### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CYP4V2) # 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}}" "CYP4V2" "cytochrome P450, family 4, subfamily V, polypeptide 2" "4" "q35.2" "unknown" "NG_007965.1" "UD_132084547650" "" "https://www.LOVD.nl/CYP4V2" "" "1" "23198" "285440" "608614" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CYP4V2_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-16 00:00:00" "00006" "2020-11-13 11:48:06" "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}}" "00006030" "CYP4V2" "cytochrome P450, family 4, subfamily V, polypeptide 2" "001" "NM_207352.3" "" "NP_997235.3" "" "" "" "-304" "4400" "1578" "187112674" "187134617" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 27 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01680" "BCD" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "AR" "210370" "eyes" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01681" "MOPD1" "dwarfism, primordial, osteodysplastic, microcephalic, type 1 (MOPD-1, Taybi-Linder syndrome)" "AR" "210710" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01682" "SHEP6" "pigmentation, skin/hair/eye, variation in, type 6 (SHEP-6)" "AR" "210750" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01683" "BLM" "Bloom syndrome (BLM)" "AR" "210900" "" "growth restriction, microcephaly, malar rash, cancer predisposition, cardiomyopathy, elevated sister chromatid exchanges" "" "00006" "2014-09-25 23:29:40" "00006" "2024-05-02 19:53:20" "01684" "-" "bulbar palsy of childhood, progressive" "AR" "211500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01685" "BVVLS1" "Brown-Vialetto-Van Laere syndrome, type 1 (BVVLS1)" "AR" "211530" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01686" "PFIC1" "cholestasis, intrahepatic, familial, progressive, type 1 (PFIC-1)" "AR" "211600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01687" "CALJA" "Calcification of joints and arteries" "AR" "211800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01688" "CANDF2" "candidiasis, familial, type 2 (CANDF-2)" "AR" "212050" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01689" "CDG1A" "glycosylation, congenital disorder of, type Ia (CDG-1A)" "AR" "212065" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01690" "CDG2A" "glycosylation, congenital disorder of, type IIa (CDG-2A)" "AR" "212066" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01691" "CPN1D" "carboxypeptidase N deficiency (CPN1D)" "AR" "212070" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-11-30 13:51:21" "01692" "-" "cardiomyopathy, diltaed, with hypergonadotropic hypogonadism (Malouf syndrome)" "AD" "212112" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01693" "CACTD" "carnitine acylcarnitine translocase deficiency (CACTD)" "AR" "212138" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01694" "CDSP" "carnitine deficiency, systemic primary (CDSP)" "AR" "212140" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-03 14:59:18" "01695" "Sengers;MTDPS10" "Senger syndrome (mitochondrial DNA depletion syndrome, type 10 (cardiomyopathic type, MTDPS-10))" "AR" "212350" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-11-14 13:54:06" "01696" "ODRMD" "optic disc anomalies with retinal and/or macular dystrophy (ODRMD)" "AR" "212550" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01697" "CELIAC1" "celiac disease, susceptibility to, type 1 (CELIAC-1)" "AR;Mu" "212750" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01698" "GDHS" "ataxia, cerebellar, and hypogonadotropic hypogonadism" "AR" "212840" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01699" "IBGC1" "calcification, basal ganglia, idiopathic, type 1 (IBGC-1, Fahr\'s syndrome)" "AD" "213600" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01700" "CTX" "xanthomatosis, cerebrotendinous" "AR" "213700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01701" "CFSMR" "Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome" "AR" "213980" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01702" "PBD1A" "peroxisome biogenesis disorder, type 1A (PBD1A, Zellweger syndrome)" "AR" "214100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-09 15:56:44" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CYP4V2" "01680" ## Individuals ## Do not remove or alter this header ## ## Count = 680 "{{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}}" "00000041" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000101" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00001816" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00001817" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00001818" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00001822" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00081136" "" "" "" "1" "" "01769" "" "" "?" "" "" ">76y" "0" "no" "none" "unknown" "" "00081137" "" "" "" "1" "" "01769" "" "" "M" "?" "" "" "0" "no" "none" "white" "" "00081138" "" "" "" "1" "" "01769" "" "" "M" "?" "" "" "0" "no" "none" "white" "" "00081139" "" "" "" "1" "" "01769" "" "" "F" "" "" ">39y" "0" "" "" "Chinese" "" "00081141" "" "" "" "1" "" "01769" "" "" "F" "" "" ">38y" "0" "" "" "Chinese" "" "00081143" "" "" "" "1" "" "01769" "" "" "M" "" "" ">47y" "0" "" "" "Chinese" "" "00081145" "" "" "" "1" "" "01769" "" "" "M" "" "" ">35y" "0" "" "" "Chinese" "" "00081147" "" "" "" "1" "" "01769" "" "" "F" "" "" ">35y" "0" "" "" "white" "" "00081149" "" "" "" "1" "" "01769" "" "" "M" "" "" "" "0" "no" "none" "white" "" "00081150" "" "" "" "1" "" "01769" "" "" "F" "" "" ">33y" "0" "no" "none" "" "" "00081151" "" "" "" "1" "" "01769" "" "" "M" "" "" "" "0" "no" "none" "Korean" "" "00081153" "" "" "" "1" "" "01769" "" "" "M" "" "" "" "0" "no" "none" "Palestinian Arabic" "" "00081154" "" "" "" "1" "" "01769" "" "" "M" "" "" ">47y" "0" "no" "none" "Chinese" "" "00081156" "" "" "" "1" "" "01769" "" "" "?" "" "" "" "0" "no" "none" "white" "" "00081157" "" "" "" "1" "" "01769" "" "" "" "" "" ">64y" "0" "no" "none" "white" "" "00081158" "" "" "" "1" "" "01769" "" "" "?" "" "" "" "0" "no" "none" "white" "" "00081160" "" "" "" "1" "" "01769" "" "" "" "" "" "" "0" "no" "none" "" "" "00081161" "" "" "" "1" "" "01769" "" "" "" "" "" "" "0" "no" "none" "" "" "00081163" "" "" "" "1" "" "01769" "" "" "F" "" "" "" "0" "no" "none" "white" "" "00081164" "" "" "" "1" "" "01769" "" "" "" "" "" "" "0" "no" "none" "white" "" "00081165" "" "" "" "1" "" "01769" "" "" "F" "" "" "" "0" "no" "none" "white" "" "00081166" "" "" "" "1" "" "01769" "" "" "M" "" "" ">14y" "0" "no" "none" "Chinese" "" "00081167" "" "" "" "1" "" "01769" "" "" "" "" "" ">41y" "0" "no" "none" "white" "" "00081168" "" "" "" "1" "" "01769" "" "" "" "" "" ">33y" "0" "no" "none" "white" "" "00081169" "" "" "" "1" "" "01769" "" "" "" "" "" ">34y" "0" "no" "none" "white" "" "00081170" "" "" "" "1" "" "01769" "" "" "" "" "" "" "0" "no" "none" "white" "" "00081171" "" "" "" "1" "" "01769" "" "" "M" "" "" ">30y" "0" "no" "none" "Chinese" "" "00081173" "" "" "" "1" "" "01769" "" "" "F" "" "" "" "0" "no" "none" "white" "" "00081175" "" "" "" "1" "" "01769" "" "" "" "" "" "" "0" "no" "none" "white" "" "00081176" "" "" "" "1" "" "01769" "" "" "" "" "" "" "0" "no" "none" "white" "" "00081177" "" "" "" "1" "" "01769" "" "" "" "" "" "" "0" "no" "none" "white" "" "00081178" "" "" "" "1" "" "01769" "" "" "F" "" "" ">56y" "0" "no" "none" "Korean" "" "00081179" "" "" "" "1" "" "01769" "" "" "F" "" "" ">47y" "0" "no" "none" "Chinese" "" "00081180" "" "" "" "1" "" "01769" "" "" "" "" "" "" "0" "no" "none" "Chinese" "" "00081181" "" "" "" "1" "" "01769" "" "" "F" "" "" ">35y" "0" "no" "none" "Chinese" "" "00081182" "" "" "" "1" "" "01769" "" "" "M" "" "" ">43y" "0" "no" "none" "" "" "00081183" "" "" "" "1" "" "01769" "" "" "" "" "" "" "0" "no" "none" "Korean" "" "00081185" "" "" "" "1" "" "01769" "" "" "" "" "" "" "0" "no" "none" "Korean" "" "00081187" "" "" "" "1" "" "01769" "" "" "" "" "" ">61y" "0" "no" "none" "" "" "00081189" "" "" "" "1" "" "01769" "" "" "F" "" "" ">39y" "0" "no" "none" "Chinese" "" "00081191" "" "" "" "1" "" "01769" "" "" "F" "" "" ">51y" "0" "no" "none" "Chinese" "" "00081193" "" "" "" "1" "" "01769" "" "" "M" "" "" ">33y" "0" "no" "none" "Chinese" "" "00081195" "" "" "" "1" "" "01769" "" "" "F" "" "" ">43y" "0" "no" "none" "Chinese" "" "00081197" "" "" "" "1" "" "01769" "" "" "F" "" "" ">39y" "0" "no" "none" "Chinese" "" "00081199" "" "" "" "1" "" "01769" "" "" "M" "" "" ">48y" "0" "no" "none" "Chinese" "" "00081200" "" "" "" "1" "" "01769" "" "" "" "" "" "" "0" "no" "none" "" "" "00081201" "" "" "" "1" "" "01769" "" "" "" "" "" "" "0" "no" "none" "" "" "00081203" "" "" "" "1" "" "01769" "" "" "M" "" "" ">26y" "0" "no" "none" "Chinese" "" "00081205" "" "" "" "1" "" "01769" "" "" "M" "" "" ">40y" "0" "no" "none" "Chinese" "" "00081207" "" "" "" "1" "" "01769" "" "" "M" "" "" ">41y" "0" "no" "none" "Chinese" "" "00081208" "" "" "" "1" "" "01769" "" "" "" "" "" "" "0" "no" "none" "" "" "00081209" "" "" "" "1" "" "01769" "" "" "" "" "" "" "0" "no" "none" "" "" "00081210" "" "" "" "1" "" "01769" "" "" "F" "" "" ">48y" "0" "no" "none" "white" "" "00081211" "" "" "" "1" "" "01769" "" "" "" "" "" "" "0" "no" "none" "white" "" "00081214" "" "" "" "1" "" "01769" "" "" "F" "" "" "" "0" "no" "none" "white" "" "00081215" "" "" "" "1" "" "01769" "" "" "F" "" "" ">56y" "0" "no" "none" "white" "" "00081217" "" "" "" "1" "" "01769" "" "" "F" "" "" ">54y" "0" "no" "none" "white" "" "00081219" "" "" "" "1" "" "01769" "" "" "" "" "" "" "0" "no" "none" "white" "" "00089069" "" "" "" "3" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "3-generation family, 3 affecteds (3F), unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "Chinese" "" "00089070" "" "" "" "1" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "" "" "" "" "0" "" "" "Japanese" "" "00089071" "" "" "" "1" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "" "" "" "" "0" "" "" "Japanese" "" "00089072" "" "" "" "1" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "" "" "" "" "0" "" "" "Japanese" "" "00089073" "" "" "" "1" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "2-generation family, 1 affected (F), unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "Japanese" "" "00089074" "" "" "" "1" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "" "" "" "" "0" "" "" "Japanese" "" "00089075" "" "" "" "1" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "" "" "" "" "0" "" "" "Japanese" "" "00089076" "" "" "" "1" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "" "" "" "" "0" "" "" "Chinese" "" "00089077" "" "" "" "1" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "" "" "" "" "0" "" "" "Chinese" "" "00089078" "" "" "" "2" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "" "" "" "0" "" "" "European" "" "00089079" "" "" "" "2" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "European" "" "00089080" "" "" "" "1" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "" "" "" "" "0" "" "" "Chinese" "" "00089081" "" "" "" "1" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "" "" "" "" "0" "" "" "Chinese" "" "00089082" "" "" "" "1" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "" "" "" "" "0" "" "" "European" "" "00089083" "" "" "" "1" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "" "" "" "" "0" "" "" "Chinese" "" "00089084" "" "" "" "1" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "" "" "" "" "0" "" "" "Chinese" "" "00089085" "" "" "" "1" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "" "" "" "" "0" "" "" "Japanese" "" "00089086" "" "" "" "1" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "" "" "" "" "0" "" "" "Chinese" "" "00089087" "" "" "" "1" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "" "" "" "" "0" "" "" "Japanese" "" "00089088" "" "" "" "1" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "" "" "" "" "0" "" "" "European" "" "00089089" "" "" "" "1" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "" "" "" "" "0" "" "" "Chinese" "" "00089090" "" "" "" "1" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "" "" "" "" "0" "" "" "Chinese" "" "00089091" "" "" "" "1" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "" "" "" "" "0" "" "" "European" "" "00089092" "" "" "" "1" "" "00006" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "" "" "" "" "0" "" "" "Chinese" "" "00155459" "" "" "" "1" "" "01243" "{PMID:Sharon 2019:31456290}" "family" "F" "no" "Israel" "" "0" "" "" "Jewish-Yemenite" "MOL0815" "00232608" "" "" "" "490" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1197 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232609" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232610" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232611" "" "" "" "10" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232612" "" "" "" "590" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232613" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232614" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232615" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232616" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232617" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232618" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233679" "" "" "" "89" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1197 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233680" "" "" "" "201" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00293605" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293606" "" "" "" "33" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293607" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293608" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293609" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309129" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309130" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "family" "" "" "Israel" "" "0" "" "" "" "" "00328019" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G001277" "00331268" "" "" "" "1" "" "00000" "{PMID:Maeda 2018:29785639}" "patient, no family history" "M" "" "Japan" "" "0" "" "" "" "Pat22" "00331269" "" "" "" "1" "" "00000" "{PMID:Maeda 2018:29785639}" "patient, no family history" "M" "" "Japan" "" "0" "" "" "" "Pat23" "00333357" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat6" "00334458" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "patient" "" "" "China" "" "0" "" "" "" "RP-131" "00334459" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "patient" "" "" "China" "" "0" "" "" "" "RP-064" "00334460" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "patient" "" "" "China" "" "0" "" "" "" "RP-074" "00335383" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP005" "00335388" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP042" "00335389" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP043" "00335392" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP067" "00335395" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP091" "00335409" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP093" "00362229" "" "" "" "1" "" "04043" "Fadaie 2021, submitted" "" "" "" "Netherlands" "" "0" "" "" "" "?" "00362915" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "ARRP201" "00363867" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "family" "" "" "Israel" "" "0" "" "" "" "" "00363868" "" "" "" "1" "" "00004" "{PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}" "family" "" "" "Israel" "" "0" "" "" "Jewish-Yemenite" "MOL0816" "00373492" "" "" "" "2" "" "00000" "{PMID:Liu 2015:25611614}" "family, 2 affected" "F" "" "China" "" "0" "" "" "" "RH6-PatII1" "00373493" "" "" "00373492" "1" "" "00000" "{PMID:Liu 2015:25611614}" "" "F" "" "China" "" "0" "" "" "" "RH6-PatII2" "00373498" "" "" "" "1" "" "00000" "{PMID:Liu 2015:25611614}" "" "M" "" "China" "" "0" "" "" "" "RH12-PatII3" "00373502" "" "" "" "3" "" "00000" "{PMID:Liu 2015:25611614}" "family, 3 affected" "F" "" "China" "" "0" "" "" "" "RH18-PatII2" "00373503" "" "" "00373502" "1" "" "00000" "{PMID:Liu 2015:25611614}" "" "F" "" "China" "" "0" "" "" "" "RH18-PatII4" "00373504" "" "" "00373502" "1" "" "00000" "{PMID:Liu 2015:25611614}" "" "M" "" "China" "" "0" "" "" "" "RH18-PatII6" "00373910" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-140-381" "00374902" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "F" "" "China" "" "0" "" "" "" "W155-1" "00374904" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "F" "" "China" "" "0" "" "" "" "W172-1" "00374927" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "" "China" "" "0" "" "" "" "W76-1" "00374933" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "yes" "China" "" "0" "" "" "" "W69-1" "00374939" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "" "China" "" "0" "" "" "" "W50-1" "00374966" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "" "China" "" "0" "" "" "" "W9-1" "00374967" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "yes" "China" "" "0" "" "" "" "W15-1" "00374968" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "" "China" "" "0" "" "" "" "W20-1" "00375410" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#001" "00375417" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#009" "00375435" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#030" "00379672" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0061" "00379782" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GS_0144" "00379828" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016101718" "00379829" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "F" "?" "China" "" "0" "" "" "Han Chinese" "2016101722" "00379830" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016112816" "00379831" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016120514" "00379832" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016121218" "00379833" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016121905" "00379834" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016121907" "00381023" "" "" "" "1" "" "00000" "{PMID:Chen-2013:23462753}" "" "" "" "China" "" "0" "" "" "Chinese" "" "00381064" "" "" "" "3" "" "00000" "{PMID:Fu-2013:23661369}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00381065" "" "" "" "2" "" "00000" "{PMID:Fu-2013:23661369}" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00381079" "" "" "" "3" "" "00000" "{PMID:Fu-2013:23661369}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00381723" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "no" "" "" "0" "" "" "" "" "00381724" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "no" "" "" "0" "" "" "" "" "00381725" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "no" "" "" "0" "" "" "" "" "00381729" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "no" "" "" "0" "" "" "" "" "00383814" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RS0170400734" "00384265" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13287" "00384269" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13308" "00384356" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13911" "00384358" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13939" "00384381" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14105" "00384446" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14565" "00384472" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14747" "00385391" "" "" "" "1" "" "00000" "{PMID:Chen 2020:31872526}" "" "M" "" "Taiwan" "" "0" "" "" "" "F1-I-2" "00385392" "" "" "" "1" "" "00000" "{PMID:Chen 2020:31872526}" "" "F" "" "Taiwan" "" "0" "" "" "" "F2-II-1" "00385394" "" "" "" "1" "" "00000" "{PMID:Chen 2020:31872526}" "" "F" "" "Taiwan" "" "0" "" "" "" "F4-I-1" "00385408" "" "" "" "1" "" "00000" "{PMID:Chen 2020:31872526}" "" "F" "" "Taiwan" "" "0" "" "" "" "F19-II-2" "00385409" "" "" "" "1" "" "00000" "{PMID:Chen 2020:31872526}" "" "F" "" "Taiwan" "" "0" "" "" "" "F20-II-2" "00385703" "" "" "" "1" "" "00000" "{PMID:Dan 2020:31960602}" "" "M" "?" "China" "" "0" "" "" "" "13" "00385711" "" "" "" "1" "" "00000" "{PMID:Dan 2020:31960602}" "" "F" "?" "China" "" "0" "" "" "" "55" "00385716" "" "" "" "1" "" "00000" "{PMID:Dan 2020:31960602}" "" "F" "?" "China" "" "0" "" "" "" "74" "00385717" "" "" "" "1" "" "00000" "{PMID:Dan 2020:31960602}" "" "M" "?" "China" "" "0" "" "" "" "93" "00385726" "" "" "" "1" "" "00000" "{PMID:Dan 2020:31960602}" "" "M" "no" "China" "" "0" "" "" "" "132" "00387389" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32100970}" "" "F" "" "China" "" "0" "" "" "" "9" "00387620" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "1" "00388512" "" "" "" "1" "" "00000" "{PMID:Ellingsford 2018:29074561}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15010871" "00389278" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 201, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "562" "00389279" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 201, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "563" "00389381" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 237, unclassified / mixed, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "665" "00389384" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 238, unclassified / mixed, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "668" "00390250" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001277" "00390981" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00392589" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "45" "00392653" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "139" "00393447" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393449" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393454" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393456" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393457" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393458" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393473" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393503" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393504" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393508" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393510" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393513" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393515" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393522" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393523" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393525" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393529" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393530" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393531" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393533" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393535" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393537" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393538" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393546" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393547" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393551" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393552" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393553" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393555" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393556" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393559" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393561" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393565" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393572" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393575" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393577" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393586" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393589" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393591" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393604" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393610" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393615" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393616" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393633" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393638" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393656" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393658" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393666" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393670" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393687" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393688" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393701" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393707" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393713" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393723" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393732" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393736" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393767" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393768" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393773" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393791" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393795" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393799" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393800" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393801" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393806" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393808" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393809" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393816" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393818" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393819" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393820" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393827" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393828" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393829" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393832" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393834" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393843" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393846" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393847" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393848" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393850" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393851" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393852" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" 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"{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393883" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "yes" "" "" "0" "" "" "" "" "00393887" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393893" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393903" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393904" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393916" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393917" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393920" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00394798" "" "" "" "1" "" "00000" "{PMID:Kim 2021:33946315}" "" "?" 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"" "Taiwan" "" "0" "" "" "" "F029" "00409303" "" "" "" "1" "" "00000" "{PMID:Lin 2005:15937078}" "" "M" "" "" "" "0" "" "" "Japanese" "252" "00409304" "" "" "" "1" "" "00000" "{PMID:Lin 2005:15937078}" "" "F" "" "" "" "0" "" "" "Japanese" "259" "00409305" "" "" "" "1" "" "00000" "{PMID:Lin 2005:15937078}" "" "F" "" "" "" "0" "" "" "Japanese" "260" "00409306" "" "" "" "1" "" "00000" "{PMID:Lin 2005:15937078}" "" "F" "" "" "" "0" "" "" "Japanese" "265" "00409307" "" "" "" "1" "" "00000" "{PMID:Lin 2005:15937078}" "" "M" "" "" "" "0" "" "" "Japanese" "272" "00409308" "" "" "" "1" "" "00000" "{PMID:Lin 2005:15937078}" "" "M" "" "" "" "0" "" "" "Japanese" "303" "00409309" "" "" "" "1" "" "00000" "{PMID:Lin 2005:15937078}" "" "F" "" "" "" "0" "" "" "Japanese" "312" "00409310" "" "" "" "1" "" "00000" "{PMID:Lin 2005:15937078}" "" "F" "" "" "" "0" "" "" "Japanese" "270" "00409311" "" "" "" "1" "" "00000" "{PMID:Lin 2005:15937078}" "" "F" "" "" "" "0" "" "" "Chinese" "288-001" "00409312" "" "" "" "1" "" "00000" "{PMID:Lin 2005:15937078}" "" "F" "" "" "" "0" "" "" "Middle Eastern" "288-002" "00409313" "" "" "" "1" "" "00000" "{PMID:Lin 2005:15937078}" "" "M" "" "" "" "0" "" "" "Middle Eastern" "288-003" "00409316" "" "" "" "1" "" "00000" "{PMID:Shan 2005:16179904}" "" "F" "" "China" "" "0" "" "" "" "27001-IV:3" "00409317" "" "" "" "1" "" "00000" "{PMID:Shan 2005:16179904}" "" "F" "" "China" "" "0" "" "" "" "27002-II:2" "00409318" "" "" "" "1" "" "00000" "{PMID:Shan 2005:16179904}" "" "F" "" "China" "" "0" "" "" "" "27003-II:1" "00409319" "" "" "" "1" "" "00000" "{PMID:Shan 2005:16179904}" "" "F" "" "China" "" "0" "" "" "" "27004" "00409320" "" "" "" "1" "" "00000" "{PMID:Shan 2005:16179904}" "" "M" "" "China" "" "0" "" "" "" "27005-I:1" "00409321" "" "" "" "1" "" "00000" "{PMID:Shan 2005:16179904}" "" "F" "" "China" "" "0" "" "" "" "27006" "00409322" "" "" "" "1" "" "00000" "{PMID:Shan 2005:16179904}" "" "F" "" "China" "" "0" "" "" "" "27007-II:1" "00409323" "" "" "" "1" "" "00000" "{PMID:Shan 2005:16179904}" "" "F" "" "China" "" "0" "" "" "" "27008-II:1" "00409324" "" "" "" "1" "" "00000" "{PMID:Shan 2005:16179904}" "" "?" "" "China" "" "0" "" "" "" "28029" "00409325" "" "" "" "1" "" "00000" "{PMID:Shan 2005:16179904}" "" "?" "" "China" "" "0" "" "" "" "28038" "00409326" "" "" "" "1" "" "00000" "{PMID:Shan 2005:16179904}" "" "?" "" "China" "" "0" "" "" "" "28041" "00409327" "" "" "" "1" "" "00000" "{PMID:Shan 2005:16179904}" "" "?" "" "China" "" "0" "" "" "" "28042" "00409328" "" "" "" "1" "" "00000" "{PMID:Shan 2005:16179904}" "" "?" "" "China" "" "0" "" "" "" "28043" "00409329" "" "" "" "1" "" "00000" "{PMID:Shan 2005:16179904}" "" "?" "" "China" "" "0" "" "" "" "28044" "00409330" "" "" "" "1" "" "00000" "{PMID:Shan 2005:16179904}" "" "?" "" "China" "" "0" "" "" "" "28045" "00409331" "" "" "" "1" "" "00000" "{PMID:Shan 2005:16179904}" "" "?" "" "China" "" "0" "" "" "" "28049" "00409332" "" "" "" "1" "" "00000" "{PMID:Shan 2005:16179904}" "" "?" "" "China" "" "0" "" "" "" "28051" "00409333" "" "" "" "1" "" "00000" "{PMID:Shan 2005:16179904}" "" "M" "" "China" "" "0" "" "" "" "27001-IV:5" "00409334" "" "" "" "1" "" "00000" "{PMID:Shan 2005:16179904}" "" "F" "" "China" "" "0" "" "" "" "27002-II:3" "00409335" "" "" "" "1" "" "00000" "{PMID:Shan 2005:16179904}" "" "F" "" "China" "" "0" "" "" "" "27003-II:3" "00409336" "" "" "" "1" "" "00000" "{PMID:Shan 2005:16179904}" "" "F" "" "China" "" "0" "" "" "" "27005-II:1" "00409337" "" "" "" "1" "" "00000" "{PMID:Shan 2005:16179904}" "" "M" "" "China" "" "0" "" "" "" "27007-II:2" "00409338" "" "" "" "1" "" "00000" "{PMID:Shan 2005:16179904}" "" "F" "" "China" "" "0" "" "" "" "27008-II:2" "00409341" "" "" "" "1" "" "00000" "{PMID:Xiao 2011:21565171}" "" "M" "" "China" "" "0" "" "" "" "BCD01" "00409342" "" "" "" "1" "" "00000" "{PMID:Xiao 2011:21565171}" "" "F" "" "China" "" "0" "" "" "" "BCD02" "00409343" "" "" "" "1" "" "00000" "{PMID:Xiao 2011:21565171}" "" "M" "" "China" "" "0" "" "" "" "BCD03" "00409344" "" "" "" "1" "" "00000" "{PMID:Xiao 2011:21565171}" "" "M" "" "China" "" "0" "" "" "" "BCD04" "00409345" "" "" "" "1" "" "00000" "{PMID:Xiao 2011:21565171}" "" "F" "" "China" "" "0" "" "" "" "BCD05" "00409346" "" "" "" "1" "" "00000" "{PMID:Xiao 2011:21565171}" "" "M" "" "China" "" "0" "" "" "" "BCD06" "00409347" "" "" "" "1" "" "00000" "{PMID:Xiao 2011:21565171}" "" "F" "" "China" "" "0" "" "" "" "BCD07" "00409348" "" "" "" "1" "" "00000" "{PMID:Xiao 2011:21565171}" "" "M" "" "China" "" "0" "" "" "" "BCD08" "00409349" "" "" "" "1" "" "00000" "{PMID:Xiao 2011:21565171}" "" "M" "" "China" "" "0" "" "" "" "BCD09" "00409350" "" "" "" "1" "" "00000" "{PMID:Xiao 2011:21565171}" "" "F" "" "China" "" "0" "" "" "" "BCD10" "00409351" "" "" "" "1" "" "00000" "{PMID:Xiao 2011:21565171}" "" "F" "" "China" "" "0" "" "" "" "BCD11" "00409352" "" "" "" "1" "" "00000" "{PMID:Xiao 2011:21565171}" "" "M" "" "China" "" "0" "" "" "" "BCD12" "00409353" "" "" "" "1" "" "00000" "{PMID:Xiao 2011:21565171}" "" "M" "" "China" "" "0" "" "" "" "BCD13" "00409354" "" "" "" "1" "" "00000" "{PMID:Xiao 2011:21565171}" "" "F" "" "China" "" "0" "" "" "" "BCD14" "00409355" "" "" "" "1" "" "00000" "{PMID:Xiao 2011:21565171}" "" "F" "" "China" "" "0" "" "" "" "BCD15" "00409356" "" "" "" "1" "" "00000" "{PMID:Xiao 2011:21565171}" "" "F" "" "China" "" "0" "" "" "" "BCD16" "00409357" "" "" "" "1" "" "00000" "{PMID:Xiao 2011:21565171}" "" "F" "" "China" "" "0" "" "" "" "BCD17" "00409358" "" "" "" "1" "" "00000" "{PMID:Xiao 2011:21565171}" "" "F" "" "China" "" "0" "" "" "" "BCD18" "00409359" "" "" "" "1" "" "00000" "{PMID:Xiao 2011:21565171}" "" "F" "" "China" "" "0" "" "" "" "BCD19" "00409360" "" "" "" "1" "" "00000" "{PMID:Xiao 2011:21565171}" "" "F" "" "China" "" "0" "" "" "" "BCD20" "00409361" "" "" "" "1" "" "00000" "{PMID:Xiao 2011:21565171}" "" "F" "" "China" "" "0" "" "" "" "BCD21" "00409367" "" "" "" "1" "" "00000" "{PMID:Song 2012:23242590}" "" "M" "" "China" "" "0" "" "" "" "?" "00409368" "" "" "" "1" "" "00000" "{PMID:Wang 2012:22693542}" "" "F" "" "China" "" "0" "" "" "" "III8" "00409369" "" "" "" "1" "" "00000" "{PMID:Wang 2012:22693542}" "" "F" "" "China" "" "0" "" "" "" "III2" "00409370" "" "" "" "1" "" "00000" "{PMID:Wang 2012:22693542}" "" "F" "" "China" "" "0" "" "" "" "III4" "00409371" "" "" "" "1" "" "00000" "{PMID:Wang 2012:22693542}" "" "F" "" "China" "" "0" "" "" "" "III6" "00409372" "" "" "" "1" "" "00000" "{PMID:Meng 2014:25593508}" "43" "F" "" "China" "" "0" "" "" "" "31" "00409373" "" "" "" "1" "" "00000" "{PMID:Meng 2014:25593508}" "61" "F" "" "China" "" "0" "" "" "" "33" "00409374" "" "" "" "1" "" "00000" "{PMID:Meng 2014:25593508}" "55" "M" "" "China" "" "0" "" "" "" "60" "00409375" "" "" "" "1" "" "00000" "{PMID:Meng 2014:25593508}" "44" "M" "" "China" "" "0" "" "" "" "86" "00409376" "" "" "" "1" "" "00000" "{PMID:Astuti 2014:25629076}" "Family A" "M" "" "Lebanon" "" "0" "" "" "" "A" "00409377" "" "" "" "1" "" "00000" "{PMID:Astuti 2014:25629076}" "Family B" "M" "" "" "" "0" "" "" "white" "B" "00409378" "" "" "" "1" "" "00000" "{PMID:Astuti 2014:25629076}" "Family C" "F" "" "" "" "0" "" "" "white" "C" "00409379" "" "" "" "1" "" "00000" "{PMID:Astuti 2014:25629076}" "Family D" "F" "" "" "" "0" "" "" "white" "D" "00409380" "" "" "" "1" "" "00000" "{PMID:Astuti 2014:25629076}" "Family E" "F" "" "" "" "0" "" "" "white" "E" "00409381" "" "" "" "1" "" "00000" "{PMID:Astuti 2014:25629076}" "Family F" "F" "" "" "" "0" "" "" "white" "F" "00409382" "" "" "" "1" "" "00000" "{PMID:Astuti 2014:25629076}" "Family G" "F" "" "" "" "0" "" "" "white" "G" "00409383" "" "" "" "1" "" "00000" "{PMID:Astuti 2014:25629076}" "Family H" "F" "" "" "" "0" "" "" "white" "H" "00409384" "" "" "" "1" "" "00000" "{PMID:Astuti 2014:25629076}" "Family I" "F" "" "" "" "0" "" "" "white" "I" "00409385" "" "" "" "1" "" "00000" "{PMID:Astuti 2014:25629076}" "Family J" "M" "" "" "" "0" "" "" "white" "J" "00409386" "" "" "" "1" "" "00000" "{PMID:Tian 2015:26085992}" "family A" "F" "" "China" "" "0" "" "" "" "A_II:2" "00409387" "" "" "" "1" "" "00000" "{PMID:Tian 2015:26085992}" "family B" "F" "" "China" "" "0" "" "" "" "B_II:2" "00409388" "" "" "" "1" "" "00000" "{PMID:Tian 2015:26085992}" "family C" "F" "" "China" "" "0" "" "" "" "C_II:2" "00409389" "" "" "" "1" "" "00000" "{PMID:Tian 2015:26085992}" "family D" "F" "" "China" "" "0" "" "" "" "D_II:1" "00409390" "" "" "" "1" "" "00000" "{PMID:Tian 2015:26085992}" "family E" "M" "" "China" "" "0" "" "" "" "E_II:1" "00409391" "" "" "" "1" "" "00000" "{PMID:Park 2016:26865810}" "family A" "F" "" "Korea, South (Republic)" "" "0" "" "" "" "?" "00409393" "" "" "" "1" "" "00000" "{PMID:Yin 2016:26971461}" "" "M" "" "China" "" "0" "" "" "" "BCD001-III:4" "00409394" "" "" "" "1" "" "00000" "{PMID:Yin 2016:26971461}" "" "F" "" "China" "" "0" "" "" "" "BCD003-II:1" "00409395" "" "" "" "1" "" "00000" "{PMID:Yin 2016:26971461}" "" "F" "" "China" "" "0" "" "" "" "BCD006" "00409396" "" "" "" "1" "" "00000" "{PMID:Yin 2016:26971461}" "" "F" "" "China" "" "0" "" "" "" "BCD007" "00409397" "" "" "" "1" "" "00000" "{PMID:Yin 2016:26971461}" "" "F" "" "China" "" "0" "" "" "" "BCD008" "00409398" "" "" "" "1" "" "00000" "{PMID:Yin 2016:26971461}" "" "M" "" "China" "" "0" "" "" "" "BCD011-II:2" "00409399" "" "" "" "1" "" "00000" "{PMID:Yin 2016:26971461}" "" "M" "" "China" "" "0" "" "" "" "BCD012" "00409400" "" "" "" "1" "" "00000" "{PMID:Yin 2016:26971461}" "" "F" "" "China" "" "0" "" "" "" "BCD013" "00409401" "" "" "" "1" "" "00000" "{PMID:Yin 2016:26971461}" "" "M" "" "China" "" "0" "" "" "" "BCD014" "00409402" "" "" "" "1" "" "00000" 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"00409621" "01680" "00409622" "01680" "00409623" "01680" "00409624" "01680" "00409625" "01680" "00409626" "01680" "00409627" "01680" "00409628" "01680" "00409629" "01680" "00409630" "01680" "00409631" "01680" "00409632" "01680" "00409633" "01680" "00409634" "01680" "00409635" "01680" "00409636" "01680" "00409637" "01680" "00409638" "01680" "00409639" "01680" "00409640" "01680" "00409641" "01680" "00409642" "01680" "00409643" "01680" "00409644" "01680" "00409645" "01680" "00409646" "01680" "00409647" "01680" "00409648" "01680" "00409649" "01680" "00409650" "01680" "00409651" "01680" "00409652" "01680" "00409653" "01680" "00409654" "01680" "00409655" "01680" "00409656" "01680" "00409657" "01680" "00409658" "01680" "00409659" "01680" "00409660" "01680" "00409661" "01680" "00409662" "01680" "00409663" "01680" "00409664" "01680" "00409665" "01680" "00409666" "01680" "00409667" "01680" "00409668" "01680" "00409669" "01680" "00409670" "01680" "00409671" "01680" "00409672" "01680" "00409673" "01680" "00409674" "01680" "00409675" "01680" "00409676" "01680" "00409677" "01680" "00409678" "01680" "00409679" "01680" "00409680" "01680" "00409681" "01680" "00409682" "01680" "00409683" "01680" "00409684" "01680" "00409685" "01680" "00409686" "01680" "00409687" "01680" "00409688" "01680" "00409689" "01680" "00409690" "01680" "00409691" "01680" "00411617" "04214" "00414377" "00198" "00420401" "04214" "00420411" "04214" "00420425" "04214" "00420442" "04214" "00420455" "04214" "00420469" "04214" "00420486" "04214" "00420507" "04214" "00420530" "04214" "00420541" "04214" "00420587" "04214" "00420592" "04214" "00447199" "00198" "00447386" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00112, 00198, 01680, 01681, 01682, 01683, 01684, 01685, 01686, 01687, 01688, 01689, 01690, 01691, 01692, 01693, 01694, 01695, 01696, 01697, 01698, 01699, 01700, 01701, 01702, 04214 ## Count = 655 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000060712" "01680" "00081136" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060713" "01680" "00081137" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060714" "01680" "00081138" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060715" "01680" "00081139" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060717" "01680" "00081141" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060719" "01680" "00081143" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060721" "01680" "00081145" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060723" "01680" "00081147" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060725" "01680" "00081149" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060726" "01680" "00081150" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060727" "01680" "00081151" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060729" "01680" "00081153" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060730" "01680" "00081154" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060732" "01680" "00081156" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060733" "01680" "00081157" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060734" "01680" "00081158" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060736" "01680" "00081160" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060737" "01680" "00081161" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060739" "01680" "00081163" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060740" "01680" "00081165" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060741" "01680" "00081166" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060742" "01680" "00081167" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060743" "01680" "00081168" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060744" "01680" "00081169" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060745" "01680" "00081170" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060746" "01680" "00081171" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060748" "01680" "00081173" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060750" "01680" "00081175" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060751" "01680" "00081176" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060752" "01680" "00081177" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060753" "01680" "00081178" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060754" "01680" "00081179" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060755" "01680" "00081180" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060756" "01680" "00081181" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060757" "01680" "00081182" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060758" "01680" "00081183" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060760" "01680" "00081185" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060762" "01680" "00081187" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060764" "01680" "00081189" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060766" "01680" "00081191" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060768" "01680" "00081193" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060770" "01680" "00081195" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060772" "01680" "00081197" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060774" "01680" "00081199" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060775" "01680" "00081200" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060776" "01680" "00081201" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060778" "01680" "00081203" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060780" "01680" "00081205" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060782" "01680" "00081207" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060783" "01680" "00081208" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060784" "01680" "00081209" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060785" "01680" "00081210" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060786" "01680" "00081211" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060787" "01680" "00081214" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060788" "01680" "00081215" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060790" "01680" "00081217" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000060792" "01680" "00081219" "01769" "Familial, autosomal recessive" "" "affected with Bietti corneoretina dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000068461" "01680" "00089069" "00006" "Familial, autosomal recessive" "" "lipid inclusions in lymphocytes" "" "" "" "" "" "" "" "" "" "" "" "0000068462" "01680" "00089070" "00006" "Familial, autosomal recessive" "" "lipid inclusions in lymphocytes" "" "" "" "" "" "" "" "" "" "" "" "0000068463" "01680" "00089071" "00006" "Familial, autosomal recessive" "" "lipid inclusions in lymphocytes" "" "" "" "" "" "" "" "" "" "" "" "0000068464" "01680" "00089072" "00006" "Familial, autosomal recessive" "" "lipid inclusions in lymphocytes" "" "" "" "" "" "" "" "" "" "" "" "0000068465" "01680" "00089073" "00006" "Familial, autosomal recessive" "" "lipid inclusions in lymphocytes" "" "" "" "" "" "" "" "" "" "" "" "0000068466" "01680" "00089074" "00006" "Familial, autosomal recessive" "" "lipid inclusions in lymphocytes" "" "" "" "" "" "" "" "" "" "" "" "0000068467" "01680" "00089075" "00006" "Familial, autosomal recessive" "" "lipid inclusions in lymphocytes" "" "" "" "" "" "" "" "" "" "" "" "0000068468" "01680" "00089076" "00006" "Familial, autosomal recessive" "" "lipid inclusions in lymphocytes" "" "" "" "" "" "" "" "" "" "" "" "0000068469" "01680" "00089077" "00006" "Familial, autosomal recessive" "" "lipid inclusions in lymphocytes" "" "" "" "" "" "" "" "" "" "" "" "0000068470" "01680" "00089078" "00006" "Familial, autosomal recessive" "" "lipid inclusions in lymphocytes" "" "" "" "" "" "" "" "" "" "" "" "0000068471" "01680" "00089079" "00006" "Familial, autosomal recessive" "" "lipid inclusions in lymphocytes" "" "" "" "" "" "" "" "" "" "" "" "0000068472" "01680" "00089080" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068473" "01680" "00089081" "00006" "Familial, autosomal recessive" "" "lipid inclusions in lymphocytes" "" "" "" "" "" "" "" "" "" "" "" "0000068474" "01680" "00089082" "00006" "Familial, autosomal recessive" "" "lipid inclusions in lymphocytes" "" "" "" "" "" "" "" "" "" "" "" "0000068475" "01680" "00089083" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068476" "01680" "00089084" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068477" "01680" "00089085" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068478" "01680" "00089086" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068479" "01680" "00089087" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068480" "01680" "00089088" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068481" "01680" "00089089" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068482" "01680" "00089090" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068483" "01680" "00089091" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000127959" "04214" "00155459" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234449" "04214" "00309129" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Bietti crystaline chorioretinal dystrophy" "" "0000234450" "04214" "00309130" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Bietti crystaline chorioretinal dystrophy, retinitis pigmentosa" "" "0000246246" "04214" "00328019" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000249462" "04214" "00331268" "00000" "Familial, autosomal recessive" "40y" "" "" "" "" "" "" "" "" "" "" "Bietti crystalline retinopathy" "" "0000249463" "04214" "00331269" "00000" "Familial, autosomal recessive" "53y" "" "" "" "" "" "" "" "" "" "" "Bietti crystalline retinopathy" "" "0000251544" "04214" "00333357" "00000" "Familial, X-linked recessive" "39y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252547" "04214" "00334458" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bietti crystalline corneoretinal dystrophy" "" "0000252548" "04214" "00334459" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bietti crystalline corneoretinal dystrophy" "" "0000252549" "04214" "00334460" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bietti crystalline corneoretinal dystrophy" "" "0000253329" "04214" "00335383" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253334" "04214" "00335388" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bietti crystalline corneoretinal dystrophy" "" "0000253335" "04214" "00335389" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bietti crystalline corneoretinal dystrophy" "" "0000253338" "04214" "00335392" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bietti crystalline corneoretinal dystrophy" "" "0000253341" "04214" "00335395" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bietti crystalline corneoretinal dystrophy" "" "0000253355" "04214" "00335409" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bietti crystalline corneoretinal dystrophy" "" "0000257643" "04214" "00362229" "04043" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000258281" "04214" "00362915" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000259206" "04214" "00363867" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000259207" "04214" "00363868" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268768" "04214" "00373492" "00000" "Familial, autosomal recessive" "24y" "see paper; ..." "15y" "" "" "" "" "" "" "" "" "Bietti crystalline dystrophy" "" "0000268769" "04214" "00373493" "00000" "Familial, autosomal recessive" "21y" "see paper; ..." "18y" "" "" "" "" "" "" "" "" "Bietti crystalline dystrophy" "" "0000268774" "04214" "00373498" "00000" "Familial, autosomal recessive" "34y" "see paper; ..." "17y" "" "" "" "" "" "" "" "" "Bietti crystalline dystrophy" "" "0000268778" "04214" "00373502" "00000" "Familial, autosomal recessive" "39y" "see paper; ..." "27y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268779" "04214" "00373503" "00000" "Familial, autosomal recessive" "37y" "see paper; ..." "25y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268780" "04214" "00373504" "00000" "Familial, autosomal recessive" "30y" "see paper; ..." "25y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269119" "04214" "00373910" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270112" "04214" "00374902" "00000" "Isolated (sporadic)" "39y" "best corrected visual acuity 0.1/0.06" "30y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270114" "04214" "00374904" "00000" "Familial, autosomal recessive" "38y" "best corrected visual acuity 0.1/0.4" "27y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270137" "04214" "00374927" "00000" "Isolated (sporadic)" "47y" "best corrected visual acuity 0.1/0.3" "20y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270143" "04214" "00374933" "00000" "Isolated (sporadic)" "35y" "best corrected visual acuity hand movement/hand movement" "20y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270149" "04214" "00374939" "00000" "Familial, autosomal recessive" "30y" "best corrected visual acuity light perception/light perception" "25y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270176" "04214" "00374966" "00000" "Isolated (sporadic)" "40y" "best corrected visual acuity 0.04/0.04" "30y" "" "" "" "" "" "" "" "" "Bietti crystalline dystrophy" "" "0000270177" "04214" "00374967" "00000" "Familial, autosomal recessive" "41y" "best corrected visual acuity hand movement/hand movement" "21y" "" "" "" "" "" "" "" "" "Bietti crystalline dystrophy" "" "0000270178" "04214" "00374968" "00000" "Familial, autosomal recessive" "48y" "best corrected visual acuity 0.07/hand movement" "25y" "" "" "" "" "" "" "" "" "Bietti crystalline dystrophy" "" "0000270624" "04214" "00375410" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270631" "04214" "00375417" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270649" "04214" "00375435" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000273516" "01680" "00379672" "03508" "Familial, autosomal recessive" "" "HP:0001141,\tHP:0000662,\tHP:0000613,\tHP:0001133,\tHP:0000007,\tHP:0000510" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "0000273637" "01680" "00379782" "03508" "Familial, autosomal recessive" "" "HP:0032037,\tHP:0001133,\tHP:0000510" "" "" "" "" "" "" "" "" "" "" "" "0000273682" "04214" "00379828" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273683" "04214" "00379829" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273684" "04214" "00379830" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273685" "04214" "00379831" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273686" "04214" "00379832" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273687" "04214" "00379833" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273688" "04214" "00379834" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000274874" "04214" "00381023" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (RP)" "" "0000274915" "04214" "00381064" "00000" "Familial, autosomal recessive" "52y" "Dense cataracts; left eye trauma history" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (RP)" "" "0000274916" "04214" "00381065" "00000" "Familial, autosomal recessive" "25y" "Nystagmus" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (RP)" "" "0000274930" "04214" "00381079" "00000" "Familial, autosomal recessive" "40y" "Emmetropia" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (RP)" "" "0000275565" "04214" "00381723" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000275566" "04214" "00381724" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000275567" "04214" "00381725" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000275571" "04214" "00381729" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277599" "04214" "00383814" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000278050" "04214" "00384265" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa?" "" "0000278054" "04214" "00384269" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bietti crystalline corneoretinal dystretinopathy of prematurityhy" "" "0000278141" "04214" "00384356" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinoschisis" "" "0000278143" "04214" "00384358" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bietti crystalline corneoretinal dystretinopathy of prematurityhy" "" "0000278166" "04214" "00384381" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000278231" "04214" "00384446" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000278257" "04214" "00384472" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bietti crystalline corneoretinal dystretinopathy of prematurityhy" "" "0000278359" "04214" "00000101" "00000" "Familial, autosomal dominant" "64y" "diffuse retinal, retinal pigment epithelium, and choroidal atrophy without evidence for choroidal neovascularization" "55y" "" "" "" "" "" "" "" "" "Sorsby fundus dystrophy" "" "0000279187" "04214" "00385391" "00000" "Isolated (sporadic)" "64y" "64" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279188" "04214" "00385392" "00000" "Isolated (sporadic)" "48y" "48" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279190" "04214" "00385394" "00000" "Isolated (sporadic)" "59y" "59" "" "" "" "" "" "" "" "" "Bietti\'s crystalline dystrophy" "Bietti\'s crystalline dystrophy" "" "0000279204" "04214" "00385408" "00000" "Familial, autosomal recessive" "55y" "55" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279205" "04214" "00385409" "00000" "Familial, autosomal recessive" "52y" "52" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279516" "04214" "00385703" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Bietti crystalline dystrophy" "Bietti crystalline dystrophy" "" "0000279524" "04214" "00385711" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Bietti crystalline dystrophy" "Bietti crystalline dystrophy" "" "0000279529" "04214" "00385716" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Bietti crystalline dystrophy" "Bietti crystalline dystrophy" "" "0000279530" "04214" "00385717" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Bietti crystalline dystrophy" "Bietti crystalline dystrophy" "" "0000279539" "04214" "00385726" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bietti crystalline dystrophy" "Bietti crystalline dystrophy" "" "0000280952" "04214" "00387389" "00000" "Familial, autosomal dominant" "33y" "no lens opacity, peripheral choroidal atrophy, negative family history, BCVA OD/OS: 0.6/0.5, hypotension" "12y" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000281183" "04214" "00387620" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bietti crystalline dystrophy" "Adult retinal dystrophy" "" "0000282064" "04214" "00388512" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000282819" "04214" "00389278" "00000" "Familial, autosomal recessive" "61y" "age at genetic diagnosis mentioned" "" "54y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000282820" "04214" "00389279" "00000" "Familial, autosomal recessive" "51y" "age at genetic diagnosis mentioned" "" "43y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000282922" "04214" "00389381" "00000" "Familial, autosomal recessive" "45y" "age at genetic diagnosis mentioned" "" "44y" "" "" "" "" "" "" "unclassified / mixed" "" "" "0000282925" "04214" "00389384" "00000" "Familial, autosomal recessive" "60y" "age at genetic diagnosis mentioned" "" "59y" "" "" "" "" "" "" "unclassified / mixed" "" "" "0000283788" "04214" "00390250" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284469" "04214" "00390981" "00000" "Familial, autosomal recessive" "36y-40y" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" "" "0000285836" "04214" "00392589" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000285900" "04214" "00392653" "00000" "Familial, autosomal recessive" "" "initial diagnosis of isolated (sporadic) retinitis pigmentosa redifined to Bietti crystalline dystrophy" "" "" "" "" "" "" "" "" "Bietti crystalline dystrophy" "retinitis pigmentosa" "" "0000286653" "04214" "00393447" "00000" "Isolated (sporadic)" "40y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286655" "04214" "00393449" "00000" "Isolated (sporadic)" "43y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286660" "04214" "00393454" "00000" "Isolated (sporadic)" "35y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286662" "04214" "00393456" "00000" "Isolated (sporadic)" "43y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286663" "04214" "00393457" "00000" "Familial, autosomal recessive" "47y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286664" "04214" "00393458" "00000" "Isolated (sporadic)" "32y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286679" "04214" "00393473" "00000" "Isolated (sporadic)" "46y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286709" "04214" "00393503" "00000" "Isolated (sporadic)" "24y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286710" "04214" "00393504" "00000" "Isolated (sporadic)" "42y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286714" "04214" "00393508" "00000" "Isolated (sporadic)" "50y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286716" "04214" "00393510" "00000" "Isolated (sporadic)" "36y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286719" "04214" "00393513" "00000" "Familial, autosomal recessive" "42y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286721" "04214" "00393515" "00000" "Isolated (sporadic)" "26y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286728" "04214" "00393522" "00000" "Isolated (sporadic)" "45y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286729" "04214" "00393523" "00000" "Isolated (sporadic)" "29y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286731" "04214" "00393525" "00000" "Familial, autosomal recessive" "40y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286735" "04214" "00393529" "00000" "Familial, autosomal recessive" "64y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286736" "04214" "00393530" "00000" "Familial, autosomal recessive" "36y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286737" "04214" "00393531" "00000" "Isolated (sporadic)" "43y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286739" "04214" "00393533" "00000" "Isolated (sporadic)" "34y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286741" "04214" "00393535" "00000" "Isolated (sporadic)" "31y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286743" "04214" "00393537" "00000" "Isolated (sporadic)" "42y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286744" "04214" "00393538" "00000" "Isolated (sporadic)" "38y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286752" "04214" "00393546" "00000" "Isolated (sporadic)" "37y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286753" "04214" "00393547" "00000" "Isolated (sporadic)" "33y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286757" "04214" "00393551" "00000" "Isolated (sporadic)" "57y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286758" "04214" "00393552" "00000" "Isolated (sporadic)" "48y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286759" "04214" "00393553" "00000" "Isolated (sporadic)" "44y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286761" "04214" "00393555" "00000" "Isolated (sporadic)" "37y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286762" "04214" "00393556" "00000" "Isolated (sporadic)" "42y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286765" "04214" "00393559" "00000" "Isolated (sporadic)" "28y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286767" "04214" "00393561" "00000" "Isolated (sporadic)" "48y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286771" "04214" "00393565" "00000" "Isolated (sporadic)" "61y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286778" "04214" "00393572" "00000" "Isolated (sporadic)" "31y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286781" "04214" "00393575" "00000" "Isolated (sporadic)" "44y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286783" "04214" "00393577" "00000" "Isolated (sporadic)" "47y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286792" "04214" "00393586" "00000" "Isolated (sporadic)" "38y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286795" "04214" "00393589" "00000" "Isolated (sporadic)" "47y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286797" "04214" "00393591" "00000" "Isolated (sporadic)" "32y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286810" "04214" "00393604" "00000" "Isolated (sporadic)" "45y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286816" "04214" "00393610" "00000" "Isolated (sporadic)" "37y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286821" "04214" "00393615" "00000" "Isolated (sporadic)" "26y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286822" "04214" "00393616" "00000" "Isolated (sporadic)" "36y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286839" "04214" "00393633" "00000" "Isolated (sporadic)" "48y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286844" "04214" "00393638" "00000" "Isolated (sporadic)" "44y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286862" "04214" "00393656" "00000" "Isolated (sporadic)" "55y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286864" "04214" "00393658" "00000" "Familial, autosomal recessive" "45y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286872" "04214" "00393666" "00000" "Isolated (sporadic)" "57y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286876" "04214" "00393670" "00000" "Isolated (sporadic)" "56y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286893" "04214" "00393687" "00000" "Isolated (sporadic)" "39y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286894" "04214" "00393688" "00000" "Isolated (sporadic)" "34y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286907" "04214" "00393701" "00000" "Isolated (sporadic)" "38y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286913" "04214" "00393707" "00000" "Familial, autosomal recessive" "55y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286919" "04214" "00393713" "00000" "Familial, autosomal recessive" "52y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286929" "04214" "00393723" "00000" "Isolated (sporadic)" "47y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286938" "04214" "00393732" "00000" "Familial, autosomal recessive" "31y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286942" "04214" "00393736" "00000" "Familial, autosomal recessive" "41y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286973" "04214" "00393767" "00000" "Isolated (sporadic)" "48y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286974" "04214" "00393768" "00000" "Isolated (sporadic)" "42y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286979" "04214" "00393773" "00000" "Isolated (sporadic)" "50y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286997" "04214" "00393791" "00000" "Isolated (sporadic)" "37y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287001" "04214" "00393795" "00000" "Isolated (sporadic)" "25y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287005" "04214" "00393799" "00000" "Isolated (sporadic)" "42y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287006" "04214" "00393800" "00000" "Isolated (sporadic)" "36y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287007" "04214" "00393801" "00000" "Isolated (sporadic)" "34y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287012" "04214" "00393806" "00000" "Isolated (sporadic)" "42y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000287014" "04214" "00393808" "00000" "Familial, autosomal recessive" "43y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287015" "04214" "00393809" "00000" "Isolated (sporadic)" "38y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287022" "04214" "00393816" "00000" "Isolated (sporadic)" "42y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287024" "04214" "00393818" "00000" "Isolated (sporadic)" "30y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287025" "04214" "00393819" "00000" "Isolated (sporadic)" "52y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287026" "04214" "00393820" "00000" "Isolated (sporadic)" "32y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287033" "04214" "00393827" "00000" "Isolated (sporadic)" "44y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287034" "04214" "00393828" "00000" "Familial, autosomal recessive" "47y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287035" "04214" "00393829" "00000" "Familial, autosomal recessive" "55y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287038" "04214" "00393832" "00000" "Isolated (sporadic)" "34y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287040" "04214" "00393834" "00000" "Isolated (sporadic)" "45y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287049" "04214" "00393843" "00000" "Familial, autosomal recessive" "47y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287052" "04214" "00393846" "00000" "Isolated (sporadic)" "34y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287053" "04214" "00393847" "00000" "Familial, autosomal dominant" "40y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287054" "04214" "00393848" "00000" "Isolated (sporadic)" "55y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287056" "04214" "00393850" "00000" "Isolated (sporadic)" "36y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287057" "04214" "00393851" "00000" "Familial, autosomal dominant" "41y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287058" "04214" "00393852" "00000" "Familial, autosomal recessive" "39y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287061" "04214" "00393855" "00000" "Isolated (sporadic)" "29y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287063" "04214" "00393857" "00000" "Familial, autosomal recessive" "36y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287064" "04214" "00393858" "00000" "Familial, autosomal recessive" "33y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287065" "04214" "00393859" "00000" "Familial, autosomal recessive" "43y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287066" "04214" "00393860" "00000" "Isolated (sporadic)" "47y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287067" "04214" "00393861" "00000" "Familial, autosomal recessive" "46y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287069" "04214" "00393863" "00000" "Isolated (sporadic)" "30y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287070" "04214" "00393864" "00000" "Isolated (sporadic)" "32y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287074" "04214" "00393868" "00000" "Isolated (sporadic)" "55y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287080" "04214" "00393874" "00000" "Isolated (sporadic)" "36y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287086" "04214" "00393880" "00000" "Familial, autosomal recessive" "36y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287089" "04214" "00393883" "00000" "Isolated (sporadic)" "34y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287093" "04214" "00393887" "00000" "Isolated (sporadic)" "36y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287099" "04214" "00393893" "00000" "Familial, autosomal recessive" "45y" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000287109" "04214" "00393903" "00000" "Isolated (sporadic)" "36y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287110" "04214" "00393904" "00000" "Isolated (sporadic)" "43y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287122" "04214" "00393916" "00000" "Isolated (sporadic)" "51y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287123" "04214" "00393917" "00000" "Familial, autosomal recessive" "36y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287126" "04214" "00393920" "00000" "Isolated (sporadic)" "42y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287998" "04214" "00394798" "00000" "Familial, autosomal recessive" "" "inherited retinal disease other than retinitis pigmentosa" "" "" "" "" "" "" "" "" "Bietti crystalline dystrophy" "" "" "0000288008" "04214" "00394808" "00000" "Familial, autosomal recessive" "" "inherited retinal disease other than retinitis pigmentosa" "" "" "" "" "" "" "" "" "Bietti crystalline dystrophy" "" "" "0000288011" "04214" "00394811" "00000" "Familial, autosomal recessive" "" "inherited retinal disease other than retinitis pigmentosa" "" "" "" "" "" "" "" "" "Bietti crystalline dystrophy" "" "" "0000288012" "04214" "00394812" "00000" "Familial, autosomal recessive" "" "inherited retinal disease other than retinitis pigmentosa" "" "" "" "" "" "" "" "" "Bietti crystalline dystrophy" "" "" "0000288013" "04214" "00394813" "00000" "Familial, autosomal recessive" "" "inherited retinal disease other than retinitis pigmentosa" "" "" "" "" "" "" "" "" "Bietti crystalline dystrophy" "" "" "0000288627" "04214" "00395428" "00000" "Familial, autosomal recessive" "44y" "Night blindness, best corrected visual acuity 0.6/0.8" "43y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystrophy" "" "" "0000288916" "04214" "00395754" "00000" "Unknown" "80y1m" "" "40y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystrophy" "" "" "0000288917" "04214" "00395755" "00000" "Unknown" "43y7m" "" "43y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystrophy" "" "" "0000288918" "04214" "00395756" "00000" "Unknown" "36y7m" "" "36y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystrophy" "" "" "0000288919" "04214" "00395757" "00000" "Unknown" "67y8m" "" "57y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystrophy" "" "" "0000288922" "04214" "00395760" "00000" "Unknown" "39y4m" "" "30y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystrophy" "" "" "0000288930" "04214" "00395768" "00000" "Unknown" "51y6m" "" "50y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystrophy" "" "" "0000288957" "04214" "00395795" "00000" "Unknown" "39y5m" "" "33y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystrophy" "" "" "0000289003" "04214" "00395841" "00000" "Unknown" "39y11m" "" "21y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystrophy" "" "" "0000289008" "04214" "00395846" "00000" "Unknown" "36y10m" "" "33y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystrophy" "" "" "0000289037" "04214" "00395875" "00000" "Unknown" "50y2m" "" "45y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystrophy" "" "" "0000289084" "04214" "00395922" "00000" "Unknown" "68y7m" "" "45y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystrophy" "" "" "0000289110" "04214" "00395948" "00000" "Unknown" "55y11m" "" "10y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystrophy" "" "" "0000301420" "01680" "00409303" "00000" "Familial, autosomal recessive" "50y" "best corrected visual acuity right, left eye: 1.0,0.6, electroretinogram amplitudes (uV) right, left eye: 120,not determined; corneal deposit: no; numerous small retinal crystalline deposits concentrated in the posterior pole" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301421" "01680" "00409304" "00000" "Familial, autosomal recessive" "52y" "best corrected visual acuity right, left eye: 0.5,1.0,, electroretinogram amplitudes (uV) right, left eye: not determined,27; corneal deposit: no; numerous small retinal crystalline deposits concentrated in the posterior pole" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301422" "01680" "00409305" "00000" "Familial, autosomal recessive" "46y" "best corrected visual acuity right, left eye: 0.7,0.9, electroretinogram amplitudes (uV) right, left eye: 207,not determined; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301423" "01680" "00409306" "00000" "Familial, autosomal recessive" "38y" "best corrected visual acuity right, left eye: 0.2,1.5, electroretinogram amplitudes (uV) right, left eye: 274,296; corneal deposit: no; numerous small retinal crystalline deposits concentrated in the posterior pole" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301424" "01680" "00409307" "00000" "Familial, autosomal recessive" "52y" "best corrected visual acuity right, left eye: 0.9,0.7, electroretinogram amplitudes (uV) right, left eye: 385,not determined; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301425" "01680" "00409308" "00000" "Familial, autosomal recessive" "54y" "best corrected visual acuity right, left eye: 0.5,0.5, electroretinogram amplitudes (uV) right, left eye: 311,not determined; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301426" "01680" "00409309" "00000" "Familial, autosomal recessive" "47y" "best corrected visual acuity right, left eye: 1.2,1.2, electroretinogram amplitudes (uV) right, left eye: 312,not determined; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301427" "01680" "00409310" "00000" "Familial, autosomal recessive" "54y" "best corrected visual acuity right, left eye: 1.0,1.2, electroretinogram amplitudes (uV) right, left eye: 296,not determined; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301428" "01680" "00409311" "00000" "Familial, autosomal recessive" "26y" "best corrected visual acuity right, left eye: 0.5,0.6, electroretinogram amplitudes (uV) right, left eye: 329,323; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301429" "01680" "00409312" "00000" "Familial, autosomal recessive" "21y" "best corrected visual acuity right, left eye: 0.4,0.2, electroretinogram amplitudes (uV) right, left eye: 229,206; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301430" "01680" "00409313" "00000" "Familial, autosomal recessive" "45y" "best corrected visual acuity right, left eye: 0.8,0.05, electroretinogram amplitudes (uV) right, left eye: 71,29; corneal deposit: yes; numerous small retinal crystalline deposits concentrated in the posterior pole" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301433" "01680" "00409316" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301434" "01680" "00409317" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301435" "01680" "00409318" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301436" "01680" "00409319" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301437" "01680" "00409320" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301438" "01680" "00409321" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301439" "01680" "00409322" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301440" "01680" "00409323" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301441" "01680" "00409324" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301442" "01680" "00409325" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301443" "01680" "00409326" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301444" "01680" "00409327" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301445" "01680" "00409328" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301446" "01680" "00409329" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301447" "01680" "00409330" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301448" "01680" "00409331" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301449" "01680" "00409332" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301450" "01680" "00409333" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301451" "01680" "00409334" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301452" "01680" "00409335" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301453" "01680" "00409336" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301454" "01680" "00409337" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301455" "01680" "00409338" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301458" "01680" "00409341" "00000" "Isolated (sporadic)" "31y" "best corrected visual acuity right; left eye: 0.3; 0.02, fundus changes: crystalline deposit, carpet-like retinal degeneration, visual field: not available, electroretinogram rod response: not available, electroretinogram cone response: not availab" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301459" "01680" "00409342" "00000" "Familial, autosomal recessive" "25y" "best corrected visual acuity right; left eye: 0.2; 0.03, fundus changes: crystalline deposit, carpet-like retinal degeneration, pigment deposit, attenuated vesseles, visual field: not available, electroretinogram rod response: undetectable, electroretinogram cone response: undetectab" "24y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301460" "01680" "00409343" "00000" "Familial, autosomal recessive" "33y" "best corrected visual acuity right; left eye: not available, fundus changes: crystalline deposit, carpet-like retinal degeneration, pigment deposit, attenuated vesseles, visual field: not available, electroretinogram rod response: severely reduced, electroretinogram cone response: severely reduc" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301461" "01680" "00409344" "00000" "Isolated (sporadic)" "41y" "best corrected visual acuity right; left eye: not available, fundus changes: crystalline deposit, carpet-like retinal degeneration, choroidal sclerosis, visual field: not available, electroretinogram rod response: not available, electroretinogram cone response: not availab" "25y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301462" "01680" "00409345" "00000" "Familial, autosomal recessive" "25y" "best corrected visual acuity right; left eye: 0.06; 0.3, fundus changes: crystalline deposit, carpet-like retinal degeneration, attenuated vesseles, visual field: not available, electroretinogram rod response: not available, electroretinogram cone response: not availab" "17y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301463" "01680" "00409346" "00000" "Isolated (sporadic)" "25y" "best corrected visual acuity right; left eye: 0.4; 0.5, fundus changes: crystalline deposit, carpet-like retinal degeneration, attenuated vesseles, visual field: not available not available, electroretinogram rod response: undetectable, electroretinogram cone response: undetectable not availab" "20y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301464" "01680" "00409347" "00000" "Familial, autosomal recessive" "30y" "best corrected visual acuity right; left eye: hand movement; FC, fundus changes: crystalline deposit, carpet-like retinal degeneration, pigment deposit, choroidal sclerosis, visual field: not available, electroretinogram rod response: not available, electroretinogram cone response: not availab" "20y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301465" "01680" "00409348" "00000" "Familial, autosomal recessive" "38y" "best corrected visual acuity right; left eye: 0.5; 0.5, fundus changes: crystalline deposit, carpet-like retinal degeneration, pigment deposit, visual field: central scotoma, electroretinogram rod response: normal, electroretinogram cone response: norm" "37y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301466" "01680" "00409349" "00000" "Familial, autosomal recessive" "37y" "best corrected visual acuity right; left eye: 0.9; 0.7, fundus changes: crystalline deposit, carpet-like retinal degeneration, attenuated vesseles, visual field: not available, electroretinogram rod response: normal, electroretinogram cone response: severely reduc" "36y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301467" "01680" "00409350" "00000" "Familial, autosomal recessive" "39y" "best corrected visual acuity right; left eye: 0.4; 0.4, fundus changes: crystalline deposit, carpet-like retinal degeneration, pigment deposit, attenuated vesseles, visual field: not available not available, electroretinogram rod response: not available undetectable, electroretinogram cone response: not available undetectab" "29y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301468" "01680" "00409351" "00000" "Familial, autosomal recessive" "39y" "best corrected visual acuity right; left eye: 0.3; 0.2, fundus changes: crystalline deposit, carpet-like retinal degeneration, pigment deposit, choroidal sclerosis, attenuated vesseles, visual field: not available not available, electroretinogram rod response: undetectable, electroretinogram cone response: undetectab" "30y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301469" "01680" "00409352" "00000" "Isolated (sporadic)" "33y" "best corrected visual acuity right; left eye: 0.1; 0.4, fundus changes: crystalline deposit, carpet-like retinal degeneration, pigment deposit, attenuated vesseles, visual field: central scotoma, electroretinogram rod response: undetectable, electroretinogram cone response: severely reduc" "30y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301470" "01680" "00409353" "00000" "Isolated (sporadic)" "26y" "best corrected visual acuity right; left eye: 1.5; 1.2, fundus changes: crystalline deposit, carpet-like retinal degeneration, pigment deposit, visual field: paracentral scotoma, electroretinogram rod response: mildly reduced, electroretinogram cone response: mildly reduc" "26y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301471" "01680" "00409354" "00000" "Isolated (sporadic)" "33y" "best corrected visual acuity right; left eye: 0.4; 0.1, fundus changes: crystalline deposit, carpet-like retinal degeneration, pigment deposit, choroidal sclerosis, visual field: not available, electroretinogram rod response: not available, electroretinogram cone response: not availab" "30y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301472" "01680" "00409355" "00000" "Isolated (sporadic)" "33y" "best corrected visual acuity right; left eye: 0.4; 1.2, fundus changes: crystalline deposit, carpet-like retinal degeneration, pigment deposit, visual field: not available, electroretinogram rod response: normal, electroretinogram cone response: moderately reduc" "33y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301473" "01680" "00409356" "00000" "Familial, autosomal recessive" "33y" "best corrected visual acuity right; left eye: 0.1; 0.1, fundus changes: crystalline deposit, carpet-like retinal degeneration, pigment deposit, choroidal sclerosis, attenuated vesseles, visual field: central scotoma, electroretinogram rod response: undetectable, electroretinogram cone response: undetectab" "13y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301474" "01680" "00409357" "00000" "Isolated (sporadic)" "46y" "best corrected visual acuity right; left eye: 0.2; 0.3, fundus changes: crystalline deposit, carpet-like retinal degeneration, pigment deposit, choroidal sclerosis, visual field: not available, electroretinogram rod response: undetectable, electroretinogram cone response: undetectab" "34y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301475" "01680" "00409358" "00000" "Isolated (sporadic)" "36y" "best corrected visual acuity right; left eye: 0.1; 0.5, fundus changes: crystalline deposit, carpet-like retinal degeneration, pigment deposit, choroidal sclerosis, visual field: not available, electroretinogram rod response: not available, electroretinogram cone response: not availab" "<6y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301476" "01680" "00409359" "00000" "Familial, autosomal recessive" "47y" "best corrected visual acuity right; left eye: 0.9; 0.9, fundus changes: crystalline deposit, carpet-like retinal degeneration, pigment deposit, choroidal sclerosis, visual field: tubular, electroretinogram rod response: undetectable, electroretinogram cone response: undetectab" "30y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301477" "01680" "00409360" "00000" "Familial, autosomal recessive" "31y" "best corrected visual acuity right; left eye: 0.5; 0.1, fundus changes: crystalline deposit, carpet-like retinal degeneration, pigment deposit, choroidal sclerosis, visual field: not available, electroretinogram rod response: not available, electroretinogram cone response: not availab" "29y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301478" "01680" "00409361" "00000" "Isolated (sporadic)" "33y" "best corrected visual acuity right; left eye: 0.05; 0.06, fundus changes: crystalline deposit, carpet-like retinal degeneration, pigment deposit, visual field: central scotoma, electroretinogram rod response: severely reduced, electroretinogram cone response: moderately reduc" "21y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301484" "04214" "00409367" "00000" "Familial, autosomal recessive" "29y" "fundus and infrared images of both eyes: numerous tiny glittering crystals at the posterior pole of the fundus with differing extent of atrophy of the retinal pigment epithelium" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301485" "04214" "00409368" "00000" "Familial, autosomal recessive" "53y" "best corrected visual acuity right/left eye: hand movement/0.02, corneal thickness (mm) right/left eye: 471/476; fundus: peripheral pigmentation; retinal vascular attenuation; retinal and choroidal atrophy" "18y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301486" "04214" "00409369" "00000" "Familial, autosomal recessive" "60y" "best corrected visual acuity right/left eye: light perception/light perception, corneal thickness (mm) right/left eye: 469/474; fundus: peripheral pigmentation; retinal vascular attenuation; retinal and choroidal atrophy" "27y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301487" "04214" "00409370" "00000" "Familial, autosomal recessive" "57y" "best corrected visual acuity right/left eye: light perception/light perception, corneal thickness (mm) right/left eye: 468/476; fundus: peripheral pigmentation; retinal vascular attenuation; retinal and choroidal atrophy" "25y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301488" "04214" "00409371" "00000" "Familial, autosomal recessive" "55y" "best corrected visual acuity right/left eye: light perception/hand movement, corneal thickness (mm) right/left eye: 474/476; fundus: peripheral pigmentation; retinal vascular attenuation; retinal and choroidal atrophy" "28y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301489" "01680" "00409372" "00000" "Familial, autosomal recessive" "43y" "best corrected visual acuity right/left eye: 20/200, 20/125, refractive error (spherical equivalent): -10.5, -10.5 , age at onset of decrease of visual acuity: 11y, age at onset of decrease of night blindness: 30y" "11y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301490" "01680" "00409373" "00000" "Familial, autosomal recessive" "61y" "best corrected visual acuity right/left eye: 20/400, hand movement, age at onset of decrease of visual acuity: 55y, age at onset of decrease of night blindness: 55y" "55y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301491" "01680" "00409374" "00000" "Familial, autosomal recessive" "55y" "best corrected visual acuity right/left eye: 20/200, 20/125, refractive error (spherical equivalent): -2.75, -2.75 , age at onset of decrease of visual acuity: 44y, age at onset of decrease of night blindness: 49y" "44y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301492" "01680" "00409375" "00000" "Familial, autosomal recessive" "44y" "best corrected visual acuity right/left eye: 20/200, 20/50, age at onset of decrease of visual acuity: 34y, age at onset of decrease of night blindness: 41y" "34y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301493" "01680" "00409376" "00000" "Familial, autosomal recessive" "57y" "initial visual acuity right, left eye: not available; current best corrected visual acuity right, left eye: 20/100, 20/50; refraction right, left eye: 0.50 +2.00 x 180deg, plano + 1.50 x 180deg; initial visual field: not available; current visual field right/left eye: 70deg (V4e) 65deg (III4e) / 70deg (V4e) 65 (III4e), nyctalopia, no photophobia, color vision defect: none; cornea: clear; lens: early cortical changes left eye, macula: relative foveal sparing, peripheral retina: areas of retinal pigment epithelium atrophy and choroidal sclerosis normal vessel caliber, peripheral bony spicules, electroretinogram: cone: 25% residual function, rod: 20% residual function; fundus autofluorescence and optical coherence tomography: fundus autofluorescence: patchy hypofluorescence domain optical coherence tomography: intraretinal and subretinal crystals and edema" "30y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301494" "01680" "00409377" "00000" "Familial, autosomal recessive" "67y" "initial visual acuity right, left eye: not available; current best corrected visual acuity right, left eye: 20/150, 12/400; refraction right, left eye: 1.50 +1 x 180deg, 1.50 +1 x 180deg; initial visual field: not available; current visual field right/left eye: 70deg with pericentral defect (V4e), peripheral island (I4e) / 70deg with patchy defects (V4e), 5deg with peripheral island (I4e), nyctalopia, no photophobia, color vision defect: none; cornea: clear; lens: posterior subcapsular cataract, macula: macular involvement, peripheral retina: crystals in periphery and posterior pole, choroidal sclerosis, tigroid, electroretinogram: cone: 5uV out of 120uV b wave, rod: 12uV out of 220uV b wave; fundus autofluorescence and optical coherence tomography: foveal thinning, remodeling, intraretinal and subretinal crystals" "45y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301495" "01680" "00409378" "00000" "Familial, autosomal recessive" "47y" "initial visual acuity right, left eye: 20/100, 20/200 (age 38); current best corrected visual acuity right, left eye: 1/30, light perception; refraction right, left eye: 4.75 1.75 x 95deg, 5.0 1.5 x 90deg; initial visual field: Concentric narrowing ;to 5deg with target III4e, peripheral residual slim islands (age 38); current visual field both eyes: residual islands peripheral (target V4e), central island <3deg, nyctalopia, photophobia, color vision defect: none; cornea: clear; lens: cortical opacities, macula: atrophic, peripheral retina: optic disks vital, narrow vessels, generalized retinal pigment epithelium atrophy, crystalline deposits, electroretinogram: non recordable; fundus autofluorescence and optical coherence tomography: retinal atrophy, crystalline deposits" "30y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301496" "01680" "00409379" "00000" "Familial, autosomal recessive" "54y" "initial visual acuity right, left eye: not available; current best corrected visual acuity right, left eye: hand movement, hand movement; refraction right, left eye: 1.75 0.5 x 76deg, 0.75 1.0 x 66deg; initial visual field: not available; current visual field both eyes: residual islands peripheral (target V4e), nyctalopia, no photophobia, color vision defect: none; cornea: limbus: crystalline deposits; lens: crystalline deposits, posterior subcapsular cataract, macula: huge macular hole with neurosensoric detachment on right eye, macula atrophic left eye, peripheral retina: optic disks vital, narrow vessels, generalized retinal pigment epithelium atrophy, crystalline deposits, electroretinogram: non recordable; fundus autofluorescence and optical coherence tomography: right eye: huge macular hole and neurosensoric detachment left eye: retinal atrophy, crystalline deposits; depression, elevated blood pressure, elevated cholesterol levels" "24y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301497" "01680" "00409380" "00000" "Familial, autosomal recessive" "41y" "initial visual acuity right, left eye: 20/20, 20/20; current best corrected visual acuity right, left eye: 20/20, 20/20; refraction right, left eye: 1.25 0.5 x 105deg, 1.0 0.75 x 77deg; initial visual field: not available; current visual field both eyes: normal outer boundaries with III4e, decreased sensitivity and “patchy” defects with I4e and I3e targets , nyctalopia, no photophobia, color vision defect:present; cornea: clear; lens: clear, macula: none commented, peripheral retina: optic disks vital, peripapillary atrophy, vessels moderately attenuated, posterior pole with patchy retinal pigment epithelium-atrophy and crystalline deposits, some pigment clumps, full-field electroretinogram: scotopic and photopic responses on the lower normal limits, somewhat delayed it; multifocal electroretinogram: central responses with almost normal amplitudes and it, in outer rings it delayed, amplitude subnormal; fundus autofluorescence and optical coherence tomography: retinal atrophy, crystalline deposits, centralina (fovea) with almost intact photoreceptors; patient notes central vision defects and difficulty reading" "20y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301498" "01680" "00409381" "00000" "Familial, autosomal recessive" "49y" "initial visual acuity right, left eye: 20/40, 20/40; current best corrected visual acuity right, left eye: hand movement, 20/400; refraction right, left eye: plano, plano; initial visual field: right eye: normal peripheral limits, pericentral sensitivity loss (I2 not seen), central relative scotoma (I3 and I4), enlarged blind spot, left eye: normal peripheral limits, pericentral sensitivity loss (I2 not seen), enlarged blind spot; current visual field right/left eye: mild concentric constriction, central scotoma (V4), residual temporal crescen (III4), I2 and I3 not seenmild concentric constriction, central scotoma with small preserved patch nasal to blind spot (V4), nyctalopia, no photophobia, color vision defect: severe R/G; severe B/Y; cornea: very small peripheral crystals; lens: mild lenticular sclerosis, macula: extreme outer retinal and choriocapillaris atrophy, small white inner retinal crystals, peripheral retina: patchy outer retinal and choriocapillaris atrophy with fine white retinal crystals mostly in midperiphery, spicular inner retinal pigment migration with some larger pigment patches, small scalloped patches of preserved retina in periphery, electroretinogram: absent rod-specific and cone-specific responses; fundus autofluorescence and optical coherence tomography: outer retinal atrophy with fine retinal crystals at all levels, crystals most visible on infrared and redfree reflectance imaging, blue light fundus autofluorescence virtually absent" "31y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301499" "01680" "00409382" "00000" "Familial, autosomal recessive" "77y" "initial visual acuity right, left eye: 20/50, 20/200 (age 75); current best corrected visual acuity right, left eye: 20/100, 20/400; refraction right, left eye: +1.0 2.0 x 110deg, 0; initial visual field: not available; current visual field both eyes: not available, nyctalopia, photophobia (mild), color vision defect: not available; cornea: clear; lens: pseudophakic, macula: severe atrophy, crystals and yellow white flecks, peripheral retina: pigmentary changes, full-field electroretinogram: dark adapted electroretinogram 55% of normal, light adapted 45% of normal, flicker 40% of normal; mf electroretinogram: severe central amplitude reduction; fundus autofluorescence and optical coherence tomography: optical coherence tomography not available, fundus autofluorescence: multiple patchy areas of intensity loss" "57y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301500" "01680" "00409383" "00000" "Familial, autosomal recessive" "38y" "initial visual acuity right, left eye: 20/30, 20/25; current best corrected visual acuity right, left eye: 20/40, 20/30; refraction right, left eye: plano, plano; initial visual field: not available; current visual field right/left eye: mild concentric constriction, enlarged blind spot (V4) considerable sensitivity loss, doughnut shaped annular scotoma (I4), I2 and I3 not seen / considerable concentric constriction, enlarged blind spot (V4) considerable sensitivity loss, doughnut shaped annular scotoma (I4), I2 and I3 not seen, nyctalopia, no photophobia, color vision defect: medium R/G defect; severe B/Y; cornea: clear; lens: clear, macula: patchy outer retinal and choriocapillaris atrophy with fine white inner retinal crystals, peripheral retina: patchy outer retinal and choriocapillaris atrophy with fine white retinal crystals mostly in midperiphery, spicular inner retinal pigment migration, with some larger pigment patches, electroretinogram: absent rod-specific responses; residual cone-specific responses; fundus autofluorescence and optical coherence tomography: outer retinal atrophy with fine retinal crystals at all levels, crystals most visible on infrared and redfree reflectance imaging, blue light fundus autofluorescence shows hypofluorescent scalloped patches surrounded by thin interconnecting bridges of normo- and hyperautofluorescence" "30y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301501" "01680" "00409384" "00000" "Familial, autosomal recessive" "33y" "initial visual acuity right, left eye: 20/25, 20/40 (age 22); current best corrected visual acuity right, left eye: 20/40, 20/50; refraction right, left eye: -3.25 -1.25 x 7deg; initial visual field: concentric narrowing to 40deg with target III4e (age 22); current visual field right/left eye: concentric narrowing to 10deg, no peripheral islands (target III4e) / , nyctalopia, photophobia, color vision defect: present; cornea: clear; lens: cortical opacities, macula: macular edema and inferior gliosis, peripheral retina: optic disks vital, narrow vessels, retinal pigment epithelium atrophy, crystalline deposits, full-field electroretinogram: extinguished, multifocal electroretinogram central remaining responses; fundus autofluorescence and optical coherence tomography: cystoid macular edema, crystalline deposits; hearing problems, thalassemia minor, chronic nephropathy" "21y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301502" "01680" "00409385" "00000" "Familial, autosomal recessive" "51y" "initial visual acuity right, left eye: 20/20, 20/20; current best corrected visual acuity right, left eye: 20/40, 20/40 ; refraction right, left eye: plano, plano; initial visual field: right eye: concentric reduction, ring scotoma and residual central visual field island of central 5deg, left eye: constriction of peripheral visual field, ring scotoma, finally residual central island of central 5deg; current visual field both eyes: not available, nyctalopia, photophobia, color vision defect: present; cornea: crystalline deposits; lens: initially clear, finally primarily subcapsular post cataract, macula: diffuse crystalline deposits and reduced reflexes, peripheral retina: crystalline deposits, progressive atrophy during follow up, finally choroideremia-like fundus, electroretinogram: initially negative scotopic electroretinogram. finally nondetectable; fundus autofluorescence and optical coherence tomography: deposits in deep retinal layer, obscured in fluorescein angiography" "18y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301503" "01680" "00409386" "00000" "Familial, autosomal recessive" "31y" "best corrected visual acuity right, left eye: 20/50, 20/100; fundus findings: crystalline deposits, choroidal neavascularization, retinal pigment epithelium atrophy" "29y" "" "decrease of visual acuity, distortion of vision" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301504" "01680" "00409387" "00000" "Familial, autosomal recessive" "69y" "best corrected visual acuity right, left eye: 20/400, finger counting; fundus findings: crystalline deposits, retinal pigment epithelium atrophy" "65y" "" "decrease of visual acuity, nyctalopia" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301505" "01680" "00409388" "00000" "Familial, autosomal recessive" "31y" "best corrected visual acuity right, left eye: 20/25, 20/25; fundus findings: crystalline deposits, pigmentation, retinal pigment epithelium atrophy" "27y" "" "nyctalopia" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301506" "01680" "00409389" "00000" "Familial, autosomal recessive" "29y" "best corrected visual acuity right, left eye: 20/25, 20/30; fundus findings: crystalline deposits, retinal pigment epithelium atrophy" "28y" "" "decrease of visual acuity" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301507" "01680" "00409390" "00000" "Familial, autosomal recessive" "26y" "best corrected visual acuity right, left eye: 20/30, 20/50; fundus findings: crystalline deposits, retinal pigment epithelium atrophy" "14y" "" "nyctalopia" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301508" "01680" "00409391" "00000" "Familial, autosomal recessive" "45y" "monocular diplopia, nyctalopia, and photopsia, persisting for the previous 2; blood analysis and tests for autoantibodies: no abnormalities; initial examination: uncorrected visual acuity right, left eye: 12 / 20, 14 / 20; refractive errors of -2.625 Dsph in the right eye and -2.250 Dsph in the left eye; slit lamp examination: a few crystal deposits in the cornea; fundoscopy: numerous yellowish-white crystals over the whole retina; retinal pigment epithelium degeneration with choroidal atrophy more severe in the posterior pole than in the peripheral area; fluorescein angiography: a well-demarcated window defect due to retinal pigment epithelium degeneration and choroidal atrophy and punctate fluorescein blockage caused by retinal pigment epithelium hypertrophy; spectral-domain optical coherence tomography: generalized photoreceptor layer disruption and multiple small hyper-reflective crystals in the retina, retinal pigment epithelium-choriocapillary complex, and choroidal layers plus multiple circular structures with a hyper-reflective core; visual fields: central scotoma; electroretinogram: slightly reduced amplitudes, while multifocal electroretinogram revealed a loss of peak response in the fovea. 6 months later visual acuity and the ophthalmologic findings unchanged" "45y" "" "impaired vision in both eyes" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301510" "01680" "00409393" "00000" "Familial, autosomal recessive" "49y" "best corrected visual acuity right, left eye: 0.3 / 0.02; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "<19y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301511" "01680" "00409394" "00000" "Familial, autosomal recessive" "39y" "best corrected visual acuity right, left eye: 0.4 / 0.5; clinical stage: 2 - retinal pigment epithelium atrophy atrophy extends beyond the posterior pole, choriocapillaris atrophy in addition to the retinal pigment epithelium atrophy appears markedly at the posterior pole" "20y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301512" "01680" "00409395" "00000" "Familial, autosomal recessive" "34y" "best corrected visual acuity right, left eye: 0.3 / 0.3; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "24y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301513" "01680" "00409396" "00000" "Familial, autosomal recessive" "30y" "best corrected visual acuity right, left eye: 0.6 / 0.7; clinical stage: 2 - retinal pigment epithelium atrophy atrophy extends beyond the posterior pole, choriocapillaris atrophy in addition to the retinal pigment epithelium atrophy appears markedly at the posterior pole" "20y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301514" "01680" "00409397" "00000" "Familial, autosomal recessive" "37y" "best corrected visual acuity right, left eye: 0.4 / 0.1; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "32y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301515" "01680" "00409398" "00000" "Familial, autosomal recessive" "36y" "best corrected visual acuity right, left eye: 0.2 / 0.2; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "15y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301516" "01680" "00409399" "00000" "Familial, autosomal recessive" "36y" "best corrected visual acuity right, left eye: 0.05 / 0.05; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "32y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301517" "01680" "00409400" "00000" "Familial, autosomal recessive" "29y" "best corrected visual acuity right, left eye: 0.4 / hand movement; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "<19y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301518" "01680" "00409401" "00000" "Familial, autosomal recessive" "36y" "best corrected visual acuity right, left eye: finger counting / finger counting; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "26y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301519" "01680" "00409402" "00000" "Familial, autosomal recessive" "40y" "best corrected visual acuity right, left eye: 0.4 / 0.5; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "12y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301520" "01680" "00409403" "00000" "Familial, autosomal recessive" "40y" "best corrected visual acuity right, left eye: finger counting / finger counting; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "20y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301521" "01680" "00409404" "00000" "Familial, autosomal recessive" "40y" "best corrected visual acuity right, left eye: 0.2 / 0.01; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "23y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301522" "01680" "00409405" "00000" "Familial, autosomal recessive" "40y" "best corrected visual acuity right, left eye: 0.4 / 0.3; clinical stage: 2 - retinal pigment epithelium atrophy atrophy extends beyond the posterior pole, choriocapillaris atrophy in addition to the retinal pigment epithelium atrophy appears markedly at the posterior pole" "32y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301523" "01680" "00409406" "00000" "Familial, autosomal recessive" "47y" "best corrected visual acuity right, left eye: 0.04 / 0.5; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "42y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301524" "01680" "00409407" "00000" "Familial, autosomal recessive" "32y" "best corrected visual acuity right, left eye: 0.3 / finger counting; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "22y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301525" "01680" "00409408" "00000" "Familial, autosomal recessive" "32y" "best corrected visual acuity right, left eye: 0.2 / 0.02; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "27y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301526" "01680" "00409409" "00000" "Familial, autosomal recessive" "65y" "best corrected visual acuity right, left eye: 0.02 / 0.06; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "11y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301527" "01680" "00409410" "00000" "Familial, autosomal recessive" "29y" "best corrected visual acuity right, left eye: 0.7 / 0.1; clinical stage: 2 - retinal pigment epithelium atrophy atrophy extends beyond the posterior pole, choriocapillaris atrophy in addition to the retinal pigment epithelium atrophy appears markedly at the posterior pole" "12y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301528" "01680" "00409411" "00000" "Familial, autosomal recessive" "63y" "best corrected visual acuity right, left eye: 0.01 / 0.01; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "24y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301529" "01680" "00409412" "00000" "Familial, autosomal recessive" "50y" "best corrected visual acuity right, left eye: 0.1 / 0.1; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "24y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301530" "01680" "00409413" "00000" "Familial, autosomal recessive" "32y" "best corrected visual acuity right, left eye: finger counting / finger counting; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "21y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301531" "01680" "00409414" "00000" "Familial, autosomal recessive" "58y" "best corrected visual acuity right, left eye: hand movement / hand movement; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "20y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301532" "01680" "00409415" "00000" "Familial, autosomal recessive" "28y" "best corrected visual acuity right, left eye: 0.4 / 0.4; clinical stage: 2 - retinal pigment epithelium atrophy atrophy extends beyond the posterior pole, choriocapillaris atrophy in addition to the retinal pigment epithelium atrophy appears markedly at the posterior pole" "8y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301533" "01680" "00409416" "00000" "Familial, autosomal recessive" "40y" "best corrected visual acuity right, left eye: 0.4 / 0.2; clinical stage: 2 - retinal pigment epithelium atrophy atrophy extends beyond the posterior pole, choriocapillaris atrophy in addition to the retinal pigment epithelium atrophy appears markedly at the posterior pole" "11y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301534" "01680" "00409417" "00000" "Familial, autosomal recessive" "40y" "best corrected visual acuity right, left eye: 0.4 / 0.2; clinical stage: 2 - retinal pigment epithelium atrophy atrophy extends beyond the posterior pole, choriocapillaris atrophy in addition to the retinal pigment epithelium atrophy appears markedly at the posterior pole" "11y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301535" "01680" "00409418" "00000" "Familial, autosomal recessive" "" "best corrected visual acuity right, left eye: 0.04 / 0.02; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301536" "01680" "00409419" "00000" "Familial, autosomal recessive" "" "best corrected visual acuity right, left eye: hand movement / hand movement; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301537" "01680" "00409420" "00000" "Familial, autosomal recessive" "43y" "best corrected visual acuity right, left eye: 0.2 / 0.2; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "20y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301538" "01680" "00409421" "00000" "Familial, autosomal recessive" "50y" "best corrected visual acuity right, left eye: finger counting / 0.1; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "41y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301539" "01680" "00409422" "00000" "Familial, autosomal recessive" "" "best corrected visual acuity right, left eye: 0.7 / 0.8; clinical stage: 1 - retinal pigment epithelium atrophy in the posterior pole, with uniform, fine, white, crystalline deposits" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301540" "01680" "00409423" "00000" "Familial, autosomal recessive" "27y" "best corrected visual acuity right, left eye: 0.1 / 0.8; clinical stage: 2 - retinal pigment epithelium atrophy atrophy extends beyond the posterior pole, choriocapillaris atrophy in addition to the retinal pigment epithelium atrophy appears markedly at the posterior pole" "25y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301541" "01680" "00409424" "00000" "Familial, autosomal recessive" "24y" "best corrected visual acuity right, left eye: 0.8 / 0.8; clinical stage: 1 - retinal pigment epithelium atrophy in the posterior pole, with uniform, fine, white, crystalline deposits" "20y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301542" "01680" "00409425" "00000" "Familial, autosomal recessive" "35y" "best corrected visual acuity right, left eye: finger counting / 0.3; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "28y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301543" "01680" "00409426" "00000" "Familial, autosomal recessive" "42y" "best corrected visual acuity right, left eye: 0.2 / 0.1; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "23y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301544" "01680" "00409427" "00000" "Familial, autosomal recessive" "41y" "best corrected visual acuity right, left eye: finger counting / hand movement; clinical stage: 3 - retinal pigment epithelium - choriocapillaris atrophy is observed throughout the fundus" "30y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301545" "01680" "00409428" "00000" "Familial, autosomal recessive" "27y" "best corrected visual acuity right, left eye: 0.6 / 0.7; clinical stage: 1 - retinal pigment epithelium atrophy in the posterior pole, with uniform, fine, white, crystalline deposits" "22y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301546" "01680" "00409429" "00000" "Familial, autosomal recessive" "" "best corrected visual acuity right, left eye: 0.7 / 0.8; clinical stage: 2 - retinal pigment epithelium atrophy atrophy extends beyond the posterior pole, choriocapillaris atrophy in addition to the retinal pigment epithelium atrophy appears markedly at the posterior pole" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301547" "01680" "00409430" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301548" "01680" "00409431" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301549" "01680" "00409432" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301550" "01680" "00409433" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301551" "01680" "00409434" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301552" "01680" "00409435" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301553" "01680" "00409436" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301554" "01680" "00409437" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301555" "01680" "00409438" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301556" "01680" "00409439" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301557" "01680" "00409440" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301558" "01680" "00409441" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301559" "04214" "00409442" "00000" "Familial, autosomal recessive" "66y" "choroideremia-like phenotype; initial evaluation 47y: best-corrected visual acuity (BCVA): 1.2/1.2 (+1.50 diopter [dpt], cylinder [cyl] -0.50 diopter axis [Ax] 90deg) in the right eye and 1.2 (with +1.50 diopter, cylinder -0.50 diopter Ax 110deg); intraocular pressure: 10 mmHg; slit-lamp examination: mild lens opacity both eyes; ophthalmoscopy: chorioretinal degeneration with attenuated large choroidal vessels in the posterior pole to the mid-periphery; color vision: mono-ocularly evaluated, patient identified 6/25 (right) and 4/25 (left) plates in the Ishihara test, Farnsworth Panel D-15 - protan color vision defect; electroretinography: non-recordable responses from maximal combined cone and rod ERG in both eyes; BCVA at the age of 55y: 1.0 in both eyes, BCVA 61y - 0.4 in both eyes; funduscopy: diffuse chorioretinal atrophy without glistening intraretinal dots; Goldmann perimetry: markedly constricted visual fields in both eyes; 66y: BCVA deteriorated to hand motion in both eyes" "47y" "" "" "" "" "" "" "" "retinitis pigmentosa?" "" "" "0000301560" "01680" "00409443" "00000" "Familial, autosomal recessive" "76y" "best corrected visual acuity right/left eye: finger counting/0.2" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301561" "01680" "00409444" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301562" "01680" "00409445" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301563" "01680" "00409446" "00000" "Familial, autosomal recessive" "39y" "best corrected visual acuity right/left eye: 0.1/0.06; electroretinogram (rod): extinguished; electroretinogram (cone): extinguished" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301564" "01680" "00409447" "00000" "Familial, autosomal recessive" "38y" "best corrected visual acuity right/left eye: 0.1/0.4" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301565" "01680" "00409448" "00000" "Familial, autosomal recessive" "47y" "best corrected visual acuity right/left eye: 0.1/0.3; electroretinogram (rod): extinguished; electroretinogram (cone): extinguished" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301566" "01680" "00409449" "00000" "Familial, autosomal recessive" "35y" "best corrected visual acuity right/left eye: hand movement/hand movement; electroretinogram (rod): extinguished; electroretinogram (cone): extinguished" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301567" "01680" "00409450" "00000" "Familial, autosomal recessive" "35y" "best corrected visual acuity right/left eye: 0.01/0.01; electroretinogram (rod): extinguished; electroretinogram (cone): extinguished" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301568" "01680" "00409451" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301569" "01680" "00409452" "00000" "Familial, autosomal recessive" "33y" "best corrected visual acuity right/left eye: 0.5/0.4; electroretinogram (rod): reduced; electroretinogram (cone): reduced" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301570" "01680" "00409453" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301571" "01680" "00409454" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301572" "01680" "00409455" "00000" "Familial, autosomal recessive" "47y" "best corrected visual acuity right/left eye: 0.1/0.024; electroretinogram (rod): extinguished; electroretinogram (cone): extinguished" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301573" "01680" "00409456" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301574" "01680" "00409457" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301575" "01680" "00409458" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301576" "01680" "00409459" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301577" "01680" "00409460" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301578" "01680" "00409461" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301579" "01680" "00409462" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301580" "01680" "00409463" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301581" "01680" "00409464" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301582" "01680" "00409465" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301583" "01680" "00409466" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301584" "01680" "00409467" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301585" "01680" "00409468" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301586" "01680" "00409469" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301587" "01680" "00409470" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301588" "01680" "00409471" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301589" "01680" "00409472" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301590" "01680" "00409473" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301591" "01680" "00409474" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301592" "01680" "00409475" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301593" "01680" "00409476" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301594" "01680" "00409477" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301595" "01680" "00409478" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301596" "01680" "00409479" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301597" "01680" "00409480" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301598" "01680" "00409481" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301599" "01680" "00409482" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301600" "01680" "00409483" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301601" "01680" "00409484" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301602" "01680" "00409485" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301603" "01680" "00409486" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301604" "01680" "00409487" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301605" "01680" "00409488" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301606" "01680" "00409489" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301607" "01680" "00409490" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301608" "01680" "00409491" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301609" "01680" "00409492" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301610" "01680" "00409493" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301611" "01680" "00409494" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301612" "01680" "00409495" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301613" "01680" "00409496" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301614" "01680" "00409497" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301615" "01680" "00409498" "00000" "Familial, autosomal recessive" "47y" "27y: night vision difficulties; more rapid vision loss during the course of two pregnancies; over the next 20 years, the vision in the right eye continued to decline to a current best corrected visual acuity right, left eye: of 20/200 (1.0 logMAR), 20/50 (0.4 logMAR); visual fields: progressive loss of sensitivity, greater in the pericentral region between 10 deg and 20 deg from fixation, with eventual development of scotomas that deepened and enlarged with time; full field electroretinography: initially normal in both eyes (27y), slowly declined over time, became statistically significant at 39y ; relatively symmetric progressive attenuation of rod-dependent and cone-dependent responses in both eyes; multifocal electroretinography: markedly attenuated central macular cone-dependent function, notably worse in the right eye; perimetry also showed asymmetric central and paracentral scotomas with the III4e and V4e isopters that were worse in the right, which deepened and enlarged especially over the past several years; III4e isopter area shows a progressively steep decline during ages 39-46. Retinal crystalline deposits visualised on colour photography and infrared imaging; corneal limbal crystalline deposits did not manifest clinically until 33y; wide-field fundus autofluorescence: confluent hypoautofluorescence of the posterior pole correlating with extensive retinal pigment epithelium atrophy in both eyes; 47y some intact macular autofluorescence remained, correlating with residual retinal pigment epithelium and better visual acuity in the left eye. Early phase wide-field fundus autofluorescence: confluent hyperfluorescent window defect of the posterior pole with patchy hypofluorescent choroidal atrophy; 44y, cystoid macular oedema (CME), worse in the right eye on optical coherence tomography" "25y" "" "reduced visual acuity in the right eye - 20/50 (0.4 logMAR)" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301616" "01680" "00409499" "00000" "Familial, autosomal recessive" "64y" "right eye: best corrected visual acuity: 20/17; axial length: 23.53; Humphrey field analyzer with the 10-2 SITA standard program, dB: -4.22; electroretinogram cone flicker, amplitude, uV: 96, latency, ms: 25.6" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301617" "01680" "00409500" "00000" "Familial, autosomal recessive" "65y" "right eye: best corrected visual acuity: 20/25; axial length: 23.95; Humphrey field analyzer with the 10-2 SITA standard program, dB: -26.81; electroretinogram cone flicker, amplitude, uV: 67.5, latency, ms: 30.2" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301620" "01680" "00409503" "00000" "Familial, autosomal recessive" "60y" "right eye: best corrected visual acuity: 20/25; axial length: 24.68; Humphrey field analyzer with the 10-2 SITA standard program, dB: -33.52; electroretinogram cone flicker, amplitude, uV: 18.2, latency, ms: 28.8" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301624" "01680" "00409507" "00000" "Familial, autosomal recessive" "58y" "right eye: best corrected visual acuity: 20/40; axial length: 23.73; Humphrey field analyzer with the 10-2 SITA standard program, dB: -24.4; electroretinogram cone flicker, amplitude, uV: 39.8, latency, ms: 28" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301625" "01680" "00409508" "00000" "Familial, autosomal recessive" "53y" "right eye: best corrected visual acuity: 20/500; axial length: 23.51; Humphrey field analyzer with the 10-2 SITA standard program, dB: -34.33; electroretinogram cone flicker, amplitude, uV: 7.4, latency, ms: 34" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301632" "01680" "00409515" "00000" "Familial, autosomal recessive" "54y" "right eye: best corrected visual acuity: 20/133; axial length: 25.43; Humphrey field analyzer with the 10-2 SITA standard program, dB: -32.26; electroretinogram cone flicker, amplitude, uV: 25.7, latency, ms: 28.4" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301633" "01680" "00409516" "00000" "Familial, autosomal recessive" "60y" "right eye: best corrected visual acuity: 20/13; axial length: 22.94; Humphrey field analyzer with the 10-2 SITA standard program, dB: -31.92; electroretinogram cone flicker, amplitude, uV: extinguished, latency, ms: extinguished" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301634" "01680" "00409517" "00000" "Familial, autosomal recessive" "52y" "right eye: best corrected visual acuity: 20/200; axial length: 25.08; Humphrey field analyzer with the 10-2 SITA standard program, dB: -33.56; electroretinogram cone flicker, amplitude, uV: extinguished, latency, ms: extinguished" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301635" "01680" "00409518" "00000" "Familial, autosomal recessive" "58y" "right eye: best corrected visual acuity: 20/13; axial length: 22.77; Humphrey field analyzer with the 10-2 SITA standard program, dB: -31.56; electroretinogram cone flicker, amplitude, uV: extinguished, latency, ms: extinguished" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301641" "01680" "00409524" "00000" "Familial, autosomal recessive" "33y" "best corrected visual acuity right, left eye: 20/25, 20/30; eye complications: myopia, uveitis" "" "" "decreased vision" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301651" "01680" "00409534" "00000" "Familial, autosomal recessive" "51y" "corneal crystalline deposits: absent; best corrected distance visual acuity right, left eye: counting fingers 2 m, counting fingers 2 m" ">40y" "" "nyctalopia" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301652" "01680" "00409535" "00000" "Familial, autosomal recessive" "46y" "corneal crystalline deposits: absent; best corrected distance visual acuity right, left eye: 20/30, 20/30" ">40y" "" "nyctalopia" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301653" "01680" "00409536" "00000" "Familial, autosomal recessive" "42y" "corneal crystalline deposits: absent; best corrected distance visual acuity right, left eye: 20/200, 20/80" ">40y" "" "nyctalopia" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301654" "01680" "00409537" "00000" "Familial, autosomal recessive" "41y" "corneal crystalline deposits: absent; best corrected distance visual acuity right, left eye: 20/25, 20/30" ">40y" "" "nyctalopia" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301655" "01681" "00409538" "00000" "Familial, autosomal recessive" "60y" "best corrected visual acuity: 1.2; electroretinogram , rod: mildly reduced, cone: mildly reduced" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301656" "01682" "00409539" "00000" "Familial, autosomal recessive" "62y" "best corrected visual acuity: 0.6; electroretinogram , rod: mildly reduced, cone: mildly reduced" "61y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301657" "01683" "00409540" "00000" "Familial, autosomal recessive" "58y" "best corrected visual acuity: 0.4; electroretinogram , rod: severely reduced, cone: severely reduced" "30y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301658" "01684" "00409541" "00000" "Familial, autosomal recessive" "59y" "best corrected visual acuity: 1.2; electroretinogram , rod: mildly reduced, cone: mildly reduced" "48y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301659" "01685" "00409542" "00000" "Familial, autosomal recessive" "63y" "best corrected visual acuity: 1; electroretinogram , rod: non- recordable, cone: non- recordable" "45y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301660" "01686" "00409543" "00000" "Familial, autosomal recessive" "56y" "best corrected visual acuity: 0.7; electroretinogram , rod: severely reduced, cone: mildly reduced" "40y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301661" "01687" "00409544" "00000" "Familial, autosomal recessive" "45y" "best corrected visual acuity: 0.7; electroretinogram , rod: non- recordable, cone: non- recordable" "39y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301662" "01688" "00409545" "00000" "Familial, autosomal recessive" "53y" "best corrected visual acuity: 0.04; electroretinogram , rod: non- recordable, cone: severely reduced" "38y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301663" "01689" "00409546" "00000" "Familial, autosomal recessive" "65y" "best corrected visual acuity: 0.5; electroretinogram , rod: severely reduced, cone: severely reduced" "26y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301664" "01690" "00409547" "00000" "Familial, autosomal recessive" "64y" "best corrected visual acuity: 0.6; electroretinogram , rod: mildly reduced, cone: severely reduced" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301665" "01691" "00409548" "00000" "Familial, autosomal recessive" "45y" "best corrected visual acuity: 0.8; electroretinogram , rod: severely reduced, cone: severely reduced" "40y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301666" "01692" "00409549" "00000" "Familial, autosomal recessive" "55y" "best corrected visual acuity: 1.5; electroretinogram , rod: mildly reduced, cone: mildly reduced" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301667" "01693" "00409550" "00000" "Familial, autosomal recessive" "61y" "best corrected visual acuity: 1; electroretinogram , rod: non- recordable, cone: severely reduced" "50y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301668" "01694" "00409551" "00000" "Familial, autosomal recessive" "50y" "best corrected visual acuity: 0.3; electroretinogram , rod: non- recordable, cone: non- recordable" "40y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301669" "01695" "00409552" "00000" "Familial, autosomal recessive" "51y" "best corrected visual acuity: 0.5; electroretinogram , rod: n.a., cone: n.a." "" "36y" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301670" "01696" "00409553" "00000" "Familial, autosomal recessive" "53y" "best corrected visual acuity: 1.2; electroretinogram , rod: mildly reduced, cone: mildly reduced" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301671" "01697" "00409554" "00000" "Familial, autosomal recessive" "64y" "best corrected visual acuity: 0.3; electroretinogram , rod: non- recordable, cone: severely reduced" "50y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301672" "01698" "00409555" "00000" "Familial, autosomal recessive" "59y" "best corrected visual acuity: 0.07; electroretinogram , rod: n.a., cone: n.a." "20y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301673" "01699" "00409556" "00000" "Familial, autosomal recessive" "56y" "best corrected visual acuity: 1; electroretinogram , rod: n.a., cone: n.a." "55y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301674" "01700" "00409557" "00000" "Familial, autosomal recessive" "75y" "best corrected visual acuity: hand motion; electroretinogram , rod: non- recordable, cone: severely reduced" "60y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301675" "01701" "00409558" "00000" "Familial, autosomal recessive" "46y" "best corrected visual acuity: 0.6; electroretinogram , rod: non- recordable, cone: severely reduced" "40y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301676" "01702" "00409559" "00000" "Familial, autosomal recessive" "36y" "best corrected visual acuity: 1.2; electroretinogram , rod: n.a., cone: n.a." "35y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301677" "01680" "00409560" "00000" "Familial, autosomal recessive" "38y" "best corrected visual acuity right/left eye: 0.4/0.9; slit lamp: bilateral central and paracentral deposits; in vivo corneal confocal microscopy: bilateral subepithelial and anterior stromal deposits; funduscopy: multiple bilateral yellow crystalline deposits; fluorescein angiography: bilateral geographical areas of retinal pigmentary epithelium and choriocapilaris atrophy" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301678" "01680" "00409561" "00000" "Familial, autosomal recessive" "43y" "best corrected visual acuity right/left eye: 0.9/0.9; slit lamp: no; in vivo corneal confocal microscopy: no; funduscopy: bilateral tapetinal degeneration with few crystalline deposits; fluorescein angiography: bilateral geographical areas of retinal pigmentary epithelium and choriocapilaris atrophy" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301679" "01680" "00409562" "00000" "Familial, autosomal recessive" "58y" "best corrected visual acuity right/left eye: 0.7/0.2; slit lamp: bilateral corneal limbic deposits; in vivo corneal confocal microscopy: bilateral subepithelial and anterior stromal deposits; funduscopy: bilateral tapetinal degeneration with few crystalline deposits; fluorescein angiography: bilateral massive atrophy of the pigment epithelium" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301680" "01680" "00409563" "00000" "Familial, autosomal recessive" "36y" "best corrected visual acuity right/left eye: 0.7/0.8; slit lamp: bilateral corneal limbic deposits; in vivo corneal confocal microscopy: bilateral subepithelial and anterior stromal deposits; funduscopy: bilateral tapetinal degeneration with few crystalline deposits; fluorescein angiography: bilateral massive atrophy of the pigment epithelium" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301681" "01680" "00409565" "00000" "Isolated (sporadic)" "37y" "disease stage: 3; best corrected visual acuity right/left eye: 1.4/2; optical coherence tomography: not available" "20y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301682" "01680" "00409566" "00000" "Isolated (sporadic)" "44y" "disease stage: 3; best corrected visual acuity right/left eye: 2/1.7; optical coherence tomography: not available" "36y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301683" "01680" "00409567" "00000" "Isolated (sporadic)" "46y" "disease stage: 2/3; best corrected visual acuity right/left eye: 0.7/1.3; optical coherence tomography: not available" "39y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301684" "01680" "00409568" "00000" "Isolated (sporadic)" "43y" "disease stage: 3; best corrected visual acuity right/left eye: 0.7/0.52; optical coherence tomography: loss of the interdigitation zone, interruption of the ellipsoid zone" "29y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301685" "01680" "00409569" "00000" "Familial, autosomal recessive" "41y" "disease stage: 3; best corrected visual acuity right/left eye: 0.7/1; optical coherence tomography: not available" "27y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301686" "01680" "00409570" "00000" "Isolated (sporadic)" "38y" "disease stage: 3; best corrected visual acuity right/left eye: 1/1; optical coherence tomography: not available" "26y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301687" "01680" "00409571" "00000" "Isolated (sporadic)" "43y" "disease stage: 3; best corrected visual acuity right/left eye: 2/4; optical coherence tomography: not available" "20y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301688" "01680" "00409572" "00000" "Familial, autosomal recessive" "29y" "disease stage: 1/2; best corrected visual acuity right/left eye: 0.1/0; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301689" "01680" "00409573" "00000" "Isolated (sporadic)" "37y" "disease stage: 3; best corrected visual acuity right/left eye: 0.7/0.7; optical coherence tomography: not available" "30y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301690" "01680" "00409574" "00000" "Isolated (sporadic)" "37y" "disease stage: 2; best corrected visual acuity right/left eye: 0/0.3; optical coherence tomography: not available" "28y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301691" "01680" "00409575" "00000" "Isolated (sporadic)" "43y" "disease stage: 2; best corrected visual acuity right/left eye: 1/0.4; optical coherence tomography: not available" "12y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301692" "01680" "00409576" "00000" "Isolated (sporadic)" "45y" "disease stage: 3; best corrected visual acuity right/left eye: 0.52/0.52; optical coherence tomography: not available" "30y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301693" "01680" "00409577" "00000" "Familial, autosomal recessive" "51y" "disease stage: 3; best corrected visual acuity right/left eye: 2/2; optical coherence tomography: not available" "28y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301694" "01680" "00409578" "00000" "Isolated (sporadic)" "50y" "disease stage: 2; best corrected visual acuity right/left eye: 0.52/0.7; optical coherence tomography: not available" "38y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301695" "01680" "00409579" "00000" "Isolated (sporadic)" "37y" "disease stage: 3; best corrected visual acuity right/left eye: 1.1/1.52; optical coherence tomography: not available" "24y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301696" "01680" "00409580" "00000" "Isolated (sporadic)" "39y" "disease stage: 2/3; best corrected visual acuity right/left eye: 1/1; optical coherence tomography: not available" "23y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301697" "01680" "00409581" "00000" "Isolated (sporadic)" "43y" "disease stage: 3; best corrected visual acuity right/left eye: 0.3/0.22; optical coherence tomography: not available" "33y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301698" "01680" "00409582" "00000" "Isolated (sporadic)" "32y" "disease stage: 3; best corrected visual acuity right/left eye: 0.4/0.7; optical coherence tomography: not available" "18y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301699" "01680" "00409583" "00000" "Isolated (sporadic)" "35y" "disease stage: 3; best corrected visual acuity right/left eye: 0.15/0.92; optical coherence tomography: not available" "22y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301700" "01680" "00409584" "00000" "Isolated (sporadic)" "36y" "disease stage: 3; best corrected visual acuity right/left eye: 2/0.7; optical coherence tomography: not available" "27y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301701" "01680" "00409585" "00000" "Isolated (sporadic)" "42y" "disease stage: 3; best corrected visual acuity right/left eye: 1.22/1.22; optical coherence tomography: not available" "24y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301702" "01680" "00409586" "00000" "Isolated (sporadic)" "47y" "disease stage: 3; best corrected visual acuity right/left eye: 1/1; optical coherence tomography: not available" "33y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301703" "01680" "00409587" "00000" "Isolated (sporadic)" "43y" "disease stage: 3; best corrected visual acuity right/left eye: 1.7/1.7; optical coherence tomography: not available" "24y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301704" "01680" "00409588" "00000" "Isolated (sporadic)" "63y" "disease stage: 3; best corrected visual acuity right/left eye: 1/0.15; optical coherence tomography: not available" "30y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301705" "01680" "00409589" "00000" "Familial, autosomal recessive" "49y" "disease stage: 2; best corrected visual acuity right/left eye: 0.3/0.4; optical coherence tomography: not available" "32y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301706" "01680" "00409590" "00000" "Isolated (sporadic)" "58y" "disease stage: 3; best corrected visual acuity right/left eye: 1.7/1; optical coherence tomography: not available" "36y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301707" "01680" "00409591" "00000" "Isolated (sporadic)" "44y" "disease stage: 2; best corrected visual acuity right/left eye: 0.1/0.22; optical coherence tomography: not available" "34y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301708" "01680" "00409592" "00000" "Isolated (sporadic)" "27y" "disease stage: 3; best corrected visual acuity right/left eye: 0.7/1.7; optical coherence tomography: not available" "6y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301709" "01680" "00409593" "00000" "Isolated (sporadic)" "41y" "disease stage: 2/3; best corrected visual acuity right/left eye: 1/1.7; optical coherence tomography: not available" "34y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301710" "01680" "00409594" "00000" "Isolated (sporadic)" "36y" "disease stage: 1; best corrected visual acuity right/left eye: 0/0.08; optical coherence tomography: drusen-like deposits, interruption of the ellipsoid zone" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301711" "01680" "00409595" "00000" "Familial, autosomal recessive" "39y" "disease stage: 2/3; best corrected visual acuity right/left eye: 1.7/1.7; optical coherence tomography: LOE, interruption of the ellipsoid zone, ORT" "30y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301712" "01680" "00409596" "00000" "Isolated (sporadic)" "77y" "disease stage: 2/3; best corrected visual acuity right/left eye: 0.4/0.7; optical coherence tomography: LOE, interruption of the ellipsoid zone, ORT" "72y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301713" "01680" "00409597" "00000" "Isolated (sporadic)" "42y" "disease stage: 2/3; best corrected visual acuity right/left eye: 1/0.52; optical coherence tomography: not available" "41y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301714" "01680" "00409598" "00000" "Isolated (sporadic)" "31y" "disease stage: 2; best corrected visual acuity right/left eye: 0.1/0.7; optical coherence tomography: not available" "25y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301715" "01680" "00409599" "00000" "Isolated (sporadic)" "25y" "disease stage: 2; best corrected visual acuity right/left eye: 0.15/0.15; optical coherence tomography: not available" "17y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301716" "01680" "00409600" "00000" "Isolated (sporadic)" "29y" "disease stage: 2; best corrected visual acuity right/left eye: 0.4/0.4; optical coherence tomography: drusen-like deposits, LOE, interruption of the ellipsoid zone, ORT" "25y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301717" "01680" "00409601" "00000" "Isolated (sporadic)" "44y" "disease stage: 3; best corrected visual acuity right/left eye: 4/3; optical coherence tomography: not available" "6y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301718" "01680" "00409602" "00000" "Familial, autosomal recessive" "39y" "disease stage: 2; best corrected visual acuity right/left eye: 2/2; optical coherence tomography: not available" "25y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301719" "01680" "00409603" "00000" "Familial, autosomal recessive" "54y" "disease stage: 3; best corrected visual acuity right/left eye: 3/0.4; optical coherence tomography: not available" "29y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301720" "01680" "00409604" "00000" "Isolated (sporadic)" "35y" "disease stage: 2; best corrected visual acuity right/left eye: 1.1/1; optical coherence tomography: LOE, interruption of the ellipsoid zone, ORT" "30y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301721" "01680" "00409605" "00000" "Familial, autosomal recessive" "44y" "disease stage: 3; best corrected visual acuity right/left eye: 2/2; optical coherence tomography: not available" "35y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301722" "01680" "00409606" "00000" "Isolated (sporadic)" "50y" "disease stage: 2/3; best corrected visual acuity right/left eye: 0.7/0.7; optical coherence tomography: not available" "34y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301723" "01680" "00409607" "00000" "Isolated (sporadic)" "33y" "disease stage: 2/3; best corrected visual acuity right/left eye: 1.7/1.7; optical coherence tomography: not available" "27y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301724" "01680" "00409608" "00000" "Isolated (sporadic)" "34y" "disease stage: 2/3; best corrected visual acuity right/left eye: 0/0; optical coherence tomography: drusen-like deposits, LOE, interruption of the ellipsoid zone, ORT" "28y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301725" "01680" "00409609" "00000" "Isolated (sporadic)" "47y" "disease stage: 2; best corrected visual acuity right/left eye: 0.15/0.3; optical coherence tomography: loss of the interdigitation zone, interruption of the ellipsoid zone,macular CNV (O" "43y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301726" "01680" "00409610" "00000" "Isolated (sporadic)" "35y" "disease stage: 2/3; best corrected visual acuity right/left eye: 0.7/1.3; optical coherence tomography: drusen-like deposits, LOE, interruption of the ellipsoid zone, ORT" "23y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301727" "01680" "00409611" "00000" "Familial, autosomal recessive" "55y" "disease stage: 3; best corrected visual acuity right/left eye: 1/0.52; optical coherence tomography: loss of the interdigitation zone, interruption of the ellipsoid zone" "38y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301728" "01680" "00409612" "00000" "Familial, autosomal recessive" "67y" "disease stage: 3; best corrected visual acuity right/left eye: 4/4; optical coherence tomography: loss of the interdigitation zone, interruption of the ellipsoid zone" "36y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301729" "01680" "00409613" "00000" "Isolated (sporadic)" "48y" "disease stage: 3; best corrected visual acuity right/left eye: 3/1.4; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone,ORT, macular CNV (O" "30y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301730" "01680" "00409614" "00000" "Isolated (sporadic)" "33y" "disease stage: 2/3; best corrected visual acuity right/left eye: 1.3/1.22; optical coherence tomography: drusen-like deposits, LOE, interruption of the ellipsoid zone, ORT" "23y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301731" "01680" "00409615" "00000" "Isolated (sporadic)" "27y" "disease stage: 2; best corrected visual acuity right/left eye: 0.1/0.22; optical coherence tomography: drusen-like deposits, LOE, interruption of the ellipsoid zone" "21y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301732" "01680" "00409616" "00000" "Isolated (sporadic)" "41y" "disease stage: 3; best corrected visual acuity right/left eye: 1.3/1.3; optical coherence tomography: drusen-like deposits, LOE, interruption of the ellipsoid zone,O" "24y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301733" "01680" "00409617" "00000" "Isolated (sporadic)" "50y" "disease stage: 2/3; best corrected visual acuity right/left eye: 1/3; optical coherence tomography: drusen-like deposits, LOE, interruption of the ellipsoid zone, ORT" "40y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301734" "01680" "00409618" "00000" "Familial, autosomal recessive" "27y" "disease stage: 2; best corrected visual acuity right/left eye: 0.4/0.7; optical coherence tomography: not available" "15y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301735" "01680" "00409619" "00000" "Isolated (sporadic)" "24y" "disease stage: 2/3; best corrected visual acuity right/left eye: 2/1.4; optical coherence tomography: NA" "12y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301736" "01680" "00409620" "00000" "Isolated (sporadic)" "36y" "disease stage: 2; best corrected visual acuity right/left eye: 0.1/0.7; optical coherence tomography: NA" "33y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301737" "01680" "00409621" "00000" "Isolated (sporadic)" "39y" "disease stage: 2/3; best corrected visual acuity right/left eye: 1/2; optical coherence tomography: NA" "28y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301738" "01680" "00409622" "00000" "Isolated (sporadic)" "31y" "disease stage: 2; best corrected visual acuity right/left eye: 0.7/0.7; optical coherence tomography: NA" "20y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301739" "01680" "00409623" "00000" "Isolated (sporadic)" "35y" "disease stage: 2/3; best corrected visual acuity right/left eye: 0.1/0.52; optical coherence tomography: NA" "32y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301740" "01680" "00409624" "00000" "Isolated (sporadic)" "40y" "disease stage: 2/3; best corrected visual acuity right/left eye: 1.3/1.7; optical coherence tomography: NA" "35y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301741" "01680" "00409625" "00000" "Familial, autosomal recessive" "34y" "disease stage: 2; best corrected visual acuity right/left eye: 0.15/0.52; optical coherence tomography: NA" "32y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301742" "01680" "00409626" "00000" "Familial, autosomal recessive" "38y" "disease stage: 3; best corrected visual acuity right/left eye: 0.7/0.7; optical coherence tomography: NA" "35y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301743" "01680" "00409627" "00000" "Isolated (sporadic)" "43y" "disease stage: 3; best corrected visual acuity right/left eye: 3/3; optical coherence tomography: drusen-like deposits, LOE, interruption of the ellipsoid zone" "28y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301744" "01680" "00409628" "00000" "Isolated (sporadic)" "33y" "disease stage: 3; best corrected visual acuity right/left eye: 1.3/1.3; optical coherence tomography: drusen-like deposits, LOE, interruption of the ellipsoid zone, ORT" "21y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301745" "01680" "00409629" "00000" "Familial, autosomal recessive" "39y" "disease stage: 2/3; best corrected visual acuity right/left eye: 1.3/2; optical coherence tomography: drusen-like deposits, LOE, interruption of the ellipsoid zone, ORT" "24y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301746" "01680" "00409630" "00000" "Isolated (sporadic)" "27y" "disease stage: 2; best corrected visual acuity right/left eye: 0.22/0.22; optical coherence tomography: NA" "14y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301747" "01680" "00409631" "00000" "Familial, autosomal recessive" "49y" "disease stage: 3; best corrected visual acuity right/left eye: 0.3/0.4; optical coherence tomography: NA" "25y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301748" "01680" "00409632" "00000" "Isolated (sporadic)" "42y" "disease stage: 3; best corrected visual acuity right/left eye: 2/1.7; optical coherence tomography: NA" "18y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301749" "01680" "00409633" "00000" "Isolated (sporadic)" "41y" "disease stage: 2; best corrected visual acuity right/left eye: 0.4/0.7; optical coherence tomography: NA" "37y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301750" "01680" "00409634" "00000" "Isolated (sporadic)" "29y" "disease stage: 2; best corrected visual acuity right/left eye: 2/2; optical coherence tomography: NA" "27y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301751" "01680" "00409635" "00000" "Familial, autosomal recessive" "40y" "disease stage: 2/3; best corrected visual acuity right/left eye: 0.52/1; optical coherence tomography: NA" "23y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301752" "01680" "00409636" "00000" "Isolated (sporadic)" "32y" "disease stage: 2; best corrected visual acuity right/left eye: 0.1/0.1; optical coherence tomography: NA" "6y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301753" "01680" "00409637" "00000" "Isolated (sporadic)" "30y" "disease stage: 2; best corrected visual acuity right/left eye: 0.1/0; optical coherence tomography: drusen-like deposits, LOE, interruption of the ellipsoid zone, ORT" "24y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301754" "01680" "00409638" "00000" "Familial, autosomal recessive" "49y" "disease stage: 2/3; best corrected visual acuity right/left eye: 1/1; optical coherence tomography: NA" "25y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301755" "01680" "00409639" "00000" "Isolated (sporadic)" "55y" "disease stage: 3; best corrected visual acuity right/left eye: 1.4/1.7; optical coherence tomography: NA" "36y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301756" "01680" "00409640" "00000" "Isolated (sporadic)" "57y" "disease stage: 3; best corrected visual acuity right/left eye: 1/0.7; optical coherence tomography: NA" "46y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301757" "01680" "00409641" "00000" "Isolated (sporadic)" "40y" "disease stage: 2; best corrected visual acuity right/left eye: 0.3/0.22; optical coherence tomography: loss of the interdigitation zone" "36y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301758" "01680" "00409642" "00000" "Isolated (sporadic)" "40y" "disease stage: 3; best corrected visual acuity right/left eye: 0.52/0.7; optical coherence tomography: loss of the interdigitation zone" "35y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301759" "01680" "00409643" "00000" "Isolated (sporadic)" "28y" "disease stage: 2; best corrected visual acuity right/left eye: 1.22/0.04; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone, CNV scar (OD)" "19y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301760" "01680" "00409644" "00000" "Isolated (sporadic)" "35y" "disease stage: 3; best corrected visual acuity right/left eye: 0.4/0.22; optical coherence tomography: drusen-like deposits, LOE, interruption of the ellipsoid zone, ORT, intraretinal cysts" "28y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301761" "01680" "00409645" "00000" "Isolated (sporadic)" "16y" "disease stage: 2; best corrected visual acuity right/left eye: 0.52/0.3; optical coherence tomography: drusen-like deposits, LOE, interruption of the ellipsoid zone" "13y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301762" "01680" "00409646" "00000" "Isolated (sporadic)" "21y" "disease stage: 2; best corrected visual acuity right/left eye: 1.3/2; optical coherence tomography: drusen-like deposits, macular CNV (OU)" "16y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301763" "01680" "00409647" "00000" "Isolated (sporadic)" "57y" "disease stage: 3; best corrected visual acuity right/left eye: 2/1.7; optical coherence tomography: NA" "45y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301764" "01680" "00409648" "00000" "Isolated (sporadic)" "26y" "disease stage: 1; best corrected visual acuity right/left eye: 0.22/0.22; optical coherence tomography: NA" "" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301765" "01680" "00409649" "00000" "Familial, autosomal recessive" "53y" "disease stage: 3; best corrected visual acuity right/left eye: 2/2; optical coherence tomography: NA" "30y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301766" "01680" "00409650" "00000" "Isolated (sporadic)" "25y" "disease stage: 2; best corrected visual acuity right/left eye: 0.7/0.7; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone, ORT" "21y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301767" "01680" "00409651" "00000" "Isolated (sporadic)" "38y" "disease stage: 2/3; best corrected visual acuity right/left eye: 0.52/0.22; optical coherence tomography: NA" "6y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301768" "01680" "00409652" "00000" "Familial, autosomal recessive" "40y" "disease stage: 3; best corrected visual acuity right/left eye: 2/1; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone, CNV scar (OD)" "35y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301769" "01680" "00409653" "00000" "Familial, autosomal recessive" "34y" "disease stage: 2; best corrected visual acuity right/left eye: 0.04/0.7; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone" "21y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301770" "01680" "00409654" "00000" "Familial, autosomal recessive" "42y" "disease stage: 3; best corrected visual acuity right/left eye: 1/1; optical coherence tomography: NA" "35y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301771" "01680" "00409655" "00000" "Familial, autosomal recessive" "46y" "disease stage: 3; best corrected visual acuity right/left eye: 1/1; optical coherence tomography: NA" "28y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301772" "01680" "00409656" "00000" "Isolated (sporadic)" "62y" "disease stage: 3; best corrected visual acuity right/left eye: 4/4; optical coherence tomography: NA" "31y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301773" "01680" "00409657" "00000" "Familial, autosomal recessive" "48y" "disease stage: 3; best corrected visual acuity right/left eye: 0.3/1.22; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone, ORT" "38y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301774" "01680" "00409658" "00000" "Familial, autosomal recessive" "40y" "disease stage: 3; best corrected visual acuity right/left eye: 3/4; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone" "29y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301775" "01680" "00409659" "00000" "Isolated (sporadic)" "49y" "disease stage: 2/3; best corrected visual acuity right/left eye: 0.7/0.7; optical coherence tomography: NA" "30y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301776" "01680" "00409660" "00000" "Isolated (sporadic)" "23y" "disease stage: 3; best corrected visual acuity right/left eye: 3/3; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone" "13y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301777" "01680" "00409661" "00000" "Familial, autosomal recessive" "39y" "disease stage: 2; best corrected visual acuity right/left eye: 1/1.3; optical coherence tomography: NA" "31y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301778" "01680" "00409662" "00000" "Isolated (sporadic)" "27y" "disease stage: 3; best corrected visual acuity right/left eye: 2/2; optical coherence tomography: NA" "22y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301779" "01680" "00409663" "00000" "Isolated (sporadic)" "60y" "disease stage: 3; best corrected visual acuity right/left eye: 5/5; optical coherence tomography: NA" "37y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301780" "01680" "00409664" "00000" "Isolated (sporadic)" "21y" "disease stage: 2/3; best corrected visual acuity right/left eye: 0/0.22; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone" "13y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301781" "01680" "00409665" "00000" "Isolated (sporadic)" "27y" "disease stage: 2/3; best corrected visual acuity right/left eye: 0.3/0.15; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone, ORT" "25y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301782" "01680" "00409666" "00000" "Familial, autosomal recessive" "30y" "disease stage: 2; best corrected visual acuity right/left eye: 0.3/0.22; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone" "16y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301783" "01680" "00409667" "00000" "Isolated (sporadic)" "37y" "disease stage: 2/3; best corrected visual acuity right/left eye: 0.7/1; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone, ORT" "33y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301784" "01680" "00409668" "00000" "Familial, autosomal recessive" "65y" "disease stage: 3; best corrected visual acuity right/left eye: 1.7/1.7; optical coherence tomography: NA" "26y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301785" "01680" "00409669" "00000" "Isolated (sporadic)" "40y" "disease stage: 2; best corrected visual acuity right/left eye: 0.3/0.3; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone, ORT" "35y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301786" "01680" "00409670" "00000" "Familial, autosomal recessive" "39y" "disease stage: 3; best corrected visual acuity right/left eye: 3/3; optical coherence tomography: not available" "27y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301787" "01680" "00409671" "00000" "Familial, autosomal recessive" "68y" "disease stage: 3; best corrected visual acuity right/left eye: 2/2; optical coherence tomography: not available" "51y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301788" "01680" "00409672" "00000" "Isolated (sporadic)" "30y" "disease stage: 2/3; best corrected visual acuity right/left eye: 1.15/2; optical coherence tomography: NA" "24y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301789" "01680" "00409673" "00000" "Isolated (sporadic)" "49y" "disease stage: 3; best corrected visual acuity right/left eye: 0.7/1.52; optical coherence tomography: NA" "36y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301790" "01680" "00409674" "00000" "Isolated (sporadic)" "36y" "disease stage: 2/3; best corrected visual acuity right/left eye: 2/1.7; optical coherence tomography: drusen-like deposits" "31y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301791" "01680" "00409675" "00000" "Isolated (sporadic)" "34y" "disease stage: 3; best corrected visual acuity right/left eye: 0.52/0.3; optical coherence tomography: drusen-like deposits" "28y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301792" "01680" "00409676" "00000" "Familial, autosomal recessive" "36y" "disease stage: 3; best corrected visual acuity right/left eye: 1.3/1.52; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone, ORT" "27y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301793" "01680" "00409677" "00000" "Isolated (sporadic)" "30y" "disease stage: 2; best corrected visual acuity right/left eye: 1.3/0.7; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone, ORT" "30y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301794" "01680" "00409678" "00000" "Isolated (sporadic)" "50y" "disease stage: 3; best corrected visual acuity right/left eye: 1.7/1.7; optical coherence tomography: NA" "37y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301795" "01680" "00409679" "00000" "Isolated (sporadic)" "34y" "disease stage: 2/3; best corrected visual acuity right/left eye: 0.04/1.4; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone, ORT" "24y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301796" "01680" "00409680" "00000" "Isolated (sporadic)" "75y" "disease stage: 2/3; best corrected visual acuity right/left eye: 0.7/1.52; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone, ORT" "58y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301797" "01680" "00409681" "00000" "Familial, autosomal recessive" "62y" "disease stage: 2/3; best corrected visual acuity right/left eye: 0.52/0.3; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone, ORT" "42y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301798" "01680" "00409682" "00000" "Familial, autosomal recessive" "53y" "disease stage: 3; best corrected visual acuity right/left eye: 1.22/1; optical coherence tomography: NA" "34y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301799" "01680" "00409683" "00000" "Isolated (sporadic)" "40y" "disease stage: 3; best corrected visual acuity right/left eye: 2/3; optical coherence tomography: NA" "30y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301800" "01680" "00409684" "00000" "Isolated (sporadic)" "49y" "disease stage: 2; best corrected visual acuity right/left eye: 0.83/1; optical coherence tomography: NA" "29y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301801" "01680" "00409685" "00000" "Isolated (sporadic)" "32y" "disease stage: 2; best corrected visual acuity right/left eye: 0.52/0.4; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone, ORT" "10y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301802" "01680" "00409686" "00000" "Isolated (sporadic)" "50y" "disease stage: 2/3; best corrected visual acuity right/left eye: 2/2; optical coherence tomography: NA" "38y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301803" "01680" "00409687" "00000" "Isolated (sporadic)" "53y" "disease stage: 3; best corrected visual acuity right/left eye: 1/1; optical coherence tomography: NA" "18y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301804" "01680" "00409688" "00000" "Isolated (sporadic)" "55y" "disease stage: 3; best corrected visual acuity right/left eye: 0.7/1; optical coherence tomography: loss of the interdigitation zone, interruption of the ellipsoid zone" "42y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301805" "01680" "00409689" "00000" "Isolated (sporadic)" "39y" "disease stage: 3; best corrected visual acuity right/left eye: 1.15/1.3; optical coherence tomography: NA" "27y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301806" "01680" "00409690" "00000" "Isolated (sporadic)" "47y" "disease stage: 3; best corrected visual acuity right/left eye: 3/3; optical coherence tomography: not available" "40y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000301807" "01680" "00409691" "00000" "Isolated (sporadic)" "40y" "disease stage: 2; best corrected visual acuity right/left eye: 1/0.52; optical coherence tomography: drusen-like deposits, loss of the interdigitation zone, interruption of the ellipsoid zone, ORT" "32y" "" "" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000303644" "04214" "00411617" "00000" "Familial, autosomal recessive" "68y" "night blindness, sensitivity to bright light, visual field loss, loss of visual acuity" "" "12y" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000306212" "00198" "00414377" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Dystrophy" "" "" "0000311649" "04214" "00420401" "00000" "Familial, autosomal recessive" "43y7m" "" "43y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystro" "" "" "0000311659" "04214" "00420411" "00000" "Familial, autosomal recessive" "55y11m" "" "10y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystro" "" "" "0000311673" "04214" "00420425" "00000" "Familial, autosomal recessive" "51y6m" "" "50y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystro" "" "" "0000311690" "04214" "00420442" "00000" "Familial, autosomal recessive" "50y2m" "" "45y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystro" "" "" "0000311703" "04214" "00420455" "00000" "Familial, autosomal recessive" "39y4m" "" "30y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystro" "" "" "0000311717" "04214" "00420469" "00000" "Familial, autosomal recessive" "68y7m" "" "45y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystro" "" "" "0000311734" "04214" "00420486" "00000" "Familial, autosomal recessive" "36y7m" "" "36y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystro" "" "" "0000311755" "04214" "00420507" "00000" "Familial, autosomal recessive" "36y10m" "" "33y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystro" "" "" "0000311778" "04214" "00420530" "00000" "Familial, autosomal recessive" "80y1m" "" "40y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystro" "" "" "0000311789" "04214" "00420541" "00000" "Familial, autosomal recessive" "67y8m" "" "57y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystro" "" "" "0000311835" "04214" "00420587" "00000" "Familial, autosomal recessive" "39y11m" "" "21y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystro" "" "" "0000311840" "04214" "00420592" "00000" "Familial, autosomal recessive" "39y5m" "" "33y" "" "" "" "" "" "" "" "Bietti\'s crystalline dystro" "" "" "0000336398" "00198" "00447199" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" "0000336585" "00198" "00447386" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 680 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000041" "00000041" "1" "00004" "" "2012-05-11 13:18:46" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000101" "00000101" "1" "00004" "" "2012-05-11 13:19:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000001619" "00001816" "1" "00102" "00102" "2013-08-08 22:57:00" "" "" "SEQ-NG-I" "DNA" "" "" "0000001620" "00001817" "1" "00102" "00102" "2013-08-08 23:01:40" "" "" "SEQ-NG-I" "DNA" "" "" "0000001621" "00001818" "1" "00102" "00102" "2013-08-08 23:03:47" "" "" "SEQ-NG-I" "DNA" "" "" "0000001625" "00001822" "1" "00102" "00102" "2013-08-08 23:17:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000081248" "00081136" "1" "01769" "01769" "2016-09-20 19:43:38" "" "" "SEQ" "DNA" "wbc" "" "0000081249" "00081137" "1" "01769" "01769" "2016-09-20 20:27:52" "" "" "SEQ" "DNA" "wbc" "" "0000081250" "00081138" "1" "01769" "01769" "2016-09-20 20:37:32" "" "" "SEQ" "DNA" "wbc" "" "0000081251" "00081139" "1" "01769" "01769" "2016-09-20 20:46:11" "" "" "SEQ" "DNA" "wbc" "" "0000081253" "00081141" "1" "01769" "01769" "2016-09-20 21:43:24" "" "" "SEQ" "DNA" "wbc" "" "0000081255" "00081143" "1" "01769" "01769" "2016-09-20 22:05:19" "" "" "SEQ" "DNA" "wbc" "" "0000081257" "00081145" "1" "01769" "01769" "2016-09-20 22:22:15" "" "" "SEQ" "DNA" "wbc" "" "0000081259" "00081147" "1" "01769" "01769" "2016-09-20 22:28:04" "" "" "SEQ" "DNA" "wbc" "" "0000081261" "00081149" "1" "01769" "01769" "2016-09-20 22:39:59" "00006" "2017-01-27 11:18:45" "SEQ" "DNA" "wbc" "" "0000081262" "00081150" "1" "01769" "01769" "2016-09-20 22:44:31" "" "" "SEQ" "DNA" "wbc" "" "0000081263" "00081151" "1" "01769" "01769" "2016-09-20 22:47:29" "" "" "SEQ" "DNA" "wbc" "" "0000081265" "00081153" "1" "01769" "01769" "2016-09-20 22:53:31" "" "" "SEQ" "DNA" "wbc" "" "0000081266" "00081154" "1" "01769" "01769" "2016-09-20 22:57:18" "" "" "SEQ" "DNA" "wbc" "" "0000081268" "00081156" "1" "01769" "01769" "2016-09-21 16:46:08" "" "" "SEQ" "DNA" "wbc" "" "0000081269" "00081157" "1" "01769" "01769" "2016-09-21 16:57:54" "" "" "SEQ" "DNA" "wbc" "" "0000081270" "00081158" "1" "01769" "01769" "2016-09-21 17:02:19" "" "" "SEQ" "DNA" "" "" "0000081272" "00081160" "1" "01769" "01769" "2016-09-21 17:16:52" "" "" "SEQ" "DNA" "wbc" "" "0000081273" "00081161" "1" "01769" "01769" "2016-09-21 17:20:18" "" "" "SEQ" "DNA" "wbc" "" "0000081275" "00081163" "1" "01769" "01769" "2016-09-21 19:24:41" "" "" "SEQ" "DNA" "wbc" "" "0000081276" "00081164" "1" "01769" "01769" "2016-09-21 19:43:57" "" "" "SEQ" "DNA" "wbc" "" "0000081277" "00081165" "1" "01769" "01769" "2016-09-21 19:48:40" "" "" "SEQ" "DNA" "wbc" "" "0000081278" "00081166" "1" "01769" "01769" "2016-09-21 19:54:59" "" "" "SEQ" "DNA" "" "" "0000081279" "00081167" "1" "01769" "01769" "2016-09-21 19:58:52" "" "" "SEQ" "DNA" "wbc" "" "0000081280" "00081168" "1" "01769" "01769" "2016-09-21 20:02:27" "" "" "SBE" "DNA" "wbc" "" "0000081281" "00081169" "1" "01769" "01769" "2016-09-21 21:35:08" "" "" "SEQ" "DNA" "wbc" "" "0000081282" "00081170" "1" "01769" "01769" "2016-09-21 21:38:47" "" "" "SEQ" "DNA" "wbc" "" "0000081283" "00081171" "1" "01769" "01769" "2016-09-21 21:42:53" "" "" "SEQ" "DNA" "wbc" "" "0000081285" "00081173" "1" "01769" "01769" "2016-09-21 21:51:50" "" "" "SEQ" "DNA" "wbc" "" "0000081287" "00081175" "1" "01769" "01769" "2016-09-21 21:58:01" "" "" "SEQ" "DNA" "wbc" "" "0000081288" "00081176" "1" "01769" "01769" "2016-09-21 22:01:06" "" "" "SEQ" "DNA" "wbc" "" "0000081289" "00081177" "1" "01769" "01769" "2016-09-21 22:03:40" "" "" "SEQ" "DNA" "wbc" "" "0000081290" "00081178" "1" "01769" "01769" "2016-09-21 22:06:47" "" "" "SEQ" "DNA" "wbc" "" "0000081291" "00081179" "1" "01769" "01769" "2016-09-21 22:09:41" "" "" "SEQ" "DNA" "wbc" "" "0000081292" "00081180" "1" "01769" "01769" "2016-09-21 22:13:48" "" "" "SEQ" "DNA" "wbc" "" "0000081293" "00081181" "1" "01769" "01769" "2016-09-21 22:25:12" "" "" "SEQ" "DNA" "wbc" "" "0000081294" "00081182" "1" "01769" "01769" "2016-09-21 22:27:47" "" "" "SEQ" "DNA" "wbc" "" "0000081295" "00081183" "1" "01769" "01769" "2016-09-21 22:30:22" "" "" "SEQ" "DNA" "wbc" "" "0000081297" "00081185" "1" "01769" "01769" "2016-09-21 22:34:54" "" "" "SEQ" "DNA" "wbc" "" "0000081299" "00081187" "1" "01769" "01769" "2016-09-21 22:39:26" "" "" "SEQ" "DNA" "wbc" "" "0000081301" "00081189" "1" "01769" "01769" "2016-09-21 22:44:48" "" "" "SEQ" "DNA" "wbc" "" "0000081303" "00081191" "1" "01769" "01769" "2016-09-21 22:49:48" "" "" "SEQ" "DNA" "wbc" "" "0000081305" "00081193" "1" "01769" "01769" "2016-09-21 22:55:03" "" "" "SEQ" "DNA" "wbc" "" "0000081307" "00081195" "1" "01769" "01769" "2016-09-21 23:00:33" "" "" "SEQ" "DNA" "wbc" "" "0000081309" "00081197" "1" "01769" "01769" "2016-09-21 23:05:41" "" "" "SEQ" "DNA" "wbc" "" "0000081311" "00081199" "1" "01769" "01769" "2016-09-21 23:10:58" "" "" "SEQ" "DNA" "wbc" "" "0000081312" "00081200" "1" "01769" "01769" "2016-09-21 23:15:38" "" "" "SEQ" "DNA" "wbc" "" "0000081313" "00081201" "1" "01769" "01769" "2016-09-21 23:17:47" "" "" "SEQ" "DNA" "wbc" "" "0000081315" "00081203" "1" "01769" "01769" "2016-09-21 23:28:55" "" "" "SEQ" "DNA" "wbc" "" "0000081317" "00081205" "1" "01769" "01769" "2016-09-21 23:34:52" "" "" "SEQ" "DNA" "wbc" "" "0000081319" "00081207" "1" "01769" "01769" "2016-09-21 23:39:14" "" "" "SEQ" "DNA" "wbc" "" "0000081320" "00081208" "1" "01769" "01769" "2016-09-21 23:41:12" "" "" "SEQ" "DNA" "wbc" "" "0000081321" "00081209" "1" "01769" "01769" "2016-09-21 23:43:19" "" "" "SEQ" "DNA" "wbc" "" "0000081322" "00081210" "1" "01769" "01769" "2016-09-21 23:45:48" "" "" "SEQ" "DNA" "wbc" "" "0000081323" "00081211" "1" "01769" "01769" "2016-09-21 23:48:25" "" "" "SEQ" "DNA" "wbc" "" "0000081326" "00081214" "1" "01769" "01769" "2016-09-22 14:37:35" "" "" "SEQ" "DNA" "wbc" "" "0000081327" "00081215" "1" "01769" "01769" "2016-09-22 14:42:23" "" "" "SEQ" "DNA" "wbc" "" "0000081329" "00081217" "1" "01769" "01769" "2016-09-22 14:58:05" "" "" "SEQ" "DNA" "wbc" "" "0000081331" "00081219" "1" "01769" "01769" "2016-09-22 15:03:06" "" "" "SEQ" "DNA" "wbc" "" "0000089214" "00089069" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "SEQ" "DNA" "" "" "0000089215" "00089070" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000089216" "00089071" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "SEQ" "DNA" "" "" "0000089217" "00089072" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "SEQ" "DNA" "" "" "0000089218" "00089073" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "SEQ" "DNA" "" "" "0000089219" "00089074" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "SEQ" "DNA" "" "" "0000089220" "00089075" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "SEQ" "DNA" "" "" "0000089221" "00089076" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "SEQ" "DNA" "" "" "0000089222" "00089077" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "SEQ" "DNA" "" "" "0000089223" "00089078" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "SEQ" "DNA" "" "" "0000089224" "00089079" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "SEQ" "DNA" "" "" "0000089225" "00089080" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "SEQ" "DNA" "" "" "0000089226" "00089081" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "SEQ" "DNA" "" "" "0000089227" "00089082" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "SEQ" "DNA" "" "" "0000089228" "00089083" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "SEQ" "DNA" "" "" "0000089229" "00089084" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "SEQ" "DNA" "" "" "0000089230" "00089085" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "SEQ" "DNA" "" "" "0000089231" "00089086" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "SEQ" "DNA" "" "" "0000089232" "00089087" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "SEQ" "DNA" "" "" "0000089233" "00089088" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "SEQ" "DNA" "" "" "0000089234" "00089089" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "SEQ" "DNA" "" "" "0000089235" "00089090" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "SEQ" "DNA" "" "" "0000089236" "00089091" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "SEQ" "DNA" "" "" "0000089237" "00089092" "1" "00006" "00006" "2016-11-29 08:37:18" "" "" "SEQ" "DNA" "" "" "0000156324" "00155459" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000233707" "00232608" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233708" "00232609" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233709" "00232610" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233710" "00232611" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233711" "00232612" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233712" "00232613" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233713" "00232614" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233714" "00232615" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233715" "00232616" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233716" "00232617" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233717" "00232618" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234778" "00233679" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234779" "00233680" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000294773" "00293605" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294774" "00293606" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294775" "00293607" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294776" "00293608" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294777" "00293609" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000310274" "00309129" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310275" "00309130" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000329234" "00328019" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000332488" "00331268" "1" "00000" "00006" "2021-02-11 10:36:53" "" "" "SEQ;SEQ-NG" "DNA" "" "39-gene panel" "0000332489" "00331269" "1" "00000" "00006" "2021-02-11 10:36:53" "" "" "SEQ;SEQ-NG" "DNA" "" "39-gene panel" "0000334582" "00333357" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000335687" "00334458" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000335688" "00334459" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000335689" "00334460" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000336612" "00335383" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel" "0000336617" "00335388" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel" "0000336618" "00335389" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel" "0000336621" "00335392" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel" "0000336624" "00335395" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel" "0000336638" "00335409" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel" "0000363458" "00362229" "1" "04043" "00006" "2021-04-16 13:26:31" "" "" "SEQ-NG" "DNA" "" "" "0000364143" "00362915" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000365095" "00363867" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000365096" "00363868" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000374727" "00373492" "1" "00000" "00006" "2021-05-14 19:24:06" "" "" "SEQ-NG" "DNA" "" "316-gene panel" "0000374728" "00373493" "1" "00000" "00006" "2021-05-14 19:24:06" "" "" "SEQ-NG" "DNA" "" "316-gene panel" "0000374733" "00373498" "1" "00000" "00006" "2021-05-14 19:24:06" "" "" "SEQ-NG" "DNA" "" "316-gene panel" "0000374737" "00373502" "1" "00000" "00006" "2021-05-14 19:24:06" "" "" "SEQ-NG" "DNA" "" "316-gene panel" "0000374738" "00373503" "1" "00000" "00006" "2021-05-14 19:24:06" "" "" "SEQ-NG" "DNA" "" "316-gene panel" "0000374739" "00373504" "1" "00000" "00006" "2021-05-14 19:24:06" "" "" "SEQ-NG" "DNA" "" "316-gene panel" "0000375142" "00373910" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000376096" "00374902" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376098" "00374904" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376121" "00374927" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376127" "00374933" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376133" "00374939" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376160" "00374966" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376161" "00374967" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376162" "00374968" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376607" "00375410" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376614" "00375417" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376632" "00375435" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000380872" "00379672" "1" "03508" "03508" "2021-08-06 09:03:12" "" "" "SEQ-NG-I" "DNA" "" "" "0000380985" "00379782" "1" "03508" "03508" "2021-08-09 10:25:18" "" "" "SEQ-NG-I" "DNA" "" "" "0000381030" "00379828" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "exome sequencing" "0000381031" "00379829" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "exome sequencing" "0000381032" "00379830" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "panel of 441 hereditary eye disease genes including 291 genes related to IRD" "0000381033" "00379831" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "panel of 441 hereditary eye disease genes including 291 genes related to IRD" "0000381034" "00379832" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "panel of 441 hereditary eye disease genes including 291 genes related to IRD" "0000381035" "00379833" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "panel of 441 hereditary eye disease genes including 291 genes related to IRD" "0000381036" "00379834" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "panel of 441 hereditary eye disease genes including 291 genes related to IRD" "0000382237" "00381023" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "arraySEQ;SEQ;PCR" "DNA" "blood" "" "0000382278" "00381064" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ-NG" "DNA" "blood" "" "0000382279" "00381065" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ-NG" "DNA" "blood" "" "0000382293" "00381079" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ-NG" "DNA" "blood" "" "0000382939" "00381723" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000382940" "00381724" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000382941" "00381725" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000382945" "00381729" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000385039" "00383814" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" "" "0000385490" "00384265" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385494" "00384269" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385581" "00384356" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385583" "00384358" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385606" "00384381" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385671" "00384446" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385697" "00384472" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000386620" "00385391" "1" "00000" "03840" "2021-10-10 19:46:50" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000386621" "00385392" "1" "00000" "03840" "2021-10-10 19:46:50" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000386623" "00385394" "1" "00000" "03840" "2021-10-10 19:46:50" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000386637" "00385408" "1" "00000" "03840" "2021-10-10 19:46:50" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000386638" "00385409" "1" "00000" "03840" "2021-10-10 19:46:50" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000386931" "00385703" "1" "00000" "03840" "2021-10-14 15:38:02" "" "" "SEQ-NG" "DNA" "blood" "Panel 3 containing 78 genes" "0000386939" "00385711" "1" "00000" "03840" "2021-10-14 15:38:02" "" "" "SEQ-NG" "DNA" "blood" "Panel 2 containing 316 genes" "0000386944" "00385716" "1" "00000" "03840" "2021-10-14 15:38:02" "" "" "SEQ-NG" "DNA" "blood" "Panel 2 containing 316 genes" "0000386945" "00385717" "1" "00000" "03840" "2021-10-14 15:38:02" "" "" "SEQ-NG" "DNA" "blood" "Whole exome sequencing" "0000386954" "00385726" "1" "00000" "03840" "2021-10-14 15:38:02" "" "" "SEQ-NG" "DNA" "blood" "Whole exome sequencing" "0000388615" "00387389" "1" "00000" "03840" "2021-10-29 09:42:54" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000388846" "00387620" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000389753" "00388512" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "CNV gene panel next-generation sequencing" "0000390521" "00389278" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390522" "00389279" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390624" "00389381" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390627" "00389384" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000391491" "00390250" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000392222" "00390981" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000393836" "00392589" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000393900" "00392653" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000394695" "00393447" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394697" "00393449" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394702" "00393454" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394704" "00393456" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394705" "00393457" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394706" "00393458" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394721" "00393473" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394751" "00393503" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000394752" "00393504" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000394756" "00393508" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394758" "00393510" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394761" "00393513" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394763" "00393515" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394770" "00393522" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394771" "00393523" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394773" "00393525" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394777" "00393529" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394778" "00393530" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394779" "00393531" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394781" "00393533" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394783" "00393535" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394785" "00393537" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394786" "00393538" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394794" "00393546" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG;MLPA" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394795" "00393547" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394799" "00393551" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394800" "00393552" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394801" "00393553" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394803" "00393555" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394804" "00393556" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394807" "00393559" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394809" "00393561" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394813" "00393565" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394820" "00393572" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394823" "00393575" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394825" "00393577" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394834" "00393586" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394837" "00393589" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394839" "00393591" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394852" "00393604" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394858" "00393610" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394863" "00393615" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394864" "00393616" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394881" "00393633" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394886" "00393638" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394904" "00393656" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394906" "00393658" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394914" "00393666" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394918" "00393670" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394935" "00393687" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394936" "00393688" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394949" "00393701" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394955" "00393707" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394961" "00393713" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394971" "00393723" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394980" "00393732" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394984" "00393736" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395015" "00393767" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395016" "00393768" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395021" "00393773" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395039" "00393791" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395043" "00393795" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395047" "00393799" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395048" "00393800" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395049" "00393801" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395054" "00393806" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395056" "00393808" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395057" "00393809" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395064" "00393816" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395066" "00393818" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395067" "00393819" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395068" "00393820" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395075" "00393827" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395076" "00393828" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395077" "00393829" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395080" "00393832" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395082" "00393834" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395091" "00393843" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395094" "00393846" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395095" "00393847" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395096" "00393848" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395098" "00393850" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395099" "00393851" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395100" "00393852" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395103" "00393855" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395105" "00393857" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395106" "00393858" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395107" "00393859" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395108" "00393860" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395109" "00393861" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395111" "00393863" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395112" "00393864" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395116" "00393868" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395122" "00393874" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395128" "00393880" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395131" "00393883" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395135" "00393887" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395141" "00393893" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395151" "00393903" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395152" "00393904" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395164" "00393916" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395165" "00393917" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395168" "00393920" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000396045" "00394798" "1" "00000" "03840" "2021-12-02 12:05:39" "" "" "SEQ-NG" "DNA" "" "" "0000396055" "00394808" "1" "00000" "03840" "2021-12-02 12:05:39" "" "" "SEQ-NG" "DNA" "" "" "0000396058" "00394811" "1" "00000" "03840" "2021-12-02 12:05:39" "" "" "SEQ-NG" "DNA" "" "" "0000396059" "00394812" "1" "00000" "03840" "2021-12-02 12:05:39" "" "" "SEQ-NG" "DNA" "" "" "0000396060" "00394813" "1" "00000" "03840" "2021-12-02 12:05:39" "" "" "SEQ-NG" "DNA" "" "" "0000396666" "00395428" "1" "00000" "03840" "2021-12-06 14:47:57" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000396993" "00395754" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000396994" "00395755" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000396995" "00395756" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000396996" "00395757" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000396999" "00395760" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397007" "00395768" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397034" "00395795" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397080" "00395841" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397085" "00395846" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397114" "00395875" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397161" "00395922" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397187" "00395948" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000410567" "00409303" "1" "00000" "03840" "2022-05-06 13:27:51" "" "" "SEQ" "DNA" "" "" "0000410568" "00409304" "1" "00000" "03840" "2022-05-06 13:27:51" "" "" "SEQ" "DNA" "" "" "0000410569" "00409305" "1" "00000" "03840" "2022-05-06 13:27:51" "" "" "SEQ" "DNA" "" "" "0000410570" "00409306" "1" "00000" "03840" "2022-05-06 13:27:51" "" "" "SEQ" "DNA" "" "" "0000410571" "00409307" "1" "00000" "03840" "2022-05-06 13:27:51" "" "" "SEQ" "DNA" "" "" "0000410572" "00409308" "1" "00000" "03840" "2022-05-06 13:27:51" "" "" "SEQ" "DNA" "" "" "0000410573" "00409309" "1" "00000" "03840" "2022-05-06 13:27:51" "" "" "SEQ" "DNA" "" "" "0000410574" "00409310" "1" "00000" "03840" "2022-05-06 13:27:51" "" "" "SEQ" "DNA" "" "" "0000410575" "00409311" "1" "00000" "03840" "2022-05-06 13:27:51" "" "" "SEQ" "DNA" "" "" "0000410576" "00409312" "1" "00000" "03840" "2022-05-06 13:27:51" "" "" "SEQ" "DNA" "" "" "0000410577" "00409313" "1" "00000" "03840" "2022-05-06 13:27:51" "" "" "SEQ" "DNA" "" "" "0000410580" "00409316" "1" "00000" "03840" "2022-05-06 15:08:22" "" "" "SEQ" "DNA" "" "" "0000410581" "00409317" "1" "00000" "03840" "2022-05-06 15:08:22" "" "" "SEQ" "DNA" "" "" "0000410582" "00409318" "1" "00000" "03840" "2022-05-06 15:08:22" "" "" "SEQ" "DNA" "" "" "0000410583" "00409319" "1" "00000" "03840" "2022-05-06 15:08:22" "" "" "SEQ" "DNA" "" "" "0000410584" "00409320" "1" "00000" "03840" "2022-05-06 15:08:22" "" "" "SEQ" "DNA" "" "" "0000410585" "00409321" "1" "00000" "03840" "2022-05-06 15:08:22" "" "" "SEQ" "DNA" "" "" "0000410586" "00409322" "1" "00000" "03840" "2022-05-06 15:08:22" "" "" "SEQ" "DNA" "" "" "0000410587" "00409323" "1" "00000" "03840" "2022-05-06 15:08:22" "" "" "SEQ" "DNA" "" "" "0000410588" "00409324" "1" "00000" "03840" "2022-05-06 15:08:22" "" "" "SEQ" "DNA" "" "" "0000410589" "00409325" "1" "00000" "03840" "2022-05-06 15:08:22" "" "" "SEQ" "DNA" "" "" "0000410590" "00409326" "1" "00000" "03840" "2022-05-06 15:08:22" "" "" "SEQ" "DNA" "" "" "0000410591" "00409327" "1" "00000" "03840" "2022-05-06 15:08:22" "" "" "SEQ" "DNA" "" "" "0000410592" "00409328" "1" "00000" "03840" "2022-05-06 15:08:22" "" "" "SEQ" "DNA" "" "" "0000410593" "00409329" "1" "00000" "03840" "2022-05-06 15:08:22" "" "" "SEQ" "DNA" "" "" "0000410594" "00409330" "1" "00000" "03840" "2022-05-06 15:08:22" "" "" "SEQ" "DNA" "" "" "0000410595" "00409331" "1" "00000" "03840" "2022-05-06 15:08:22" "" "" "SEQ" "DNA" "" "" "0000410596" "00409332" "1" "00000" "03840" "2022-05-06 15:08:22" "" "" "SEQ" "DNA" "" "" "0000410597" "00409333" "1" "00000" "03840" "2022-05-06 15:08:22" "" "" "SEQ" "DNA" "" "" "0000410598" "00409334" "1" "00000" "03840" "2022-05-06 15:08:22" "" "" "SEQ" "DNA" "" "" "0000410599" "00409335" "1" "00000" "03840" "2022-05-06 15:08:22" "" "" "SEQ" "DNA" "" "" "0000410600" "00409336" "1" "00000" "03840" "2022-05-06 15:08:22" "" "" "SEQ" "DNA" "" "" "0000410601" "00409337" "1" "00000" "03840" "2022-05-06 15:08:22" "" "" "SEQ" "DNA" "" "" "0000410602" "00409338" "1" "00000" "03840" "2022-05-06 15:08:22" "" "" "SEQ" "DNA" "" "" "0000410605" "00409341" "1" "00000" "03840" "2022-05-06 20:08:31" "" "" "SEQ" "DNA" "" "" "0000410606" "00409342" "1" "00000" "03840" "2022-05-06 20:08:31" "" "" "SEQ" "DNA" "" "" "0000410607" "00409343" "1" "00000" "03840" "2022-05-06 20:08:31" "" "" "SEQ" "DNA" "" "" "0000410608" "00409344" "1" "00000" "03840" "2022-05-06 20:08:31" "" "" "SEQ" "DNA" "" "" "0000410609" "00409345" "1" "00000" "03840" "2022-05-06 20:08:31" "" "" "SEQ" "DNA" "" "" "0000410610" "00409346" "1" "00000" "03840" "2022-05-06 20:08:31" "" "" "SEQ" "DNA" "" "" "0000410611" "00409347" "1" "00000" "03840" "2022-05-06 20:08:31" "" "" "SEQ" "DNA" "" "" "0000410612" "00409348" "1" "00000" "03840" "2022-05-06 20:08:31" "" "" "SEQ" "DNA" "" "" "0000410613" "00409349" "1" "00000" "03840" "2022-05-06 20:08:31" "" "" "SEQ" "DNA" "" "" "0000410614" "00409350" "1" "00000" "03840" "2022-05-06 20:08:31" "" "" "SEQ" "DNA" "" "" "0000410615" "00409351" "1" "00000" "03840" "2022-05-06 20:08:31" "" "" "SEQ" "DNA" "" "" "0000410616" "00409352" "1" "00000" "03840" "2022-05-06 20:08:31" "" "" "SEQ" "DNA" "" "" "0000410617" "00409353" "1" "00000" "03840" "2022-05-06 20:08:31" "" "" "SEQ" "DNA" "" "" "0000410618" "00409354" "1" "00000" "03840" "2022-05-06 20:08:31" "" "" "SEQ" "DNA" "" "" "0000410619" "00409355" "1" "00000" "03840" "2022-05-06 20:08:31" "" "" "SEQ" "DNA" "" "" "0000410620" "00409356" "1" "00000" "03840" "2022-05-06 20:08:31" "" "" "SEQ" "DNA" "" "" "0000410621" "00409357" "1" "00000" "03840" "2022-05-06 20:08:31" "" "" "SEQ" "DNA" "" "" "0000410622" "00409358" "1" "00000" "03840" "2022-05-06 20:08:31" "" "" "SEQ" "DNA" "" "" "0000410623" "00409359" "1" "00000" "03840" "2022-05-06 20:08:31" "" "" "SEQ" "DNA" "" "" "0000410624" "00409360" "1" "00000" "03840" "2022-05-06 20:08:31" "" "" "SEQ" "DNA" "" "" "0000410625" "00409361" "1" "00000" "03840" "2022-05-06 20:08:31" "" "" "SEQ" "DNA" "" "" "0000410631" "00409367" "1" "00000" "03840" "2022-05-07 07:36:56" "" "" "SEQ-NG" "DNA" "" "" "0000410632" "00409368" "1" "00000" "03840" "2022-05-07 11:14:53" "" "" "SEQ-NG" "DNA" "" "" "0000410633" "00409369" "1" "00000" "03840" "2022-05-07 11:14:53" "" "" "SEQ-NG" "DNA" "" "" "0000410634" "00409370" "1" "00000" "03840" "2022-05-07 11:14:53" "" "" "SEQ-NG" "DNA" "" "" "0000410635" "00409371" "1" "00000" "03840" "2022-05-07 11:14:53" "" "" "SEQ-NG" "DNA" "" "" "0000410636" "00409372" "1" "00000" "03840" "2022-05-07 21:07:18" "" "" "SEQ-NG" "DNA" "blood" "" "0000410637" "00409373" "1" "00000" "03840" "2022-05-07 21:07:18" "" "" "SEQ-NG" "DNA" "blood" "" "0000410638" "00409374" "1" "00000" "03840" "2022-05-07 21:07:18" "" "" "SEQ-NG" "DNA" "blood" "" "0000410639" "00409375" "1" "00000" "03840" "2022-05-07 21:07:18" "" "" "SEQ-NG" "DNA" "blood" "" "0000410640" "00409376" "1" "00000" "03840" "2022-05-08 14:58:33" "" "" "SEQ-NG" "DNA" "blood" "" "0000410641" "00409377" "1" "00000" "03840" "2022-05-08 14:58:33" "" "" "SEQ-NG" "DNA" "blood" "" "0000410642" "00409378" "1" "00000" "03840" "2022-05-08 14:58:33" "" "" "SEQ-NG" "DNA" "blood" "" "0000410643" "00409379" "1" "00000" "03840" "2022-05-08 14:58:33" "" "" "SEQ-NG" "DNA" "blood" "" "0000410644" "00409380" "1" "00000" "03840" "2022-05-08 14:58:33" "" "" "SEQ-NG" "DNA" "blood" "" "0000410645" "00409381" "1" "00000" "03840" "2022-05-08 14:58:33" "" "" "SEQ-NG" "DNA" "blood" "" "0000410646" "00409382" "1" "00000" "03840" "2022-05-08 14:58:33" "" "" "SEQ-NG" "DNA" "blood" "" "0000410647" "00409383" "1" "00000" "03840" "2022-05-08 14:58:33" "" "" "SEQ-NG" "DNA" "blood" "" "0000410648" "00409384" "1" "00000" "03840" "2022-05-08 14:58:33" "" "" "SEQ-NG" "DNA" "blood" "" "0000410649" "00409385" "1" "00000" "03840" "2022-05-08 14:58:33" "" "" "SEQ-NG" "DNA" "blood" "" "0000410650" "00409386" "1" "00000" "03840" "2022-05-08 15:44:56" "" "" "SEQ-NG" "DNA" "blood" "" "0000410651" "00409387" "1" "00000" "03840" "2022-05-08 15:44:56" "" "" "SEQ-NG" "DNA" "blood" "" "0000410652" "00409388" "1" "00000" "03840" "2022-05-08 15:44:56" "" "" "SEQ-NG" "DNA" "blood" "" "0000410653" "00409389" "1" "00000" "03840" "2022-05-08 15:44:56" "" "" "SEQ-NG" "DNA" "blood" "" "0000410654" "00409390" "1" "00000" "03840" "2022-05-08 15:44:56" "" "" "SEQ-NG" "DNA" "blood" "" "0000410655" "00409391" "1" "00000" "03840" "2022-05-08 15:58:07" "" "" "SEQ" "DNA" "blood" "" "0000410657" "00409393" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410658" "00409394" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410659" "00409395" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410660" "00409396" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410661" "00409397" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410662" "00409398" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410663" "00409399" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410664" "00409400" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410665" "00409401" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410666" "00409402" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410667" "00409403" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410668" "00409404" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410669" "00409405" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410670" "00409406" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410671" "00409407" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410672" "00409408" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410673" "00409409" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410674" "00409410" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410675" "00409411" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410676" "00409412" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410677" "00409413" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410678" "00409414" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410679" "00409415" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410680" "00409416" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410681" "00409417" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410682" "00409418" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410683" "00409419" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410684" "00409420" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410685" "00409421" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410686" "00409422" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410687" "00409423" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410688" "00409424" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410689" "00409425" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410690" "00409426" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410691" "00409427" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410692" "00409428" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410693" "00409429" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410694" "00409430" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410695" "00409431" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410696" "00409432" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410697" "00409433" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410698" "00409434" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410699" "00409435" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410700" "00409436" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410701" "00409437" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410702" "00409438" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410703" "00409439" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410704" "00409440" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410705" "00409441" "1" "00000" "03840" "2022-05-09 10:58:59" "" "" "SEQ" "DNA" "blood" "" "0000410706" "00409442" "1" "00000" "03840" "2022-05-09 11:29:00" "" "" "SEQ" "DNA" "blood" "" "0000410707" "00409443" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410708" "00409444" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410709" "00409445" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410710" "00409446" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410711" "00409447" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410712" "00409448" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410713" "00409449" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410714" "00409450" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410715" "00409451" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410716" "00409452" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410717" "00409453" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410718" "00409454" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410719" "00409455" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410720" "00409456" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410721" "00409457" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410722" "00409458" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410723" "00409459" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410724" "00409460" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410725" "00409461" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410726" "00409462" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410727" "00409463" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410728" "00409464" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410729" "00409465" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410730" "00409466" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410731" "00409467" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410732" "00409468" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410733" "00409469" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410734" "00409470" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410735" "00409471" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410736" "00409472" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410737" "00409473" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410738" "00409474" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410739" "00409475" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410740" "00409476" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410741" "00409477" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410742" "00409478" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410743" "00409479" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410744" "00409480" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410745" "00409481" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410746" "00409482" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410747" "00409483" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410748" "00409484" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410749" "00409485" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410750" "00409486" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410751" "00409487" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410752" "00409488" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410753" "00409489" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410754" "00409490" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410755" "00409491" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410756" "00409492" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410757" "00409493" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410758" "00409494" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410759" "00409495" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410760" "00409496" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410761" "00409497" "1" "00000" "03840" "2022-05-09 15:15:09" "" "" "SEQ" "DNA" "blood" "" "0000410762" "00409498" "1" "00000" "03840" "2022-05-09 15:31:45" "" "" "SEQ" "DNA" "blood" "" "0000410763" "00409499" "1" "00000" "03840" "2022-05-09 20:24:57" "" "" "SEQ" "DNA" "blood" "" "0000410764" "00409500" "1" "00000" "03840" "2022-05-09 20:24:57" "" "" "SEQ" "DNA" "blood" "" "0000410767" "00409503" "1" "00000" "03840" "2022-05-09 20:24:57" "" "" "SEQ" "DNA" "blood" "" "0000410771" "00409507" "1" "00000" "03840" "2022-05-09 20:24:57" "" "" "SEQ" "DNA" "blood" "" "0000410772" "00409508" "1" "00000" "03840" "2022-05-09 20:24:57" "" "" "SEQ" "DNA" "blood" "" "0000410779" "00409515" "1" "00000" "03840" "2022-05-09 20:24:57" "" "" "SEQ" "DNA" "blood" "" "0000410780" "00409516" "1" "00000" "03840" "2022-05-09 20:24:57" "" "" "SEQ" "DNA" "blood" "" "0000410781" "00409517" "1" "00000" "03840" "2022-05-09 20:24:57" "" "" "SEQ" "DNA" "blood" "" "0000410782" "00409518" "1" "00000" "03840" "2022-05-09 20:24:57" "" "" "SEQ" "DNA" "blood" "" "0000410788" "00409524" "1" "00000" "03840" "2022-05-10 09:55:10" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410798" "00409534" "1" "00000" "03840" "2022-05-10 10:08:07" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410799" "00409535" "1" "00000" "03840" "2022-05-10 10:08:07" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410800" "00409536" "1" "00000" "03840" "2022-05-10 10:08:07" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410801" "00409537" "1" "00000" "03840" "2022-05-10 10:08:07" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410802" "00409538" "1" "00000" "03840" "2022-05-10 12:05:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410803" "00409539" "1" "00000" "03840" "2022-05-10 12:05:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410804" "00409540" "1" "00000" "03840" "2022-05-10 12:05:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410805" "00409541" "1" "00000" "03840" "2022-05-10 12:05:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410806" "00409542" "1" "00000" "03840" "2022-05-10 12:05:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410807" "00409543" "1" "00000" "03840" "2022-05-10 12:05:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410808" "00409544" "1" "00000" "03840" "2022-05-10 12:05:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410809" "00409545" "1" "00000" "03840" "2022-05-10 12:05:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410810" "00409546" "1" "00000" "03840" "2022-05-10 12:05:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410811" "00409547" "1" "00000" "03840" "2022-05-10 12:05:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410812" "00409548" "1" "00000" "03840" "2022-05-10 12:05:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410813" "00409549" "1" "00000" "03840" "2022-05-10 12:05:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410814" "00409550" "1" "00000" "03840" "2022-05-10 12:05:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410815" "00409551" "1" "00000" "03840" "2022-05-10 12:05:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410816" "00409552" "1" "00000" "03840" "2022-05-10 12:05:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410817" "00409553" "1" "00000" "03840" "2022-05-10 12:05:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410818" "00409554" "1" "00000" "03840" "2022-05-10 12:05:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410819" "00409555" "1" "00000" "03840" "2022-05-10 12:05:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410820" "00409556" "1" "00000" "03840" "2022-05-10 12:05:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410821" "00409557" "1" "00000" "03840" "2022-05-10 12:05:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410822" "00409558" "1" "00000" "03840" "2022-05-10 12:05:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410823" "00409559" "1" "00000" "03840" "2022-05-10 12:05:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410824" "00409560" "1" "00000" "03840" "2022-05-10 12:55:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410825" "00409561" "1" "00000" "03840" "2022-05-10 12:55:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410826" "00409562" "1" "00000" "03840" "2022-05-10 12:55:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410827" "00409563" "1" "00000" "03840" "2022-05-10 12:55:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000410830" "00409565" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410831" "00409566" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410832" "00409567" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410833" "00409568" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410834" "00409569" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410835" "00409570" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410836" "00409571" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410837" "00409572" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410838" "00409573" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410839" "00409574" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410840" "00409575" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410841" "00409576" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410842" "00409577" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410843" "00409578" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410844" "00409579" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410845" "00409580" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410846" "00409581" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410847" "00409582" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410848" "00409583" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410849" "00409584" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410850" "00409585" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410851" "00409586" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410852" "00409587" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410853" "00409588" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410854" "00409589" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410855" "00409590" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410856" "00409591" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410857" "00409592" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410858" "00409593" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410859" "00409594" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410860" "00409595" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410861" "00409596" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410862" "00409597" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410863" "00409598" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410864" "00409599" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410865" "00409600" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410866" "00409601" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410867" "00409602" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410868" "00409603" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410869" "00409604" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410870" "00409605" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410871" "00409606" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410872" "00409607" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410873" "00409608" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410874" "00409609" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410875" "00409610" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410876" "00409611" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410877" "00409612" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410878" "00409613" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410879" "00409614" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410880" "00409615" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410881" "00409616" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410882" "00409617" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410883" "00409618" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410884" "00409619" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410885" "00409620" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410886" "00409621" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410887" "00409622" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410888" "00409623" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410889" "00409624" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410890" "00409625" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410891" "00409626" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410892" "00409627" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410893" "00409628" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410894" "00409629" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410895" "00409630" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410896" "00409631" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410897" "00409632" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410898" "00409633" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410899" "00409634" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410900" "00409635" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410901" "00409636" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410902" "00409637" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410903" "00409638" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410904" "00409639" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410905" "00409640" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410906" "00409641" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410907" "00409642" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410908" "00409643" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410909" "00409644" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410910" "00409645" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410911" "00409646" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410912" "00409647" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410913" "00409648" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410914" "00409649" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410915" "00409650" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410916" "00409651" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410917" "00409652" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410918" "00409653" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410919" "00409654" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410920" "00409655" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410921" "00409656" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410922" "00409657" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410923" "00409658" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410924" "00409659" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410925" "00409660" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410926" "00409661" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410927" "00409662" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410928" "00409663" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410929" "00409664" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410930" "00409665" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410931" "00409666" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410932" "00409667" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410933" "00409668" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" "blood" "retrospective study" "0000410934" "00409669" "1" "00000" "03840" "2022-05-10 14:45:42" "" "" "SEQ" "DNA" 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"0000410702" "CYP4V2" "0000410703" "CYP4V2" "0000410704" "CYP4V2" "0000410705" "CYP4V2" "0000410706" "CYP4V2" "0000410707" "CYP4V2" "0000410708" "CYP4V2" "0000410709" "CYP4V2" "0000410710" "CYP4V2" "0000410711" "CYP4V2" "0000410712" "CYP4V2" "0000410713" "CYP4V2" "0000410714" "CYP4V2" "0000410715" "CYP4V2" "0000410716" "CYP4V2" "0000410717" "CYP4V2" "0000410718" "CYP4V2" "0000410719" "CYP4V2" "0000410720" "CYP4V2" "0000410721" "CYP4V2" "0000410722" "CYP4V2" "0000410723" "CYP4V2" "0000410724" "CYP4V2" "0000410725" "CYP4V2" "0000410726" "CYP4V2" "0000410727" "CYP4V2" "0000410728" "CYP4V2" "0000410729" "CYP4V2" "0000410730" "CYP4V2" "0000410731" "CYP4V2" "0000410732" "CYP4V2" "0000410733" "CYP4V2" "0000410734" "CYP4V2" "0000410735" "CYP4V2" "0000410736" "CYP4V2" "0000410737" "CYP4V2" "0000410738" "CYP4V2" "0000410739" "CYP4V2" "0000410740" "CYP4V2" "0000410741" "CYP4V2" "0000410742" "CYP4V2" "0000410743" "CYP4V2" "0000410744" "CYP4V2" "0000410745" "CYP4V2" "0000410746" "CYP4V2" "0000410747" "CYP4V2" "0000410748" "CYP4V2" "0000410749" "CYP4V2" "0000410750" "CYP4V2" "0000410751" "CYP4V2" "0000410752" "CYP4V2" "0000410753" "CYP4V2" "0000410754" "CYP4V2" "0000410755" "CYP4V2" "0000410756" "CYP4V2" "0000410757" "CYP4V2" "0000410758" "CYP4V2" "0000410759" "CYP4V2" "0000410760" "CYP4V2" "0000410761" "CYP4V2" "0000410762" "CYP4V2" "0000410763" "CYP4V2" "0000410764" "CYP4V2" "0000410767" "CYP4V2" "0000410771" "CYP4V2" "0000410772" "CYP4V2" "0000410779" "CYP4V2" "0000410780" "CYP4V2" "0000410781" "CYP4V2" "0000410782" "CYP4V2" "0000410788" "CYP4V2" "0000410798" "CYP4V2" "0000410799" "CYP4V2" "0000410800" "CYP4V2" "0000410801" "CYP4V2" "0000410802" "CYP4V2" "0000410803" "CYP4V2" "0000410804" "CYP4V2" "0000410805" "CYP4V2" "0000410806" "CYP4V2" "0000410807" "CYP4V2" "0000410808" "CYP4V2" "0000410809" "CYP4V2" "0000410810" "CYP4V2" "0000410811" "CYP4V2" "0000410812" "CYP4V2" "0000410813" "CYP4V2" "0000410814" "CYP4V2" "0000410815" "CYP4V2" "0000410816" "CYP4V2" "0000410817" "CYP4V2" "0000410818" "CYP4V2" "0000410819" "CYP4V2" "0000410820" "CYP4V2" "0000410821" "CYP4V2" "0000410822" "CYP4V2" "0000410823" "CYP4V2" "0000410824" "CYP4V2" "0000410825" "CYP4V2" "0000410826" "CYP4V2" "0000410827" "CYP4V2" "0000410830" "CYP4V2" "0000410831" "CYP4V2" "0000410832" "CYP4V2" "0000410833" "CYP4V2" "0000410834" "CYP4V2" "0000410835" "CYP4V2" "0000410836" "CYP4V2" "0000410837" "CYP4V2" "0000410838" "CYP4V2" "0000410839" "CYP4V2" "0000410840" "CYP4V2" "0000410841" "CYP4V2" "0000410842" "CYP4V2" "0000410843" "CYP4V2" "0000410844" "CYP4V2" "0000410845" "CYP4V2" "0000410846" "CYP4V2" "0000410847" "CYP4V2" "0000410848" "CYP4V2" "0000410849" "CYP4V2" "0000410850" "CYP4V2" "0000410851" "CYP4V2" "0000410852" "CYP4V2" "0000410853" "CYP4V2" "0000410854" "CYP4V2" "0000410855" "CYP4V2" "0000410856" "CYP4V2" "0000410857" "CYP4V2" "0000410858" "CYP4V2" "0000410859" "CYP4V2" "0000410860" "CYP4V2" "0000410861" "CYP4V2" "0000410862" "CYP4V2" "0000410863" "CYP4V2" "0000410864" "CYP4V2" "0000410865" "CYP4V2" "0000410866" "CYP4V2" "0000410867" "CYP4V2" "0000410868" "CYP4V2" "0000410869" "CYP4V2" "0000410870" "CYP4V2" "0000410871" "CYP4V2" "0000410872" "CYP4V2" "0000410873" "CYP4V2" "0000410874" "CYP4V2" "0000410875" "CYP4V2" "0000410876" "CYP4V2" "0000410877" "CYP4V2" "0000410878" "CYP4V2" "0000410879" "CYP4V2" "0000410880" "CYP4V2" "0000410881" "CYP4V2" "0000410882" "CYP4V2" "0000410883" "CYP4V2" "0000410884" "CYP4V2" "0000410885" "CYP4V2" "0000410886" "CYP4V2" "0000410887" "CYP4V2" "0000410888" "CYP4V2" "0000410889" "CYP4V2" "0000410890" "CYP4V2" "0000410891" "CYP4V2" "0000410892" "CYP4V2" "0000410893" "CYP4V2" "0000410894" "CYP4V2" "0000410895" "CYP4V2" "0000410896" "CYP4V2" "0000410897" "CYP4V2" "0000410898" "CYP4V2" "0000410899" "CYP4V2" "0000410900" "CYP4V2" "0000410901" "CYP4V2" "0000410902" "CYP4V2" "0000410903" "CYP4V2" "0000410904" "CYP4V2" "0000410905" "CYP4V2" "0000410906" "CYP4V2" "0000410907" "CYP4V2" "0000410908" "CYP4V2" "0000410909" "CYP4V2" "0000410910" "CYP4V2" "0000410911" "CYP4V2" "0000410912" "CYP4V2" "0000410913" "CYP4V2" "0000410914" "CYP4V2" "0000410915" "CYP4V2" "0000410916" "CYP4V2" "0000410917" "CYP4V2" "0000410918" "CYP4V2" "0000410919" "CYP4V2" "0000410920" "CYP4V2" "0000410921" "CYP4V2" "0000410922" "CYP4V2" "0000410923" "CYP4V2" "0000410924" "CYP4V2" "0000410925" "CYP4V2" "0000410926" "CYP4V2" "0000410927" "CYP4V2" "0000410928" "CYP4V2" "0000410929" "CYP4V2" "0000410930" "CYP4V2" "0000410931" "CYP4V2" "0000410932" "CYP4V2" "0000410933" "CYP4V2" "0000410934" "CYP4V2" "0000410935" "CYP4V2" "0000410936" "CYP4V2" "0000410937" "CYP4V2" "0000410938" "CYP4V2" "0000410939" "CYP4V2" "0000410940" "CYP4V2" "0000410941" "CYP4V2" "0000410942" "CYP4V2" "0000410943" "CYP4V2" "0000410944" "CYP4V2" "0000410945" "CYP4V2" "0000410946" "CYP4V2" "0000410947" "CYP4V2" "0000410948" "CYP4V2" "0000410949" "CYP4V2" "0000410950" "CYP4V2" "0000410951" "CYP4V2" "0000410952" "CYP4V2" "0000410953" "CYP4V2" "0000410954" "CYP4V2" "0000410955" "CYP4V2" "0000410956" "CYP4V2" "0000412889" "RHO" "0000415657" "CYP4V2" "0000421710" "CYP4V2" "0000421720" "CYP4V2" "0000421734" "CYP4V2" "0000421751" "CYP4V2" "0000421764" "CYP4V2" "0000421778" "CYP4V2" "0000421795" "CYP4V2" "0000421816" "CYP4V2" "0000421839" "CYP4V2" "0000421850" "CYP4V2" "0000421896" "CYP4V2" "0000421901" "CYP4V2" ## 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 = 1059 "{{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}}" "0000000101" "0" "50" "1" "43804340" "43804340" "subst" "0.0247897" "00002" "MPL_000001" "g.43804340G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.43338669G>A" "" "VUS" "" "0000019529" "0" "55" "4" "187122303" "187122319" "delins" "0" "00102" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201149_186201165delinsGC" "" "VUS" "" "0000019530" "0" "55" "4" "187130017" "187130017" "subst" "4.8727E-5" "00102" "CYP4V2_000003" "g.187130017A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186208863A>G" "" "VUS" "" "0000019531" "0" "55" "4" "187122303" "187122319" "delins" "0" "00102" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201149_186201165delinsGC" "" "VUS" "" "0000019532" "0" "55" "4" "187130017" "187130017" "subst" "4.8727E-5" "00102" "CYP4V2_000003" "g.187130017A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186208863A>G" "" "VUS" "" "0000019533" "0" "55" "4" "187122303" "187122319" "delins" "0" "00102" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201149_186201165delinsGC" "" "VUS" "" "0000019534" "0" "55" "4" "187126386" "187126386" "subst" "4.06055E-6" "00102" "CYP4V2_000004" "g.187126386G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186205232G>A" "" "VUS" "" "0000019539" "0" "55" "4" "187122303" "187122319" "delins" "0" "00102" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201149_186201165delinsGC" "" "VUS" "" "0000019540" "0" "55" "4" "187126393" "187126393" "subst" "0" "00102" "CYP4V2_000002" "g.187126393T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186205239T>G" "" "VUS" "" "0000130339" "3" "90" "4" "187113048" "187113048" "subst" "0" "01769" "CYP4V2_000005" "g.187113048T>C" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.186191894T>C" "" "pathogenic" "" "0000130340" "3" "90" "4" "187113111" "187113111" "subst" "0" "01769" "CYP4V2_000008" "g.187113111A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186191957A>C" "" "pathogenic" "" "0000130342" "3" "90" "4" "187113111" "187113111" "subst" "0" "01769" "CYP4V2_000008" "g.187113111A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186191957A>C" "" "pathogenic" "" "0000130343" "0" "90" "4" "187122319" "187122319" "del" "5.68722E-5" "01769" "CYP4V2_000015" "g.187122319del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201165del" "" "pathogenic" "" "0000130345" "0" "90" "4" "187122319" "187122319" "del" "5.68722E-5" "01769" "CYP4V2_000015" "g.187122319del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201165del" "" "pathogenic" "" "0000130347" "0" "90" "4" "187122319" "187122319" "del" "5.68722E-5" "01769" "CYP4V2_000015" "g.187122319del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201165del" "" "pathogenic" "" "0000130349" "0" "90" "4" "187122319" "187122319" "del" "5.68722E-5" "01769" "CYP4V2_000015" "g.187122319del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201165del" "" "pathogenic" "" "0000130351" "0" "90" "4" "187122437" "187122437" "subst" "4.06058E-6" "01769" "CYP4V2_000016" "g.187122437G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201283G>T" "" "pathogenic" "" "0000130355" "0" "90" "4" "187130106" "187130106" "subst" "0" "01769" "CYP4V2_000021" "g.187130106C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186208952C>T" "" "pathogenic" "" "0000130356" "3" "90" "4" "187130147" "187130147" "subst" "0" "01769" "CYP4V2_000025" "g.187130147G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186208993G>T" "" "pathogenic" "" "0000130357" "0" "90" "4" "187130376" "187130376" "subst" "9.74706E-5" "01769" "CYP4V2_000028" "g.187130376G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186209222G>A" "" "pathogenic" "" "0000130359" "3" "90" "4" "187130154" "187130154" "subst" "4.06068E-6" "01769" "CYP4V2_000026" "g.187130154G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186209000G>A" "" "pathogenic" "" "0000130360" "0" "90" "4" "187131661" "187131661" "del" "0" "01769" "CYP4V2_000031" "g.187131661del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186210507del" "" "pathogenic" "" "0000130362" "3" "50" "4" "187113041" "187113041" "subst" "0.44398" "01769" "CYP4V2_000032" "g.187113041C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186191887C>G" "" "VUS" "" "0000130363" "3" "50" "4" "187113041" "187113041" "subst" "0.44398" "01769" "CYP4V2_000032" "g.187113041C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186191887C>G" "" "VUS" "" "0000130365" "3" "50" "4" "187113041" "187113041" "subst" "0.44398" "01769" "CYP4V2_000032" "g.187113041C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186191887C>G" "" "VUS" "" "0000130367" "3" "90" "4" "187113174" "187113174" "subst" "4.22735E-5" "01769" "CYP4V2_000009" "g.187113174T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186192020T>G" "" "pathogenic" "" "0000130368" "0" "90" "4" "187115722" "187115722" "subst" "4.46671E-5" "01769" "CYP4V2_000010" "g.187115722G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186194568G>A" "" "pathogenic" "" "0000130370" "3" "90" "4" "187117161" "187117161" "subst" "4.47085E-5" "01769" "CYP4V2_000011" "g.187117161T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186196007T>C" "" "pathogenic" "" "0000130371" "3" "90" "4" "187117161" "187117161" "subst" "4.47085E-5" "01769" "CYP4V2_000011" "g.187117161T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186196007T>C" "" "pathogenic" "" "0000130372" "3" "90" "4" "187117161" "187117161" "subst" "4.47085E-5" "01769" "CYP4V2_000011" "g.187117161T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186196007T>C" "" "pathogenic" "" "0000130373" "3" "90" "4" "187117161" "187117161" "subst" "4.47085E-5" "01769" "CYP4V2_000011" "g.187117161T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186196007T>C" "" "pathogenic" "" "0000130374" "3" "90" "4" "187117161" "187117161" "subst" "4.47085E-5" "01769" "CYP4V2_000011" "g.187117161T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186196007T>C" "" "pathogenic" "" "0000130376" "3" "90" "4" "187117161" "187117161" "subst" "4.47085E-5" "01769" "CYP4V2_000011" "g.187117161T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186196007T>C" "" "pathogenic" "" "0000130377" "3" "90" "4" "187117161" "187117161" "subst" "4.47085E-5" "01769" "CYP4V2_000011" "g.187117161T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186196007T>C" "" "pathogenic" "" "0000130378" "3" "90" "4" "187120113" "187120113" "subst" "8.12486E-6" "01769" "CYP4V2_000012" "g.187120113T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186198959T>A" "" "pathogenic" "" "0000130379" "0" "90" "4" "187120130" "187120130" "subst" "2.0311E-5" "01769" "CYP4V2_000013" "g.187120130C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186198976C>T" "" "pathogenic" "" "0000130381" "0" "90" "4" "187120130" "187120130" "subst" "2.0311E-5" "01769" "CYP4V2_000013" "g.187120130C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186198976C>T" "" "pathogenic" "" "0000130383" "0" "50" "4" "187120211" "187120211" "subst" "0.574464" "01769" "CYP4V2_000014" "g.187120211C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186199057C>A" "" "VUS" "" "0000130384" "0" "50" "4" "187120211" "187120211" "subst" "0.574464" "01769" "CYP4V2_000014" "g.187120211C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186199057C>A" "" "VUS" "" "0000130385" "0" "90" "4" "187120211" "187120211" "subst" "0.574464" "01769" "CYP4V2_000014" "g.187120211C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186199057C>A" "" "pathogenic" "" "0000130386" "3" "90" "4" "187122303" "187122319" "delins" "0" "01769" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000130387" "3" "90" "4" "187122303" "187122319" "delins" "0" "01769" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000130388" "3" "90" "4" "187122303" "187122319" "delins" "0" "01769" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000130389" "0" "90" "4" "187122303" "187122319" "delins" "0" "01769" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000130390" "3" "90" "4" "187122303" "187122319" "delins" "0" "01769" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000130391" "0" "90" "4" "187122303" "187122319" "delins" "0" "01769" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000130393" "0" "90" "4" "187122303" "187122319" "delins" "0" "01769" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000130395" "0" "90" "4" "187122303" "187122319" "delins" "0" "01769" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000130397" "0" "90" "4" "187122303" "187122319" "delins" "0" "01769" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000130399" "0" "90" "4" "187122303" "187122319" "delins" "0" "01769" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000130401" "0" "90" "4" "187122303" "187122319" "delins" "0" "01769" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000130403" "0" "90" "4" "187122303" "187122319" "delins" "0" "01769" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000130405" "0" "90" "4" "187122303" "187122319" "delins" "0" "01769" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000130407" "3" "90" "4" "187126358" "187126358" "subst" "7.71505E-5" "01769" "CYP4V2_000018" "g.187126358A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186205204A>C" "" "pathogenic" "" "0000130408" "3" "90" "4" "187126358" "187126358" "subst" "7.71505E-5" "01769" "CYP4V2_000018" "g.187126358A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186205204A>C" "" "pathogenic" "" "0000130409" "0" "90" "4" "187126358" "187126358" "subst" "7.71505E-5" "01769" "CYP4V2_000018" "g.187126358A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186205204A>C" "" "pathogenic" "" "0000130411" "0" "90" "4" "187126358" "187126358" "subst" "7.71505E-5" "01769" "CYP4V2_000018" "g.187126358A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186205204A>C" "" "pathogenic" "" "0000130413" "0" "90" "4" "187126358" "187126358" "subst" "7.71505E-5" "01769" "CYP4V2_000018" "g.187126358A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186205204A>C" "" "pathogenic" "" "0000130415" "3" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "01769" "CYP4V2_000003" "g.187130017A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "" "0000130416" "3" "90" "4" "187130096" "187130096" "subst" "2.84245E-5" "01769" "CYP4V2_000019" "g.187130096C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186208942C>T" "" "pathogenic" "" "0000130417" "3" "90" "4" "187130097" "187130097" "subst" "2.84243E-5" "01769" "CYP4V2_000020" "g.187130097G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186208943G>A" "" "pathogenic" "" "0000130418" "3" "90" "4" "187130126" "187130126" "subst" "4.87282E-5" "01769" "CYP4V2_000023" "g.187130126C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186208972C>T" "" "pathogenic" "" "0000130419" "3" "90" "4" "187130349" "187130349" "subst" "0.00129949" "01769" "CYP4V2_000027" "g.187130349G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186209195G>A" "" "pathogenic" "" "0000130422" "3" "90" "4" "187130349" "187130349" "subst" "0.00129949" "01769" "CYP4V2_000027" "g.187130349G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186209195G>A" "" "pathogenic" "" "0000130423" "0" "90" "4" "187130349" "187130349" "subst" "0.00129949" "01769" "CYP4V2_000027" "g.187130349G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186209195G>A" "" "pathogenic" "" "0000130425" "0" "90" "4" "187130349" "187130349" "subst" "0.00129949" "01769" "CYP4V2_000027" "g.187130349G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186209195G>A" "" "pathogenic" "" "0000130427" "3" "90" "4" "187130414" "187130414" "subst" "3.24934E-5" "01769" "CYP4V2_000030" "g.187130414A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186209260A>G" "" "pathogenic" "" "0000130428" "0" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "01769" "CYP4V2_000003" "g.187130017A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "" "0000130429" "0" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "01769" "CYP4V2_000003" "g.187130017A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "" "0000130430" "0" "90" "4" "187120130" "187120130" "subst" "2.0311E-5" "01769" "CYP4V2_000013" "g.187120130C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186198976C>T" "" "pathogenic" "" "0000130431" "0" "90" "4" "187122467" "187122467" "subst" "4.06075E-6" "01769" "CYP4V2_000017" "g.187122467C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201313C>T" "" "pathogenic" "" "0000130432" "0" "90" "4" "187113107" "187113107" "subst" "0.000225676" "01769" "CYP4V2_000007" "g.187113107T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186191953T>A" "" "pathogenic" "" "0000130433" "0" "90" "4" "187122303" "187122319" "delins" "0" "01769" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000130434" "0" "90" "4" "187122303" "187122319" "delins" "0" "01769" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000130435" "3" "50" "4" "187120211" "187120211" "subst" "0.574464" "01769" "CYP4V2_000014" "g.187120211C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186199057C>A" "" "VUS" "" "0000130436" "0" "90" "4" "187130414" "187130414" "subst" "3.24934E-5" "01769" "CYP4V2_000030" "g.187130414A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186209260A>G" "" "pathogenic" "" "0000130437" "0" "90" "4" "187126393" "187126393" "subst" "0" "01769" "CYP4V2_000002" "g.187126393T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186205239T>G" "" "pathogenic" "" "0000130438" "0" "90" "4" "187130127" "187130127" "subst" "5.68505E-5" "01769" "CYP4V2_000024" "g.187130127G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186208973G>A" "" "pathogenic" "" "0000130439" "0" "90" "4" "187126358" "187126358" "subst" "7.71505E-5" "01769" "CYP4V2_000018" "g.187126358A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186205204A>C" "" "pathogenic" "" "0000130440" "0" "90" "4" "187126358" "187126358" "subst" "7.71505E-5" "01769" "CYP4V2_000018" "g.187126358A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186205204A>C" "" "pathogenic" "" "0000130441" "0" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "01769" "CYP4V2_000003" "g.187130017A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "" "0000130442" "0" "90" "4" "187126358" "187126358" "subst" "7.71505E-5" "01769" "CYP4V2_000018" "g.187126358A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186205204A>C" "" "pathogenic" "" "0000130443" "0" "90" "4" "187126358" "187126358" "subst" "7.71505E-5" "01769" "CYP4V2_000018" "g.187126358A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186205204A>C" "" "pathogenic" "" "0000130444" "0" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "01769" "CYP4V2_000003" "g.187130017A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "" "0000130445" "0" "90" "4" "187126358" "187126358" "subst" "7.71505E-5" "01769" "CYP4V2_000018" "g.187126358A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186205204A>C" "" "pathogenic" "" "0000130446" "0" "90" "4" "187130127" "187130127" "subst" "5.68505E-5" "01769" "CYP4V2_000024" "g.187130127G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186208973G>A" "" "pathogenic" "" "0000130447" "0" "90" "4" "187130115" "187130115" "subst" "4.06058E-6" "01769" "CYP4V2_000022" "g.187130115C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186208961C>T" "" "pathogenic" "" "0000130448" "0" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "01769" "CYP4V2_000003" "g.187130017A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "" "0000130449" "0" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "01769" "CYP4V2_000003" "g.187130017A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "" "0000130450" "0" "90" "4" "187130393" "187130393" "subst" "6.09182E-5" "01769" "CYP4V2_000029" "g.187130393G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186209239G>A" "" "pathogenic" "" "0000130451" "0" "90" "4" "187130393" "187130393" "subst" "6.09182E-5" "01769" "CYP4V2_000029" "g.187130393G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.186209239G>A" "" "pathogenic" "" "0000147129" "1" "90" "4" "187126358" "187126358" "subst" "7.71505E-5" "00006" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}, {OMIM608614:0007}" "" "1296A>C" "" "Germline" "yes" "rs199476197" "0" "" "" "g.186205204A>C" "" "pathogenic" "" "0000147130" "3" "90" "4" "187122303" "187122316" "del" "5.688E-5" "00006" "CYP4V2_000006" "g.187122303_187122316del" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}, {OMIM608614:0006}" "" "IVS6-8delTCATACAGGTCATC" "" "Germline" "yes" "rs207482233" "0" "" "" "g.186201149_186201162del" "" "pathogenic" "" "0000147131" "3" "90" "4" "187122303" "187122316" "del" "5.688E-5" "00006" "CYP4V2_000006" "g.187122303_187122316del" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}, {OMIM608614:0006}" "" "IVS6-8delTCATACAGGTCATC" "" "Germline" "yes" "rs207482233" "0" "" "" "g.186201149_186201162del" "" "pathogenic" "" "0000147132" "3" "90" "4" "187122303" "187122316" "del" "5.688E-5" "00006" "CYP4V2_000006" "g.187122303_187122316del" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}, {OMIM608614:0006}" "" "IVS6-8delTCATACAGGTCATC" "" "Germline" "yes" "rs207482233" "0" "" "" "g.186201149_186201162del" "" "pathogenic" "" "0000147133" "3" "90" "4" "187122303" "187122316" "del" "5.688E-5" "00006" "CYP4V2_000006" "g.187122303_187122316del" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}, {OMIM608614:0006}" "" "IVS6-8delTCATACAGGTCATC" "" "Germline" "yes" "rs207482233" "0" "" "" "g.186201149_186201162del" "" "pathogenic" "" "0000147134" "3" "90" "4" "187122303" "187122316" "del" "5.688E-5" "00006" "CYP4V2_000006" "g.187122303_187122316del" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}, {OMIM608614:0006}" "" "IVS6-8delTCATACAGGTCATC" "" "Germline" "yes" "rs207482233" "0" "" "" "g.186201149_186201162del" "" "pathogenic" "" "0000147135" "3" "90" "4" "187122303" "187122316" "del" "5.688E-5" "00006" "CYP4V2_000006" "g.187122303_187122316del" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}, {OMIM608614:0006}" "" "IVS6-8delTCATACAGGTCATC" "" "Germline" "yes" "rs207482233" "0" "" "" "g.186201149_186201162del" "" "pathogenic" "" "0000147136" "3" "90" "4" "187122303" "187122316" "del" "5.688E-5" "00006" "CYP4V2_000006" "g.187122303_187122316del" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}, {OMIM608614:0006}" "" "IVS6-8delTCATACAGGTCATC" "" "Germline" "yes" "rs207482233" "0" "" "" "g.186201149_186201162del" "" "pathogenic" "" "0000147137" "3" "90" "4" "187122303" "187122316" "del" "5.688E-5" "00006" "CYP4V2_000006" "g.187122303_187122316del" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}, {OMIM608614:0006}" "" "IVS6-8delTCATACAGGTCATC" "" "Germline" "yes" "rs207482233" "0" "" "" "g.186201149_186201162del" "" "pathogenic" "" "0000147138" "3" "90" "4" "187117161" "187117161" "subst" "4.47085E-5" "00006" "CYP4V2_000011" "g.187117161T>C" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}, {OMIM608614:0002}" "" "636T>C" "" "Germline" "yes" "rs119103283" "0" "" "" "g.186196007T>C" "" "pathogenic" "" "0000147139" "1" "90" "4" "187117161" "187117161" "subst" "4.47085E-5" "00006" "CYP4V2_000011" "g.187117161T>C" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}, {OMIM608614:0002}" "" "636T>C" "" "Germline" "yes" "rs119103283" "0" "" "" "g.186196007T>C" "" "pathogenic" "" "0000147140" "1" "90" "4" "187113158" "187113158" "subst" "0" "00006" "CYP4V2_000033" "g.187113158G>A" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}, {OMIM608614:0004}" "" "485G>A" "" "Germline" "yes" "rs119103285" "0" "" "" "g.186192004G>A" "" "pathogenic" "" "0000147141" "3" "90" "4" "187122303" "187122316" "del" "5.688E-5" "00006" "CYP4V2_000006" "g.187122303_187122316del" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}, {OMIM608614:0006}" "" "IVS6-8delTCATACAGGTCATC" "" "Germline" "yes" "rs207482233" "0" "" "" "g.186201149_186201162del" "" "pathogenic" "" "0000147142" "3" "90" "4" "187131740" "187131740" "subst" "0" "00006" "CYP4V2_000034" "g.187131740C>A" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}, {OMIM608614:0003}" "" "1827G>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs119103284" "0" "" "" "g.186210586C>A" "" "pathogenic" "" "0000147143" "3" "90" "4" "187122303" "187122316" "del" "5.688E-5" "00006" "CYP4V2_000006" "g.187122303_187122316del" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}, {OMIM608614:0006}" "" "IVS6-8delTCATACAGGTCATC" "" "Germline" "" "rs207482233" "0" "" "" "g.186201149_186201162del" "" "pathogenic" "" "0000147144" "1" "90" "4" "187115676" "187115676" "subst" "0.000263951" "00006" "CYP4V2_000035" "g.187115676G>T" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "541G>T" "" "Germline" "" "" "0" "" "" "g.186194522G>T" "" "pathogenic" "" "0000147145" "1" "90" "4" "187115767" "187115767" "subst" "0" "00006" "CYP4V2_000036" "g.187115767G>A" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "IVS2+1G>A" "" "Germline" "" "" "0" "" "" "g.186194613G>A" "" "pathogenic" "" "0000147146" "3" "90" "4" "187122303" "187122316" "del" "5.688E-5" "00006" "CYP4V2_000006" "g.187122303_187122316del" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}, {OMIM608614:0006}" "" "IVS6-8delTCATACAGGTCATC" "" "Germline" "" "rs207482233" "0" "" "" "g.186201149_186201162del" "" "pathogenic" "" "0000147147" "3" "90" "4" "187122303" "187122316" "del" "5.688E-5" "00006" "CYP4V2_000006" "g.187122303_187122316del" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}, {OMIM608614:0006}" "" "IVS6-8delTCATACAGGTCATC" "" "Germline" "" "rs207482233" "0" "" "" "g.186201149_186201162del" "" "pathogenic" "" "0000147148" "1" "90" "4" "187113107" "187113107" "subst" "0.000225676" "00006" "CYP4V2_000007" "g.187113107T>A" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}, {OMIM608614:0001}" "" "434T>A" "" "Germline" "" "rs119103282" "0" "" "" "g.186191953T>A" "" "pathogenic" "" "0000147149" "3" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00006" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "IVS8-2A>G" "" "Germline" "" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "" "0000147150" "1" "90" "4" "187122303" "187122316" "del" "5.688E-5" "00006" "CYP4V2_000006" "g.187122303_187122316del" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}, {OMIM608614:0006}" "" "IVS6-8delTCATACAGGTCATC" "" "Germline" "" "rs207482233" "0" "" "" "g.186201149_186201162del" "" "pathogenic" "" "0000147151" "1" "90" "4" "187126387" "187126387" "subst" "0" "00006" "CYP4V2_000037" "g.187126387T>C" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "1325T>C" "" "Germline" "" "" "0" "" "" "g.186205233T>C" "" "pathogenic" "" "0000147152" "1" "90" "4" "187126358" "187126358" "subst" "7.71505E-5" "00006" "CYP4V2_000018" "g.187126358A>C" "1/50 controls" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}, {OMIM608614:0007}" "" "1296A>C" "" "Germline" "yes" "rs199476197" "0" "" "" "g.186205204A>C" "" "pathogenic" "" "0000147153" "2" "90" "4" "187122303" "187122316" "del" "5.688E-5" "00006" "CYP4V2_000006" "g.187122303_187122316del" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}, {OMIM608614:0006}" "" "IVS6-8delTCATACAGGTCATC" "" "Germline" "yes" "rs207482233" "0" "" "" "g.186201149_186201162del" "" "pathogenic" "" "0000147154" "2" "90" "4" "187117229" "187117229" "subst" "0.00019902" "00006" "CYP4V2_000038" "g.187117229G>T" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "704G>T" "" "Germline" "yes" "" "0" "" "" "g.186196075G>T" "" "pathogenic" "" "0000147155" "2" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00006" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "IVS8-2A>G" "" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "" "0000147156" "2" "90" "4" "187117196" "187117196" "subst" "0.000771661" "00006" "CYP4V2_000039" "g.187117196A>G" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "671A>G" "" "Germline" "" "" "0" "" "" "g.186196042A>G" "" "pathogenic" "" "0000147157" "2" "50" "4" "187115791" "187115791" "del" "0" "00006" "CYP4V2_000040" "g.187115791del" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "IVS2+25delT" "" "Germline" "" "" "0" "" "" "g.186194637del" "" "VUS" "" "0000147158" "2" "90" "4" "187117161" "187117161" "subst" "4.47085E-5" "00006" "CYP4V2_000011" "g.187117161T>C" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}, {OMIM608614:0002}" "" "636T>C" "" "Germline" "" "rs119103283" "0" "" "" "g.186196007T>C" "" "pathogenic" "" "0000147159" "2" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00006" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}, {OMIM608614:0005}" "" "IVS8-2A>G" "" "Germline" "" "rs199476183" "0" "" "" "g.186208863A>G" "" "pathogenic" "" "0000147160" "2" "90" "4" "187117156" "187117156" "subst" "0" "00006" "CYP4V2_000041" "g.187117156G>A" "" "{PMID:Li 2004:15042513}, {DOI:Li 2004:10.1086/383228}" "" "IVS2-1G>A" "" "Germline" "" "" "0" "" "" "g.186196002G>A" "" "pathogenic" "" "0000265173" "0" "30" "4" "187130349" "187130349" "subst" "0.00129949" "02330" "CYP4V2_000027" "g.187130349G>A" "" "" "" "CYP4V2(NM_207352.3):c.1328G>A (p.R443Q), CYP4V2(NM_207352.4):c.1328G>A (p.R443Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186209195G>A" "" "likely benign" "" "0000265174" "0" "10" "4" "187113041" "187113041" "subst" "0.44398" "02330" "CYP4V2_000032" "g.187113041C>G" "" "" "" "CYP4V2(NM_207352.4):c.64C>G (p.L22V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186191887C>G" "" "benign" "" "0000265175" "0" "10" "4" "187113076" "187113076" "subst" "0.00136597" "02330" "CYP4V2_000043" "g.187113076G>A" "" "" "" "CYP4V2(NM_207352.4):c.99G>A (p.L33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186191922G>A" "" "benign" "" "0000267259" "0" "10" "4" "187113041" "187113041" "subst" "0.44398" "02325" "CYP4V2_000032" "g.187113041C>G" "" "" "" "CYP4V2(NM_207352.4):c.64C>G (p.L22V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186191887C>G" "" "benign" "" "0000267260" "0" "10" "4" "187120211" "187120211" "subst" "0.574464" "02325" "CYP4V2_000014" "g.187120211C>A" "" "" "" "CYP4V2(NM_207352.4):c.775C>A (p.Q259K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186199057C>A" "" "benign" "" "0000267261" "0" "10" "4" "187122304" "187122304" "subst" "0.333663" "02325" "CYP4V2_000044" "g.187122304C>T" "" "" "" "CYP4V2(NM_207352.4):c.802-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186201150C>T" "" "benign" "" "0000267262" "0" "10" "4" "187122319" "187122319" "subst" "0.589323" "02325" "CYP4V2_000045" "g.187122319T>G" "" "" "" "CYP4V2(NM_207352.4):c.810T>G (p.A270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186201165T>G" "" "benign" "" "0000267263" "0" "10" "4" "187122355" "187122355" "subst" "0.122491" "02325" "CYP4V2_000046" "g.187122355T>C" "" "" "" "CYP4V2(NM_207352.4):c.846T>C (p.C282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186201201T>C" "" "benign" "" "0000274724" "0" "50" "4" "187130393" "187130393" "subst" "6.09182E-5" "01943" "CYP4V2_000029" "g.187130393G>A" "" "" "" "CYP4V2(NM_207352.3):c.1372G>A (p.V458M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186209239G>A" "" "VUS" "" "0000274725" "0" "30" "4" "187131663" "187131663" "subst" "0.000995223" "01943" "CYP4V2_000047" "g.187131663G>A" "" "" "" "CYP4V2(NM_207352.3):c.1446G>A (p.S482=), CYP4V2(NM_207352.4):c.1446G>A (p.S482=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186210509G>A" "" "likely benign" "" "0000274726" "0" "30" "4" "187113001" "187113001" "subst" "0.00102461" "01943" "CYP4V2_000042" "g.187113001C>T" "" "" "" "CYP4V2(NM_207352.3):c.24C>T (p.L8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186191847C>T" "" "likely benign" "" "0000337400" "0" "30" "4" "187112676" "187112676" "subst" "0" "02327" "CYP4V2_000048" "g.187112676G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186191522G>A" "" "likely benign" "" "0000337401" "0" "10" "4" "187112682" "187112682" "subst" "0" "02327" "CYP4V2_000049" "g.187112682A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186191528A>C" "" "benign" "" "0000337402" "0" "10" "4" "187112826" "187112826" "subst" "0" "02327" "CYP4V2_000050" "g.187112826A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186191672A>G" "" "benign" "" "0000337403" "0" "30" "4" "187112832" "187112832" "subst" "0" "02327" "CYP4V2_000051" "g.187112832C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186191678C>T" "" "likely benign" "" "0000337404" "0" "10" "4" "187115777" "187115777" "subst" "0.0538267" "02327" "CYP4V2_000052" "g.187115777G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186194623G>C" "" "benign" "" "0000339581" "0" "10" "4" "187122319" "187122319" "subst" "0.589323" "02327" "CYP4V2_000045" "g.187122319T>G" "" "" "" "CYP4V2(NM_207352.4):c.810T>G (p.A270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186201165T>G" "" "benign" "" "0000339582" "0" "10" "4" "187122355" "187122355" "subst" "0.122491" "02327" "CYP4V2_000046" "g.187122355T>C" "" "" "" "CYP4V2(NM_207352.4):c.846T>C (p.C282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186201201T>C" "" "benign" "" "0000341261" "0" "50" "4" "187118692" "187118692" "subst" "0.00296836" "02327" "CYP4V2_000053" "g.187118692G>A" "" "" "" "CYP4V2(NM_207352.3):c.610G>A (p.A204T), CYP4V2(NM_207352.4):c.610G>A (p.A204T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186197538G>A" "" "VUS" "" "0000342748" "0" "50" "4" "187130031" "187130031" "subst" "0.000203032" "02327" "CYP4V2_000055" "g.187130031G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186208877G>A" "" "VUS" "" "0000344712" "0" "10" "4" "187120211" "187120211" "subst" "0.574464" "02327" "CYP4V2_000014" "g.187120211C>A" "" "" "" "CYP4V2(NM_207352.4):c.775C>A (p.Q259K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186199057C>A" "" "benign" "" "0000347009" "0" "10" "4" "187113041" "187113041" "subst" "0.44398" "02327" "CYP4V2_000032" "g.187113041C>G" "" "" "" "CYP4V2(NM_207352.4):c.64C>G (p.L22V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186191887C>G" "" "benign" "" "0000349741" "0" "90" "4" "187120168" "187120168" "subst" "0" "02327" "CYP4V2_000054" "g.187120168G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186199014G>A" "" "pathogenic" "" "0000350990" "0" "90" "4" "187122303" "187122319" "delins" "0" "02327" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000358246" "3" "90" "4" "187130051" "187130051" "del" "0" "01243" "CYP4V2_000056" "g.187130051del" "" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.186208897del" "" "pathogenic (recessive)" "" "0000476415" "0" "50" "4" "187113041" "187113041" "subst" "0.44398" "02591" "CYP4V2_000032" "g.187113041C>G" "490/1197 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs1055138" "0" "" "" "g.186191887C>G" "" "VUS" "" "0000476416" "0" "50" "4" "187113083" "187113083" "subst" "0" "02591" "CYP4V2_000057" "g.187113083A>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.186191929A>G" "" "VUS" "" "0000476417" "0" "50" "4" "187113129" "187113129" "subst" "0" "02591" "CYP4V2_000058" "g.187113129C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.186191975C>T" "" "VUS" "" "0000476418" "0" "50" "4" "187117196" "187117196" "subst" "0.000771661" "02591" "CYP4V2_000039" "g.187117196A>G" "10/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs149684063" "0" "" "" "g.186196042A>G" "" "VUS" "" "0000476419" "0" "10" "4" "187120211" "187120211" "subst" "0.574464" "02591" "CYP4V2_000014" "g.187120211C>A" "590/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs13146272" "0" "" "" "g.186199057C>A" "" "benign" "" "0000476420" "0" "50" "4" "187120216" "187120216" "subst" "8.1242E-5" "02591" "CYP4V2_000059" "g.187120216C>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs753561422" "0" "" "" "g.186199062C>G" "" "VUS" "" "0000476421" "0" "50" "4" "187122468" "187122468" "subst" "0" "02591" "CYP4V2_000060" "g.187122468G>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.186201314G>T" "" "VUS" "" "0000476422" "0" "90" "4" "187126386" "187126386" "subst" "4.06055E-6" "02591" "CYP4V2_000004" "g.187126386G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs199476198" "0" "" "" "g.186205232G>A" "" "pathogenic" "" "0000476423" "0" "50" "4" "187130250" "187130250" "subst" "4.06075E-5" "02591" "CYP4V2_000061" "g.187130250G>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs566680277" "0" "" "" "g.186209096G>T" "" "VUS" "" "0000476424" "0" "50" "4" "187130348" "187130348" "subst" "2.84273E-5" "02591" "CYP4V2_000062" "g.187130348C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs777774802" "0" "" "" "g.186209194C>T" "" "VUS" "" "0000476425" "0" "90" "4" "187130393" "187130393" "subst" "6.09182E-5" "02591" "CYP4V2_000029" "g.187130393G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs202204817" "0" "" "" "g.186209239G>A" "" "pathogenic" "" "0000477486" "3" "50" "4" "187113041" "187113041" "subst" "0.44398" "02591" "CYP4V2_000032" "g.187113041C>G" "89/1197 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs1055138" "0" "" "" "g.186191887C>G" "" "VUS" "" "0000477487" "3" "10" "4" "187120211" "187120211" "subst" "0.574464" "02591" "CYP4V2_000014" "g.187120211C>A" "201/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs13146272" "0" "" "" "g.186199057C>A" "" "benign" "" "0000522270" "0" "50" "4" "187115676" "187115676" "subst" "0.000263951" "02330" "CYP4V2_000035" "g.187115676G>T" "" "" "" "CYP4V2(NM_207352.4):c.237G>T (p.E79D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.186194522G>T" "" "VUS" "" "0000522271" "0" "50" "4" "187117196" "187117196" "subst" "0.000771661" "02330" "CYP4V2_000039" "g.187117196A>G" "" "" "" "CYP4V2(NM_207352.4):c.367A>G (p.M123V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.186196042A>G" "" "VUS" "" "0000522272" "0" "30" "4" "187118692" "187118692" "subst" "0.00296836" "02330" "CYP4V2_000053" "g.187118692G>A" "" "" "" "CYP4V2(NM_207352.3):c.610G>A (p.A204T), CYP4V2(NM_207352.4):c.610G>A (p.A204T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.186197538G>A" "" "likely benign" "" "0000522273" "0" "30" "4" "187118692" "187118692" "subst" "0.00296836" "01943" "CYP4V2_000053" "g.187118692G>A" "" "" "" "CYP4V2(NM_207352.3):c.610G>A (p.A204T), CYP4V2(NM_207352.4):c.610G>A (p.A204T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.186197538G>A" "" "likely benign" "" "0000522274" "0" "10" "4" "187118770" "187118770" "subst" "0.000264028" "02330" "CYP4V2_000063" "g.187118770T>C" "" "" "" "CYP4V2(NM_207352.4):c.674+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.186197616T>C" "" "benign" "" "0000522275" "0" "50" "4" "187130106" "187130106" "subst" "0" "02327" "CYP4V2_000021" "g.187130106C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.186208952C>T" "" "VUS" "" "0000522276" "0" "50" "4" "187130349" "187130349" "subst" "0.00129949" "01943" "CYP4V2_000027" "g.187130349G>A" "" "" "" "CYP4V2(NM_207352.3):c.1328G>A (p.R443Q), CYP4V2(NM_207352.4):c.1328G>A (p.R443Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.186209195G>A" "" "VUS" "" "0000522277" "0" "10" "4" "187131663" "187131663" "subst" "0.000995223" "02330" "CYP4V2_000047" "g.187131663G>A" "" "" "" "CYP4V2(NM_207352.3):c.1446G>A (p.S482=), CYP4V2(NM_207352.4):c.1446G>A (p.S482=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.186210509G>A" "" "benign" "" "0000609166" "0" "30" "4" "187112985" "187112985" "subst" "0" "01943" "CYP4V2_000064" "g.187112985G>A" "" "" "" "CYP4V2(NM_207352.3):c.8G>A (p.G3E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.186191831G>A" "" "likely benign" "" "0000609167" "0" "90" "4" "187117229" "187117229" "subst" "0.00019902" "02327" "CYP4V2_000038" "g.187117229G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.186196075G>T" "" "pathogenic" "" "0000651462" "1" "50" "4" "187118692" "187118692" "subst" "0.00296836" "03575" "CYP4V2_000053" "g.187118692G>A" "12/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous, no homozygous; {DB:CLININrs61745524}" "Germline" "" "rs61745524" "0" "" "" "g.186197538G>A" "" "VUS" "" "0000651463" "1" "30" "4" "187122332" "187122332" "subst" "0.0261083" "03575" "CYP4V2_000065" "g.187122332G>A" "33/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "33 heterozygous, no homozygous; {DB:CLININrs34745240}" "Germline" "" "rs34745240" "0" "" "" "g.186201178G>A" "" "likely benign" "" "0000651464" "1" "90" "4" "187122483" "187122483" "subst" "2.03042E-5" "03575" "CYP4V2_000066" "g.187122483C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs199476196}" "Germline" "" "rs199476196" "0" "" "" "g.186201329C>T" "" "pathogenic" "" "0000651465" "1" "70" "4" "187130127" "187130127" "subst" "5.68505E-5" "03575" "CYP4V2_000024" "g.187130127G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs199476203}" "Germline" "" "rs199476203" "0" "" "" "g.186208973G>A" "" "likely pathogenic" "" "0000651466" "1" "90" "4" "187131740" "187131740" "subst" "3.65551E-5" "03575" "CYP4V2_000067" "g.187131740G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs119103284}" "Germline" "" "rs119103284" "0" "" "" "g.186210586G>A" "" "pathogenic" "" "0000655132" "0" "90" "4" "187117243" "187117243" "subst" "4.06283E-6" "01943" "CYP4V2_000068" "g.187117243G>A" "" "" "" "CYP4V2(NM_207352.3):c.413+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.186196089G>A" "" "pathogenic" "" "0000685185" "0" "90" "4" "187113097" "187113097" "subst" "0" "00004" "CYP4V2_000069" "g.187113097C>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685186" "0" "90" "4" "187130051" "187130051" "del" "0" "00004" "CYP4V2_000056" "g.187130051del" "4/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.1123delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000713357" "3" "90" "4" "187113174" "187113174" "subst" "4.22735E-5" "00000" "CYP4V2_000009" "g.187113174T>G" "" "{PMID:Carss 2017:28041643}" "" "4:187113174T>G ENST00000378802.4:c.197T>G (Met66Arg)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000729743" "1" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Maeda 2018:29785639}" "" "c.802-8_810del17insGC" "" "Germline" "" "rs530014373" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000729744" "1" "70" "4" "187120146" "187120146" "subst" "0" "00000" "CYP4V2_000070" "g.187120146C>A" "" "{PMID:Maeda 2018:29785639}" "" "" "" "Germline" "" "" "0" "" "" "g.186198992C>A" "" "likely pathogenic" "" "0000729782" "2" "90" "4" "187126386" "187126386" "subst" "4.06055E-6" "00000" "CYP4V2_000004" "g.187126386G>A" "" "{PMID:Maeda 2018:29785639}" "" "" "" "Germline" "" "rs199476198" "0" "" "" "g.186205232G>A" "" "pathogenic" "" "0000729783" "2" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Maeda 2018:29785639}" "" "c.802-8_810del17insGC" "" "Germline" "" "rs530014373" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000732473" "0" "50" "4" "187113017" "187113017" "subst" "5.21959E-6" "00000" "CYP4V2_000071" "g.187113017C>G" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.186191863C>G" "" "VUS" "" "0000734383" "1" "50" "4" "187126386" "187126386" "subst" "4.06055E-6" "00000" "CYP4V2_000004" "g.187126386G>A" "" "{PMID:Huang 2017:28512305}" "" "" "" "Unknown" "" "" "0" "" "" "g.186205232G>A" "" "VUS" "" "0000734384" "1" "50" "4" "187126386" "187126386" "subst" "4.06055E-6" "00000" "CYP4V2_000004" "g.187126386G>A" "" "{PMID:Huang 2017:28512305}" "" "" "" "Unknown" "" "" "0" "" "" "g.186205232G>A" "" "VUS" "" "0000734385" "3" "50" "4" "187130054" "187130054" "subst" "0" "00000" "CYP4V2_000072" "g.187130054A>G" "" "{PMID:Huang 2017:28512305}" "" "" "" "Unknown" "" "" "0" "" "" "g.186208900A>G" "" "VUS" "" "0000734406" "2" "50" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Huang 2017:28512305}" "" "" "" "Unknown" "" "" "0" "" "" "g.186208863A>G" "" "VUS" "" "0000734407" "2" "50" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Huang 2017:28512305}" "" "" "" "Unknown" "" "" "0" "" "" "g.186208863A>G" "" "VUS" "" "0000736057" "1" "90" "4" "187115658" "187115658" "subst" "4.06134E-6" "00000" "CYP4V2_000073" "g.187115658T>A" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.186194504T>A" "" "pathogenic" "" "0000736062" "1" "90" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.186205204A>C" "" "pathogenic" "" "0000736063" "3" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000075" "g.187122303_187122319delinsN[2]" "" "{PMID:Huang 2018:29641573}" "" "c.802-8_810del17bpins2" "" "Germline" "" "" "0" "" "" "g.186201149_186201165delinsN[2]" "" "pathogenic" "" "0000736066" "1" "90" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.186205204A>C" "" "pathogenic" "" "0000736069" "1" "90" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.186205204A>C" "" "pathogenic" "" "0000736083" "1" "70" "4" "187115658" "187115658" "subst" "4.06134E-6" "00000" "CYP4V2_000073" "g.187115658T>A" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.186194504T>A" "" "likely pathogenic" "" "0000736117" "2" "90" "4" "187122305" "187122319" "del" "0" "00000" "CYP4V2_000076" "g.187122305_187122319del" "" "{PMID:Huang 2018:29641573}" "" "c.802-6_810del15" "" "Germline" "" "" "0" "" "" "g.186201151_186201165del" "" "pathogenic" "" "0000736118" "2" "90" "4" "187115658" "187115658" "subst" "4.06134E-6" "00000" "CYP4V2_000073" "g.187115658T>A" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.186194504T>A" "" "pathogenic" "" "0000736119" "2" "90" "4" "187122319" "187122319" "del" "5.68722E-5" "00000" "CYP4V2_000015" "g.187122319del" "" "{PMID:Huang 2018:29641573}" "" "c.810_810delT" "" "Germline" "" "" "0" "" "" "g.186201165del" "" "pathogenic" "" "0000736121" "2" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000736127" "2" "70" "4" "187117195" "187117195" "dup" "0" "00000" "CYP4V2_000074" "g.187117195dup" "" "{PMID:Huang 2018:29641573}" "" "c.365_366insT" "" "Germline" "" "" "0" "" "" "g.186196041dup" "" "likely pathogenic" "" "0000764113" "1" "70" "4" "187118692" "187118692" "subst" "0.00296836" "04043" "CYP4V2_000053" "g.187118692G>A" "" "{PMID:Fadaie 2021:34795310}" "" "" "" "Germline" "" "" "0" "" "" "g.186197538G>A" "" "likely pathogenic (recessive)" "" "0000764148" "2" "30" "4" "187114070" "187114073" "delins" "0" "04043" "CYP4V2_000077" "g.187114070_187114073delinsG" "" "{PMID:Fadaie 2021:34795310}" "" "" "" "Germline" "" "" "0" "" "" "g.186192916_186192919delinsG" "" "likely benign" "" "0000764905" "1" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.186194568G>A" "" "likely pathogenic (recessive)" "" "0000764932" "2" "70" "4" "187130126" "187130126" "subst" "4.87282E-5" "00000" "CYP4V2_000023" "g.187130126C>T" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.186208972C>T" "" "likely pathogenic (recessive)" "" "0000766049" "0" "90" "4" "187130051" "187130051" "del" "0" "00004" "CYP4V2_000056" "g.187130051del" "4/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.1123delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000766050" "3" "90" "4" "187130051" "187130051" "del" "0" "00004" "CYP4V2_000056" "g.187130051del" "4/2420 IRD families" "{PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}" "" "c.1123delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000785552" "3" "90" "4" "187122303" "187122315" "delins" "0" "00000" "CYP4V2_000078" "g.187122303_187122315delinsG" "" "{PMID:Liu 2015:25611614}" "" "c.802-8_810del17insGC" "" "Germline" "" "" "0" "" "" "g.186201149_186201161delinsG" "" "pathogenic (recessive)" "" "0000785553" "3" "90" "4" "187122303" "187122315" "delins" "0" "00000" "CYP4V2_000078" "g.187122303_187122315delinsG" "" "{PMID:Liu 2015:25611614}" "" "c.802-8_810del17insGC" "" "Germline" "" "" "0" "" "" "g.186201149_186201161delinsG" "" "pathogenic (recessive)" "" "0000785558" "3" "90" "4" "187122303" "187122315" "delins" "0" "00000" "CYP4V2_000078" "g.187122303_187122315delinsG" "" "{PMID:Liu 2015:25611614}" "" "c.802-8_810del17insGC" "" "Germline" "" "" "0" "" "" "g.186201149_186201161delinsG" "" "pathogenic (recessive)" "" "0000785562" "1" "90" "4" "187122303" "187122315" "delins" "0" "00000" "CYP4V2_000078" "g.187122303_187122315delinsG" "" "{PMID:Liu 2015:25611614}" "" "c.802-8_807del17insGC" "" "Germline" "" "" "0" "" "" "g.186201149_186201161delinsG" "" "pathogenic (recessive)" "" "0000785563" "1" "90" "4" "187122303" "187122315" "delins" "0" "00000" "CYP4V2_000078" "g.187122303_187122315delinsG" "" "{PMID:Liu 2015:25611614}" "" "c.802-8_807del17insGC" "" "Germline" "" "" "0" "" "" "g.186201149_186201161delinsG" "" "pathogenic (recessive)" "" "0000785564" "1" "90" "4" "187122303" "187122315" "delins" "0" "00000" "CYP4V2_000078" "g.187122303_187122315delinsG" "" "{PMID:Liu 2015:25611614}" "" "c.802-8_807del17insGC" "" "Germline" "" "" "0" "" "" "g.186201149_186201161delinsG" "" "pathogenic (recessive)" "" "0000785583" "2" "90" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Liu 2015:25611614}" "" "" "" "Germline" "" "" "0" "" "" "g.186205204A>C" "" "pathogenic (recessive)" "" "0000785584" "2" "90" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Liu 2015:25611614}" "" "" "" "Germline" "" "" "0" "" "" "g.186205204A>C" "" "pathogenic (recessive)" "" "0000785585" "2" "90" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Liu 2015:25611614}" "" "" "" "Germline" "" "" "0" "" "" "g.186205204A>C" "" "pathogenic (recessive)" "" "0000786437" "3" "90" "4" "187117196" "187117196" "subst" "0.000771661" "00000" "CYP4V2_000039" "g.187117196A>G" "" "{PMID:Consugar 2015:25412400}" "" "" "" "Germline" "yes" "" "0" "" "" "g.186196042A>G" "" "pathogenic (recessive)" "" "0000787629" "1" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000787631" "1" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000787654" "1" "70" "4" "187120130" "187120130" "subst" "2.0311E-5" "00000" "CYP4V2_000013" "g.187120130C>T" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.186198976C>T" "" "likely pathogenic" "" "0000787660" "1" "70" "4" "187122467" "187122467" "subst" "4.06075E-6" "00000" "CYP4V2_000017" "g.187122467C>T" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.186201313C>T" "" "likely pathogenic" "" "0000787666" "1" "70" "4" "187126393" "187126393" "subst" "0" "00000" "CYP4V2_000002" "g.187126393T>G" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.186205239T>G" "" "likely pathogenic" "" "0000787693" "1" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000787694" "3" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000787695" "3" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000787702" "2" "70" "4" "187122319" "187122319" "del" "5.68722E-5" "00000" "CYP4V2_000015" "g.187122319del" "" "0" "" "810delT" "" "Germline" "yes" "" "0" "" "" "g.186201165del" "" "likely pathogenic" "" "0000787704" "2" "70" "4" "187122319" "187122319" "del" "5.68722E-5" "00000" "CYP4V2_000015" "g.187122319del" "" "0" "" "810delT" "" "Germline" "yes" "" "0" "" "" "g.186201165del" "" "likely pathogenic" "" "0000787711" "2" "70" "4" "187122319" "187122319" "del" "5.68722E-5" "00000" "CYP4V2_000015" "g.187122319del" "" "0" "" "810delT" "" "Germline" "yes" "" "0" "" "" "g.186201165del" "" "likely pathogenic" "" "0000787713" "2" "70" "4" "187122319" "187122319" "del" "5.68722E-5" "00000" "CYP4V2_000015" "g.187122319del" "" "0" "" "810delT" "" "Germline" "yes" "" "0" "" "" "g.186201165del" "" "likely pathogenic" "" "0000787715" "2" "70" "4" "187120130" "187120130" "subst" "2.0311E-5" "00000" "CYP4V2_000013" "g.187120130C>T" "" "0" "" "" "" "Germline" "yes" "" "0" "" "" "g.186198976C>T" "" "likely pathogenic" "" "0000787729" "2" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "0" "" "" "" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000788366" "0" "50" "4" "187117196" "187117196" "subst" "0.000771661" "00000" "CYP4V2_000039" "g.187117196A>G" "" "{PMID:Katagiri 2014:25268133}" "" "A367G" "" "Germline" "" "rs149684063" "0" "" "" "g.186196042A>G" "" "VUS" "" "0000788400" "0" "50" "4" "187117196" "187117196" "subst" "0.000771661" "00000" "CYP4V2_000039" "g.187117196A>G" "" "{PMID:Katagiri 2014:25268133}" "" "A367G" "" "Germline" "" "rs149684063" "0" "" "" "g.186196042A>G" "" "VUS" "" "0000788518" "0" "50" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Katagiri 2014:25268133}" "" "A992C" "" "Germline" "" "rs199476197" "0" "" "" "g.186205204A>C" "" "VUS" "" "0000794098" "0" "70" "4" "187120110" "187120110" "subst" "0" "03508" "CYP4V2_000079" "g.187120110G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000794099" "0" "70" "4" "187122303" "187122319" "delins" "0" "03508" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000794245" "0" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "03508" "CYP4V2_000018" "g.187126358A>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000794246" "0" "70" "4" "187126386" "187126386" "subst" "4.06055E-6" "03508" "CYP4V2_000004" "g.187126386G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000794310" "0" "90" "4" "187113192" "187113192" "subst" "0" "00000" "CYP4V2_000080" "g.187113192G>T" "" "{PMID:Wang 2018:30029497}" "" "NM_207352.3:c.214+1G>T, NP_997235.3:p.?, NC_000004.11:g.187113192G>T" "" "Germline" "?" "" "0" "" "" "g.186192038G>T" "" "pathogenic" "ACMG" "0000794311" "0" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Wang 2018:30029497}" "" "NM_207352.3:c.1091-2A>G, NP_997235.3:p.?, NC_000004.11:g.187130017A>G" "" "Germline" "?" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000794312" "3" "90" "4" "187115652" "187115652" "subst" "0" "00000" "CYP4V2_000081" "g.187115652A>G" "" "{PMID:Wang 2018:30029497}" "" "NM_207352.3:c.215-2A>G, NP_997235.3:p.?, NC_000004.11:g.187115652A>G" "" "Germline" "?" "" "0" "" "" "g.186194498A>G" "" "pathogenic" "ACMG" "0000794313" "3" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Wang 2018:30029497}" "" "NM_207352.3:c.802-8_810delinsGC, NP_997235.3:p.?, NC_000004.11:g.187122303_187122319delinsGC" "" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "ACMG" "0000794314" "0" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Wang 2018:30029497}" "" "NM_207352.3:c.1091-2A>G, NP_997235.3:p.?, NC_000004.11:g.187130017A>G" "" "Germline" "?" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000794315" "0" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Wang 2018:30029497}" "" "NM_207352.3:c.802-8_810delinsGC, NP_997235.3:p.?, NC_000004.11:g.187122303_187122319delinsGC" "" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "ACMG" "0000794316" "3" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Wang 2018:30029497}" "" "NM_207352.3:c.1091-2A>G, NP_997235.3:p.?, NC_000004.11:g.187130017A>G" "" "Germline" "?" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000794317" "3" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Wang 2018:30029497}" "" "NM_207352.3:c.802-8_810delinsGC, NP_997235.3:p.?, NC_000004.11:g.187122303_187122319delinsGC" "" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "ACMG" "0000794318" "3" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Wang 2018:30029497}" "" "NM_207352.3:c.802-8_810delinsGC, NP_997235.3:p.?, NC_000004.11:g.187122303_187122319delinsGC" "" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "ACMG" "0000795953" "0" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Chen-2013:23462753}" "" "c.283G>A(p.Gly95Arg)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796022" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Fu-2013:23661369}" "" "c.802-8_810del17insGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796023" "0" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Fu-2013:23661369}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796024" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Fu-2013:23661369}" "" "c.802-8_810del17insGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796041" "0" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Fu-2013:23661369}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796042" "0" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Fu-2013:23661369}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796043" "0" "70" "4" "187130417" "187130417" "subst" "0" "00000" "CYP4V2_000082" "g.187130417A>G" "" "{PMID:Fu-2013:23661369}" "" "c.1396A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796910" "0" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Wang-2014:24154662}" "" "c.1091-2A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796911" "0" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Wang-2014:24154662}" "" "c.802-8_810del17insGC" "NP_000530.1" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796912" "0" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Wang-2014:24154662}" "" "c.1091-2A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796913" "0" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Wang-2014:24154662}" "" "c.802-8_810del17insGC" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796914" "0" "90" "4" "187126386" "187126386" "subst" "4.06055E-6" "00000" "CYP4V2_000004" "g.187126386G>A" "" "{PMID:Wang-2014:24154662}" "" "c.1020G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796915" "0" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Wang-2014:24154662}" "" "c.802-8_810del17insGC" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796920" "0" "90" "4" "187126393" "187126393" "subst" "0" "00000" "CYP4V2_000002" "g.187126393T>G" "" "{PMID:Wang-2014:24154662}" "" "c.1027T>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796921" "0" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Wang-2014:24154662}" "" "c.802-8_810del17insGC" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000801601" "0" "90" "4" "187122303" "187122316" "del" "5.688E-5" "01943" "CYP4V2_000006" "g.187122303_187122316del" "" "" "" "CYP4V2(NM_207352.3):c.802-8_807delTCATACAGGTCATC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000801602" "0" "90" "4" "187122319" "187122319" "del" "5.68722E-5" "01943" "CYP4V2_000015" "g.187122319del" "" "" "" "CYP4V2(NM_207352.3):c.810delT (p.E271Nfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000801603" "0" "10" "4" "187130042" "187130042" "subst" "0.0014253" "02330" "CYP4V2_000083" "g.187130042G>A" "" "" "" "CYP4V2(NM_207352.4):c.1114G>A (p.V372I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000801604" "0" "50" "4" "187130112" "187130112" "subst" "4.87266E-5" "01943" "CYP4V2_000084" "g.187130112T>C" "" "" "" "CYP4V2(NM_207352.3):c.1184T>C (p.V395A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000811880" "0" "70" "2" "187115722" "187115722" "subst" "0" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Gao 2019:31054281}" "" "c.283G>A, p.Gly95Arg" "heterozygous" "Germline" "?" "" "0" "" "" "g.186194568G>A" "" "likely pathogenic" "" "0000812556" "3" "90" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Wang 2019:31106028}" "" "c.802-8_810delins17, ---" "error in annotation, no inserted nucleotides mentioned," "Germline" "?" "" "0" "" "" "g.?" "" "pathogenic" "" "0000812560" "0" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Wang 2019:31106028}" "" "c.1091-2A>G, p.?" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "" "0000812561" "0" "90" "4" "187122319" "187122319" "del" "5.68722E-5" "00000" "CYP4V2_000015" "g.187122319del" "" "{PMID:Wang 2019:31106028}" "" "c.810del, p.(Glu271Asnfs*6)" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186201165del" "" "pathogenic" "" "0000812670" "0" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Wang 2019:31106028}" "" "c.1091-2A>G, p.?" "single heterozygous variant in a recessive gene" "Germline" "?" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "" "0000812672" "3" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Wang 2019:31106028}" "" "c.802-8_810delins, ---" "error in annotation, probably it is a known mutation c.802-8_810delinsGC instead of c.802-8_810delins," "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000812698" "0" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Wang 2019:31106028}" "" "c.802-8_810delins, ---" "error in annotation, probably it is a known mutation c.802-8_810delinsGC instead of c.802-8_810delins," "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000812699" "0" "70" "4" "187130115" "187130115" "subst" "4.06058E-6" "00000" "CYP4V2_000022" "g.187130115C>T" "" "{PMID:Wang 2019:31106028}" "" "c.1187C>T, p.(Pro396Leu)" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186208961C>T" "" "likely pathogenic" "" "0000812772" "0" "90" "4" "187122319" "187122319" "del" "5.68722E-5" "00000" "CYP4V2_000015" "g.187122319del" "" "{PMID:Wang 2019:31106028}" "" "c.810del, p.(Glu271Asnfs*6)" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186201165del" "" "pathogenic" "" "0000812773" "0" "90" "4" "187131661" "187131661" "del" "0" "00000" "CYP4V2_000031" "g.187131661del" "" "{PMID:Wang 2019:31106028}" "" "c.1444del, p.(Ser482Argfs*4)" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186210507del" "" "pathogenic" "" "0000812804" "0" "90" "4" "187122319" "187122319" "del" "5.68722E-5" "00000" "CYP4V2_000015" "g.187122319del" "" "{PMID:Wang 2019:31106028}" "" "c.810del, p.(Glu271Asnfs*6)" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186201165del" "" "pathogenic" "" "0000812805" "0" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Wang 2019:31106028}" "" "c.283G>A, p.(Gly95Arg)" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186194568G>A" "" "likely pathogenic" "" "0000814258" "1" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Chen 2020:31872526}" "" "CYP4V2:NM_207352:exon8:c.992A>C:p.H331P" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000814259" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Chen 2020:31872526}" "" "CYP4V2:NM_207352:exon7:c.802-8_810del17insGC" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000814261" "1" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Chen 2020:31872526}" "" "CYP4V2:NM_207352:exon8:c.992A>C:p.H331P" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000814275" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Chen 2020:31872526}" "" "CYP4V2:NM_207352:exon7:c.802-8_810del17insGC" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000814276" "1" "70" "4" "187117196" "187117196" "subst" "0.000771661" "00000" "CYP4V2_000039" "g.187117196A>G" "" "{PMID:Chen 2020:31872526}" "" "CYP4V2:NM_207352:exon3:c.367A>G:p.M123V" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186196042A>G" "" "likely pathogenic" "" "0000814289" "2" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Chen 2020:31872526}" "" "CYP4V2:splicing:c.1091-2A>G" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000814290" "2" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Chen 2020:31872526}" "" "CYP4V2:splicing:c.1091-2A>G" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000814292" "2" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Chen 2020:31872526}" "" "CYP4V2:splicing:c.1091-2A>G" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000814300" "2" "70" "4" "187122467" "187122467" "subst" "4.06075E-6" "00000" "CYP4V2_000017" "g.187122467C>T" "" "{PMID:Chen 2020:31872526}" "" "CYP4V2:NM_207352:exon7:c.958C>T:p.R320X" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186201313C>T" "" "likely pathogenic" "" "0000814301" "2" "70" "4" "187115676" "187115676" "subst" "0.000263951" "00000" "CYP4V2_000035" "g.187115676G>T" "" "{PMID:Chen 2020:31872526}" "" "CYP4V2:NM_207352:exon2:c.237G>T:p.E79D" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186194522G>T" "" "likely pathogenic" "" "0000814754" "3" "90" "4" "187122305" "187122319" "del" "0" "00000" "CYP4V2_000076" "g.187122305_187122319del" "" "{PMID:Dan 2020:31960602}" "" "CYP4V2 c.802-6_810delATACAGGTCATCGCT, -" "homozygous" "Germline" "?" "" "0" "" "" "g.186201151_186201165del" "" "pathogenic" "ACMG" "0000814762" "3" "90" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Dan 2020:31960602}" "" "CYP4V2 c.992A>C, p.(His331Pro)" "homozygous" "Germline" "yes" "" "0" "" "" "g.186205204A>C" "" "pathogenic" "ACMG" "0000814767" "0" "90" "4" "187122305" "187122319" "del" "0" "00000" "CYP4V2_000076" "g.187122305_187122319del" "" "{PMID:Dan 2020:31960602}" "" "CYP4V2 c.802-6_810delATACAGGTCATCGCT, -" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.186201151_186201165del" "" "pathogenic" "ACMG" "0000814768" "0" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Dan 2020:31960602}" "" "CYP4V2 c.1091-2A>G, -" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000814777" "0" "50" "4" "187117242" "187117242" "subst" "0" "00000" "CYP4V2_000085" "g.187117242G>A" "" "{PMID:Dan 2020:31960602}" "" "CYP4V2 c.413G>A, p.(Ser138Asn)" "heterozygous" "Germline" "?" "" "0" "" "" "g.186196088G>A" "" "VUS" "ACMG" "0000814803" "0" "70" "4" "187130127" "187130127" "subst" "5.68505E-5" "00000" "CYP4V2_000024" "g.187130127G>A" "" "{PMID:Dan 2020:31960602}" "" "CYP4V2 c.1199G>A, p.(Arg400His)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.186208973G>A" "" "likely pathogenic" "ACMG" "0000814804" "0" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Dan 2020:31960602}" "" "CYP4V2 c.802-8_810delTCATACAGGTCATCGCGinsGC, indel" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "ACMG" "0000814810" "0" "90" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Dan 2020:31960602}" "" "CYP4V2 c.992A>C, p.(His331Pro)" "heterozygous" "Germline" "?" "" "0" "" "" "g.186205204A>C" "" "pathogenic" "ACMG" "0000817331" "0" "90" "4" "186194568" "186194568" "subst" "0" "00000" "CYP4V2_000010" "g.186194568G>A" "" "{PMID:Sun 2020:32100970}" "" "CYP4V2 c.283G > A, p.Gly95Arg, heterozygous" "" "Unknown" "?" "" "0" "" "" "g.186194568G>A" "" "pathogenic" "ACMG" "0000817620" "1" "70" "4" "187126457" "187126457" "subst" "4.06055E-6" "00000" "CYP4V2_000086" "g.187126457G>T" "" "{PMID:Zanolli 2020:32141364}" "" "CYP4V2 c.1090+1G>T; c.1480C>T" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205303G>T" "" "likely pathogenic" "" "0000817621" "2" "70" "4" "187131697" "187131697" "subst" "0" "00000" "CYP4V2_000087" "g.187131697C>T" "" "{PMID:Zanolli 2020:32141364}" "" "CYP4V2 c.1090+1G>T; c.1480C>T" "no protein change given, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186210543C>T" "" "likely pathogenic" "" "0000818989" "1" "30" "4" "187112973" "187131800" "dup" "0" "00000" "CYP4V2_000088" "g.(?_187112973)_(187131800_?)dup" "" "{PMID:Ellingsford 2018:29074561}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000819866" "1" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CYP4V2, variant 1: c.283G>A/p.G95R, variant 2: c.1198C>T/p.R400C" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186194568G>A" "" "likely pathogenic" "" "0000819867" "1" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CYP4V2, variant 1: c.283G>A/p.G95R, variant 2: c.1198C>T/p.R400C" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186194568G>A" "" "likely pathogenic" "" "0000819969" "1" "70" "4" "187117229" "187117229" "subst" "0.00019902" "00000" "CYP4V2_000038" "g.187117229G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CYP4V2, variant 1: c.400G>T/p.G134*, variant 2: c.1198C>T/p.R400C" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186196075G>T" "" "likely pathogenic" "" "0000819972" "1" "70" "4" "187130126" "187130126" "subst" "4.87282E-5" "00000" "CYP4V2_000023" "g.187130126C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CYP4V2, variant 1: c.1198C>T/p.R400C, variant 2: c.1198C>T/p.R400C" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.186208972C>T" "" "likely pathogenic" "" "0000820741" "1" "70" "4" "187130126" "187130126" "subst" "4.87282E-5" "00000" "CYP4V2_000023" "g.187130126C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CYP4V2, variant 1: c.283G>A/p.G95R, variant 2: c.1198C>T/p.R400C" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208972C>T" "" "likely pathogenic" "" "0000820742" "1" "70" "4" "187130126" "187130126" "subst" "4.87282E-5" "00000" "CYP4V2_000023" "g.187130126C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CYP4V2, variant 1: c.283G>A/p.G95R, variant 2: c.1198C>T/p.R400C" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208972C>T" "" "likely pathogenic" "" "0000820772" "1" "70" "4" "187130126" "187130126" "subst" "4.87282E-5" "00000" "CYP4V2_000023" "g.187130126C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CYP4V2, variant 1: c.400G>T/p.G134*, variant 2: c.1198C>T/p.R400C" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208972C>T" "" "likely pathogenic" "" "0000821240" "3" "70" "4" "187113174" "187113174" "subst" "4.22735E-5" "00000" "CYP4V2_000009" "g.187113174T>G" "" "{PMID:Turro 2020:32581362}" "" "CYP4V2 c.197T>G, p.Met66Arg" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.186192020T>G" "" "likely pathogenic" "" "0000822443" "1" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.283G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000822444" "1" "70" "4" "187130126" "187130126" "subst" "4.87282E-5" "00000" "CYP4V2_000023" "g.187130126C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.1198C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000824658" "3" "70" "4" "187122319" "187122319" "del" "5.68722E-5" "00000" "CYP4V2_000015" "g.187122319del" "" "{PMID:Ma 2021:33691693}" "" "CYP4V2 c.810delT, p.A270fs" "error in annotation, this mutation causes p.Glu271AsnfsTer6 and not p.Ala270fs; marked as causative, homozygous" "Unknown" "?" "" "0" "" "" "g.186201165del" "" "likely pathogenic" "ACMG" "0000824722" "0" "70" "4" "187118251" "187118251" "del" "0" "00000" "CYP4V2_000089" "g.187118251del" "" "{PMID:Ma 2021:33691693}" "" "CYP4V2 c.565delT, p.F189fs" "NM_207352.3:c.565delT automapped to NM_207352.3:c.571delT, error in annotation, this mutation causes p.Tyr191ThrfsTer7 and not p.Phe189fs; marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.186197097del" "" "likely pathogenic" "ACMG" "0000824797" "0" "50" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Ma 2021:33691693}" "" "CYP4V2 c.A992C, p.H331P" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "VUS" "ACMG" "0000825675" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000090" "g.187122303_187122319delinsGT" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825677" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000090" "g.187122303_187122319delinsGT" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825678" "0" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Liu-2020:33090715}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825686" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000090" "g.187122303_187122319delinsGT" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825687" "0" "70" "4" "187130126" "187130126" "subst" "4.87282E-5" "00000" "CYP4V2_000023" "g.187130126C>T" "" "{PMID:Liu-2020:33090715}" "" "c.1198C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825689" "0" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Liu-2020:33090715}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825690" "0" "70" "4" "187130318" "187130318" "subst" "0" "00000" "CYP4V2_000104" "g.187130318T>C" "" "{PMID:Liu-2020:33090715}" "" "c.1297T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825691" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825692" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825693" "0" "70" "4" "187130096" "187130096" "subst" "2.84245E-5" "00000" "CYP4V2_000019" "g.187130096C>T" "" "{PMID:Liu-2020:33090715}" "" "c.1168C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825713" "0" "70" "4" "187126358" "187126358" "subst" "0" "00000" "CYP4V2_000100" "g.187126358A>G" "" "{PMID:Liu-2020:33090715}" "" "c.992A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825714" "0" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Liu-2020:33090715}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825764" "0" "70" "4" "187113192" "187113192" "subst" "0" "00000" "CYP4V2_000080" "g.187113192G>T" "" "{PMID:Liu-2020:33090715}" "" "c.214+1G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825765" "0" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Liu-2020:33090715}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825766" "3" "70" "4" "187115652" "187115652" "subst" "0" "00000" "CYP4V2_000081" "g.187115652A>G" "" "{PMID:Liu-2020:33090715}" "" "c.215-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825771" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825772" "0" "70" "4" "187126358" "187126358" "subst" "0" "00000" "CYP4V2_000100" "g.187126358A>G" "" "{PMID:Liu-2020:33090715}" "" "c.992A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825774" "3" "70" "4" "187117164" "187117164" "subst" "0" "00000" "CYP4V2_000095" "g.187117164T>G" "" "{PMID:Liu-2020:33090715}" "" "c.335T>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825777" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000090" "g.187122303_187122319delinsGT" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825778" "0" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Liu-2020:33090715}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825780" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825789" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000090" "g.187122303_187122319delinsGT" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825790" "0" "70" "4" "187131761" "187131761" "subst" "0" "00000" "CYP4V2_000105" "g.187131761T>G" "" "{PMID:Liu-2020:33090715}" "" "c.1544T>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825791" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825793" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000090" "g.187122303_187122319delinsGT" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825794" "0" "70" "4" "187118090" "187118094" "delins" "0" "00000" "CYP4V2_000098" "g.187118090_187118094delinsA" "" "{PMID:Liu-2020:33090715}" "" "c.414-4_414del4bpinsA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825800" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825801" "3" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Liu-2020:33090715}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825802" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825804" "0" "70" "4" "187115676" "187115676" "subst" "0.000263951" "00000" "CYP4V2_000035" "g.187115676G>T" "" "{PMID:Liu-2020:33090715}" "" "c.237G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825805" "0" "70" "4" "187117196" "187117196" "subst" "0.000771661" "00000" "CYP4V2_000039" "g.187117196A>G" "" "{PMID:Liu-2020:33090715}" "" "c.367A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825807" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000090" "g.187122303_187122319delinsGT" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825809" "0" "70" "4" "187122467" "187122467" "subst" "4.06075E-6" "00000" "CYP4V2_000017" "g.187122467C>T" "" "{PMID:Liu-2020:33090715}" "" "c.958C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825810" "0" "70" "4" "187126358" "187126358" "subst" "0" "00000" "CYP4V2_000100" "g.187126358A>G" "" "{PMID:Liu-2020:33090715}" "" "c.992A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825811" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825812" "0" "70" "4" "187126358" "187126358" "subst" "0" "00000" "CYP4V2_000100" "g.187126358A>G" "" "{PMID:Liu-2020:33090715}" "" "c.992A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825823" "0" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Liu-2020:33090715}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825824" "0" "70" "4" "187112673" "187134618" "del" "0" "00000" "CYP4V2_000091" "g.187112673_187134618del" "" "{PMID:Liu-2020:33090715}" "" "E1-11del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825825" "0" "70" "4" "187122467" "187122467" "subst" "4.06075E-6" "00000" "CYP4V2_000017" "g.187122467C>T" "" "{PMID:Liu-2020:33090715}" "" "c.958C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825826" "0" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Liu-2020:33090715}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825830" "0" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Liu-2020:33090715}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825831" "0" "70" "4" "187113192" "187113192" "subst" "0" "00000" "CYP4V2_000094" "g.187113192G>A" "" "{PMID:Liu-2020:33090715}" "" "c.214+1G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825832" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825833" "0" "70" "4" "187126358" "187126358" "subst" "0" "00000" "CYP4V2_000100" "g.187126358A>G" "" "{PMID:Liu-2020:33090715}" "" "c.992A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825834" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825837" "0" "70" "4" "187126428" "187126428" "dup" "0" "00000" "CYP4V2_000101" "g.187126428dup" "" "{PMID:Liu-2020:33090715}" "" "c.1062dupA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825838" "0" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Liu-2020:33090715}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825839" "3" "70" "4" "187126358" "187126358" "subst" "0" "00000" "CYP4V2_000100" "g.187126358A>G" "" "{PMID:Liu-2020:33090715}" "" "c.992A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825844" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825847" "0" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Liu-2020:33090715}" "" "c.283G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825848" "0" "70" "4" "187120130" "187120130" "subst" "2.0311E-5" "00000" "CYP4V2_000013" "g.187120130C>T" "" "{PMID:Liu-2020:33090715}" "" "c.694C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825853" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825854" "0" "70" "4" "187130376" "187130376" "subst" "9.74706E-5" "00000" "CYP4V2_000028" "g.187130376G>A" "" "{PMID:Liu-2020:33090715}" "" "c.1355G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825865" "0" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Liu-2020:33090715}" "" "c.283G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825866" "0" "70" "4" "187126428" "187126428" "dup" "0" "00000" "CYP4V2_000101" "g.187126428dup" "" "{PMID:Liu-2020:33090715}" "" "c.1062dupA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825870" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825872" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825873" "3" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Liu-2020:33090715}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825886" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825889" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825891" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825910" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825911" "0" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Liu-2020:33090715}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825918" "3" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Liu-2020:33090715}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825925" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825926" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825954" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825955" "0" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Liu-2020:33090715}" "" "c.283G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825963" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825964" "0" "70" "4" "187126358" "187126358" "subst" "0" "00000" "CYP4V2_000100" "g.187126358A>G" "" "{PMID:Liu-2020:33090715}" "" "c.992A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825988" "0" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Liu-2020:33090715}" "" "c.283G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825989" "0" "70" "4" "187126358" "187126358" "subst" "0" "00000" "CYP4V2_000100" "g.187126358A>G" "" "{PMID:Liu-2020:33090715}" "" "c.992A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825991" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825992" "0" "70" "4" "187115658" "187115658" "subst" "4.06134E-6" "00000" "CYP4V2_000073" "g.187115658T>A" "" "{PMID:Liu-2020:33090715}" "" "c.219T>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826003" "0" "70" "4" "187113042" "187113042" "subst" "0" "00000" "CYP4V2_000093" "g.187113042T>A" "" "{PMID:Liu-2020:33090715}" "" "c.65T>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826004" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826009" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826037" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802_8-810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826038" "0" "70" "4" "187126386" "187126386" "subst" "4.06055E-6" "00000" "CYP4V2_000004" "g.187126386G>A" "" "{PMID:Liu-2020:33090715}" "" "c.1020G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826039" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000090" "g.187122303_187122319delinsGT" "" "{PMID:Liu-2020:33090715}" "" "c.802_8-810del17bpinsGT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826040" "0" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Liu-2020:33090715}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826060" "3" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Liu-2020:33090715}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826071" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802_8-810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826081" "0" "70" "4" "187130097" "187130097" "subst" "2.84243E-5" "00000" "CYP4V2_000020" "g.187130097G>A" "" "{PMID:Liu-2020:33090715}" "" "c.G1169A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826082" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000090" "g.187122303_187122319delinsGT" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826097" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826114" "3" "70" "4" "187130097" "187130097" "subst" "2.84243E-5" "00000" "CYP4V2_000020" "g.187130097G>A" "" "{PMID:Liu-2020:33090715}" "" "c.1169G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826120" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826167" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826168" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826174" "0" "70" "4" "187130127" "187130127" "subst" "5.68505E-5" "00000" "CYP4V2_000024" "g.187130127G>A" "" "{PMID:Liu-2020:33090715}" "" "c.1199G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826175" "0" "70" "4" "187126358" "187126358" "subst" "0" "00000" "CYP4V2_000100" "g.187126358A>G" "" "{PMID:Liu-2020:33090715}" "" "c.992A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826203" "0" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Liu-2020:33090715}" "" "c.283G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826204" "0" "70" "4" "187126358" "187126358" "subst" "0" "00000" "CYP4V2_000100" "g.187126358A>G" "" "{PMID:Liu-2020:33090715}" "" "c.992A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826208" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826213" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000090" "g.187122303_187122319delinsGT" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826214" "0" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Liu-2020:33090715}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826215" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826216" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826225" "0" "70" "4" "187115676" "187115676" "subst" "0.000263951" "00000" "CYP4V2_000035" "g.187115676G>T" "" "{PMID:Liu-2020:33090715}" "" "c.237G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826226" "0" "70" "4" "187117196" "187117196" "subst" "0.000771661" "00000" "CYP4V2_000039" "g.187117196A>G" "" "{PMID:Liu-2020:33090715}" "" "c.367A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826229" "0" "70" "4" "187115658" "187115658" "subst" "4.06134E-6" "00000" "CYP4V2_000073" "g.187115658T>A" "" "{PMID:Liu-2020:33090715}" "" "c.219T>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826230" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826231" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826241" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826243" "0" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Liu-2020:33090715}" "" "c.283G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826244" "0" "70" "4" "187117235" "187117235" "subst" "8.12315E-6" "00000" "CYP4V2_000097" "g.187117235C>T" "" "{PMID:Liu-2020:33090715}" "" "c.406C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826245" "0" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Liu-2020:33090715}" "" "c.283G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826246" "0" "70" "4" "187126358" "187126358" "subst" "0" "00000" "CYP4V2_000100" "g.187126358A>G" "" "{PMID:Liu-2020:33090715}" "" "c.992A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826247" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826256" "0" "70" "4" "187112987" "187112987" "del" "0" "00000" "CYP4V2_000092" "g.187112987del" "" "{PMID:Liu-2020:33090715}" "" "c.10delC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826257" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826258" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826259" "0" "70" "4" "187130097" "187130097" "subst" "2.84243E-5" "00000" "CYP4V2_000020" "g.187130097G>A" "" "{PMID:Liu-2020:33090715}" "" "c.1169G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826260" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826261" "0" "70" "4" "187130097" "187130097" "subst" "2.84243E-5" "00000" "CYP4V2_000020" "g.187130097G>A" "" "{PMID:Liu-2020:33090715}" "" "c.1169G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826265" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826266" "0" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Liu-2020:33090715}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826268" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826269" "0" "70" "4" "187126428" "187126428" "dup" "0" "00000" "CYP4V2_000101" "g.187126428dup" "" "{PMID:Liu-2020:33090715}" "" "c.1062dupA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826283" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826286" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826287" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826288" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826289" "0" "70" "4" "187130126" "187130126" "subst" "0" "00000" "CYP4V2_000103" "g.187130126C>G" "" "{PMID:Liu-2020:33090715}" "" "c.1198C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826291" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826292" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826293" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826294" "0" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Liu-2020:33090715}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826299" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826300" "0" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Liu-2020:33090715}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826304" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826305" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826306" "3" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Liu-2020:33090715}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826307" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826308" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826309" "0" "70" "4" "187126358" "187126358" "subst" "0" "00000" "CYP4V2_000100" "g.187126358A>G" "" "{PMID:Liu-2020:33090715}" "" "c.992A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826313" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826314" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826319" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826329" "0" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Liu-2020:33090715}" "" "c.283G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826330" "0" "70" "4" "187130318" "187130318" "subst" "0" "00000" "CYP4V2_000104" "g.187130318T>C" "" "{PMID:Liu-2020:33090715}" "" "c.1297T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826340" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826345" "3" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Liu-2020:33090715}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826349" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826350" "0" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Liu-2020:33090715}" "" "c.1091-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826359" "0" "70" "4" "187117191" "187117191" "subst" "4.06157E-6" "00000" "CYP4V2_000096" "g.187117191C>A" "" "{PMID:Liu-2020:33090715}" "" "c.362C>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826360" "0" "70" "4" "187120216" "187120216" "subst" "8.1242E-5" "00000" "CYP4V2_000059" "g.187120216C>G" "" "{PMID:Liu-2020:33090715}" "" "c.780C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826377" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826378" "0" "70" "4" "187120239" "187120239" "subst" "0" "00000" "CYP4V2_000099" "g.187120239T>C" "" "{PMID:Liu-2020:33090715}" "" "c.801+2T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826379" "0" "70" "4" "187126358" "187126358" "subst" "0" "00000" "CYP4V2_000100" "g.187126358A>G" "" "{PMID:Liu-2020:33090715}" "" "c.992A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826398" "0" "70" "4" "187126358" "187126358" "subst" "0" "00000" "CYP4V2_000100" "g.187126358A>G" "" "{PMID:Liu-2020:33090715}" "" "c.992A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826399" "0" "70" "4" "187126428" "187126428" "dup" "0" "00000" "CYP4V2_000101" "g.187126428dup" "" "{PMID:Liu-2020:33090715}" "" "c.1062dupA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826400" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Liu-2020:33090715}" "" "c.802-8_810del17bpinsGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826404" "3" "70" "4" "187126358" "187126358" "subst" "0" "00000" "CYP4V2_000100" "g.187126358A>G" "" "{PMID:Liu-2020:33090715}" "" "c.992A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000827610" "0" "90" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Kim 2021:33946315}" "" "CYP4V2 c.809_810C" "error in annotation, actual variant unknown, heterozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "pathogenic" "ACMG" "0000827620" "0" "70" "4" "187126438" "187126438" "subst" "4.06055E-6" "00000" "CYP4V2_000102" "g.187126438G>T" "" "{PMID:Kim 2021:33946315}" "" "CYP4V2 c.1072G>T, p.(Glu358Ter)" "homozygous" "Unknown" "?" "" "0" "" "" "g.186205284G>T" "" "likely pathogenic" "ACMG" "0000827623" "0" "90" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Kim 2021:33946315}" "" "CYP4V2 c.809_810C" "error in annotation, actual variant unknown, homozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "pathogenic" "ACMG" "0000827624" "0" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Kim 2021:33946315}" "" "CYP4V2 c.802_807A" "error in annotation, actual variant unknown, heterozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "ACMG" "0000827625" "0" "70" "4" "187120110" "187120110" "subst" "0" "00000" "CYP4V2_000079" "g.187120110G>A" "" "{PMID:Kim 2021:33946315}" "" "CYP4V2 c.675-1G>A, p.(?)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.186198956G>A" "" "likely pathogenic" "ACMG" "0000827626" "0" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Kim 2021:33946315}" "" "CYP4V2 c.992A>C, p.(His331Pro)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "ACMG" "0000827629" "0" "50" "4" "187115658" "187115658" "subst" "4.06134E-6" "00000" "CYP4V2_000073" "g.187115658T>A" "" "{PMID:Kim 2021:33946315}" "" "CYP4V2 c.219T>A, p.(Phe73Leu)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.186194504T>A" "" "VUS" "ACMG" "0000827630" "0" "70" "4" "187122303" "187122316" "del" "5.688E-5" "00000" "CYP4V2_000006" "g.187122303_187122316del" "" "{PMID:Kim 2021:33946315}" "" "CYP4V2 c.802-8_807del, p.(?)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201162del" "" "likely pathogenic" "ACMG" "0000828317" "3" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Shen 2021:34130719}" "" "CYP4V2 c.1091‑2A > G, splici" "homozygous, no ACMG classification" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000828739" "0" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Chen 2021:43360855}" "" "CYP4V2 c.802-8_810delinsGC(;)1091-2A>G, V1: c.802-8_810delinsGC," "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "ACMG" "0000828740" "0" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Chen 2021:43360855}" "" "CYP4V2 c.802-8_810delinsGC(;)1091-2A>G, V1: c.802-8_810delinsGC," "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "ACMG" "0000828741" "0" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Chen 2021:43360855}" "" "CYP4V2 c.802-8_810delinsGC(;)1091-2A>G, V1: c.802-8_810delinsGC," "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "ACMG" "0000828742" "0" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Chen 2021:43360855}" "" "CYP4V2 c.802-8_810delinsGC(;)1091-2A>G, V1: c.802-8_810delinsGC," "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "ACMG" "0000828745" "1" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Chen 2021:43360855}" "" "CYP4V2 c.[802-8_810delinsGC];[1199G>A], V1: c.802-8_810delinsGC," "alleles in trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "ACMG" "0000828753" "0" "70" "4" "187130127" "187130127" "subst" "5.68505E-5" "00000" "CYP4V2_000024" "g.187130127G>A" "" "{PMID:Chen 2021:43360855}" "" "CYP4V2 c.1199G>A(;)1507G>C, V1: c.1199G>A, (p.Arg400His)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.186208973G>A" "" "likely pathogenic" "ACMG" "0000828780" "0" "70" "4" "187115676" "187115676" "subst" "0.000263951" "00000" "CYP4V2_000035" "g.187115676G>T" "" "{PMID:Chen 2021:43360855}" "" "CYP4V2 c.237G>T(;)367A>G, V1: c.237G>T, (p.Glu79Asp)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.186194522G>T" "" "likely pathogenic" "ACMG" "0000828826" "0" "90" "4" "187120130" "187120130" "subst" "2.0311E-5" "00000" "CYP4V2_000013" "g.187120130C>T" "" "{PMID:Chen 2021:43360855}" "" "CYP4V2 c.694C>T(;)802-8_810delinsGC, V1: c.694C>T, (p.Arg232Ter)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.186198976C>T" "" "pathogenic" "ACMG" "0000828831" "0" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsG" "" "{PMID:Chen 2021:43360855}" "" "CYP4V2 c.802-8_810delinsG(;)992A>C, V1: c.802-8_810delinsG," "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsG" "" "pathogenic" "ACMG" "0000828860" "3" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsG" "" "{PMID:Chen 2021:43360855}" "" "CYP4V2 c.[802-8_810delinsG];[802-8_810delinsG], V1: c.802-8_810delinsG," "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsG" "" "pathogenic" "ACMG" "0000828907" "3" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Chen 2021:43360855}" "" "CYP4V2 c.[1091-2A>G];[1091-2A>G], V1: c.1091-2A>G," "homozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000828933" "3" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Chen 2021:43360855}" "" "CYP4V2 c.[802-8_810delinsG];[C802-8_810delinsGC], V1: c.802-8_810delinsGC," "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "ACMG" "0000828944" "0" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Chen 2021:43360855}" "" "CYP4V2 c.802-8_810delinsGC(;)1091-2A>G, V2: c.1091-2A>G," "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000828945" "0" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Chen 2021:43360855}" "" "CYP4V2 c.802-8_810delinsGC(;)1091-2A>G, V2: c.1091-2A>G," "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000828946" "0" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Chen 2021:43360855}" "" "CYP4V2 c.802-8_810delinsGC(;)1091-2A>G, V2: c.1091-2A>G," "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000828947" "0" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Chen 2021:43360855}" "" "CYP4V2 c.802-8_810delinsGC(;)1091-2A>G, V2: c.1091-2A>G," "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000828950" "2" "70" "4" "187130127" "187130127" "subst" "5.68505E-5" "00000" "CYP4V2_000024" "g.187130127G>A" "" "{PMID:Chen 2021:43360855}" "" "CYP4V2 c.[802-8_810delinsGC];[1199G>A], V2: c.1199G>A, (p.Arg400His)" "alleles in trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.186208973G>A" "" "likely pathogenic" "ACMG" "0000828958" "0" "70" "4" "187131724" "187131724" "subst" "2.03082E-5" "00000" "CYP4V2_000106" "g.187131724G>C" "" "{PMID:Chen 2021:43360855}" "" "CYP4V2 c.1199G>A(;)1507G>C, V2: c.1507G>C, (p.Gly503Arg)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.186210570G>C" "" "likely pathogenic" "ACMG" "0000828985" "0" "70" "4" "187117196" "187117196" "subst" "0.000771661" "00000" "CYP4V2_000039" "g.187117196A>G" "" "{PMID:Chen 2021:43360855}" "" "CYP4V2 c.237G>T(;)367A>G, V2: c.367A>G, (p.Met123Val)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.186196042A>G" "" "likely pathogenic" "ACMG" "0000829031" "0" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Chen 2021:43360855}" "" "CYP4V2 c.694C>T(;)802-8_810delinsGC, V2: c.802-8_810delinsGC," "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "ACMG" "0000829036" "0" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Chen 2021:43360855}" "" "CYP4V2 c.802-8_810delinsG(;)992A>C, V2: c.992A>C, (p.His331Pro)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "ACMG" "0000847900" "3" "70" "4" "187122303" "187122319" "del" "0" "00000" "CYP4V2_000107" "g.187122303_187122319dellinsGC" "" "{PMID:Lin 2005:15937078}" "" "CYP4V2 IVS6-8_810delinsGC, Skip exon 7" "homozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165dellinsGC" "" "likely pathogenic" "" "0000847901" "3" "70" "4" "187122303" "187122319" "del" "0" "00000" "CYP4V2_000107" "g.187122303_187122319dellinsGC" "" "{PMID:Lin 2005:15937078}" "" "CYP4V2 IVS6-8_810delinsGC, Skip exon 7" "homozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165dellinsGC" "" "likely pathogenic" "" "0000847902" "3" "70" "4" "187122303" "187122319" "del" "0" "00000" "CYP4V2_000107" "g.187122303_187122319dellinsGC" "" "{PMID:Lin 2005:15937078}" "" "CYP4V2 IVS6-8_810delinsGC, Skip exon 7" "homozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165dellinsGC" "" "likely pathogenic" "" "0000847903" "3" "70" "4" "187122303" "187122319" "del" "0" "00000" "CYP4V2_000107" "g.187122303_187122319dellinsGC" "" "{PMID:Lin 2005:15937078}" "" "CYP4V2 IVS6-8_810delinsGC, Skip exon 7" "homozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165dellinsGC" "" "likely pathogenic" "" "0000847904" "3" "70" "4" "187122303" "187122319" "del" "0" "00000" "CYP4V2_000107" "g.187122303_187122319dellinsGC" "" "{PMID:Lin 2005:15937078}" "" "CYP4V2 IVS6-8_810delinsGC, Skip exon 7" "homozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165dellinsGC" "" "likely pathogenic" "" "0000847905" "3" "70" "4" "187122303" "187122319" "del" "0" "00000" "CYP4V2_000107" "g.187122303_187122319dellinsGC" "" "{PMID:Lin 2005:15937078}" "" "CYP4V2 IVS6-8_810delinsGC, Skip exon 7" "homozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165dellinsGC" "" "likely pathogenic" "" "0000847906" "3" "70" "4" "187122303" "187122319" "del" "0" "00000" "CYP4V2_000107" "g.187122303_187122319dellinsGC" "" "{PMID:Lin 2005:15937078}" "" "CYP4V2 IVS6-8_810delinsGC, Skip exon 7" "homozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165dellinsGC" "" "likely pathogenic" "" "0000847907" "3" "70" "4" "187118198" "187118198" "subst" "0" "00000" "CYP4V2_000112" "g.187118198T>G" "" "{PMID:Lin 2005:15937078}" "" "CYP4V2 518T>G, L173W" "homozygous" "Germline" "?" "" "0" "" "" "g.186197044T>G" "" "likely pathogenic" "" "0000847908" "3" "70" "4" "187122303" "187122319" "del" "0" "00000" "CYP4V2_000107" "g.187122303_187122319dellinsGC" "" "{PMID:Lin 2005:15937078}" "" "CYP4V2 IVS6-8_810delinsGC, Skip exon 7" "heterozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165dellinsGC" "" "likely pathogenic" "" "0000847909" "3" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Lin 2005:15937078}" "" "CYP4V2 992A>C, H331P" "heterozygous" "Germline" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000847910" "3" "70" "4" "187130369" "187130369" "subst" "0" "00000" "CYP4V2_000119" "g.187130369C>T" "" "{PMID:Lin 2005:15937078}" "" "CYP4V2 1348C>T, Q450X" "homozygous" "Germline" "?" "" "0" "" "" "g.186209215C>T" "" "likely pathogenic" "" "0000847911" "3" "70" "4" "187130369" "187130369" "subst" "0" "00000" "CYP4V2_000119" "g.187130369C>T" "" "{PMID:Lin 2005:15937078}" "" "CYP4V2 1348C>T, Q450X" "homozygous" "Germline" "?" "" "0" "" "" "g.186209215C>T" "" "likely pathogenic" "" "0000847915" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 IVS6-8delTCATACAGGTCATCGCG/insGC (3\'[acceptor]splice site), Exon7del" "error, in text mutation in IVS6-8delTCATACAGGTCATCGCG/insGC and in the table single heterozygous L112X; homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847916" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 IVS6-8delTCATACAGGTCATCGCG/insGC (3\'[acceptor]splice site), Exon7del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847917" "2" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 IVS8-2A>G (3\'[acceptor]splice site), Exon9del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000847918" "1" "70" "4" "187115692" "187115692" "subst" "4.06068E-6" "00000" "CYP4V2_000110" "g.187115692C>T" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 557C>T, R85C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186194538C>T" "" "likely pathogenic" "" "0000847919" "2" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 587G>A, G95R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186194568G>A" "" "likely pathogenic" "" "0000847920" "3" "30" "4" "187113041" "187113041" "subst" "0.44398" "00000" "CYP4V2_000032" "g.187113041C>G" "22/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 367C>G, L22V" "homozygous" "Germline" "yes" "" "0" "" "" "g.186191887C>G" "" "likely benign" "" "0000847921" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 IVS6-8delTCATACAGGTCATCGCG/insGC (3\'[acceptor]splice site), Exon7del" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847922" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 IVS6-8delTCATACAGGTCATCGCG/insGC (3\'[acceptor]splice site), Exon7del" "single heterozygous - no other allele detected" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847923" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 IVS6-8delTCATACAGGTCATCGCG/insGC (3\'[acceptor]splice site), Exon7del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847924" "2" "70" "4" "187130127" "187130127" "subst" "5.68505E-5" "00000" "CYP4V2_000024" "g.187130127G>A" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 1503G>A, R400H" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186208973G>A" "" "likely pathogenic" "" "0000847925" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 IVS6-8delTCATACAGGTCATCGCG/insGC (3\'[acceptor]splice site), Exon7del" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847926" "1" "70" "4" "187117164" "187117164" "subst" "0" "00000" "CYP4V2_000095" "g.187117164T>G" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 639T>G, L112X" "heterozygous" "Germline" "?" "" "0" "" "" "g.186196010T>G" "" "likely pathogenic" "" "0000847927" "2" "70" "4" "187130241" "187130256" "del" "0" "00000" "CYP4V2_000117" "g.187130241_187130256del" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 IVS9-6delTGACAGCAGGTTACAG (3\'[acceptor]splice site), Exon10del" "heterozygous" "Germline" "?" "" "0" "" "" "g.186209087_186209102del" "" "likely pathogenic" "" "0000847928" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 IVS6-8delTCATACAGGTCATCGCG/insGC (3\'[acceptor]splice site), Exon7del" "homozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847929" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 IVS6-8delTCATACAGGTCATCGCG/insGC (3\'[acceptor]splice site), Exon7del" "homozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847930" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 IVS6-8delTCATACAGGTCATCGCG/insGC (3\'[acceptor]splice site), Exon7del" "homozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847931" "3" "30" "4" "187113041" "187113041" "subst" "0.44398" "00000" "CYP4V2_000032" "g.187113041C>G" "22/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 367C>G, L22V" "homozygous" "Germline" "?" "" "0" "" "" "g.186191887C>G" "" "likely benign" "" "0000847932" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 IVS6-8delTCATACAGGTCATCGCG/insGC (3\'[acceptor]splice site), Exon7del" "homozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847933" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 IVS6-8delTCATACAGGTCATCGCG/insGC (3\'[acceptor]splice site), Exon7del" "heterozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847934" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 IVS6-8delTCATACAGGTCATCGCG/insGC (3\'[acceptor]splice site), Exon7del" "heterozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847935" "2" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 1296A>C, H331P" "heterozygous" "Germline" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000847936" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 IVS6-8delTCATACAGGTCATCGCG/insGC (3\'[acceptor]splice site), Exon7del" "homozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847937" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 IVS6-8delTCATACAGGTCATCGCG/insGC (3\'[acceptor]splice site), Exon7del" "error, in text mutation in IVS6-8delTCATACAGGTCATCGCG/insGC and in the table single heterozygous L112X; homozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847938" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 IVS6-8delTCATACAGGTCATCGCG/insGC (3\'[acceptor]splice site), Exon7del" "heterozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847939" "2" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 IVS8-2A>G (3\'[acceptor]splice site), Exon9del" "heterozygous" "Germline" "?" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000847940" "1" "70" "4" "187115692" "187115692" "subst" "4.06068E-6" "00000" "CYP4V2_000110" "g.187115692C>T" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 557C>T, R85C" "heterozygous" "Germline" "?" "" "0" "" "" "g.186194538C>T" "" "likely pathogenic" "" "0000847941" "2" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 587G>A, G95R" "heterozygous" "Germline" "?" "" "0" "" "" "g.186194568G>A" "" "likely pathogenic" "" "0000847942" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 IVS6-8delTCATACAGGTCATCGCG/insGC (3\'[acceptor]splice site), Exon7del" "homozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847943" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 IVS6-8delTCATACAGGTCATCGCG/insGC (3\'[acceptor]splice site), Exon7del" "heterozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847944" "2" "70" "4" "187130127" "187130127" "subst" "5.68505E-5" "00000" "CYP4V2_000024" "g.187130127G>A" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 1503G>A, R400H" "heterozygous" "Germline" "?" "" "0" "" "" "g.186208973G>A" "" "likely pathogenic" "" "0000847945" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/100 alleles" "{PMID:Shan 2005:16179904}" "" "CYP4V2 IVS6-8delTCATACAGGTCATCGCG/insGC (3\'[acceptor]splice site), Exon7del" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847949" "3" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.1091-2A>G, Splicing acceptor" "homozygous" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000847950" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.802-8_810del17insGC, Splicing acceptor" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847951" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.802-8_810del17insGC, Splicing acceptor" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847952" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.802-8_810del17insGC, Splicing acceptor" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847953" "1" "70" "4" "187118198" "187118198" "subst" "0" "00000" "CYP4V2_000112" "g.187118198T>G" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.518T>G, p.Leu173Trp" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186197044T>G" "" "likely pathogenic" "" "0000847954" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.802-8_810del17insGC, Splicing acceptor" "heterozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847955" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.802-8_810del17insGC, Splicing acceptor" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847956" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.802-8_810del17insGC, Splicing acceptor" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847957" "1" "70" "4" "187120197" "187120197" "subst" "4.06171E-6" "00000" "CYP4V2_000115" "g.187120197A>G" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.761A>G, p.His254Arg" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186199043A>G" "" "likely pathogenic" "" "0000847958" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.802-8_810del17insGC, Splicing acceptor" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847959" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.802-8_810del17insGC, Splicing acceptor" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847960" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.802-8_810del17insGC, Splicing acceptor" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847961" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.802-8_810del17insGC, Splicing acceptor" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847962" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.802-8_810del17insGC, Splicing acceptor" "heterozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847963" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.802-8_810del17insGC, Splicing acceptor" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847964" "1" "70" "4" "187115652" "187115652" "subst" "0" "00000" "CYP4V2_000081" "g.187115652A>G" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.215-2A>G, Splicing acceptor" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186194498A>G" "" "likely pathogenic" "" "0000847965" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.802-8_810del17insGC, Splicing acceptor" "heterozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847966" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.802-8_810del17insGC, Splicing acceptor" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847967" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.802-8_810del17insGC, Splicing acceptor" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847968" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.802-8_810del17insGC, Splicing acceptor" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847969" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.802-8_810del17insGC, Splicing acceptor" "heterozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847970" "2" "70" "4" "187130097" "187130097" "subst" "2.84243E-5" "00000" "CYP4V2_000020" "g.187130097G>A" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.1169G>A, p.Arg390His" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186208943G>A" "" "likely pathogenic" "" "0000847971" "2" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.992A>C, p.His331Pro" "heterozygous" "Germline" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000847972" "2" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.1091-2A>G, Splicing acceptor" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000847973" "2" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.1091-2A>G, Splicing acceptor" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000847974" "2" "70" "4" "187130127" "187130127" "subst" "5.68505E-5" "00000" "CYP4V2_000024" "g.187130127G>A" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.1199G>A, p.Arg400His" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186208973G>A" "" "likely pathogenic" "" "0000847975" "2" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.992A>C, p.His331Pro" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000847976" "2" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.992A>C, p.His331Pro" "heterozygous" "Germline" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000847977" "2" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.802-8_810del17insGC" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847978" "2" "70" "4" "187122467" "187122467" "subst" "4.06075E-6" "00000" "CYP4V2_000017" "g.187122467C>T" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.958C>T, p.R320X" "heterozygous" "Germline" "?" "" "0" "" "" "g.186201313C>T" "" "likely pathogenic" "" "0000847979" "2" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.992A>C, p.His331Pro" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000847980" "2" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "0/192 alleles" "{PMID:Xiao 2011:21565171}" "" "c.992A>C" "heterozygous" "Germline" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000847993" "0" "70" "4" "187130420" "187130420" "subst" "0" "00000" "CYP4V2_000120" "g.187130420T>C" "" "{PMID:Song 2012:23242590}" "" "c.1399T>C (C467R)" "heterozygous" "De novo" "yes" "" "0" "" "" "g.186209266T>C" "" "likely pathogenic" "" "0000847994" "21" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Song 2012:23242590}" "" "" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000847995" "21" "30" "4" "187113041" "187113041" "subst" "0.44398" "00000" "CYP4V2_000032" "g.187113041C>G" "" "{PMID:Song 2012:23242590}" "" "" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186191887C>G" "" "likely benign" "" "0000847996" "11" "30" "4" "187120211" "187120211" "subst" "0.574464" "00000" "CYP4V2_000014" "g.187120211C>A" "" "{PMID:Song 2012:23242590}" "" "" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186199057C>A" "" "likely benign" "" "0000847997" "10" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Wang 2012:22693542}" "" "CYP4V2 c.802-8_810del17insGC" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847998" "10" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Wang 2012:22693542}" "" "CYP4V2 c.802-8_810del17insGC" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000847999" "10" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Wang 2012:22693542}" "" "CYP4V2 c.802-8_810del17insGC" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848000" "10" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Wang 2012:22693542}" "" "CYP4V2 c.802-8_810del17insGC" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848001" "20" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Wang 2012:22693542}" "" "" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000848002" "20" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Wang 2012:22693542}" "" "" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000848003" "20" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Wang 2012:22693542}" "" "" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000848004" "20" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Wang 2012:22693542}" "" "" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000848005" "1" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Meng 2014:25593508}" "" "CYP4V2 c.283G>A, p.G95R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186194568G>A" "" "likely pathogenic" "" "0000848006" "1" "70" "4" "187122303" "187122319" "del" "0" "00000" "CYP4V2_000107" "g.187122303_187122319dellinsGC" "" "{PMID:Meng 2014:25593508}" "" "CYP4V2 c.802-8_810del17insGC" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165dellinsGC" "" "likely pathogenic" "" "0000848008" "1" "70" "4" "187122303" "187122319" "del" "0" "00000" "CYP4V2_000107" "g.187122303_187122319dellinsGC" "" "{PMID:Meng 2014:25593508}" "" "CYP4V2 c.802-8_810del17insGC" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165dellinsGC" "" "likely pathogenic" "" "0000848009" "2" "70" "4" "187126393" "187126393" "subst" "0" "00000" "CYP4V2_000002" "g.187126393T>G" "" "{PMID:Meng 2014:25593508}" "" "CYP4V2 c.1027T>G, p.Y343D" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186205239T>G" "" "likely pathogenic" "" "0000848010" "2" "70" "4" "187117244" "187117244" "subst" "0" "00000" "CYP4V2_000111" "g.187117244T>G" "" "{PMID:Meng 2014:25593508}" "" "CYP4V2 c.413+2T>G,del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186196090T>G" "" "likely pathogenic" "" "0000848011" "3" "70" "4" "187113008" "187113008" "subst" "0" "00000" "CYP4V2_000108" "g.187113008C>T" "" "{PMID:Meng 2014:25593508}" "" "CYP4V2 c.31C>T, p.Q11X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186191854C>T" "" "likely pathogenic" "" "0000848012" "2" "70" "4" "187120228" "187120228" "del" "0" "00000" "CYP4V2_000116" "g.187120228del" "" "{PMID:Meng 2014:25593508}" "" "CYP4V2 c.791 del T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186199074del" "" "likely pathogenic" "" "0000848013" "3" "70" "4" "187117161" "187117161" "subst" "4.47085E-5" "00000" "CYP4V2_000011" "g.187117161T>C" "" "{PMID:Astuti 2014:25629076}" "" "CYP4V2 c.332T>C, p.Ile111Thr" "homozygous" "Germline" "yes" "" "0" "" "" "g.186196007T>C" "" "likely pathogenic" "" "0000848014" "3" "70" "4" "187118284" "187118284" "subst" "0" "00000" "CYP4V2_000113" "g.187118284G>A" "" "{PMID:Astuti 2014:25629076}" "" "CYP4V2 c.604G>A, p.Glu202Lys" "homozygous" "Germline" "?" "" "0" "" "" "g.186197130G>A" "" "likely pathogenic" "" "0000848015" "3" "70" "4" "187118288" "187118288" "subst" "0" "00000" "CYP4V2_000114" "g.187118288A>G" "" "{PMID:Astuti 2014:25629076}" "" "CYP4V2 c.604+4A>G, splicing" "homozygous" "Germline" "?" "" "0" "" "" "g.186197134A>G" "" "likely pathogenic" "" "0000848016" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Astuti 2014:25629076}" "" "CYP4V2 c.802-8_810delinsGC, splicing" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848017" "1" "70" "4" "187115681" "187115681" "subst" "0" "00000" "CYP4V2_000109" "g.187115681C>G" "" "{PMID:Astuti 2014:25629076}" "" "CYP4V2 c.242C>G, p.Thr81Arg" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186194527C>G" "" "likely pathogenic" "" "0000848018" "1" "70" "4" "187130270" "187130270" "dup" "0" "00000" "CYP4V2_000118" "g.187130270dup" "" "{PMID:Astuti 2014:25629076}" "" "CYP4V2 c.1249dup, p.Thr417Asnfs*2" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186209116dup" "" "likely pathogenic" "" "0000848019" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Astuti 2014:25629076}" "" "CYP4V2 c.802-8_810delinsGC, splicing" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848020" "3" "70" "4" "187130414" "187130414" "subst" "3.24934E-5" "00000" "CYP4V2_000030" "g.187130414A>G" "" "{PMID:Astuti 2014:25629076}" "" "CYP4V2 c.1393A>G, p.Arg465Gly" "homozygous" "Germline" "?" "" "0" "" "" "g.186209260A>G" "" "likely pathogenic" "" "0000848021" "21" "70" "4" "187117161" "187117161" "subst" "4.47085E-5" "00000" "CYP4V2_000011" "g.187117161T>C" "" "{PMID:Astuti 2014:25629076}" "" "CYP4V2 c.332T>C, p.Ile111Thr" "single heterozygous variant, no second allele found" "Germline" "?" "" "0" "" "" "g.186196007T>C" "" "likely pathogenic" "" "0000848022" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Astuti 2014:25629076}" "" "CYP4V2 c.802-8_810delinsGC, splicing" "single heterozygous variant, no second allele found" "Germline" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848023" "2" "70" "4" "187130126" "187130126" "subst" "4.87282E-5" "00000" "CYP4V2_000023" "g.187130126C>T" "" "{PMID:Astuti 2014:25629076}" "" "CYP4V2 c.1198C>T , p.Arg400Cys" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186208972C>T" "" "likely pathogenic" "" "0000848024" "2" "70" "4" "187130126" "187130126" "subst" "4.87282E-5" "00000" "CYP4V2_000023" "g.187130126C>T" "" "{PMID:Astuti 2014:25629076}" "" "CYP4V2 c.1198C>T , p.Arg400Cys" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186208972C>T" "" "likely pathogenic" "" "0000848025" "11" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Astuti 2014:25629076}" "" "CYP4V2 Genomic deletion" "compound heterozygous; deletion between 3.8 and 4.1 Mb, spanning the entire CYP4V2 gene and several other genes, including two OMIM genes (KLKB1 and F11)" "Germline" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000848026" "2" "70" "4" "187130126" "187130126" "subst" "4.87282E-5" "00000" "CYP4V2_000023" "g.187130126C>T" "" "{PMID:Astuti 2014:25629076}" "" "CYP4V2 c.1198C>T , p.Arg400Cys" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.186208972C>T" "" "likely pathogenic" "" "0000848027" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Tian 2015:26085992}" "" "CYP4V2 c.802-8_810del17insGC" "allele only extrapolated, segregation not described; heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848028" "1" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Tian 2015:26085992}" "" "CYP4V2 c.1091-2A>G" "allele only extrapolated, segregation not described; heterozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000848029" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Tian 2015:26085992}" "" "CYP4V2 c.802-8_810del17insGC" "allele only extrapolated, segregation not described; heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848030" "3" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Tian 2015:26085992}" "" "CYP4V2 c.1091-2A>G" "homozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000848031" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Tian 2015:26085992}" "" "CYP4V2 c.802-8_810del17insGC" "allele only extrapolated, segregation not described; heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848032" "2" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Tian 2015:26085992}" "" "CYP4V2 c.1091-2A>G" "allele only extrapolated, segregation not described; heterozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000848033" "2" "70" "4" "187115658" "187115658" "subst" "4.06134E-6" "00000" "CYP4V2_000073" "g.187115658T>A" "" "{PMID:Tian 2015:26085992}" "" "CYP4V2 c.219T>A, p.F73L" "no nucleotide annotation, extrapolated from protein and databases; allele only extrapolated, segregation not described; heterozygous" "Unknown" "?" "" "0" "" "" "g.186194504T>A" "" "likely pathogenic" "" "0000848034" "2" "70" "4" "187130127" "187130127" "subst" "5.68505E-5" "00000" "CYP4V2_000024" "g.187130127G>A" "" "{PMID:Tian 2015:26085992}" "" "CYP4V2 c.1199G>A, p.R400H" "no nucleotide annotation, extrapolated from protein and databases; allele only extrapolated, segregation not described; heterozygous" "Unknown" "?" "" "0" "" "" "g.186208973G>A" "" "likely pathogenic" "" "0000848035" "2" "70" "4" "187131654" "187131654" "del" "0" "00000" "CYP4V2_000121" "g.187131654del" "" "{PMID:Tian 2015:26085992}" "" "CYP4V2 c.1437delC, p.T479TfsX7" "allele only extrapolated, segregation not described; heterozygous, first affected nucleotide rule switches p.T479TfsX7 to p.I480FfsX6" "Unknown" "?" "" "0" "" "" "g.186210500del" "" "likely pathogenic" "" "0000848036" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Park 2016:26865810}" "" "CYP4V2 c.802-8_810del17insGC" "homozygous" "Unknown" "?" "" "1" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848039" "21" "70" "4" "187113042" "187113042" "subst" "0" "00000" "CYP4V2_000093" "g.187113042T>A" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.65T>A, p.L22H" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186191888T>A" "" "likely pathogenic" "" "0000848040" "11" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.65T>A, p.L22H" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186194568G>A" "" "likely pathogenic" "" "0000848041" "0" "70" "4" "187113054" "187113054" "subst" "0" "00000" "CYP4V2_000122" "g.187113054G>A" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.77G>A, p.G26D" "single heterozygous variant, no second allele found" "Unknown" "?" "" "0" "" "" "g.186191900G>A" "" "likely pathogenic" "" "0000848042" "21" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGC," "single heterozygous variant, no second allele found" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848043" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGC," "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848044" "10" "70" "4" "187122303" "187122318" "delins" "0" "00000" "CYP4V2_000090" "g.187122303_187122318delinsG" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGT," "single heterozygous variant, no second allele found" "Germline" "yes" "" "0" "" "" "g.186201149_186201164delinsG" "" "likely pathogenic" "" "0000848045" "21" "70" "4" "187122474" "187122476" "del" "0" "00000" "CYP4V2_000131" "g.187122474_187122476del" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.965_7delAAG, p.321delE" "error in annotation, c.965_7delAAG should be c.965_967delAAG; compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201320_186201322del" "" "likely pathogenic" "" "0000848046" "11" "70" "4" "187130097" "187130097" "subst" "2.84243E-5" "00000" "CYP4V2_000020" "g.187130097G>A" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.1169G>A, p.R390H" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186208943G>A" "" "likely pathogenic" "" "0000848047" "3" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.992A>C, p.H331P" "homozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000848048" "3" "70" "4" "187130097" "187130097" "subst" "2.84243E-5" "00000" "CYP4V2_000020" "g.187130097G>A" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.1169G>A, p.R390H" "homozygous" "Unknown" "?" "" "0" "" "" "g.186208943G>A" "" "likely pathogenic" "" "0000848049" "3" "70" "4" "187126428" "187126428" "dup" "0" "00000" "CYP4V2_000101" "g.187126428dup" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.1062insA, p.V355Sfs*" "single heterozygous variant, no second allele found" "Unknown" "?" "" "0" "" "" "g.186205274dup" "" "likely pathogenic" "" "0000848050" "0" "70" "4" "187115652" "187115652" "subst" "0" "00000" "CYP4V2_000081" "g.187115652A>G" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.215-2A>G" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186194498A>G" "" "likely pathogenic" "" "0000848051" "0" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.215-2A>G" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000848052" "21" "70" "4" "187122303" "187122318" "delins" "0" "00000" "CYP4V2_000090" "g.187122303_187122318delinsG" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGT," "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201164delinsG" "" "likely pathogenic" "" "0000848053" "11" "70" "4" "187130097" "187130097" "subst" "2.84243E-5" "00000" "CYP4V2_000020" "g.187130097G>A" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.1169G>A, p.R390H" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186208943G>A" "" "likely pathogenic" "" "0000848054" "3" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.283G>A, p.G95R" "homozygous" "Unknown" "?" "" "0" "" "" "g.186194568G>A" "" "likely pathogenic" "" "0000848055" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGC," "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848056" "0" "70" "4" "187115658" "187115658" "subst" "4.06134E-6" "00000" "CYP4V2_000073" "g.187115658T>A" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.219T>A, p.F73L" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186194504T>A" "" "likely pathogenic" "" "0000848057" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGC," "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848058" "3" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.1091-2A>G," "homozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000848059" "0" "70" "4" "187115658" "187115658" "subst" "4.06134E-6" "00000" "CYP4V2_000073" "g.187115658T>A" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.219T>A, p.F73L" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186194504T>A" "" "likely pathogenic" "" "0000848060" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGC," "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848061" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGC," "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848062" "0" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.992A>C, p.H331P" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000848063" "0" "70" "4" "187130241" "187130256" "del" "0" "00000" "CYP4V2_000117" "g.187130241_187130256del" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.1126-6_1135del16bp" "no protein annotation; error in annotation, the entered coordinates do not agree with the intron/exon boundaries for the transcript, it is said to be reported in Shan 2005 - there marked as c.1226-6_1235del; compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186209087_186209102del" "" "likely pathogenic" "" "0000848064" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGC," "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848065" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGC," "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848066" "3" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.992A>C, p.H331P" "homozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000848067" "3" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.992A>C, p.H331P" "homozygous" "Germline" "yes" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000848068" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGC," "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848069" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGC," "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848070" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGC," "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848071" "0" "70" "4" "187122303" "187122318" "delins" "0" "00000" "CYP4V2_000090" "g.187122303_187122318delinsG" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGT," "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201164delinsG" "" "likely pathogenic" "" "0000848072" "0" "70" "4" "187126428" "187126428" "dup" "0" "00000" "CYP4V2_000101" "g.187126428dup" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.1062insA, p.V355Sfs*" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205274dup" "" "likely pathogenic" "" "0000848073" "0" "70" "4" "187122303" "187122318" "delins" "0" "00000" "CYP4V2_000090" "g.187122303_187122318delinsG" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGT," "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201164delinsG" "" "likely pathogenic" "" "0000848074" "0" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.1091-2A>G" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000848075" "0" "70" "4" "187118198" "187118198" "subst" "0" "00000" "CYP4V2_000112" "g.187118198T>G" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.518T>G, p.L173W" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186197044T>G" "" "likely pathogenic" "" "0000848076" "0" "70" "4" "187120117" "187120120" "del" "0" "00000" "CYP4V2_000127" "g.187120117_187120120del" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.681_4delTGAG, p.S227Rfs*1" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186198963_186198966del" "" "likely pathogenic" "" "0000848077" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGC," "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848078" "0" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.992A>C, p.H331P" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000848079" "11" "70" "4" "187122303" "187122318" "delins" "0" "00000" "CYP4V2_000090" "g.187122303_187122318delinsG" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGT," "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201164delinsG" "" "likely pathogenic" "" "0000848080" "21" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.1091-2A>G" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000848081" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGC," "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848082" "0" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.992A>C, p.H331P" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000848083" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGC," "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848084" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGC," "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848085" "0" "70" "4" "187126360" "187126360" "subst" "0" "00000" "CYP4V2_000132" "g.187126360G>A" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.994G > A, p.D332N" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205206G>A" "" "likely pathogenic" "" "0000848086" "0" "70" "4" "187115658" "187115658" "subst" "4.06134E-6" "00000" "CYP4V2_000073" "g.187115658T>A" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.219T>A, p.F73L" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186194504T>A" "" "likely pathogenic" "" "0000848087" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGC," "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848088" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGC," "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848089" "11" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGC," "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848090" "21" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.992A>C, p.H331P" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000848091" "3" "70" "4" "187122303" "187122318" "delins" "0" "00000" "CYP4V2_000090" "g.187122303_187122318delinsG" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGT," "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201164delinsG" "" "likely pathogenic" "" "0000848092" "21" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.1091-2A>G" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000848093" "0" "70" "4" "187113054" "187113054" "subst" "0" "00000" "CYP4V2_000122" "g.187113054G>A" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.77G>A, p.G26D" "single heterozygous variant, no second allele found" "Unknown" "?" "" "0" "" "" "g.186191900G>A" "" "likely pathogenic" "" "0000848094" "21" "70" "4" "187113042" "187113042" "subst" "0" "00000" "CYP4V2_000093" "g.187113042T>A" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.65T>A, p.L22H" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186191888T>A" "" "likely pathogenic" "" "0000848095" "11" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.65T>A, p.L22H" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186194568G>A" "" "likely pathogenic" "" "0000848096" "21" "70" "4" "187122474" "187122476" "del" "0" "00000" "CYP4V2_000131" "g.187122474_187122476del" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.965_7delAAG, p.321delE" "error in annotation, c.965_7delAAG should be c.965_967delAAG; compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201320_186201322del" "" "likely pathogenic" "" "0000848097" "11" "70" "4" "187130097" "187130097" "subst" "2.84243E-5" "00000" "CYP4V2_000020" "g.187130097G>A" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.1169G>A, p.R390H" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186208943G>A" "" "likely pathogenic" "" "0000848098" "0" "70" "4" "187115652" "187115652" "subst" "0" "00000" "CYP4V2_000081" "g.187115652A>G" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.215-2A>G" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186194498A>G" "" "likely pathogenic" "" "0000848099" "0" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.215-2A>G" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000848100" "0" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.992A>C, p.H331P" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000848101" "0" "70" "4" "187130241" "187130256" "del" "0" "00000" "CYP4V2_000117" "g.187130241_187130256del" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.1126-6_1135del16bp" "no protein annotation; error in annotation, the entered coordinates do not agree with the intron/exon boundaries for the transcript, it is said to be reported in Shan 2005 - there marked as c.1226-6_1235del; compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186209087_186209102del" "" "likely pathogenic" "" "0000848102" "21" "70" "4" "187122303" "187122318" "delins" "0" "00000" "CYP4V2_000090" "g.187122303_187122318delinsG" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGT," "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201164delinsG" "" "likely pathogenic" "" "0000848103" "11" "70" "4" "187130097" "187130097" "subst" "2.84243E-5" "00000" "CYP4V2_000020" "g.187130097G>A" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.1169G>A, p.R390H" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186208943G>A" "" "likely pathogenic" "" "0000848104" "21" "70" "4" "187122303" "187122318" "delins" "0" "00000" "CYP4V2_000090" "g.187122303_187122318delinsG" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGT," "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201164delinsG" "" "likely pathogenic" "" "0000848105" "11" "70" "4" "187130097" "187130097" "subst" "2.84243E-5" "00000" "CYP4V2_000020" "g.187130097G>A" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.1169G>A, p.R390H" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186208943G>A" "" "likely pathogenic" "" "0000848106" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGC," "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848107" "3" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.992A>C, p.H331P" "homozygous" "Germline" "yes" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000848108" "3" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.992A>C, p.H331P" "homozygous" "Germline" "yes" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000848109" "11" "70" "4" "187122303" "187122318" "delins" "0" "00000" "CYP4V2_000090" "g.187122303_187122318delinsG" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGT," "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201164delinsG" "" "likely pathogenic" "" "0000848110" "21" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.1091-2A>G" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000848111" "0" "70" "4" "187115658" "187115658" "subst" "4.06134E-6" "00000" "CYP4V2_000073" "g.187115658T>A" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.219T>A, p.F73L" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186194504T>A" "" "likely pathogenic" "" "0000848112" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Yin 2016:26971461}" "" "CYP4V2 c.802-8_810del17bpinsGC," "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848113" "3" "70" "4" "187117191" "187117191" "subst" "4.06157E-6" "00000" "CYP4V2_000096" "g.187117191C>A" "" "{PMID:Katagiri 2016:27348340}" "" "CYP4V2 c.362C>A, p.S121Y" "homozygous" "Germline" "yes" "" "0" "" "" "g.186196037C>A" "" "likely pathogenic" "" "0000848117" "3" "70" "4" "187113048" "187113048" "subst" "0" "00000" "CYP4V2_000005" "g.187113048T>C" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.71T>C, p.(Leu24Pro)" "homozygous" "Unknown" "?" "" "0" "" "" "g.186191894T>C" "" "likely pathogenic" "" "0000848118" "3" "70" "4" "187113111" "187113111" "subst" "0" "00000" "CYP4V2_000008" "g.187113111A>C" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.134A>C, p.(Gln45Pro)" "homozygous" "Unknown" "?" "" "0" "" "" "g.186191957A>C" "" "likely pathogenic" "" "0000848119" "3" "70" "4" "187113111" "187113111" "subst" "0" "00000" "CYP4V2_000008" "g.187113111A>C" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.134A>C, p.(Gln45Pro)" "homozygous" "Unknown" "?" "" "0" "" "" "g.186191957A>C" "" "likely pathogenic" "" "0000848120" "3" "70" "4" "187122319" "187122319" "del" "5.68722E-5" "00000" "CYP4V2_000015" "g.187122319del" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.810delT, p.(Glu271Asnfs*6)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201165del" "" "likely pathogenic" "" "0000848121" "3" "70" "4" "187122319" "187122319" "del" "5.68722E-5" "00000" "CYP4V2_000015" "g.187122319del" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.810delT, p.(Glu271Asnfs*6)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201165del" "" "likely pathogenic" "" "0000848122" "3" "70" "4" "187122319" "187122319" "del" "5.68722E-5" "00000" "CYP4V2_000015" "g.187122319del" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.810delT, p.(Glu271Asnfs*6)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201165del" "" "likely pathogenic" "" "0000848123" "3" "70" "4" "187122319" "187122319" "del" "5.68722E-5" "00000" "CYP4V2_000015" "g.187122319del" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.810delT, p.(Glu271Asnfs*6)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201165del" "" "likely pathogenic" "" "0000848124" "3" "70" "4" "187122437" "187122437" "subst" "4.06058E-6" "00000" "CYP4V2_000016" "g.187122437G>T" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.928G>T, p.(Glu310Ter)" "subject to nonsense-mediated decay; compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201283G>T" "" "likely pathogenic" "" "0000848125" "3" "70" "4" "187130106" "187130106" "subst" "0" "00000" "CYP4V2_000021" "g.187130106C>T" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1178C>T, p.(Pro393Leu)" "homozygous" "Unknown" "?" "" "0" "" "" "g.186208952C>T" "" "likely pathogenic" "" "0000848126" "3" "70" "4" "187130147" "187130147" "subst" "0" "00000" "CYP4V2_000025" "g.187130147G>T" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1219G>T, p.(Glu407Ter)" "subject to nonsense-mediated decay; homozygous" "Unknown" "?" "" "0" "" "" "g.186208993G>T" "" "likely pathogenic" "" "0000848127" "3" "70" "4" "187130376" "187130376" "subst" "9.74706E-5" "00000" "CYP4V2_000028" "g.187130376G>A" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1355G>A, p.(Arg452His)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186209222G>A" "" "likely pathogenic" "" "0000848128" "3" "70" "4" "187130154" "187130154" "subst" "4.06068E-6" "00000" "CYP4V2_000026" "g.187130154G>A" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1225+1G>A, p.(Gly364_V408del)a" "Skips exon 9 (predicted), subject to nonsense-mediated decay; homozygous" "Unknown" "?" "" "0" "" "" "g.186209000G>A" "" "likely pathogenic" "" "0000848129" "3" "70" "4" "187131661" "187131661" "del" "0" "00000" "CYP4V2_000031" "g.187131661del" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1442delT, p.(Ser482Argfs*4)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186210507del" "" "likely pathogenic" "" "0000848130" "3" "30" "4" "187113041" "187113041" "subst" "0.44398" "00000" "CYP4V2_000032" "g.187113041C>G" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.64C>G, p.(Leu22Val)" "Probably not pathogenic; homozygous" "Unknown" "?" "" "0" "" "" "g.186191887C>G" "" "likely benign" "" "0000848131" "3" "30" "4" "187113041" "187113041" "subst" "0.44398" "00000" "CYP4V2_000032" "g.187113041C>G" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.64C>G, p.(Leu22Val)" "Probably not pathogenic; homozygous" "Unknown" "?" "" "0" "" "" "g.186191887C>G" "" "likely benign" "" "0000848132" "3" "30" "4" "187113041" "187113041" "subst" "0.44398" "00000" "CYP4V2_000032" "g.187113041C>G" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.64C>G, p.(Leu22Val)" "Probably not pathogenic; homozygous" "Unknown" "?" "" "0" "" "" "g.186191887C>G" "" "likely benign" "" "0000848133" "3" "70" "4" "187113174" "187113174" "subst" "4.22735E-5" "00000" "CYP4V2_000009" "g.187113174T>G" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.197T>G, p.(Met66Arg)" "homozygous" "Unknown" "?" "" "0" "" "" "g.186192020T>G" "" "likely pathogenic" "" "0000848134" "3" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.283G>A, p.(Gly95Arg)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186194568G>A" "" "likely pathogenic" "" "0000848135" "3" "70" "4" "187117161" "187117161" "subst" "4.47085E-5" "00000" "CYP4V2_000011" "g.187117161T>C" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.332T>C, p.(Ile111Thr)" "homozygous" "Unknown" "?" "" "0" "" "" "g.186196007T>C" "" "likely pathogenic" "" "0000848136" "3" "70" "4" "187117161" "187117161" "subst" "4.47085E-5" "00000" "CYP4V2_000011" "g.187117161T>C" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.332T>C, p.(Ile111Thr)" "homozygous" "Unknown" "?" "" "0" "" "" "g.186196007T>C" "" "likely pathogenic" "" "0000848137" "3" "70" "4" "187117161" "187117161" "subst" "4.47085E-5" "00000" "CYP4V2_000011" "g.187117161T>C" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.332T>C, p.(Ile111Thr)" "homozygous" "Unknown" "?" "" "0" "" "" "g.186196007T>C" "" "likely pathogenic" "" "0000848138" "3" "70" "4" "187117161" "187117161" "subst" "4.47085E-5" "00000" "CYP4V2_000011" "g.187117161T>C" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.332T>C, p.(Ile111Thr)" "homozygous" "Unknown" "?" "" "0" "" "" "g.186196007T>C" "" "likely pathogenic" "" "0000848139" "3" "70" "4" "187117161" "187117161" "subst" "4.47085E-5" "00000" "CYP4V2_000011" "g.187117161T>C" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.332T>C, p.(Ile111Thr)" "homozygous" "Unknown" "?" "" "0" "" "" "g.186196007T>C" "" "likely pathogenic" "" "0000848140" "3" "70" "4" "187117161" "187117161" "subst" "4.47085E-5" "00000" "CYP4V2_000011" "g.187117161T>C" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.332T>C, p.(Ile111Thr)" "homozygous" "Unknown" "?" "" "0" "" "" "g.186196007T>C" "" "likely pathogenic" "" "0000848141" "3" "70" "4" "187117161" "187117161" "subst" "4.47085E-5" "00000" "CYP4V2_000011" "g.187117161T>C" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.332T>C, p.(Ile111Thr)" "homozygous" "Unknown" "?" "" "0" "" "" "g.186196007T>C" "" "likely pathogenic" "" "0000848142" "3" "70" "4" "187120113" "187120113" "subst" "8.12486E-6" "00000" "CYP4V2_000012" "g.187120113T>A" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.677T>A, p.(Met226Lys)" "homozygous" "Unknown" "?" "" "0" "" "" "g.186198959T>A" "" "likely pathogenic" "" "0000848143" "3" "70" "4" "187120130" "187120130" "subst" "2.0311E-5" "00000" "CYP4V2_000013" "g.187120130C>T" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.694C>T, p.(Arg232Ter)c" "subject to nonsense-mediated decay; compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186198976C>T" "" "likely pathogenic" "" "0000848144" "3" "70" "4" "187120130" "187120130" "subst" "2.0311E-5" "00000" "CYP4V2_000013" "g.187120130C>T" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.694C>T, p.(Arg232Ter)c" "subject to nonsense-mediated decay; compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186198976C>T" "" "likely pathogenic" "" "0000848145" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.802-8_810del17bpinsGC, p.(Val268_Glu329del)" "skips exon 7 (verified experimentally); homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848146" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.802-8_810del17bpinsGC, p.(Val268_Glu329del)" "skips exon 7 (verified experimentally); homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848147" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.802-8_810del17bpinsGC, p.(Val268_Glu329del)" "skips exon 7 (verified experimentally); homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848148" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.802-8_810del17bpinsGC, p.(Val268_Glu329del)" "skips exon 7 (verified experimentally); homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848149" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.802-8_810del17bpinsGC, p.(Val268_Glu329del)" "skips exon 7 (verified experimentally); homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848150" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.802-8_810del17bpinsGC, p.(Val268_Glu329del)" "skips exon 7 (verified experimentally); compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848151" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.802-8_810del17bpinsGC, p.(Val268_Glu329del)" "skips exon 7 (verified experimentally); compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848152" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.802-8_810del17bpinsGC, p.(Val268_Glu329del)" "skips exon 7 (verified experimentally); compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848153" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.802-8_810del17bpinsGC, p.(Val268_Glu329del)" "skips exon 7 (verified experimentally); compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848154" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.802-8_810del17bpinsGC, p.(Val268_Glu329del)" "skips exon 7 (verified experimentally); compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848155" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.802-8_810del17bpinsGC, p.(Val268_Glu329del)" "skips exon 7 (verified experimentally); compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848156" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.802-8_810del17bpinsGC, p.(Val268_Glu329del)" "skips exon 7 (verified experimentally); compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848157" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.802-8_810del17bpinsGC, p.(Val268_Glu329del)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848158" "3" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.992A>C, p.(His331Pro)" "homozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000848159" "3" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.992A>C, p.(His331Pro)" "homozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000848160" "3" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.992A>C, p.(His331Pro)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000848161" "3" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.992A>C, p.(His331Pro)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000848162" "3" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.992A>C, p.(His331Pro)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000848163" "3" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1091-2A>G, p.(Gly364_Val408del)b" "homozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000848164" "3" "70" "4" "187130096" "187130096" "subst" "2.84245E-5" "00000" "CYP4V2_000019" "g.187130096C>T" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1168C>T, p.(Arg390Cys)" "homozygous" "Unknown" "?" "" "0" "" "" "g.186208942C>T" "" "likely pathogenic" "" "0000848165" "3" "70" "4" "187130097" "187130097" "subst" "2.84243E-5" "00000" "CYP4V2_000020" "g.187130097G>A" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1169G>A, p.(Arg390His)" "homozygous" "Unknown" "?" "" "0" "" "" "g.186208943G>A" "" "likely pathogenic" "" "0000848166" "3" "70" "4" "187130126" "187130126" "subst" "4.87282E-5" "00000" "CYP4V2_000023" "g.187130126C>T" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1198C>T, p.(Arg400Cys)" "homozygous" "Unknown" "?" "" "0" "" "" "g.186208972C>T" "" "likely pathogenic" "" "0000848167" "3" "70" "4" "187130349" "187130349" "subst" "0.00129949" "00000" "CYP4V2_000027" "g.187130349G>A" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1328G>A, p.(Arg443Gln)" "homozygous" "Unknown" "?" "" "0" "" "" "g.186209195G>A" "" "likely pathogenic" "" "0000848168" "3" "70" "4" "187130349" "187130349" "subst" "0.00129949" "00000" "CYP4V2_000027" "g.187130349G>A" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1328G>A, p.(Arg443Gln)" "homozygous" "Unknown" "?" "" "0" "" "" "g.186209195G>A" "" "likely pathogenic" "" "0000848169" "3" "70" "4" "187130349" "187130349" "subst" "0.00129949" "00000" "CYP4V2_000027" "g.187130349G>A" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1328G>A, p.(Arg443Gln)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186209195G>A" "" "likely pathogenic" "" "0000848170" "3" "70" "4" "187130349" "187130349" "subst" "0.00129949" "00000" "CYP4V2_000027" "g.187130349G>A" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1328G>A, p.(Arg443Gln)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186209195G>A" "" "likely pathogenic" "" "0000848171" "3" "70" "4" "187130414" "187130414" "subst" "3.24934E-5" "00000" "CYP4V2_000030" "g.187130414A>G" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1393A>G, p.(Arg465Gly)" "homozygous" "Unknown" "?" "" "0" "" "" "g.186209260A>G" "" "likely pathogenic" "" "0000848172" "3" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1091-2A>G, p.(Gly364_Val408del)" "Skips exon 9 (predicted); subject to nonsense-mediated decay; compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000848173" "3" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1091-2A>G, p.(Gly364_Val408del)" "Skips exon 9 (predicted); subject to nonsense-mediated decay; compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000848174" "3" "70" "4" "187120130" "187120130" "subst" "2.0311E-5" "00000" "CYP4V2_000013" "g.187120130C>T" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.694C>T, p.(Arg232Ter)c" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186198976C>T" "" "likely pathogenic" "" "0000848175" "3" "70" "4" "187122467" "187122467" "subst" "4.06075E-6" "00000" "CYP4V2_000017" "g.187122467C>T" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.958C>T, p.(Arg320Ter)" "subject to nonsense-mediated decay; compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201313C>T" "" "likely pathogenic" "" "0000848176" "3" "70" "4" "187113107" "187113107" "subst" "0.000225676" "00000" "CYP4V2_000007" "g.187113107T>A" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.130T>A, p.(Trp44Arg)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186191953T>A" "" "likely pathogenic" "" "0000848177" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.802-8_810del17bpinsGC, p.(Val268_Glu329del)" "skips exon 7 (verified experimentally); compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848178" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.802-8_810del17bpinsGC, p.(Val268_Glu329del)" "skips exon 7 (verified experimentally); compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000848179" "3" "70" "4" "187130414" "187130414" "subst" "3.24934E-5" "00000" "CYP4V2_000030" "g.187130414A>G" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1393A>G, p.(Arg465Gly)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186209260A>G" "" "likely pathogenic" "" "0000848180" "3" "70" "4" "187126393" "187126393" "subst" "0" "00000" "CYP4V2_000002" "g.187126393T>G" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1027T>G, p.(Tyr343Asp)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205239T>G" "" "likely pathogenic" "" "0000848181" "3" "70" "4" "187130127" "187130127" "subst" "5.68505E-5" "00000" "CYP4V2_000024" "g.187130127G>A" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1199G>A, p.(Arg400His)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208973G>A" "" "likely pathogenic" "" "0000848182" "3" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.992A>C, p.(His331Pro)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000848183" "3" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.992A>C, p.(His331Pro)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000848184" "3" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1091-2A>G, p.(Gly364_Val408del)" "Skips exon 9 (predicted); subject to nonsense-mediated decay; compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000848185" "3" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.992A>C, p.(His331Pro)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000848186" "3" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.992A>C, p.(His331Pro)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000848187" "3" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1091-2A>G, p.(Gly364_Val408del)" "Skips exon 9 (predicted); subject to nonsense-mediated decay; compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000848188" "3" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.992A>C, p.(His331Pro)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000848189" "3" "70" "4" "187130127" "187130127" "subst" "5.68505E-5" "00000" "CYP4V2_000024" "g.187130127G>A" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1199G>A, p.(Arg400His)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208973G>A" "" "likely pathogenic" "" "0000848190" "3" "70" "4" "187130115" "187130115" "subst" "4.06058E-6" "00000" "CYP4V2_000022" "g.187130115C>T" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1187C>T, p.(Pro396Leu)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208961C>T" "" "likely pathogenic" "" "0000848191" "3" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1091-2A>G, p.(Gly364_Val408del)" "Skips exon 9 (predicted); subject to nonsense-mediated decay; compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000848192" "3" "70" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1091-2A>G, p.(Gly364_Val408del)" "Skips exon 9 (predicted); subject to nonsense-mediated decay; compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "likely pathogenic" "" "0000848193" "3" "70" "4" "187130393" "187130393" "subst" "6.09182E-5" "00000" "CYP4V2_000029" "g.187130393G>A" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1372G>A, p.(Val458Met)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186209239G>A" "" "likely pathogenic" "" "0000848194" "3" "70" "4" "187130393" "187130393" "subst" "6.09182E-5" "00000" "CYP4V2_000029" "g.187130393G>A" "" "{PMID:Jiao 2017:28051075}" "" "CYP4V2 c.1372G>A, p.(Val458Met)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186209239G>A" "" "likely pathogenic" "" "0000848195" "0" "70" "4" "187130126" "187130126" "subst" "4.87282E-5" "00000" "CYP4V2_000023" "g.187130126C>T" "" "{PMID:Lockhart 2018:28698241}" "" "CYP4V2 c.1198C>T, R400C" "homozygous" "Unknown" "?" "" "0" "" "" "g.186208972C>T" "" "likely pathogenic" "" "0000850583" "0" "50" "4" "187126450" "187126450" "subst" "0" "01943" "CYP4V2_000133" "g.187126450G>T" "" "" "" "CYP4V2(NM_207352.3):c.1084G>T (p.V362L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859381" "0" "30" "4" "187115786" "187115786" "subst" "3.25823E-5" "02330" "CYP4V2_000125" "g.187115786A>T" "" "" "" "CYP4V2(NM_207352.4):c.327+20A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859382" "0" "30" "4" "187130365" "187130365" "subst" "3.65476E-5" "02330" "CYP4V2_000136" "g.187130365T>C" "" "" "" "CYP4V2(NM_207352.4):c.1344T>C (p.N448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867618" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Hirashima 2017:28763560}" "" "CYP4V2 c.802-8_810del17insGC" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867619" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Hirashima 2017:28763560}" "" "CYP4V2 c.802-8_810del17insGC" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867622" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Hirashima 2017:28763560}" "" "CYP4V2 c.802-8_810del17insGC" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867626" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Hirashima 2017:28763560}" "" "CYP4V2 c.802-8_810del17insGC" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867627" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Hirashima 2017:28763560}" "" "CYP4V2 c.802-8_810del17insGC" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867634" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Hirashima 2017:28763560}" "" "CYP4V2 c.802-8_810del17insGC" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867635" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Hirashima 2017:28763560}" "" "CYP4V2 c.802-8_810del17insGC" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867636" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Hirashima 2017:28763560}" "" "CYP4V2 c.802-8_810del17insGC" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867637" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Hirashima 2017:28763560}" "" "CYP4V2 c.802-8_810del17insGC" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867643" "2" "70" "4" "187130241" "187130256" "del" "0" "00000" "CYP4V2_000117" "g.187130241_187130256del" "" "{PMID:Hirashima 2017:28763560}" "" "CYP4V2 c.1226-6_1235del16" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186209087_186209102del" "" "likely pathogenic" "" "0000867644" "2" "70" "4" "187130241" "187130256" "del" "0" "00000" "CYP4V2_000117" "g.187130241_187130256del" "" "{PMID:Hirashima 2017:28763560}" "" "CYP4V2 c.1226-6_1235del16" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186209087_186209102del" "" "likely pathogenic" "" "0000867647" "2" "70" "4" "187115767" "187115767" "subst" "0" "00000" "CYP4V2_000036" "g.187115767G>A" "" "{PMID:Hirashima 2017:28763560}" "" "CYP4V2 c.327+1G>A" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186194613G>A" "" "likely pathogenic" "" "0000867651" "2" "70" "4" "187118198" "187118198" "subst" "0" "00000" "CYP4V2_000112" "g.187118198T>G" "" "{PMID:Hirashima 2017:28763560}" "" "CYP4V2 c.518T>G" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186197044T>G" "" "likely pathogenic" "" "0000867652" "2" "70" "4" "187120146" "187120146" "subst" "0" "00000" "CYP4V2_000070" "g.187120146C>A" "" "{PMID:Hirashima 2017:28763560}" "" "CYP4V2 c.710C>A" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186198992C>A" "" "likely pathogenic" "" "0000867659" "21" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Meng 2017:28848678}" "" "CYP4V2 c.802-8_810del17bpinsGC" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867660" "11" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Meng 2017:28848678}" "" "CYP4V2 c.992A>C, (p.H331P)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000867670" "0" "70" "4" "187130147" "187130147" "subst" "0" "00000" "CYP4V2_000025" "g.187130147G>T" "" "{PMID:Darki 2019:31317096}" "" "CYP4V2 c.1219G > T, p.Glu407*" "homozygous" "Germline" "yes" "" "0" "" "" "g.186208993G>T" "" "likely pathogenic" "" "0000867671" "0" "70" "4" "187130147" "187130147" "subst" "0" "00000" "CYP4V2_000025" "g.187130147G>T" "" "{PMID:Darki 2019:31317096}" "" "CYP4V2 c.1219G > T, p.Glu407*" "homozygous" "Germline" "yes" "" "0" "" "" "g.186208993G>T" "" "likely pathogenic" "" "0000867672" "0" "70" "4" "187130147" "187130147" "subst" "0" "00000" "CYP4V2_000025" "g.187130147G>T" "" "{PMID:Darki 2019:31317096}" "" "CYP4V2 c.1219G > T, p.Glu407*" "homozygous" "Germline" "yes" "" "0" "" "" "g.186208993G>T" "" "likely pathogenic" "" "0000867673" "0" "70" "4" "187130147" "187130147" "subst" "0" "00000" "CYP4V2_000025" "g.187130147G>T" "" "{PMID:Darki 2019:31317096}" "" "CYP4V2 c.1219G > T, p.Glu407*" "homozygous" "Germline" "yes" "" "0" "" "" "g.186208993G>T" "" "likely pathogenic" "" "0000867675" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.802-8_810del17insGC" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867676" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.802-8_810del17insGC" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867677" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.802-8_810del17insGC" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867678" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.802-8_810del17insGC" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867679" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.802-8_810del17insGC" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867680" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.802-8_810del17insGC" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867681" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.802-8_810del17insGC" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867682" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.802-8_810del17insGC" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867683" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.802-8_810del17insGC" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867684" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.802-8_810del17insGC" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867685" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.802-8_810del17insGC" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867686" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.802-8_810del17insGC" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867687" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.802-8_810del17insGC" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867688" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.802-8_810del17insGC" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867689" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.802-8_810del17insGC" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867690" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.802-8_810del17insGC" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867691" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.802-8_810del17insGC" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867692" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.802-8_810del17insGC" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867693" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.802-8_810del17insGC" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867694" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.802-8_810del17insGC" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867695" "0" "70" "4" "187130399" "187130399" "subst" "0" "00000" "CYP4V2_000137" "g.187130399T>C" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.1378T>C" "single heterozygous variant, no second allele found" "Germline" "yes" "" "0" "" "" "g.186209245T>C" "" "likely pathogenic" "" "0000867696" "0" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.802-8_810del17insGC" "single heterozygous variant, no second allele found" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867697" "0" "70" "4" "187130127" "187130127" "subst" "5.68505E-5" "00000" "CYP4V2_000024" "g.187130127G>A" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.1199G>A" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186208973G>A" "" "likely pathogenic" "" "0000867698" "0" "70" "4" "187130241" "187130256" "del" "0" "00000" "CYP4V2_000117" "g.187130241_187130256del" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.1226-6_1235del16" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186209087_186209102del" "" "likely pathogenic" "" "0000867699" "0" "70" "4" "187130399" "187130399" "subst" "0" "00000" "CYP4V2_000137" "g.187130399T>C" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.1378T>C" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186209245T>C" "" "likely pathogenic" "" "0000867700" "0" "70" "4" "187115767" "187115767" "subst" "0" "00000" "CYP4V2_000036" "g.187115767G>A" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.327+1G>A" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186194613G>A" "" "likely pathogenic" "" "0000867701" "0" "70" "4" "187115767" "187115767" "subst" "0" "00000" "CYP4V2_000036" "g.187115767G>A" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.327+1G>A" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186194613G>A" "" "likely pathogenic" "" "0000867702" "0" "70" "4" "187118198" "187118198" "subst" "0" "00000" "CYP4V2_000112" "g.187118198T>G" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.518T>G" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186197044T>G" "" "likely pathogenic" "" "0000867703" "0" "70" "4" "187118198" "187118198" "subst" "0" "00000" "CYP4V2_000112" "g.187118198T>G" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.518T>G" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186197044T>G" "" "likely pathogenic" "" "0000867704" "0" "70" "4" "187120146" "187120146" "subst" "0" "00000" "CYP4V2_000070" "g.187120146C>A" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.710C>A" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186198992C>A" "" "likely pathogenic" "" "0000867705" "0" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Oishi 2018:31047497}" "" "CYP4V2 c.992A>C" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000867706" "3" "70" "4" "187117161" "187117161" "subst" "4.47085E-5" "00000" "CYP4V2_000011" "g.187117161T>C" "" "{PMID:Garcia-Garcia 2018:29691984}" "" "CYP4V2 c.332T>C, p.(Ile111Thr)" "homozygous" "Germline" "yes" "rs119103283" "0" "" "" "g.186196007T>C" "" "likely pathogenic" "" "0000867707" "3" "70" "4" "187130414" "187130414" "subst" "3.24934E-5" "00000" "CYP4V2_000030" "g.187130414A>G" "" "{PMID:Garcia-Garcia 2018:29691984}" "" "CYP4V2 c.1393A>G, p.(Arg465Gly)" "homozygous" "Germline" "yes" "rs144109267" "0" "" "" "g.186209260A>G" "" "likely pathogenic" "" "0000867708" "11" "70" "4" "187120168" "187120168" "del" "0" "00000" "CYP4V2_000128" "g.187120168del" "" "{PMID:Garcia-Garcia 2018:29691984}" "" "CYP4V2 c.732delG p.(Trp244Cysfs*33)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186199014del" "" "likely pathogenic" "" "0000867709" "11" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Garcia-Garcia 2018:29691984}" "" "CYP4V2 c.283G>A, p.(Gly95Arg)" "compound heterozygous" "Germline" "yes" "rs199476187" "0" "" "" "g.186194568G>A" "" "likely pathogenic" "" "0000867710" "21" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Garcia-Garcia 2018:29691984}" "" "CYP4V2 c.283G>A, p.(Gly95Arg)" "compound heterozygous" "Germline" "yes" "rs199476187" "0" "" "" "g.186194568G>A" "" "likely pathogenic" "" "0000867711" "21" "70" "4" "187118692" "187118692" "subst" "0.00296836" "00000" "CYP4V2_000053" "g.187118692G>A" "" "{PMID:Garcia-Garcia 2018:29691984}" "" "CYP4V2 c.610G>A, p.(Ala204Thr)" "compound heterozygous" "Germline" "yes" "rs61745524" "0" "" "" "g.186197538G>A" "" "likely pathogenic" "" "0000867712" "21" "70" "4" "187130348" "187130348" "subst" "2.84273E-5" "00000" "CYP4V2_000062" "g.187130348C>T" "" "{PMID:Garcia-Garcia 2018:29691984}" "" "CYP4V2 c.1327C>T, p.(Arg443Trp)" "compound heterozygous" "Germline" "yes" "rs777774802" "0" "" "" "g.186209194C>T" "" "likely pathogenic" "" "0000867714" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867715" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867716" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867717" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867718" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867719" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867720" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867721" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867722" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867723" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867724" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867725" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867726" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867727" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867728" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867729" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867730" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867731" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867732" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867733" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867734" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867735" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867736" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867737" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867738" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867739" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867740" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867741" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867742" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867743" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867744" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867745" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867746" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867747" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867748" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867749" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867750" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867751" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867752" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867753" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867754" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867755" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867756" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867757" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867758" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867759" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867760" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867761" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867762" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867763" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867764" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867765" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867766" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867767" "3" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867768" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867769" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867770" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867771" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867772" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867773" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867774" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867775" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867776" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867777" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867778" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867779" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867780" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867781" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867782" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867783" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867784" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867785" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867786" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867787" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867788" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867789" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867790" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867791" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867792" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867793" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867794" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867795" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867796" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867797" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867798" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867799" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867800" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867801" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867802" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867803" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867804" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867805" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867806" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867807" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867808" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867809" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867810" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867811" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867812" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867813" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867814" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867815" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867816" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867817" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "ACMG" "0000867818" "1" "70" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-8_810 del17insGC, Exon7del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "likely pathogenic" "" "0000867819" "3" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1091-2A>G, Exon9del" "homozygous" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000867820" "3" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1091-2A>G, Exon9del" "homozygous" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000867821" "1" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1091-2A>G, Exon9del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000867822" "1" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1091-2A>G, Exon9del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000867823" "1" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1091-2A>G, Exon9del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000867824" "1" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1091-2A>G, Exon9del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000867825" "3" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.992A>C, p.H331P" "homozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "ACMG" "0000867826" "3" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.992A>C, p.H331P" "homozygous" "Germline" "yes" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "ACMG" "0000867827" "1" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.992A>C, p.H331P" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "ACMG" "0000867828" "1" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.992A>C, p.H331P" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "ACMG" "0000867829" "1" "70" "4" "187115658" "187115658" "subst" "4.06134E-6" "00000" "CYP4V2_000073" "g.187115658T>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.219T>A, p.F73L" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186194504T>A" "" "likely pathogenic" "ACMG" "0000867830" "1" "70" "4" "187115658" "187115658" "subst" "4.06134E-6" "00000" "CYP4V2_000073" "g.187115658T>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.219T>A, p.F73L" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186194504T>A" "" "likely pathogenic" "ACMG" "0000867831" "1" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.283G>A , p.G95R" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186194568G>A" "" "likely pathogenic" "ACMG" "0000867832" "1" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.283G>A , p.G95R" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186194568G>A" "" "likely pathogenic" "ACMG" "0000867833" "1" "90" "4" "187117164" "187117164" "subst" "0" "00000" "CYP4V2_000095" "g.187117164T>G" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.335T>G, p.L112X" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186196010T>G" "" "pathogenic" "ACMG" "0000867834" "1" "90" "4" "187117164" "187117164" "subst" "0" "00000" "CYP4V2_000095" "g.187117164T>G" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.335T>G, p.L112X" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186196010T>G" "" "pathogenic" "ACMG" "0000867835" "1" "90" "4" "187120168" "187120168" "subst" "0" "00000" "CYP4V2_000054" "g.187120168G>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.732G>A, p.W244X" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186199014G>A" "" "pathogenic" "ACMG" "0000867836" "1" "90" "4" "187120168" "187120168" "subst" "0" "00000" "CYP4V2_000054" "g.187120168G>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.732G>A, p.W244X" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186199014G>A" "" "pathogenic" "ACMG" "0000867837" "1" "70" "4" "187131725" "187131725" "subst" "0" "00000" "CYP4V2_000139" "g.187131725G>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1508G>A, p.G503E" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186210571G>A" "" "likely pathogenic" "ACMG" "0000867838" "1" "90" "4" "187115653" "187115653" "subst" "0" "00000" "CYP4V2_000123" "g.187115653G>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.215-1G>A, Exon2del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186194499G>A" "" "pathogenic" "ACMG" "0000867839" "3" "90" "4" "187126438" "187126438" "subst" "4.06055E-6" "00000" "CYP4V2_000102" "g.187126438G>T" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1072G>T, p.E358X" "homozygous" "Unknown" "?" "" "0" "" "" "g.186205284G>T" "" "pathogenic" "ACMG" "0000867840" "1" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.992A>C, p.H331P" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "ACMG" "0000867841" "2" "70" "4" "187113042" "187113042" "subst" "0" "00000" "CYP4V2_000093" "g.187113042T>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.65T>A, p.L22H" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186191888T>A" "" "likely pathogenic" "ACMG" "0000867842" "2" "70" "4" "187115658" "187115658" "subst" "4.06134E-6" "00000" "CYP4V2_000073" "g.187115658T>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.219T>A, p.F73L" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186194504T>A" "" "likely pathogenic" "ACMG" "0000867843" "2" "70" "4" "187115658" "187115658" "subst" "4.06134E-6" "00000" "CYP4V2_000073" "g.187115658T>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.219T>A, p.F73L" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186194504T>A" "" "likely pathogenic" "ACMG" "0000867844" "2" "70" "4" "187115658" "187115658" "subst" "4.06134E-6" "00000" "CYP4V2_000073" "g.187115658T>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.219T>A, p.F73L" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186194504T>A" "" "likely pathogenic" "ACMG" "0000867845" "2" "70" "4" "187115658" "187115658" "subst" "4.06134E-6" "00000" "CYP4V2_000073" "g.187115658T>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.219T>A, p.F73L" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186194504T>A" "" "likely pathogenic" "ACMG" "0000867846" "2" "50" "4" "187115693" "187115693" "subst" "0.000142123" "00000" "CYP4V2_000124" "g.187115693G>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.254G>A, p.R85H" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186194539G>A" "" "VUS" "ACMG" "0000867847" "2" "70" "4" "187115692" "187115692" "subst" "4.06068E-6" "00000" "CYP4V2_000110" "g.187115692C>T" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.253C>T, p.R85C" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186194538C>T" "" "likely pathogenic" "ACMG" "0000867848" "2" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.283G>A , p.G95R" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186194568G>A" "" "likely pathogenic" "ACMG" "0000867849" "2" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.283G>A , p.G95R" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186194568G>A" "" "likely pathogenic" "ACMG" "0000867850" "2" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.283G>A , p.G95R" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186194568G>A" "" "likely pathogenic" "ACMG" "0000867851" "2" "90" "4" "187117164" "187117164" "subst" "0" "00000" "CYP4V2_000095" "g.187117164T>G" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.335T>G, p.L112X" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186196010T>G" "" "pathogenic" "ACMG" "0000867852" "2" "50" "4" "187117197" "187117197" "subst" "0" "00000" "CYP4V2_000126" "g.187117197T>G" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.368T>G, p.M123R" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186196043T>G" "" "VUS" "ACMG" "0000867853" "2" "90" "4" "187120168" "187120168" "subst" "0" "00000" "CYP4V2_000054" "g.187120168G>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.732G>A, p.W244X" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186199014G>A" "" "pathogenic" "ACMG" "0000867854" "2" "90" "4" "187122467" "187122467" "subst" "4.06075E-6" "00000" "CYP4V2_000017" "g.187122467C>T" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.958C>T, p.R320X" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201313C>T" "" "pathogenic" "ACMG" "0000867855" "2" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.992A>C, p.H331P" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "ACMG" "0000867856" "2" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.992A>C, p.H331P" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "ACMG" "0000867857" "2" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.992A>C, p.H331P" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "ACMG" "0000867858" "2" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.992A>C, p.H331P" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "ACMG" "0000867859" "2" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.992A>C, p.H331P" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "ACMG" "0000867860" "2" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.992A>C, p.H331P" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "ACMG" "0000867861" "2" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.992A>C, p.H331P" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "ACMG" "0000867862" "2" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.992A>C, p.H331P" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "ACMG" "0000867863" "2" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.992A>C, p.H331P" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "ACMG" "0000867864" "2" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.992A>C, p.H331P" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "ACMG" "0000867865" "2" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.992A>C, p.H331P" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "ACMG" "0000867866" "2" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.992A>C, p.H331P" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "ACMG" "0000867867" "2" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.992A>C, p.H331P" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "ACMG" "0000867868" "2" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.992A>C, p.H331P" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "ACMG" "0000867869" "2" "70" "4" "187126360" "187126360" "subst" "0" "00000" "CYP4V2_000132" "g.187126360G>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.994G>A, p.D332N" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205206G>A" "" "likely pathogenic" "ACMG" "0000867870" "2" "90" "4" "187126386" "187126386" "subst" "4.06055E-6" "00000" "CYP4V2_000004" "g.187126386G>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1020G>A, p.W340X" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205232G>A" "" "pathogenic" "ACMG" "0000867871" "2" "90" "4" "187126428" "187126428" "dup" "0" "00000" "CYP4V2_000101" "g.187126428dup" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1062dupA, p.V355Sfs*4" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205274dup" "" "pathogenic" "ACMG" "0000867872" "2" "90" "4" "187126428" "187126428" "dup" "0" "00000" "CYP4V2_000101" "g.187126428dup" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1062dupA, p.V355Sfs*4" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186205274dup" "" "pathogenic" "ACMG" "0000867873" "2" "70" "4" "187130097" "187130097" "subst" "2.84243E-5" "00000" "CYP4V2_000020" "g.187130097G>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1169G>A, p.R390H" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208943G>A" "" "likely pathogenic" "ACMG" "0000867874" "2" "70" "4" "187130096" "187130096" "subst" "2.84245E-5" "00000" "CYP4V2_000019" "g.187130096C>T" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1168C>T, p.R390C" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186208942C>T" "" "likely pathogenic" "ACMG" "0000867875" "2" "70" "4" "187130096" "187130096" "subst" "2.84245E-5" "00000" "CYP4V2_000019" "g.187130096C>T" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1168C>T, p.R390C" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208942C>T" "" "likely pathogenic" "ACMG" "0000867876" "2" "70" "4" "187130126" "187130126" "subst" "4.87282E-5" "00000" "CYP4V2_000023" "g.187130126C>T" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1198C>T, p.R400C" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186208972C>T" "" "likely pathogenic" "ACMG" "0000867877" "2" "70" "4" "187130126" "187130126" "subst" "4.87282E-5" "00000" "CYP4V2_000023" "g.187130126C>T" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1198C>T, p.R400C" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208972C>T" "" "likely pathogenic" "ACMG" "0000867878" "2" "70" "4" "187130144" "187130144" "subst" "1.21819E-5" "00000" "CYP4V2_000134" "g.187130144T>C" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1216T>C, p.C406R" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186208990T>C" "" "likely pathogenic" "ACMG" "0000867879" "2" "70" "4" "187130299" "187130299" "subst" "0" "00000" "CYP4V2_000135" "g.187130299G>T" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1278G>T, p.L426F" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186209145G>T" "" "likely pathogenic" "ACMG" "0000867880" "2" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1091-2A>G, Exon9del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000867881" "2" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1091-2A>G, Exon9del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000867882" "2" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1091-2A>G, Exon9del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000867883" "2" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1091-2A>G, Exon9del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000867884" "2" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1091-2A>G, Exon9del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000867885" "2" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1091-2A>G, Exon9del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000867886" "2" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1091-2A>G, Exon9del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000867887" "2" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1091-2A>G, Exon9del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000867888" "2" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1091-2A>G, Exon9del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000867889" "2" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1091-2A>G, Exon9del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000867890" "2" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1091-2A>G, Exon9del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "ACMG" "0000867891" "2" "90" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 Exon8del, Exon8del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "pathogenic" "ACMG" "0000867892" "2" "70" "4" "187115658" "187115658" "subst" "4.06134E-6" "00000" "CYP4V2_000073" "g.187115658T>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.219T>A, p.F73L" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186194504T>A" "" "likely pathogenic" "ACMG" "0000867893" "2" "70" "4" "187115658" "187115658" "subst" "4.06134E-6" "00000" "CYP4V2_000073" "g.187115658T>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.219T>A, p.F73L" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186194504T>A" "" "likely pathogenic" "ACMG" "0000867894" "2" "90" "4" "187126386" "187126386" "subst" "4.06055E-6" "00000" "CYP4V2_000004" "g.187126386G>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1020G>A, p.W340X" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205232G>A" "" "pathogenic" "ACMG" "0000867895" "2" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.992A>C, p.H331P" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "ACMG" "0000867896" "2" "90" "4" "187126428" "187126428" "dup" "0" "00000" "CYP4V2_000101" "g.187126428dup" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1062dupA, p.V355Sfs*4" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186205274dup" "" "pathogenic" "ACMG" "0000867897" "2" "70" "4" "187115722" "187115722" "subst" "4.46671E-5" "00000" "CYP4V2_000010" "g.187115722G>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.283G>A , p.G95R" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186194568G>A" "" "likely pathogenic" "ACMG" "0000867898" "2" "70" "4" "187120242" "187120242" "subst" "0" "00000" "CYP4V2_000129" "g.187120242G>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.801+5G>A, Exon6del" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186199088G>A" "" "likely pathogenic" "ACMG" "0000867899" "2" "70" "4" "187130126" "187130126" "subst" "4.87282E-5" "00000" "CYP4V2_000023" "g.187130126C>T" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1198C>T, p.R400C" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186208972C>T" "" "likely pathogenic" "ACMG" "0000867900" "2" "70" "4" "187115692" "187115692" "subst" "4.06068E-6" "00000" "CYP4V2_000110" "g.187115692C>T" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.253C>T, p.R85C" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186194538C>T" "" "likely pathogenic" "ACMG" "0000867901" "2" "90" "4" "187126386" "187126386" "subst" "4.06055E-6" "00000" "CYP4V2_000004" "g.187126386G>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1020G>A, p.W340X" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186205232G>A" "" "pathogenic" "ACMG" "0000867902" "2" "90" "4" "187130241" "187130256" "del" "0" "00000" "CYP4V2_000117" "g.187130241_187130256del" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1226-6_1235del16, A409Efs*3" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186209087_186209102del" "" "pathogenic" "ACMG" "0000867903" "2" "90" "4" "187117156" "187117156" "subst" "0" "00000" "CYP4V2_000041" "g.187117156G>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.328-1G>A, Exon3del" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186196002G>A" "" "pathogenic" "ACMG" "0000867904" "2" "70" "4" "187130421" "187130421" "subst" "0" "00000" "CYP4V2_000138" "g.187130421G>A" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1400G>A, p.C467Y" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186209267G>A" "" "likely pathogenic" "ACMG" "0000867905" "2" "90" "4" "187122467" "187122467" "subst" "4.06075E-6" "00000" "CYP4V2_000017" "g.187122467C>T" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.958C>T, p.R320X" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201313C>T" "" "pathogenic" "ACMG" "0000867906" "2" "90" "4" "187122467" "187122467" "subst" "4.06075E-6" "00000" "CYP4V2_000017" "g.187122467C>T" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.958C>T, p.R320X" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186201313C>T" "" "pathogenic" "ACMG" "0000867907" "2" "70" "4" "187130096" "187130096" "subst" "2.84245E-5" "00000" "CYP4V2_000019" "g.187130096C>T" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.1168C>T, p.R390C" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.186208942C>T" "" "likely pathogenic" "ACMG" "0000867908" "2" "70" "4" "187122302" "187122302" "subst" "0" "00000" "CYP4V2_000130" "g.187122302A>G" "" "{PMID:Zhang 2018:30429639}" "" "CYP4V2 c.802-9A>G, Altered splicing" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.186201148A>G" "" "likely pathogenic" "ACMG" "0000873503" "3" "70" "4" "187122305" "187122319" "del" "0" "00000" "CYP4V2_000076" "g.187122305_187122319del" "144" "{PMID:Sun 2018:30076350}" "" "CYP4V2 (NM_207352.3):c.802-6_810delATACAGGTCATCGCT" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.186201151_186201165del" "" "likely pathogenic" "" "0000886225" "0" "70" "4" "187117161" "187117161" "subst" "4.47085E-5" "02327" "CYP4V2_000011" "g.187117161T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000886226" "0" "70" "4" "187130127" "187130127" "subst" "5.68505E-5" "02327" "CYP4V2_000024" "g.187130127G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000886227" "0" "70" "4" "187130414" "187130414" "subst" "3.24934E-5" "02327" "CYP4V2_000030" "g.187130414A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000896462" "0" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "CYP4V2 c.802-8_810delinsGC(;)1091-2A>G; p.(Val268_Glu329del)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000896463" "0" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "Taiwan Biobank: 0.000989; GnomAD_exome_East: 0.000544; GnomAD_All: 0.0000477" "{PMID:Chen 2021:33608557}" "" "CYP4V2 c.802-8_810delinsGC(;)1091-2A>G; p.?" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "" "0000896477" "3" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "CYP4V2 c.[802-8_810delinsG];[C802-8_810delinsGC]; p.(Val268_Glu329del)" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000896500" "0" "70" "4" "187130127" "187130127" "subst" "5.68505E-5" "00000" "CYP4V2_000024" "g.187130127G>A" "Taiwan Biobank: 0.00033; GnomAD_exome_East: 0.000163; GnomAD_All: 0.0000636" "{PMID:Chen 2021:33608557}" "" "CYP4V2 c.1199G>A(;)1507G>C; p.(Arg400His)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.186208973G>A" "" "likely pathogenic" "" "0000896501" "0" "70" "4" "187131724" "187131724" "subst" "2.03082E-5" "00000" "CYP4V2_000106" "g.187131724G>C" "Taiwan Biobank: 0; GnomAD_exome_East: 0.000272; GnomAD_All: 0.0000199" "{PMID:Chen 2021:33608557}" "" "CYP4V2 c.1199G>A(;)1507G>C; p.(Gly503Arg)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.186210570G>C" "" "likely pathogenic" "" "0000896527" "3" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsG" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "CYP4V2 c.[802-8_810delinsG];[802-8_810delinsG]; p.?" "homozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsG" "" "pathogenic" "" "0000896547" "1" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "CYP4V2 c.[802-8_810delinsGC];[1199G>A]; p.(Val268_Glu329del)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000896548" "2" "70" "4" "187130127" "187130127" "subst" "5.68505E-5" "00000" "CYP4V2_000024" "g.187130127G>A" "Taiwan Biobank: 0.00033; GnomAD_exome_East: 0.000163; GnomAD_All: 0.0000636" "{PMID:Chen 2021:33608557}" "" "CYP4V2 c.[802-8_810delinsGC];[1199G>A]; p.(Arg400His)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.186208973G>A" "" "likely pathogenic" "" "0000896570" "3" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "Taiwan Biobank: 0.000989; GnomAD_exome_East: 0.000544; GnomAD_All: 0.0000477" "{PMID:Chen 2021:33608557}" "" "CYP4V2 c.[1091-2A>G];[1091-2A>G]; p.?" "homozygous" "Germline" "yes" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "" "0000896594" "0" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "CYP4V2 c.802-8_810delinsGC(;)1091-2A>G; p.(Val268_Glu329del)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000896595" "0" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "Taiwan Biobank: 0.000989; GnomAD_exome_East: 0.000544; GnomAD_All: 0.0000477" "{PMID:Chen 2021:33608557}" "" "CYP4V2 c.802-8_810delinsGC(;)1091-2A>G; p.?" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "" "0000896622" "0" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsG" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "CYP4V2 c.802-8_810delinsG(;)992A>C; p.?" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.186201149_186201165delinsG" "" "pathogenic" "" "0000896623" "0" "70" "4" "187126358" "187126358" "subst" "7.71505E-5" "00000" "CYP4V2_000018" "g.187126358A>C" "Taiwan Biobank: 0.00033; GnomAD_exome_East: 0.00103; GnomAD_All: 0.0000755" "{PMID:Chen 2021:33608557}" "" "CYP4V2 c.802-8_810delinsG(;)992A>C; p.(His331Pro)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.186205204A>C" "" "likely pathogenic" "" "0000896652" "0" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "CYP4V2 c.802-8_810delinsGC(;)1091-2A>G; p.(Val268_Glu329del)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000896653" "0" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "Taiwan Biobank: 0.000989; GnomAD_exome_East: 0.000544; GnomAD_All: 0.0000477" "{PMID:Chen 2021:33608557}" "" "CYP4V2 c.802-8_810delinsGC(;)1091-2A>G; p.?" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "" "0000896666" "0" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "CYP4V2 c.802-8_810delinsGC(;)1091-2A>G; p.(Val268_Glu329del)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000896667" "0" "90" "4" "187130017" "187130017" "subst" "4.8727E-5" "00000" "CYP4V2_000003" "g.187130017A>G" "Taiwan Biobank: 0.000989; GnomAD_exome_East: 0.000544; GnomAD_All: 0.0000477" "{PMID:Chen 2021:33608557}" "" "CYP4V2 c.802-8_810delinsGC(;)1091-2A>G; p.?" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.186208863A>G" "" "pathogenic" "" "0000896734" "0" "90" "4" "187120130" "187120130" "subst" "2.0311E-5" "00000" "CYP4V2_000013" "g.187120130C>T" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.0000199" "{PMID:Chen 2021:33608557}" "" "CYP4V2 c.694C>T(;)802-8_810delinsGC; p.(Arg232Ter)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.186198976C>T" "" "pathogenic" "" "0000896735" "0" "90" "4" "187122303" "187122319" "delins" "0" "00000" "CYP4V2_000001" "g.187122303_187122319delinsGC" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "CYP4V2 c.694C>T(;)802-8_810delinsGC; p.(Val268_Glu329del)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.186201149_186201165delinsGC" "" "pathogenic" "" "0000896742" "0" "70" "4" "187115676" "187115676" "subst" "0.000263951" "00000" "CYP4V2_000035" "g.187115676G>T" "Taiwan Biobank: 0.002637; GnomAD_exome_East: 0.00364; GnomAD_All: 0.000266" "{PMID:Chen 2021:33608557}" "" "CYP4V2 c.237G>T(;)367A>G; p.(Glu79Asp)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.186194522G>T" "" "likely pathogenic" "" "0000896743" "0" "70" "4" "187117196" "187117196" "subst" "0.000771661" "00000" "CYP4V2_000039" "g.187117196A>G" "Taiwan Biobank: 0.007251; GnomAD_exome_East: 0.00875; GnomAD_All: 0.000792" "{PMID:Chen 2021:33608557}" "" "CYP4V2 c.237G>T(;)367A>G; p.(Met123Val)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.186196042A>G" "" "likely pathogenic" "" "0000912096" "0" "70" "4" "187126393" "187126393" "subst" "0" "02327" "CYP4V2_000002" "g.187126393T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948310" "0" "50" "4" "187130306" "187130306" "subst" "4.06075E-6" "02327" "CYP4V2_000140" "g.187130306G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948311" "0" "30" "4" "187131696" "187131696" "subst" "0.000345304" "02330" "CYP4V2_000141" "g.187131696C>T" "" "" "" "CYP4V2(NM_207352.4):c.1479C>T (p.N493=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958262" "0" "90" "4" "187130127" "187130127" "subst" "5.68505E-5" "00006" "CYP4V2_000024" "g.187130127G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1_SUPPORTING, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.186208973G>A" "39254" "pathogenic (recessive)" "ACMG" "0000959170" "0" "50" "4" "187130129" "187130129" "subst" "2.03031E-5" "00006" "CYP4V2_000142" "g.187130129A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, BP4" "Germline" "" "" "0" "" "" "g.186208975A>G" "" "VUS" "ACMG" "0000963097" "0" "90" "4" "187115722" "187115722" "subst" "4.46671E-5" "02327" "CYP4V2_000010" "g.187115722G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001034475" "0" "50" "4" "187113021" "187113021" "subst" "0.000294379" "01804" "CYP4V2_000143" "g.187113021T>C" "" "" "" "CYP4V2(NM_207352.4):c.44T>C (p.(Leu15Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034476" "0" "50" "4" "187130367" "187130367" "subst" "0" "01804" "CYP4V2_000144" "g.187130367C>T" "" "" "" "CYP4V2(NM_207352.4):c.1346C>T (p.(Ala449Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CYP4V2 ## Count = 1059 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "0000000101" "00006030" "70" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400Cys)" "" "" "0000019529" "00006030" "95" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl?" "p.?" "6i_7" "" "0000019530" "00006030" "95" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "8i" "" "0000019531" "00006030" "95" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl?" "p.?" "6i_7" "" "0000019532" "00006030" "95" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "8i" "" "0000019533" "00006030" "95" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl?" "p.?" "6i_7" "" "0000019534" "00006030" "95" "1020" "0" "1020" "0" "c.1020G>A" "r.(?)" "p.(Trp340*)" "8" "" "0000019539" "00006030" "95" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl?" "p.?" "6i_7" "" "0000019540" "00006030" "75" "1027" "0" "1027" "0" "c.1027T>G" "r.(?)" "p.(Tyr343Asp)" "8" "" "0000130339" "00006030" "90" "71" "0" "71" "0" "c.71T>C" "r.(?)" "p.(Leu24Pro)" "1" "" "0000130340" "00006030" "90" "134" "0" "134" "0" "c.134A>C" "r.(?)" "p.(Gln45Pro)" "1" "" "0000130342" "00006030" "90" "134" "0" "134" "0" "c.134A>C" "r.(?)" "p.(Gln45Pro)" "1" "" "0000130343" "00006030" "90" "810" "0" "810" "0" "c.810del" "r.(?)" "p.(Glu271Asnfs*6)" "7" "" "0000130345" "00006030" "90" "810" "0" "810" "0" "c.810del" "r.(?)" "p.(Glu271Asnfs*6)" "7" "" "0000130347" "00006030" "90" "810" "0" "810" "0" "c.810del" "r.(?)" "p.(Glu271Asnfs*6)" "7" "" "0000130349" "00006030" "90" "810" "0" "810" "0" "c.810del" "r.(?)" "p.(Glu271Asnfs*6)" "7" "" "0000130351" "00006030" "90" "928" "0" "928" "0" "c.928G>T" "r.(?)" "p.(Glu310*)" "7" "" "0000130355" "00006030" "90" "1178" "0" "1178" "0" "c.1178C>T" "r.(?)" "p.(Pro393Leu)" "9" "" "0000130356" "00006030" "90" "1219" "0" "1219" "0" "c.1219G>T" "r.(?)" "p.(Glu407*)" "9" "" "0000130357" "00006030" "90" "1355" "0" "1355" "0" "c.1355G>A" "r.(?)" "p.(Arg452His)" "10" "" "0000130359" "00006030" "90" "1225" "1" "1225" "1" "c.1225+1G>A" "r.spl" "p.(Gly364_V408del)" "9i" "" "0000130360" "00006030" "90" "1444" "0" "1444" "0" "c.1444del" "r.(?)" "p.(Ser482Argfs*4)" "11" "" "0000130362" "00006030" "50" "64" "0" "64" "0" "c.64C>G" "r.(?)" "p.(Leu22Val)" "1" "" "0000130363" "00006030" "50" "64" "0" "64" "0" "c.64C>G" "r.(?)" "p.(Leu22Val)" "1" "" "0000130365" "00006030" "50" "64" "0" "64" "0" "c.64C>G" "r.(?)" "p.(Leu22Val)" "1" "" "0000130367" "00006030" "90" "197" "0" "197" "0" "c.197T>G" "r.(?)" "p.(Met66Arg)" "1" "" "0000130368" "00006030" "90" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "2" "" "0000130370" "00006030" "90" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "3" "" "0000130371" "00006030" "90" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "3" "" "0000130372" "00006030" "90" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "3" "" "0000130373" "00006030" "90" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "3" "" "0000130374" "00006030" "90" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "3" "" "0000130376" "00006030" "90" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "3" "" "0000130377" "00006030" "90" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "3" "" "0000130378" "00006030" "90" "677" "0" "677" "0" "c.677T>A" "r.(?)" "p.(Met226Lys)" "6" "" "0000130379" "00006030" "90" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232*)" "6" "" "0000130381" "00006030" "90" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232*)" "6" "" "0000130383" "00006030" "50" "775" "0" "775" "0" "c.775C>A" "r.(?)" "p.(Gln259Lys)" "6" "" "0000130384" "00006030" "50" "775" "0" "775" "0" "c.775C>A" "r.(?)" "p.(Gln259Lys)" "6" "" "0000130385" "00006030" "90" "775" "0" "775" "0" "c.775C>A" "r.(?)" "p.(Gln259Lys)" "6" "" "0000130386" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl?" "p.(Val268_Glu329del)" "6i_7" "" "0000130387" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl?" "p.(Val268_Glu329del)" "6i_7" "" "0000130388" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl?" "p.(Val268_Glu329del)" "6i_7" "" "0000130389" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl?" "p.(Val268_Glu329del)" "6i_7" "" "0000130390" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl?" "p.(Val268_Glu329del)" "6i_7" "" "0000130391" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl?" "p.(Val268_Glu329del)" "6i_7" "" "0000130393" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl?" "p.(Val268_Glu329del)" "6i_7" "" "0000130395" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl?" "p.(Val268_Glu329del)" "6i_7" "" "0000130397" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl?" "p.(Val268_Glu329del)" "6i_7" "" "0000130399" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl?" "p.(Val268_Glu329del)" "6i_7" "" "0000130401" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl?" "p.(Val268_Glu329del)" "6i_7" "" "0000130403" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl?" "p.(Val268_Glu329del)" "6i_7" "" "0000130405" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl?" "p.(Val268_Glu329del)" "6i_7" "" "0000130407" "00006030" "90" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "9" "" "0000130408" "00006030" "90" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "9" "" "0000130409" "00006030" "90" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "9" "" "0000130411" "00006030" "90" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "8" "" "0000130413" "00006030" "90" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "8" "" "0000130415" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.(Gly364_Val408del)" "8i" "" "0000130416" "00006030" "90" "1168" "0" "1168" "0" "c.1168C>T" "r.(?)" "p.(Arg390Cys)" "9" "" "0000130417" "00006030" "90" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "9" "" "0000130418" "00006030" "90" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400Cys)" "9" "" "0000130419" "00006030" "90" "1328" "0" "1328" "0" "c.1328G>A" "r.(?)" "p.(Arg443Gln)" "10" "" "0000130422" "00006030" "90" "1328" "0" "1328" "0" "c.1328G>A" "r.(?)" "p.(Arg443Gln)" "10" "" "0000130423" "00006030" "90" "1328" "0" "1328" "0" "c.1328G>A" "r.(?)" "p.(Arg443Gln)" "10" "" "0000130425" "00006030" "90" "1328" "0" "1328" "0" "c.1328G>A" "r.(?)" "p.(Arg443Gln)" "10" "" "0000130427" "00006030" "90" "1393" "0" "1393" "0" "c.1393A>G" "r.(?)" "p.(Arg465Gly)" "10" "" "0000130428" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.(Gly364_Val408del)" "8i" "" "0000130429" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.(Gly364_Val408del)" "8i" "" "0000130430" "00006030" "90" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232*)" "6" "" "0000130431" "00006030" "90" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320*)" "7" "" "0000130432" "00006030" "90" "130" "0" "130" "0" "c.130T>A" "r.(?)" "p.(Trp44Arg)" "1" "" "0000130433" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl?" "p.(Val268_Glu329del)" "6i_7" "" "0000130434" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl?" "p.(Val268_Glu329del)" "6i_7" "" "0000130435" "00006030" "50" "775" "0" "775" "0" "c.775C>A" "r.(?)" "p.(Gln259Lys)" "6" "" "0000130436" "00006030" "90" "1393" "0" "1393" "0" "c.1393A>G" "r.(?)" "p.(Arg465Gly)" "10" "" "0000130437" "00006030" "90" "1027" "0" "1027" "0" "c.1027T>G" "r.(?)" "p.(Tyr343Asp)" "8" "" "0000130438" "00006030" "90" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400His)" "9" "" "0000130439" "00006030" "90" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "8" "" "0000130440" "00006030" "90" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "9" "" "0000130441" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.(Gly364_Val408del)" "8i" "" "0000130442" "00006030" "90" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "9" "" "0000130443" "00006030" "90" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "9" "" "0000130444" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.(Gly364_Val408del)" "8i" "" "0000130445" "00006030" "90" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "9" "" "0000130446" "00006030" "90" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400His)" "9" "" "0000130447" "00006030" "90" "1187" "0" "1187" "0" "c.1187C>T" "r.(?)" "p.(Pro396Leu)" "9" "" "0000130448" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.(Gly364_Val408del)" "8i" "" "0000130449" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.(Gly364_Val408del)" "8i" "" "0000130450" "00006030" "90" "1372" "0" "1372" "0" "c.1372G>A" "r.(?)" "p.(Val458Met)" "10" "" "0000130451" "00006030" "90" "1372" "0" "1372" "0" "c.1372G>A" "r.(?)" "p.(Val458Met)" "10" "" "0000147129" "00006030" "90" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "8" "" "0000147130" "00006030" "90" "802" "-8" "807" "0" "c.802-8_807del" "r.802_987del" "p.Val268_Glu329del" "6i_7" "" "0000147131" "00006030" "90" "802" "-8" "807" "0" "c.802-8_807del" "r.(802_987del)" "p.(Val268_Glu329del)" "6i_7" "" "0000147132" "00006030" "90" "802" "-8" "807" "0" "c.802-8_807del" "r.(802_987del)" "p.(Val268_Glu329del)" "6i_7" "" "0000147133" "00006030" "90" "802" "-8" "807" "0" "c.802-8_807del" "r.(802_987del)" "p.(Val268_Glu329del)" "6i_7" "" "0000147134" "00006030" "90" "802" "-8" "807" "0" "c.802-8_807del" "r.(802_987del)" "p.(Val268_Glu329del)" "6i_7" "" "0000147135" "00006030" "90" "802" "-8" "807" "0" "c.802-8_807del" "r.(802_987del)" "p.(Val268_Glu329del)" "6i_7" "" "0000147136" "00006030" "90" "802" "-8" "807" "0" "c.802-8_807del" "r.(802_987del)" "p.(Val268_Glu329del)" "6i_7" "" "0000147137" "00006030" "90" "802" "-8" "807" "0" "c.802-8_807del" "r.(802_987del)" "p.(Val268_Glu329del)" "6i_7" "" "0000147138" "00006030" "90" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "3" "" "0000147139" "00006030" "90" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "3" "" "0000147140" "00006030" "90" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Gly61Ser)" "1" "" "0000147141" "00006030" "90" "802" "-8" "807" "0" "c.802-8_807del" "r.(802_987del)" "p.(Val268_Glu329del)" "6i_7" "" "0000147142" "00006030" "90" "1523" "0" "1523" "0" "c.1523C>A" "r.(?)" "p>(Arg508His)" "11" "" "0000147143" "00006030" "90" "802" "-8" "807" "0" "c.802-8_807del" "r.(802_987del)" "p.(Val268_Glu329del)" "6i_7" "" "0000147144" "00006030" "90" "237" "0" "237" "0" "c.237G>T" "r.(?)" "p.(Glu79Asp)" "2" "" "0000147145" "00006030" "90" "327" "1" "327" "1" "c.327+1G>A" "r.spl" "p.?" "2i" "" "0000147146" "00006030" "90" "802" "-8" "807" "0" "c.802-8_807del" "r.(802_987del)" "p.(Val268_Glu329del)" "6i_7" "" "0000147147" "00006030" "90" "802" "-8" "807" "0" "c.802-8_807del" "r.(802_987del)" "p.(Val268_Glu329del)" "6i_7" "" "0000147148" "00006030" "90" "130" "0" "130" "0" "c.130T>A" "r.(?)" "p.(Trp44Arg)" "1" "" "0000147149" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "8i" "" "0000147150" "00006030" "90" "802" "-8" "807" "0" "c.802-8_807del" "r.(802_987del)" "p.(Val268_Glu329del)" "6i_7" "" "0000147151" "00006030" "90" "1021" "0" "1021" "0" "c.1021T>C" "r.(?)" "p.(Ser341Pro)" "8" "" "0000147152" "00006030" "90" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "8" "" "0000147153" "00006030" "90" "802" "-8" "807" "0" "c.802-8_807del" "r.(802_987del)" "p.(Val268_Glu329del)" "6i_7" "" "0000147154" "00006030" "90" "400" "0" "400" "0" "c.400G>T" "r.(?)" "p.(Gly134*)" "3" "" "0000147155" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "8i" "" "0000147156" "00006030" "90" "367" "0" "367" "0" "c.367A>G" "r.(?)" "p.(Met123Val)" "3" "" "0000147157" "00006030" "50" "327" "25" "327" "25" "c.327+25del" "r.spl?" "p.(=)" "2i" "" "0000147158" "00006030" "90" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "3" "" "0000147159" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "8i" "" "0000147160" "00006030" "90" "328" "-1" "328" "-1" "c.328-1G>A" "r.spl" "p.?" "2i" "" "0000265173" "00006030" "30" "1328" "0" "1328" "0" "c.1328G>A" "r.(?)" "p.(Arg443Gln)" "" "" "0000265174" "00006030" "10" "64" "0" "64" "0" "c.64C>G" "r.(?)" "p.(Leu22Val)" "" "" "0000265175" "00006030" "10" "99" "0" "99" "0" "c.99G>A" "r.(?)" "p.(Leu33=)" "" "" "0000267259" "00006030" "10" "64" "0" "64" "0" "c.64C>G" "r.(?)" "p.(Leu22Val)" "" "" "0000267260" "00006030" "10" "775" "0" "775" "0" "c.775C>A" "r.(?)" "p.(Gln259Lys)" "" "" "0000267261" "00006030" "10" "802" "-7" "802" "-7" "c.802-7C>T" "r.(=)" "p.(=)" "" "" "0000267262" "00006030" "10" "810" "0" "810" "0" "c.810T>G" "r.(?)" "p.(Ala270=)" "" "" "0000267263" "00006030" "10" "846" "0" "846" "0" "c.846T>C" "r.(?)" "p.(Cys282=)" "" "" "0000274724" "00006030" "50" "1372" "0" "1372" "0" "c.1372G>A" "r.(?)" "p.(Val458Met)" "" "" "0000274725" "00006030" "30" "1446" "0" "1446" "0" "c.1446G>A" "r.(?)" "p.(Ser482=)" "" "" "0000274726" "00006030" "30" "24" "0" "24" "0" "c.24C>T" "r.(?)" "p.(Leu8=)" "" "" "0000337400" "00006030" "30" "-302" "0" "-302" "0" "c.-302G>A" "r.(?)" "p.(=)" "" "" "0000337401" "00006030" "10" "-296" "0" "-296" "0" "c.-296A>C" "r.(?)" "p.(=)" "" "" "0000337402" "00006030" "10" "-152" "0" "-152" "0" "c.-152A>G" "r.(?)" "p.(=)" "" "" "0000337403" "00006030" "30" "-146" "0" "-146" "0" "c.-146C>T" "r.(?)" "p.(=)" "" "" "0000337404" "00006030" "10" "327" "11" "327" "11" "c.327+11G>C" "r.(=)" "p.(=)" "" "" "0000339581" "00006030" "10" "810" "0" "810" "0" "c.810T>G" "r.(?)" "p.(Ala270=)" "" "" "0000339582" "00006030" "10" "846" "0" "846" "0" "c.846T>C" "r.(?)" "p.(Cys282=)" "" "" "0000341261" "00006030" "50" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Ala204Thr)" "" "" "0000342748" "00006030" "50" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Arg368His)" "" "" "0000344712" "00006030" "10" "775" "0" "775" "0" "c.775C>A" "r.(?)" "p.(Gln259Lys)" "" "" "0000347009" "00006030" "10" "64" "0" "64" "0" "c.64C>G" "r.(?)" "p.(Leu22Val)" "" "" "0000349741" "00006030" "90" "732" "0" "732" "0" "c.732G>A" "r.(?)" "p.(Trp244Ter)" "" "" "0000350990" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl?" "p.?" "" "" "0000358246" "00006030" "90" "1123" "0" "1123" "0" "c.1123del" "r.(?)" "p.(Leu375*)" "9" "" "0000476415" "00006030" "50" "64" "0" "64" "0" "c.64C>G" "r.(?)" "p.(Leu22Val)" "" "" "0000476416" "00006030" "50" "106" "0" "106" "0" "c.106A>G" "r.(?)" "p.(Arg36Gly)" "" "" "0000476417" "00006030" "50" "152" "0" "152" "0" "c.152C>T" "r.(?)" "p.(Pro51Leu)" "" "" "0000476418" "00006030" "50" "367" "0" "367" "0" "c.367A>G" "r.(?)" "p.(Met123Val)" "" "" "0000476419" "00006030" "10" "775" "0" "775" "0" "c.775C>A" "r.(?)" "p.(Gln259Lys)" "" "" "0000476420" "00006030" "50" "780" "0" "780" "0" "c.780C>G" "r.(?)" "p.(Ile260Met)" "" "" "0000476421" "00006030" "50" "959" "0" "959" "0" "c.959G>T" "r.(?)" "p.(Arg320Leu)" "" "" "0000476422" "00006030" "90" "1020" "0" "1020" "0" "c.1020G>A" "r.(?)" "p.(Trp340*)" "" "" "0000476423" "00006030" "50" "1229" "0" "1229" "0" "c.1229G>T" "r.(?)" "p.(Gly410Val)" "" "" "0000476424" "00006030" "50" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Trp)" "" "" "0000476425" "00006030" "90" "1372" "0" "1372" "0" "c.1372G>A" "r.(?)" "p.(Val458Met)" "" "" "0000477486" "00006030" "50" "64" "0" "64" "0" "c.64C>G" "r.(?)" "p.(Leu22Val)" "" "" "0000477487" "00006030" "10" "775" "0" "775" "0" "c.775C>A" "r.(?)" "p.(Gln259Lys)" "" "" "0000522270" "00006030" "50" "237" "0" "237" "0" "c.237G>T" "r.(?)" "p.(Glu79Asp)" "" "" "0000522271" "00006030" "50" "367" "0" "367" "0" "c.367A>G" "r.(?)" "p.(Met123Val)" "" "" "0000522272" "00006030" "30" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Ala204Thr)" "" "" "0000522273" "00006030" "30" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Ala204Thr)" "" "" "0000522274" "00006030" "10" "674" "14" "674" "14" "c.674+14T>C" "r.(=)" "p.(=)" "" "" "0000522275" "00006030" "50" "1178" "0" "1178" "0" "c.1178C>T" "r.(?)" "p.(Pro393Leu)" "" "" "0000522276" "00006030" "50" "1328" "0" "1328" "0" "c.1328G>A" "r.(?)" "p.(Arg443Gln)" "" "" "0000522277" "00006030" "10" "1446" "0" "1446" "0" "c.1446G>A" "r.(?)" "p.(Ser482=)" "" "" "0000609166" "00006030" "30" "8" "0" "8" "0" "c.8G>A" "r.(?)" "p.(Gly3Glu)" "" "" "0000609167" "00006030" "90" "400" "0" "400" "0" "c.400G>T" "r.(?)" "p.(Gly134Ter)" "" "" "0000651462" "00006030" "50" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Ala204Thr)" "" "" "0000651463" "00006030" "30" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Glu275Lys)" "" "" "0000651464" "00006030" "90" "974" "0" "974" "0" "c.974C>T" "r.(?)" "p.(Thr325Ile)" "" "" "0000651465" "00006030" "70" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400His)" "" "" "0000651466" "00006030" "90" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.(Arg508His)" "" "" "0000655132" "00006030" "90" "413" "1" "413" "1" "c.413+1G>A" "r.spl?" "p.?" "" "" "0000685185" "00006030" "90" "120" "0" "120" "0" "c.120C>G" "r.(?)" "p.(Tyr40*)" "" "" "0000685186" "00006030" "90" "1123" "0" "1123" "0" "c.1123del" "r.(?)" "p.(Leu375*)" "" "" "0000713357" "00006030" "90" "197" "0" "197" "0" "c.197T>G" "r.(?)" "p.(Met66Arg)" "" "" "0000729743" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.(Val268fs)" "" "" "0000729744" "00006030" "70" "710" "0" "710" "0" "c.710C>A" "r.(?)" "p.(Pro237His)" "" "" "0000729782" "00006030" "90" "1020" "0" "1020" "0" "c.1020G>A" "r.(?)" "p.(Trp340*)" "" "" "0000729783" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.(Val268fs)" "" "" "0000732473" "00006030" "50" "40" "0" "40" "0" "c.40C>G" "r.(?)" "p.(Leu14Val)" "" "" "0000734383" "00006030" "50" "1020" "0" "1020" "0" "c.1020G>A" "r.(?)" "p.(Trp340*)" "" "" "0000734384" "00006030" "50" "1020" "0" "1020" "0" "c.1020G>A" "r.(?)" "p.(Trp340*)" "" "" "0000734385" "00006030" "50" "1126" "0" "1126" "0" "c.1126A>G" "r.(?)" "p.(Lys376Glu)" "" "" "0000734406" "00006030" "50" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.(?)" "p.?" "" "" "0000734407" "00006030" "50" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.(?)" "p.?" "" "" "0000736057" "00006030" "90" "219" "0" "219" "0" "c.219T>A" "r.(?)" "p.(Phe73Leu)" "" "" "0000736062" "00006030" "90" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000736063" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delins2" "r.spl" "p.?" "" "" "0000736066" "00006030" "90" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000736069" "00006030" "90" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000736083" "00006030" "70" "219" "0" "219" "0" "c.219T>A" "r.(?)" "p.(Phe73Leu)" "" "" "0000736117" "00006030" "90" "802" "-6" "810" "0" "c.802-6_810del" "r.spl" "p.?" "" "" "0000736118" "00006030" "90" "219" "0" "219" "0" "c.219T>A" "r.(?)" "p.(Phe73Leu)" "" "" "0000736119" "00006030" "90" "810" "0" "810" "0" "c.810del" "r.(?)" "p.(Glu271Asnfs*6)" "" "" "0000736121" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000736127" "00006030" "70" "366" "0" "366" "0" "c.366dup" "r.(?)" "p.(Met123Tyrfs*46)" "" "" "0000764113" "00006030" "70" "610" "0" "610" "0" "c.610G>A" "r.610g>a" "p.(Ala204Thr)" "5" "" "0000764148" "00006030" "30" "214" "879" "214" "882" "c.214+879_214+882delinsG" "r.=" "p.(=)" "1i" "" "0000764905" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "" "" "0000764932" "00006030" "70" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400Cys)" "" "" "0000766049" "00006030" "90" "1123" "0" "1123" "0" "c.1123del" "r.(?)" "p.(Leu375*)" "" "" "0000766050" "00006030" "90" "1123" "0" "1123" "0" "c.1123del" "r.(?)" "p.(Leu375*)" "" "" "0000785552" "00006030" "90" "802" "-8" "807" "0" "c.802-8_807delinsGC" "r.spl" "p.?" "" "" "0000785553" "00006030" "90" "802" "-8" "807" "0" "c.802-8_807delinsGC" "r.spl" "p.?" "" "" "0000785558" "00006030" "90" "802" "-8" "807" "0" "c.802-8_807delinsGC" "r.spl" "p.?" "" "" "0000785562" "00006030" "90" "802" "-8" "807" "0" "c.802-8_807delinsGC" "r.spl" "p.?" "" "" "0000785563" "00006030" "90" "802" "-8" "807" "0" "c.802-8_807delinsGC" "r.spl" "p.?" "" "" "0000785564" "00006030" "90" "802" "-8" "807" "0" "c.802-8_807delinsGC" "r.spl" "p.?" "" "" "0000785583" "00006030" "90" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000785584" "00006030" "90" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000785585" "00006030" "90" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000786437" "00006030" "90" "367" "0" "367" "0" "c.367A>G" "r.(?)" "p.(Met123Val)" "" "" "0000787629" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000787631" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000787654" "00006030" "70" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232Ter)" "" "" "0000787660" "00006030" "70" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Ter)" "" "" "0000787666" "00006030" "70" "1027" "0" "1027" "0" "c.1027T>G" "r.(?)" "p.(Tyr343Asp)" "" "" "0000787693" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000787694" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000787695" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000787702" "00006030" "70" "810" "0" "810" "0" "c.810del" "r.(?)" "p.(Glu271AsnfsTer6)" "" "" "0000787704" "00006030" "70" "810" "0" "810" "0" "c.810del" "r.(?)" "p.(Glu271AsnfsTer6)" "" "" "0000787711" "00006030" "70" "810" "0" "810" "0" "c.810del" "r.(?)" "p.(Glu271AsnfsTer6)" "" "" "0000787713" "00006030" "70" "810" "0" "810" "0" "c.810del" "r.(?)" "p.(Glu271AsnfsTer6)" "" "" "0000787715" "00006030" "70" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232Ter)" "" "" "0000787729" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000788366" "00006030" "50" "367" "0" "367" "0" "c.367A>G" "r.(?)" "p.(Met123Val)" "3" "" "0000788400" "00006030" "50" "367" "0" "367" "0" "c.367A>G" "r.(?)" "p.(Met123Val)" "3" "" "0000788518" "00006030" "50" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "8" "" "0000794098" "00006030" "70" "675" "-1" "675" "-1" "c.675-1G>A" "r.spl?" "p.?" "" "" "0000794099" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "" "" "0000794245" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000794246" "00006030" "70" "1020" "0" "1020" "0" "c.1020G>A" "r.(?)" "p.(Trp340*)" "" "" "0000794310" "00006030" "90" "214" "1" "214" "1" "c.214+1G>T" "r.spl" "p.?" "1i" "" "0000794311" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "8i" "" "0000794312" "00006030" "90" "215" "-2" "215" "-2" "c.215-2A>G" "r.spl" "p.?" "1i" "" "0000794313" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7i_8" "" "0000794314" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "8i" "" "0000794315" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7i_8" "" "0000794316" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "8i" "" "0000794317" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7i_8" "" "0000794318" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7i_8" "" "0000795953" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "2" "" "0000796022" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810del17insGC" "r.(?)" "p.?" "6i_7" "" "0000796023" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000796024" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810del17insGC" "r.(?)" "p.?" "6i_7" "" "0000796041" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000796042" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000796043" "00006030" "70" "1396" "0" "1396" "0" "c.1396A>G" "r.(?)" "p.(Asn466Asp)" "10" "" "0000796910" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000796911" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810del17insGC" "r.?" "p.?" "6i_7" "" "0000796912" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000796913" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810del17insGC" "r.?" "p.?" "6i_7" "" "0000796914" "00006030" "90" "1020" "0" "1020" "0" "c.1020G>A" "r.(?)" "p.(Trp340*)" "8" "" "0000796915" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810del17insGC" "r.?" "p.?" "6i_7" "" "0000796920" "00006030" "90" "1027" "0" "1027" "0" "c.1027T>G" "r.(?)" "p.(Tyr343Asp)" "8" "" "0000796921" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810del17insGC" "r.?" "p.?" "6i_7" "" "0000801601" "00006030" "90" "802" "-8" "807" "0" "c.802-8_807del" "r.spl?" "p.?" "" "" "0000801602" "00006030" "90" "810" "0" "810" "0" "c.810del" "r.(?)" "p.(Glu271Asnfs*6)" "" "" "0000801603" "00006030" "10" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Val372Ile)" "" "" "0000801604" "00006030" "50" "1184" "0" "1184" "0" "c.1184T>C" "r.(?)" "p.(Val395Ala)" "" "" "0000811880" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "" "" "0000812556" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delins17" "r.spl" "p.(?)" "" "" "0000812560" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.(?)" "" "" "0000812561" "00006030" "90" "810" "0" "810" "0" "c.810del" "r.(?)" "p.(Glu271Asnfs*6)" "" "" "0000812670" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.(?)" "" "" "0000812672" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.(?)" "" "" "0000812698" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.(?)" "" "" "0000812699" "00006030" "70" "1187" "0" "1187" "0" "c.1187C>T" "r.(?)" "p.(Pro396Leu)" "" "" "0000812772" "00006030" "90" "810" "0" "810" "0" "c.810del" "r.(?)" "p.(Glu271Asnfs*6)" "" "" "0000812773" "00006030" "90" "1444" "0" "1444" "0" "c.1444del" "r.(?)" "p.(Ser482Argfs*4)" "" "" "0000812804" "00006030" "90" "810" "0" "810" "0" "c.810del" "r.(?)" "p.(Glu271Asnfs*6)" "" "" "0000812805" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "" "" "0000814258" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "8" "" "0000814259" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.(?)" "7" "" "0000814261" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "8" "" "0000814275" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "7" "" "0000814276" "00006030" "70" "367" "0" "367" "0" "c.367A>G" "r.(?)" "p.(Met123Val)" "3" "" "0000814289" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.(?)" "p.(?)" "" "" "0000814290" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.(?)" "p.(?)" "" "" "0000814292" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.(?)" "p.(?)" "" "" "0000814300" "00006030" "70" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(?)" "7" "" "0000814301" "00006030" "70" "237" "0" "237" "0" "c.237G>T" "r.(?)" "p.(Glu79Asp)" "2" "" "0000814754" "00006030" "90" "802" "-6" "810" "0" "c.802-6_810del" "r.spl" "p.(?)" "7" "" "0000814762" "00006030" "90" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "8" "" "0000814767" "00006030" "90" "802" "-6" "810" "0" "c.802-6_810del" "r.spl" "p.(?)" "7" "" "0000814768" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.(?)" "8i" "" "0000814777" "00006030" "50" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Ser138Asn)" "3" "" "0000814803" "00006030" "70" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400His)" "9" "" "0000814804" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsG" "r.(?)" "p.(?)" "7" "" "0000814810" "00006030" "90" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "8" "" "0000817331" "00006030" "90" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "2" "" "0000817620" "00006030" "70" "1090" "1" "1090" "1" "c.1090+1G>T" "r.spl" "p.(?)" "" "" "0000817621" "00006030" "70" "1480" "0" "1480" "0" "c.1480C>T" "r.(?)" "p.(Gln494Ter)" "" "" "0000818989" "00006030" "30" "0" "0" "0" "0" "c.-304_*2822{2}" "r.?" "p.?" "1_11" "" "0000819866" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "" "" "0000819867" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "" "" "0000819969" "00006030" "70" "400" "0" "400" "0" "c.400G>T" "r.(?)" "p.(Gly134*)" "" "" "0000819972" "00006030" "70" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400Cys)" "" "" "0000820741" "00006030" "70" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400Cys)" "" "" "0000820742" "00006030" "70" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400Cys)" "" "" "0000820772" "00006030" "70" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400Cys)" "" "" "0000821240" "00006030" "70" "197" "0" "197" "0" "c.197T>G" "r.(?)" "p.(Met66Arg)" "" "" "0000822443" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "2" "" "0000822444" "00006030" "70" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400Cys)" "9" "" "0000824658" "00006030" "70" "810" "0" "810" "0" "c.810del" "r.(?)" "p.(Glu271AsnfsTer6)" "" "" "0000824722" "00006030" "70" "571" "0" "571" "0" "c.571del" "r.(?)" "p.(Tyr191ThrfsTer7)" "" "" "0000824797" "00006030" "50" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000825675" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGT" "r.?" "p.?" "6i_7" "" "0000825677" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGT" "r.?" "p.?" "6i_7" "" "0000825678" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000825686" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGT" "r.?" "p.?" "6i_7" "" "0000825687" "00006030" "70" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400Cys)" "9" "" "0000825689" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000825690" "00006030" "70" "1297" "0" "1297" "0" "c.1297T>C" "r.(?)" "p.(Phe433Leu)" "10" "" "0000825691" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000825692" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000825693" "00006030" "70" "1168" "0" "1168" "0" "c.1168C>T" "r.(?)" "p.(Arg390Cys)" "9" "" "0000825713" "00006030" "70" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(His331Arg)" "8" "" "0000825714" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000825764" "00006030" "70" "214" "1" "214" "1" "c.214+1G>T" "r.spl?" "p.?" "1i" "" "0000825765" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000825766" "00006030" "70" "215" "-2" "215" "-2" "c.215-2A>G" "r.spl?" "p.?" "1i" "" "0000825771" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000825772" "00006030" "70" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(His331Arg)" "8" "" "0000825774" "00006030" "70" "335" "0" "335" "0" "c.335T>G" "r.(?)" "p.(Leu112*)" "3" "" "0000825777" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGT" "r.?" "p.?" "6i_7" "" "0000825778" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000825780" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000825789" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGT" "r.?" "p.?" "6i_7" "" "0000825790" "00006030" "70" "1544" "0" "1544" "0" "c.1544T>G" "r.?" "p.(Ile515Ser)" "11" "" "0000825791" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000825793" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGT" "r.?" "p.?" "6i_7" "" "0000825794" "00006030" "70" "414" "-4" "414" "0" "c.414-4_414delinsA" "r.spl?" "p.?" "3i_4" "" "0000825800" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000825801" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000825802" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000825804" "00006030" "70" "237" "0" "237" "0" "c.237G>T" "r.(?)" "p.(Glu79Asp)" "2" "" "0000825805" "00006030" "70" "367" "0" "367" "0" "c.367A>G" "r.(?)" "p.(Met123Val)" "3" "" "0000825807" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGT" "r.?" "p.?" "6i_7" "" "0000825809" "00006030" "70" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320*)" "7" "" "0000825810" "00006030" "70" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(His331Arg)" "8" "" "0000825811" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000825812" "00006030" "70" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(His331Arg)" "8" "" "0000825823" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000825824" "00006030" "70" "-304" "-1" "4400" "1" "c.-304-1_*2822+1del" "r.(?)" "p.?" "1_11" "" "0000825825" "00006030" "70" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320*)" "7" "" "0000825826" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000825830" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000825831" "00006030" "70" "214" "1" "214" "1" "c.214+1G>A" "r.spl?" "p.?" "1i" "" "0000825832" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000825833" "00006030" "70" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(His331Arg)" "8" "" "0000825834" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000825837" "00006030" "70" "1062" "0" "1062" "0" "c.1062dup" "r.(?)" "p.(Val355Serfs*4)" "8" "" "0000825838" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000825839" "00006030" "70" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(His331Arg)" "8" "" "0000825844" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000825847" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "2" "" "0000825848" "00006030" "70" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232*)" "6" "" "0000825853" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000825854" "00006030" "70" "1355" "0" "1355" "0" "c.1355G>A" "r.(?)" "p.(Arg452His)" "10" "" "0000825865" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "2" "" "0000825866" "00006030" "70" "1062" "0" "1062" "0" "c.1062dup" "r.(?)" "p.(Val355Serfs*4)" "8" "" "0000825870" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000825872" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000825873" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000825886" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000825889" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000825891" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000825910" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000825911" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000825918" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000825925" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000825926" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000825954" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000825955" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "2" "" "0000825963" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000825964" "00006030" "70" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(His331Arg)" "8" "" "0000825988" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "2" "" "0000825989" "00006030" "70" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(His331Arg)" "8" "" "0000825991" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000825992" "00006030" "70" "219" "0" "219" "0" "c.219T>A" "r.(?)" "p.(Phe73Leu)" "2" "" "0000826003" "00006030" "70" "65" "0" "65" "0" "c.65T>A" "r.(?)" "p.(Leu22His)" "1" "" "0000826004" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826009" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826037" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000826038" "00006030" "70" "1020" "0" "1020" "0" "c.1020G>A" "r.(?)" "p.(Trp340*)" "8" "" "0000826039" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGT" "r.(?)" "p.?" "" "" "0000826040" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000826060" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000826071" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000826081" "00006030" "70" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "9" "" "0000826082" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGT" "r.?" "p.?" "6i_7" "" "0000826097" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826114" "00006030" "70" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "9" "" "0000826120" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826167" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826168" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826174" "00006030" "70" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400His)" "9" "" "0000826175" "00006030" "70" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(His331Arg)" "8" "" "0000826203" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "2" "" "0000826204" "00006030" "70" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(His331Arg)" "8" "" "0000826208" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826213" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGT" "r.?" "p.?" "6i_7" "" "0000826214" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000826215" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826216" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826225" "00006030" "70" "237" "0" "237" "0" "c.237G>T" "r.(?)" "p.(Glu79Asp)" "2" "" "0000826226" "00006030" "70" "367" "0" "367" "0" "c.367A>G" "r.(?)" "p.(Met123Val)" "3" "" "0000826229" "00006030" "70" "219" "0" "219" "0" "c.219T>A" "r.(?)" "p.(Phe73Leu)" "2" "" "0000826230" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826231" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826241" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826243" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "2" "" "0000826244" "00006030" "70" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Leu136Phe)" "3" "" "0000826245" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "2" "" "0000826246" "00006030" "70" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(His331Arg)" "8" "" "0000826247" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826256" "00006030" "70" "10" "0" "10" "0" "c.10del" "r.(?)" "p.(Leu4Serfs*28)" "1" "" "0000826257" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826258" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826259" "00006030" "70" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "9" "" "0000826260" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826261" "00006030" "70" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "9" "" "0000826265" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826266" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000826268" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826269" "00006030" "70" "1062" "0" "1062" "0" "c.1062dup" "r.(?)" "p.(Val355Serfs*4)" "8" "" "0000826283" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826286" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826287" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826288" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826289" "00006030" "70" "1198" "0" "1198" "0" "c.1198C>G" "r.(?)" "p.(Arg400Gly)" "9" "" "0000826291" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826292" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826293" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826294" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000826299" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826300" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000826304" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826305" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826306" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000826307" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826308" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826309" "00006030" "70" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(His331Arg)" "8" "" "0000826313" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826314" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826319" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826329" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "2" "" "0000826330" "00006030" "70" "1297" "0" "1297" "0" "c.1297T>C" "r.(?)" "p.(Phe433Leu)" "10" "" "0000826340" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826345" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000826349" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826350" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl?" "p.?" "8i" "" "0000826359" "00006030" "70" "362" "0" "362" "0" "c.362C>A" "r.(?)" "p.(Ser121Tyr)" "3" "" "0000826360" "00006030" "70" "780" "0" "780" "0" "c.780C>G" "r.(?)" "p.(Ile260Met)" "6" "" "0000826377" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826378" "00006030" "70" "801" "2" "801" "2" "c.801+2T>C" "r.spl?" "p.?" "6i" "" "0000826379" "00006030" "70" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(His331Arg)" "8" "" "0000826398" "00006030" "70" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(His331Arg)" "8" "" "0000826399" "00006030" "70" "1062" "0" "1062" "0" "c.1062dup" "r.(?)" "p.(Val355Serfs*4)" "8" "" "0000826400" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.?" "p.?" "6i_7" "" "0000826404" "00006030" "70" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(His331Arg)" "8" "" "0000827610" "00006030" "90" "" "0" "" "0" "c.809_810C" "r.(?)" "p.(?)" "" "" "0000827620" "00006030" "70" "1072" "0" "1072" "0" "c.1072G>T" "r.(?)" "p.(Glu358Ter)" "" "" "0000827623" "00006030" "90" "" "0" "" "0" "c.809_810C" "r.(?)" "p.(?)" "" "" "0000827624" "00006030" "70" "" "0" "" "0" "c.802_807A" "r.(?)" "p.(?)" "" "" "0000827625" "00006030" "70" "675" "-1" "675" "-1" "c.675-1G>A" "r.spl" "p.(?)" "" "" "0000827626" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000827629" "00006030" "50" "219" "0" "219" "0" "c.219T>A" "r.(?)" "p.(Phe73Leu)" "" "" "0000827630" "00006030" "70" "802" "-8" "807" "0" "c.802-8_807del" "r.spl" "p.(?)" "" "" "0000828317" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000828739" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.(?)" "" "" "0000828740" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.(?)" "" "" "0000828741" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.(?)" "" "" "0000828742" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.(?)" "" "" "0000828745" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.(?)" "" "" "0000828753" "00006030" "70" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400His)" "" "" "0000828780" "00006030" "70" "237" "0" "237" "0" "c.237G>T" "r.(?)" "p.(Glu79Asp)" "" "" "0000828826" "00006030" "90" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232*)" "" "" "0000828831" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsG" "r.spl" "p.(?)" "" "" "0000828860" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsG" "r.spl" "p.(?)" "" "" "0000828907" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.(?)" "" "" "0000828933" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.(?)" "" "" "0000828944" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.(?)" "" "" "0000828945" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.(?)" "" "" "0000828946" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.(?)" "" "" "0000828947" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.(?)" "" "" "0000828950" "00006030" "70" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400His)" "" "" "0000828958" "00006030" "70" "1507" "0" "1507" "0" "c.1507G>C" "r.(?)" "p.(Gly503Arg)" "" "" "0000828985" "00006030" "70" "367" "0" "367" "0" "c.367A>G" "r.(?)" "p.(Met123Val)" "" "" "0000829031" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.(?)" "" "" "0000829036" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000847900" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810dellinsGC" "r.(?)" "p.?" "6" "" "0000847901" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810dellinsGC" "r.(?)" "p.?" "6" "" "0000847902" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810dellinsGC" "r.(?)" "p.?" "6" "" "0000847903" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810dellinsGC" "r.(?)" "p.?" "6" "" "0000847904" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810dellinsGC" "r.(?)" "p.?" "6" "" "0000847905" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810dellinsGC" "r.(?)" "p.?" "6" "" "0000847906" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810dellinsGC" "r.(?)" "p.?" "6" "" "0000847907" "00006030" "70" "518" "0" "518" "0" "c.518T>G" "r.(?)" "p.(Leu173Trp)" "6" "" "0000847908" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810dellinsGC" "r.(?)" "p.?" "6" "" "0000847909" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "6" "" "0000847910" "00006030" "70" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Gln450Ter)" "6" "" "0000847911" "00006030" "70" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Gln450Ter)" "6" "" "0000847915" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847916" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847917" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.(?)" "p.?" "" "" "0000847918" "00006030" "70" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Arg85Cys)" "" "" "0000847919" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "" "" "0000847920" "00006030" "30" "64" "0" "64" "0" "c.64C>G" "r.(?)" "p.(Leu22Val)" "" "" "0000847921" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847922" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847923" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847924" "00006030" "70" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400His)" "" "" "0000847925" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847926" "00006030" "70" "335" "0" "335" "0" "c.335T>G" "r.(?)" "p.(Leu112Ter)" "" "" "0000847927" "00006030" "70" "1226" "-6" "1235" "0" "c.1226-6_1235del" "r.(?)" "p.?" "" "" "0000847928" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847929" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847930" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847931" "00006030" "30" "64" "0" "64" "0" "c.64C>G" "r.(?)" "p.(Leu22Val)" "" "" "0000847932" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847933" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847934" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847935" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000847936" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847937" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847938" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847939" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.(?)" "p.?" "" "" "0000847940" "00006030" "70" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Arg85Cys)" "" "" "0000847941" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "" "" "0000847942" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847943" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847944" "00006030" "70" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400His)" "" "" "0000847945" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847949" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000847950" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847951" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847952" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847953" "00006030" "70" "518" "0" "518" "0" "c.518T>G" "r.(?)" "p.(Leu173Trp)" "" "" "0000847954" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847955" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847956" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847957" "00006030" "70" "761" "0" "761" "0" "c.761A>G" "r.(?)" "p.(His254Arg)" "" "" "0000847958" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847959" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847960" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847961" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847962" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847963" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847964" "00006030" "70" "215" "-2" "215" "-2" "c.215-2A>G" "r.spl" "p.?" "" "" "0000847965" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847966" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847967" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847968" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847969" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000847970" "00006030" "70" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "" "" "0000847971" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000847972" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000847973" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000847974" "00006030" "70" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400His)" "" "" "0000847975" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000847976" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000847977" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "" "" "0000847978" "00006030" "70" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320*)" "" "" "0000847979" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000847980" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000847993" "00006030" "70" "1399" "0" "1399" "0" "c.1399T>C" "r.(?)" "p.(Cys467Arg)" "" "" "0000847994" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000847995" "00006030" "30" "64" "0" "64" "0" "c.64C>G" "r.(?)" "p.(Leu22Val)" "" "" "0000847996" "00006030" "30" "775" "0" "775" "0" "c.775C>A" "r.(?)" "p.(Gln259Lys)" "" "" "0000847997" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "" "" "0000847998" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "" "" "0000847999" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "" "" "0000848000" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "" "" "0000848001" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000848002" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000848003" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000848004" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000848005" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "" "" "0000848006" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000848008" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000848009" "00006030" "70" "1027" "0" "1027" "0" "c.1027T>G" "r.(?)" "p.(Tyr343Asp)" "" "" "0000848010" "00006030" "70" "413" "2" "413" "2" "c.413+2T>G" "r.spl" "p.?" "" "" "0000848011" "00006030" "70" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Gln11Ter)" "" "" "0000848012" "00006030" "70" "791" "0" "791" "0" "c.791delT" "r.(?)" "p.(Phe264LeufsTer13)" "" "" "0000848013" "00006030" "70" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "" "" "0000848014" "00006030" "70" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Glu202Lys)" "" "" "0000848015" "00006030" "70" "604" "4" "604" "4" "c.604+4A>G" "r.(?)" "p.?" "" "" "0000848016" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000848017" "00006030" "70" "242" "0" "242" "0" "c.242C>G" "r.(?)" "p.(Thr81Arg)" "" "" "0000848018" "00006030" "70" "1249" "0" "1249" "0" "c.1249dup" "r.(?)" "p.(Thr417Asnfs*2)" "" "" "0000848019" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000848020" "00006030" "70" "1393" "0" "1393" "0" "c.1393A>G" "r.(?)" "p.(Arg465Gly)" "" "" "0000848021" "00006030" "70" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "" "" "0000848022" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000848023" "00006030" "70" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400Cys)" "" "" "0000848024" "00006030" "70" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400Cys)" "" "" "0000848025" "00006030" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "" "0000848026" "00006030" "70" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400Cys)" "" "" "0000848027" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810del17insGC" "r.(?)" "p.?" "" "" "0000848028" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.(?)" "p.?" "" "" "0000848029" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810del17insGC" "r.(?)" "p.?" "" "" "0000848030" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.(?)" "p.?" "" "" "0000848031" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810del17insGC" "r.(?)" "p.?" "" "" "0000848032" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.(?)" "p.?" "" "" "0000848033" "00006030" "70" "219" "0" "219" "0" "c.219T>A" "r.(?)" "p.(Phe73Leu)" "" "" "0000848034" "00006030" "70" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400His)" "" "" "0000848035" "00006030" "70" "1437" "0" "1437" "0" "c.1437delC" "r.(?)" "p.(Ile480PhefsTer6)" "" "" "0000848036" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810del17insGC" "r.spl" "p.?" "" "" "0000848039" "00006030" "70" "65" "0" "65" "0" "c.65T>A" "r.(?)" "p.(Leu22His)" "1" "" "0000848040" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "2" "" "0000848041" "00006030" "70" "77" "0" "77" "0" "c.77G>A" "r.(?)" "p.(Gly26Asp)" "1" "" "0000848042" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7" "" "0000848043" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7" "" "0000848044" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGT" "r.spl" "p.?" "7" "" "0000848045" "00006030" "70" "957" "0" "965" "0" "c.965_957delAAG" "r.(?)" "p.(Glu322del)" "7" "" "0000848046" "00006030" "70" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "9" "" "0000848047" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "8" "" "0000848048" "00006030" "70" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "9" "" "0000848049" "00006030" "70" "1062" "0" "1062" "0" "c.1062insA" "r.(?)" "p.(Val355Serfs*4)" "8" "" "0000848050" "00006030" "70" "215" "-2" "215" "-2" "c.215-2A>G" "r.spl" "p.?" "2" "" "0000848051" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "8" "" "0000848052" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGT" "r.spl" "p.?" "7" "" "0000848053" "00006030" "70" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "9" "" "0000848054" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "2" "" "0000848055" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7" "" "0000848056" "00006030" "70" "219" "0" "219" "0" "c.219T>A" "r.(?)" "p.(Phe73Leu)" "2" "" "0000848057" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7" "" "0000848058" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "9" "" "0000848059" "00006030" "70" "219" "0" "219" "0" "c.219T>A" "r.(?)" "p.(Phe73Leu)" "2" "" "0000848060" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7" "" "0000848061" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7" "" "0000848062" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "8" "" "0000848063" "00006030" "70" "1226" "-6" "1235" "0" "c.1226-6_1235del" "r.(?)" "p.?" "9" "" "0000848064" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7" "" "0000848065" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7" "" "0000848066" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "8" "" "0000848067" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "8" "" "0000848068" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7" "" "0000848069" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7" "" "0000848070" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7" "" "0000848071" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGT" "r.spl" "p.?" "7" "" "0000848072" "00006030" "70" "1062" "0" "1062" "0" "c.1062insA" "r.(?)" "p.(Val355Serfs*4)" "8" "" "0000848073" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGT" "r.spl" "p.?" "7" "" "0000848074" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "9" "" "0000848075" "00006030" "70" "518" "0" "518" "0" "c.518T>G" "r.(?)" "p.(Leu173Trp)" "4" "" "0000848076" "00006030" "70" "681" "0" "684" "0" "c.681_684del" "r.(?)" "p.(Ser227Argfs*2)" "4" "" "0000848077" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7" "" "0000848078" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "8" "" "0000848079" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGT" "r.spl" "p.?" "7" "" "0000848080" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "9" "" "0000848081" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7" "" "0000848082" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "8" "" "0000848083" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7" "" "0000848084" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7" "" "0000848085" "00006030" "70" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Asp332Asn)" "8" "" "0000848086" "00006030" "70" "219" "0" "219" "0" "c.219T>A" "r.(?)" "p.(Phe73Leu)" "2" "" "0000848087" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7" "" "0000848088" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7" "" "0000848089" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7" "" "0000848090" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "8" "" "0000848091" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGT" "r.spl" "p.?" "7" "" "0000848092" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "9" "" "0000848093" "00006030" "70" "77" "0" "77" "0" "c.77G>A" "r.(?)" "p.(Gly26Asp)" "1" "" "0000848094" "00006030" "70" "65" "0" "65" "0" "c.65T>A" "r.(?)" "p.(Leu22His)" "1" "" "0000848095" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "2" "" "0000848096" "00006030" "70" "957" "0" "965" "0" "c.965_957delAAG" "r.(?)" "p.(Glu322del)" "7" "" "0000848097" "00006030" "70" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "9" "" "0000848098" "00006030" "70" "215" "-2" "215" "-2" "c.215-2A>G" "r.spl" "p.?" "2" "" "0000848099" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "8" "" "0000848100" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "8" "" "0000848101" "00006030" "70" "1226" "-6" "1235" "0" "c.1226-6_1235del" "r.(?)" "p.?" "9" "" "0000848102" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGT" "r.spl" "p.?" "7" "" "0000848103" "00006030" "70" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "9" "" "0000848104" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGT" "r.spl" "p.?" "7" "" "0000848105" "00006030" "70" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "9" "" "0000848106" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7" "" "0000848107" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "8" "" "0000848108" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "8" "" "0000848109" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGT" "r.spl" "p.?" "7" "" "0000848110" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "9" "" "0000848111" "00006030" "70" "219" "0" "219" "0" "c.219T>A" "r.(?)" "p.(Phe73Leu)" "2" "" "0000848112" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "7" "" "0000848113" "00006030" "70" "362" "0" "362" "0" "c.362C>A" "r.(?)" "p.(Ser121Tyr)" "3" "" "0000848117" "00006030" "70" "71" "0" "71" "0" "c.71T>C" "r.(?)" "p.(Leu24Pro)" "" "" "0000848118" "00006030" "70" "134" "0" "134" "0" "c.134A>C" "r.(?)" "p.(Gln45Pro)" "" "" "0000848119" "00006030" "70" "134" "0" "134" "0" "c.134A>C" "r.(?)" "p.(Gln45Pro)" "" "" "0000848120" "00006030" "70" "810" "0" "810" "0" "c.810delT" "r.(?)" "p.(Glu271Asnfs*6)" "" "" "0000848121" "00006030" "70" "810" "0" "810" "0" "c.810delT" "r.(?)" "p.(Glu271Asnfs*6)" "" "" "0000848122" "00006030" "70" "810" "0" "810" "0" "c.810delT" "r.(?)" "p.(Glu271Asnfs*6)" "" "" "0000848123" "00006030" "70" "810" "0" "810" "0" "c.810delT" "r.(?)" "p.(Glu271Asnfs*6)" "" "" "0000848124" "00006030" "70" "928" "0" "928" "0" "c.928G>T" "r.(?)" "p.(Glu310*)" "" "" "0000848125" "00006030" "70" "1178" "0" "1178" "0" "c.1178C>T" "r.(?)" "p.(Pro393Leu)" "" "" "0000848126" "00006030" "70" "1219" "0" "1219" "0" "c.1219G>T" "r.(?)" "p.(Glu407*)" "" "" "0000848127" "00006030" "70" "1355" "0" "1355" "0" "c.1355G>A" "r.(?)" "p.(Arg452His)" "" "" "0000848128" "00006030" "70" "1225" "1" "1225" "1" "c.1225+1G>A" "r.(?)" "p.(Gly364_Val408del)" "" "" "0000848129" "00006030" "70" "1442" "0" "1442" "0" "c.1442delT" "r.(?)" "p.(Ser482Argfs*4)" "" "" "0000848130" "00006030" "70" "64" "0" "64" "0" "c.64C>G" "r.(?)" "p.(Leu22Val)" "" "" "0000848131" "00006030" "70" "64" "0" "64" "0" "c.64C>G" "r.(?)" "p.(Leu22Val)" "" "" "0000848132" "00006030" "70" "64" "0" "64" "0" "c.64C>G" "r.(?)" "p.(Leu22Val)" "" "" "0000848133" "00006030" "70" "197" "0" "197" "0" "c.197T>G" "r.(?)" "p.(Met66Arg)" "" "" "0000848134" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "" "" "0000848135" "00006030" "70" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "" "" "0000848136" "00006030" "70" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "" "" "0000848137" "00006030" "70" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "" "" "0000848138" "00006030" "70" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "" "" "0000848139" "00006030" "70" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "" "" "0000848140" "00006030" "70" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "" "" "0000848141" "00006030" "70" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "" "" "0000848142" "00006030" "70" "677" "0" "677" "0" "c.677T>A" "r.(?)" "p.(Met226Lys)" "" "" "0000848143" "00006030" "70" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232*)" "" "" "0000848144" "00006030" "70" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232*)" "" "" "0000848145" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.(Val268_Glu329del)" "" "" "0000848146" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.(Val268_Glu329del)" "" "" "0000848147" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.(Val268_Glu329del)" "" "" "0000848148" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.(Val268_Glu329del)" "" "" "0000848149" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.(Val268_Glu329del)" "" "" "0000848150" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.(Val268_Glu329del)" "" "" "0000848151" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.(Val268_Glu329del)" "" "" "0000848152" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.(Val268_Glu329del)" "" "" "0000848153" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.(Val268_Glu329del)" "" "" "0000848154" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.(Val268_Glu329del)" "" "" "0000848155" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.(Val268_Glu329del)" "" "" "0000848156" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.(Val268_Glu329del)" "" "" "0000848157" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.(Val268_Glu329del)" "" "" "0000848158" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000848159" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000848160" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000848161" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000848162" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000848163" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.(?)" "p.(Gly364_Val408del)" "" "" "0000848164" "00006030" "70" "1168" "0" "1168" "0" "c.1168C>T" "r.(?)" "p.(Arg390Cys)" "" "" "0000848165" "00006030" "70" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "" "" "0000848166" "00006030" "70" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400Cys)" "" "" "0000848167" "00006030" "70" "1328" "0" "1328" "0" "c.1328G>A" "r.(?)" "p.(Arg443Gln)" "" "" "0000848168" "00006030" "70" "1328" "0" "1328" "0" "c.1328G>A" "r.(?)" "p.(Arg443Gln)" "" "" "0000848169" "00006030" "70" "1328" "0" "1328" "0" "c.1328G>A" "r.(?)" "p.(Arg443Gln)" "" "" "0000848170" "00006030" "70" "1328" "0" "1328" "0" "c.1328G>A" "r.(?)" "p.(Arg443Gln)" "" "" "0000848171" "00006030" "70" "1393" "0" "1393" "0" "c.1393A>G" "r.(?)" "p.(Arg465Gly)" "" "" "0000848172" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.(?)" "p.(Gly364_Val408del)" "" "" "0000848173" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.(?)" "p.(Gly364_Val408del)" "" "" "0000848174" "00006030" "70" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232*)" "" "" "0000848175" "00006030" "70" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320*)" "" "" "0000848176" "00006030" "70" "130" "0" "130" "0" "c.130T>A" "r.(?)" "p.(Trp44Arg)" "" "" "0000848177" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.(Val268_Glu329del)" "" "" "0000848178" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.(Val268_Glu329del)" "" "" "0000848179" "00006030" "70" "1393" "0" "1393" "0" "c.1393A>G" "r.(?)" "p.(Arg465Gly)" "" "" "0000848180" "00006030" "70" "1027" "0" "1027" "0" "c.1027T>G" "r.(?)" "p.(Tyr343Asp)" "" "" "0000848181" "00006030" "70" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400His)" "" "" "0000848182" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000848183" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000848184" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.(?)" "p.(Gly364_Val408del)" "" "" "0000848185" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000848186" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000848187" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.(?)" "p.(Gly364_Val408del)" "" "" "0000848188" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000848189" "00006030" "70" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400His)" "" "" "0000848190" "00006030" "70" "1187" "0" "1187" "0" "c.1187C>T" "r.(?)" "p.(Pro396Leu)" "" "" "0000848191" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.(?)" "p.(Gly364_Val408del)" "" "" "0000848192" "00006030" "70" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.(?)" "p.(Gly364_Val408del)" "" "" "0000848193" "00006030" "70" "1372" "0" "1372" "0" "c.1372G>A" "r.(?)" "p.(Val458Met)" "" "" "0000848194" "00006030" "70" "1372" "0" "1372" "0" "c.1372G>A" "r.(?)" "p.(Val458Met)" "" "" "0000848195" "00006030" "70" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400Cys)" "" "" "0000850583" "00006030" "50" "1084" "0" "1084" "0" "c.1084G>T" "r.(?)" "p.(Val362Leu)" "" "" "0000859381" "00006030" "30" "327" "20" "327" "20" "c.327+20A>T" "r.(=)" "p.(=)" "" "" "0000859382" "00006030" "30" "1344" "0" "1344" "0" "c.1344T>C" "r.(?)" "p.(Asn448=)" "" "" "0000867618" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "" "" "0000867619" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "" "" "0000867622" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "" "" "0000867626" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "" "" "0000867627" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "" "" "0000867634" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "" "" "0000867635" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "" "" "0000867636" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "" "" "0000867637" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.?" "" "" "0000867643" "00006030" "70" "1226" "-6" "1235" "0" "c.1226-6_1235del" "r.(?)" "p.?" "" "" "0000867644" "00006030" "70" "1226" "-6" "1235" "0" "c.1226-6_1235del" "r.(?)" "p.?" "" "" "0000867647" "00006030" "70" "327" "1" "327" "1" "c.327+1G>A" "r.spl" "p.?" "" "" "0000867651" "00006030" "70" "518" "0" "518" "0" "c.518T>G" "r.(?)" "p.(Leu173Trp)" "" "" "0000867652" "00006030" "70" "710" "0" "710" "0" "c.710C>A" "r.(?)" "p.(Pro237His)" "" "" "0000867659" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.(Val268_Glu329del)" "7" "" "0000867660" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000867670" "00006030" "70" "1219" "0" "1219" "0" "c.1219G>T" "r.(?)" "p.(Glu407*)" "9" "" "0000867671" "00006030" "70" "1219" "0" "1219" "0" "c.1219G>T" "r.(?)" "p.(Glu407*)" "9" "" "0000867672" "00006030" "70" "1219" "0" "1219" "0" "c.1219G>T" "r.(?)" "p.(Glu407*)" "9" "" "0000867673" "00006030" "70" "1219" "0" "1219" "0" "c.1219G>T" "r.(?)" "p.(Glu407*)" "9" "" "0000867675" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000867676" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000867677" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000867678" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000867679" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000867680" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000867681" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000867682" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000867683" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000867684" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000867685" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000867686" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000867687" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000867688" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000867689" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000867690" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000867691" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000867692" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000867693" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000867694" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000867695" "00006030" "70" "1378" "0" "1378" "0" "c.1378T>C" "r.(?)" "p.(Phe460Leu)" "" "" "0000867696" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.(?)" "p.?" "" "" "0000867697" "00006030" "70" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400His)" "" "" "0000867698" "00006030" "70" "1226" "-6" "1235" "0" "c.1226-6_1235del" "r.(?)" "p.?" "" "" "0000867699" "00006030" "70" "1378" "0" "1378" "0" "c.1378T>C" "r.(?)" "p.(Phe460Leu)" "" "" "0000867700" "00006030" "70" "327" "1" "327" "1" "c.327+1G>A" "r.(?)" "p.?" "" "" "0000867701" "00006030" "70" "327" "1" "327" "1" "c.327+1G>A" "r.(?)" "p.?" "" "" "0000867702" "00006030" "70" "518" "0" "518" "0" "c.518T>G" "r.(?)" "p.(Leu173Trp)" "" "" "0000867703" "00006030" "70" "518" "0" "518" "0" "c.518T>G" "r.(?)" "p.(Leu173Trp)" "" "" "0000867704" "00006030" "70" "710" "0" "710" "0" "c.710C>A" "r.(?)" "p.(Pro237His)" "" "" "0000867705" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000867706" "00006030" "70" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "" "" "0000867707" "00006030" "70" "1393" "0" "1393" "0" "c.1393A>G" "r.(?)" "p.(Arg465Gly)" "" "" "0000867708" "00006030" "70" "732" "0" "732" "0" "c.732del" "r.(?)" "p.(Trp244CysfsTer33)" "" "" "0000867709" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "" "" "0000867710" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "" "" "0000867711" "00006030" "70" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Ala204Thr)" "" "" "0000867712" "00006030" "70" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Trp)" "" "" "0000867714" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867715" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867716" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867717" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867718" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867719" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867720" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867721" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867722" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867723" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867724" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867725" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867726" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867727" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867728" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867729" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867730" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867731" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867732" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867733" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867734" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867735" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867736" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867737" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867738" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867739" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867740" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867741" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867742" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867743" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867744" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867745" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867746" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867747" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867748" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867749" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867750" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867751" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867752" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867753" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867754" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867755" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867756" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867757" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867758" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867759" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867760" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867761" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867762" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867763" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867764" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867765" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867766" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867767" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867768" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867769" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867770" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867771" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867772" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867773" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867774" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867775" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867776" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867777" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867778" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867779" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867780" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867781" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867782" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867783" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867784" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867785" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867786" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867787" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867788" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867789" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867790" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867791" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867792" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867793" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867794" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867795" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867796" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867797" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867798" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867799" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867800" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867801" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867802" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867803" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867804" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867805" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867806" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867807" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867808" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867809" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867810" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867811" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867812" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867813" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867814" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867815" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867816" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867817" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810 delinsGC" "r.spl" "p.(?)" "" "" "0000867818" "00006030" "70" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.(?)" "" "" "0000867819" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000867820" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000867821" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000867822" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000867823" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000867824" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000867825" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000867826" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000867827" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000867828" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000867829" "00006030" "70" "219" "0" "219" "0" "c.219T>A" "r.(?)" "p.(Phe73Leu)" "" "" "0000867830" "00006030" "70" "219" "0" "219" "0" "c.219T>A" "r.(?)" "p.(Phe73Leu)" "" "" "0000867831" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "" "" "0000867832" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "" "" "0000867833" "00006030" "90" "335" "0" "335" "0" "c.335T>G" "r.(?)" "p.(Leu112Ter)" "" "" "0000867834" "00006030" "90" "335" "0" "335" "0" "c.335T>G" "r.(?)" "p.(Leu112Ter)" "" "" "0000867835" "00006030" "90" "732" "0" "732" "0" "c.732G>A" "r.(?)" "p.(Trp244Ter)" "" "" "0000867836" "00006030" "90" "732" "0" "732" "0" "c.732G>A" "r.(?)" "p.(Trp244Ter)" "" "" "0000867837" "00006030" "70" "1508" "0" "1508" "0" "c.1508G>A" "r.(?)" "p.(Gly503Glu)" "" "" "0000867838" "00006030" "90" "215" "-1" "215" "-1" "c.215-1G>A" "r.spl" "p.?" "" "" "0000867839" "00006030" "90" "1072" "0" "1072" "0" "c.1072G>T" "r.(?)" "p.(Glu358Ter)" "" "" "0000867840" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000867841" "00006030" "70" "65" "0" "65" "0" "c.65T>A" "r.(?)" "p.(Leu22His)" "" "" "0000867842" "00006030" "70" "219" "0" "219" "0" "c.219T>A" "r.(?)" "p.(Phe73Leu)" "" "" "0000867843" "00006030" "70" "219" "0" "219" "0" "c.219T>A" "r.(?)" "p.(Phe73Leu)" "" "" "0000867844" "00006030" "70" "219" "0" "219" "0" "c.219T>A" "r.(?)" "p.(Phe73Leu)" "" "" "0000867845" "00006030" "70" "219" "0" "219" "0" "c.219T>A" "r.(?)" "p.(Phe73Leu)" "" "" "0000867846" "00006030" "50" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Arg85His)" "" "" "0000867847" "00006030" "70" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Arg85Cys)" "" "" "0000867848" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "" "" "0000867849" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "" "" "0000867850" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "" "" "0000867851" "00006030" "90" "335" "0" "335" "0" "c.335T>G" "r.(?)" "p.(Leu112Ter)" "" "" "0000867852" "00006030" "50" "368" "0" "368" "0" "c.368T>G" "r.(?)" "p.(Met123Arg)" "" "" "0000867853" "00006030" "90" "732" "0" "732" "0" "c.732G>A" "r.(?)" "p.(Trp244Ter)" "" "" "0000867854" "00006030" "90" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Ter)" "" "" "0000867855" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000867856" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000867857" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000867858" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000867859" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000867860" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000867861" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000867862" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000867863" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000867864" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000867865" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000867866" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000867867" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000867868" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000867869" "00006030" "70" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Asp332Asn)" "" "" "0000867870" "00006030" "90" "1020" "0" "1020" "0" "c.1020G>A" "r.(?)" "p.(Trp340Ter)" "" "" "0000867871" "00006030" "90" "1062" "0" "1062" "0" "c.1062dupA" "r.(?)" "p.(Val355SerfsTer4)" "" "" "0000867872" "00006030" "90" "1062" "0" "1062" "0" "c.1062dupA" "r.(?)" "p.(Val355SerfsTer4)" "" "" "0000867873" "00006030" "70" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "" "" "0000867874" "00006030" "70" "1168" "0" "1168" "0" "c.1168C>T" "r.(?)" "p.(Arg390Cys)" "" "" "0000867875" "00006030" "70" "1168" "0" "1168" "0" "c.1168C>T" "r.(?)" "p.(Arg390Cys)" "" "" "0000867876" "00006030" "70" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400Cys)" "" "" "0000867877" "00006030" "70" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400Cys)" "" "" "0000867878" "00006030" "70" "1216" "0" "1216" "0" "c.1216T>C" "r.(?)" "p.(Cys406Arg)" "" "" "0000867879" "00006030" "70" "1278" "0" "1278" "0" "c.1278G>T" "r.(?)" "p.(Leu426Phe)" "" "" "0000867880" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000867881" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000867882" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000867883" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000867884" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000867885" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000867886" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000867887" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000867888" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000867889" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000867890" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000867891" "00006030" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "" "0000867892" "00006030" "70" "219" "0" "219" "0" "c.219T>A" "r.(?)" "p.(Phe73Leu)" "" "" "0000867893" "00006030" "70" "219" "0" "219" "0" "c.219T>A" "r.(?)" "p.(Phe73Leu)" "" "" "0000867894" "00006030" "90" "1020" "0" "1020" "0" "c.1020G>A" "r.(?)" "p.(Trp340Ter)" "" "" "0000867895" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000867896" "00006030" "90" "1062" "0" "1062" "0" "c.1062dupA" "r.(?)" "p.(Val355SerfsTer4)" "" "" "0000867897" "00006030" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "" "" "0000867898" "00006030" "70" "801" "5" "801" "5" "c.801+5G>A" "r.spl" "p.?" "" "" "0000867899" "00006030" "70" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400Cys)" "" "" "0000867900" "00006030" "70" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Arg85Cys)" "" "" "0000867901" "00006030" "90" "1020" "0" "1020" "0" "c.1020G>A" "r.(?)" "p.(Trp340Ter)" "" "" "0000867902" "00006030" "90" "1226" "-6" "1235" "0" "c.1226-6_1235del+AX34" "r.spl" "p.?" "" "" "0000867903" "00006030" "90" "328" "-1" "328" "-1" "c.328-1G>A" "r.spl" "p.?" "" "" "0000867904" "00006030" "70" "1400" "0" "1400" "0" "c.1400G>A" "r.(?)" "p.(Cys467Tyr)" "" "" "0000867905" "00006030" "90" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Ter)" "" "" "0000867906" "00006030" "90" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Ter)" "" "" "0000867907" "00006030" "70" "1168" "0" "1168" "0" "c.1168C>T" "r.(?)" "p.(Arg390Cys)" "" "" "0000867908" "00006030" "70" "802" "-9" "802" "-9" "c.802-9A>G" "r.spl" "p.?" "" "" "0000873503" "00006030" "70" "802" "-6" "810" "0" "c.802-6_810del" "r.(?)" "p.(?)" "" "" "0000886225" "00006030" "70" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "" "" "0000886226" "00006030" "70" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400His)" "" "" "0000886227" "00006030" "70" "1393" "0" "1393" "0" "c.1393A>G" "r.(?)" "p.(Arg465Gly)" "" "" "0000896462" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.(Val268_Glu329del)" "" "" "0000896463" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000896477" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.(Val268_Glu329del)" "" "" "0000896500" "00006030" "70" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400His)" "" "" "0000896501" "00006030" "70" "1507" "0" "1507" "0" "c.1507G>C" "r.(?)" "p.(Gly503Arg)" "" "" "0000896527" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsG" "r.spl" "p.?" "" "" "0000896547" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.(Val268_Glu329del)" "" "" "0000896548" "00006030" "70" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400His)" "" "" "0000896570" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000896594" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.(Val268_Glu329del)" "" "" "0000896595" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000896622" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsG" "r.spl" "p.?" "" "" "0000896623" "00006030" "70" "992" "0" "992" "0" "c.992A>C" "r.(?)" "p.(His331Pro)" "" "" "0000896652" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.(Val268_Glu329del)" "" "" "0000896653" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000896666" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.(Val268_Glu329del)" "" "" "0000896667" "00006030" "90" "1091" "-2" "1091" "-2" "c.1091-2A>G" "r.spl" "p.?" "" "" "0000896734" "00006030" "90" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232Ter)" "" "" "0000896735" "00006030" "90" "802" "-8" "810" "0" "c.802-8_810delinsGC" "r.spl" "p.(Val268_Glu329del)" "" "" "0000896742" "00006030" "70" "237" "0" "237" "0" "c.237G>T" "r.(?)" "p.(Glu79Asp)" "" "" "0000896743" "00006030" "70" "367" "0" "367" "0" "c.367A>G" "r.(?)" "p.(Met123Val)" "" "" "0000912096" "00006030" "70" "1027" "0" "1027" "0" "c.1027T>G" "r.(?)" "p.(Tyr343Asp)" "" "" "0000948310" "00006030" "50" "1285" "0" "1285" "0" "c.1285G>T" "r.(?)" "p.(Asp429Tyr)" "" "" "0000948311" "00006030" "30" "1479" "0" "1479" "0" "c.1479C>T" "r.(?)" "p.(=)" "" "" "0000958262" "00006030" "90" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400His)" "" "" "0000959170" "00006030" "50" "1201" "0" "1201" "0" "c.1201A>G" "r.(?)" "p.(Ser401Gly)" "" "" "0000963097" "00006030" "90" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "" "" "0001034475" "00006030" "50" "44" "0" "44" "0" "c.44T>C" "r.(?)" "p.(Leu15Pro)" "" "" "0001034476" "00006030" "50" "1346" "0" "1346" "0" "c.1346C>T" "r.(?)" "p.(Ala449Val)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1010 "{{screeningid}}" "{{variantid}}" "0000000041" "0000000101" "0000000101" "0000000101" "0000001619" "0000019529" "0000001619" "0000019530" "0000001620" "0000019531" "0000001620" "0000019532" "0000001621" "0000019533" "0000001621" "0000019534" "0000001625" "0000019539" "0000001625" "0000019540" "0000081248" "0000130339" "0000081249" "0000130340" "0000081250" "0000130342" "0000081251" "0000130343" "0000081251" "0000130428" "0000081253" "0000130345" "0000081253" "0000130429" "0000081255" "0000130347" "0000081255" "0000130430" "0000081257" "0000130349" "0000081257" "0000130431" "0000081259" "0000130351" "0000081259" "0000130432" "0000081261" "0000130355" "0000081262" "0000130356" "0000081263" "0000130357" "0000081263" "0000130433" "0000081265" "0000130359" "0000081266" "0000130360" "0000081266" "0000130434" "0000081268" "0000130362" "0000081269" "0000130363" "0000081270" "0000130365" 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