### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SDCCAG8) # 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}}" "SDCCAG8" "serologically defined colon cancer antigen 8" "1" "q43" "unknown" "NG_027811.1" "UD_132085272488" "" "https://www.LOVD.nl/SDCCAG8" "" "1" "10671" "10806" "613524" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SDCCAG8_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00000" "2013-02-11 00:00:00" "00006" "2020-11-26 19:16:22" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00001564" "SDCCAG8" "serologically defined colon cancer antigen 8" "001" "NM_006642.3" "" "NP_006633.1" "" "" "" "-169" "2448" "2142" "243419307" "243663393" "00000" "2012-09-13 13:40:06" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00098" "SLSN7" "Senior-Loken syndrome, type 7 (SLSN-7)" "" "613615" "" "" "" "00001" "2012-12-14 10:02:44" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04212" "BBS" "Bardet-Biedl syndrome (BBS)" "" "" "" "" "" "00006" "2015-02-27 19:01:43" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04222" "PKD" "kidney disease, polycystic (PKD)" "" "" "" "" "" "00006" "2015-03-13 11:12:15" "00006" "2017-11-15 22:09:51" "04653" "BBS16" "Bardet-Biedl syndrome, type 16 (BBS-16)" "AR" "615993" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "06892" "NPHP" "nephronophthisis" "" "" "" "" "" "00006" "2022-01-23 12:29:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SDCCAG8" "00098" "SDCCAG8" "04653" ## Individuals ## Do not remove or alter this header ## ## Count = 47 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00079015" "" "" "" "11" "" "00006" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}, {PMID:Li 2017:28418496}" "6-generation family, 11 affecteds (4F, 7M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "PKRD142;61142" "00289794" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289795" "" "" "" "23" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302700" "" "" "" "1" "" "03601" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "F" "" "Oman" "" "0" "" "" "" "P24" "00309422" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00333364" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat4" "00358746" "" "" "" "1" "" "00000" "{PMID:Carrigan 2016:27624628}" "" "" "" "Ireland" "" "0" "" "" "" "" "00358747" "" "" "" "1" "" "00000" "{PMID:Carrigan 2016:27624628}" "" "" "" "Ireland" "" "0" "" "" "" "" "00358805" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "M" "yes" "United States" "" "0" "" "" "" "KK11-04" "00380364" "" "" "" "1" "" "00000" "{PMID:M\'hamdi_2014:23432027}" "" "F" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00383783" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18081727_A" "00385234" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "Algeria" "" "0" "" "" "" "" "00385284" "" "" "" "1" "" "00000" "{PMID:M\'hamdi-2014:23432027}" "" "F" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00387592" "" "" "" "1" "" "00000" "{PMID:Yamamura 2017:26968886}" "" "F" "no" "Japan" "" "0" "" "" "Japanese" "" "00389910" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 890, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1194" "00391368" "" "" "" "1" "" "00000" "{PMID:Méjécase 2020:3278337" "" "?" "" "United Arab Emirates" "" "0" "" "" "" "36" "00391587" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "?" "" "New Zealand" "" "0" "" "" "white" "86" "00399820" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "625" "00407653" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "J-50" "00418315" "" "" "" "1" "" "00000" "{PMID:Otto 2010:20835237}" "family F159, individual 21" "" "yes" "" "" "0" "" "" "Europe" "F159-21" "00418316" "" "" "" "1" "" "00000" "{PMID:Otto 2010:20835237}" "family F159, individual 22" "" "yes" "" "" "0" "" "" "Europe" "F159-22" "00418317" "" "" "" "1" "" "00000" "{PMID:Otto 2010:20835237}" "family FII.22, individual 21" "" "yes" "" "" "0" "" "" "" "FII.22-21" "00418318" "" "" "" "1" "" "00000" "{PMID:Otto 2010:20835237}" "family FII.22, individual 22" "" "yes" "" "" "0" "" "" "" "FII.22-22" "00418319" "" "" "" "1" "" "00000" "{PMID:Otto 2010:20835237}" "family AR37, individual 05" "" "no" "" "" "0" "" "" "Northern European" "AR37-05" "00418320" "" "" "" "1" "" "00000" "{PMID:Otto 2010:20835237}" "family AR37, individual 07" "" "no" "" "" "0" "" "" "Northern European" "AR37-07" "00418321" "" "" "" "1" "" "00000" "{PMID:Otto 2010:20835237}" "family AR37, individual 02" "" "no" "" "" "0" "" "" "Northern European" "AR37-02" "00418322" "" "" "" "1" "" "00000" "{PMID:Otto 2010:20835237}" "family FI.2, individual 21" "" "yes" "" "" "0" "" "" "Gypsy" "FI.2-21" "00418323" "" "" "" "1" "" "00000" "{PMID:Otto 2010:20835237}" "family FI.2, individual 22" "" "yes" "" "" "0" "" "" "Gypsy" "FI.2-22" "00418324" "" "" "" "1" "" "00000" "{PMID:Otto 2010:20835237}" "family FI.2, individual 23" "" "yes" "" "" "0" "" "" "Gypsy" "FI.2-23" "00418325" "" "" "" "1" "" "00000" "{PMID:Otto 2010:20835237}" "family FI.2, individual 24" "" "yes" "" "" "0" "" "" "Gypsy" "FI.2-24" "00418326" "" "" "" "1" "" "00000" "{PMID:Otto 2010:20835237}" "family A2290" "" "yes" "" "" "0" "" "" "Turkey" "A2290" "00418327" "" "" "" "1" "" "00000" "{PMID:Otto 2010:20835237}" "family SS, individual F336, individual 21" "" "yes" "" "" "0" "" "" "Algeria" "SS-F336-21" "00418328" "" "" "" "1" "" "00000" "{PMID:Otto 2010:20835237}" "family SS, individual F336, individual 22" "" "yes" "" "" "0" "" "" "Algeria" "SS-F336-22" "00418329" "" "" "" "1" "" "00000" "{PMID:Otto 2010:20835237}" "family SS23/A1365, individual 21" "" "yes" "" "" "0" "" "" "La Reunion" "SS23/A1365-21" "00418330" "" "" "" "1" "" "00000" "{PMID:Otto 2010:20835237}" "family SS23/A1365, individual 22" "" "yes" "" "" "0" "" "" "La Reunion" "SS23/A1365-22" "00418331" "" "" "" "1" "" "00000" "{PMID:Otto 2010:20835237}" "family NK, individual F1063" "" "no" "" "" "0" "" "" "India" "NK-F1063" "00418332" "" "" "" "1" "" "00000" "{PMID:Otto 2010:20835237}" "family F1054, individual 21" "" "yes" "" "" "0" "" "" "Pakistan" "F1054-21" "00418333" "" "" "" "1" "" "00000" "{PMID:Otto 2010:20835237}" "family F1054, individual 22" "" "yes" "" "" "0" "" "" "Pakistan" "F1054-22" "00418334" "" "" "" "1" "" "00000" "{PMID:Otto 2010:20835237}" "family F195" "" "" "" "" "0" "" "" "Germany" "F195" "00418335" "" "" "" "1" "" "00000" "{PMID:Schaefer 2011:22190896}" "family II.30" "F" "yes" "" "" "0" "" "" "Turkish" "II.30" "00418336" "" "" "" "1" "" "00000" "{PMID:Billingsley 2012:22626039}" "" "F" "" "" "" "0" "" "" "East Indian" "40" "00418337" "" "" "" "1" "" "00000" "{PMID:Billingsley 2012:22626039}" "" "F" "" "" "" "0" "" "" "East Indian" "59" "00424072" "" "" "" "1" "" "00000" "{PMID:Tay 2020:32432520}" "" "F" "" "New Zealand" "" "0" "" "" "Ashkenazi and Sephardic Jewish" "?" "00424074" "" "" "" "1" "" "00000" "{PMID:Bahmanpour 2020:32926352}" "proband" "M" "" "Iran" "" "0" "" "" "Iranian" "II:2" "00424075" "" "" "" "1" "" "00000" "{PMID:Bahmanpour 2020:32926352}" "proband\'s sister" "F" "" "Iran" "" "0" "" "" "Iranian" "II:1" "00447495" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "ARRP-285" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 47 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00079015" "04214" "00289794" "00198" "00289795" "00198" "00302700" "04222" "00309422" "04214" "00333364" "04214" "00358746" "04214" "00358747" "04214" "00358805" "04212" "00380364" "04214" "00383783" "04214" "00385234" "04214" "00385284" "04214" "00387592" "04214" "00389910" "04214" "00391368" "04214" "00391587" "04214" "00399820" "06892" "00407653" "04214" "00418315" "00098" "00418316" "00098" "00418317" "00098" "00418318" "00098" "00418319" "00098" "00418320" "00098" "00418321" "00098" "00418322" "00098" "00418323" "00098" "00418324" "00098" "00418325" "00098" "00418326" "00098" "00418327" "00098" "00418328" "00098" "00418329" "00098" "00418330" "00098" "00418331" "00098" "00418332" "00098" "00418333" "00098" "00418334" "00098" "00418335" "04212" "00418336" "04212" "00418337" "04212" "00424072" "04214" "00424074" "04212" "00424075" "04212" "00447495" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00098, 00198, 01157, 04212, 04214, 04222, 04653, 06892 ## Count = 44 "{{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/Cysts}}" "{{Phenotype/Hypertension/HPO_0000822}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "" "" "0000058769" "04214" "00079015" "00006" "Familial, autosomal recessive" "" "see paper; ..., progressive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000229784" "04222" "00302700" "03601" "Familial, autosomal recessive" "8y" "" "" "" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "0000234742" "04214" "00309422" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "SLS" "" "0000251551" "04214" "00333364" "00000" "Unknown" "17y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253961" "04214" "00358746" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000253962" "04214" "00358747" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254020" "04212" "00358805" "00000" "Unknown" "17y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000274215" "04214" "00380364" "00000" "Familial, autosomal recessive" "11y" "retinitis pigmentaria" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000277568" "04214" "00383783" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000279030" "04214" "00385234" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279080" "04214" "00385284" "00000" "Familial, autosomal recessive" "11y" "obesity, retinitis pigmentosa, polydactyly, mental retardation, visual impairment" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000281155" "04214" "00387592" "00000" "Familial" "" "Intellectual disability, epilepsy, mild renal insufficiency, retinitis pigmentosa" "3y" "" "" "" "" "" "" "" "" "" "" "Nephronophthisis" "" "0000283451" "04214" "00389910" "00000" "Isolated (sporadic)" "46y" "age at genetic diagnosis mentioned" "" "42y" "" "" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000284808" "04214" "00391368" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome 16 (615993)" "Bardet-Biedl syndrome 16 (615993)" "" "0000284923" "04214" "00391587" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Senior-Loken Syndrome/rod-cone dystrophy" "" "0000299800" "04214" "00407653" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 14, extra-renal manifestations: amblyopia, strabismus, leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000309684" "00098" "00418315" "00000" "Familial, autosomal recessive" "" "age at end-stage kidney failure: 11y; retinal degeneration at age: 7y" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome (SLSN" "" "" "0000309685" "00098" "00418316" "00000" "Familial, autosomal recessive" "" "age at end-stage kidney failure: 7y; at 6y no retinal degeneration; other: generalized seizures" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome (SLSN" "" "" "0000309686" "00098" "00418317" "00000" "Familial, autosomal recessive" "" "age at end-stage kidney failure: 13y; retinal degeneration at age: 14y; other: mild mental retardation, hypogenitalism, obesity" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome (SLSN" "" "" "0000309687" "00098" "00418318" "00000" "Familial, autosomal recessive" "" "age at end-stage kidney failure: 13y; retinal degeneration at age: 1y; other: mild mental retardation, hypogenitalism, obesity" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome (SLSN" "" "" "0000309688" "00098" "00418319" "00000" "Familial, autosomal recessive" "" "age at end-stage kidney failure: 22y; retinal degeneration at age: 13y; other: obesity, hypogenitalism, peripheral neuropathy" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome (SLSN" "" "" "0000309689" "00098" "00418320" "00000" "Familial, autosomal recessive" "" "no end-stage kidney failure; retinal degeneration at age: 11y; other: mental retardation" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome (SLSN" "" "" "0000309690" "00098" "00418321" "00000" "Familial, autosomal recessive" "" "age at end-stage kidney failure: 28y; retinal degeneration at age: 2y; other: obesity, clinodactyly of 5th finger bilaterally" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome (SLSN" "" "" "0000309691" "00098" "00418322" "00000" "Familial, autosomal recessive" "" "age at end-stage kidney failure: 23y; retinal degeneration at age: 29y; other: mild mental retardation, obesity." "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome (SLSN" "" "" "0000309692" "00098" "00418323" "00000" "Familial, autosomal recessive" "" "age at end-stage kidney failure: 13y; retinal degeneration at age: 13y; other: mild mental retardation, obesity." "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome (SLSN" "" "" "0000309693" "00098" "00418324" "00000" "Familial, autosomal recessive" "" "age at end-stage kidney failure: 10y; retinal degeneration at age: 10y; other: mild mental retardation" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome (SLSN" "" "" "0000309694" "00098" "00418325" "00000" "Familial, autosomal recessive" "" "age at end-stage kidney failure: 6y; retinal degeneration at age: 6y" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome (SLSN" "" "" "0000309695" "00098" "00418326" "00000" "Familial, autosomal recessive" "" "age at end-stage kidney failure: kidney biopsy demonstrated nephronophthisis: 14y; retinal degeneration at age: age unknown; other: brain: arachnoid cyst, mild mental retardation" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome (SLSN" "" "" "0000309696" "00098" "00418327" "00000" "Familial, autosomal recessive" "" "age at end-stage kidney failure: kidney biopsy demonstrated nephronophthisis: 7y; retinal degeneration at age: 13y; flat electroretinogram; other: mild mental retardation, no liver or bone disease" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome (SLSN" "" "" "0000309697" "00098" "00418328" "00000" "Familial, autosomal recessive" "" "age at end-stage kidney failure: kidney biopsy demonstrated nephronophthisis: 4y; retinal degeneration at age: 6y; flat electroretinogram" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome (SLSN" "" "" "0000309698" "00098" "00418329" "00000" "Familial, autosomal recessive" "" "age at end-stage kidney failure: kidney biopsy demonstrated nephronophthisis: 4y; retinal degeneration at age: 14y; 30% vision; other: brain scan normal" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome (SLSN" "" "" "0000309699" "00098" "00418330" "00000" "Familial, autosomal recessive" "" "age at end-stage kidney failure: kidney biopsy demonstrated nephronophthisis: 4y; retinal degeneration at age: 7y" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome (SLSN" "" "" "0000309700" "00098" "00418331" "00000" "Familial, autosomal recessive" "" "age at end-stage kidney failure: end-stage kidney failure, age unknown; retinal degeneration at age: age unknown; other: obesity, mild mental retardation" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome (SLSN" "" "" "0000309701" "00098" "00418332" "00000" "Familial, autosomal recessive" "" "age at end-stage kidney failure: <10y; retinal degeneration at age: no data; other: polycystic ovary syndrome" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome (SLSN" "" "" "0000309702" "00098" "00418333" "00000" "Familial, autosomal recessive" "" "age at end-stage kidney failure: <9y; retinal degeneration at age: no data" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome (SLSN" "" "" "0000309703" "00098" "00418334" "00000" "Familial, autosomal recessive" "" "age at end-stage kidney failure: kidney biopsy demonstrated nephronophthisis: 22y; retinal degeneration at age: age unknown; other: no data" "" "" "" "" "" "" "" "" "" "" "Senior-Loken syndrome (SLSN" "" "" "0000309704" "04212" "00418335" "00000" "Familial, autosomal recessive" "" "5y: hospitalized for general deterioration related to terminal renal failure; obesity (body mass index: 22); cone-rod dystrophy: 5y; chronic renal failure: 5y; no polydactyly; hypogonadism/hypogenitalism: not determined; developmental delay; mild mental retardation and speech delay; conductive hearing loss/ recurrent otitis; since the age of 1 month, recurrent respiratory infection; respiratory failure: not determined; asthma: not determined" "6y" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309705" "04212" "00418336" "00000" "Familial, autosomal recessive" "" "current body mass index: 32.22; body mass index at 10y: 25.5; kidney: end-stage renal disease, transplant at 11y; short stature; abdominal ultrasound: uterus, ovaries, liver, gallbladder, pancreas, spleen, and bladder normal; cognitive impairment: mild; hearing: conductive loss; smell: normal; digits: normal; transaminases: upper limit of normal; high blood pressure: yes, treated; dental anomalies: absent; cardiac assessment: normal; pulmonary assessment: asthma; diabetes mellitus: absent; seizures: absent; psychiatric assessment: transient period of behavioral changes immediately following renal transplantation; other: slight increase in cholesterol and insulin, no dysmorphism" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000309706" "04212" "00418337" "00000" "Familial, autosomal recessive" "" "current body mass index: 25.21; body mass index at 10y: 27.1; kidney: end-stage renal disease, transplant at 9y; short stature; abdominal ultrasound: non-alcoholic fatty liver disease (12y), pancreas, heart, uterus, and ovaries normal; cognitive impairment: very mild; hearing: normal; smell: normal; digits: partial syndactyly of 2nd and 3rd toes on both feet; transaminases: elevated since 8y; high blood pressure: yes, treated; dental anomalies: absent; cardiac assessment: trace mitral and tricuspid regurgitation; pulmonary assessment: asthma, recurrent pneumonia; diabetes mellitus: absent; seizures: absent; psychiatric assessment: none noted to date; other: slight increase in triglycerides and insulin, no dysmorphism" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "" "0000315279" "04214" "00424072" "00000" "Familial, autosomal recessive" "16y" "10y: complaints of nyctalopia and photophobia; despite a hyperopic correction worn from age 5, vision did not improve beyond 0.2; no significant past medical history, no family history of any ocular problems; best-corrected visual acuity right/left eye: 0.3 / 0.2; normal colour vision; ocular alignment and motility: normal with no evidence of nystagmus; fundus: granular with marked atrophy outside the arcades and arteriolar attenuation, minimal retinal pigmentation and mild disc pallor; fundus a utofluorescence: perifoveal ring of hyperautofluorescence correlated to a zone within 1500 microns of the fovea on optical coherence tomography, delineating loss of photoreceptor outer segments and marked thinning of the outer retina; electrophysiology: severely reduced rod and cone responses, indicating a moderately severe rod-cone retinal dystrophy; within a month, the proband presented acutely with end-stage renal failure requiring urgent peritoneal dialysis" "" "10y" "nyctalopia and photophobia" "" "" "" "" "" "" "" "Senior-Loken syndrome" "" "" "0000315281" "04212" "00424074" "00000" "Familial, autosomal recessive" "12y" "current body mass index: 23.1; kidney: end-stage renal disease, transplant; retinal findings: retinitis pigmentosa and cone-rod dystrophy; stature: medium stature; abdominal ultrasound: liver, spleen, pancreas, bladder and prostate are normal, no fluid in abdomen or hip; cognitive impairment: absent; hearing: normal; smell: normal; digits: normal; transaminases: high alanine and aspartate aminotransferase; high blood pressure: no; dental anomalies: no; cardiac assessment: normal; pulmonary assessment: normal; diabetes mellitus: absent; seizures: absent; psychiatric assessment: normal; other: elevated levels of urea, creatinine and cholesterol" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000315282" "04212" "00424075" "00000" "Familial, autosomal recessive" "22y" "current body mass index: 26.4; kidney: normal; retinal findings: retinitis pigmentosa and cone-rod dystrophy; stature: medium stature; cognitive impairment: absent; hearing: normal; smell: normal; digits: normal; transaminases: within normal limits; high blood pressure: no; dental anomalies: no; cardiac assessment: normal; pulmonary assessment: normal; diabetes mellitus: absent; seizures: absent; psychiatric assessment: normal" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000336694" "00198" "00447495" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" ## Screenings ## Do not remove or alter this header ## ## Count = 47 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000079200" "00079015" "1" "00006" "00006" "2016-07-29 16:29:51" "" "" "SEQ" "DNA" "" "" "0000290962" "00289794" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290963" "00289795" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000303826" "00302700" "1" "03601" "00006" "2020-05-29 16:19:26" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000310567" "00309422" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000334589" "00333364" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000359976" "00358746" "1" "00000" "00006" "2021-03-11 13:59:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000359977" "00358747" "1" "00000" "00006" "2021-03-11 13:59:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360035" "00358805" "1" "00000" "00006" "2021-03-12 18:57:14" "" "" "arrayCGH;PCRlr;SEQ-NG" "DNA" "" "" "0000381578" "00380364" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000385008" "00383783" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" "" "0000386463" "00385234" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386513" "00385284" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "" "targeted exon capture strategy" "0000388818" "00387592" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;PCR" "DNA" "blood" "" "0000391153" "00389910" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000392610" "00391368" "1" "00000" "03840" "2021-11-15 18:02:17" "" "" "SEQ-NG" "DNA" "" "retrospective case note review, targeted gene panel testing" "0000392829" "00391587" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000401063" "00399820" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000408905" "00407653" "1" "00000" "03840" "2022-04-07 15:22:18" "" "" "SEQ-NG-I" "DNA" "" "targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD" "0000419610" "00418315" "1" "00000" "03840" "2022-09-28 11:51:17" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "" "829 nephronophthisis-related ciliopathies candidate genes" "0000419611" "00418316" "1" "00000" "03840" "2022-09-28 11:51:17" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "" "829 nephronophthisis-related ciliopathies candidate genes" "0000419612" "00418317" "1" "00000" "03840" "2022-09-28 11:51:17" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "" "829 nephronophthisis-related ciliopathies candidate genes" "0000419613" "00418318" "1" "00000" "03840" "2022-09-28 11:51:17" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "" "829 nephronophthisis-related ciliopathies candidate genes" "0000419614" "00418319" "1" "00000" "03840" "2022-09-28 11:51:17" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "" "829 nephronophthisis-related ciliopathies candidate genes" "0000419615" "00418320" "1" "00000" "03840" "2022-09-28 11:51:17" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "" "829 nephronophthisis-related ciliopathies candidate genes" "0000419616" "00418321" "1" "00000" "03840" "2022-09-28 11:51:17" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "" "829 nephronophthisis-related ciliopathies candidate genes" "0000419617" "00418322" "1" "00000" "03840" "2022-09-28 11:51:17" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "" "829 nephronophthisis-related ciliopathies candidate genes" "0000419618" "00418323" "1" "00000" "03840" "2022-09-28 11:51:17" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "" "829 nephronophthisis-related ciliopathies candidate genes" "0000419619" "00418324" "1" "00000" "03840" "2022-09-28 11:51:17" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "" "829 nephronophthisis-related ciliopathies candidate genes" "0000419620" "00418325" "1" "00000" "03840" "2022-09-28 11:51:17" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "" "829 nephronophthisis-related ciliopathies candidate genes" "0000419621" "00418326" "1" "00000" "03840" "2022-09-28 11:51:17" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "" "829 nephronophthisis-related ciliopathies candidate genes" "0000419622" "00418327" "1" "00000" "03840" "2022-09-28 11:51:17" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "" "829 nephronophthisis-related ciliopathies candidate genes" "0000419623" "00418328" "1" "00000" "03840" "2022-09-28 11:51:17" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "" "829 nephronophthisis-related ciliopathies candidate genes" "0000419624" "00418329" "1" "00000" "03840" "2022-09-28 11:51:17" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "" "829 nephronophthisis-related ciliopathies candidate genes" "0000419625" "00418330" "1" "00000" "03840" "2022-09-28 11:51:17" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "" "829 nephronophthisis-related ciliopathies candidate genes" "0000419626" "00418331" "1" "00000" "03840" "2022-09-28 11:51:17" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "" "829 nephronophthisis-related ciliopathies candidate genes" "0000419627" "00418332" "1" "00000" "03840" "2022-09-28 11:51:17" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "" "829 nephronophthisis-related ciliopathies candidate genes" "0000419628" "00418333" "1" "00000" "03840" "2022-09-28 11:51:17" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "" "829 nephronophthisis-related ciliopathies candidate genes" "0000419629" "00418334" "1" "00000" "03840" "2022-09-28 11:51:17" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "" "829 nephronophthisis-related ciliopathies candidate genes" "0000419630" "00418335" "1" "00000" "03840" "2022-09-28 12:32:58" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000419631" "00418336" "1" "00000" "03840" "2022-09-28 13:13:01" "" "" "SEQ" "DNA" "blood" "" "0000419632" "00418337" "1" "00000" "03840" "2022-09-28 13:13:01" "" "" "SEQ" "DNA" "blood" "" "0000425383" "00424072" "1" "00000" "03840" "2022-11-16 16:15:27" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425385" "00424074" "1" "00000" "03840" "2022-11-16 19:00:01" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000425386" "00424075" "1" "00000" "03840" "2022-11-16 19:00:01" "" "" "SEQ" "DNA" "blood" "" "0000449072" "00447495" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 42 "{{screeningid}}" "{{geneid}}" "0000079200" "CNGB1" "0000303826" "SDCCAG8" "0000310567" "SDCCAG8" "0000359976" "SDCCAG8" "0000359977" "SDCCAG8" "0000360035" "ARL6" "0000360035" "SDCCAG8" "0000381578" "WDPCP" "0000385008" "USH2A" "0000386463" "BBS2" "0000386513" "BBS5" "0000388818" "SDCCAG8" "0000391153" "SDCCAG8" "0000392610" "SDCCAG8" "0000392829" "SDCCAG8" "0000408905" "SDCCAG8" "0000419610" "SDCCAG8" "0000419611" "SDCCAG8" "0000419612" "SDCCAG8" "0000419613" "SDCCAG8" "0000419614" "SDCCAG8" "0000419615" "SDCCAG8" "0000419616" "SDCCAG8" "0000419617" "SDCCAG8" "0000419618" "SDCCAG8" "0000419619" "SDCCAG8" "0000419620" "SDCCAG8" "0000419621" "SDCCAG8" "0000419622" "SDCCAG8" "0000419623" "SDCCAG8" "0000419624" "SDCCAG8" "0000419625" "SDCCAG8" "0000419626" "SDCCAG8" "0000419627" "SDCCAG8" "0000419628" "SDCCAG8" "0000419629" "SDCCAG8" "0000419630" "SDCCAG8" "0000419631" "SDCCAG8" "0000419632" "SDCCAG8" "0000425383" "SDCCAG8" "0000425385" "SDCCAG8" "0000425386" "SDCCAG8" ## 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 = 162 "{{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}}" "0000003608" "3" "30" "1" "243659727" "243659727" "subst" "0" "00037" "SDCCAG8_000001" "g.243659727A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.243496425A>G" "" "likely benign" "" "0000245455" "0" "10" "1" "243433432" "243433432" "subst" "8.1244E-6" "02330" "SDCCAG8_000004" "g.243433432A>G" "" "" "" "SDCCAG8(NM_001350248.1):c.93A>G (p.Q31=), SDCCAG8(NM_006642.5):c.93A>G (p.Q31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243270130A>G" "" "benign" "" "0000245456" "0" "10" "1" "243589789" "243589789" "subst" "2.8449E-5" "02330" "SDCCAG8_000027" "g.243589789A>G" "" "" "" "SDCCAG8(NM_006642.5):c.1914A>G (p.L638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243426487A>G" "" "benign" "" "0000245466" "0" "10" "1" "243507569" "243507569" "subst" "0.000747834" "02330" "SDCCAG8_000021" "g.243507569A>G" "" "" "" "SDCCAG8(NM_001350251.1):c.506A>G (p.E169G), SDCCAG8(NM_006642.5):c.1409A>G (p.E470G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243344267A>G" "" "benign" "" "0000245530" "0" "30" "1" "243434292" "243434292" "subst" "6.09295E-5" "02330" "SDCCAG8_000005" "g.243434292A>G" "" "" "" "SDCCAG8(NM_001350248.1):c.233A>G (p.K78R), SDCCAG8(NM_006642.3):c.233A>G (p.(Lys78Arg)), SDCCAG8(NM_006642.5):c.233A>G (p.K78R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243270990A>G" "" "likely benign" "" "0000247981" "0" "10" "1" "243493907" "243493907" "subst" "0.295631" "02325" "SDCCAG8_000018" "g.243493907A>T" "" "" "" "SDCCAG8(NM_006642.4):c.1134A>T (p.E378D), SDCCAG8(NM_006642.5):c.1134A>T (p.E378D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243330605A>T" "" "benign" "" "0000249501" "0" "30" "1" "243736209" "243736209" "subst" "0" "02325" "AKT3_000006" "g.243736209A>T" "" "" "" "AKT3(NM_005465.7):c.819+19T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243572907A>T" "" "likely benign" "" "0000251219" "0" "10" "1" "243480036" "243480036" "subst" "0.0191348" "02326" "SDCCAG8_000017" "g.243480036A>G" "" "" "" "SDCCAG8(NM_006642.5):c.930-21A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243316734A>G" "" "benign" "" "0000253242" "0" "10" "1" "243493907" "243493907" "subst" "0.295631" "01943" "SDCCAG8_000018" "g.243493907A>T" "" "" "" "SDCCAG8(NM_006642.4):c.1134A>T (p.E378D), SDCCAG8(NM_006642.5):c.1134A>T (p.E378D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243330605A>T" "" "benign" "" "0000253740" "0" "10" "1" "243736226" "243736226" "subst" "0" "01943" "AKT3_000008" "g.243736226A>T" "" "" "" "AKT3(NM_001206729.1):c.819+2T>A (p.?), AKT3(NM_005465.5):c.819+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243572924A>T" "" "benign" "" "0000255100" "0" "30" "1" "243581340" "243581340" "subst" "2.84713E-5" "01943" "SDCCAG8_000026" "g.243581340A>G" "" "" "" "SDCCAG8(NM_006642.4):c.1815A>G (p.T605=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243418038A>G" "" "likely benign" "" "0000255187" "0" "30" "1" "243828214" "243828214" "subst" "0" "01943" "AKT3_000013" "g.243828214A>G" "" "" "" "AKT3(NM_005465.5):c.173-29T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243664912A>G" "" "likely benign" "" "0000255188" "0" "30" "1" "243858880" "243858880" "subst" "4.3456E-6" "01943" "AKT3_000014" "g.243858880A>T" "" "" "" "AKT3(NM_005465.5):c.172+13T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243695578A>T" "" "likely benign" "" "0000255371" "0" "70" "1" "243800926" "243800926" "subst" "0" "01943" "AKT3_000011" "g.243800926A>T" "" "" "" "AKT3(NM_005465.5):c.548T>A (p.V183D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243637624A>T" "" "likely pathogenic" "" "0000260050" "0" "70" "1" "243776987" "243776987" "subst" "0" "02329" "AKT3_000009" "g.243776987C>T" "" "" "" "AKT3(NM_005465.7):c.682G>A (p.V228I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243613685C>T" "" "likely pathogenic" "" "0000262188" "0" "70" "1" "243668598" "243668598" "subst" "0" "01943" "AKT3_000001" "g.243668598G>A" "" "" "" "AKT3(NM_005465.4):c.1393C>T (p.(Arg465Trp)), AKT3(NM_005465.5):c.1393C>T (p.R465W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243505296G>A" "" "likely pathogenic" "" "0000262189" "0" "30" "1" "243668575" "243668575" "subst" "0.000856846" "01943" "AKT3_000003" "g.243668575G>C" "" "" "" "AKT3(NM_005465.5):c.1416C>G (p.S472=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243505273G>C" "" "likely benign" "" "0000262190" "0" "10" "1" "243809352" "243809352" "subst" "0.000426362" "01943" "AKT3_000012" "g.243809352G>A" "" "" "" "AKT3(NM_005465.5):c.285-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243646050G>A" "" "benign" "" "0000262191" "0" "10" "1" "243777066" "243777066" "subst" "0.20273" "01943" "AKT3_000010" "g.243777066G>A" "" "" "" "AKT3(NM_005465.5):c.628-25C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243613764G>A" "" "benign" "" "0000262192" "0" "10" "1" "243736225" "243736225" "del" "0" "01943" "AKT3_000007" "g.243736225del" "" "" "" "AKT3(NM_005465.5):c.819+17delA, AKT3(NM_005465.7):c.819+17delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243572923del" "" "benign" "" "0000262193" "0" "10" "1" "243727168" "243727168" "subst" "3.90561E-5" "01943" "AKT3_000005" "g.243727168T>C" "" "" "" "AKT3(NM_005465.5):c.820-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243563866T>C" "" "benign" "" "0000262194" "0" "10" "1" "243727013" "243727013" "subst" "0.000122914" "01943" "AKT3_000004" "g.243727013G>T" "" "" "" "AKT3(NM_005465.5):c.948+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243563711G>T" "" "benign" "" "0000295702" "0" "50" "1" "243504406" "243504406" "subst" "2.03156E-5" "02330" "SDCCAG8_000019" "g.243504406G>T" "" "" "" "SDCCAG8(NM_006642.5):c.1287G>T (p.K429N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243341104G>T" "" "VUS" "" "0000295703" "0" "50" "1" "243504456" "243504456" "subst" "0" "02330" "SDCCAG8_000020" "g.243504456G>C" "" "" "" "SDCCAG8(NM_006642.5):c.1337G>C (p.R446P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243341154G>C" "" "VUS" "" "0000295704" "0" "30" "1" "243507589" "243507589" "subst" "3.251E-5" "02330" "SDCCAG8_000022" "g.243507589G>C" "" "" "" "SDCCAG8(NM_006642.5):c.1429G>C (p.E477Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243344287G>C" "" "likely benign" "" "0000295705" "0" "30" "1" "243542017" "243542017" "subst" "0.000720139" "02330" "SDCCAG8_000024" "g.243542017C>T" "" "" "" "SDCCAG8(NM_001350251.2):c.571-6C>T, SDCCAG8(NM_006642.4):c.1474-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243378715C>T" "" "likely benign" "" "0000295706" "0" "10" "1" "243434326" "243434326" "subst" "0.000828696" "02330" "SDCCAG8_000007" "g.243434326T>C" "" "" "" "SDCCAG8(NM_006642.5):c.267T>C (p.S89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243271024T>C" "" "benign" "" "0000295707" "0" "50" "1" "243434337" "243434337" "subst" "0.00100343" "02330" "SDCCAG8_000008" "g.243434337C>T" "" "" "" "SDCCAG8(NM_006642.3):c.278C>T (p.(Pro93Leu)), SDCCAG8(NM_006642.4):c.278C>T (p.P93L), SDCCAG8(NM_006642.5):c.278C>T (p.P93L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243271035C>T" "" "VUS" "" "0000295708" "0" "10" "1" "243434338" "243434338" "subst" "0.00248229" "02330" "SDCCAG8_000009" "g.243434338G>A" "" "" "" "SDCCAG8(NM_001350248.1):c.279G>A (p.P93=), SDCCAG8(NM_006642.5):c.279G>A (p.P93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243271036G>A" "" "benign" "" "0000295710" "0" "50" "1" "243471328" "243471328" "subst" "0.000609498" "02330" "SDCCAG8_000015" "g.243471328C>G" "" "" "" "SDCCAG8(NM_001350248.1):c.874C>G (p.L292V), SDCCAG8(NM_006642.5):c.778C>G (p.L260V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243308026C>G" "" "VUS" "" "0000298047" "0" "10" "1" "243579112" "243579112" "subst" "0.499232" "02325" "SDCCAG8_000025" "g.243579112G>A" "" "" "" "SDCCAG8(NM_006642.4):c.1725G>A (p.E575=), SDCCAG8(NM_006642.5):c.1725G>A (p.E575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243415810G>A" "" "benign" "" "0000301995" "0" "10" "1" "243541986" "243541986" "subst" "0.00783389" "02326" "SDCCAG8_000023" "g.243541986T>G" "" "" "" "SDCCAG8(NM_006642.5):c.1474-37T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243378684T>G" "" "benign" "" "0000307844" "0" "50" "1" "243419472" "243419472" "subst" "0.000856797" "01943" "SDCCAG8_000002" "g.243419472G>A" "" "" "" "SDCCAG8(NM_006642.4):c.-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243256170G>A" "" "VUS" "" "0000307845" "0" "30" "1" "243542017" "243542017" "subst" "0.000720139" "01943" "SDCCAG8_000024" "g.243542017C>T" "" "" "" "SDCCAG8(NM_001350251.2):c.571-6C>T, SDCCAG8(NM_006642.4):c.1474-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243378715C>T" "" "likely benign" "" "0000307846" "0" "10" "1" "243579112" "243579112" "subst" "0.499232" "01943" "SDCCAG8_000025" "g.243579112G>A" "" "" "" "SDCCAG8(NM_006642.4):c.1725G>A (p.E575=), SDCCAG8(NM_006642.5):c.1725G>A (p.E575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243415810G>A" "" "benign" "" "0000307847" "0" "30" "1" "243434296" "243434296" "subst" "0.000369648" "01943" "SDCCAG8_000006" "g.243434296T>A" "" "" "" "SDCCAG8(NM_006642.4):c.237T>A (p.D79E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243270994T>A" "" "likely benign" "" "0000307848" "0" "50" "1" "243434337" "243434337" "subst" "0.00100343" "01943" "SDCCAG8_000008" "g.243434337C>T" "" "" "" "SDCCAG8(NM_006642.3):c.278C>T (p.(Pro93Leu)), SDCCAG8(NM_006642.4):c.278C>T (p.P93L), SDCCAG8(NM_006642.5):c.278C>T (p.P93L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243271035C>T" "" "VUS" "" "0000307849" "0" "30" "1" "243434338" "243434338" "subst" "0.00248229" "01943" "SDCCAG8_000009" "g.243434338G>A" "" "" "" "SDCCAG8(NM_001350248.1):c.279G>A (p.P93=), SDCCAG8(NM_006642.5):c.279G>A (p.P93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243271036G>A" "" "likely benign" "" "0000307850" "0" "30" "1" "243437886" "243437886" "subst" "0.000735342" "01943" "SDCCAG8_000010" "g.243437886C>T" "" "" "" "SDCCAG8(NM_006642.4):c.348C>T (p.H116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243274584C>T" "" "likely benign" "" "0000307851" "0" "30" "1" "243456443" "243456443" "subst" "0.000186811" "01943" "SDCCAG8_000012" "g.243456443C>A" "" "" "" "SDCCAG8(NM_001350248.1):c.597C>A (p.G199=), SDCCAG8(NM_001350248.2):c.597C>A (p.G199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243293141C>A" "" "likely benign" "" "0000307852" "0" "30" "1" "243468006" "243468006" "subst" "1.63852E-5" "01943" "SDCCAG8_000013" "g.243468006T>C" "" "" "" "SDCCAG8(NM_006642.4):c.676-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243304704T>C" "" "likely benign" "" "0000307853" "0" "30" "1" "243471294" "243471294" "subst" "0.000174922" "01943" "SDCCAG8_000014" "g.243471294C>T" "" "" "" "SDCCAG8(NM_001350248.2):c.840C>T (p.N280=), SDCCAG8(NM_006642.4):c.744C>T (p.N248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243307992C>T" "" "likely benign" "" "0000307854" "0" "10" "1" "243471462" "243471462" "subst" "0.020109" "01943" "SDCCAG8_000016" "g.243471462C>T" "" "" "" "SDCCAG8(NM_006642.4):c.912C>T (p.T304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243308160C>T" "" "benign" "" "0000321409" "0" "50" "1" "243419516" "243419516" "subst" "4.06121E-6" "01804" "SDCCAG8_000003" "g.243419516T>C" "" "" "" "SDCCAG8(NM_006642.3):c.41T>C (p.(Leu14Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243256214T>C" "" "VUS" "" "0000321410" "0" "30" "1" "243434337" "243434337" "subst" "0.00100343" "01804" "SDCCAG8_000008" "g.243434337C>T" "" "" "" "SDCCAG8(NM_006642.3):c.278C>T (p.(Pro93Leu)), SDCCAG8(NM_006642.4):c.278C>T (p.P93L), SDCCAG8(NM_006642.5):c.278C>T (p.P93L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243271035C>T" "" "likely benign" "" "0000321411" "0" "50" "1" "243668598" "243668598" "subst" "0" "01804" "AKT3_000001" "g.243668598G>A" "" "" "" "AKT3(NM_005465.4):c.1393C>T (p.(Arg465Trp)), AKT3(NM_005465.5):c.1393C>T (p.R465W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.243505296G>A" "" "VUS" "" "0000506678" "0" "10" "1" "243433432" "243433432" "subst" "8.1244E-6" "02326" "SDCCAG8_000004" "g.243433432A>G" "" "" "" "SDCCAG8(NM_001350248.1):c.93A>G (p.Q31=), SDCCAG8(NM_006642.5):c.93A>G (p.Q31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243270130A>G" "" "benign" "" "0000506679" "0" "50" "1" "243433530" "243433530" "subst" "2.03321E-5" "02330" "SDCCAG8_000028" "g.243433530C>T" "" "" "" "SDCCAG8(NM_006642.5):c.191C>T (p.A64V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243270228C>T" "" "VUS" "" "0000506680" "0" "30" "1" "243434292" "243434292" "subst" "6.09295E-5" "01804" "SDCCAG8_000005" "g.243434292A>G" "" "" "" "SDCCAG8(NM_001350248.1):c.233A>G (p.K78R), SDCCAG8(NM_006642.3):c.233A>G (p.(Lys78Arg)), SDCCAG8(NM_006642.5):c.233A>G (p.K78R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243270990A>G" "" "likely benign" "" "0000506681" "0" "50" "1" "243437909" "243437909" "subst" "0" "02330" "SDCCAG8_000029" "g.243437909A>G" "" "" "" "SDCCAG8(NM_006642.5):c.371A>G (p.D124G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243274607A>G" "" "VUS" "" "0000506682" "0" "30" "1" "243437961" "243437961" "subst" "0" "02330" "SDCCAG8_000030" "g.243437961A>G" "" "" "" "SDCCAG8(NM_006642.5):c.420+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243274659A>G" "" "likely benign" "" "0000506683" "0" "30" "1" "243456418" "243456418" "subst" "0.000263977" "01943" "SDCCAG8_000031" "g.243456418C>T" "" "" "" "SDCCAG8(NM_006642.4):c.572C>T (p.T191I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243293116C>T" "" "likely benign" "" "0000506684" "0" "30" "1" "243456708" "243456708" "subst" "0" "02330" "SDCCAG8_000032" "g.243456708T>C" "" "" "" "SDCCAG8(NM_006642.5):c.675+187T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243293406T>C" "" "likely benign" "" "0000506685" "0" "10" "1" "243471348" "243471348" "subst" "0.00120257" "01943" "SDCCAG8_000033" "g.243471348T>C" "" "" "" "SDCCAG8(NM_001350248.2):c.894T>C (p.H298=), SDCCAG8(NM_006642.4):c.798T>C (p.H266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243308046T>C" "" "benign" "" "0000506686" "0" "30" "1" "243471475" "243471475" "subst" "0.000158452" "01804" "SDCCAG8_000034" "g.243471475G>A" "" "" "" "SDCCAG8(NM_006642.3):c.925G>A (p.(Val309Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243308173G>A" "" "likely benign" "" "0000506687" "0" "30" "1" "243493867" "243493867" "subst" "0.000503676" "01804" "SDCCAG8_000035" "g.243493867G>A" "" "" "" "SDCCAG8(NM_001350251.1):c.191G>A (p.R64K), SDCCAG8(NM_006642.3):c.1094G>A (p.(Arg365Lys)), SDCCAG8(NM_006642.5):c.1094G>A (p.R365K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243330565G>A" "" "likely benign" "" "0000506688" "0" "30" "1" "243493998" "243493998" "subst" "2.03265E-5" "01943" "SDCCAG8_000036" "g.243493998C>G" "" "" "" "SDCCAG8(NM_006642.4):c.1221+4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243330696C>G" "" "likely benign" "" "0000506695" "0" "30" "1" "243581286" "243581286" "subst" "0.000500114" "01943" "SDCCAG8_000037" "g.243581286G>A" "" "" "" "SDCCAG8(NM_006642.4):c.1761G>A (p.L587=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243417984G>A" "" "likely benign" "" "0000506700" "0" "10" "1" "243652446" "243652446" "subst" "0" "02330" "SDCCAG8_000038" "g.243652446C>G" "" "" "" "SDCCAG8(NM_006642.5):c.2112+4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243489144C>G" "" "benign" "" "0000506701" "0" "30" "1" "243675644" "243675644" "subst" "1.82209E-5" "01804" "SDCCAG8_000039" "g.243675644T>C" "" "" "" "AKT3(NM_001206729.1):c.1336A>G (p.(Ile446Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243512342T>C" "" "likely benign" "" "0000506702" "0" "10" "1" "243736224" "243736225" "del" "0" "02330" "SDCCAG8_000040" "g.243736224_243736225del" "" "" "" "AKT3(NM_005465.7):c.819+16_819+17delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243572922_243572923del" "" "benign" "" "0000506703" "0" "10" "1" "243736225" "243736225" "del" "0" "02330" "AKT3_000007" "g.243736225del" "" "" "" "AKT3(NM_005465.5):c.819+17delA, AKT3(NM_005465.7):c.819+17delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243572923del" "" "benign" "" "0000506704" "0" "30" "1" "243736226" "243736226" "subst" "0" "01804" "AKT3_000008" "g.243736226A>T" "" "" "" "AKT3(NM_001206729.1):c.819+2T>A (p.?), AKT3(NM_005465.5):c.819+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243572924A>T" "" "likely benign" "" "0000506705" "0" "30" "1" "243736227" "243736227" "subst" "0" "01804" "SDCCAG8_000041" "g.243736227C>T" "" "" "" "AKT3(NM_001206729.1):c.819+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243572925C>T" "" "likely benign" "" "0000506706" "0" "30" "1" "243736228" "243736228" "subst" "0" "01804" "SDCCAG8_000042" "g.243736228C>T" "" "" "" "AKT3(NM_001206729.1):c.819G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243572926C>T" "" "likely benign" "" "0000605587" "0" "30" "1" "243456443" "243456443" "subst" "0.000186811" "02330" "SDCCAG8_000012" "g.243456443C>A" "" "" "" "SDCCAG8(NM_001350248.1):c.597C>A (p.G199=), SDCCAG8(NM_001350248.2):c.597C>A (p.G199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243293141C>A" "" "likely benign" "" "0000605588" "0" "50" "1" "243542168" "243542168" "subst" "0" "01943" "SDCCAG8_000044" "g.243542168A>T" "" "" "" "SDCCAG8(NM_006642.4):c.1616+3A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243378866A>T" "" "VUS" "" "0000605589" "0" "90" "1" "243736244" "243736244" "subst" "0" "01943" "SDCCAG8_000045" "g.243736244A>G" "" "" "" "AKT3(NM_005465.5):c.803T>C (p.V268A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243572942A>G" "" "pathogenic" "" "0000605590" "0" "30" "1" "243800922" "243800922" "subst" "8.60326E-6" "01943" "SDCCAG8_000046" "g.243800922A>G" "" "" "" "AKT3(NM_005465.5):c.552T>C (p.I184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243637620A>G" "" "likely benign" "" "0000620590" "0" "50" "1" "243471328" "243471328" "subst" "0.000609498" "01943" "SDCCAG8_000015" "g.243471328C>G" "" "" "" "SDCCAG8(NM_001350248.1):c.874C>G (p.L292V), SDCCAG8(NM_006642.5):c.778C>G (p.L260V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243308026C>G" "" "VUS" "" "0000620591" "0" "50" "1" "243480091" "243480091" "subst" "8.94076E-5" "01943" "SDCCAG8_000043" "g.243480091G>A" "" "" "" "SDCCAG8(NM_001350251.1):c.61G>A (p.V21I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243316789G>A" "" "VUS" "" "0000647651" "1" "50" "1" "243434337" "243434337" "subst" "0.00100343" "03575" "SDCCAG8_000008" "g.243434337C>T" "19/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "19 heterozygous, no homozygous; {DB:CLININrs140413256}" "Germline" "" "rs140413256" "0" "" "" "g.243271035C>T" "" "VUS" "" "0000647652" "1" "30" "1" "243471462" "243471462" "subst" "0.020109" "03575" "SDCCAG8_000016" "g.243471462C>T" "23/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "23 heterozygous, no homozygous; {DB:CLININrs976529}" "Germline" "" "rs976529" "0" "" "" "g.243308160C>T" "" "likely benign" "" "0000653978" "0" "30" "1" "243652312" "243652312" "subst" "0" "01943" "SDCCAG8_000047" "g.243652312C>G" "" "" "" "SDCCAG8(NM_001350251.1):c.1083-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243489010C>G" "" "likely benign" "" "0000653979" "0" "30" "1" "243652332" "243652332" "subst" "0" "01943" "SDCCAG8_000048" "g.243652332A>G" "" "" "" "SDCCAG8(NM_001350251.1):c.1099A>G (p.K367E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.243489030A>G" "" "likely benign" "" "0000667222" "3" "90" "1" "243507580" "243507580" "del" "0" "03601" "SDCCAG8_000049" "g.243507580del" "" "{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}" "" "1420delG (Glu474fs*493)" "" "Germline" "" "rs397515335" "0" "" "" "g.243344278del" "" "pathogenic (recessive)" "ACMG" "0000685478" "0" "90" "1" "243579101" "243579101" "subst" "0" "00004" "SDCCAG8_000050" "g.243579101C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000688111" "0" "50" "1" "243434292" "243434292" "subst" "6.09295E-5" "01943" "SDCCAG8_000005" "g.243434292A>G" "" "" "" "SDCCAG8(NM_001350248.1):c.233A>G (p.K78R), SDCCAG8(NM_006642.3):c.233A>G (p.(Lys78Arg)), SDCCAG8(NM_006642.5):c.233A>G (p.K78R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688112" "0" "50" "1" "243471186" "243471186" "subst" "0" "01943" "SDCCAG8_000051" "g.243471186G>T" "" "" "" "SDCCAG8(NM_001350251.1):c.-164+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717364" "0" "30" "1" "243433432" "243433432" "subst" "8.1244E-6" "01943" "SDCCAG8_000004" "g.243433432A>G" "" "" "" "SDCCAG8(NM_001350248.1):c.93A>G (p.Q31=), SDCCAG8(NM_006642.5):c.93A>G (p.Q31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717365" "0" "30" "1" "243493867" "243493867" "subst" "0.000503676" "01943" "SDCCAG8_000035" "g.243493867G>A" "" "" "" "SDCCAG8(NM_001350251.1):c.191G>A (p.R64K), SDCCAG8(NM_006642.3):c.1094G>A (p.(Arg365Lys)), SDCCAG8(NM_006642.5):c.1094G>A (p.R365K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717366" "0" "50" "1" "243507569" "243507569" "subst" "0.000747834" "01943" "SDCCAG8_000021" "g.243507569A>G" "" "" "" "SDCCAG8(NM_001350251.1):c.506A>G (p.E169G), SDCCAG8(NM_006642.5):c.1409A>G (p.E470G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000732509" "0" "90" "1" "243480095" "243480095" "subst" "4.06375E-6" "00000" "SDCCAG8_000052" "g.243480095G>A" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.243316793G>A" "" "pathogenic" "" "0000735187" "3" "50" "1" "0" "0" "" "0" "00000" "NPHS2_000000" "g.?" "" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}" "" "NM_006642.3:1075T>G (S359A)" "" "Germline" "" "rs555521073" "0" "" "" "" "" "VUS" "" "0000759607" "1" "90" "1" "243468035" "243468035" "subst" "4.88174E-5" "00000" "SDCCAG8_000053" "g.243468035T>G" "" "{PMID:Carrigan 2016:27624628}" "" "" "" "Germline" "" "" "0" "" "" "g.243304733T>G" "" "pathogenic" "" "0000759608" "1" "90" "1" "243493893" "243493893" "subst" "4.0937E-6" "00000" "SDCCAG8_000054" "g.243493893C>T" "" "{PMID:Carrigan 2016:27624628}" "" "" "" "Germline" "" "" "0" "" "" "g.243330591C>T" "" "pathogenic" "" "0000759620" "2" "90" "1" "0" "0" "" "0" "00000" "NPHS2_000000" "g.?" "" "{PMID:Carrigan 2016:27624628}" "" "p.Arg374*" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000759621" "2" "90" "1" "0" "0" "" "0" "00000" "NPHS2_000000" "g.?" "" "{PMID:Carrigan 2016:27624628}" "" "p.Tyr232*" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000759700" "0" "50" "1" "243542143" "243542143" "subst" "6.91018E-5" "00000" "SDCCAG8_000055" "g.243542143G>A" "" "{PMID:Lindstrand 2016:27486776}" "" "" "hypomorph" "Germline" "" "" "0" "" "" "g.243378841G>A" "" "VUS" "" "0000795053" "0" "90" "1" "0" "0" "" "0" "00000" "NPHS2_000000" "g.?" "" "{PMID:M\'hamdi 2014:23432027}" "" "p.R464K" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000799255" "0" "90" "1" "243542120" "243542120" "dup" "0" "02326" "SDCCAG8_000056" "g.243542120dup" "" "" "" "SDCCAG8(NM_006642.5):c.1571dupT (p.T525Nfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000799256" "0" "30" "1" "243652388" "243652388" "subst" "0" "01943" "SDCCAG8_000057" "g.243652388G>A" "" "" "" "SDCCAG8(NM_001350251.1):c.1155G>A (p.Q385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799257" "0" "90" "1" "243828121" "243828121" "subst" "0" "02327" "SDCCAG8_000058" "g.243828121C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000811891" "0" "70" "1" "243589749" "243589749" "subst" "0" "00000" "SDCCAG8_000059" "g.243589749G>A" "" "{PMID:Gao 2019:31054281}" "" "c.1874G>A, p.Ser625Asn" "heterozygous" "Germline" "?" "" "0" "" "" "g.243426447G>A" "" "likely pathogenic" "" "0000813995" "0" "50" "1" "243542062" "243542062" "subst" "1.21959E-5" "00000" "SDCCAG8_000060" "g.243542062C>G" "" "{PMID:Redin-2012:22773737}" "" "SDCCAG8/BBS16:p.[Q505E];[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000814071" "0" "70" "1" "0" "0" "" "0" "00000" "NPHS2_000000" "g.?" "" "{PMID:M\'hamdi-2014:23432027}" "" "BBS16: p.R464K" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817576" "3" "70" "1" "243471399" "243471402" "del" "0" "00000" "SDCCAG8_000061" "g.243471399_243471402del" "" "{PMID:Yamamura 2017:26968886}" "" "c.845_848delTTTG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000820498" "1" "70" "1" "243468435" "243468435" "subst" "0" "00000" "SDCCAG8_000062" "g.243468435C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "SDCCAG8, variant 1: c.740+356C>T/p.?, variant 2: c.740+356C>T/p.?" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.243305133C>T" "" "likely pathogenic" "" "0000822953" "3" "70" "1" "243507604" "243507604" "del" "0" "00000" "SDCCAG8_000064" "g.243507604del" "" "{PMID:Méjécase 2020:32783370}" "" "SDCCAG8 c.1444del p.(Thr482Leufs * 12)" "homozygous" "Unknown" "?" "" "0" "" "" "g.243344302del" "" "likely pathogenic" "" "0000823264" "0" "50" "1" "243468435" "243468435" "subst" "0" "00000" "SDCCAG8_000062" "g.243468435C>T" "" "{PMID:Hull 2020:32856788}" "" "SDCCAG8 nucleotide 1, protein 1:c.740+356C>T, p.? nucleotide 2, protein 2:c.1324dupC, p.Gln442Profs*22" "heterozygous, ACMG unclassified - no access to supplementary table 2" "Germline" "yes" "" "0" "" "" "g.243305133C>T" "" "VUS" "" "0000823292" "0" "50" "1" "243504443" "243504443" "dup" "0" "00000" "SDCCAG8_000063" "g.243504443dup" "" "{PMID:Hull 2020:32856788}" "" "SDCCAG8 nucleotide 1, protein 1:c.740+356C>T, p.? nucleotide 2, protein 2:c.1324dupC, p.Gln442Profs*22" "heterozygous, ACMG unclassified - no access to supplementary table 2" "Germline" "yes" "" "0" "" "" "g.243341141dup" "" "VUS" "" "0000834106" "3" "70" "1" "243471399" "243471402" "del" "0" "00006" "SDCCAG8_000061" "g.243471399_243471402del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.845(exon8)_c.848(exon8)ins" "variant description corrected by authors (e-mail)" "Germline" "" "" "0" "" "" "g.243308097_243308100del" "" "likely pathogenic" "ACMG" "0000845912" "1" "90" "1" "243471399" "243471402" "del" "0" "00000" "SDCCAG8_000061" "g.243471399_243471402del" "" "{PMID:Kang 2016:27491411}" "" "SDCCAG8/ c.845_848delTTTG, p.Cys283fs*1" "heterozygous" "Unknown" "?" "" "0" "" "" "g.243308097_243308100del" "" "pathogenic" "" "0000845913" "2" "90" "1" "243504420" "243504420" "del" "0" "00000" "SDCCAG8_000065" "g.243504420del" "" "{PMID:Kang 2016:27491411}" "" "NPHP10 c.1300delA, p.Asn434Ilefs*28" "heterozygous" "Unknown" "?" "" "0" "" "" "g.243341118del" "" "pathogenic" "" "0000848669" "0" "30" "1" "243434337" "243434337" "subst" "0.00100343" "02326" "SDCCAG8_000008" "g.243434337C>T" "" "" "" "SDCCAG8(NM_006642.3):c.278C>T (p.(Pro93Leu)), SDCCAG8(NM_006642.4):c.278C>T (p.P93L), SDCCAG8(NM_006642.5):c.278C>T (p.P93L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848670" "0" "10" "1" "243434338" "243434338" "subst" "0.00248229" "02326" "SDCCAG8_000009" "g.243434338G>A" "" "" "" "SDCCAG8(NM_001350248.1):c.279G>A (p.P93=), SDCCAG8(NM_006642.5):c.279G>A (p.P93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848671" "0" "30" "1" "243493867" "243493867" "subst" "0.000503676" "02326" "SDCCAG8_000035" "g.243493867G>A" "" "" "" "SDCCAG8(NM_001350251.1):c.191G>A (p.R64K), SDCCAG8(NM_006642.3):c.1094G>A (p.(Arg365Lys)), SDCCAG8(NM_006642.5):c.1094G>A (p.R365K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848672" "0" "30" "1" "243542152" "243542152" "subst" "4.06524E-6" "01943" "SDCCAG8_000070" "g.243542152C>T" "" "" "" "SDCCAG8(NM_001350251.1):c.700C>T (p.L234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848673" "0" "70" "1" "243778451" "243778451" "subst" "0" "01804" "SDCCAG8_000072" "g.243778451G>A" "" "" "" "AKT3(NM_001206729.1):c.574C>T (p.(His192Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000857400" "0" "30" "1" "243433438" "243433438" "subst" "2.43726E-5" "01943" "SDCCAG8_000066" "g.243433438A>G" "" "" "" "SDCCAG8(NM_001350248.1):c.99A>G (p.T33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857401" "0" "50" "1" "243456444" "243456444" "subst" "8.12209E-6" "02330" "SDCCAG8_000067" "g.243456444G>A" "" "" "" "SDCCAG8(NM_001350248.2):c.598G>A (p.E200K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857402" "0" "50" "1" "243456702" "243456702" "subst" "0" "01943" "SDCCAG8_000068" "g.243456702A>G" "" "" "" "SDCCAG8(NM_001350248.1):c.677A>G (p.N226S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857403" "0" "50" "1" "243468034" "243468034" "subst" "2.03399E-5" "01943" "SDCCAG8_000069" "g.243468034A>C" "" "" "" "SDCCAG8(NM_001350248.1):c.791A>C (p.Y264S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857405" "0" "30" "1" "243727130" "243727130" "subst" "7.77204E-5" "01943" "SDCCAG8_000071" "g.243727130G>A" "" "" "" "AKT3(NM_005465.5):c.840C>T (p.D280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000879699" "3" "70" "1" "" "" "" "" "00000" "SDCCAG8_000073" "g.(243437959_243449573)_(g.243468080_243471290)del" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.421-?_740+?del, p.E141_R247del107fs" "homozygous" "Germline" "yes" "" "0" "" "" "g.(243274657_243286271)_(243304778_243307988)del" "" "likely pathogenic" "" "0000879700" "3" "70" "1" "" "" "" "" "00000" "SDCCAG8_000073" "g.(243437959_243449573)_(g.243468080_243471290)del" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.421-?_740+?del, p.E141_R247del107fs" "homozygous" "Germline" "yes" "" "0" "" "" "g.(243274657_243286271)_(243304778_243307988)del" "" "likely pathogenic" "" "0000879701" "3" "70" "1" "243468018" "243468018" "subst" "8.14956E-6" "00000" "SDCCAG8_000074" "g.243468018A>T" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.679A>T, p.K227X" "homozygous" "Germline" "yes" "" "0" "" "" "g.243304716A>T" "" "likely pathogenic" "" "0000879702" "3" "70" "1" "243468018" "243468018" "subst" "8.14956E-6" "00000" "SDCCAG8_000074" "g.243468018A>T" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.679A>T, p.K227X" "homozygous" "Germline" "yes" "" "0" "" "" "g.243304716A>T" "" "likely pathogenic" "" "0000879703" "1" "70" "1" "243468035" "243468035" "subst" "4.88174E-5" "00000" "SDCCAG8_000053" "g.243468035T>G" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.696T>G, p.Y232X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.243304733T>G" "" "likely pathogenic" "" "0000879704" "1" "70" "1" "243468035" "243468035" "subst" "4.88174E-5" "00000" "SDCCAG8_000053" "g.243468035T>G" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.696T>G, p.Y232X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.243304733T>G" "" "likely pathogenic" "" "0000879705" "1" "70" "1" "243468035" "243468035" "subst" "4.88174E-5" "00000" "SDCCAG8_000053" "g.243468035T>G" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.696T>G, p.Y232X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.243304733T>G" "" "likely pathogenic" "" "0000879706" "3" "70" "1" "243468435" "243468435" "subst" "0" "00000" "SDCCAG8_000062" "g.243468435C>T" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.740+356C>T, loss of ESE site (aberrant ins IVS7) introducing an in-frame stop codon" "homozygous" "Germline" "yes" "" "0" "" "" "g.243305133C>T" "" "likely pathogenic" "" "0000879707" "3" "70" "1" "243468435" "243468435" "subst" "0" "00000" "SDCCAG8_000062" "g.243468435C>T" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.740+356C>T, loss of ESE site (aberrant ins IVS7) introducing an in-frame stop codon" "homozygous" "Germline" "yes" "" "0" "" "" "g.243305133C>T" "" "likely pathogenic" "" "0000879708" "3" "70" "1" "243468435" "243468435" "subst" "0" "00000" "SDCCAG8_000062" "g.243468435C>T" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.740+356C>T, loss of ESE site (aberrant ins IVS7) introducing an in-frame stop codon" "homozygous" "Germline" "yes" "" "0" "" "" "g.243305133C>T" "" "likely pathogenic" "" "0000879709" "3" "70" "1" "243468435" "243468435" "subst" "0" "00000" "SDCCAG8_000062" "g.243468435C>T" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.740+356C>T, loss of ESE site (aberrant ins IVS7) introducing an in-frame stop codon" "homozygous" "Germline" "yes" "" "0" "" "" "g.243305133C>T" "" "likely pathogenic" "" "0000879710" "3" "70" "1" "243480196" "243480196" "subst" "0" "00000" "SDCCAG8_000076" "g.243480196G>A" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.1068+1G>A, obligatory splice site" "homozygous" "Germline" "yes" "" "0" "" "" "g.243316894G>A" "" "likely pathogenic" "" "0000879711" "3" "70" "1" "243504458" "243504458" "dup" "0" "00000" "SDCCAG8_000077" "g.243504458dup" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.1339-1340insG, p.E447fsX463" "homozygous" "Germline" "yes" "" "0" "" "" "g.243341156dup" "" "likely pathogenic" "" "0000879712" "3" "70" "1" "243504458" "243504458" "dup" "0" "00000" "SDCCAG8_000077" "g.243504458dup" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.1339-1340insG, p.E447fsX463" "homozygous" "Germline" "yes" "" "0" "" "" "g.243341156dup" "" "likely pathogenic" "" "0000879713" "3" "70" "1" "243507580" "243507580" "del" "0" "00000" "SDCCAG8_000049" "g.243507580del" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.1420delG, p.E474fsX493" "homozygous" "Germline" "yes" "" "0" "" "" "g.243344278del" "" "likely pathogenic" "" "0000879714" "3" "70" "1" "243507580" "243507580" "del" "0" "00000" "SDCCAG8_000049" "g.243507580del" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.1420delG, p.E474fsX493" "homozygous" "Germline" "yes" "" "0" "" "" "g.243344278del" "" "likely pathogenic" "" "0000879715" "1" "70" "1" "243507604" "243507604" "del" "0" "00000" "SDCCAG8_000064" "g.243507604del" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.1444delA, p.T482fsX493" "heterozygous" "Germline" "yes" "" "0" "" "" "g.243344302del" "" "likely pathogenic" "" "0000879716" "3" "70" "1" "243581321" "243581321" "subst" "0" "00000" "SDCCAG8_000079" "g.243581321T>G" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.1796T>G, p.L599X" "homozygous" "Germline" "yes" "" "0" "" "" "g.243418019T>G" "" "likely pathogenic" "" "0000879717" "3" "70" "1" "243581321" "243581321" "subst" "0" "00000" "SDCCAG8_000079" "g.243581321T>G" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.1796T>G, p.L599X" "homozygous" "Germline" "yes" "" "0" "" "" "g.243418019T>G" "" "likely pathogenic" "" "0000879718" "3" "70" "1" "243589821" "243589824" "del" "0" "00000" "SDCCAG8_000080" "g.243589821_243589824del" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.1946-1949delGTGT, p.C649fsX658" "homozygous" "Germline" "yes" "" "0" "" "" "g.243426519_243426522del" "" "likely pathogenic" "" "0000879719" "2" "70" "1" "243468080" "243468080" "del" "0" "00000" "SDCCAG8_000075" "g.243468080del" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.740+1delG, p.R247fsX250" "heterozygous" "Germline" "yes" "" "0" "" "" "g.243304778del" "" "likely pathogenic" "" "0000879720" "2" "70" "1" "243468080" "243468080" "del" "0" "00000" "SDCCAG8_000075" "g.243468080del" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.740+1delG, p.R247fsX250" "heterozygous" "Germline" "yes" "" "0" "" "" "g.243304778del" "" "likely pathogenic" "" "0000879721" "2" "70" "1" "243468080" "243468080" "del" "0" "00000" "SDCCAG8_000075" "g.243468080del" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.740+1delG, p.R247fsX250" "heterozygous" "Germline" "yes" "" "0" "" "" "g.243304778del" "" "likely pathogenic" "" "0000879722" "2" "70" "1" "243579015" "243579018" "del" "0" "00000" "SDCCAG8_000078" "g.243579015_243579018del" "0/270 healthy control individuals" "{PMID:Otto 2010:20835237}" "" "SDCCAG8 c.1627_1630delGATA, p.D543fsX566" "heterozygous" "Germline" "yes" "" "0" "" "" "g.243415713_243415716del" "" "likely pathogenic" "" "0000879723" "3" "70" "1" "243493893" "243493893" "subst" "4.0937E-6" "00000" "SDCCAG8_000054" "g.243493893C>T" "0/192 ethnically-matched controls" "{PMID:Schaefer 2011:22190896}" "" "SDCCAG8 p.R374X, c.1120C>T" "homozygous" "Germline" "yes" "" "0" "" "" "g.243330591C>T" "" "likely pathogenic" "" "0000879724" "11" "90" "1" "243507604" "243507604" "del" "0" "00000" "SDCCAG8_000064" "g.243507604del" "" "{PMID:Billingsley 2012:22626039}" "" "SDCCAG8 Thr482LysfsX12" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous; additionally TRIM32: [R299Q] + [=], BBS5: [N251D] + [=]" "Germline" "yes" "" "0" "" "" "g.243344302del" "" "pathogenic" "" "0000879725" "11" "90" "1" "243507604" "243507604" "del" "0" "00000" "SDCCAG8_000064" "g.243507604del" "" "{PMID:Billingsley 2012:22626039}" "" "SDCCAG8 Thr482LysfsX12" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.243344302del" "" "pathogenic" "" "0000879726" "21" "90" "1" "243579015" "243579018" "del" "0" "00000" "SDCCAG8_000078" "g.243579015_243579018del" "" "{PMID:Billingsley 2012:22626039}" "" "SDCCAG8 Asp543AlafsX24" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous; additionally TRIM32: [R299Q] + [=], BBS5: [N251D] + [=]" "Germline" "yes" "" "0" "" "" "g.243415713_243415716del" "" "pathogenic" "" "0000879727" "21" "90" "1" "243579015" "243579018" "del" "0" "00000" "SDCCAG8_000078" "g.243579015_243579018del" "" "{PMID:Billingsley 2012:22626039}" "" "SDCCAG8 Asp543AlafsX24" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.243415713_243415716del" "" "pathogenic" "" "0000883336" "0" "90" "1" "243468018" "243468018" "subst" "8.14956E-6" "02326" "SDCCAG8_000074" "g.243468018A>T" "" "" "" "SDCCAG8(NM_006642.5):c.679A>T (p.K227*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883337" "0" "90" "1" "243468435" "243468435" "subst" "0" "02326" "SDCCAG8_000062" "g.243468435C>T" "" "" "" "SDCCAG8(NM_006642.5):c.740+356C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883338" "0" "30" "1" "243471294" "243471294" "subst" "0.000174922" "02330" "SDCCAG8_000014" "g.243471294C>T" "" "" "" "SDCCAG8(NM_001350248.2):c.840C>T (p.N280=), SDCCAG8(NM_006642.4):c.744C>T (p.N248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883339" "0" "30" "1" "243471348" "243471348" "subst" "0.00120257" "02330" "SDCCAG8_000033" "g.243471348T>C" "" "" "" "SDCCAG8(NM_001350248.2):c.894T>C (p.H298=), SDCCAG8(NM_006642.4):c.798T>C (p.H266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000902109" "1" "70" "1" "243468435" "243468435" "subst" "0" "00000" "SDCCAG8_000062" "g.243468435C>T" "" "{PMID:Tay 2020:32432520}" "" "SDCCAG8 c.740+356C>T, p.?" "heterozygous" "Germline" "yes" "" "0" "" "" "g.243305133C>T" "" "likely pathogenic" "" "0000902110" "2" "70" "1" "243504443" "243504443" "dup" "0" "00000" "SDCCAG8_000063" "g.243504443dup" "" "{PMID:Tay 2020:32432520}" "" "SDCCAG8 c.1324dup, p.(Gln442Profs*22)" "heterozygous; zebrafish model injected with SNRNP200 c.C6088T mutant mRNA: high ratios of deformation and loss of photoreceptors; no mutation in the affected niece" "Germline" "yes" "" "0" "" "" "g.243341141dup" "" "likely pathogenic" "" "0000902115" "3" "90" "1" "243493996" "243493996" "subst" "0" "00000" "SDCCAG8_000081" "g.243493996T>A" "" "{PMID:Bahmanpour 2020:32926352}" "" "SDCCAG8 c.1221 + 2 T > A" "homozygous" "Germline" "yes" "" "0" "" "" "g.243330694T>A" "" "pathogenic" "" "0000902116" "3" "90" "1" "243493996" "243493996" "subst" "0" "00000" "SDCCAG8_000081" "g.243493996T>A" "" "{PMID:Bahmanpour 2020:32926352}" "" "SDCCAG8 c.1221 + 2 T > A" "homozygous" "Germline" "yes" "" "0" "" "" "g.243330694T>A" "" "pathogenic" "" "0000911021" "0" "30" "1" "243437831" "243437831" "subst" "0" "02330" "SDCCAG8_000082" "g.243437831A>T" "" "" "" "SDCCAG8(NM_001350251.2):c.-1067-14A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958839" "0" "70" "1" "243589821" "243589824" "del" "0" "00006" "SDCCAG8_000080" "g.243589821_243589824del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.243426519_243426522del" "" "likely pathogenic (recessive)" "ACMG" "0000959268" "0" "50" "1" "243468346" "243468346" "subst" "0" "00006" "SDCCAG8_000083" "g.243468346C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.243305044C>T" "" "VUS" "ACMG" "0000973842" "0" "30" "1" "243663098" "243663098" "subst" "0.000223954" "01804" "SDCCAG8_000084" "g.243663098A>C" "" "" "" "AKT3(NM_001206729.2):c.1355-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991050" "0" "50" "1" "243828083" "243828083" "subst" "0" "01804" "SDCCAG8_000085" "g.243828083G>T" "" "" "" "AKT3(NM_005465.4):c.275C>A (p.(Pro92Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991051" "0" "50" "1" "243828095" "243828095" "subst" "0" "01804" "SDCCAG8_000086" "g.243828095T>C" "" "" "" "AKT3(NM_005465.4):c.263A>G (p.(His88Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013304" "0" "10" "1" "243736225" "243736225" "dup" "0" "02330" "SDCCAG8_000087" "g.243736225dup" "" "" "" "AKT3(NM_005465.7):c.819+17dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001024143" "0" "50" "1" "244006448" "244006448" "subst" "0" "02325" "SDCCAG8_000088" "g.244006448C>G" "" "" "" "AKT3(NM_005465.7):c.25G>C (p.E9Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031906" "0" "50" "1" "243437924" "243437924" "subst" "0" "01804" "SDCCAG8_000089" "g.243437924T>G" "" "" "" "SDCCAG8(NM_006642.5):c.386T>G (p.(Ile129Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031907" "0" "50" "1" "243456703" "243456703" "subst" "0" "01804" "SDCCAG8_000090" "g.243456703C>G" "" "" "" "SDCCAG8(NM_001350248.2):c.678C>G (p.(Asn226Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031908" "0" "30" "1" "243727160" "243727160" "subst" "1.30757E-5" "01804" "SDCCAG8_000091" "g.243727160A>C" "" "" "" "AKT3(NM_005465.7):c.820-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SDCCAG8 ## Count = 162 "{{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}}" "0000003608" "00001564" "30" "2113" "-3331" "2113" "-3331" "c.2113-3331A>G" "r.(=)" "p.(=)" "i" "0000245455" "00001564" "10" "93" "0" "93" "0" "c.93A>G" "r.(?)" "p.(Gln31=)" "" "0000245456" "00001564" "10" "1914" "0" "1914" "0" "c.1914A>G" "r.(?)" "p.(Leu638=)" "" "0000245466" "00001564" "10" "1409" "0" "1409" "0" "c.1409A>G" "r.(?)" "p.(Glu470Gly)" "" "0000245530" "00001564" "30" "233" "0" "233" "0" "c.233A>G" "r.(?)" "p.(Lys78Arg)" "" "0000247981" "00001564" "10" "1134" "0" "1134" "0" "c.1134A>T" "r.(?)" "p.(Glu378Asp)" "" "0000249501" "00001564" "30" "75264" "0" "75264" "0" "c.*73122A>T" "r.(=)" "p.(=)" "" "0000251219" "00001564" "10" "930" "-21" "930" "-21" "c.930-21A>G" "r.(=)" "p.(=)" "" "0000253242" "00001564" "10" "1134" "0" "1134" "0" "c.1134A>T" "r.(?)" "p.(Glu378Asp)" "" "0000253740" "00001564" "10" "75281" "0" "75281" "0" "c.*73139A>T" "r.(=)" "p.(=)" "" "0000255100" "00001564" "30" "1815" "0" "1815" "0" "c.1815A>G" "r.(?)" "p.(Thr605=)" "" "0000255187" "00001564" "30" "167269" "0" "167269" "0" "c.*165127A>G" "r.(=)" "p.(=)" "" "0000255188" "00001564" "30" "197935" "0" "197935" "0" "c.*195793A>T" "r.(=)" "p.(=)" "" "0000255371" "00001564" "70" "139981" "0" "139981" "0" "c.*137839A>T" "r.(=)" "p.(=)" "" "0000260050" "00001564" "70" "116042" "0" "116042" "0" "c.*113900C>T" "r.(=)" "p.(=)" "" "0000262188" "00001564" "70" "7653" "0" "7653" "0" "c.*5511G>A" "r.(=)" "p.(=)" "" "0000262189" "00001564" "30" "7630" "0" "7630" "0" "c.*5488G>C" "r.(=)" "p.(=)" "" "0000262190" "00001564" "10" "148407" "0" "148407" "0" "c.*146265G>A" "r.(=)" "p.(=)" "" "0000262191" "00001564" "10" "116121" "0" "116121" "0" "c.*113979G>A" "r.(=)" "p.(=)" "" "0000262192" "00001564" "10" "75280" "0" "75280" "0" "c.*73138del" "r.(?)" "p.(=)" "" "0000262193" "00001564" "10" "66223" "0" "66223" "0" "c.*64081T>C" "r.(=)" "p.(=)" "" "0000262194" "00001564" "10" "66068" "0" "66068" "0" "c.*63926G>T" "r.(=)" "p.(=)" "" "0000295702" "00001564" "50" "1287" "0" "1287" "0" "c.1287G>T" "r.(?)" "p.(Lys429Asn)" "" "0000295703" "00001564" "50" "1337" "0" "1337" "0" "c.1337G>C" "r.(?)" "p.(Arg446Pro)" "" "0000295704" "00001564" "30" "1429" "0" "1429" "0" "c.1429G>C" "r.(?)" "p.(Glu477Gln)" "" "0000295705" "00001564" "30" "1474" "-6" "1474" "-6" "c.1474-6C>T" "r.(=)" "p.(=)" "" "0000295706" "00001564" "10" "267" "0" "267" "0" "c.267T>C" "r.(?)" "p.(Ser89=)" "" "0000295707" "00001564" "50" "278" "0" "278" "0" "c.278C>T" "r.(?)" "p.(Pro93Leu)" "" "0000295708" "00001564" "10" "279" "0" "279" "0" "c.279G>A" "r.(?)" "p.(Pro93=)" "" "0000295710" "00001564" "50" "778" "0" "778" "0" "c.778C>G" "r.(?)" "p.(Leu260Val)" "" "0000298047" "00001564" "10" "1725" "0" "1725" "0" "c.1725G>A" "r.(?)" "p.(Glu575=)" "" "0000301995" "00001564" "10" "1474" "-37" "1474" "-37" "c.1474-37T>G" "r.(=)" "p.(=)" "" "0000307844" "00001564" "50" "-4" "0" "-4" "0" "c.-4G>A" "r.(?)" "p.(=)" "" "0000307845" "00001564" "30" "1474" "-6" "1474" "-6" "c.1474-6C>T" "r.(=)" "p.(=)" "" "0000307846" "00001564" "10" "1725" "0" "1725" "0" "c.1725G>A" "r.(?)" "p.(Glu575=)" "" "0000307847" "00001564" "30" "237" "0" "237" "0" "c.237T>A" "r.(?)" "p.(Asp79Glu)" "" "0000307848" "00001564" "50" "278" "0" "278" "0" "c.278C>T" "r.(?)" "p.(Pro93Leu)" "" "0000307849" "00001564" "30" "279" "0" "279" "0" "c.279G>A" "r.(?)" "p.(Pro93=)" "" "0000307850" "00001564" "30" "348" "0" "348" "0" "c.348C>T" "r.(?)" "p.(His116=)" "" "0000307851" "00001564" "30" "597" "0" "597" "0" "c.597C>A" "r.(?)" "p.(Gly199=)" "" "0000307852" "00001564" "30" "676" "-9" "676" "-9" "c.676-9T>C" "r.(=)" "p.(=)" "" "0000307853" "00001564" "30" "744" "0" "744" "0" "c.744C>T" "r.(?)" "p.(Asn248=)" "" "0000307854" "00001564" "10" "912" "0" "912" "0" "c.912C>T" "r.(?)" "p.(Thr304=)" "" "0000321409" "00001564" "50" "41" "0" "41" "0" "c.41T>C" "r.(?)" "p.(Leu14Pro)" "" "0000321410" "00001564" "30" "278" "0" "278" "0" "c.278C>T" "r.(?)" "p.(Pro93Leu)" "" "0000321411" "00001564" "50" "7653" "0" "7653" "0" "c.*5511G>A" "r.(=)" "p.(=)" "" "0000506678" "00001564" "10" "93" "0" "93" "0" "c.93A>G" "r.(?)" "p.(Gln31=)" "" "0000506679" "00001564" "50" "191" "0" "191" "0" "c.191C>T" "r.(?)" "p.(Ala64Val)" "" "0000506680" "00001564" "30" "233" "0" "233" "0" "c.233A>G" "r.(?)" "p.(Lys78Arg)" "" "0000506681" "00001564" "50" "371" "0" "371" "0" "c.371A>G" "r.(?)" "p.(Asp124Gly)" "" "0000506682" "00001564" "30" "420" "3" "420" "3" "c.420+3A>G" "r.spl?" "p.?" "" "0000506683" "00001564" "30" "572" "0" "572" "0" "c.572C>T" "r.(?)" "p.(Thr191Ile)" "" "0000506684" "00001564" "30" "675" "187" "675" "187" "c.675+187T>C" "r.(=)" "p.(=)" "" "0000506685" "00001564" "10" "798" "0" "798" "0" "c.798T>C" "r.(?)" "p.(His266=)" "" "0000506686" "00001564" "30" "925" "0" "925" "0" "c.925G>A" "r.(?)" "p.(Val309Ile)" "" "0000506687" "00001564" "30" "1094" "0" "1094" "0" "c.1094G>A" "r.(?)" "p.(Arg365Lys)" "" "0000506688" "00001564" "30" "1221" "4" "1221" "4" "c.1221+4C>G" "r.spl?" "p.?" "" "0000506695" "00001564" "30" "1761" "0" "1761" "0" "c.1761G>A" "r.(?)" "p.(Leu587=)" "" "0000506700" "00001564" "10" "2112" "4" "2112" "4" "c.2112+4C>G" "r.spl?" "p.?" "" "0000506701" "00001564" "30" "14699" "0" "14699" "0" "c.*12557T>C" "r.(=)" "p.(=)" "" "0000506702" "00001564" "10" "75279" "0" "75280" "0" "c.*73137_*73138del" "r.(=)" "p.(=)" "" "0000506703" "00001564" "10" "75280" "0" "75280" "0" "c.*73138del" "r.(?)" "p.(=)" "" "0000506704" "00001564" "30" "75281" "0" "75281" "0" "c.*73139A>T" "r.(=)" "p.(=)" "" "0000506705" "00001564" "30" "75282" "0" "75282" "0" "c.*73140C>T" "r.(=)" "p.(=)" "" "0000506706" "00001564" "30" "75283" "0" "75283" "0" "c.*73141C>T" "r.(=)" "p.(=)" "" "0000605587" "00001564" "30" "597" "0" "597" "0" "c.597C>A" "r.(?)" "p.(Gly199=)" "" "0000605588" "00001564" "50" "1616" "3" "1616" "3" "c.1616+3A>T" "r.spl?" "p.?" "" "0000605589" "00001564" "90" "75299" "0" "75299" "0" "c.*73157A>G" "r.(=)" "p.(=)" "" "0000605590" "00001564" "30" "139977" "0" "139977" "0" "c.*137835A>G" "r.(=)" "p.(=)" "" "0000620590" "00001564" "50" "778" "0" "778" "0" "c.778C>G" "r.(?)" "p.(Leu260Val)" "" "0000620591" "00001564" "50" "964" "0" "964" "0" "c.964G>A" "r.(?)" "p.(Val322Ile)" "" "0000647651" "00001564" "50" "278" "0" "278" "0" "c.278C>T" "r.(?)" "p.(Pro93Leu)" "" "0000647652" "00001564" "30" "912" "0" "912" "0" "c.912C>T" "r.(=)" "p.(=)" "" "0000653978" "00001564" "30" "1986" "-4" "1986" "-4" "c.1986-4C>G" "r.spl?" "p.?" "" "0000653979" "00001564" "30" "2002" "0" "2002" "0" "c.2002A>G" "r.(?)" "p.(Lys668Glu)" "" "0000667222" "00001564" "90" "1420" "0" "1420" "0" "c.1420del" "r.(?)" "p.(Glu474Serfs*20)" "" "0000685478" "00001564" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Gln572*)" "" "0000688111" "00001564" "50" "233" "0" "233" "0" "c.233A>G" "r.(?)" "p.(Lys78Arg)" "" "0000688112" "00001564" "50" "741" "-105" "741" "-105" "c.741-105G>T" "r.(=)" "p.(=)" "" "0000717364" "00001564" "30" "93" "0" "93" "0" "c.93A>G" "r.(?)" "p.(Gln31=)" "" "0000717365" "00001564" "30" "1094" "0" "1094" "0" "c.1094G>A" "r.(?)" "p.(Arg365Lys)" "" "0000717366" "00001564" "50" "1409" "0" "1409" "0" "c.1409A>G" "r.(?)" "p.(Glu470Gly)" "" "0000732509" "00001564" "90" "968" "0" "968" "0" "c.968G>A" "r.(?)" "p.(Arg323Lys)" "" "0000735187" "00001564" "50" "1075" "0" "1075" "0" "c.1075T>G" "r.?" "p.?" "" "0000759607" "00001564" "90" "696" "0" "696" "0" "c.696T>G" "r.(?)" "p.(Tyr232*)" "" "0000759608" "00001564" "90" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Arg374*)" "" "0000759620" "00001564" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000759621" "00001564" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000759700" "00001564" "50" "1594" "0" "1594" "0" "c.1594G>A" "r.(?)" "p.(Glu532Lys)" "" "0000795053" "00001564" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000799255" "00001564" "90" "1571" "0" "1571" "0" "c.1571dup" "r.(?)" "p.(Thr525Asnfs*8)" "" "0000799256" "00001564" "30" "2058" "0" "2058" "0" "c.2058G>A" "r.(?)" "p.(Gln686=)" "" "0000799257" "00001564" "90" "167176" "0" "167176" "0" "c.*165034C>G" "r.(=)" "p.(=)" "" "0000811891" "00001564" "70" "1874" "0" "1874" "0" "c.1874G>A" "r.(?)" "p.(Ser625Asn)" "" "0000813995" "00001564" "50" "1513" "0" "1513" "0" "c.1513C>G" "r.(?)" "p.(Gln505Glu)" "13" "0000814071" "00001564" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000817576" "00001564" "70" "849" "0" "852" "0" "c.849_852del" "r.(?)" "p.(Cys283*)" "8" "0000820498" "00001564" "70" "740" "356" "740" "356" "c.740+356C>T" "r.spl" "p.(?)" "" "0000822953" "00001564" "70" "1444" "0" "1444" "0" "c.1444del" "r.(?)" "p.(Thr482Leufs*12)" "" "0000823264" "00001564" "50" "740" "356" "740" "356" "c.740+356C>T" "r.spl" "p.(?)" "" "0000823292" "00001564" "50" "1324" "0" "1324" "0" "c.1324dup" "r.(?)" "p.(Gln442Profs*22)" "" "0000834106" "00001564" "70" "849" "0" "852" "0" "c.849_852del" "r.(?)" "p.(Cys283*)" "8" "0000845912" "00001564" "90" "845" "0" "848" "0" "c.845_848delTTTG" "r.(?)" "p.(Cys283*)" "" "0000845913" "00001564" "90" "1300" "0" "1300" "0" "c.1300delA" "r.(?)" "p.(Asn434Ilefs*28)" "" "0000848669" "00001564" "30" "278" "0" "278" "0" "c.278C>T" "r.(?)" "p.(Pro93Leu)" "" "0000848670" "00001564" "10" "279" "0" "279" "0" "c.279G>A" "r.(?)" "p.(Pro93=)" "" "0000848671" "00001564" "30" "1094" "0" "1094" "0" "c.1094G>A" "r.(?)" "p.(Arg365Lys)" "" "0000848672" "00001564" "30" "1603" "0" "1603" "0" "c.1603C>T" "r.(?)" "p.(Leu535=)" "" "0000848673" "00001564" "70" "117506" "0" "117506" "0" "c.*115364G>A" "r.(=)" "p.(=)" "" "0000857400" "00001564" "30" "99" "0" "99" "0" "c.99A>G" "r.(?)" "p.(Thr33=)" "" "0000857401" "00001564" "50" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Glu200Lys)" "" "0000857402" "00001564" "50" "675" "181" "675" "181" "c.675+181A>G" "r.(=)" "p.(=)" "" "0000857403" "00001564" "50" "695" "0" "695" "0" "c.695A>C" "r.(?)" "p.(Tyr232Ser)" "" "0000857405" "00001564" "30" "66185" "0" "66185" "0" "c.*64043G>A" "r.(=)" "p.(=)" "" "0000879699" "00001564" "70" "421" "-1" "740" "1" "c.(420+1_421-1)_(740+1_741-1)del" "r.(?)" "p.(Glu141_Arg247delfs)" "4i_7i" "0000879700" "00001564" "70" "421" "-1" "740" "1" "c.(420+1_421-1)_(740+1_741-1)del" "r.(?)" "p.(Glu141_Arg247delfs)" "4i_7i" "0000879701" "00001564" "70" "679" "0" "679" "0" "c.679A>T" "r.(?)" "p.(Lys227*)" "7" "0000879702" "00001564" "70" "679" "0" "679" "0" "c.679A>T" "r.(?)" "p.(Lys227*)" "7" "0000879703" "00001564" "70" "696" "0" "696" "0" "c.696T>G" "r.(?)" "p.(Tyr232*)" "7" "0000879704" "00001564" "70" "696" "0" "696" "0" "c.696T>G" "r.(?)" "p.(Tyr232*)" "7" "0000879705" "00001564" "70" "696" "0" "696" "0" "c.696T>G" "r.(?)" "p.(Tyr232*)" "7" "0000879706" "00001564" "70" "740" "356" "740" "356" "c.740+356C>T" "r.[740_741ins[740+235_740+346],740_741ins[740+235_740_346;741-202_741-106]]" "p.Asp249LysfsTer20" "7i" "0000879707" "00001564" "70" "740" "356" "740" "356" "c.740+356C>T" "r.[740_741ins[740+235_740+346],740_741ins[740+235_740_346;741-202_741-106]]" "p.Asp249LysfsTer20" "7i" "0000879708" "00001564" "70" "740" "356" "740" "356" "c.740+356C>T" "r.[740_741ins[740+235_740+346],740_741ins[740+235_740_346;741-202_741-106]]" "p.Asp249LysfsTer20" "7i" "0000879709" "00001564" "70" "740" "356" "740" "356" "c.740+356C>T" "r.[740_741ins[740+235_740+346],740_741ins[740+235_740_346;741-202_741-106]]" "p.Asp249LysfsTer20" "7i" "0000879710" "00001564" "70" "1068" "1" "1068" "1" "c.1068+1G>A" "r.spl" "p.?" "9i" "0000879711" "00001564" "70" "1339" "0" "1339" "0" "c.1339dup" "r.(?)" "p.(Glu447Glyfs*17)" "11" "0000879712" "00001564" "70" "1339" "0" "1339" "0" "c.1339dup" "r.(?)" "p.(Glu447Glyfs*17)" "11" "0000879713" "00001564" "70" "1420" "0" "1420" "0" "c.1420del" "r.(?)" "p.(Glu474Serfs*20)" "12" "0000879714" "00001564" "70" "1420" "0" "1420" "0" "c.1420del" "r.(?)" "p.(Glu474Serfs*20)" "12" "0000879715" "00001564" "70" "1444" "0" "1444" "0" "c.1444del" "r.(?)" "p.(Thr482Leufs*12)" "12" "0000879716" "00001564" "70" "1796" "0" "1796" "0" "c.1796T>G" "r.(?)" "p.(Leu599*)" "15" "0000879717" "00001564" "70" "1796" "0" "1796" "0" "c.1796T>G" "r.(?)" "p.(Leu599*)" "15" "0000879718" "00001564" "70" "1946" "0" "1949" "0" "c.1946_1949del" "r.(?)" "p.(Cys649Serfs*10)" "16" "0000879719" "00001564" "70" "740" "1" "740" "1" "c.740+1del" "r.spl" "p.?" "7i" "0000879720" "00001564" "70" "740" "1" "740" "1" "c.740+1del" "r.spl" "p.?" "7i" "0000879721" "00001564" "70" "740" "1" "740" "1" "c.740+1del" "r.spl" "p.?" "7i" "0000879722" "00001564" "70" "1628" "0" "1631" "0" "c.1628_1631del" "r.(?)" "p.(Asp543Alafs*24)" "12" "0000879723" "00001564" "70" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Arg374*)" "10" "0000879724" "00001564" "90" "1444" "0" "1444" "0" "c.1444del" "r.(?)" "p.(Thr482Leufs*12)" "10" "0000879725" "00001564" "90" "1444" "0" "1444" "0" "c.1444del" "r.(?)" "p.(Thr482Leufs*12)" "10" "0000879726" "00001564" "90" "1628" "0" "1631" "0" "c.1628_1631del" "r.(?)" "p.(Asp543Alafs*24)" "10" "0000879727" "00001564" "90" "1628" "0" "1631" "0" "c.1628_1631del" "r.(?)" "p.(Asp543Alafs*24)" "10" "0000883336" "00001564" "90" "679" "0" "679" "0" "c.679A>T" "r.(?)" "p.(Lys227*)" "" "0000883337" "00001564" "90" "740" "356" "740" "356" "c.740+356C>T" "r.(=)" "p.(=)" "" "0000883338" "00001564" "30" "744" "0" "744" "0" "c.744C>T" "r.(?)" "p.(Asn248=)" "" "0000883339" "00001564" "30" "798" "0" "798" "0" "c.798T>C" "r.(?)" "p.(His266=)" "" "0000902109" "00001564" "70" "740" "356" "740" "356" "c.740+356C>T" "r.spl" "p.?" "" "0000902110" "00001564" "70" "1324" "0" "1324" "0" "c.1324dup" "r.(?)" "p.(Gln442Profs*22)" "" "0000902115" "00001564" "90" "1221" "2" "1221" "2" "c.1221+2T>A" "r.spl" "p.?" "" "0000902116" "00001564" "90" "1221" "2" "1221" "2" "c.1221+2T>A" "r.spl" "p.?" "" "0000911021" "00001564" "30" "307" "-14" "307" "-14" "c.307-14A>T" "r.(=)" "p.(=)" "" "0000958839" "00001564" "70" "1946" "0" "1949" "0" "c.1946_1949del" "r.(?)" "p.(Cys649SerfsTer10)" "" "0000959268" "00001564" "50" "740" "267" "740" "267" "c.740+267C>T" "r.spl?" "p.?" "" "0000973842" "00001564" "30" "2153" "0" "2153" "0" "c.*11A>C" "r.(=)" "p.(=)" "" "0000991050" "00001564" "50" "167138" "0" "167138" "0" "c.*164996G>T" "r.(=)" "p.(=)" "" "0000991051" "00001564" "50" "167150" "0" "167150" "0" "c.*165008T>C" "r.(=)" "p.(=)" "" "0001013304" "00001564" "10" "75280" "0" "75280" "0" "c.*73138dup" "r.(?)" "p.(=)" "" "0001024143" "00001564" "50" "345503" "0" "345503" "0" "c.*343361C>G" "r.(=)" "p.(=)" "" "0001031906" "00001564" "50" "386" "0" "386" "0" "c.386T>G" "r.(?)" "p.(Ile129Ser)" "" "0001031907" "00001564" "50" "675" "182" "675" "182" "c.675+182C>G" "r.(=)" "p.(=)" "" "0001031908" "00001564" "30" "66215" "0" "66215" "0" "c.*64073A>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 59 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003608" "0000079200" "0000735187" "0000290962" "0000647651" "0000290963" "0000647652" "0000303826" "0000667222" "0000310567" "0000685478" "0000334589" "0000732509" "0000359976" "0000759607" "0000359976" "0000759620" "0000359977" "0000759608" "0000359977" "0000759621" "0000360035" "0000759700" "0000381578" "0000795053" "0000385008" "0000811891" "0000386463" "0000813995" "0000386513" "0000814071" "0000388818" "0000817576" "0000391153" "0000820498" "0000392610" "0000822953" "0000392829" "0000823264" "0000392829" "0000823292" "0000401063" "0000834106" "0000408905" "0000845912" "0000408905" "0000845913" "0000419610" "0000879699" "0000419611" "0000879700" "0000419612" "0000879701" "0000419613" "0000879702" "0000419614" "0000879703" "0000419614" "0000879719" "0000419615" "0000879704" "0000419615" "0000879720" "0000419616" "0000879705" "0000419616" "0000879721" "0000419617" "0000879706" "0000419618" "0000879707" "0000419619" "0000879708" "0000419620" "0000879709" "0000419621" "0000879710" "0000419622" "0000879711" "0000419623" "0000879712" "0000419624" "0000879713" "0000419625" "0000879714" "0000419626" "0000879715" "0000419626" "0000879722" "0000419627" "0000879716" "0000419628" "0000879717" "0000419629" "0000879718" "0000419630" "0000879723" "0000419631" "0000879724" "0000419631" "0000879726" "0000419632" "0000879725" "0000419632" "0000879727" "0000425383" "0000902109" "0000425383" "0000902110" "0000425385" "0000902115" "0000425386" "0000902116" "0000449072" "0000958839" "0000449072" "0000959268"