360100" "00358868" "1" "00000" "00006" "2021-03-16 16:48:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000373536" "00372307" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373537" "00372308" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373538" "00372309" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373539" "00372310" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373540" "00372311" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373541" "00372312" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373542" "00372313" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373543" "00372314" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373544" "00372315" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000374619" "00373384" "1" "00000" "00006" "2021-05-14 11:33:21" "" "" "SEQ-NG" "DNA" "" "22-gene panel" "0000376622" "00375425" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000378894" "00377690" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378963" "00377759" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378964" "00377760" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378971" "00377767" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000378986" "00377782" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000379123" "00377919" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000380782" "00379583" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382374" "00381159" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000382378" "00381163" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000389315" "00388076" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000401061" "00399818" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401062" "00399819" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000409347" "00408092" "1" "00000" "03840" "2022-04-13 19:19:00" "" "" "arraySNP;SEQ" "DNA" "" "" "0000410062" "00408797" "1" "00000" "03840" "2022-04-28 12:52:45" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000415986" "00414705" "1" "00000" "03840" "2022-08-02 11:28:48" "" "" "SEQ-NG" "DNA;RNA" "blood" "" "0000445003" "00443511" "1" "00006" "00006" "2023-11-28 15:56:01" "" "" "SEQ" "DNA" "" "" "0000445004" "00443512" "1" "00006" "00006" "2023-11-28 16:00:15" "" "" "SEQ" "DNA" "" "" "0000445005" "00443513" "1" "00006" "00006" "2023-11-28 16:02:44" "" "" "SEQ" "DNA" "" "" "0000445006" "00443514" "1" "00006" "00006" "2023-11-28 16:15:15" "" "" "SEQ" "DNA" "" "" "0000445008" "00443516" "1" "00006" "00006" "2023-11-28 16:35:18" "" "" "SEQ" "DNA" "" "" "0000445009" "00443517" "1" "00006" "00006" "2023-11-28 16:40:16" "" "" "SEQ" "DNA" "" "" "0000445010" "00443518" "1" "00006" "00006" "2023-11-28 16:43:58" "" "" "SEQ" "DNA" "" "" "0000445011" "00443519" "1" "00006" "00006" "2023-11-28 16:48:57" "" "" "SEQ" "DNA" "" "" "0000445012" "00443520" "1" "00006" "00006" "2023-11-28 17:03:21" "" "" "SEQ" "DNA" "" "" "0000449022" "00447445" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449189" "00447612" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000456445" "00454834" "1" "00006" "00006" "2024-09-28 10:13:26" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 61 "{{screeningid}}" "{{geneid}}" "0000000028" "ALG1" "0000000028" "AMPD1" "0000000028" "ATP7B" "0000000028" "BTD" "0000000028" "CBS" "0000000028" "CLN3" "0000000028" "CYP21A2" "0000000028" "FGG" "0000000028" "GALC" "0000000028" "GLB1" "0000000028" "JAK3" "0000000028" "NPHS1" "0000000028" "RAG2" "0000000028" "RPGRIP1L" "0000000028" "SERPINA1" "0000000028" "SLC26A2" "0000028951" "C5orf42" "0000028957" "INPP5E" "0000028981" "RPGRIP1L" "0000033173" "CACNA1F" "0000033173" "PROM1" "0000033173" "RP2" "0000033173" "RPGRIP1L" "0000033173" "SNRNP200" "0000033406" "RPGRIP1L" "0000332775" "RPGRIP1L" "0000360095" "RPGRIP1L" "0000360100" "RPGRIP1L" "0000360100" "TMEM67" "0000373536" "RPGRIP1L" "0000373537" "RPGRIP1L" "0000373538" "RPGRIP1L" "0000373539" "RPGRIP1L" "0000373540" "RPGRIP1L" "0000373541" "RPGRIP1L" "0000373542" "RPGRIP1L" "0000373543" "RPGRIP1L" "0000373544" "RPGRIP1L" "0000374619" "RPGRIP1L" "0000378894" "RPGRIP1L" "0000378963" "CEP290" "0000378964" "RPGRIP1L" "0000378971" "TMEM67" "0000378986" "CEP290" "0000379123" "RPGRIP1L" "0000380782" "RPGRIP1L" "0000382374" "USH2A" "0000382378" "RPGRIP1L" "0000389315" "RPGRIP1L" "0000409347" "RPGRIP1L" "0000410062" "RPGRIP1L" "0000415986" "HPRT1" "0000445003" "RPGRIP1L" "0000445004" "RPGRIP1L" "0000445005" "RPGRIP1L" "0000445006" "RPGRIP1L" "0000445008" "RPGRIP1L" "0000445009" "RPGRIP1L" "0000445010" "RPGRIP1L" "0000445011" "RPGRIP1L" "0000445012" "RPGRIP1L" ## 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 = 264 "{{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}}" "0000000642" "0" "50" "16" "53653005" "53653005" "subst" "0.00962811" "00002" "RPGRIP1L_000012" "g.53653005G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.53619093G>C" "" "VUS" "" "0000016598" "0" "90" "16" "53726113" "53726113" "subst" "0" "00015" "RPGRIP1L_000013" "g.53726113T>A" "" "" "" "R132X" "" "SUMMARY record" "" "rs121918201" "0" "" "" "g.53692201T>A" "" "pathogenic (recessive)" "" "0000016599" "0" "90" "16" "53705492" "53705492" "subst" "0" "00015" "RPGRIP1L_000004" "g.53705492G>A" "" "" "" "Q345X" "" "SUMMARY record" "" "rs121918202" "0" "" "" "g.53671580G>A" "" "pathogenic (recessive)" "" "0000016600" "0" "90" "16" "53679606" "53679606" "subst" "2.44027E-5" "00015" "RPGRIP1L_000005" "g.53679606G>A" "" "" "" "Q872X" "" "SUMMARY record" "" "rs121918203" "0" "" "" "g.53645694G>A" "" "pathogenic (recessive)" "" "0000016601" "0" "99" "16" "53639522" "53639522" "subst" "0.000549164" "00015" "RPGRIP1L_000006" "g.53639522G>A" "0/96 CON" "{PMID:Khanna 2009:19430481}" "" "R1236C" "1 MKS5 patient with undetermined ethnicity; pathogenic in Zebrafish model" "SUMMARY record" "yes" "rs151332923" "0" "" "" "g.53605610G>A" "" "pathogenic" "" "0000016602" "0" "77" "16" "53686770" "53686770" "subst" "4.0794E-6" "00015" "RPGRIP1L_000007" "g.53686770T>G" "83/4463 CON" "{PMID:Otto 2011:21068128}" "" "c.1829A/C: p.H610P" "1 English MKS5 family (com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.53652858T>G" "" "likely pathogenic" "" "0000016603" "0" "99" "16" "53720397" "53720400" "del" "0" "00015" "RPGRIP1L_000008" "g.53720397_53720400del" "" "{PMID:Otto 2011:21068128}" "" "c.721-4delAATG: p.N241fsX25" "1 English MKS5 family (com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.53686485_53686488del" "" "pathogenic" "" "0000052288" "1" "70" "16" "53686756" "53686756" "subst" "6.11481E-5" "01188" "RPGRIP1L_000009" "g.53686756T>G" "" "{PMID:Kroes 2016:25920555}" "" "also reported as c.1843A>T (Thr615Ser)" "" "Unknown" "?" "rs121918198" "0" "" "" "g.53652844T>G" "" "likely pathogenic" "" "0000052289" "2" "70" "16" "53720409" "53720409" "del" "0" "01188" "RPGRIP1L_000010" "g.53720409del" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Unknown" "?" "" "0" "" "" "g.53686497del" "" "likely pathogenic" "" "0000060484" "2" "50" "16" "53682940" "53682940" "subst" "0.000731125" "00229" "RPGRIP1L_000001" "g.53682940C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "" "Germline" "" "" "0" "" "" "g.53649028C>T" "" "VUS" "" "0000060485" "1" "50" "16" "53706839" "53706839" "subst" "4.07329E-6" "00229" "RPGRIP1L_000002" "g.53706839G>C" "" "{PMID:Neveling 2012:22334370}" "" "" "" "Germline" "" "" "0" "" "" "g.53672927G>C" "" "VUS" "" "0000060486" "1" "50" "16" "53690434" "53690434" "subst" "8.12559E-6" "00010" "RPGRIP1L_000003" "g.53690434T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.53656522T>C" "" "VUS" "" "0000060487" "2" "50" "16" "53690434" "53690434" "subst" "8.12559E-6" "00010" "RPGRIP1L_000003" "g.53690434T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.53656522T>C" "" "VUS" "" "0000247362" "0" "10" "16" "53705453" "53705453" "subst" "0.00115762" "02330" "RPGRIP1L_000049" "g.53705453A>G" "" "" "" "RPGRIP1L(NM_001308334.3):c.1072T>C (p.L358=), RPGRIP1L(NM_015272.4):c.1072T>C (p.L358=), RPGRIP1L(NM_015272.5):c.1072T>C (p.L358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53671541A>G" "" "benign" "" "0000247363" "0" "10" "16" "53692694" "53692694" "subst" "0.00317372" "02330" "RPGRIP1L_000011" "g.53692694A>G" "" "" "" "RPGRIP1L(NM_001127897.1):c.1340T>C (p.(Leu447Ser)), RPGRIP1L(NM_001308334.3):c.1340T>C (p.L447S), RPGRIP1L(NM_015272.4):c.1340T>C (p.L447S), RPGRIP..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53658782A>G" "" "benign" "" "0000247392" "0" "30" "16" "53675264" "53675264" "subst" "0.000459465" "02330" "RPGRIP1L_000029" "g.53675264A>C" "" "" "" "RPGRIP1L(NM_001308334.3):c.2807T>G (p.I936S), RPGRIP1L(NM_015272.5):c.2807T>G (p.I936S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53641352A>C" "" "likely benign" "" "0000247395" "0" "30" "16" "53679577" "53679577" "subst" "0.000447781" "02330" "RPGRIP1L_000030" "g.53679577A>T" "" "" "" "RPGRIP1L(NM_001308334.3):c.2643T>A (p.N881K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53645665A>T" "" "likely benign" "" "0000249209" "0" "10" "16" "53721764" "53721764" "del" "0" "02325" "RPGRIP1L_000056" "g.53721764del" "" "" "" "RPGRIP1L(NM_015272.5):c.632+16delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53687852del" "" "benign" "" "0000250735" "0" "30" "16" "53656291" "53656291" "del" "0" "02326" "RPGRIP1L_000064" "g.53656291del" "" "" "" "RPGRIP1L(NM_015272.2):c.3295-8del (p.(=)), RPGRIP1L(NM_015272.4):c.3295-8delT, RPGRIP1L(NM_015272.5):c.3295-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53622379del" "" "likely benign" "" "0000250759" "0" "10" "16" "53672338" "53672338" "subst" "0.00314321" "02326" "RPGRIP1L_000026" "g.53672338A>G" "" "" "" "RPGRIP1L(NM_015272.4):c.2959-15T>C, RPGRIP1L(NM_015272.5):c.2959-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53638426A>G" "" "benign" "" "0000251592" "0" "10" "16" "53671851" "53671851" "subst" "0" "02326" "RPGRIP1L_000025" "g.53671851A>T" "" "" "" "RPGRIP1L(NM_015272.5):c.3061-85T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53637939A>T" "" "benign" "" "0000251593" "0" "10" "16" "53705561" "53705561" "del" "0" "02326" "RPGRIP1L_000050" "g.53705561del" "" "" "" "RPGRIP1L(NM_015272.5):c.1030-58delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53671649del" "" "benign" "" "0000252281" "0" "30" "16" "53721892" "53721892" "subst" "9.38982E-5" "02326" "RPGRIP1L_000058" "g.53721892A>G" "" "" "" "RPGRIP1L(NM_001308334.3):c.530-15T>C, RPGRIP1L(NM_015272.5):c.530-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53687980A>G" "" "likely benign" "" "0000252629" "0" "90" "16" "53682874" "53682874" "subst" "0" "02326" "RPGRIP1L_000032" "g.53682874A>G" "" "" "" "RPGRIP1L(NM_015272.5):c.2304+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53648962A>G" "" "pathogenic" "" "0000253087" "0" "10" "16" "53656291" "53656291" "del" "0" "01943" "RPGRIP1L_000064" "g.53656291del" "" "" "" "RPGRIP1L(NM_015272.2):c.3295-8del (p.(=)), RPGRIP1L(NM_015272.4):c.3295-8delT, RPGRIP1L(NM_015272.5):c.3295-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53622379del" "" "benign" "" "0000253978" "0" "30" "16" "53672338" "53672338" "subst" "0.00314321" "01943" "RPGRIP1L_000026" "g.53672338A>G" "" "" "" "RPGRIP1L(NM_015272.4):c.2959-15T>C, RPGRIP1L(NM_015272.5):c.2959-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53638426A>G" "" "likely benign" "" "0000254144" "0" "30" "16" "53705453" "53705453" "subst" "0.00115762" "01943" "RPGRIP1L_000049" "g.53705453A>G" "" "" "" "RPGRIP1L(NM_001308334.3):c.1072T>C (p.L358=), RPGRIP1L(NM_015272.4):c.1072T>C (p.L358=), RPGRIP1L(NM_015272.5):c.1072T>C (p.L358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53671541A>G" "" "likely benign" "" "0000254159" "0" "30" "16" "53692694" "53692694" "subst" "0.00317372" "01943" "RPGRIP1L_000011" "g.53692694A>G" "" "" "" "RPGRIP1L(NM_001127897.1):c.1340T>C (p.(Leu447Ser)), RPGRIP1L(NM_001308334.3):c.1340T>C (p.L447S), RPGRIP1L(NM_015272.4):c.1340T>C (p.L447S), RPGRIP..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53658782A>G" "" "likely benign" "" "0000256085" "0" "50" "16" "53692330" "53692330" "subst" "0" "01943" "RPGRIP1L_000044" "g.53692330A>C" "" "" "" "RPGRIP1L(NM_015272.4):c.1397T>G (p.I466R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53658418A>C" "" "VUS" "" "0000295035" "0" "10" "16" "53698860" "53698860" "subst" "0.00106812" "02330" "RPGRIP1L_000047" "g.53698860T>C" "" "" "" "RPGRIP1L(NM_001127897.1):c.1165A>G (p.(Ile389Val)), RPGRIP1L(NM_001308334.3):c.1165A>G (p.I389V), RPGRIP1L(NM_015272.5):c.1165A>G (p.I389V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53664948T>C" "" "benign" "" "0000295036" "0" "30" "16" "53691388" "53691388" "subst" "0" "02330" "RPGRIP1L_000041" "g.53691388G>C" "" "" "" "RPGRIP1L(NM_001308334.3):c.1558C>G (p.H520D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53657476G>C" "" "likely benign" "" "0000295037" "0" "30" "16" "53686789" "53686789" "subst" "0.000412804" "02330" "RPGRIP1L_000038" "g.53686789C>T" "" "" "" "RPGRIP1L(NM_001127897.1):c.1810G>A (p.(Glu604Lys)), RPGRIP1L(NM_001308334.3):c.1810G>A (p.E604K), RPGRIP1L(NM_015272.4):c.1810G>A (p.E604K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53652877C>T" "" "likely benign" "" "0000295038" "0" "30" "16" "53682940" "53682940" "subst" "0.000731125" "02330" "RPGRIP1L_000001" "g.53682940C>T" "" "" "" "RPGRIP1L(NM_001127897.1):c.2240G>A (p.(Arg747Gln)), RPGRIP1L(NM_001308334.3):c.2240G>A (p.R747Q), RPGRIP1L(NM_015272.4):c.2240G>A (p.R747Q), RPGRIP..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53649028C>T" "" "likely benign" "" "0000295039" "0" "10" "16" "53644956" "53644956" "subst" "0.000476656" "02330" "RPGRIP1L_000018" "g.53644956G>A" "" "" "" "RPGRIP1L(NM_001308334.3):c.3486C>T (p.Y1162=), RPGRIP1L(NM_015272.4):c.3624C>T (p.Y1208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53611044G>A" "" "benign" "" "0000295040" "0" "30" "16" "53639522" "53639522" "subst" "0.000549164" "02330" "RPGRIP1L_000006" "g.53639522G>A" "" "" "" "RPGRIP1L(NM_015272.5):c.3706C>T (p.R1236C, p.(Arg1236Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53605610G>A" "" "likely benign" "" "0000295041" "0" "10" "16" "53725961" "53725961" "subst" "5.69643E-5" "02330" "RPGRIP1L_000061" "g.53725961C>T" "" "" "" "RPGRIP1L(NM_001308334.3):c.529+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53692049C>T" "" "benign" "" "0000295042" "0" "30" "16" "53721875" "53721875" "subst" "0.000452146" "02330" "RPGRIP1L_000057" "g.53721875T>C" "" "" "" "RPGRIP1L(NM_001308334.3):c.532A>G (p.I178V), RPGRIP1L(NM_015272.5):c.532A>G (p.I178V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53687963T>C" "" "likely benign" "" "0000295043" "0" "30" "16" "53720481" "53720481" "subst" "0.000406881" "02330" "RPGRIP1L_000055" "g.53720481C>T" "" "" "" "RPGRIP1L(NM_001308334.3):c.640G>A (p.V214I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53686569C>T" "" "likely benign" "" "0000295044" "0" "30" "16" "53720462" "53720462" "subst" "2.44057E-5" "02330" "RPGRIP1L_000054" "g.53720462C>T" "" "" "" "RPGRIP1L(NM_001308334.3):c.659G>A (p.G220D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53686550C>T" "" "likely benign" "" "0000295045" "0" "10" "16" "53720436" "53720436" "subst" "0.0355205" "02330" "RPGRIP1L_000053" "g.53720436C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.685G>A (p.A229T), RPGRIP1L(NM_015272.5):c.685G>A (p.A229T, p.(Ala229Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53686524C>T" "" "benign" "" "0000297739" "0" "90" "16" "53691391" "53691391" "subst" "0" "02325" "RPGRIP1L_000042" "g.53691391G>A" "" "" "" "RPGRIP1L(NM_001308334.3):c.1555C>T (p.Q519*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53657479G>A" "" "pathogenic" "" "0000301492" "0" "10" "16" "53690251" "53690251" "subst" "0" "02326" "RPGRIP1L_000039" "g.53690251T>C" "" "" "" "RPGRIP1L(NM_015272.5):c.1699+133A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53656339T>C" "" "benign" "" "0000301493" "0" "10" "16" "53682949" "53682949" "subst" "4.06233E-6" "02326" "RPGRIP1L_000033" "g.53682949C>A" "" "" "" "RPGRIP1L(NM_015272.5):c.2231G>T (p.R744L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53649037C>A" "" "benign" "" "0000301494" "0" "10" "16" "53672418" "53672418" "subst" "0" "02326" "RPGRIP1L_000027" "g.53672418T>C" "" "" "" "RPGRIP1L(NM_015272.5):c.2959-95A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53638506T>C" "" "benign" "" "0000301495" "0" "10" "16" "53671509" "53671509" "subst" "0" "02326" "RPGRIP1L_000023" "g.53671509C>T" "" "" "" "RPGRIP1L(NM_015272.5):c.3220+98G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53637597C>T" "" "benign" "" "0000301496" "0" "10" "16" "53653005" "53653005" "subst" "0.00962811" "02326" "RPGRIP1L_000012" "g.53653005G>C" "" "" "" "RPGRIP1L(NM_001127897.1):c.3308C>G (p.(Ala1103Gly)), RPGRIP1L(NM_015272.4):c.3548C>G (p.A1183G), RPGRIP1L(NM_015272.5):c.3548C>G (p.A1183G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53619093G>C" "" "benign" "" "0000301497" "0" "10" "16" "53644789" "53644789" "subst" "0" "02326" "RPGRIP1L_000017" "g.53644789C>T" "" "" "" "RPGRIP1L(NM_015272.5):c.3701+90G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53610877C>T" "" "benign" "" "0000301498" "0" "10" "16" "53639438" "53639438" "subst" "0.0722761" "02326" "RPGRIP1L_000016" "g.53639438C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.3790G>A (p.D1264N), RPGRIP1L(NM_015272.5):c.3790G>A (p.D1264N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53605526C>T" "" "benign" "" "0000301499" "0" "10" "16" "53725914" "53725914" "subst" "0" "02326" "RPGRIP1L_000059" "g.53725914G>T" "" "" "" "RPGRIP1L(NM_015272.5):c.529+64C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53692002G>T" "" "benign" "" "0000301500" "0" "10" "16" "53725914" "53725914" "del" "0" "02326" "RPGRIP1L_000060" "g.53725914del" "" "" "" "RPGRIP1L(NM_015272.5):c.529+64delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53692002del" "" "benign" "" "0000301501" "0" "30" "16" "53720436" "53720436" "subst" "0.0355205" "02326" "RPGRIP1L_000053" "g.53720436C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.685G>A (p.A229T), RPGRIP1L(NM_015272.5):c.685G>A (p.A229T, p.(Ala229Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53686524C>T" "" "likely benign" "" "0000307346" "0" "30" "16" "53705440" "53705440" "subst" "9.40357E-5" "01943" "RPGRIP1L_000048" "g.53705440T>C" "" "" "" "RPGRIP1L(NM_015272.4):c.1085A>G (p.Y362C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53671528T>C" "" "likely benign" "" "0000307347" "0" "10" "16" "53692693" "53692693" "subst" "0.0217895" "01943" "RPGRIP1L_000045" "g.53692693C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.1341G>A (p.L447=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53658781C>T" "" "benign" "" "0000307348" "0" "50" "16" "53691527" "53691527" "subst" "0.000117446" "01943" "RPGRIP1L_000043" "g.53691527T>G" "" "" "" "RPGRIP1L(NM_015272.4):c.1419A>C (p.K473N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53657615T>G" "" "VUS" "" "0000307350" "0" "90" "16" "53686756" "53686756" "subst" "6.11481E-5" "01943" "RPGRIP1L_000009" "g.53686756T>G" "" "" "" "RPGRIP1L(NM_015272.4):c.1843A>C (p.T615P), RPGRIP1L(NM_015272.5):c.1843A>C (p.(Thr615Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53652844T>G" "" "pathogenic" "" "0000307351" "0" "30" "16" "53686732" "53686732" "subst" "0" "01943" "RPGRIP1L_000037" "g.53686732C>A" "" "" "" "RPGRIP1L(NM_015272.4):c.1867G>T (p.A623S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53652820C>A" "" "likely benign" "" "0000307352" "0" "50" "16" "53686539" "53686539" "subst" "0" "01943" "RPGRIP1L_000036" "g.53686539C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.2060G>A (p.S687N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53652627C>T" "" "VUS" "" "0000307353" "0" "30" "16" "53683031" "53683031" "subst" "0.00153576" "01943" "RPGRIP1L_000035" "g.53683031C>G" "" "" "" "RPGRIP1L(NM_001127897.1):c.2153-4G>C (p.?), RPGRIP1L(NM_001330538.2):c.2153-4G>C, RPGRIP1L(NM_015272.4):c.2153-4G>C, RPGRIP1L(NM_015272.5):c.2153-4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53649119C>G" "" "likely benign" "" "0000307354" "0" "10" "16" "53682949" "53682949" "subst" "0.0456606" "01943" "RPGRIP1L_000034" "g.53682949C>T" "" "" "" "RPGRIP1L(NM_001127897.1):c.2231G>A (p.(Arg744Gln)), RPGRIP1L(NM_015272.4):c.2231G>A (p.R744Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53649037C>T" "" "benign" "" "0000307355" "0" "30" "16" "53679821" "53679821" "subst" "0.000211313" "01943" "RPGRIP1L_000031" "g.53679821T>G" "" "" "" "RPGRIP1L(NM_001127897.1):c.2399A>C (p.(Asn800Thr)), RPGRIP1L(NM_015272.4):c.2399A>C (p.N800T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53645909T>G" "" "likely benign" "" "0000307356" "0" "10" "16" "53671754" "53671754" "subst" "0.111119" "01943" "RPGRIP1L_000024" "g.53671754C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.3073G>A (p.G1025S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53637842C>T" "" "benign" "" "0000307357" "0" "10" "16" "53656135" "53656135" "subst" "0.121305" "01943" "RPGRIP1L_000022" "g.53656135G>C" "" "" "" "RPGRIP1L(NM_015272.4):c.3428C>G (p.T1143S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53622223G>C" "" "benign" "" "0000307358" "0" "30" "16" "53644956" "53644956" "subst" "0.000476656" "01943" "RPGRIP1L_000018" "g.53644956G>A" "" "" "" "RPGRIP1L(NM_001308334.3):c.3486C>T (p.Y1162=), RPGRIP1L(NM_015272.4):c.3624C>T (p.Y1208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53611044G>A" "" "likely benign" "" "0000307359" "0" "50" "16" "53653041" "53653041" "subst" "0.000105586" "01943" "RPGRIP1L_000020" "g.53653041C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.3512G>A (p.R1171Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53619129C>T" "" "VUS" "" "0000307360" "0" "30" "16" "53652998" "53652998" "subst" "0" "01943" "RPGRIP1L_000019" "g.53652998C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.3555G>A (p.E1185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53619086C>T" "" "likely benign" "" "0000307361" "0" "10" "16" "53639438" "53639438" "subst" "0.0722761" "01943" "RPGRIP1L_000016" "g.53639438C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.3790G>A (p.D1264N), RPGRIP1L(NM_015272.5):c.3790G>A (p.D1264N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53605526C>T" "" "benign" "" "0000307362" "0" "30" "16" "53639404" "53639404" "subst" "8.12367E-6" "01943" "RPGRIP1L_000015" "g.53639404T>C" "" "" "" "RPGRIP1L(NM_015272.4):c.3824A>G (p.Q1275R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53605492T>C" "" "likely benign" "" "0000307363" "0" "10" "16" "53636000" "53636000" "subst" "0.0538984" "01943" "RPGRIP1L_000014" "g.53636000G>A" "" "" "" "RPGRIP1L(NM_015272.4):c.3936C>T (p.D1312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53602088G>A" "" "benign" "" "0000307364" "0" "10" "16" "53720436" "53720436" "subst" "0.0355205" "01943" "RPGRIP1L_000053" "g.53720436C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.685G>A (p.A229T), RPGRIP1L(NM_015272.5):c.685G>A (p.A229T, p.(Ala229Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53686524C>T" "" "benign" "" "0000307365" "0" "90" "16" "53720409" "53720409" "del" "0" "01943" "RPGRIP1L_000010" "g.53720409del" "" "" "" "RPGRIP1L(NM_015272.4):c.712delA (p.R238Efs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53686497del" "" "pathogenic" "" "0000307366" "0" "90" "16" "53706825" "53706826" "del" "0" "01943" "RPGRIP1L_000051" "g.53706825_53706826del" "" "" "" "RPGRIP1L(NM_015272.4):c.986_987delAA (p.K329Tfs*9), RPGRIP1L(NM_015272.5):c.986_987delAA (p.K329Tfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53672913_53672914del" "" "pathogenic" "" "0000324781" "0" "50" "16" "53675258" "53675258" "subst" "4.06636E-6" "01804" "RPGRIP1L_000028" "g.53675258C>G" "" "" "" "RPGRIP1L(NM_001127897.1):c.2813G>C (p.(Ser938Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53641346C>G" "" "VUS" "" "0000324782" "0" "30" "16" "53692703" "53692703" "subst" "7.25299E-5" "01804" "RPGRIP1L_000046" "g.53692703C>T" "" "" "" "RPGRIP1L(NM_001127897.1):c.1331G>A (p.(Arg444His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53658791C>T" "" "likely benign" "" "0000341822" "0" "50" "16" "53639419" "53639419" "subst" "0" "02327" "RPGRIP1L_000062" "g.53639419C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53605507C>T" "" "VUS" "" "0000345046" "0" "90" "16" "53671625" "53671625" "subst" "0" "02327" "RPGRIP1L_000063" "g.53671625C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53637713C>A" "" "pathogenic" "" "0000558440" "0" "10" "16" "53644860" "53644860" "subst" "0.000117877" "02330" "RPGRIP1L_000065" "g.53644860T>G" "" "" "" "RPGRIP1L(NM_001308334.3):c.3563+19A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53610948T>G" "" "benign" "" "0000558441" "0" "10" "16" "53656191" "53656191" "subst" "0.00148844" "02330" "RPGRIP1L_000066" "g.53656191G>A" "" "" "" "RPGRIP1L(NM_015272.5):c.3372C>T (p.S1124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53622279G>A" "" "benign" "" "0000558443" "0" "30" "16" "53656291" "53656291" "del" "0" "01804" "RPGRIP1L_000064" "g.53656291del" "" "" "" "RPGRIP1L(NM_015272.2):c.3295-8del (p.(=)), RPGRIP1L(NM_015272.4):c.3295-8delT, RPGRIP1L(NM_015272.5):c.3295-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53622379del" "" "likely benign" "" "0000558444" "0" "10" "16" "53670317" "53670317" "dup" "0" "02326" "RPGRIP1L_000068" "g.53670317dup" "" "" "" "RPGRIP1L(NM_015272.5):c.3294+36dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53636405dup" "" "benign" "" "0000558445" "0" "30" "16" "53672285" "53672285" "subst" "4.07335E-6" "01943" "RPGRIP1L_000069" "g.53672285T>C" "" "" "" "RPGRIP1L(NM_015272.4):c.2997A>G (p.S999=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53638373T>C" "" "likely benign" "" "0000558446" "0" "30" "16" "53674978" "53674978" "subst" "0.00551017" "01943" "RPGRIP1L_000070" "g.53674978T>C" "" "" "" "RPGRIP1L(NM_015272.4):c.2925A>G (p.V975=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53641066T>C" "" "likely benign" "" "0000558447" "0" "50" "16" "53679590" "53679590" "subst" "8.13736E-6" "02330" "RPGRIP1L_000071" "g.53679590A>G" "" "" "" "RPGRIP1L(NM_001308334.3):c.2630T>C (p.I877T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53645678A>G" "" "VUS" "" "0000558448" "0" "30" "16" "53682940" "53682940" "subst" "0.000731125" "01804" "RPGRIP1L_000001" "g.53682940C>T" "" "" "" "RPGRIP1L(NM_001127897.1):c.2240G>A (p.(Arg747Gln)), RPGRIP1L(NM_001308334.3):c.2240G>A (p.R747Q), RPGRIP1L(NM_015272.4):c.2240G>A (p.R747Q), RPGRIP..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53649028C>T" "" "likely benign" "" "0000558449" "0" "30" "16" "53682949" "53682949" "subst" "0.0456606" "01804" "RPGRIP1L_000034" "g.53682949C>T" "" "" "" "RPGRIP1L(NM_001127897.1):c.2231G>A (p.(Arg744Gln)), RPGRIP1L(NM_015272.4):c.2231G>A (p.R744Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53649037C>T" "" "likely benign" "" "0000558450" "0" "50" "16" "53683000" "53683000" "subst" "0" "01943" "RPGRIP1L_000072" "g.53683000C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.2180G>A (p.G727D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53649088C>T" "" "VUS" "" "0000558451" "0" "50" "16" "53690422" "53690422" "subst" "0" "02330" "RPGRIP1L_000073" "g.53690422A>T" "" "" "" "RPGRIP1L(NM_001308334.3):c.1661T>A (p.L554H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53656510A>T" "" "VUS" "" "0000558452" "0" "90" "16" "53690482" "53690482" "dup" "0" "01943" "RPGRIP1L_000074" "g.53690482dup" "" "" "" "RPGRIP1L(NM_015272.4):c.1603dupC (p.R535Pfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53656570dup" "" "pathogenic" "" "0000558453" "0" "30" "16" "53698869" "53698869" "subst" "0.000831397" "02330" "RPGRIP1L_000075" "g.53698869T>C" "" "" "" "RPGRIP1L(NM_001308334.3):c.1156A>G (p.K386E), RPGRIP1L(NM_015272.4):c.1156A>G (p.K386E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53664957T>C" "" "likely benign" "" "0000558454" "0" "50" "16" "53706862" "53706862" "subst" "0" "02325" "RPGRIP1L_000076" "g.53706862G>A" "" "" "" "RPGRIP1L(NM_001308334.3):c.949C>T (p.L317F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53672950G>A" "" "VUS" "" "0000558455" "0" "30" "16" "53720436" "53720436" "subst" "0.0355205" "01804" "RPGRIP1L_000053" "g.53720436C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.685G>A (p.A229T), RPGRIP1L(NM_015272.5):c.685G>A (p.A229T, p.(Ala229Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53686524C>T" "" "likely benign" "" "0000558456" "0" "10" "16" "53721892" "53721892" "subst" "9.38982E-5" "02330" "RPGRIP1L_000058" "g.53721892A>G" "" "" "" "RPGRIP1L(NM_001308334.3):c.530-15T>C, RPGRIP1L(NM_015272.5):c.530-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53687980A>G" "" "benign" "" "0000558457" "0" "50" "16" "53726089" "53726089" "subst" "0" "01943" "RPGRIP1L_000077" "g.53726089G>A" "" "" "" "RPGRIP1L(NM_015272.4):c.418C>T (p.L140F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53692177G>A" "" "VUS" "" "0000558458" "0" "90" "16" "53730097" "53730097" "subst" "0" "01943" "RPGRIP1L_000078" "g.53730097G>A" "" "" "" "RPGRIP1L(NM_015272.4):c.196C>T (p.Q66*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53696185G>A" "" "pathogenic" "" "0000558459" "0" "50" "16" "53730126" "53730126" "subst" "2.03031E-5" "01943" "RPGRIP1L_000079" "g.53730126C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.167G>A (p.R56H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53696214C>T" "" "VUS" "" "0000616035" "0" "50" "16" "53682914" "53682914" "subst" "0" "01943" "RPGRIP1L_000083" "g.53682914T>C" "" "" "" "RPGRIP1L(NM_015272.4):c.2266A>G (p.I756V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53649002T>C" "" "VUS" "" "0000616036" "0" "50" "16" "53682940" "53682940" "subst" "0.000731125" "02325" "RPGRIP1L_000001" "g.53682940C>T" "" "" "" "RPGRIP1L(NM_001127897.1):c.2240G>A (p.(Arg747Gln)), RPGRIP1L(NM_001308334.3):c.2240G>A (p.R747Q), RPGRIP1L(NM_015272.4):c.2240G>A (p.R747Q), RPGRIP..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53649028C>T" "" "VUS" "" "0000616037" "0" "30" "16" "53683031" "53683031" "subst" "0.00153576" "01804" "RPGRIP1L_000035" "g.53683031C>G" "" "" "" "RPGRIP1L(NM_001127897.1):c.2153-4G>C (p.?), RPGRIP1L(NM_001330538.2):c.2153-4G>C, RPGRIP1L(NM_015272.4):c.2153-4G>C, RPGRIP1L(NM_015272.5):c.2153-4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53649119C>G" "" "likely benign" "" "0000616038" "0" "50" "16" "53686789" "53686789" "subst" "0.000412804" "01804" "RPGRIP1L_000038" "g.53686789C>T" "" "" "" "RPGRIP1L(NM_001127897.1):c.1810G>A (p.(Glu604Lys)), RPGRIP1L(NM_001308334.3):c.1810G>A (p.E604K), RPGRIP1L(NM_015272.4):c.1810G>A (p.E604K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53652877C>T" "" "VUS" "" "0000623485" "0" "30" "16" "53652991" "53652991" "subst" "0.000438575" "01943" "RPGRIP1L_000080" "g.53652991C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.3562G>A (p.V1188M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53619079C>T" "" "likely benign" "" "0000623486" "0" "30" "16" "53679547" "53679547" "subst" "0.000457068" "02330" "RPGRIP1L_000081" "g.53679547C>T" "" "" "" "RPGRIP1L(NM_001330538.2):c.2673G>A (p.R891=), RPGRIP1L(NM_015272.5):c.2673G>A (p.R891=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53645635C>T" "" "likely benign" "" "0000623487" "0" "90" "16" "53679748" "53679748" "dup" "0" "01943" "RPGRIP1L_000082" "g.53679748dup" "" "" "" "RPGRIP1L(NM_015272.4):c.2473dupC (p.H825Pfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53645836dup" "" "pathogenic" "" "0000623488" "0" "30" "16" "53682940" "53682940" "subst" "0.000731125" "01943" "RPGRIP1L_000001" "g.53682940C>T" "" "" "" "RPGRIP1L(NM_001127897.1):c.2240G>A (p.(Arg747Gln)), RPGRIP1L(NM_001308334.3):c.2240G>A (p.R747Q), RPGRIP1L(NM_015272.4):c.2240G>A (p.R747Q), RPGRIP..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53649028C>T" "" "likely benign" "" "0000623489" "0" "30" "16" "53705407" "53705407" "subst" "8.20123E-6" "02330" "RPGRIP1L_000084" "g.53705407G>A" "" "" "" "RPGRIP1L(NM_001330538.2):c.1103+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53671495G>A" "" "likely benign" "" "0000649344" "1" "10" "16" "53653005" "53653005" "subst" "0.00962811" "03575" "RPGRIP1L_000012" "g.53653005G>C" "18/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous, no homozygous; {DB:CLININrs139974543}" "Germline" "" "rs139974543" "0" "" "" "g.53619093G>C" "" "benign" "" "0000649345" "1" "30" "16" "53686569" "53686569" "subst" "0.000788849" "03575" "RPGRIP1L_000085" "g.53686569G>A" "32/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "32 heterozygous, no homozygous; {DB:CLININrs532768944}" "Germline" "" "rs532768944" "0" "" "" "g.53652657G>A" "" "likely benign" "" "0000649346" "1" "30" "16" "53720436" "53720436" "subst" "0.0355205" "03575" "RPGRIP1L_000053" "g.53720436C>T" "243/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "243 heterozygous; {DB:CLININrs61747071}" "Germline" "" "rs61747071" "0" "" "" "g.53686524C>T" "" "likely benign" "" "0000657868" "0" "30" "16" "53686865" "53686865" "subst" "0" "01943" "RPGRIP1L_000086" "g.53686865C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.1734G>A (p.Q578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53652953C>T" "" "likely benign" "" "0000669334" "3" "30" "16" "53720436" "53720436" "subst" "0.0355205" "03575" "RPGRIP1L_000053" "g.53720436C>T" "7/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 homozygous; {DB:CLININrs61747071}" "Germline" "" "rs61747071" "0" "" "" "g.53686524C>T" "" "likely benign" "" "0000680598" "0" "30" "16" "53639483" "53639483" "subst" "0.000495979" "01804" "RPGRIP1L_000087" "g.53639483C>A" "" "" "" "RPGRIP1L(NM_001127897.1):c.3505G>T (p.(Asp1169Tyr)), RPGRIP1L(NM_015272.5):c.3745G>T (p.D1249Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680599" "0" "30" "16" "53639489" "53639489" "subst" "3.25293E-5" "01943" "RPGRIP1L_000088" "g.53639489C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.3739G>A (p.E1247K), RPGRIP1L(NM_015272.5):c.3739G>A (p.(Glu1247Lys), p.E1247K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680600" "0" "10" "16" "53656291" "53656291" "dup" "0" "02326" "RPGRIP1L_000089" "g.53656291dup" "" "" "" "RPGRIP1L(NM_015272.5):c.3295-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000680601" "0" "30" "16" "53679893" "53679893" "subst" "1.21975E-5" "01943" "RPGRIP1L_000090" "g.53679893G>A" "" "" "" "RPGRIP1L(NM_015272.4):c.2327C>T (p.T776I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680602" "0" "70" "16" "53690388" "53690389" "del" "4.06256E-6" "01943" "RPGRIP1L_000091" "g.53690388_53690389del" "" "" "" "RPGRIP1L(NM_015272.4):c.1694_1695delTA (p.L565Rfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000680603" "0" "30" "16" "53698860" "53698860" "subst" "0.00106812" "01804" "RPGRIP1L_000047" "g.53698860T>C" "" "" "" "RPGRIP1L(NM_001127897.1):c.1165A>G (p.(Ile389Val)), RPGRIP1L(NM_001308334.3):c.1165A>G (p.I389V), RPGRIP1L(NM_015272.5):c.1165A>G (p.I389V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680604" "0" "50" "16" "53708990" "53708990" "subst" "4.08103E-5" "01943" "RPGRIP1L_000092" "g.53708990T>A" "" "" "" "RPGRIP1L(NM_015272.4):c.821A>T (p.Q274L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692089" "0" "30" "16" "53656251" "53656251" "subst" "0.000374039" "01943" "RPGRIP1L_000093" "g.53656251G>A" "" "" "" "RPGRIP1L(NM_015272.4):c.3312C>T (p.P1104=), RPGRIP1L(NM_015272.5):c.3312C>T (p.P1104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692090" "0" "10" "16" "53675264" "53675264" "subst" "0.000459465" "02326" "RPGRIP1L_000029" "g.53675264A>C" "" "" "" "RPGRIP1L(NM_001308334.3):c.2807T>G (p.I936S), RPGRIP1L(NM_015272.5):c.2807T>G (p.I936S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692091" "0" "10" "16" "53721875" "53721875" "subst" "0.000452146" "02326" "RPGRIP1L_000057" "g.53721875T>C" "" "" "" "RPGRIP1L(NM_001308334.3):c.532A>G (p.I178V), RPGRIP1L(NM_015272.5):c.532A>G (p.I178V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692092" "0" "30" "16" "53726063" "53726063" "subst" "0.000190899" "02326" "RPGRIP1L_000094" "g.53726063A>G" "" "" "" "RPGRIP1L(NM_015272.5):c.444T>C (p.T148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725833" "0" "30" "16" "53679547" "53679547" "subst" "0.000457068" "02326" "RPGRIP1L_000081" "g.53679547C>T" "" "" "" "RPGRIP1L(NM_001330538.2):c.2673G>A (p.R891=), RPGRIP1L(NM_015272.5):c.2673G>A (p.R891=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725834" "0" "30" "16" "53679893" "53679893" "subst" "0" "01943" "RPGRIP1L_000095" "g.53679893G>C" "" "" "" "RPGRIP1L(NM_015272.4):c.2327C>G (p.T776S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725835" "0" "50" "16" "53682984" "53682984" "subst" "0" "01804" "RPGRIP1L_000096" "g.53682984C>G" "" "" "" "RPGRIP1L(NM_015272.2):c.2196G>C (p.(Trp732Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725836" "0" "30" "16" "53683031" "53683031" "subst" "0.00153576" "02326" "RPGRIP1L_000035" "g.53683031C>G" "" "" "" "RPGRIP1L(NM_001127897.1):c.2153-4G>C (p.?), RPGRIP1L(NM_001330538.2):c.2153-4G>C, RPGRIP1L(NM_015272.4):c.2153-4G>C, RPGRIP1L(NM_015272.5):c.2153-4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725837" "0" "30" "16" "53686655" "53686655" "subst" "0.000544689" "01943" "RPGRIP1L_000097" "g.53686655C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.1944G>A (p.V648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725838" "0" "50" "16" "53690423" "53690423" "subst" "0.000235642" "01943" "RPGRIP1L_000098" "g.53690423G>T" "" "" "" "RPGRIP1L(NM_015272.4):c.1660C>A (p.L554I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725839" "0" "30" "16" "53690479" "53690479" "subst" "0.000113762" "01943" "RPGRIP1L_000099" "g.53690479C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.1604G>A (p.R535H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725840" "0" "30" "16" "53705453" "53705453" "subst" "0.00115762" "02326" "RPGRIP1L_000049" "g.53705453A>G" "" "" "" "RPGRIP1L(NM_001308334.3):c.1072T>C (p.L358=), RPGRIP1L(NM_015272.4):c.1072T>C (p.L358=), RPGRIP1L(NM_015272.5):c.1072T>C (p.L358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725841" "0" "50" "16" "53726041" "53726041" "subst" "0.000186869" "01804" "RPGRIP1L_000100" "g.53726041G>A" "" "" "" "RPGRIP1L(NM_001127897.1):c.466C>T (p.(Arg156Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000730057" "3" "90" "16" "53690434" "53690434" "subst" "8.12559E-6" "00000" "RPGRIP1L_000003" "g.53690434T>C" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_015272.2:c.1649A>G:p.(Gln550Arg)" "" "Germline" "" "" "0" "" "" "g.53656522T>C" "" "pathogenic (recessive)" "" "0000730991" "0" "50" "16" "53720436" "53720436" "subst" "0.0355205" "00000" "RPGRIP1L_000053" "g.53720436C>T" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs61747071" "0" "" "" "g.53686524C>T" "" "VUS" "" "0000731013" "1" "70" "16" "53730122" "53730122" "subst" "0.000540066" "00000" "RPGRIP1L_000104" "g.53730122C>A" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs146925098" "0" "" "" "g.53696210C>A" "" "likely pathogenic (recessive)" "" "0000731020" "1" "50" "16" "53720436" "53720436" "subst" "0.0355205" "00000" "RPGRIP1L_000053" "g.53720436C>T" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs61747071" "0" "" "" "g.53686524C>T" "" "VUS" "" "0000731084" "2" "70" "16" "53721779" "53721779" "subst" "0.000305198" "00000" "RPGRIP1L_000102" "g.53721779T>C" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs146584570" "0" "" "" "g.53687867T>C" "" "likely pathogenic (recessive)" "" "0000731095" "0" "50" "16" "53674951" "53674951" "subst" "1.22268E-5" "00000" "RPGRIP1L_000101" "g.53674951C>G" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs775144757" "0" "" "" "g.53641039C>G" "" "VUS" "" "0000731096" "0" "50" "16" "53730097" "53730097" "subst" "1.21833E-5" "00000" "RPGRIP1L_000103" "g.53730097G>T" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs751444506" "0" "" "" "g.53696185G>T" "" "VUS" "" "0000759771" "11" "90" "16" "53730209" "53730209" "subst" "0" "00000" "RPGRIP1L_000106" "g.53730209T>C" "" "{PMID:Suzuki 2016:27434533}" "" "" "" "Germline" "" "" "0" "" "" "g.53696297T>C" "" "pathogenic" "" "0000759794" "21" "90" "16" "53726278" "53726278" "subst" "0" "00000" "RPGRIP1L_000105" "g.53726278T>C" "" "{PMID:Suzuki 2016:27434533}" "" "" "" "Germline" "" "" "0" "" "" "g.53692366T>C" "" "pathogenic" "" "0000759800" "11" "90" "16" "53671711" "53671711" "subst" "2.84766E-5" "00000" "RPGRIP1L_000107" "g.53671711T>C" "" "{PMID:Suzuki 2016:27434533}" "" "" "" "Germline" "" "" "0" "" "" "g.53637799T>C" "" "pathogenic" "" "0000759801" "21" "90" "16" "53706849" "53706849" "subst" "0.000167002" "00000" "RPGRIP1L_000108" "g.53706849C>T" "" "{PMID:Suzuki 2016:27434533}" "" "" "" "Germline" "" "" "0" "" "" "g.53672937C>T" "" "pathogenic" "" "0000783516" "1" "90" "16" "53679807" "53679807" "subst" "1.62541E-5" "00000" "RPGRIP1L_000111" "g.53679807G>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_015272.2:c.2413C>T" "" "Germline" "" "" "0" "" "" "g.53645895G>A" "" "pathogenic" "" "0000783517" "1" "90" "16" "53679807" "53679807" "subst" "1.62541E-5" "00000" "RPGRIP1L_000111" "g.53679807G>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_015272.2:c.2413C>T" "" "Germline" "" "" "0" "" "" "g.53645895G>A" "" "pathogenic" "" "0000783518" "1" "90" "16" "53686549" "53686549" "subst" "6.9145E-5" "00000" "RPGRIP1L_000113" "g.53686549G>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_015272.2:c.2050C>T" "" "Germline" "" "" "0" "" "" "g.53652637G>A" "" "pathogenic" "" "0000783519" "3" "90" "16" "53679916" "53679916" "subst" "0" "00000" "RPGRIP1L_000112" "g.53679916C>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_015272.2:c.2305-1G>A" "" "Germline" "" "" "0" "" "" "g.53646004C>T" "" "pathogenic" "" "0000783520" "3" "90" "16" "53686878" "53686878" "del" "0" "00000" "RPGRIP1L_000115" "g.53686878del" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_015272.2:c.1721delA" "" "Germline" "" "" "0" "" "" "g.53652966del" "" "pathogenic" "" "0000783521" "1" "90" "16" "53698893" "53698893" "del" "0" "00000" "RPGRIP1L_000118" "g.53698893del" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_015272.2:c.1132delT" "" "Germline" "" "" "0" "" "" "g.53664981del" "" "pathogenic" "" "0000783522" "3" "90" "16" "53679916" "53679916" "subst" "0" "00000" "RPGRIP1L_000112" "g.53679916C>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_015272.2:c.2305-1G>A" "" "Germline" "" "" "0" "" "" "g.53646004C>T" "" "pathogenic" "" "0000783523" "1" "90" "16" "53698781" "53698781" "subst" "0" "00000" "RPGRIP1L_000117" "g.53698781C>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_015272.2:c.1243+1G>A" "" "Germline" "" "" "0" "" "" "g.53664869C>T" "" "pathogenic" "" "0000783524" "1" "90" "16" "53653024" "53653024" "subst" "1.62438E-5" "00000" "RPGRIP1L_000110" "g.53653024G>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_015272.2:c.3529C>T" "" "Germline" "" "" "0" "" "" "g.53619112G>A" "" "pathogenic" "" "0000783716" "2" "90" "16" "53686624" "53686624" "subst" "0" "00000" "RPGRIP1L_000114" "g.53686624A>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_015272.2:c.1975T>C" "" "Germline" "" "" "0" "" "" "g.53652712A>G" "" "pathogenic" "" "0000783717" "2" "90" "16" "53686624" "53686624" "subst" "0" "00000" "RPGRIP1L_000114" "g.53686624A>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_015272.2:c.1975T>C" "" "Germline" "" "" "0" "" "" "g.53652712A>G" "" "pathogenic" "" "0000783718" "2" "90" "16" "53686756" "53686756" "subst" "6.11481E-5" "00000" "RPGRIP1L_000009" "g.53686756T>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_015272.2:c.1843A>C" "" "Germline" "" "" "0" "" "" "g.53652844T>G" "" "pathogenic" "" "0000783719" "2" "90" "16" "53686892" "53686892" "dup" "0" "00000" "RPGRIP1L_000116" "g.53686892dup" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_015272.2:c.1709dupA" "" "Germline" "" "" "0" "" "" "g.53652980dup" "" "pathogenic" "" "0000783720" "2" "90" "16" "53644878" "53644878" "subst" "0" "00000" "RPGRIP1L_000109" "g.53644878C>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_015272.2:c.3701+1G>T" "" "Germline" "" "" "0" "" "" "g.53610966C>A" "" "pathogenic" "" "0000783721" "2" "90" "16" "53686756" "53686756" "subst" "6.11481E-5" "00000" "RPGRIP1L_000009" "g.53686756T>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_015272.2:c.1843A>C" "" "Germline" "" "" "0" "" "" "g.53652844T>G" "" "pathogenic" "" "0000785420" "0" "50" "16" "53682949" "53682949" "subst" "0.0456606" "00000" "RPGRIP1L_000034" "g.53682949C>T" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Germline" "" "" "0" "" "" "g.53649037C>T" "" "VUS" "" "0000785442" "0" "50" "16" "53682949" "53682949" "subst" "0.0456606" "00000" "RPGRIP1L_000034" "g.53682949C>T" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Germline" "" "" "0" "" "" "g.53649037C>T" "" "VUS" "" "0000785444" "0" "50" "16" "53682949" "53682949" "subst" "0.0456606" "00000" "RPGRIP1L_000034" "g.53682949C>T" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Germline" "" "" "0" "" "" "g.53649037C>T" "" "VUS" "" "0000788449" "0" "50" "16" "53692703" "53692703" "subst" "7.25299E-5" "00000" "RPGRIP1L_000046" "g.53692703C>T" "" "{PMID:Katagiri 2014:25268133}" "" "G1331A" "" "Germline" "" "rs76600508" "0" "" "" "g.53658791C>T" "" "VUS" "" "0000791800" "0" "70" "16" "53639438" "53639438" "subst" "0" "00000" "RPGRIP1L_000119" "g.53639438C>A" "" "{PMID:Brooks 2018:30055837}" "" "c.3790G>T; p.D126 (table cell is cut in the supplementary table PDF file)" "" "Germline" "?" "" "0" "" "" "g.53605526C>A" "" "likely pathogenic" "" "0000791878" "0" "70" "16" "53692694" "53692694" "subst" "0.00317372" "00000" "RPGRIP1L_000011" "g.53692694A>G" "" "{PMID:Brooks 2018:30055837}" "" "340T>C; p.L447S (table cell is cut in the supplementary table PDF file)" "" "Germline" "?" "" "0" "" "" "g.53658782A>G" "" "likely pathogenic" "" "0000791879" "0" "70" "16" "53720444" "53720450" "del" "0" "00000" "RPGRIP1L_000124" "g.53720444_53720450del" "" "{PMID:Brooks 2018:30055837}" "" "c.671_677del; p.Q224Gfs*7" "" "Germline" "?" "" "0" "" "" "g.53686532_53686538del" "" "likely pathogenic" "" "0000791961" "0" "90" "16" "53686770" "53686770" "subst" "4.0794E-6" "00000" "RPGRIP1L_000007" "g.53686770T>G" "" "{PMID:Otto 2011:21068128}" "" "c.1829A/C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791962" "0" "90" "16" "53720397" "53720400" "del" "0" "00000" "RPGRIP1L_000123" "g.53720397_53720400delCATT" "" "{PMID:Otto 2011:21068128}" "" "c.721e4delAATG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000791977" "0" "90" "16" "53698848" "53698848" "subst" "0.000138702" "00000" "RPGRIP1L_000122" "g.53698848C>T" "" "{PMID:Otto 2011:21068128}" "" "c.1177G/A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792004" "0" "90" "16" "53686635" "53686635" "subst" "0" "00000" "RPGRIP1L_000121" "g.53686635T>C" "" "{PMID:Otto 2011:21068128}" "" "c.1964A/G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792205" "3" "50" "16" "53679770" "53679770" "subst" "0" "00000" "RPGRIP1L_000120" "g.53679770T>C" "" "{PMID:Chaki 2011:21422230}" "" "RPGRIP1L:c.2450A>G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000793978" "0" "90" "16" "53690434" "53690434" "subst" "8.12559E-6" "00000" "RPGRIP1L_000003" "g.53690434T>C" "" "{PMID:alazami-2012:22693042}" "" "c.1649A>G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000796158" "0" "10" "16" "53656211" "53656211" "subst" "3.72967E-5" "00000" "RPGRIP1L_000125" "g.53656211A>G" "" "{PMID:Nishiguchi-2013:24043777}" "" "c.3352T>C" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000796163" "0" "50" "16" "53686789" "53686789" "subst" "0.000412804" "00000" "RPGRIP1L_000038" "g.53686789C>T" "" "{PMID:Nishiguchi-2013:24043777}" "" "c.1810G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000807442" "0" "30" "16" "53656191" "53656191" "subst" "0.00148844" "02326" "RPGRIP1L_000066" "g.53656191G>A" "" "" "" "RPGRIP1L(NM_015272.5):c.3372C>T (p.S1124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807443" "0" "30" "16" "53674989" "53674989" "subst" "6.10903E-5" "02326" "RPGRIP1L_000126" "g.53674989C>T" "" "" "" "RPGRIP1L(NM_015272.5):c.2914G>A (p.D972N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807444" "0" "30" "16" "53682940" "53682940" "subst" "0.000731125" "02326" "RPGRIP1L_000001" "g.53682940C>T" "" "" "" "RPGRIP1L(NM_001127897.1):c.2240G>A (p.(Arg747Gln)), RPGRIP1L(NM_001308334.3):c.2240G>A (p.R747Q), RPGRIP1L(NM_015272.4):c.2240G>A (p.R747Q), RPGRIP..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807445" "0" "50" "16" "53686789" "53686789" "subst" "0.000412804" "01943" "RPGRIP1L_000038" "g.53686789C>T" "" "" "" "RPGRIP1L(NM_001127897.1):c.1810G>A (p.(Glu604Lys)), RPGRIP1L(NM_001308334.3):c.1810G>A (p.E604K), RPGRIP1L(NM_015272.4):c.1810G>A (p.E604K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807446" "0" "50" "16" "53690401" "53690401" "subst" "0.000235629" "01943" "RPGRIP1L_000127" "g.53690401C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.1682G>A (p.R561H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807447" "0" "30" "16" "53692699" "53692699" "subst" "4.28471E-6" "01943" "RPGRIP1L_000128" "g.53692699T>A" "" "" "" "RPGRIP1L(NM_015272.4):c.1335A>T (p.I445=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807448" "0" "50" "16" "53730153" "53730153" "subst" "1.62425E-5" "01943" "RPGRIP1L_000129" "g.53730153C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.140G>A (p.R47H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000818266" "0" "90" "16" "53692694" "53692694" "subst" "0.00317372" "00000" "RPGRIP1L_000011" "g.53692694A>G" "" "{PMID:Summers 2017:28497568}" "" "c.1340T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818267" "0" "90" "16" "53639438" "53639438" "subst" "0" "00000" "RPGRIP1L_000119" "g.53639438C>A" "" "{PMID:Summers 2017:28497568}" "" "c.3790G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818268" "0" "90" "16" "53720444" "53720450" "del" "0" "00000" "RPGRIP1L_000124" "g.53720444_53720450del" "" "{PMID:Summers 2017:28497568}" "" "c.671_677del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000834104" "11" "50" "16" "53639398" "53639398" "subst" "0" "00006" "RPGRIP1L_000130" "g.53639398A>C" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.3830(exon26)T>G" "" "Germline" "" "" "0" "" "" "g.53605486A>C" "" "VUS" "ACMG" "0000834105" "3" "50" "16" "53683000" "53683000" "subst" "0" "00006" "RPGRIP1L_000072" "g.53683000C>T" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.2180(exon16)G>A" "" "Germline" "" "rs546150528" "0" "" "" "g.53649088C>T" "" "VUS" "ACMG" "0000834163" "21" "50" "16" "53692387" "53692387" "subst" "1.22668E-5" "00006" "RPGRIP1L_000131" "g.53692387T>C" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.1351-11(IVS11)A>G" "" "Germline" "" "rs750076702" "0" "" "" "g.53658475T>C" "" "VUS" "ACMG" "0000846501" "3" "70" "16" "53690502" "53690502" "subst" "4.06504E-6" "00000" "RPGRIP1L_000132" "g.53690502C>G" "" "{PMID:Alabdullatif 2017:27717089}" "" "RPGRIP1L c.1582-1G>C," "homozygous" "Germline" "yes" "" "0" "" "" "g.53656590C>G" "" "likely pathogenic" "" "0000847311" "3" "70" "6" "53690434" "53690434" "subst" "0" "00000" "RPGRIP1L_000003" "g.53690434T>C" "" "{PMID:Alazami 2012:22693042}" "" "RPGRIP1L c.1649A>G, p.Q550R" "homozygous" "Germline" "yes" "" "0" "" "" "g.53656522T>C" "" "likely pathogenic" "" "0000854542" "0" "30" "16" "53639447" "53639447" "subst" "0" "01943" "RPGRIP1L_000134" "g.53639447C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.3781G>A (p.D1261N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854543" "0" "30" "16" "53656251" "53656251" "subst" "0.000374039" "02326" "RPGRIP1L_000093" "g.53656251G>A" "" "" "" "RPGRIP1L(NM_015272.4):c.3312C>T (p.P1104=), RPGRIP1L(NM_015272.5):c.3312C>T (p.P1104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854544" "0" "50" "16" "53691450" "53691450" "subst" "0" "01943" "RPGRIP1L_000140" "g.53691450T>G" "" "" "" "RPGRIP1L(NM_015272.4):c.1496A>C (p.Q499P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854545" "0" "50" "16" "53698869" "53698869" "subst" "0.000831397" "01943" "RPGRIP1L_000075" "g.53698869T>C" "" "" "" "RPGRIP1L(NM_001308334.3):c.1156A>G (p.K386E), RPGRIP1L(NM_015272.4):c.1156A>G (p.K386E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854546" "0" "30" "16" "53726183" "53726183" "subst" "3.65506E-5" "01804" "RPGRIP1L_000141" "g.53726183C>G" "" "" "" "RPGRIP1L(NM_001127897.1):c.324G>C (p.(Met108Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854547" "0" "50" "16" "53738100" "53738100" "subst" "2.03302E-5" "02325" "RPGRIP1L_000142" "g.53738100A>G" "" "" "" "FTO(NM_001080432.3):c.4A>G (p.K2E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864833" "0" "30" "16" "53636097" "53636097" "subst" "6.13577E-5" "01943" "RPGRIP1L_000133" "g.53636097A>G" "" "" "" "RPGRIP1L(NM_015272.4):c.3839T>C (p.F1280S), RPGRIP1L(NM_015272.5):c.3839T>C (p.(Phe1280Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864834" "0" "30" "16" "53639451" "53639451" "subst" "1.21918E-5" "01943" "RPGRIP1L_000135" "g.53639451G>A" "" "" "" "RPGRIP1L(NM_015272.4):c.3777C>T (p.H1259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864835" "0" "30" "16" "53653005" "53653005" "subst" "0.00962811" "01804" "RPGRIP1L_000012" "g.53653005G>C" "" "" "" "RPGRIP1L(NM_001127897.1):c.3308C>G (p.(Ala1103Gly)), RPGRIP1L(NM_015272.4):c.3548C>G (p.A1183G), RPGRIP1L(NM_015272.5):c.3548C>G (p.A1183G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864836" "0" "30" "16" "53679538" "53679538" "subst" "0.000179993" "01943" "RPGRIP1L_000136" "g.53679538T>C" "" "" "" "RPGRIP1L(NM_001127897.1):c.2682A>G (p.(Ser894=)), RPGRIP1L(NM_015272.4):c.2682A>G (p.S894=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864837" "0" "30" "16" "53679538" "53679538" "subst" "0.000179993" "01804" "RPGRIP1L_000136" "g.53679538T>C" "" "" "" "RPGRIP1L(NM_001127897.1):c.2682A>G (p.(Ser894=)), RPGRIP1L(NM_015272.4):c.2682A>G (p.S894=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864838" "0" "30" "16" "53686496" "53686496" "subst" "2.03472E-5" "02330" "RPGRIP1L_000137" "g.53686496G>A" "" "" "" "RPGRIP1L(NM_001330538.2):c.2103C>T (p.H701=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864839" "0" "30" "16" "53686639" "53686639" "subst" "0.000516176" "01943" "RPGRIP1L_000138" "g.53686639C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.1960G>A (p.E654K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864840" "0" "50" "16" "53686695" "53686695" "subst" "1.62648E-5" "01804" "RPGRIP1L_000139" "g.53686695T>C" "" "" "" "RPGRIP1L(NM_001127897.1):c.1904A>G (p.(Tyr635Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000873919" "0" "10" "16" "53692694" "53692694" "subst" "0.00317372" "00000" "RPGRIP1L_000011" "g.53692694A>G" "" "{PMID:Bell 2011:21228398}" "" "RPGRIP1L 16:52250195 (hg18) het CM093292" "non-causative, heterozygous" "Germline" "?" "" "0" "" "" "g.53658782A>G" "" "benign" "" "0000893052" "0" "30" "16" "53639448" "53639448" "subst" "0.000215402" "02330" "RPGRIP1L_000143" "g.53639448G>A" "" "" "" "RPGRIP1L(NM_001330538.2):c.3678C>T (p.V1226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893053" "0" "30" "16" "53639483" "53639483" "subst" "0.000495979" "02326" "RPGRIP1L_000087" "g.53639483C>A" "" "" "" "RPGRIP1L(NM_001127897.1):c.3505G>T (p.(Asp1169Tyr)), RPGRIP1L(NM_015272.5):c.3745G>T (p.D1249Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893054" "0" "30" "16" "53639489" "53639489" "subst" "3.25293E-5" "02326" "RPGRIP1L_000088" "g.53639489C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.3739G>A (p.E1247K), RPGRIP1L(NM_015272.5):c.3739G>A (p.(Glu1247Lys), p.E1247K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893055" "0" "30" "16" "53675189" "53675189" "subst" "3.25757E-5" "02326" "RPGRIP1L_000144" "g.53675189A>G" "" "" "" "RPGRIP1L(NM_015272.5):c.2874+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893056" "0" "30" "16" "53679688" "53679688" "subst" "8.1283E-6" "02330" "RPGRIP1L_000145" "g.53679688G>A" "" "" "" "RPGRIP1L(NM_001330538.2):c.2532C>T (p.F844=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893057" "0" "30" "16" "53679821" "53679821" "subst" "0.000211313" "01804" "RPGRIP1L_000031" "g.53679821T>G" "" "" "" "RPGRIP1L(NM_001127897.1):c.2399A>C (p.(Asn800Thr)), RPGRIP1L(NM_015272.4):c.2399A>C (p.N800T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893058" "0" "30" "16" "53683031" "53683031" "subst" "0.00153576" "02330" "RPGRIP1L_000035" "g.53683031C>G" "" "" "" "RPGRIP1L(NM_001127897.1):c.2153-4G>C (p.?), RPGRIP1L(NM_001330538.2):c.2153-4G>C, RPGRIP1L(NM_015272.4):c.2153-4G>C, RPGRIP1L(NM_015272.5):c.2153-4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893059" "0" "30" "16" "53686569" "53686569" "subst" "0.000788849" "02326" "RPGRIP1L_000085" "g.53686569G>A" "" "" "" "RPGRIP1L(NM_015272.5):c.2030C>T (p.T677I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893060" "0" "30" "16" "53698860" "53698860" "subst" "0.00106812" "02326" "RPGRIP1L_000047" "g.53698860T>C" "" "" "" "RPGRIP1L(NM_001127897.1):c.1165A>G (p.(Ile389Val)), RPGRIP1L(NM_001308334.3):c.1165A>G (p.I389V), RPGRIP1L(NM_015272.5):c.1165A>G (p.I389V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893061" "0" "30" "16" "53720502" "53720502" "subst" "0" "02330" "RPGRIP1L_000146" "g.53720502C>G" "" "" "" "RPGRIP1L(NM_001330538.2):c.633-14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914640" "0" "30" "16" "53644955" "53644955" "subst" "1.62906E-5" "01804" "RPGRIP1L_000147" "g.53644955C>T" "" "" "" "RPGRIP1L(NM_001127897.1):c.3385G>A (p.(Val1129Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914641" "0" "50" "16" "53675018" "53675018" "subst" "0" "01804" "RPGRIP1L_000148" "g.53675018G>A" "" "" "" "RPGRIP1L(NM_001127897.1):c.2885C>T (p.(Pro962Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914642" "0" "30" "16" "53692694" "53692694" "subst" "0.00317372" "02326" "RPGRIP1L_000011" "g.53692694A>G" "" "" "" "RPGRIP1L(NM_001127897.1):c.1340T>C (p.(Leu447Ser)), RPGRIP1L(NM_001308334.3):c.1340T>C (p.L447S), RPGRIP1L(NM_015272.4):c.1340T>C (p.L447S), RPGRIP..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914643" "0" "30" "16" "53730170" "53730170" "subst" "0.00122632" "02326" "RPGRIP1L_000149" "g.53730170T>C" "" "" "" "RPGRIP1L(NM_015272.5):c.123A>G (p.A41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926302" "0" "30" "16" "53726025" "53726025" "subst" "0.000320924" "02326" "RPGRIP1L_000150" "g.53726025C>T" "" "" "" "RPGRIP1L(NM_015272.5):c.482G>A (p.R161H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926303" "0" "30" "16" "53730087" "53730087" "subst" "0.000292421" "01804" "RPGRIP1L_000151" "g.53730087C>T" "" "" "" "RPGRIP1L(NM_001127897.1):c.206G>A (p.(Arg69His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930619" "0" "30" "16" "53692694" "53692694" "subst" "0.00317372" "01804" "RPGRIP1L_000011" "g.53692694A>G" "" "" "" "RPGRIP1L(NM_001127897.1):c.1340T>C (p.(Leu447Ser)), RPGRIP1L(NM_001308334.3):c.1340T>C (p.L447S), RPGRIP1L(NM_015272.4):c.1340T>C (p.L447S), RPGRIP..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950679" "0" "30" "16" "53682918" "53682918" "subst" "3.24921E-5" "02330" "RPGRIP1L_000156" "g.53682918C>T" "" "" "" "RPGRIP1L(NM_015272.5):c.2262G>A (p.G754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950680" "0" "30" "16" "53706850" "53706850" "subst" "1.62951E-5" "01804" "RPGRIP1L_000157" "g.53706850G>A" "" "" "" "RPGRIP1L(NM_001127897.1):c.961C>T (p.(Arg321Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951858" "3" "90" "16" "53726113" "53726113" "subst" "0" "00006" "RPGRIP1L_000013" "g.53726113T>A" "" "{PMID:Delous 2007:17558409}" "" "" "" "Germline" "yes" "" "0" "" "" "g.53692201T>A" "" "pathogenic (recessive)" "" "0000951859" "3" "90" "16" "53726113" "53726113" "subst" "0" "00006" "RPGRIP1L_000013" "g.53726113T>A" "" "{PMID:Delous 2007:17558409}" "" "" "" "Germline" "yes" "" "0" "" "" "g.53692201T>A" "" "pathogenic (recessive)" "" "0000951860" "11" "90" "16" "53705492" "53705492" "subst" "0" "00006" "RPGRIP1L_000004" "g.53705492G>A" "" "{PMID:Delous 2007:17558409}" "" "" "" "Germline" "" "" "0" "" "" "g.53671580G>A" "" "pathogenic (recessive)" "" "0000951861" "21" "90" "16" "53679606" "53679606" "subst" "2.44027E-5" "00006" "RPGRIP1L_000005" "g.53679606G>A" "" "{PMID:Delous 2007:17558409}" "" "" "" "Germline" "" "" "0" "" "" "g.53645694G>A" "" "pathogenic (recessive)" "" "0000951862" "21" "90" "16" "53720424" "53720424" "subst" "2.84694E-5" "00006" "RPGRIP1L_000152" "g.53720424T>A" "" "{PMID:Delous 2007:17558409}" "" "" "" "Germline" "" "" "0" "" "" "g.53686512T>A" "" "pathogenic (recessive)" "" "0000951863" "11" "90" "16" "53686756" "53686756" "subst" "6.11481E-5" "00006" "RPGRIP1L_000009" "g.53686756T>G" "" "{PMID:Delous 2007:17558409}" "" "" "" "Germline" "" "" "0" "" "" "g.53652844T>G" "" "pathogenic (recessive)" "" "0000951866" "10" "90" "16" "53720364" "53720364" "subst" "4.07063E-6" "00006" "RPGRIP1L_000153" "g.53720364G>A" "" "{PMID:Delous 2007:17558409}" "" "" "" "Germline" "" "" "0" "" "" "g.53686452G>A" "" "pathogenic (recessive)" "" "0000951867" "21" "90" "16" "53686756" "53686756" "subst" "6.11481E-5" "00006" "RPGRIP1L_000009" "g.53686756T>G" "" "{PMID:Delous 2007:17558409}" "" "" "" "Germline" "" "" "0" "" "" "g.53652844T>G" "" "pathogenic (recessive)" "" "0000951868" "3" "90" "16" "53686516" "53686516" "subst" "0" "00006" "RPGRIP1L_000154" "g.53686516C>G" "" "{PMID:Delous 2007:17558409}" "" "" "" "Germline" "yes" "" "0" "" "" "g.53652604C>G" "" "pathogenic (recessive)" "" "0000951869" "3" "90" "16" "53686516" "53686516" "subst" "0" "00006" "RPGRIP1L_000154" "g.53686516C>G" "" "{PMID:Delous 2007:17558409}" "" "" "" "Germline" "yes" "" "0" "" "" "g.53652604C>G" "" "pathogenic (recessive)" "" "0000951870" "1" "90" "16" "53686569" "53686569" "subst" "0.000788849" "00006" "RPGRIP1L_000085" "g.53686569G>A" "" "{PMID:Delous 2007:17558409}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.53652657G>A" "" "pathogenic (recessive)" "" "0000951871" "21" "90" "16" "53644894" "53644894" "del" "0" "00006" "RPGRIP1L_000155" "g.53644894del" "" "{PMID:Delous 2007:17558409}" "" "3686delA" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.53610982del" "" "pathogenic (recessive)" "" "0000958956" "0" "50" "16" "53730122" "53730122" "subst" "0.000540066" "00006" "RPGRIP1L_000104" "g.53730122C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.53696210C>A" "" "VUS" "ACMG" "0000959247" "0" "90" "16" "53686549" "53686549" "subst" "6.9145E-5" "00006" "RPGRIP1L_000113" "g.53686549G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.53652637G>A" "" "pathogenic (recessive)" "ACMG" "0000959248" "0" "50" "16" "53674971" "53674971" "subst" "6.5171E-5" "00006" "RPGRIP1L_000158" "g.53674971C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.53641059C>T" "" "VUS" "ACMG" "0000959395" "0" "50" "16" "53721779" "53721779" "subst" "0.000305198" "00006" "RPGRIP1L_000102" "g.53721779T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.53687867T>C" "" "VUS" "ACMG" "0000968397" "0" "30" "16" "53706851" "53706851" "subst" "0.00010996" "02326" "RPGRIP1L_000159" "g.53706851C>T" "" "" "" "RPGRIP1L(NM_015272.5):c.960G>A (p.Q320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968398" "0" "30" "16" "53730187" "53730187" "subst" "4.06062E-6" "02326" "RPGRIP1L_000160" "g.53730187T>C" "" "" "" "RPGRIP1L(NM_015272.5):c.106A>G (p.M36V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981937" "0" "50" "16" "53639522" "53639522" "subst" "0.000549164" "01804" "RPGRIP1L_000006" "g.53639522G>A" "" "" "" "RPGRIP1L(NM_015272.5):c.3706C>T (p.R1236C, p.(Arg1236Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981938" "0" "90" "16" "53652996" "53652997" "del" "0" "01804" "RPGRIP1L_000161" "g.53652996_53652997del" "" "" "" "RPGRIP1L(NM_015272.5):c.3558_3559del (p.(Pro1187ArgfsTer15))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981939" "0" "30" "16" "53656168" "53656168" "subst" "0.00800855" "02330" "RPGRIP1L_000162" "g.53656168T>C" "" "" "" "RPGRIP1L(NM_015272.5):c.3395A>G (p.Q1132R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981940" "0" "30" "16" "53672328" "53672328" "subst" "8.1674E-6" "01804" "RPGRIP1L_000163" "g.53672328T>C" "" "" "" "RPGRIP1L(NM_015272.5):c.2959-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981941" "0" "90" "16" "53686756" "53686756" "subst" "6.11481E-5" "01804" "RPGRIP1L_000009" "g.53686756T>G" "" "" "" "RPGRIP1L(NM_015272.4):c.1843A>C (p.T615P), RPGRIP1L(NM_015272.5):c.1843A>C (p.(Thr615Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981942" "0" "50" "16" "53706779" "53706779" "subst" "1.22199E-5" "01804" "RPGRIP1L_000164" "g.53706779T>G" "" "" "" "RPGRIP1L(NM_015272.5):c.1029+3A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981943" "0" "30" "16" "53729243" "53729243" "subst" "0" "01804" "RPGRIP1L_000165" "g.53729243A>G" "" "" "" "RPGRIP1L(NM_001328422.2):c.358T>C (p.(Cys120Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981944" "0" "30" "16" "53729352" "53729352" "subst" "0" "01804" "RPGRIP1L_000166" "g.53729352T>A" "" "" "" "RPGRIP1L(NM_001328422.2):c.249A>T (p.(Arg83Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001010128" "3" "90" "16" "53697252" "53697252" "subst" "0" "00006" "RPGRIP1L_000167" "g.53697252C>G" "" "{PMID:Dekker 2023:36669495}" "" "" "pseudoexon inclusion intron 10" "Germline" "" "" "0" "" "" "g.53663340C>G" "" "pathogenic (recessive)" "" "0001026720" "0" "50" "16" "53653005" "53653005" "subst" "0.00962811" "01943" "RPGRIP1L_000012" "g.53653005G>C" "" "" "" "RPGRIP1L(NM_001127897.1):c.3308C>G (p.(Ala1103Gly)), RPGRIP1L(NM_015272.4):c.3548C>G (p.A1183G), RPGRIP1L(NM_015272.5):c.3548C>G (p.A1183G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026721" "0" "90" "16" "53706825" "53706826" "del" "0" "02326" "RPGRIP1L_000051" "g.53706825_53706826del" "" "" "" "RPGRIP1L(NM_015272.4):c.986_987delAA (p.K329Tfs*9), RPGRIP1L(NM_015272.5):c.986_987delAA (p.K329Tfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001041175" "0" "50" "16" "53636097" "53636097" "subst" "6.13577E-5" "01804" "RPGRIP1L_000133" "g.53636097A>G" "" "" "" "RPGRIP1L(NM_015272.4):c.3839T>C (p.F1280S), RPGRIP1L(NM_015272.5):c.3839T>C (p.(Phe1280Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041176" "0" "50" "16" "53671648" "53671648" "subst" "8.57185E-5" "01804" "RPGRIP1L_000168" "g.53671648G>A" "" "" "" "RPGRIP1L(NM_015272.5):c.3179C>T (p.(Ser1060Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041177" "0" "50" "16" "53675301" "53675301" "subst" "5.2861E-5" "01804" "RPGRIP1L_000169" "g.53675301T>G" "" "" "" "RPGRIP1L(NM_015272.5):c.2770A>C (p.(Ser924Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041178" "0" "70" "16" "53675382" "53675382" "dup" "0" "01804" "RPGRIP1L_000170" "g.53675382dup" "" "" "" "RPGRIP1L(NM_015272.5):c.2691dup (p.(Glu898*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001041179" "0" "50" "16" "53679836" "53679836" "subst" "0" "01804" "RPGRIP1L_000171" "g.53679836G>C" "" "" "" "RPGRIP1L(NM_015272.5):c.2384C>G (p.(Thr795Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041180" "0" "70" "16" "53682980" "53682980" "subst" "2.03098E-5" "01804" "RPGRIP1L_000172" "g.53682980G>A" "" "" "" "RPGRIP1L(NM_015272.5):c.2200C>T (p.(Arg734*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001041181" "0" "90" "16" "53686549" "53686549" "subst" "6.9145E-5" "01804" "RPGRIP1L_000113" "g.53686549G>A" "" "" "" "RPGRIP1L(NM_015272.5):c.2050C>T (p.(Gln684Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001041182" "0" "50" "16" "53686783" "53686783" "subst" "3.26819E-5" "01804" "RPGRIP1L_000173" "g.53686783G>C" "" "" "" "RPGRIP1L(NM_015272.5):c.1816C>G (p.(Leu606Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041183" "0" "50" "16" "53706849" "53706849" "subst" "0.000167002" "01804" "RPGRIP1L_000108" "g.53706849C>T" "" "" "" "RPGRIP1L(NM_015272.5):c.962G>A (p.(Arg321His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041184" "0" "50" "16" "53709023" "53709023" "subst" "8.18652E-6" "01804" "RPGRIP1L_000174" "g.53709023C>T" "" "" "" "RPGRIP1L(NM_015272.5):c.788G>A (p.(Arg263Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041185" "0" "50" "16" "53730149" "53730149" "subst" "3.65456E-5" "01804" "RPGRIP1L_000175" "g.53730149C>G" "" "" "" "RPGRIP1L(NM_015272.5):c.144G>C (p.(Glu48Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041186" "0" "50" "16" "53734617" "53734617" "subst" "0" "01804" "RPGRIP1L_000176" "g.53734617C>T" "" "" "" "RPGRIP1L(NM_015272.5):c.19G>A (p.(Glu7Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055588" "0" "50" "16" "53639489" "53639489" "subst" "3.25293E-5" "01804" "RPGRIP1L_000088" "g.53639489C>T" "" "" "" "RPGRIP1L(NM_015272.4):c.3739G>A (p.E1247K), RPGRIP1L(NM_015272.5):c.3739G>A (p.(Glu1247Lys), p.E1247K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055589" "0" "90" "16" "53652996" "53652997" "dup" "0" "01804" "RPGRIP1L_000177" "g.53652996_53652997dup" "" "" "" "RPGRIP1L(NM_015272.5):c.3558_3559dup (p.(Pro1187Hisfs*21))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001055590" "0" "30" "16" "53674945" "53674945" "subst" "0" "01804" "RPGRIP1L_000178" "g.53674945A>G" "" "" "" "RPGRIP1L(NM_015272.5):c.2958T>C (p.(Asp986=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055591" "0" "50" "16" "53691372" "53691372" "subst" "8.17254E-6" "01804" "RPGRIP1L_000179" "g.53691372T>C" "" "" "" "RPGRIP1L(NM_015272.5):c.1574A>G (p.(Asp525Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055592" "0" "50" "16" "53726220" "53726220" "subst" "3.65556E-5" "01804" "RPGRIP1L_000180" "g.53726220C>T" "" "" "" "RPGRIP1L(NM_015272.5):c.287G>A (p.(Gly96Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RPGRIP1L ## Count = 264 "{{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}}" "0000000642" "00000083" "50" "3548" "0" "3548" "0" "c.3548C>G" "r.(?)" "p.(Ala1183Gly)" "24" "0000016598" "00000083" "90" "394" "0" "394" "0" "c.394A>T" "r.(394a>u)" "p.(Arg132*)" "4" "0000016599" "00000083" "90" "1033" "0" "1033" "0" "c.1033C>T" "r.(1033c>u)" "p.(Gln345*)" "9" "0000016600" "00000083" "90" "2614" "0" "2614" "0" "c.2614C>T" "r.(2614c>u)" "p.(Gln872*)" "17" "0000016601" "00000083" "99" "3706" "0" "3706" "0" "c.3706C>T" "r.(3706c>u)" "p.(Arg1236Cys)" "26" "0000016602" "00000083" "77" "1829" "0" "1829" "0" "c.1829A>C" "r.(1829a>c)" "p.(His610Pro)" "15" "0000016603" "00000083" "99" "723" "0" "726" "0" "c.723_726del" "r.(723_726del)" "p.(Asn241Lysfs*25)" "6" "0000052288" "00000083" "70" "1843" "0" "1843" "0" "c.1843A>C" "r.(?)" "p.(Thr615Pro)" "15" "0000052289" "00000083" "70" "712" "0" "712" "0" "c.712del" "r.(?)" "p.(Arg238Glufs*29)" "6" "0000060484" "00000083" "50" "2240" "0" "2240" "0" "c.2240G>A" "r.(?)" "p.(Arg747Gln)" "16" "0000060485" "00000083" "50" "972" "0" "972" "0" "c.972C>G" "r.(?)" "p.(Cys324Trp)" "8" "0000060486" "00000083" "50" "1649" "0" "1649" "0" "c.1649A>G" "r.(?)" "p.(Gln550Arg)" "14" "0000060487" "00000083" "50" "1649" "0" "1649" "0" "c.1649A>G" "r.(?)" "p.(Gln550Arg)" "14" "0000247362" "00000083" "10" "1072" "0" "1072" "0" "c.1072T>C" "r.(?)" "p.(Leu358=)" "" "0000247363" "00000083" "10" "1340" "0" "1340" "0" "c.1340T>C" "r.(?)" "p.(Leu447Ser)" "" "0000247392" "00000083" "30" "2807" "0" "2807" "0" "c.2807T>G" "r.(?)" "p.(Ile936Ser)" "" "0000247395" "00000083" "30" "2643" "0" "2643" "0" "c.2643T>A" "r.(?)" "p.(Asn881Lys)" "" "0000249209" "00000083" "10" "632" "16" "632" "16" "c.632+16del" "r.(=)" "p.(=)" "" "0000250735" "00000083" "30" "3295" "-8" "3295" "-8" "c.3295-8del" "r.(=)" "p.(=)" "" "0000250759" "00000083" "10" "2959" "-15" "2959" "-15" "c.2959-15T>C" "r.(=)" "p.(=)" "" "0000251592" "00000083" "10" "3061" "-85" "3061" "-85" "c.3061-85T>A" "r.(=)" "p.(=)" "" "0000251593" "00000083" "10" "1030" "-58" "1030" "-58" "c.1030-58del" "r.(=)" "p.(=)" "" "0000252281" "00000083" "30" "530" "-15" "530" "-15" "c.530-15T>C" "r.(=)" "p.(=)" "" "0000252629" "00000083" "90" "2304" "2" "2304" "2" "c.2304+2T>C" "r.spl?" "p.?" "" "0000253087" "00000083" "10" "3295" "-8" "3295" "-8" "c.3295-8del" "r.(=)" "p.(=)" "" "0000253978" "00000083" "30" "2959" "-15" "2959" "-15" "c.2959-15T>C" "r.(=)" "p.(=)" "" "0000254144" "00000083" "30" "1072" "0" "1072" "0" "c.1072T>C" "r.(?)" "p.(Leu358=)" "" "0000254159" "00000083" "30" "1340" "0" "1340" "0" "c.1340T>C" "r.(?)" "p.(Leu447Ser)" "" "0000256085" "00000083" "50" "1397" "0" "1397" "0" "c.1397T>G" "r.(?)" "p.(Ile466Arg)" "" "0000295035" "00000083" "10" "1165" "0" "1165" "0" "c.1165A>G" "r.(?)" "p.(Ile389Val)" "" "0000295036" "00000083" "30" "1558" "0" "1558" "0" "c.1558C>G" "r.(?)" "p.(His520Asp)" "" "0000295037" "00000083" "30" "1810" "0" "1810" "0" "c.1810G>A" "r.(?)" "p.(Glu604Lys)" "" "0000295038" "00000083" "30" "2240" "0" "2240" "0" "c.2240G>A" "r.(?)" "p.(Arg747Gln)" "" "0000295039" "00000083" "10" "3624" "0" "3624" "0" "c.3624C>T" "r.(?)" "p.(Tyr1208=)" "" "0000295040" "00000083" "30" "3706" "0" "3706" "0" "c.3706C>T" "r.(?)" "p.(Arg1236Cys)" "" "0000295041" "00000083" "10" "529" "17" "529" "17" "c.529+17G>A" "r.(=)" "p.(=)" "" "0000295042" "00000083" "30" "532" "0" "532" "0" "c.532A>G" "r.(?)" "p.(Ile178Val)" "" "0000295043" "00000083" "30" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Val214Ile)" "" "0000295044" "00000083" "30" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Gly220Asp)" "" "0000295045" "00000083" "10" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Ala229Thr)" "" "0000297739" "00000083" "90" "1555" "0" "1555" "0" "c.1555C>T" "r.(?)" "p.(Gln519Ter)" "" "0000301492" "00000083" "10" "1699" "133" "1699" "133" "c.1699+133A>G" "r.(=)" "p.(=)" "" "0000301493" "00000083" "10" "2231" "0" "2231" "0" "c.2231G>T" "r.(?)" "p.(Arg744Leu)" "" "0000301494" "00000083" "10" "2959" "-95" "2959" "-95" "c.2959-95A>G" "r.(=)" "p.(=)" "" "0000301495" "00000083" "10" "3220" "98" "3220" "98" "c.3220+98G>A" "r.(=)" "p.(=)" "" "0000301496" "00000083" "10" "3548" "0" "3548" "0" "c.3548C>G" "r.(?)" "p.(Ala1183Gly)" "" "0000301497" "00000083" "10" "3701" "90" "3701" "90" "c.3701+90G>A" "r.(=)" "p.(=)" "" "0000301498" "00000083" "10" "3790" "0" "3790" "0" "c.3790G>A" "r.(?)" "p.(Asp1264Asn)" "" "0000301499" "00000083" "10" "529" "64" "529" "64" "c.529+64C>A" "r.(=)" "p.(=)" "" "0000301500" "00000083" "10" "529" "64" "529" "64" "c.529+64del" "r.(=)" "p.(=)" "" "0000301501" "00000083" "30" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Ala229Thr)" "" "0000307346" "00000083" "30" "1085" "0" "1085" "0" "c.1085A>G" "r.(?)" "p.(Tyr362Cys)" "" "0000307347" "00000083" "10" "1341" "0" "1341" "0" "c.1341G>A" "r.(?)" "p.(Leu447=)" "" "0000307348" "00000083" "50" "1419" "0" "1419" "0" "c.1419A>C" "r.(?)" "p.(Lys473Asn)" "" "0000307350" "00000083" "90" "1843" "0" "1843" "0" "c.1843A>C" "r.(?)" "p.(Thr615Pro)" "" "0000307351" "00000083" "30" "1867" "0" "1867" "0" "c.1867G>T" "r.(?)" "p.(Ala623Ser)" "" "0000307352" "00000083" "50" "2060" "0" "2060" "0" "c.2060G>A" "r.(?)" "p.(Ser687Asn)" "" "0000307353" "00000083" "30" "2153" "-4" "2153" "-4" "c.2153-4G>C" "r.spl?" "p.?" "" "0000307354" "00000083" "10" "2231" "0" "2231" "0" "c.2231G>A" "r.(?)" "p.(Arg744Gln)" "" "0000307355" "00000083" "30" "2399" "0" "2399" "0" "c.2399A>C" "r.(?)" "p.(Asn800Thr)" "" "0000307356" "00000083" "10" "3073" "0" "3073" "0" "c.3073G>A" "r.(?)" "p.(Gly1025Ser)" "" "0000307357" "00000083" "10" "3428" "0" "3428" "0" "c.3428C>G" "r.(?)" "p.(Thr1143Ser)" "" "0000307358" "00000083" "30" "3624" "0" "3624" "0" "c.3624C>T" "r.(?)" "p.(Tyr1208=)" "" "0000307359" "00000083" "50" "3512" "0" "3512" "0" "c.3512G>A" "r.(?)" "p.(Arg1171Gln)" "" "0000307360" "00000083" "30" "3555" "0" "3555" "0" "c.3555G>A" "r.(?)" "p.(Glu1185=)" "" "0000307361" "00000083" "10" "3790" "0" "3790" "0" "c.3790G>A" "r.(?)" "p.(Asp1264Asn)" "" "0000307362" "00000083" "30" "3824" "0" "3824" "0" "c.3824A>G" "r.(?)" "p.(Gln1275Arg)" "" "0000307363" "00000083" "10" "3936" "0" "3936" "0" "c.3936C>T" "r.(?)" "p.(Asp1312=)" "" "0000307364" "00000083" "10" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Ala229Thr)" "" "0000307365" "00000083" "90" "712" "0" "712" "0" "c.712del" "r.(?)" "p.(Arg238GlufsTer29)" "" "0000307366" "00000083" "90" "986" "0" "987" "0" "c.986_987del" "r.(?)" "p.(Lys329ThrfsTer9)" "" "0000324781" "00000083" "50" "2813" "0" "2813" "0" "c.2813G>C" "r.(?)" "p.(Ser938Thr)" "" "0000324782" "00000083" "30" "1331" "0" "1331" "0" "c.1331G>A" "r.(?)" "p.(Arg444His)" "" "0000341822" "00000083" "50" "3809" "0" "3809" "0" "c.3809G>A" "r.(?)" "p.(Arg1270Lys)" "" "0000345046" "00000083" "90" "3202" "0" "3202" "0" "c.3202G>T" "r.(?)" "p.(Glu1068Ter)" "" "0000558440" "00000083" "10" "3701" "19" "3701" "19" "c.3701+19A>C" "r.(=)" "p.(=)" "" "0000558441" "00000083" "10" "3372" "0" "3372" "0" "c.3372C>T" "r.(?)" "p.(Ser1124=)" "" "0000558443" "00000083" "30" "3295" "-8" "3295" "-8" "c.3295-8del" "r.(=)" "p.(=)" "" "0000558444" "00000083" "10" "3294" "36" "3294" "36" "c.3294+36dup" "r.(=)" "p.(=)" "" "0000558445" "00000083" "30" "2997" "0" "2997" "0" "c.2997A>G" "r.(?)" "p.(Ser999=)" "" "0000558446" "00000083" "30" "2925" "0" "2925" "0" "c.2925A>G" "r.(?)" "p.(Val975=)" "" "0000558447" "00000083" "50" "2630" "0" "2630" "0" "c.2630T>C" "r.(?)" "p.(Ile877Thr)" "" "0000558448" "00000083" "30" "2240" "0" "2240" "0" "c.2240G>A" "r.(?)" "p.(Arg747Gln)" "" "0000558449" "00000083" "30" "2231" "0" "2231" "0" "c.2231G>A" "r.(?)" "p.(Arg744Gln)" "" "0000558450" "00000083" "50" "2180" "0" "2180" "0" "c.2180G>A" "r.(?)" "p.(Gly727Asp)" "" "0000558451" "00000083" "50" "1661" "0" "1661" "0" "c.1661T>A" "r.(?)" "p.(Leu554His)" "" "0000558452" "00000083" "90" "1603" "0" "1603" "0" "c.1603dup" "r.(?)" "p.(Arg535ProfsTer2)" "" "0000558453" "00000083" "30" "1156" "0" "1156" "0" "c.1156A>G" "r.(?)" "p.(Lys386Glu)" "" "0000558454" "00000083" "50" "949" "0" "949" "0" "c.949C>T" "r.(?)" "p.(Leu317Phe)" "" "0000558455" "00000083" "30" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Ala229Thr)" "" "0000558456" "00000083" "10" "530" "-15" "530" "-15" "c.530-15T>C" "r.(=)" "p.(=)" "" "0000558457" "00000083" "50" "418" "0" "418" "0" "c.418C>T" "r.(?)" "p.(Leu140Phe)" "" "0000558458" "00000083" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66Ter)" "" "0000558459" "00000083" "50" "167" "0" "167" "0" "c.167G>A" "r.(?)" "p.(Arg56His)" "" "0000616035" "00000083" "50" "2266" "0" "2266" "0" "c.2266A>G" "r.(?)" "p.(Ile756Val)" "" "0000616036" "00000083" "50" "2240" "0" "2240" "0" "c.2240G>A" "r.(?)" "p.(Arg747Gln)" "" "0000616037" "00000083" "30" "2153" "-4" "2153" "-4" "c.2153-4G>C" "r.spl?" "p.?" "" "0000616038" "00000083" "50" "1810" "0" "1810" "0" "c.1810G>A" "r.(?)" "p.(Glu604Lys)" "" "0000623485" "00000083" "30" "3562" "0" "3562" "0" "c.3562G>A" "r.(?)" "p.(Val1188Met)" "" "0000623486" "00000083" "30" "2673" "0" "2673" "0" "c.2673G>A" "r.(?)" "p.(Arg891=)" "" "0000623487" "00000083" "90" "2473" "0" "2473" "0" "c.2473dup" "r.(?)" "p.(His825ProfsTer2)" "" "0000623488" "00000083" "30" "2240" "0" "2240" "0" "c.2240G>A" "r.(?)" "p.(Arg747Gln)" "" "0000623489" "00000083" "30" "1103" "15" "1103" "15" "c.1103+15C>T" "r.(=)" "p.(=)" "" "0000649344" "00000083" "10" "3548" "0" "3548" "0" "c.3548C>G" "r.(?)" "p.(Ala1183Gly)" "" "0000649345" "00000083" "30" "2030" "0" "2030" "0" "c.2030C>T" "r.(?)" "p.(Thr677Ile)" "" "0000649346" "00000083" "30" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Ala229Thr)" "" "0000657868" "00000083" "30" "1734" "0" "1734" "0" "c.1734G>A" "r.(?)" "p.(Gln578=)" "" "0000669334" "00000083" "30" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Ala229Thr)" "" "0000680598" "00000083" "30" "3745" "0" "3745" "0" "c.3745G>T" "r.(?)" "p.(Asp1249Tyr)" "" "0000680599" "00000083" "30" "3739" "0" "3739" "0" "c.3739G>A" "r.(?)" "p.(Glu1247Lys)" "" "0000680600" "00000083" "10" "3295" "-8" "3295" "-8" "c.3295-8dup" "r.(=)" "p.(=)" "" "0000680601" "00000083" "30" "2327" "0" "2327" "0" "c.2327C>T" "r.(?)" "p.(Thr776Ile)" "" "0000680602" "00000083" "70" "1694" "0" "1695" "0" "c.1694_1695del" "r.(?)" "p.(Leu565ArgfsTer17)" "" "0000680603" "00000083" "30" "1165" "0" "1165" "0" "c.1165A>G" "r.(?)" "p.(Ile389Val)" "" "0000680604" "00000083" "50" "821" "0" "821" "0" "c.821A>T" "r.(?)" "p.(Gln274Leu)" "" "0000692089" "00000083" "30" "3312" "0" "3312" "0" "c.3312C>T" "r.(?)" "p.(Pro1104=)" "" "0000692090" "00000083" "10" "2807" "0" "2807" "0" "c.2807T>G" "r.(?)" "p.(Ile936Ser)" "" "0000692091" "00000083" "10" "532" "0" "532" "0" "c.532A>G" "r.(?)" "p.(Ile178Val)" "" "0000692092" "00000083" "30" "444" "0" "444" "0" "c.444T>C" "r.(?)" "p.(Thr148=)" "" "0000725833" "00000083" "30" "2673" "0" "2673" "0" "c.2673G>A" "r.(?)" "p.(Arg891=)" "" "0000725834" "00000083" "30" "2327" "0" "2327" "0" "c.2327C>G" "r.(?)" "p.(Thr776Ser)" "" "0000725835" "00000083" "50" "2196" "0" "2196" "0" "c.2196G>C" "r.(?)" "p.(Trp732Cys)" "" "0000725836" "00000083" "30" "2153" "-4" "2153" "-4" "c.2153-4G>C" "r.spl?" "p.?" "" "0000725837" "00000083" "30" "1944" "0" "1944" "0" "c.1944G>A" "r.(?)" "p.(Val648=)" "" "0000725838" "00000083" "50" "1660" "0" "1660" "0" "c.1660C>A" "r.(?)" "p.(Leu554Ile)" "" "0000725839" "00000083" "30" "1604" "0" "1604" "0" "c.1604G>A" "r.(?)" "p.(Arg535His)" "" "0000725840" "00000083" "30" "1072" "0" "1072" "0" "c.1072T>C" "r.(?)" "p.(Leu358=)" "" "0000725841" "00000083" "50" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156Cys)" "" "0000730057" "00000083" "90" "1649" "0" "1649" "0" "c.1649A>G" "r.(?)" "p.(Gln550Arg)" "" "0000730991" "00000083" "50" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Ala229Thr)" "" "0000731013" "00000083" "70" "171" "0" "171" "0" "c.171G>T" "r.(?)" "p.(Leu57Phe)" "" "0000731020" "00000083" "50" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Ala229Thr)" "" "0000731084" "00000083" "70" "628" "0" "628" "0" "c.628A>G" "r.(?)" "p.(Asn210Asp)" "" "0000731095" "00000083" "50" "2952" "0" "2952" "0" "c.2952G>C" "r.(?)" "p.(Gln984His)" "" "0000731096" "00000083" "50" "196" "0" "196" "0" "c.196C>A" "r.(?)" "p.(Gln66Lys)" "" "0000759771" "00000083" "90" "86" "-2" "86" "-2" "c.86-2A>G" "r.86_230del" "p.?" "" "0000759794" "00000083" "90" "231" "-2" "231" "-2" "c.231-2A>G" "r.231_529del" "p.?" "" "0000759800" "00000083" "90" "3116" "0" "3116" "0" "c.3116A>G" "r.(?)" "p.(Gln1039Arg)" "" "0000759801" "00000083" "90" "962" "0" "962" "0" "c.962G>A" "r.(?)" "p.(Arg321His)" "" "0000783516" "00000083" "90" "2413" "0" "2413" "0" "c.2413C>T" "r.(?)" "p.(Arg805*)" "" "0000783517" "00000083" "90" "2413" "0" "2413" "0" "c.2413C>T" "r.(?)" "p.(Arg805*)" "" "0000783518" "00000083" "90" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Gln684*)" "" "0000783519" "00000083" "90" "2305" "-1" "2305" "-1" "c.2305-1G>A" "r.spl?" "p.?" "" "0000783520" "00000083" "90" "1721" "0" "1721" "0" "c.1721del" "r.(?)" "p.(Tyr574Leufs*27)" "" "0000783521" "00000083" "90" "1132" "0" "1132" "0" "c.1132del" "r.(?)" "p.(Trp378Glyfs*3)" "" "0000783522" "00000083" "90" "2305" "-1" "2305" "-1" "c.2305-1G>A" "r.spl?" "p.?" "" "0000783523" "00000083" "90" "1243" "1" "1243" "1" "c.1243+1G>A" "r.spl?" "p.?" "" "0000783524" "00000083" "90" "3529" "0" "3529" "0" "c.3529C>T" "r.(?)" "p.(Arg1177*)" "" "0000783716" "00000083" "90" "1975" "0" "1975" "0" "c.1975T>C" "r.(?)" "p.(Ser659Pro)" "" "0000783717" "00000083" "90" "1975" "0" "1975" "0" "c.1975T>C" "r.(?)" "p.(Ser659Pro)" "" "0000783718" "00000083" "90" "1843" "0" "1843" "0" "c.1843A>C" "r.(?)" "p.(Thr615Pro)" "" "0000783719" "00000083" "90" "1707" "0" "1707" "0" "c.1707dup" "r.(?)" "p.(Asp571Glyfs*12)" "" "0000783720" "00000083" "90" "3701" "1" "3701" "1" "c.3701+1G>T" "r.spl?" "p.?" "" "0000783721" "00000083" "90" "1843" "0" "1843" "0" "c.1843A>C" "r.(?)" "p.(Thr615Pro)" "" "0000785420" "00000083" "50" "2231" "0" "2231" "0" "c.2231G>A" "r.(?)" "p.(Arg744Gln)" "" "0000785442" "00000083" "50" "2231" "0" "2231" "0" "c.2231G>A" "r.(?)" "p.(Arg744Gln)" "" "0000785444" "00000083" "50" "2231" "0" "2231" "0" "c.2231G>A" "r.(?)" "p.(Arg744Gln)" "" "0000788449" "00000083" "50" "1331" "0" "1331" "0" "c.1331G>A" "r.(?)" "p.(Arg444His)" "11" "0000791800" "00000083" "70" "3790" "0" "3790" "0" "c.3790G>T" "r.(?)" "p.(Asp1264Tyr)" "" "0000791878" "00000083" "70" "1340" "0" "1340" "0" "c.1340T>C" "r.(?)" "p.(Leu447Ser)" "11" "0000791879" "00000083" "70" "671" "0" "677" "0" "c.671_677del" "r.(?)" "p.(Gln224Glyfs*7)" "" "0000791961" "00000083" "90" "1829" "0" "1829" "0" "c.1829A>C" "r.(?)" "p.(His610Pro)" "15" "0000791962" "00000083" "90" "721" "0" "724" "0" "c.721_724delAATG" "r.(?)" "p.(Asn241Lysfs*25)" "6" "0000791977" "00000083" "90" "1177" "0" "1177" "0" "c.1177G>A" "r.(?)" "p.(Glu393Lys)" "10" "0000792004" "00000083" "90" "1964" "0" "1964" "0" "c.1964A>G" "r.(?)" "p.(Tyr655Cys)" "15" "0000792205" "00000083" "50" "2450" "0" "2450" "0" "c.2450A>G" "r.(?)" "p.(Tyr817Cys)" "17" "0000793978" "00000083" "90" "1649" "0" "1649" "0" "c.1649A>G" "r.(?)" "p.(Gln550Arg)" "14" "0000796158" "00000083" "10" "3352" "0" "3352" "0" "c.3352T>C" "r.(?)" "p.(Phe1118Leu)" "23" "0000796163" "00000083" "50" "1810" "0" "1810" "0" "c.1810G>A" "r.(?)" "p.(Glu604Lys)" "15" "0000807442" "00000083" "30" "3372" "0" "3372" "0" "c.3372C>T" "r.(?)" "p.(Ser1124=)" "" "0000807443" "00000083" "30" "2914" "0" "2914" "0" "c.2914G>A" "r.(?)" "p.(Asp972Asn)" "" "0000807444" "00000083" "30" "2240" "0" "2240" "0" "c.2240G>A" "r.(?)" "p.(Arg747Gln)" "" "0000807445" "00000083" "50" "1810" "0" "1810" "0" "c.1810G>A" "r.(?)" "p.(Glu604Lys)" "" "0000807446" "00000083" "50" "1682" "0" "1682" "0" "c.1682G>A" "r.(?)" "p.(Arg561His)" "" "0000807447" "00000083" "30" "1335" "0" "1335" "0" "c.1335A>T" "r.(?)" "p.(Ile445=)" "" "0000807448" "00000083" "50" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Arg47His)" "" "0000818266" "00000083" "90" "1340" "0" "1340" "0" "c.1340T>C" "r.(?)" "p.(Leu447Ser)" "11" "0000818267" "00000083" "90" "3790" "0" "3790" "0" "c.3790G>T" "r.(?)" "p.(Asp1264Tyr)" "26" "0000818268" "00000083" "90" "671" "0" "677" "0" "c.671_677del" "r.(?)" "p.(Glu224Glyfs*7)" "6" "0000834104" "00000083" "50" "3830" "0" "3830" "0" "c.3830T>G" "r.(?)" "p.(Ile1277Ser)" "26" "0000834105" "00000083" "50" "2180" "0" "2180" "0" "c.2180G>A" "r.(?)" "p.(Gly727Asp)" "16" "0000834163" "00000083" "50" "1351" "-11" "1351" "-11" "c.1351-11A>G" "r.spl" "p.?" "11i" "0000846501" "00000083" "70" "1582" "-1" "1582" "-1" "c.1582-1G>C" "r.(?)" "p.(?)" "" "0000847311" "00000083" "70" "1649" "0" "1649" "0" "c.1649A>G" "r.(?)" "p.(Gln550Arg)" "" "0000854542" "00000083" "30" "3781" "0" "3781" "0" "c.3781G>A" "r.(?)" "p.(Asp1261Asn)" "" "0000854543" "00000083" "30" "3312" "0" "3312" "0" "c.3312C>T" "r.(?)" "p.(Pro1104=)" "" "0000854544" "00000083" "50" "1496" "0" "1496" "0" "c.1496A>C" "r.(?)" "p.(Gln499Pro)" "" "0000854545" "00000083" "50" "1156" "0" "1156" "0" "c.1156A>G" "r.(?)" "p.(Lys386Glu)" "" "0000854546" "00000083" "30" "324" "0" "324" "0" "c.324G>C" "r.(?)" "p.(Met108Ile)" "" "0000854547" "00000083" "50" "-393" "0" "-393" "0" "c.-393T>C" "r.(?)" "p.(=)" "" "0000864833" "00000083" "30" "3839" "0" "3839" "0" "c.3839T>C" "r.(?)" "p.(Phe1280Ser)" "" "0000864834" "00000083" "30" "3777" "0" "3777" "0" "c.3777C>T" "r.(?)" "p.(His1259=)" "" "0000864835" "00000083" "30" "3548" "0" "3548" "0" "c.3548C>G" "r.(?)" "p.(Ala1183Gly)" "" "0000864836" "00000083" "30" "2682" "0" "2682" "0" "c.2682A>G" "r.(?)" "p.(Ser894=)" "" "0000864837" "00000083" "30" "2682" "0" "2682" "0" "c.2682A>G" "r.(?)" "p.(Ser894=)" "" "0000864838" "00000083" "30" "2103" "0" "2103" "0" "c.2103C>T" "r.(?)" "p.(His701=)" "" "0000864839" "00000083" "30" "1960" "0" "1960" "0" "c.1960G>A" "r.(?)" "p.(Glu654Lys)" "" "0000864840" "00000083" "50" "1904" "0" "1904" "0" "c.1904A>G" "r.(?)" "p.(Tyr635Cys)" "" "0000873919" "00000083" "10" "1340" "0" "1340" "0" "c.1340T>C" "r.(?)" "p.(Leu447Ser)" "" "0000893052" "00000083" "30" "3780" "0" "3780" "0" "c.3780C>T" "r.(?)" "p.(Val1260=)" "" "0000893053" "00000083" "30" "3745" "0" "3745" "0" "c.3745G>T" "r.(?)" "p.(Asp1249Tyr)" "" "0000893054" "00000083" "30" "3739" "0" "3739" "0" "c.3739G>A" "r.(?)" "p.(Glu1247Lys)" "" "0000893055" "00000083" "30" "2874" "8" "2874" "8" "c.2874+8T>C" "r.(=)" "p.(=)" "" "0000893056" "00000083" "30" "2532" "0" "2532" "0" "c.2532C>T" "r.(?)" "p.(Phe844=)" "" "0000893057" "00000083" "30" "2399" "0" "2399" "0" "c.2399A>C" "r.(?)" "p.(Asn800Thr)" "" "0000893058" "00000083" "30" "2153" "-4" "2153" "-4" "c.2153-4G>C" "r.spl?" "p.?" "" "0000893059" "00000083" "30" "2030" "0" "2030" "0" "c.2030C>T" "r.(?)" "p.(Thr677Ile)" "" "0000893060" "00000083" "30" "1165" "0" "1165" "0" "c.1165A>G" "r.(?)" "p.(Ile389Val)" "" "0000893061" "00000083" "30" "633" "-14" "633" "-14" "c.633-14G>C" "r.(=)" "p.(=)" "" "0000914640" "00000083" "30" "3625" "0" "3625" "0" "c.3625G>A" "r.(?)" "p.(Val1209Met)" "" "0000914641" "00000083" "50" "2885" "0" "2885" "0" "c.2885C>T" "r.(?)" "p.(Pro962Leu)" "" "0000914642" "00000083" "30" "1340" "0" "1340" "0" "c.1340T>C" "r.(?)" "p.(Leu447Ser)" "" "0000914643" "00000083" "30" "123" "0" "123" "0" "c.123A>G" "r.(?)" "p.(Ala41=)" "" "0000926302" "00000083" "30" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Arg161His)" "" "0000926303" "00000083" "30" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Arg69His)" "" "0000930619" "00000083" "30" "1340" "0" "1340" "0" "c.1340T>C" "r.(?)" "p.(Leu447Ser)" "" "0000950679" "00000083" "30" "2262" "0" "2262" "0" "c.2262G>A" "r.(?)" "p.(=)" "" "0000950680" "00000083" "30" "961" "0" "961" "0" "c.961C>T" "r.(?)" "p.(Arg321Cys)" "" "0000951858" "00000083" "90" "394" "0" "394" "0" "c.394A>T" "r.(?)" "p.(Arg132*)" "" "0000951859" "00000083" "90" "394" "0" "394" "0" "c.394A>T" "r.(?)" "p.(Arg132*)" "" "0000951860" "00000083" "90" "1033" "0" "1033" "0" "c.1033C>T" "r.(?)" "p.(Gln345*)" "" "0000951861" "00000083" "90" "2614" "0" "2614" "0" "c.2614C>T" "r.(?)" "p.(Gln872*)" "" "0000951862" "00000083" "90" "697" "0" "697" "0" "c.697A>T" "r.(?)" "p.(Lys233*)" "" "0000951863" "00000083" "90" "1843" "0" "1843" "0" "c.1843A>C" "r.(?)" "p.(Thr615Pro)" "" "0000951866" "00000083" "90" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(Gln253*)" "" "0000951867" "00000083" "90" "1843" "0" "1843" "0" "c.1843A>C" "r.(?)" "p.(Thr615Pro)" "" "0000951868" "00000083" "90" "2083" "0" "2083" "0" "c.2083G>C" "r.(?)" "p.(Ala695Pro)" "" "0000951869" "00000083" "90" "2083" "0" "2083" "0" "c.2083G>C" "r.(?)" "p.(Ala695Pro)" "" "0000951870" "00000083" "90" "2030" "0" "2030" "0" "c.2030C>T" "r.(?)" "p.(Thr677Ile)" "" "0000951871" "00000083" "90" "3686" "0" "3686" "0" "c.3686del" "r.(?)" "p.(Glu1229Glyfs*66)" "" "0000958956" "00000083" "50" "171" "0" "171" "0" "c.171G>T" "r.(?)" "p.(Leu57Phe)" "" "0000959247" "00000083" "90" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Gln684Ter)" "" "0000959248" "00000083" "50" "2932" "0" "2932" "0" "c.2932G>A" "r.(?)" "p.(Val978Met)" "" "0000959395" "00000083" "50" "628" "0" "628" "0" "c.628A>G" "r.(?)" "p.(Asn210Asp)" "" "0000968397" "00000083" "30" "960" "0" "960" "0" "c.960G>A" "r.(?)" "p.(=)" "" "0000968398" "00000083" "30" "106" "0" "106" "0" "c.106A>G" "r.(?)" "p.(Met36Val)" "" "0000981937" "00000083" "50" "3706" "0" "3706" "0" "c.3706C>T" "r.(?)" "p.(Arg1236Cys)" "" "0000981938" "00000083" "90" "3558" "0" "3559" "0" "c.3558_3559del" "r.(?)" "p.(Pro1187Argfs*15)" "" "0000981939" "00000083" "30" "3395" "0" "3395" "0" "c.3395A>G" "r.(?)" "p.(Gln1132Arg)" "" "0000981940" "00000083" "30" "2959" "-5" "2959" "-5" "c.2959-5A>G" "r.spl?" "p.?" "" "0000981941" "00000083" "90" "1843" "0" "1843" "0" "c.1843A>C" "r.(?)" "p.(Thr615Pro)" "" "0000981942" "00000083" "50" "1029" "3" "1029" "3" "c.1029+3A>C" "r.spl?" "p.?" "" "0000981943" "00000083" "30" "230" "820" "230" "820" "c.230+820T>C" "r.(=)" "p.(=)" "" "0000981944" "00000083" "30" "230" "711" "230" "711" "c.230+711A>T" "r.(=)" "p.(=)" "" "0001010128" "00000083" "90" "1243" "1530" "1243" "1530" "c.1243+1530G>C" "r.1243_1244ins1243+1459_1243+1532" "p.Gln416IlefsTer55" "" "0001026720" "00000083" "50" "3548" "0" "3548" "0" "c.3548C>G" "r.(?)" "p.(Ala1183Gly)" "" "0001026721" "00000083" "90" "986" "0" "987" "0" "c.986_987del" "r.(?)" "p.(Lys329ThrfsTer9)" "" "0001041175" "00000083" "50" "3839" "0" "3839" "0" "c.3839T>C" "r.(?)" "p.(Phe1280Ser)" "" "0001041176" "00000083" "50" "3179" "0" "3179" "0" "c.3179C>T" "r.(?)" "p.(Ser1060Phe)" "" "0001041177" "00000083" "50" "2770" "0" "2770" "0" "c.2770A>C" "r.(?)" "p.(Ser924Arg)" "" "0001041178" "00000083" "70" "2691" "0" "2691" "0" "c.2691dup" "r.(?)" "p.(Glu898*)" "" "0001041179" "00000083" "50" "2384" "0" "2384" "0" "c.2384C>G" "r.(?)" "p.(Thr795Arg)" "" "0001041180" "00000083" "70" "2200" "0" "2200" "0" "c.2200C>T" "r.(?)" "p.(Arg734*)" "" "0001041181" "00000083" "90" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Gln684*)" "" "0001041182" "00000083" "50" "1816" "0" "1816" "0" "c.1816C>G" "r.(?)" "p.(Leu606Val)" "" "0001041183" "00000083" "50" "962" "0" "962" "0" "c.962G>A" "r.(?)" "p.(Arg321His)" "" "0001041184" "00000083" "50" "788" "0" "788" "0" "c.788G>A" "r.(?)" "p.(Arg263Gln)" "" "0001041185" "00000083" "50" "144" "0" "144" "0" "c.144G>C" "r.(?)" "p.(Glu48Asp)" "" "0001041186" "00000083" "50" "19" "0" "19" "0" "c.19G>A" "r.(?)" "p.(Glu7Lys)" "" "0001055588" "00000083" "50" "3739" "0" "3739" "0" "c.3739G>A" "r.(?)" "p.(Glu1247Lys)" "" "0001055589" "00000083" "90" "3558" "0" "3559" "0" "c.3558_3559dup" "r.(?)" "p.(Pro1187Hisfs*21)" "" "0001055590" "00000083" "30" "2958" "0" "2958" "0" "c.2958T>C" "r.(?)" "p.(=)" "" "0001055591" "00000083" "50" "1574" "0" "1574" "0" "c.1574A>G" "r.(?)" "p.(Asp525Gly)" "" "0001055592" "00000083" "50" "287" "0" "287" "0" "c.287G>A" "r.(?)" "p.(Gly96Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 78 "{{screeningid}}" "{{variantid}}" "0000000028" "0000000642" "0000028951" "0000785442" "0000028957" "0000785444" "0000028981" "0000052288" "0000028981" "0000052289" "0000033173" "0000060484" "0000033173" "0000060485" "0000033406" "0000060486" "0000033406" "0000060487" "0000292655" "0000649344" "0000292656" "0000649345" "0000292657" "0000649346" "0000305646" "0000669334" "0000332775" "0000730057" "0000333416" "0000730991" "0000333438" "0000731013" "0000333438" "0000731084" "0000333445" "0000731020" "0000333445" "0000731095" "0000333445" "0000731096" "0000360095" "0000759771" "0000360095" "0000759794" "0000360100" "0000759800" "0000360100" "0000759801" "0000373536" "0000783516" "0000373536" "0000783716" "0000373537" "0000783517" "0000373537" "0000783717" "0000373538" "0000783518" "0000373538" "0000783718" "0000373539" "0000783519" "0000373540" "0000783520" "0000373541" "0000783521" "0000373541" "0000783719" "0000373542" "0000783522" "0000373543" "0000783523" "0000373543" "0000783720" "0000373544" "0000783524" "0000373544" "0000783721" "0000374619" "0000785420" "0000376622" "0000788449" "0000378894" "0000791800" "0000378894" "0000791878" "0000378894" "0000791879" "0000378963" "0000791961" "0000378964" "0000791962" "0000378971" "0000791977" "0000378986" "0000792004" "0000379123" "0000792205" "0000380782" "0000793978" "0000382374" "0000796158" "0000382378" "0000796163" "0000389315" "0000818266" "0000389315" "0000818267" "0000389315" "0000818268" "0000401061" "0000834104" "0000401061" "0000834163" "0000401062" "0000834105" "0000409347" "0000846501" "0000410062" "0000847311" "0000415986" "0000873919" "0000445003" "0000951858" "0000445004" "0000951859" "0000445005" "0000951860" "0000445005" "0000951861" "0000445006" "0000951862" "0000445006" "0000951863" "0000445008" "0000951866" "0000445008" "0000951867" "0000445009" "0000951868" "0000445010" "0000951869" "0000445011" "0000951870" "0000445012" "0000951871" "0000449022" "0000959247" "0000449022" "0000959248" "0000449189" "0000958956" "0000449189" "0000959395" "0000456445" "0001010128"