### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GPR98) # 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}}" "GPR98" "G protein-coupled receptor 98" "5" "q13" "unknown" "NC_000005.9" "UD_132118454894" "{PMID:Bonnet 2016:27460420}" "https://www.LOVD.nl/GRP98" "USMA (Usher Syndrome Missense Analysis) \r\nDeafness Variation Database \r\nMoBiDiC " "1" "17416" "84059" "602851" "1" "1" "1" "1" "NOTE: gene symbol was recently changed from GPR98 to ADGRV1.
The database is curated by the Montpellier Usher group.
You can directly access the GPR98 database using: www.LOVD.nl/GPR98
If you wish to perform particular analyses, please do not hesitate to contact us. We hope that you will find these databases useful!
This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/GPR98_codingDNA.html" "1" "" "
\r\nThis database is one of the ”Retinal and hearing impairment genetic variant databases”.\r\nNOTE: gene symbol was recently changed from GPR98 to ADGRV1." "-1" "" "-1" "00002" "2010-03-02 00:00:00" "00110" "2018-07-20 14:40:38" "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}}" "00000149" "GPR98" "G protein-coupled receptor 98, transcript variant 1" "001" "NM_032119.3" "" "NP_115495.3" "" "" "" "-96" "19237" "18921" "89854617" "90460033" "00002" "2012-05-11 13:12:15" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 25 "{{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" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00343" "EPD" "epilepsy, pyridoxine-dependent (EPD)" "AR" "266100" "" "" "" "00006" "2014-03-12 21:19:49" "00006" "2021-12-10 21:51:32" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00531" "DFNB;ARNSHL" "deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))" "" "" "" "" "" "00006" "2014-09-21 11:25:16" "00006" "2015-12-08 23:59:30" "00669" "USH2C" "Usher syndrome,, type IIC (USH2C, GPR98/PDZD7 digenic)" "AR;DD" "605472" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02115" "USH1" "Usher syndrome, type I (USH-1)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-11 13:56:28" "02116" "USH2A" "Usher syndrome,, type 2A (USH2A)" "AR" "276901" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02499" "FEB4" "Febrile seizures, familial, 4" "AD" "604352" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04211" "RPar" "retinitis pigmentosa, autosomal recessive (RPar)" "" "" "" "" "" "00006" "2015-02-27 18:58:57" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05302" "MPS1" "mucopolysaccharidosis, type I (MPS-1)" "" "" "" "" "" "00006" "2017-07-11 15:47:57" "00006" "2021-12-11 13:56:28" "05414" "USH2" "Usher syndrome, type II (USH-2)" "" "" "" "" "" "00006" "2018-04-02 14:40:34" "00006" "2021-12-11 13:56:28" "05415" "USH" "Usher syndrome (USH)" "" "" "" "" "" "00006" "2018-04-02 16:40:44" "" "" "05458" "DFN" "deafness, nonsyndromic (DFN)" "" "" "" "" "" "00006" "2018-07-12 10:48:26" "" "" "05459" "USH3" "Usher syndrome, type III (USH-3)" "" "" "" "" "" "00006" "2018-07-12 10:56:37" "00006" "2021-12-11 13:56:28" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05536" "albinism" "albinism" "" "" "" "" "" "00006" "2018-12-22 14:34:16" "00006" "2022-01-24 17:04:35" "05688" "ODCD" "odontochondrodysplasia (ODCD, osteochondrodysplasia)" "AR" "184260" "" "" "" "00006" "2020-01-31 09:10:03" "00006" "2021-01-13 11:07:22" "05981" "USH1" "Usher syndrome, type I" "" "276903" "" "" "" "00110" "2021-10-25 15:10:06" "00006" "2021-12-11 13:56:28" "05992" "CHAPLE" "Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy" "AR" "226300" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "GPR98" "00669" "GPR98" "02499" "GPR98" "05414" "GPR98" "05415" ## Individuals ## Do not remove or alter this header ## ## Count = 433 "{{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}}" "00000079" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00001825" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00003008" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "" "" "" "" "" "00016319" "" "" "" "1" "" "00681" "" "" "M" "?" "Italy" "" "0" "" "" "" "" "00016322" "" "" "" "1" "" "00681" "" "" "M" "no" "Italy" "" "0" "" "" "" "" "00016327" "" "" "" "1" "" "00681" "" "" "M" "yes" "" "" "0" "" "" "" "" "00059146" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059147" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059148" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00143915" "" "" "" "1" "" "01780" "{PMID:Katagiri 2014:25268133}" "index patient" "F" "no" "Japan" "" "0" "" "" "Japanese" "" "00155376" "" "" "" "2" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Russia;Jewish" "" "00166402" "" "" "" "1" "" "00110" "{PMID:Weston 2004:14740321}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166403" "" "" "" "1" "" "00110" "{PMID:Weston 2004:14740321}" "Relative" "F" "" "" "" "0" "" "" "" "" "00166404" "" "" "" "1" "" "00110" "{PMID:Weston 2004:14740321}" "Relative" "F" "" "" "" "0" "" "" "" "" "00166405" "" "" "" "1" "" "00110" "{PMID:Weston 2004:14740321}" "Relative" "F" "" "" "" "0" "" "" "" "" "00166406" "" "" "" "1" "" "00110" "{PMID:Weston 2004:14740321}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166407" "" "" "" "1" "" "00110" "{PMID:Weston 2004:14740321}" "Relative" "F" "" "" "" "0" "" "" "" "" "00166408" "" "" "" "1" "" "00110" "{PMID:Weston 2004:14740321}" "Relative" "F" "" "" "" "0" "" "" "" "" "00166409" "" "" "" "1" "" "00110" "{PMID:Weston 2004:14740321}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166410" "" "" "" "1" "" "00110" "{PMID:Weston 2004:14740321}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166411" "" "" "" "1" "" "00110" "{PMID:Weston 2004:14740321}" "Relative" "F" "" "" "" "0" "" "" "" "" "00166412" "" "" "" "1" "" "00110" "{PMID:Weston 2004:14740321}" "Relative" "F" "" "" "" "0" "" "" "" "" "00166413" "" "" "" "1" "" "00110" "{PMID:Weston 2004:14740321}" "Relative" "F" "" "" "" "0" "" "" "" "" "00166414" "" "" "" "1" "" "00110" "{PMID:Weston 2004:14740321}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166415" "" "" "" "1" "" "00110" "{PMID:Hilgert 2009:19357116}" "Proband" "M" "" "Iran" "" "0" "" "" "" "" "00166416" "" "" "" "1" "" "00110" "{PMID:Hilgert 2009:19357116}" "Relative" "M" "" "Iran" "" "0" "" "" "" "" "00166417" "" "" "" "1" "" "00110" "{PMID:Hilgert 2009:19357116}" "Relative" "F" "" "Iran" "" "0" "" "" "" "" "00166418" "" "" "" "1" "" "00110" "{PMID:Hilgert 2009:19357116}" "Relative" "F" "" "Iran" "" "0" "" "" "" "" "00166419" "" "" "" "1" "" "00110" "{PMID:Hilgert 2009:19357116}" "Relative" "F" "" "Iran" "" "0" "" "" "" "" "00166420" "" "" "" "1" "" "00110" "{PMID:Ebermann 2009:19357117}" "Proband" "M" "" "Canada" "" "0" "" "" "" "" "00166421" "" "" "" "1" "" "00110" "{PMID:Ebermann 2009:19357117}" "Proband" "F" "" "Germany" "" "0" "" "" "" "" "00166422" "" "" "" "1" "" "00110" "{PMID:Ebermann 2009:19357117}" "Relative" "M" "" "Germany" "" "0" "" "" "" "" "00166423" "" "" "" "1" "" "00110" "{PMID:Hmani-Aifa 2009:18854872}" "Proband - severe RP - the patient also carries the c.2419T>A variant (homozygous) in the PDE6B gene." "F" "" "Tunisia" "" "0" "" "" "" "" "00166424" "" "" "" "1" "" "00110" "{PMID:Hmani-Aifa 2009:18854872}" "Relative - No mutation in PDE6B. Typical USH2 RP." "M" "" "Tunisia" "" "0" "" "" "" "" "00166425" "" "" "" "1" "" "00110" "{PMID:Hmani-Aifa 2009:18854872}" "Relative - the patient also carries the c.2419T>A (homozygous) variant in the PDE6B gene." "M" "" "Tunisia" "" "0" "" "" "" "" "00166426" "" "" "" "1" "" "00110" "{PMID:Nakayama 2002:12402266}" "Proband - The patient suffer from febrile seizure." "F" "" "Japan" "" "0" "" "" "" "" "00166468" "" "" "" "1" "" "02416" "{PMID:Ebermann 2010:20440071}" "Proband - carries c.2194_2203del - p.Cys732Leufs* in PDZD7 - heterozygous, 0/405 controls" "M" "" "Germany" "" "0" "" "" "" "" "00166495" "" "" "" "1" "" "02416" "{PMID:Malm 2010:21174530}" "Proband" "" "" "Sweden" "" "0" "" "" "" "" "00166496" "" "" "" "1" "" "02416" "{PMID:Malm 2010:21174530}" "Relative" "" "" "Sweden" "" "0" "" "" "" "" "00166497" "" "" "" "1" "" "02416" "{PMID:Malm 2010:21174530}" "Relative" "" "" "Sweden" "" "0" "" "" "" "" "00166519" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166520" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166528" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "" "00166529" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166530" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "" "00166531" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "" "00166533" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "" "00166534" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "" "00166590" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166591" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166592" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166593" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166596" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166598" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166601" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166602" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166604" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166605" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166606" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166607" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166608" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166610" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166611" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166612" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166616" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166618" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166621" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166624" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166625" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166627" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166628" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166630" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166633" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166636" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166637" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166638" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166639" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166640" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166641" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166643" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166644" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166645" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166647" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166651" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166652" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166654" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166657" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166659" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166660" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166662" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166663" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166664" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166665" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166666" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166667" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166669" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166670" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166671" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166672" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166673" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166680" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166681" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166682" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166683" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166686" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166687" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166690" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166693" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166694" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166695" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166699" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166700" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166702" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166707" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166708" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166713" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166714" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166715" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166716" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166718" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166719" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166721" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166722" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166723" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166725" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166726" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166727" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166728" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166729" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166731" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166732" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166736" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166737" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166738" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166741" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166742" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166743" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166746" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166748" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166749" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166750" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166751" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166753" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166755" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166756" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166757" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166759" "" "" "" "1" "" "02416" "{PMID:Besnard 2012:22147658}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00166760" "" "" "" "1" "" "02416" "{PMID:Besnard 2012:22147658}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00166761" "" "" "" "1" "" "02416" "{PMID:Besnard 2012:22147658}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00166762" "" "" "" "1" "" "02416" "{PMID:Besnard 2012:22147658}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00166763" "" "" "" "1" "" "02416" "{PMID:Besnard 2012:22147658}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00166764" "" "" "" "1" "" "02416" "{PMID:Besnard 2012:22147658}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166765" "" "" "" "1" "" "02416" "{PMID:Besnard 2012:22147658}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166766" "" "" "" "1" "" "02416" "{PMID:Besnard 2012:22147658}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166767" "" "" "" "1" "" "02416" "{PMID:Besnard 2012:22147658}" "Proband" "F" "" "Turkey" "" "0" "" "" "" "" "00166768" "" "" "" "1" "" "02416" "{PMID:Besnard 2012:22147658}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00166893" "" "" "" "1" "" "02416" "{PMID:Neveling 2012:22334370}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166895" "" "" "" "1" "" "02416" "{PMID:Neveling 2012:22334370}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166897" "" "" "" "1" "" "02416" "{PMID:Neveling 2012:22334370}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166901" "" "" "" "1" "" "02416" "{PMID:Neveling 2012:22334370}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166903" "" "" "" "1" "" "02416" "{PMID:Neveling 2012:22334370}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166905" "" "" "" "1" "" "02416" "{PMID:Neveling 2012:22334370}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166908" "" "" "" "1" "" "02416" "{PMID:Neveling 2012:22334370}" "Proband" "F" "" "" "" "0" "" "" "" "" "00167113" "" "" "" "1" "" "02416" "{PMID:Garcia-Garcia 2013:23441107}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00167114" "" "" "" "1" "" "02416" "{PMID:Garcia-Garcia 2013:23441107}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00167115" "" "" "" "1" "" "02416" "{PMID:Garcia-Garcia 2013:23441107}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00167116" "" "" "" "1" "" "02416" "{PMID:Garcia-Garcia 2013:23441107}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00167117" "" "" "" "1" "" "02416" "{PMID:Garcia-Garcia 2013:23441107}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00167118" "" "" "" "1" "" "02416" "{PMID:Garcia-Garcia 2013:23441107}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00167119" "" "" "" "1" "" "02416" "{PMID:Garcia-Garcia 2013:23441107}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00167121" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167122" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "F" "" "Spain" "" "0" "" "" "" "" "00167130" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167131" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "F" "" "Algeria" "" "0" "" "" "" "" "00167135" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167136" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167137" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "M" "" "France" "" "0" "" "" "" "" "00167140" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "F" "" "" "" "0" "" "" "" "" "00167150" "" "" "" "1" "" "02416" "{PMID:Glöcke 2013:23591405}" "Proband" "" "" "" "" "0" "" "" "" "" "00167153" "" "" "" "1" "" "02416" "{PMID:Glöcke 2013:23591405}" "Proband" "" "" "" "" "0" "" "" "" "" "00167157" "" "" "" "1" "" "02416" "{PMID:Yang 2013:23767834}" "Proband - no ophtalmologic details" "" "" "China" "" "0" "" "" "" "" "00167158" "" "" "" "1" "" "02416" "{PMID:Yang 2013:23767834}" "Proband - no ophtalmologic details" "" "" "China" "" "0" "" "" "" "" "00167159" "" "" "" "1" "" "02416" "{PMID:Yang 2013:23767834}" "Proband - no ophtalmological details" "" "" "China" "" "0" "" "" "" "" "00167237" "" "" "" "1" "" "00143" "{PMID:Krawitz 2014:25333064}" "Proband" "M" "" "Germany" "" "0" "" "" "" "" "00167239" "" "" "" "1" "" "00143" "{PMID:Krawitz 2014:25333064}" "Proband" "F" "" "Germany" "" "0" "" "" "" "" "00167441" "" "" "" "1" "" "02416" "{PMID:Rong 2014:24831256}" "Proband - variants found in samples of two affected brothers. They carry the same causative mutations in MYO7A, but other variants cannot be discriminated from the publication." "M" "" "China" "" "0" "" "" "" "" "00167442" "" "" "" "1" "" "02416" "{PMID:Rong 2014:24831256}" "Proband" "F" "" "China" "" "0" "" "" "" "" "00167443" "" "" "" "1" "" "02416" "{PMID:Rong 2014:24831256}" "Proband" "M" "" "China" "" "0" "" "" "" "" "00167444" "" "" "" "1" "" "02416" "{PMID:Chen 2014:23462753}" "Proband" "F" "" "China" "" "0" "" "" "" "" "00167449" "" "" "" "1" "" "00764" "{PMID:Reddy 2014:25211151}" "Proband" "F" "" "Lebanon" "" "0" "" "" "" "" "00167450" "" "" "" "1" "" "00764" "{PMID:Reddy 2014:25211151}" "Proband" "M" "" "Lebanon" "" "0" "" "" "" "" "00167628" "" "" "" "1" "" "00764" "{PMID:Reddy 2014:25211151}" "Relative" "F" "" "Lebanon" "" "0" "" "" "" "" "00167629" "" "" "" "1" "" "00764" "{PMID:Reddy 2014:25211151}" "Relative" "M" "" "Lebanon" "" "0" "" "" "" "" "00167630" "" "" "" "1" "" "00764" "{PMID:Reddy 2014:25211151}" "Relative" "M" "" "Lebanon" "" "0" "" "" "" "" "00167631" "" "" "" "1" "" "00764" "{PMID:Reddy 2014:25211151}" "Relative" "M" "" "Lebanon" "" "0" "" "" "" "" "00167632" "" "" "" "1" "" "00764" "{PMID:Reddy 2014:25211151}" "Relative" "M" "" "" "" "0" "" "" "" "" "00167633" "" "" "" "1" "" "00764" "{PMID:Reddy 2014:25211151}" "Relative" "F" "" "Lebanon" "" "0" "" "" "" "" "00167634" "" "" "" "1" "" "00764" "{PMID:Reddy 2014:25211151}" "Relative" "M" "" "Lebanon" "" "0" "" "" "" "" "00167635" "" "" "" "1" "" "00764" "{PMID:Reddy 2014:25211151}" "Relative" "M" "" "Lebanon" "" "0" "" "" "" "" "00167653" "" "" "" "1" "" "02416" "{PMID:Aparisi 2014:25404053}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00167654" "" "" "" "1" "" "02416" "{PMID:Aparisi 2014:25404053}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00167656" "" "" "" "1" "" "02416" "{PMID:Aparisi 2014:25404053}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00167657" "" "" "" "1" "" "02416" "{PMID:Aparisi 2014:25404053}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00167659" "" "" "" "1" "" "02416" "{PMID:Aparisi 2014:25404053}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00167660" "" "" "" "1" "" "02416" "{PMID:Kahrizi 2015:25572244}" "Proband" "F" "" "Iran" "" "0" "" "" "" "" "00167661" "" "" "" "1" "" "02416" "{PMID:Kahrizi 2015:25572244}" "Relative" "F" "" "Iran" "" "0" "" "" "" "" "00167663" "" "" "" "1" "" "02416" "{PMID:Licastro 2012:22952768}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00167665" "" "" "" "1" "" "02416" "{PMID:Licastro 2012:22952768}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00167680" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167695" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167765" "" "" "" "1" "" "02416" "{PMID:Jiang 2015:26338283}" "Proband" "F" "" "China" "" "0" "" "" "" "" "00167766" "" "" "" "1" "" "02416" "{PMID:Jiang 2015:26338283}" "Proband" "M" "" "China" "" "0" "" "" "" "" "00167767" "" "" "" "1" "" "02416" "{PMID:Jiang 2015:26338283}" "Proband" "M" "" "China" "" "0" "" "" "" "" "00167770" "" "" "" "1" "" "02416" "{PMID:Yang 2015:26432996}" "Proband" "M" "" "China" "" "0" "" "" "" "" "00167774" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167829" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Germany" "" "0" "" "" "" "" "00167830" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Germany" "" "0" "" "" "" "" "00167831" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Germany" "" "0" "" "" "" "" "00167832" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Germany" "" "0" "" "" "" "" "00167833" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Germany" "" "0" "" "" "" "" "00167834" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Germany" "" "0" "" "" "" "" "00167835" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Germany" "" "0" "" "" "" "" "00167836" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167837" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167838" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167839" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167840" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167841" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167842" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167843" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167844" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167845" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167846" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167847" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167848" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167849" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Italy" "" "0" "" "" "" "" "00167850" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00168024" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "Proband" "M" "" "France" "" "0" "" "" "" "S1338" "00168025" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "Proband" "F" "" "France" "" "0" "" "" "" "S1601" "00235340" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00276341" "" "" "" "1" "" "00006" "{PMID:Gariballa 2017:28322503}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "United Arab Emirates" "" "0" "" "" "" "" "00293923" "" "" "" "37" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293924" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293925" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293926" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293927" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293928" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293929" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293930" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293931" "" "" "" "54" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293932" "" "" "" "37" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293933" "" "" "" "25" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293934" "" "" "" "71" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293935" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293936" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293937" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293938" "" "" "" "190" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295209" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299640" "" "" "" "1" "" "00006" "{PMID:Arno 2017:28132693}" "3-generation family, 1 affeted, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "FamGC18203Pat1" "00305045" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305046" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308469" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308470" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308784" "" "" "" "4" "" "00004" "{PMID:Santana 2019:31231422}" "3-generation family, 4 affected (F, 3M), unaffected parents" "" "" "Cuba" "" "0" "" "" "white" "FamUS-2" "00308931" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00308932" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00308933" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00308934" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00308935" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00308936" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309555" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP580M" "00309558" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP956" "00309561" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP1350" "00309562" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP1353" "00309567" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP1564" "00309571" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP1686" "00309594" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP2011" "00309606" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP1936" "00309609" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP1488" "00325507" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "family" "" "" "Mexico" "" "0" "" "" "" "3853" "00327942" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "B240074" "00328003" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G001038" "00328034" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G001368" "00328098" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G005198" "00331627" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "family" "" "no" "China" "" "0" "" "" "" "19886" "00331628" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19895" "00331706" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "" "" "" "China" "" "0" "" "" "" "19710" "00332197" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB324" "00332219" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB42" "00332434" "" "" "" "1" "" "00000" "{PMID:Eandi 2017:29142287}" "" "F" "" "Italy" "" "0" "" "" "" "Fam6PatTO7" "00332435" "" "" "" "1" "" "00000" "{PMID:Eandi 2017:29142287}" "" "M" "" "Italy" "" "0" "" "" "" "Fam7PatTO8" "00332443" "" "" "" "2" "" "00000" "{PMID:Eandi 2017:29142287}" "2-generation family, 2 affected" "M" "" "Italy" "" "0" "" "" "" "Fam13PatTO16" "00332444" "" "" "00332443" "1" "" "00000" "{PMID:Eandi 2017:29142287}" "brother" "M" "" "Italy" "" "0" "" "" "" "Fam13PatTO17" "00332446" "" "" "" "1" "" "00000" "{PMID:Eandi 2017:29142287}" "" "M" "" "Italy" "" "0" "" "" "" "Fam15PatTO19" "00332448" "" "" "" "1" "" "00000" "{PMID:Eandi 2017:29142287}" "" "M" "" "Italy" "" "0" "" "" "" "Fam17PatTO21" "00333364" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat4" "00334002" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "519" "00334023" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "542" "00335116" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "5325" "00335252" "" "" "" "1" "" "00000" "{PMID:Riera 2017:28181551}" "patient" "" "" "Spain" "" "0" "" "" "" "Fi15/40" "00335275" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "patient" "" "" "Spain" "" "0" "" "" "" "Pat115" "00335331" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Spain" "" "0" "" "" "" "Pat43" "00335338" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Spain" "" "0" "" "" "" "Pat25" "00358952" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71882" "00358959" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71728" "00358963" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71762" "00359178" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13004358" "00361814" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "M" "?" "Iran" "" "0" "" "" "" "Pat33" "00361816" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "M" "yes" "Iran" "" "0" "" "" "" "Pat34" "00361817" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "M" "?" "Iran" "" "0" "" "" "" "Pat36" "00361821" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "M" "yes" "Iran" "" "0" "" "" "" "Pat38" "00361827" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "yes" "Iran" "" "0" "" "" "" "Pat52" "00361902" "" "" "" "1" "" "03219" "" "" "" "" "" "" "" "" "" "" "" "00362251" "" "" "" "2" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "?" "Iran" "" "0" "" "" "" "Pat35" "00362252" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "yes" "Iran" "" "0" "" "" "" "Pat50" "00362263" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "?" "no" "Mexico" "" "0" "" "" "" "Pat56" "00363232" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "" "Germany" "" "0" "" "" "" "Pat30" "00363319" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "" "Germany" "" "0" "" "" "" "Pat133" "00363320" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "no" "Germany" "" "0" "" "" "" "Pat124" "00363321" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "no" "Germany" "" "0" "" "" "" "Pat45" "00363326" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "no" "Tunisia" "" "0" "" "" "" "Pat65" "00363327" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "Pat92" "00363457" "" "" "" "1" "" "00000" "{PMID:Ge 2015:26667666}" "simplex case" "" "" "United States" "" "0" "" "" "" "5ES+3.87" "00373464" "" "" "" "1" "" "00006" "{PMID:Kikuchi 2015:25692141Kikuchi 2015}" "4-generation family, 1 affected" "F" "" "Japan" "" "0" "" "" "" "patient" "00373944" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-277-591" "00375324" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "simplex case" "" "" "Japan" "" "0" "" "" "" "K6367" "00375325" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "simplex case" "" "" "Japan" "" "0" "" "" "" "K6448" "00375411" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#002" "00375417" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#009" "00375427" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#021" "00375429" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#023" "00375430" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#024" "00376236" "" "" "" "1" "" "00000" "{PMID:Jacobson 2008:18463160}; {PMID:Schwartz 2005:15671307}" "Schwartz:F1 -P6 (27y)" "F" "" "" "" "0" "" "" "" "" "00376237" "" "" "" "1" "" "00000" "{PMID:Jacobson 2008:18463160}; {PMID:Schwartz 2005:15671307}" "Schwartz:F1 -P5 (33y)" "F" "" "" "" "0" "" "" "" "" "00376238" "" "" "" "1" "" "00000" "{PMID:Jacobson 2008:18463160}; {PMID:Schwartz 2005:15671307}" "Schwartz:F1 -P1 (40y)" "F" "" "" "" "0" "" "" "" "" "00376358" "" "" "" "1" "" "04091" "{DOI:Reurink 2021:10.3390/ijms22126419}" "" "" "" "Netherlands" "" "0" "" "" "" "W03-377B" "00379840" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016121919" "00381732" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "no" "" "" "0" "" "" "" "" "00382294" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "123" "00382318" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "147" "00383847" "" "" "" "1" "" "00000" "{PMID:Hariri 2018:31047384}" "" "?" "" "" "" "0" "" "" "" "" "00384219" "" "" "" "2" "" "00000" "{PMID:Pater 2019:31046701}" "Family R2100" "F" "yes" "Canada" "" "0" "" "" "" "V:2" "00384220" "" "" "00384219" "1" "" "00000" "{PMID:Pater 2019:31046701}" "Family R2100" "F" "yes" "Canada" "" "0" "" "" "" "V:3" "00385145" "" "" "" "1" "" "00000" "{PMID:Jiman 2020:31836858}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "20" "00385147" "" "" "" "1" "" "00000" "{PMID:Jiman 2020:31836858}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "23" "00385148" "" "" "" "1" "" "00000" "{PMID:Jiman 2020:31836858}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "24" "00386385" "" "" "" "1" "" "00000" "{PMID:Gonzalez-del Pozo 2020:32050993}" "proband" "F" "" "Spain" "" "0" "" "" "" "III:3" "00386568" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "003-005" "00386576" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "003-063" "00386680" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "184-018" "00386681" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "184-031" "00386684" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "184-163" "00386795" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2951_004536" "00386830" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI636_001300" "00386853" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI731_001448" "00386864" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "001-134" "00386875" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "121-056" "00386881" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "121-578" "00386967" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387116" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "F" "" "(United States)" "" "0" "" "" "white" "142" "00387117" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "white" "143" "00387276" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387279" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00387322" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00388198" "" "" "" "1" "" "00006" "{PMID:Lingao 2016:26894784}" "" "" "" "" "" "0" "" "" "" "Pat8" "00389148" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 138, Usher syndrome type 2, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "432" "00389178" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 149, Usher syndrome type 2, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "462" "00389251" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 182, Usher syndrome type 2, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "535" "00389392" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 244, Usher syndrome type 2, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "676" "00390269" "" "" "" "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" "" "" "" "G001038" "00390270" "" "" "" "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" "" "" "" "G001368" "00390271" "" "" "" "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" "" "" "" "G005198" "00390272" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G012261" "00391374" "" "" "" "1" "" "00000" "{PMID:Méjécase 2020:3278337" "" "?" "" "United Arab Emirates" "" "0" "" "" "" "42" "00391572" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "?" "" "New Zealand" "" "0" "" "" "white" "69" "00392655" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "142" "00393542" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393620" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393956" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00394351" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "US1" "00394690" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "yes" "" "" "0" "" "" "" "" "00394691" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394692" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "?" "" "" "0" "" "" "" "" "00394693" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00396216" "" "" "" "1" "" "00000" "{PMID:SkorczykWerner 2020:33308271}" "" "F" "" "" "" "0" "" "" "Polish" "" "00396226" "" "" "" "1" "" "00000" "{PMID:SkorczykWerner 2020:33308271}" "" "M" "" "" "" "0" "" "" "Polish" "" "00396257" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396258" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396282" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396283" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396334" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396335" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396336" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396337" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396415" "" "" "" "1" "" "00006" "{PMID:Ellingford 2016:26872967}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "11012351" "00396476" "" "" "" "1" "" "00000" "{PMID:Dockery 2017:29099798}" "no patient numbers in the paper, consecutive numbers given" "?" "" "Ireland" "" "0" "" "" "" "9" "00396544" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00402457" "" "" "" "1" "" "00000" "{PMID:Reurink 2021:34203967}" "genetically unexplained subjects from centers in the Netherlands, Ireland and Poland" "?" "" "Netherlands" "" "0" "" "" "" "W03-377B" "00402920" "" "" "" "2" "" "00006" "{PMID:Ozen 2017:28657829}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "Fam5Pat1" "00410946" "" "" "" "1" "" "00000" "{PMID:Wang 2017:29106856}" "" "F" "no" "China" "" "0" "" "" "Chinese" "II-4" "00410947" "" "" "" "1" "" "00000" "{PMID:Wang 2017:29106856}" "" "M" "no" "China" "" "0" "" "" "Chinese" "II-5" "00410948" "" "" "" "1" "" "00000" "{PMID:Moteki 2015:25743181}" "" "F" "no" "" "" "0" "" "" "Japanese" "II-2" "00410949" "" "" "" "1" "" "00000" "{PMID:Moteki 2015:25743181}" "" "F" "no" "" "" "0" "" "" "Japanese" "II-2" "00410950" "" "" "" "1" "" "00000" "{PMID:Moteki 2015:25743181}" "" "M" "no" "" "" "0" "" "" "Japanese" "II-1" "00410951" "" "" "" "1" "" "00000" "{PMID:Moteki 2015:25743181}" "" "M" "no" "" "" "0" "" "" "Japanese" "II-1" "00410952" "" "" "" "3" "" "00000" "{PMID:Bousfiha 2017:28951997}" "2M/1F" "M;F" "no" "" "" "0" "" "" "Marroccan" "3,4,6" "00410953" "" "" "" "1" "" "00000" "{PMID:Zhang 2018:29883260}" "proband" "M" "no" "" "" "0" "" "" "Chinese" "II:2" "00410954" "" "" "" "2" "" "00000" "{PMID:Zhang 2018:29883260}" "sisters of II:2" "F" "no" "" "" "0" "" "" "Chinese" "II:1, II:3" "00410955" "" "" "" "1" "" "00000" "{PMID:Wei 2018:29890953}" "" "M" "yes" "" "" "0" "" "" "Chinese" "IV: 1" "00426944" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 48, individual 57" "F" "" "" "" "0" "" "" "" "48_57" "00430927" "" "" "" "1" "" "04091" "{PMID:Velde 2022:35226187}, {DOI:Velde 2022: 10.1007/s00439-022-02441-0}, {PMID:de Bruijn 2023:36524988}" "" "M" "" "Ireland" "" "0" "" "" "white" "PatD;071951" "00438286" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat4" "00438313" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat31" "00438343" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat61" "00438351" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat69" "00441112" "" "" "" "2" "" "00006" "{PMID:Ammar-Khodja 2015:26029705}" "3-generation family, affected brother/sister, unaffected heterozygous parents/relatives" "" "" "Algeria" "" "0" "" "" "" "Fam9" "00441120" "" "" "" "1" "" "00006" "{PMID:Sang 2019:31379920}" "" "" "" "China" "" "0" "" "" "" "FamHL1121" "00441139" "" "" "" "3" "" "00006" "{PMID:Richard 2019: 30303587}" "7-generation family, 3 affected (2F, M)" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1551" "00446963" "" "" "" "3" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 3 affected" "M" "" "Germany" "" "0" "" "" "" "ADRP--521" "00446974" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "ARRP-385-1" "00446975" "" "" "00446974" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "relative" "F" "" "Germany" "" "0" "" "" "" "ARRP-385-2" "00447131" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "M" "" "Germany" "" "0" "" "" "" "CSNB-144" "00447413" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "USHII-42" "00447415" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "F" "" "Germany" "" "0" "" "" "" "USHII-179" "00447429" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "USHII-341" "00447566" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "MISC-194" "00447606" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1140" "00447638" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "USHII-53" "00447706" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1166" "00448189" "" "" "" "1" "" "00006" "{PMID:Poli 2024:38177409}" "" "M" "" "Chile" "" "0" "" "" "" "Pat95" "00461072" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "M" "" "South Africa" "" "0" "" "" "mixed" "Pat7" "00461091" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "F" "" "South Africa" "" "0" "" "" "white" "Pat26" "00464547" "" "" "" "1" "" "04333" "" "" "F" "yes" "Israel" "" "" "" "" "Muslim Arab" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 435 "{{individualid}}" "{{diseaseid}}" "00001825" "00112" "00003008" "00198" "00016319" "00343" "00016322" "00344" "00016327" "00344" "00059146" "00531" "00059147" "00531" "00059148" "00531" "00143915" "04214" "00155376" "02116" "00166402" "05414" "00166403" "05414" "00166404" "05414" "00166405" "05414" "00166406" "05414" "00166407" "05414" "00166408" "05414" "00166409" "05414" "00166410" "05414" "00166411" "05414" "00166412" "05414" "00166413" "05414" "00166414" "05414" "00166415" "05414" "00166416" "05414" "00166417" "05414" "00166418" "05414" "00166419" "05414" "00166420" "05414" "00166421" "05414" "00166422" "05414" "00166423" "05414" "00166424" "05414" "00166425" "04211" "00166426" "00000" "00166468" "05414" "00166495" "05414" "00166496" "05414" "00166497" "05414" "00166519" "02115" "00166520" "02115" "00166528" "05414" "00166529" "05414" "00166530" "05414" "00166531" "05414" "00166533" "05459" "00166534" "05459" "00166590" "05414" "00166591" "05414" "00166592" "05414" "00166593" "05414" "00166596" "05414" "00166598" "05414" "00166601" "05414" "00166602" "05459" "00166604" "05414" "00166605" "05414" "00166606" "05414" "00166607" "05414" "00166608" "02115" "00166610" "05414" "00166611" "02115" "00166612" "05459" "00166616" "02115" "00166618" "02115" "00166621" "05414" "00166624" "05415" "00166625" "02115" "00166627" "02115" "00166628" "02115" "00166630" "05414" "00166633" "05414" "00166636" "02115" "00166637" "05414" "00166638" "05414" "00166639" "05414" "00166640" "02115" "00166641" "05414" "00166643" "05414" "00166644" "05414" "00166645" "05414" "00166647" "02115" "00166651" "05414" "00166652" "05414" "00166654" "05414" "00166657" "05414" "00166659" "05414" "00166660" "05414" "00166662" "02115" "00166663" "02115" "00166664" "05414" "00166665" "05414" "00166666" "05414" "00166667" "02115" "00166669" "05414" "00166670" "05414" "00166671" "05414" "00166672" "05414" "00166673" "02115" "00166680" "05414" "00166681" "05414" "00166682" "05414" "00166683" "05414" "00166686" "05414" "00166687" "05414" "00166690" "05414" "00166693" "05414" "00166694" "02115" "00166695" "05414" "00166699" "05414" "00166700" "05415" "00166702" "05414" "00166707" "05414" "00166708" "02115" "00166713" "05414" "00166714" "05414" "00166715" "05459" "00166716" "05414" "00166718" "05414" "00166719" "02115" "00166721" "02115" "00166722" "05414" "00166723" "04211" "00166725" "05414" "00166726" "02115" "00166727" "05414" "00166728" "05414" "00166729" "02115" "00166731" "05414" "00166732" "02115" "00166736" "05415" "00166737" "05414" "00166738" "05414" "00166741" "02115" "00166742" "05414" "00166743" "05414" "00166746" "05414" "00166748" "02115" "00166749" "05414" "00166750" "05414" "00166751" "02115" "00166753" "02115" "00166755" "02115" "00166756" "05414" "00166757" "02115" "00166759" "05414" "00166760" "05414" "00166761" "05414" "00166762" "05414" "00166763" "05414" "00166764" "05414" "00166765" "05414" "00166766" "05414" "00166767" "05414" "00166768" "05414" "00166893" "04211" "00166895" "04211" "00166897" "04211" "00166901" "04211" "00166903" "04211" "00166905" "04211" "00166908" "04211" "00167113" "05414" "00167114" "05414" "00167115" "05414" "00167116" "05414" "00167117" "05414" "00167118" "05414" "00167119" "05414" "00167121" "05414" "00167122" "05414" "00167130" "02115" "00167131" "05414" "00167135" "05414" "00167136" "05414" "00167137" "05414" "00167140" "05458" "00167150" "05414" "00167153" "05415" "00167157" "05458" "00167158" "05458" "00167159" "05458" "00167237" "05414" "00167239" "05414" "00167441" "05414" "00167442" "02115" "00167443" "02115" "00167444" "05414" "00167449" "05414" "00167450" "05414" "00167628" "05414" "00167629" "05414" "00167630" "05414" "00167631" "05414" "00167632" "05414" "00167633" "05414" "00167634" "05414" "00167635" "05414" "00167653" "05414" "00167654" "05414" "00167656" "05459" "00167657" "05414" "00167659" "05414" "00167660" "05414" "00167661" "05414" "00167663" "05414" "00167665" "05414" "00167680" "02115" "00167695" "02115" "00167765" "05414" "00167766" "05414" "00167767" "05414" "00167770" "05414" "00167774" "02115" "00167829" "05414" "00167830" "05414" "00167831" "05414" "00167832" "05414" "00167833" "05414" "00167834" "05414" "00167835" "05414" "00167836" "05414" "00167837" "05414" "00167838" "05414" "00167839" "05414" "00167840" "05414" "00167841" "05414" "00167842" "05414" "00167843" "05414" "00167844" "05414" "00167845" "05414" "00167846" "05414" "00167847" "05414" "00167848" "05414" "00167849" "05414" "00167850" "05414" "00168024" "05458" "00168025" "05458" "00235340" "00198" "00276341" "05688" "00293923" "00198" "00293924" "00198" "00293925" "00198" "00293926" "00198" "00293927" "00198" "00293928" "00198" "00293929" "00198" "00293930" "00198" "00293931" "00198" "00293932" "00198" "00293933" "00198" "00293934" "00198" "00293935" "00198" "00293936" "00198" "00293937" "00198" "00293938" "00198" "00295209" "00198" "00299640" "04214" "00305045" "00198" "00305046" "00198" "00308469" "04214" "00308470" "04214" "00308784" "05415" "00308931" "04214" "00308932" "04214" "00308933" "04214" "00308934" "04214" "00308935" "04214" "00308936" "04214" "00309555" "04214" "00309558" "04214" "00309561" "04214" "00309562" "04214" "00309567" "04214" "00309571" "04214" "00309594" "04214" "00309606" "04214" "00309609" "04214" "00325507" "04214" "00327942" "04214" "00328003" "04214" "00328034" "04214" "00328098" "04214" "00331627" "05086" "00331628" "05086" "00331706" "05086" "00332197" "04214" "00332219" "04214" "00332434" "04214" "00332435" "04214" "00332443" "04214" "00332444" "04214" "00332446" "04214" "00332448" "04214" "00333364" "04214" "00334002" "04214" "00334023" "04214" "00335116" "00198" "00335252" "04214" "00335275" "04214" "00335331" "04214" "00335338" "04214" "00358952" "04214" "00358959" "04214" "00358963" "04214" "00359178" "04214" "00361814" "05415" "00361816" "05415" "00361817" "05415" "00361821" "05415" "00361827" "05415" "00361902" "00669" "00361902" "05536" "00362251" "05415" "00362252" "05302" "00362263" "05415" "00363232" "05415" "00363319" "05415" "00363320" "05415" "00363321" "05415" "00363326" "05415" "00363327" "05415" "00363457" "04214" "00373464" "04214" "00373944" "04214" "00375324" "04214" "00375325" "04214" "00375411" "04214" "00375417" "04214" "00375427" "04214" "00375429" "04214" "00375430" "04214" "00376236" "04214" "00376237" "04214" "00376238" "04214" "00376358" "04214" "00379840" "04214" "00381732" "04214" "00382294" "04214" "00382318" "04214" "00383847" "04214" "00384219" "04214" "00384220" "04214" "00385145" "04214" "00385147" "04214" "00385148" "04214" "00386385" "04214" "00386568" "04214" "00386576" "04214" "00386680" "04214" "00386681" "04214" "00386684" "04214" "00386795" "04214" "00386830" "04214" "00386853" "04214" "00386864" "04214" "00386875" "04214" "00386881" "04214" "00386967" "05981" "00387116" "04214" "00387117" "04214" "00387276" "02116" "00387279" "02116" "00387322" "02116" "00388198" "04214" "00389148" "04214" "00389178" "04214" "00389251" "04214" "00389392" "04214" "00390269" "04214" "00390270" "04214" "00390271" "04214" "00390272" "04214" "00391374" "04214" "00391572" "04214" "00392655" "04214" "00393542" "04214" "00393620" "04214" "00393956" "04214" "00394351" "04214" "00394690" "04214" "00394691" "04214" "00394692" "04214" "00394693" "04214" "00396216" "04214" "00396226" "04214" "00396257" "04214" "00396258" "04214" "00396282" "04214" "00396283" "04214" "00396334" "04214" "00396335" "04214" "00396336" "04214" "00396337" "04214" "00396415" "04214" "00396476" "04214" "00396544" "04214" "00402457" "04214" "00402920" "05992" "00410946" "04214" "00410947" "04214" "00410948" "04214" "00410949" "04214" "00410950" "04214" "00410951" "04214" "00410952" "04214" "00410953" "04214" "00410954" "04214" "00410955" "04214" "00426944" "04214" "00430927" "04214" "00438286" "04270" "00438313" "04270" "00438343" "04270" "00438351" "04270" "00441112" "05086" "00441120" "05086" "00441139" "05086" "00446963" "00198" "00446974" "00198" "00446975" "00198" "00447131" "00198" "00447413" "00198" "00447415" "00198" "00447429" "00198" "00447566" "00198" "00447606" "00198" "00447638" "00198" "00447706" "00198" "00448189" "00198" "00461072" "04214" "00461091" "04214" "00464547" "00139" "00464547" "00669" "00464547" "05517" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00112, 00139, 00198, 00343, 00344, 00531, 00669, 02115, 02116, 02499, 04211, 04214, 04270, 05086, 05302, 05414, 05415, 05458, 05459, 05517, 05536, 05688, 05981, 05992 ## Count = 404 "{{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}}" "0000001859" "00198" "00003008" "00130" "Familial, autosomal recessive" "" "progressive hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000014924" "00343" "00016319" "00681" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000014935" "00344" "00016322" "00681" "Unknown" "" "diagnosis: epileptic encephalopathy and pervasive developmental disorder" "" "" "" "" "" "" "" "" "" "" "" "0000014940" "00344" "00016327" "00681" "Unknown" "" "epileptic encephalopathy with severe cognitive impairment" "" "" "" "" "" "" "" "" "" "" "" "0000116693" "04214" "00143915" "01780" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000127876" "02116" "00155376" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131266" "05414" "00166402" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131267" "05414" "00166403" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131268" "05414" "00166404" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131269" "05414" "00166405" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131270" "05414" "00166406" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131271" "05414" "00166407" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131272" "05414" "00166408" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131273" "05414" "00166409" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131274" "05414" "00166410" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131275" "05414" "00166411" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131276" "05414" "00166412" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131277" "05414" "00166413" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131278" "05414" "00166414" "00110" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131279" "05414" "00166415" "00110" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131280" "05414" "00166416" "00110" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131281" "05414" "00166417" "00110" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131282" "05414" "00166418" "00110" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131283" "05414" "00166419" "00110" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131284" "05414" "00166420" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131285" "05414" "00166421" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131286" "05414" "00166422" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131287" "05414" "00166423" "00110" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131288" "05414" "00166424" "00110" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131289" "04211" "00166425" "00110" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131290" "00000" "00166426" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000131332" "05414" "00166468" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131359" "05414" "00166495" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131360" "05414" "00166496" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131361" "05414" "00166497" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131383" "02115" "00166519" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131384" "02115" "00166520" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131392" "05414" "00166528" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131393" "05414" "00166529" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131394" "05414" "00166530" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131395" "05414" "00166531" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131397" "05459" "00166533" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131398" "05459" "00166534" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131454" "05414" "00166590" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131455" "05414" "00166591" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131456" "05414" "00166592" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131457" "05414" "00166593" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131460" "05414" "00166596" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131462" "05414" "00166598" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131465" "05414" "00166601" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131466" "05459" "00166602" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131468" "05414" "00166604" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131469" "05414" "00166605" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131470" "05414" "00166606" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131471" "05414" "00166607" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131472" "02115" "00166608" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131474" "05414" "00166610" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131475" "02115" "00166611" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131476" "05459" "00166612" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131480" "02115" "00166616" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131482" "02115" "00166618" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131485" "05414" "00166621" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131488" "05415" "00166624" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000131489" "02115" "00166625" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131491" "02115" "00166627" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131492" "02115" "00166628" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131494" "05414" "00166630" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131497" "05414" "00166633" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131500" "02115" "00166636" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131501" "05414" "00166637" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131502" "05414" "00166638" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131503" "05414" "00166639" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131504" "02115" "00166640" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131505" "05414" "00166641" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131507" "05414" "00166643" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131508" "05414" "00166644" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131509" "05414" "00166645" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131511" "02115" "00166647" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131515" "05414" "00166651" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131516" "05414" "00166652" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131518" "05414" "00166654" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131521" "05414" "00166657" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131523" "05414" "00166659" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131524" "05414" "00166660" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131526" "02115" "00166662" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131527" "02115" "00166663" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131528" "05414" "00166664" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131529" "05414" "00166665" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131530" "05414" "00166666" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131531" "02115" "00166667" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131533" "05414" "00166669" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131534" "05414" "00166670" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131535" "05414" "00166671" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131536" "05414" "00166672" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131537" "02115" "00166673" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131544" "05414" "00166680" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131545" "05414" "00166681" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131546" "05414" "00166682" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131547" "05414" "00166683" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131550" "05414" "00166686" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131551" "05414" "00166687" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131554" "05414" "00166690" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131557" "05414" "00166693" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131558" "02115" "00166694" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131559" "05414" "00166695" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131563" "05414" "00166699" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131564" "05415" "00166700" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000131566" "05414" "00166702" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131571" "05414" "00166707" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131572" "02115" "00166708" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131577" "05414" "00166713" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131578" "05414" "00166714" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131579" "05459" "00166715" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131580" "05414" "00166716" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131582" "05414" "00166718" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131583" "02115" "00166719" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131585" "02115" "00166721" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131586" "05414" "00166722" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131587" "04211" "00166723" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131589" "05414" "00166725" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131590" "02115" "00166726" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131591" "05414" "00166727" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131592" "05414" "00166728" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131593" "02115" "00166729" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131595" "05414" "00166731" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131596" "02115" "00166732" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131600" "05415" "00166736" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000131601" "05414" "00166737" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131602" "05414" "00166738" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131605" "02115" "00166741" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131606" "05414" "00166742" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131607" "05414" "00166743" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131610" "05414" "00166746" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131612" "02115" "00166748" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131613" "05414" "00166749" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131614" "05414" "00166750" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131615" "02115" "00166751" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131617" "02115" "00166753" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131619" "02115" "00166755" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131620" "05414" "00166756" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131621" "02115" "00166757" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131623" "05414" "00166759" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131624" "05414" "00166760" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131625" "05414" "00166761" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131626" "05414" "00166762" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131627" "05414" "00166763" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131628" "05414" "00166764" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131629" "05414" "00166765" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131630" "05414" "00166766" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131631" "05414" "00166767" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131632" "05414" "00166768" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131757" "04211" "00166893" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131759" "04211" "00166895" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131761" "04211" "00166897" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131765" "04211" "00166901" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131767" "04211" "00166903" "02416" "Familial, autosomal recessive" "" "malignant hypertension with renal failure, followed by transplant" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131769" "04211" "00166905" "02416" "Familial, autosomal recessive" "" "lumped pigmentary retinal degeneration, early onset; ferriprive anemia" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131772" "04211" "00166908" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131977" "05414" "00167113" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131978" "05414" "00167114" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131979" "05414" "00167115" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131980" "05414" "00167116" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131981" "05414" "00167117" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131982" "05414" "00167118" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131983" "05414" "00167119" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131985" "05414" "00167121" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131986" "05414" "00167122" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131994" "02115" "00167130" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131995" "05414" "00167131" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131999" "05414" "00167135" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132000" "05414" "00167136" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132001" "05414" "00167137" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132004" "05458" "00167140" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132014" "05414" "00167150" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132017" "05415" "00167153" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000132021" "05458" "00167157" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132022" "05458" "00167158" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132023" "05458" "00167159" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132101" "05414" "00167237" "00143" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132103" "05414" "00167239" "00143" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132305" "05414" "00167441" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132306" "02115" "00167442" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132307" "02115" "00167443" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132308" "05414" "00167444" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132313" "05414" "00167449" "00764" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132314" "05414" "00167450" "00764" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132492" "05414" "00167628" "00764" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132493" "05414" "00167629" "00764" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132494" "05414" "00167630" "00764" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132495" "05414" "00167631" "00764" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132496" "05414" "00167632" "00764" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132497" "05414" "00167633" "00764" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132498" "05414" "00167634" "00764" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132499" "05414" "00167635" "00764" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132517" "05414" "00167653" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132518" "05414" "00167654" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132520" "05459" "00167656" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132521" "05414" "00167657" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132523" "05414" "00167659" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132524" "05414" "00167660" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132525" "05414" "00167661" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132527" "05414" "00167663" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132529" "05414" "00167665" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132544" "02115" "00167680" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132559" "02115" "00167695" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132629" "05414" "00167765" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132630" "05414" "00167766" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132631" "05414" "00167767" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132634" "05414" "00167770" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132638" "02115" "00167774" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132693" "05414" "00167829" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132694" "05414" "00167830" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132695" "05414" "00167831" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132696" "05414" "00167832" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132697" "05414" "00167833" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132698" "05414" "00167834" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132699" "05414" "00167835" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132700" "05414" "00167836" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132701" "05414" "00167837" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132702" "05414" "00167838" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132703" "05414" "00167839" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132704" "05414" "00167840" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132705" "05414" "00167841" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132706" "05414" "00167842" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132707" "05414" "00167843" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132708" "05414" "00167844" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132709" "05414" "00167845" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132710" "05414" "00167846" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132711" "05414" "00167847" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132712" "05414" "00167848" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132713" "05414" "00167849" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132714" "05414" "00167850" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132888" "05458" "00168024" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132889" "05458" "00168025" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000175602" "00198" "00235340" "01807" "Unknown" "" "Rod-cone dystrophy (HP:0000510); Hearing impairment (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "0000210930" "05688" "00276341" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., bilateral hip dislocations, short upper limbs, normal developmental milestones, delayed speech, flat midface, short upturned nose, thin lips, mild rhizomelic shortening upper limbs with contractures right elbow, genu valgum with mild bowing femur; 2y6m severe bilateral sensorineural hearing loss" "" "" "" "" "" "" "" "" "STLS" "osteochondrodysplasia" "" "0000226950" "04214" "00299640" "00006" "Familial, autosomal recessive" "37y" "see paper; ..., 20y-reduced acuity (HP:0007663), mild nyctalopia (HP:0000662), blind spots (HP:0000575); irregular peripheral pigment (HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), vitreous opacities (HP:0007648), attenuated sheathed vessels (HP:0007843), peripheral retinal exudate (HP:0001147); 30y-subnormal PERG, rod specific ERG markedly subnormal, bright flash subnormal with unusual bifid b waves, cone specific delayed and subnormal, profound rod>cone dysfunction; 29y-colour vision Ishihara R 17/17 L 13/17; 36y-octopus visual fields central 20-30 degrees retained on R, 30-50 degrees on L;37y 24-2 central scotomas, fields constricted to 15 degrees each eye; presenting VA logMAR (Snellen) R 0.3 (20/40), L 0.18 (20/30); latest VA logMAR R 0.6 (20/80), L 0.6 (20/80); latest refractive error, dioptres R 0/-0.50x100, L +1.00/-0.75x110" "20y" "" "" "" "" "" "" "" "RP78" "retinitis pigmentosa" "" "0000233897" "04214" "00308469" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000233898" "04214" "00308470" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234106" "05415" "00308784" "00004" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "USH2" "" "0000234251" "04214" "00308931" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000234252" "04214" "00308932" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000234253" "04214" "00308933" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000234254" "04214" "00308934" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000234255" "04214" "00308935" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000234256" "04214" "00308936" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000234875" "04214" "00309555" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000234878" "04214" "00309558" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000234881" "04214" "00309561" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000234882" "04214" "00309562" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000234887" "04214" "00309567" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000234891" "04214" "00309571" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000234914" "04214" "00309594" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000234926" "04214" "00309606" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000234929" "04214" "00309609" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000243994" "04214" "00325507" "00006" "Familial, autosomal recessive" "" "syndromic retinal dystrophy" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000246169" "04214" "00327942" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000246230" "04214" "00328003" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000246261" "04214" "00328034" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000246325" "04214" "00328098" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000249819" "05086" "00331627" "00000" "Familial, autosomal recessive" "30y" "" "4y" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000249820" "05086" "00331628" "00000" "Familial, autosomal recessive" "22y" "moderate hearing loss" "9y" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000249898" "05086" "00331706" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000250384" "04214" "00332197" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000250406" "04214" "00332219" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000250618" "04214" "00332434" "00000" "Familial, autosomal recessive" "21y" "see paper; ..., 10y-onset visual impairment" "2y" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000250619" "04214" "00332435" "00000" "Familial, autosomal recessive" "54y" "see paper; ..., 30y-onset visual impairment" "6y" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000250627" "04214" "00332443" "00000" "Familial, autosomal recessive" "12y" "see paper; ..., 1y-onset visual impairment" "1d" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000250628" "04214" "00332444" "00000" "Familial, autosomal recessive" "23y" "see paper; ..., 4y-onset visual impairment" "18m" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000250630" "04214" "00332446" "00000" "Familial, autosomal recessive" "20y" "see paper; ..., 17y-onset visual impairment" "11m" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000250632" "04214" "00332448" "00000" "Familial, autosomal recessive" "53y" "see paper; ..., 38y-onset visual impairment" "5y" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000251551" "04214" "00333364" "00000" "Unknown" "17y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252187" "04214" "00334002" "00000" "Familial, autosomal recessive" "38y" "clinical category IB1a" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252208" "04214" "00334023" "00000" "Familial, autosomal recessive" "42y" "clinical category IB1b" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252831" "00198" "00335116" "00000" "Unknown" "" "Usher syndrome; 32y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252967" "04214" "00335252" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252990" "04214" "00335275" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253045" "04214" "00335331" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253052" "04214" "00335338" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254250" "04214" "00358952" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000254257" "04214" "00358959" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254261" "04214" "00358963" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254475" "04214" "00359178" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000257209" "05415" "00361814" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000257211" "05415" "00361816" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000257212" "05415" "00361817" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000257216" "05415" "00361821" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000257220" "05415" "00361827" "02404" "Familial, autosomal recessive" "" "Dual molecular genetic diagnosis with Stargardt syndrome." "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000257298" "00669" "00361902" "03219" "Familial, autosomal recessive" "" "Deafness, blurring of vision, generalised hypopigmentation, light coloured iris" "" "" "" "" "" "" "" "" "" "" "" "0000257665" "05415" "00362251" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000257666" "05302" "00362252" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Scheie syndrome" "Usher syndrome" "" "0000257674" "05415" "00362263" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000258597" "05415" "00363232" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, atypical" "" "0000258684" "05415" "00363319" "00000" "Familial, autosomal recessive" "28y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000258685" "05415" "00363320" "00000" "Familial, autosomal recessive" "45y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000258686" "05415" "00363321" "00000" "Familial, autosomal recessive" "17y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000258691" "05415" "00363326" "00000" "Unknown" "27y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II, monoallelic" "" "0000258692" "05415" "00363327" "00000" "Unknown" "25y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II, monoallelic" "" "0000258818" "04214" "00363457" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268740" "04214" "00373464" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000269153" "04214" "00373944" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000270538" "04214" "00375324" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000270539" "04214" "00375325" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000270625" "04214" "00375411" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270631" "04214" "00375417" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270641" "04214" "00375427" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270643" "04214" "00375429" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270644" "04214" "00375430" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271444" "04214" "00376236" "00000" "Familial, autosomal recessive" "31y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000271445" "04214" "00376237" "00000" "Familial, autosomal recessive" "33y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000271446" "04214" "00376238" "00000" "Familial, autosomal recessive" "42y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000271566" "04214" "00376358" "04091" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "USH2" "" "0000273694" "04214" "00379840" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa?" "" "0000275574" "04214" "00381732" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276143" "04214" "00382294" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276167" "04214" "00382318" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277632" "04214" "00383847" "00000" "Familial, autosomal recessive" "82y" "BCVA OD-OS: light perception-light perception" "" "73y" "" "" "" "" "" "" "" "" "" "0000278004" "04214" "00384219" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000278005" "04214" "00384220" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000278941" "04214" "00385145" "00000" "Familial, autosomal recessive" "29y1m" "HP:0008527 Congenital sensorineural hearing impairment; HP:0000510 Rod cone dystrophy" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000278943" "04214" "00385147" "00000" "Familial, autosomal recessive" "24y5m" "HP:0008527 Congenital sensorineural hearing impairment; HP:0000510 Rod cone dystrophy" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000278944" "04214" "00385148" "00000" "Familial, autosomal recessive" "32y4m" "HP:0008527 Congenital sensorineural hearing impairment; HP:0000510 Rod cone dystrophy" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000280193" "04214" "00386385" "00000" "Familial, autosomal recessive" "38y" "Night blindness, reduction of the visual field" "22y" "" "Night blindness" "" "" "" "" "" "Retinitis pigmentosa" "autosomal dominant etinitis pigmentosa" "" "0000280368" "04214" "00386568" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280376" "04214" "00386576" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280480" "04214" "00386680" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280481" "04214" "00386681" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280484" "04214" "00386684" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280595" "04214" "00386795" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280630" "04214" "00386830" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280653" "04214" "00386853" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280664" "04214" "00386864" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280675" "04214" "00386875" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280681" "04214" "00386881" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280894" "04214" "00387116" "00000" "Familial, autosomal recessive" "41y" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "" "0000280895" "04214" "00387117" "00000" "Familial, autosomal recessive" "24y" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "" "0000281791" "04214" "00388198" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000282689" "04214" "00389148" "00000" "Familial, autosomal recessive" "82y" "age at genetic diagnosis mentioned" "" "74y" "" "" "" "" "" "" "Usher syndrome type 2" "" "" "0000282719" "04214" "00389178" "00000" "Familial, autosomal recessive" "50y" "age at genetic diagnosis mentioned" "" "43y" "" "" "" "" "" "" "Usher syndrome type 2" "" "" "0000282792" "04214" "00389251" "00000" "Familial, autosomal recessive" "27y" "age at genetic diagnosis mentioned" "" "25y" "" "" "" "" "" "" "Usher syndrome type 2" "" "" "0000282933" "04214" "00389392" "00000" "Familial, autosomal recessive" "48y" "age at genetic diagnosis mentioned" "" "43y" "" "" "" "" "" "" "Usher syndrome type 2" "" "" "0000283807" "04214" "00390269" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283808" "04214" "00390270" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283809" "04214" "00390271" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283810" "04214" "00390272" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284814" "04214" "00391374" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 2C (605472)" "Usher syndrome, type 2C (605472)" "" "0000284908" "04214" "00391572" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Ushers/rod-cone dystrophy" "" "0000285902" "04214" "00392655" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000286748" "04214" "00393542" "00000" "Familial, autosomal recessive" "52y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286826" "04214" "00393620" "00000" "Isolated (sporadic)" "45y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287162" "04214" "00393956" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287555" "04214" "00394351" "00000" "Familial, autosomal recessive" "" "USH2C, congenital hearing impairment vision loss 12 y, N/A" "12y" "" "" "" "" "" "" "" "Usher syndrome" "" "" "0000287893" "04214" "00394690" "00000" "Familial, autosomal recessive" "55y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000287894" "04214" "00394691" "00000" "Familial, autosomal recessive" "32y" "" "15y" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000287895" "04214" "00394692" "00000" "Familial, autosomal recessive" "55y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000287896" "04214" "00394693" "00000" "Familial, autosomal recessive" "64y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000289378" "04214" "00396216" "00000" "Familial, autosomal recessive" "10y" "2 month: nystagmus, oculo-digital sign, photophobia,no fixation, nopacing, no eye contact" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000289388" "04214" "00396226" "00000" "Familial, autosomal recessive" "15y" "3 months: nystagmus, strabismus" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000289419" "04214" "00396257" "00000" "Familial, autosomal recessive" "36y11m" "atypical vestibular findings, Moderate hearing loss," "" "" "" "" "" "" "" "" "" "Usher syndrome type II (USH2)" "" "0000289420" "04214" "00396258" "00000" "Familial, autosomal recessive" "29y11m" "atypical vestibular findings, Moderate hearing loss, Present cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type II (USH2)" "" "0000289444" "04214" "00396282" "00000" "Familial, autosomal recessive" "36y11m" "atypical vestibular findings, Moderate hearing loss," "" "" "" "" "" "" "" "" "" "Usher syndrome type II (USH2)" "" "0000289445" "04214" "00396283" "00000" "Familial, autosomal recessive" "29y11m" "atypical vestibular findings, Moderate hearing loss, Present cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type II (USH2)" "" "0000289496" "04214" "00396334" "00000" "Familial, autosomal recessive" "64y7m" "typical vestibular findings, Moderate hearing loss," "" "" "" "" "" "" "" "" "" "Usher syndrome type II (USH2)" "" "0000289497" "04214" "00396335" "00000" "Familial, autosomal recessive" "36y2m" "typical vestibular findings, Moderate hearing loss," "" "" "" "" "" "" "" "" "" "Usher syndrome type II (USH2)" "" "0000289498" "04214" "00396336" "00000" "Familial, autosomal recessive" "51y1m" "typical vestibular findings, Severe hearing loss," "" "" "" "" "" "" "" "" "" "Usher syndrome type II (USH2)" "" "0000289499" "04214" "00396337" "00000" "Familial, autosomal recessive" "39y5m" "typical vestibular findings, Moderate hearing loss," "" "" "" "" "" "" "" "" "" "Usher syndrome type II (USH2)" "" "0000289577" "04214" "00396415" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000289637" "04214" "00396476" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome Type II" "" "" "0000289705" "04214" "00396544" "00000" "Isolated (sporadic)" "11y" "night blindness" "10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000295220" "04214" "00402457" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome 2A" "" "" "0000295668" "05992" "00402920" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CHAPLE" "protein-losing enteropathy, thrombosis" "" "0000303036" "04214" "00410946" "00000" "Familial, autosomal recessive" "67y" "heterochromia irides, night blindness and vision acuity impairment, constriction of the peripheral visual field, with mild-to-severe loss of central vision, attenuation of the retinal vessels, waxy pallor of the optic nerve head, and bone speckle-like pigmentation clumps in the peripheral retina" "" "" "" "" "" "" "" "" "Usher syndrome type II (USH2)" "bilateral moderate-to-severe hearing impairment" "" "0000303037" "04214" "00410947" "00000" "Familial, autosomal recessive" "64y" "night blindness and vision acuity impairment, constriction of the peripheral visual field, with mild-to-severe loss of central vision, attenuation of the retinal vessels, waxy pallor of the optic nerve head, and bone speckle-like pigmentation clumps in the peripheral retina" "" "" "" "" "" "" "" "" "Usher syndrome type II (USH2)" "bilateral moderate-to-severe hearing impairment" "" "0000303038" "04214" "00410948" "00000" "Familial, autosomal recessive" "16y" "complete bilateral absence" "" "" "moderate sloping hearing loss, and no progression was observed over a period of 10 years." "" "" "" "" "" "" "Usher syndrome type 2 (USH2)" "" "0000303039" "04214" "00410949" "00000" "Familial, autosomal recessive" "16y" "complete bilateral absence" "" "" "moderate sloping hearing loss, and no progression was observed over a period of 10 years." "" "" "" "" "" "" "Usher syndrome type 2 (USH2)" "" "0000303040" "04214" "00410950" "00000" "Familial, autosomal recessive" "18y" "complete bilateral absence" "" "" "night blindness" "" "" "" "" "" "" "Usher syndrome type 2 (USH2)" "" "0000303041" "04214" "00410951" "00000" "Familial, autosomal recessive" "18y" "complete bilateral absence" "" "" "night blindness" "" "" "" "" "" "" "Usher syndrome type 2 (USH2)" "" "0000303042" "04214" "00410952" "00000" "Familial, autosomal recessive" "" "post-linguale bilateral moderate hearing loss with normal vestibular functions and before installing visual disturbances." "" "" "" "" "" "" "" "" "" "Usher syndrome type 2 (USH2)" "" "0000303043" "04214" "00410953" "00000" "Familial, autosomal recessive" "" "20y: hearing disorder began; typical RP with attenuated retinal vessels, exposure of choroidal vessels due to the atrophy of retina, irregular retinal pigmentation, and waxy pallor of the optic disk; see paper" "18y" "" "night blindness and vision loss" "" "" "" "" "" "" "Usher syndrome type 2 (USH2)" "" "0000303044" "04214" "00410954" "00000" "Familial, autosomal recessive" "" "no night blindness, but had similar fundus abnormalities of RP, sensorineural hearing impairment, and inarticulate pronunciation o the brother II:2" "" "" "" "" "" "" "" "" "" "Usher syndrome type 2 (USH2)" "" "0000303045" "04214" "00410955" "00000" "Familial, autosomal recessive" "" "" "" "" "hearing loss and vision defect" "" "" "" "" "" "" "Usher syndrome type 2 (USH2)" "" "0000318082" "04214" "00426944" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000321536" "04214" "00430927" "04091" "Familial, autosomal recessive" "87y" "see paper" "" "" "" "" "" "" "" "" "USH4" "Usher syndrome" "" "0000328190" "04270" "00438286" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures" "3y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328217" "04270" "00438313" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0003593 infantile onset; HP:0011182 epileptiform eeg discharges; HP:0012751 abnormal basal ganglia mri signal intensity; HP:0012469 infantile spasms" "3d" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328247" "04270" "00438343" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0001249 intellectual disability" "1y6m" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328255" "04270" "00438351" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures" "3y2m" "" "" "" "" "" "" "" "" "epilepsy" "" "0000330552" "05086" "00441112" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "moderate deafness, retinal defect" "" "0000330560" "05086" "00441120" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000330579" "05086" "00441139" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000336162" "00198" "00446963" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" "0000336173" "00198" "00446974" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336174" "00198" "00446975" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336330" "00198" "00447131" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000336612" "00198" "00447413" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000336614" "00198" "00447415" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000336628" "00198" "00447429" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000336765" "00198" "00447566" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" "0000336805" "00198" "00447606" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336837" "00198" "00447638" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000336905" "00198" "00447706" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000337399" "00198" "00448189" "00006" "Unknown" "15y" "intellectual disability; seizures; microcephaly; short stature; ventricular septal defects; micropenis; dysmorphic facial features" "" "" "" "" "" "" "" "" "" "rare disorder" "" "0000348572" "04214" "00461072" "00006" "Familial, autosomal recessive" "" "" "8y" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000348591" "04214" "00461091" "00006" "Familial, autosomal recessive" "" "" "66y" "" "" "" "" "" "" "" "" "Usher syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 433 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000079" "00000079" "1" "00004" "" "2012-05-11 13:19:05" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000001628" "00001825" "1" "00102" "00102" "2013-08-08 23:24:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000002914" "00003008" "2" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" "" "0000016248" "00016319" "1" "00681" "00681" "2014-03-12 11:50:31" "00006" "2014-03-12 21:31:13" "SEQ;SEQ-NG-I" "DNA" "" "" "0000016251" "00016322" "1" "00681" "00681" "2014-03-12 13:37:40" "00006" "2014-03-14 16:32:42" "SEQ;SEQ-NG-I" "DNA" "" "" "0000016256" "00016327" "1" "00681" "00681" "2014-03-12 14:31:55" "00006" "2014-03-12 21:49:07" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059119" "00059146" "1" "01551" "01551" "2016-02-29 10:08:48" "00006" "2016-05-02 22:36:47" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059120" "00059147" "1" "01551" "01551" "2016-02-29 10:12:12" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059121" "00059148" "1" "01551" "01551" "2016-02-29 10:15:06" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000144774" "00143915" "1" "01780" "00006" "2017-11-28 22:45:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000156241" "00155376" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000167281" "00166402" "1" "00110" "00110" "2010-03-05 15:43:02" "00110" "2012-04-06 15:42:48" "SEQ" "DNA" "" "" "0000167282" "00166403" "1" "00110" "00110" "2010-03-05 15:44:56" "00110" "2012-04-06 15:42:48" "SEQ" "DNA" "" "" "0000167283" "00166404" "1" "00110" "00110" "2010-03-05 15:47:13" "00110" "2012-04-06 15:42:48" "SEQ" "DNA" "" "" "0000167284" "00166405" "1" "00110" "00110" "2010-03-05 15:50:16" "00110" "2012-04-06 15:42:48" "SEQ" "DNA" "" "" "0000167285" "00166406" "1" "00110" "00110" "2010-03-05 15:53:35" "00110" "2011-02-08 17:21:29" "SEQ" "DNA" "" "" "0000167286" "00166407" "1" "00110" "00110" "2010-03-05 15:54:56" "00110" "2011-02-08 17:21:29" "SEQ" "DNA" "" "" "0000167287" "00166408" "1" "00110" "00110" "2010-03-05 15:55:56" "00110" "2011-02-08 17:21:29" "SEQ" "DNA" "" "" "0000167288" "00166409" "1" "00110" "00110" "2010-03-05 15:58:50" "00110" "2012-04-06 16:02:02" "SEQ" "DNA" "" "" "0000167289" "00166410" "1" "00110" "00110" "2010-03-05 16:32:05" "00110" "2010-09-13 17:13:30" "SEQ" "DNA" "" "" "0000167290" "00166411" "1" "00110" "00110" "2010-03-05 16:38:37" "00110" "2010-09-13 17:13:30" "SEQ" "DNA" "" "" "0000167291" "00166412" "1" "00110" "00110" "2010-03-05 16:41:41" "00110" "2010-09-13 17:13:30" "SEQ" "DNA" "" "" "0000167292" "00166413" "1" "00110" "00110" "2010-03-05 16:43:24" "00110" "2010-09-13 17:13:30" "SEQ" "DNA" "" "" "0000167293" "00166414" "1" "00110" "00110" "2010-03-05 16:53:19" "00110" "2012-04-06 16:02:02" "SEQ" "DNA" "" "" "0000167294" "00166415" "1" "00110" "00110" "2010-03-08 10:00:48" "00110" "2012-08-13 11:06:29" "SEQ" "DNA" "" "" "0000167295" "00166416" "1" "00110" "00110" "2010-03-08 10:01:50" "00110" "2012-08-13 11:06:29" "SEQ" "DNA" "" "" "0000167296" "00166417" "1" "00110" "00110" "2010-03-08 10:03:04" "00110" "2012-08-13 11:06:29" "SEQ" "DNA" "" "" "0000167297" "00166418" "1" "00110" "00110" "2010-03-08 10:04:03" "00110" "2012-08-13 11:06:29" "SEQ" "DNA" "" "" "0000167298" "00166419" "1" "00110" "00110" "2010-03-08 10:05:35" "00110" "2012-08-13 11:06:29" "SEQ" "DNA" "" "" "0000167299" "00166420" "1" "00110" "00110" "2010-03-08 11:40:29" "00110" "2012-04-06 15:42:24" "SEQ" "DNA" "" "" "0000167300" "00166421" "1" "00110" "00110" "2010-03-08 11:45:53" "00110" "2010-10-01 11:29:24" "SEQ" "DNA" "" "" "0000167301" "00166422" "1" "00110" "00110" "2010-03-08 11:48:12" "00110" "2010-10-01 11:29:24" "SEQ" "DNA" "" "" "0000167302" "00166423" "1" "00110" "00110" "2010-03-09 14:27:14" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000167303" "00166424" "1" "00110" "00110" "2010-03-09 14:28:49" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000167304" "00166425" "1" "00110" "00110" "2010-03-09 14:30:53" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000167305" "00166426" "1" "00110" "00110" "2010-03-09 15:11:47" "00110" "2010-09-13 17:13:30" "SEQ" "DNA" "" "" "0000167347" "00166468" "1" "02416" "02416" "2010-06-10 12:03:37" "00110" "2010-07-07 17:46:01" "SEQ" "DNA" "" "" "0000167374" "00166495" "1" "02416" "02416" "2011-02-08 17:22:02" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX" "0000167375" "00166496" "1" "02416" "02416" "2011-02-08 17:23:48" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX" "0000167376" "00166497" "1" "02416" "02416" "2011-02-08 17:25:13" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX" "0000167398" "00166519" "1" "02416" "02416" "2011-05-25 14:15:24" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000167399" "00166520" "1" "02416" "02416" "2011-05-25 14:30:52" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000167407" "00166528" "1" "02416" "02416" "2011-05-26 10:34:24" "00110" "2012-04-06 16:05:33" "SEQ" "DNA" "" "" "0000167408" "00166529" "1" "02416" "02416" "2011-05-26 10:43:19" "00110" "2017-08-14 15:23:30" "SEQ" "DNA" "" "" "0000167409" "00166530" "1" "02416" "02416" "2011-05-26 11:05:33" "00110" "2012-04-06 15:44:40" "SEQ" "DNA" "" "" "0000167410" "00166531" "1" "02416" "02416" "2011-05-26 11:09:38" "00110" "2011-05-26 11:10:47" "SEQ" "DNA" "" "" "0000167412" "00166533" "1" "02416" "02416" "2011-05-26 11:52:31" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000167413" "00166534" "1" "02416" "02416" "2011-05-26 11:55:30" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000167469" "00166590" "1" "02419" "02419" "2011-09-12 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"2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295106" "00293938" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296377" "00295209" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000300750" "00299640" "1" "00006" "00006" "2020-04-18 08:53:03" "00006" "2020-04-18 08:55:30" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000306174" "00305045" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306175" "00305046" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309614" "00308469" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309615" "00308470" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309929" "00308784" "1" "00004" "00006" "2020-08-27 19:07:12" "" "" "SEQ;SEQ-NG" 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15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000310716" "00309571" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000310739" "00309594" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000310751" "00309606" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000310754" "00309609" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000326718" "00325507" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000329157" "00327942" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WES" "0000329218" "00328003" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329249" "00328034" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329313" "00328098" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000332846" "00331627" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000332847" "00331628" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000332925" "00331706" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000333417" "00332197" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000333439" "00332219" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000333658" "00332434" "1" "00000" "00006" "2021-02-19 11:58:15" "" "" "SEQ-NG" "DNA" "" "11-gene panel" "0000333659" "00332435" "1" "00000" "00006" "2021-02-19 11:58:15" "" "" "SEQ-NG" "DNA" "" "11-gene panel" "0000333667" "00332443" "1" "00000" "00006" "2021-02-19 11:58:15" "" "" "SEQ-NG" "DNA" "" "11-gene panel" "0000333668" "00332444" "1" "00000" "00006" "2021-02-19 11:58:15" "" "" "SEQ-NG" "DNA" "" "11-gene panel" "0000333670" "00332446" "1" "00000" "00006" "2021-02-19 11:58:15" "" "" "SEQ-NG" "DNA" "" "11-gene panel" "0000333672" "00332448" "1" "00000" "00006" "2021-02-19 11:58:15" "" "" "SEQ-NG" "DNA" "" "11-gene panel" "0000334589" "00333364" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000335228" "00334002" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335249" "00334023" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000336345" "00335116" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336481" "00335252" "1" "00000" "00006" "2021-03-04 14:06:09" "" "" "SEQ-NG" "DNA" "" "212-gene panel" "0000336504" "00335275" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000336560" "00335331" "1" "02485" "00006" "2021-03-04 17:06:33" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000336567" "00335338" "1" "02485" "00006" "2021-03-04 17:06:33" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000360189" "00358952" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360196" "00358959" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360200" "00358963" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360416" "00359178" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000363042" "00361814" "1" "02404" "02404" "2021-04-11 12:02:10" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000363044" "00361816" "1" "02404" "02404" "2021-04-11 12:09:46" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000363045" "00361817" "1" "02404" "02404" "2021-04-11 12:16:56" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000363049" "00361821" "1" "02404" "02404" "2021-04-11 12:32:09" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000363055" "00361827" "1" "02404" "02404" "2021-04-11 12:57:56" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000363130" "00361902" "1" "03219" "03219" "2021-04-12 06:39:38" "" "" "SEQ-NG" "DNA" "" "" "0000363480" "00362251" "1" "02404" "02404" "2021-04-17 13:57:30" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000363481" "00362252" "1" "02404" "02404" "2021-04-17 14:10:07" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000363492" "00362263" "1" "02404" "02404" "2021-04-18 12:52:23" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000364460" "00363232" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364547" "00363319" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364548" "00363320" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364549" "00363321" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364554" "00363326" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364555" "00363327" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364685" "00363457" "1" "00000" "00006" "2021-04-27 10:42:53" "" "" "SEQ-NG" "DNA" "" "195-gene panel" "0000374699" "00373464" "1" "00006" "00006" "2021-05-14 15:56:17" "" "" "SEQ;SEQ-NG" "DNA" "" "123-gene panel" "0000375176" "00373944" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000376521" "00375324" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel" "0000376522" "00375325" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel" "0000376608" "00375411" "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" "0000376624" "00375427" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376626" "00375429" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376627" "00375430" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000377432" "00376236" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "SSCA" "DNA" "" "" "0000377433" "00376237" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "SSCA" "DNA" "" "" "0000377434" "00376238" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "SSCA" "DNA" "" "" "0000377561" "00376358" "1" "04091" "00006" "2021-06-22 09:34:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000381042" "00379840" "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" "0000382948" "00381732" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000383508" "00382294" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383532" "00382318" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000385072" "00383847" "1" "00000" "03840" "2021-09-29 12:44:05" "" "" "SEQ" "DNA" "" "retrospective analysis" "0000385444" "00384219" "1" "00000" "03840" "2021-09-29 13:16:47" "" "" "SEQ-NG;SEQ" "DNA" "blood" "WES" "0000385445" "00384220" "1" "00000" "03840" "2021-09-29 13:16:47" "" "" "SEQ-NG;SEQ" "DNA" "blood" "WES" "0000386374" "00385145" "1" "00000" "03840" "2021-10-08 17:29:22" "" "" "SEQ-NG-I" "DNA" "" "176 genes panel" "0000386376" "00385147" "1" "00000" "03840" "2021-10-08 17:29:22" "" "" "SEQ-NG-I" "DNA" "" "176 genes panel" "0000386377" "00385148" "1" "00000" "03840" "2021-10-08 17:29:22" "" "" "SEQ-NG-I" "DNA" "" "176 genes panel" "0000387613" "00386385" "1" "00000" "03840" "2021-10-22 11:28:19" "" "" "SEQ" "DNA" "blood" "" "0000387796" "00386568" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387804" "00386576" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387908" "00386680" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387909" "00386681" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387912" "00386684" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388023" "00386795" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388058" "00386830" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388081" "00386853" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;PCRq" "DNA" "blood" "" "0000388092" "00386864" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388103" "00386875" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388109" "00386881" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388193" "00386967" "1" "02416" "02416" "2021-10-28 13:59:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388342" "00387116" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388343" "00387117" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388502" "00387276" "1" "02416" "02416" "2021-10-28 14:08:36" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388505" "00387279" "1" "02416" "02416" "2021-10-28 14:08:42" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388547" "00387322" "1" "02416" "02416" "2021-10-28 14:10:30" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000389437" "00388198" "1" "00006" "00006" "2021-11-02 18:56:14" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000390391" "00389148" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390421" "00389178" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390494" "00389251" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390635" "00389392" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000391510" "00390269" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391511" "00390270" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391512" "00390271" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391513" "00390272" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000392616" "00391374" "1" "00000" "03840" "2021-11-15 18:02:17" "" "" "SEQ-NG" "DNA" "" "retrospective case note review, targeted gene panel testing" "0000392814" "00391572" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000393902" "00392655" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000394790" "00393542" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394868" "00393620" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395204" "00393956" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "arraySNP;SEQ-NG" "DNA" "blood" "WES" "0000395598" "00394351" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis" "0000395937" "00394690" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395938" "00394691" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395939" "00394692" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395940" "00394693" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000397457" "00396216" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "arraySNP;SEQ-NG" "DNA" "" "" "0000397467" "00396226" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG" "DNA" "" "" "0000397498" "00396257" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397499" "00396258" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397523" "00396282" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397524" "00396283" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397575" "00396334" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397576" "00396335" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397577" "00396336" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397578" "00396337" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397656" "00396415" "1" "00006" "00006" "2021-12-15 14:29:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000397719" "00396476" "1" "00000" "03840" "2021-12-16 12:35:05" "" "" "SEQ-NG-I" "DNA" "blood" "panel of 254 genes implicated in retinopathies" "0000397787" "00396544" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000403699" "00402457" "1" "00000" "03840" "2022-02-06 20:14:51" "" "" "SEQ-NG-I" "DNA" "" "molecular inversion probe-based sequencing" "0000404161" "00402920" "1" "00006" "00006" "2022-02-14 14:33:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000412210" "00410946" "1" "00000" "00008" "2022-05-31 18:45:49" "" "" "SEQ-NG;SEQ" "DNA" "Peripheral blood" "" "0000412211" "00410947" "1" "00000" "00008" "2022-05-31 18:45:49" "" "" "SEQ;PCR" "DNA" "Peripheral blood" "" "0000412212" "00410948" "1" "00000" "00008" "2022-05-31 18:45:49" "" "" "SEQ-NG;SEQ" "DNA" "Peripheral blood" "Targeted genomic enrichment and massively parallel sequencing" "0000412213" "00410949" "1" "00000" "00008" "2022-05-31 18:45:49" "" "" "SEQ-NG;SEQ" "DNA" "Peripheral blood" "Targeted genomic enrichment and massively parallel sequencing" "0000412214" "00410950" "1" "00000" "00008" "2022-05-31 18:45:49" "" "" "SEQ" "DNA" "blood" "" "0000412215" "00410951" "1" "00000" "00008" "2022-05-31 18:45:49" "" "" "SEQ" "DNA" "blood" "" "0000412216" "00410952" "1" "00000" "00008" "2022-05-31 18:45:49" "" "" "SEQ" "DNA" "blood" "" "0000412217" "00410953" "1" "00000" "00008" "2022-05-31 18:45:49" "" "" "SEQ-NG;SEQ" "DNA" "Peripheral blood" "WES" "0000412218" "00410954" "1" "00000" "00008" "2022-05-31 18:45:49" "" "" "SEQ" "DNA" "Peripheral blood" "" "0000412219" "00410955" "1" "00000" "00008" "2022-05-31 18:45:49" "" "" "SEQ-NG;SEQ" "DNA" "Peripheral blood" "" "0000428264" "00426944" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000432338" "00430927" "1" "04091" "00006" "2023-01-25 13:11:03" "" "" "SEQ-NG" "DNA" "" "WGS" "0000439768" "00438286" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439795" "00438313" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439825" "00438343" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439833" "00438351" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442597" "00441112" "1" "00006" "00006" "2023-11-06 09:06:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442605" "00441120" "1" "00006" "00006" "2023-11-06 14:55:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000442625" "00441139" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448540" "00446963" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448551" "00446974" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448552" "00446975" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448708" "00447131" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448990" "00447413" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448992" "00447415" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449006" "00447429" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449143" "00447566" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449183" "00447606" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449215" "00447638" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449283" "00447706" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449764" "00448189" "1" "00006" "00006" "2024-02-22 17:47:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000462704" "00461072" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000462723" "00461091" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000466214" "00464547" "1" "04333" "04333" "2025-03-30 08:00:40" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 138 "{{screeningid}}" "{{geneid}}" "0000000079" "CDH23" "0000000079" "GPR98" "0000000079" "NHLRC1" "0000000079" "NPHS1" "0000000079" "SERPINA1" "0000002914" "GPR98" "0000016248" "GPR98" "0000016251" "GPR98" "0000016251" "KCNQ2" "0000016251" "TBC1D24" "0000016256" "GPR98" "0000016256" "GRIN2A" "0000059119" "DIAPH3" "0000059119" "GPR98" "0000059120" "GPR98" "0000059121" "GPR98" "0000144774" "EYS" "0000156241" "GPR98" "0000277487" "COL27A1" "0000300750" "ARHGEF18" "0000309614" "GPR98" "0000309615" "GPR98" "0000309929" "GPR98" "0000310076" "GPR98" "0000310077" "GPR98" "0000310078" "GPR98" "0000310079" "GPR98" "0000310080" "GPR98" "0000310081" "GPR98" "0000310700" "GPR98" "0000310703" "GPR98" "0000310706" "GPR98" "0000310707" "GPR98" "0000310712" "GPR98" "0000310716" "GPR98" "0000310739" "CDH23" "0000310739" "GPR98" "0000310751" "GPR98" "0000310754" "GPR98" "0000326718" "GPR98" "0000329157" "GPR98" "0000329218" "GPR98" "0000329249" "GPR98" "0000329313" "GPR98" "0000332846" "GPR98" "0000332847" "GPR98" "0000332925" "GPR98" "0000333658" "USH2A" "0000333659" "USH2A" "0000333667" "MYO7A" "0000333668" "MYO7A" "0000333670" "USH2A" "0000333672" "GPR98" "0000335228" "GPR98" "0000335249" "GPR98" "0000336345" "GPR98" "0000336481" "GPR98" "0000336504" "GPR98" "0000336560" "GPR98" "0000336567" "GPR98" "0000364460" "GPR98" "0000364547" "GPR98" "0000364548" "GPR98" "0000364549" "GPR98" "0000364554" "GPR98" "0000364555" "GPR98" "0000364685" "GPR98" "0000374699" "RP1L1" "0000375176" "GPR98" "0000376521" "GPR98" "0000376522" "GPR98" "0000377432" "GPR98" "0000377433" "GPR98" "0000377434" "GPR98" "0000381042" "GPR98" "0000382948" "GPR98" "0000383508" "EYS" "0000383532" "GPR98" "0000386374" "GPR98" "0000386376" "GPR98" "0000386377" "GPR98" "0000387613" "USH2A" "0000387796" "GPR98" "0000387804" "GPR98" "0000387908" "GPR98" "0000387909" "GPR98" "0000387912" "GPR98" "0000388023" "GPR98" "0000388058" "GPR98" "0000388081" "GPR98" "0000388092" "GPR98" "0000388103" "GPR98" "0000388109" "GPR98" "0000388342" "GPR98" "0000388343" "USH2A" "0000390391" "GPR98" "0000390421" "GPR98" "0000390494" "GPR98" "0000390635" "GPR98" "0000391510" "GPR98" "0000391511" "GPR98" "0000391512" "GPR98" "0000391513" "GPR98" "0000392616" "GPR98" "0000392814" "GPR98" "0000393902" "GPR98" "0000394790" "GPR98" "0000394868" "GPR98" "0000395204" "GPR98" "0000395598" "GPR98" "0000395937" "GPR98" "0000395938" "GPR98" "0000395939" "GPR98" "0000395940" "GPR98" "0000397457" "NMNAT1" "0000397467" "NMNAT1" "0000397498" "GPR98" "0000397499" "GPR98" "0000397523" "GPR98" "0000397524" "GPR98" "0000397575" "GPR98" "0000397576" "GPR98" "0000397577" "GPR98" "0000397578" "GPR98" "0000397719" "GPR98" "0000397787" "PRPF8" "0000403699" "GPR98" "0000412210" "GPR98" "0000412211" "GPR98" "0000412212" "GPR98" "0000412213" "GPR98" "0000412214" "GPR98" "0000412215" "GPR98" "0000412216" "GPR98" "0000412217" "GPR98" "0000412218" "GPR98" "0000412219" "GPR98" "0000428264" "MYO7A" ## 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 = 2488 "{{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}}" "0000001022" "0" "70" "5" "89914907" "89914907" "del" "0" "00002" "GPR98_010005" "g.89914907del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.90619090del" "" "likely pathogenic" "" "0000019543" "0" "75" "5" "89948189" "89948189" "subst" "0.00183801" "00102" "GPR98_010003" "g.89948189G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.90652372G>A" "" "likely pathogenic" "" "0000019544" "0" "75" "5" "89999552" "89999552" "subst" "0" "00102" "GPR98_010004" "g.89999552T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.90703735T>G" "" "likely pathogenic" "" "0000021287" "1" "70" "5" "89925235" "89925235" "subst" "0.00028453" "00130" "GPR98_010000" "g.89925235G>T" "" "{PMID:Neveling 2013:24123792}" "" "" "GPR98 only described for Usher, further studies needed" "Unknown" "?" "" "" "" "" "g.90629418G>T" "" "likely pathogenic" "" "0000021288" "2" "70" "5" "90012539" "90012539" "subst" "0.00028922" "00130" "GPR98_010001" "g.90012539G>A" "" "{PMID:Neveling 2013:24123792}" "" "" "GPR98 only described for Usher, further studies needed" "Unknown" "?" "" "" "" "" "g.90716722G>A" "" "likely pathogenic" "" "0000035987" "21" "35" "5" "90281186" "90281186" "subst" "0" "00681" "GPR98_010002" "g.90281186T>C" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.90985369T>C" "" "likely benign" "" "0000035992" "11" "35" "5" "89990155" "89990155" "subst" "0.00416253" "00681" "GPR98_000239" "g.89990155C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.90694338C>T" "" "likely benign" "" "0000036002" "11" "55" "5" "89948228" "89948228" "subst" "0.00127296" "00681" "GPR98_010006" "g.89948228C>G" "" "" "" "" "" "Germline" "no" "" "0" "" "" "g.90652411C>G" "" "VUS" "" "0000089916" "0" "90" "5" "89940652" "89940652" "subst" "8.33625E-6" "01551" "GPR98_000267" "g.89940652C>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.90644835C>A" "" "pathogenic" "" "0000089917" "0" "90" "5" "89949293" "89949294" "ins" "0" "01551" "GPR98_000311" "g.89949293_89949294insAT" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.90653476_90653477insAT" "" "pathogenic" "" "0000089918" "0" "50" "5" "90006848" "90006848" "subst" "0" "01551" "GPR98_010007" "g.90006848C>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.90711031C>T" "" "VUS" "" "0000089919" "0" "50" "5" "90084128" "90084128" "subst" "0" "01551" "GPR98_010008" "g.90084128G>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.90788311G>A" "" "VUS" "" "0000089920" "0" "50" "5" "90398089" "90398089" "subst" "0" "01551" "GPR98_000312" "g.90398089G>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.91102272G>A" "" "VUS" "" "0000096196" "0" "70" "5" "89948189" "89948189" "subst" "0.00183801" "00006" "GPR98_000284" "g.89948189G>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.90652372G>A" "" "likely pathogenic" "" "0000246298" "0" "10" "5" "90012465" "90012465" "subst" "0.00397629" "02330" "GPR98_010214" "g.90012465A>G" "" "" "" "ADGRV1(NM_032119.4):c.9366A>G (p.T3122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90716648A>G" "" "benign" "" "0000246299" "0" "10" "5" "90002172" "90002172" "subst" "0.00418474" "02330" "GPR98_010190" "g.90002172A>C" "" "" "" "ADGRV1(NM_032119.4):c.8691A>C (p.E2897D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90706355A>C" "" "benign" "" "0000246300" "0" "10" "5" "89969880" "89969880" "subst" "0.00459038" "02330" "GPR98_010104" "g.89969880A>G" "" "" "" "ADGRV1(NM_032119.4):c.4939A>G (p.I1647V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90674063A>G" "" "benign" "" "0000246301" "0" "50" "5" "89943483" "89943483" "subst" "0.00209338" "02330" "GPR98_010072" "g.89943483A>C" "" "" "" "ADGRV1(NM_032119.4):c.3191A>C (p.E1064A, p.(Glu1064Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90647666A>C" "" "VUS" "" "0000246305" "0" "10" "5" "90368384" "90368384" "subst" "0.00409356" "02330" "GPR98_010382" "g.90368384A>G" "" "" "" "ADGRV1(NM_032119.4):c.18273A>G (p.A6091=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91072567A>G" "" "benign" "" "0000246307" "0" "10" "5" "90136800" "90136800" "subst" "0.00367558" "02330" "GPR98_010357" "g.90136800A>G" "" "" "" "ADGRV1(NM_032119.4):c.17017A>G (p.K5673E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90840983A>G" "" "benign" "" "0000246314" "0" "10" "5" "89979912" "89979912" "subst" "3.67927E-5" "02330" "GPR98_010136" "g.89979912A>T" "" "" "" "ADGRV1(NM_032119.4):c.6174A>T (p.I2058=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90684095A>T" "" "benign" "" "0000246315" "0" "10" "5" "89925039" "89925039" "subst" "0.00218957" "02330" "GPR98_010040" "g.89925039A>C" "" "" "" "ADGRV1(NM_032119.4):c.1522A>C (p.I508L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90629222A>C" "" "benign" "" "0000246326" "0" "10" "5" "90041091" "90041091" "subst" "0.00679798" "02330" "GPR98_010255" "g.90041091A>G" "" "" "" "ADGRV1(NM_032119.4):c.10769+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90745274A>G" "" "benign" "" "0000246339" "0" "10" "5" "89933568" "89933568" "subst" "1.22495E-5" "02330" "GPR98_010054" "g.89933568A>G" "" "" "" "ADGRV1(NM_032119.4):c.2043A>G (p.G681=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90637751A>G" "" "benign" "" "0000246340" "0" "10" "5" "89947434" "89947434" "subst" "0.00264945" "02330" "GPR98_010083" "g.89947434A>G" "" "" "" "ADGRV1(NM_032119.4):c.3303A>G (p.V1101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90651617A>G" "" "benign" "" "0000246341" "0" "10" "5" "89949171" "89949171" "subst" "1.62542E-5" "02330" "GPR98_010088" "g.89949171A>G" "" "" "" "ADGRV1(NM_032119.4):c.3780A>G (p.E1260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90653354A>G" "" "benign" "" "0000246342" "0" "10" "5" "90086932" "90086932" "subst" "1.22011E-5" "02330" "GPR98_010433" "g.90086932A>G" "" "" "" "ADGRV1(NM_032119.4):c.14286A>G (p.G4762=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90791115A>G" "" "benign" "" "0000246343" "0" "10" "5" "90103513" "90103513" "subst" "2.84594E-5" "02330" "GPR98_010334" "g.90103513A>G" "" "" "" "ADGRV1(NM_032119.4):c.14931A>G (p.L4977=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90807696A>G" "" "benign" "" "0000246346" "0" "10" "5" "89948305" "89948305" "subst" "0.00250968" "02330" "GPR98_010087" "g.89948305A>G" "" "" "" "ADGRV1(NM_032119.4):c.3559A>G (p.I1187V, p.(Ile1187Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90652488A>G" "" "benign" "" "0000246352" "0" "10" "5" "90098692" "90098692" "subst" "0.00141472" "02330" "GPR98_010438" "g.90098692A>G" "" "" "" "ADGRV1(NM_032119.4):c.14654A>G (p.N4885S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90802875A>G" "" "benign" "" "0000246371" "0" "10" "5" "90020887" "90020887" "subst" "0.000839953" "02330" "GPR98_010228" "g.90020887A>C" "" "" "" "ADGRV1(NM_032119.4):c.9907-16A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90725070A>C" "" "benign" "" "0000246372" "0" "10" "5" "90459586" "90459586" "subst" "0.000815223" "02330" "GPR98_000041" "g.90459586A>G" "" "" "" "ADGRV1(NM_032119.4):c.18803-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91163769A>G" "" "benign" "" "0000246375" "0" "30" "5" "90106517" "90106517" "subst" "0.000121896" "02330" "GPR98_010444" "g.90106517A>G" "" "" "" "ADGRV1(NM_032119.4):c.15440A>G (p.D5147G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90810700A>G" "" "likely benign" "" "0000246378" "0" "30" "5" "90079671" "90079671" "subst" "8.45845E-6" "02330" "GPR98_010563" "g.90079671A>G" "" "" "" "ADGRV1(NM_032119.4):c.13450A>G (p.I4484V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90783854A>G" "" "likely benign" "" "0000246382" "0" "30" "5" "90119304" "90119304" "subst" "0" "02330" "GPR98_010345" "g.90119304A>T" "" "" "" "ADGRV1(NM_032119.4):c.16259A>T (p.Q5420L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90823487A>T" "" "likely benign" "" "0000246389" "0" "30" "5" "89939808" "89939808" "subst" "3.04179E-5" "02330" "GPR98_010065" "g.89939808A>G" "" "" "" "ADGRV1(NM_032119.4):c.2734+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90643991A>G" "" "likely benign" "" "0000246391" "0" "90" "5" "90368381" "90368381" "del" "0" "02330" "GPR98_010452" "g.90368381del" "" "" "" "ADGRV1(NM_032119.4):c.18270delA (p.A6091Hfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91072564del" "" "pathogenic" "" "0000246397" "0" "50" "5" "89999487" "89999487" "subst" "0.000495921" "02330" "GPR98_010180" "g.89999487A>G" "" "" "" "ADGRV1(NM_032119.4):c.8161A>G (p.I2721V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90703670A>G" "" "VUS" "" "0000248220" "0" "10" "5" "89990324" "89990324" "subst" "0.710299" "02325" "GPR98_010170" "g.89990324A>G" "" "" "" "ADGRV1(NM_032119.4):c.7751A>G (p.N2584S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90694507A>G" "" "benign" "" "0000248561" "0" "10" "5" "89943433" "89943433" "subst" "0.164856" "02325" "GPR98_010070" "g.89943433A>G" "" "" "" "ADGRV1(NM_032119.4):c.3141A>G (p.A1047=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90647616A>G" "" "benign" "" "0000248755" "0" "10" "5" "90107108" "90107108" "subst" "0.969653" "02325" "GPR98_010339" "g.90107108A>G" "" "" "" "ADGRV1(NM_032119.4):c.16031A>G (p.E5344G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90811291A>G" "" "benign" "" "0000248858" "0" "10" "5" "89979691" "89979691" "subst" "0.179837" "02325" "GPR98_010129" "g.89979691A>G" "" "" "" "ADGRV1(NM_032119.4):c.5953A>G (p.N1985D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90683874A>G" "" "benign" "" "0000249301" "0" "30" "5" "90041091" "90041091" "subst" "0.00679798" "02325" "GPR98_010255" "g.90041091A>G" "" "" "" "ADGRV1(NM_032119.4):c.10769+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90745274A>G" "" "likely benign" "" "0000249784" "0" "50" "5" "89985807" "89985807" "subst" "0" "02325" "GPR98_010150" "g.89985807A>T" "" "" "" "ADGRV1(NM_032119.4):c.6620A>T (p.N2207I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90689990A>T" "" "VUS" "" "0000250707" "0" "10" "5" "90041091" "90041091" "subst" "0.00679798" "02326" "GPR98_010255" "g.90041091A>G" "" "" "" "ADGRV1(NM_032119.4):c.10769+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90745274A>G" "" "benign" "" "0000250745" "0" "10" "5" "90002172" "90002172" "subst" "0.00418474" "02326" "GPR98_010190" "g.90002172A>C" "" "" "" "ADGRV1(NM_032119.4):c.8691A>C (p.E2897D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90706355A>C" "" "benign" "" "0000250746" "0" "10" "5" "89969880" "89969880" "subst" "0.00459038" "02326" "GPR98_010104" "g.89969880A>G" "" "" "" "ADGRV1(NM_032119.4):c.4939A>G (p.I1647V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90674063A>G" "" "benign" "" "0000250754" "0" "10" "5" "89948305" "89948305" "subst" "0.00250968" "02326" "GPR98_010087" "g.89948305A>G" "" "" "" "ADGRV1(NM_032119.4):c.3559A>G (p.I1187V, p.(Ile1187Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90652488A>G" "" "benign" "" "0000250787" "0" "30" "5" "89943483" "89943483" "subst" "0.00209338" "02326" "GPR98_010072" "g.89943483A>C" "" "" "" "ADGRV1(NM_032119.4):c.3191A>C (p.E1064A, p.(Glu1064Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90647666A>C" "" "likely benign" "" "0000250923" "0" "10" "5" "89990324" "89990324" "subst" "0.710299" "02326" "GPR98_010170" "g.89990324A>G" "" "" "" "ADGRV1(NM_032119.4):c.7751A>G (p.N2584S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90694507A>G" "" "benign" "" "0000251016" "0" "10" "5" "90041510" "90041510" "subst" "0.0311764" "02326" "GPR98_010261" "g.90041510A>G" "" "" "" "ADGRV1(NM_032119.4):c.10872A>G (p.Q3624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90745693A>G" "" "benign" "" "0000251125" "0" "10" "5" "90445889" "90445889" "subst" "0.0266873" "02326" "GPR98_010461" "g.90445889A>G" "" "" "" "ADGRV1(NM_032119.4):c.18475A>G (p.M6159V), GPR98(NM_032119.3):c.18475A>G (p.(Met6159Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91150072A>G" "" "benign" "" "0000251132" "0" "10" "5" "89988504" "89988504" "subst" "0.35785" "02326" "GPR98_010158" "g.89988504A>G" "" "" "" "ADGRV1(NM_032119.4):c.7034A>G (p.N2345S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90692687A>G" "" "benign" "" "0000251358" "0" "10" "5" "89981460" "89981460" "subst" "0" "02326" "GPR98_010140" "g.89981460A>T" "" "" "" "ADGRV1(NM_032119.4):c.6275-137A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90685643A>T" "" "benign" "" "0000251359" "0" "10" "5" "89989693" "89989693" "subst" "2.91006E-5" "02326" "GPR98_010162" "g.89989693A>G" "" "" "" "ADGRV1(NM_032119.4):c.7134-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90693876A>G" "" "benign" "" "0000251360" "0" "10" "5" "90004776" "90004776" "subst" "0.0275615" "02326" "GPR98_010201" "g.90004776A>C" "" "" "" "ADGRV1(NM_032119.4):c.8824+50A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90708959A>C" "" "benign" "" "0000251361" "0" "10" "5" "90006758" "90006758" "subst" "0.00406949" "02326" "GPR98_010202" "g.90006758A>G" "" "" "" "ADGRV1(NM_032119.4):c.8825-40A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90710941A>G" "" "benign" "" "0000251362" "0" "10" "5" "90008047" "90008047" "subst" "0" "02326" "GPR98_010207" "g.90008047A>G" "" "" "" "ADGRV1(NM_032119.4):c.9043-57A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90712230A>G" "" "benign" "" "0000251363" "0" "10" "5" "90085743" "90085743" "subst" "0" "02326" "GPR98_010429" "g.90085743A>G" "" "" "" "ADGRV1(NM_032119.4):c.14043+75A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90789926A>G" "" "benign" "" "0000251364" "0" "10" "5" "90107241" "90107241" "subst" "0" "02326" "GPR98_010340" "g.90107241A>G" "" "" "" "ADGRV1(NM_032119.4):c.16078+86A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90811424A>G" "" "benign" "" "0000251365" "0" "10" "5" "90261421" "90261421" "subst" "0" "02326" "GPR98_010376" "g.90261421A>G" "" "" "" "ADGRV1(NM_032119.4):c.17973+73A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90965604A>G" "" "benign" "" "0000251366" "0" "10" "5" "90281045" "90281045" "subst" "0" "02326" "GPR98_010377" "g.90281045A>G" "" "" "" "ADGRV1(NM_032119.4):c.17974-116A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90985228A>G" "" "benign" "" "0000251367" "0" "10" "5" "90368142" "90368142" "subst" "0" "02326" "GPR98_010380" "g.90368142A>T" "" "" "" "ADGRV1(NM_032119.4):c.18153-122A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91072325A>T" "" "benign" "" "0000251368" "0" "10" "5" "90368429" "90368429" "subst" "8.159E-6" "02326" "GPR98_010453" "g.90368429A>G" "" "" "" "ADGRV1(NM_032119.4):c.18310+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91072612A>G" "" "benign" "" "0000251369" "0" "10" "5" "90459586" "90459586" "subst" "0.000815223" "02326" "GPR98_010465" "g.90459586A>G" "" "" "" "ADGRV1(NM_032119.4):c.18803-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91163769A>G" "" "benign" "" "0000251729" "0" "30" "5" "89979912" "89979912" "subst" "3.67927E-5" "02326" "GPR98_010136" "g.89979912A>T" "" "" "" "ADGRV1(NM_032119.4):c.6174A>T (p.I2058=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90684095A>T" "" "likely benign" "" "0000251732" "0" "30" "5" "89925039" "89925039" "subst" "0.00218957" "02326" "GPR98_010040" "g.89925039A>C" "" "" "" "ADGRV1(NM_032119.4):c.1522A>C (p.I508L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90629222A>C" "" "likely benign" "" "0000251785" "0" "30" "5" "89923441" "89923441" "subst" "0.00239761" "02326" "GPR98_010036" "g.89923441A>G" "" "" "" "ADGRV1(NM_032119.4):c.1086A>G (p.L362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90627624A>G" "" "likely benign" "" "0000251786" "0" "30" "5" "89949651" "89949651" "subst" "0.00556048" "02326" "GPR98_010418" "g.89949651A>G" "" "" "" "ADGRV1(NM_032119.4):c.4260A>G (p.E1420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90653834A>G" "" "likely benign" "" "0000251787" "0" "30" "5" "90111521" "90111521" "subst" "0.0169905" "02326" "GPR98_010342" "g.90111521A>G" "" "" "" "ADGRV1(NM_032119.4):c.16164A>G (p.R5388=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90815704A>G" "" "likely benign" "" "0000251788" "0" "30" "5" "90368384" "90368384" "subst" "0.00409356" "02326" "GPR98_010382" "g.90368384A>G" "" "" "" "ADGRV1(NM_032119.4):c.18273A>G (p.A6091=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91072567A>G" "" "likely benign" "" "0000251853" "0" "30" "5" "90072342" "90072342" "subst" "0.000760336" "02326" "GPR98_010302" "g.90072342A>C" "" "" "" "ADGRV1(NM_032119.4):c.12476A>C (p.H4159P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90776525A>C" "" "likely benign" "" "0000251862" "0" "30" "5" "89953967" "89953967" "subst" "4.07106E-6" "02326" "GPR98_010098" "g.89953967A>G" "" "" "" "ADGRV1(NM_032119.4):c.4624A>G (p.I1542V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90658150A>G" "" "likely benign" "" "0000251865" "0" "30" "5" "89990149" "89990149" "subst" "0.00479288" "02326" "GPR98_010168" "g.89990149A>G" "" "" "" "ADGRV1(NM_032119.4):c.7576A>G (p.(Ile2526Val), p.I2526V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90694332A>G" "" "likely benign" "" "0000251866" "0" "30" "5" "89999487" "89999487" "subst" "0.000495921" "02326" "GPR98_010180" "g.89999487A>G" "" "" "" "ADGRV1(NM_032119.4):c.8161A>G (p.I2721V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90703670A>G" "" "likely benign" "" "0000251867" "0" "30" "5" "90002053" "90002053" "subst" "0.000981025" "02326" "GPR98_010188" "g.90002053A>G" "" "" "" "ADGRV1(NM_032119.4):c.8572A>G (p.I2858V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90706236A>G" "" "likely benign" "" "0000251902" "0" "30" "5" "90136800" "90136800" "subst" "0.00367558" "02326" "GPR98_010357" "g.90136800A>G" "" "" "" "ADGRV1(NM_032119.4):c.17017A>G (p.K5673E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90840983A>G" "" "likely benign" "" "0000251924" "0" "30" "5" "90020747" "90020747" "subst" "1.63445E-5" "02326" "GPR98_010420" "g.90020747A>G" "" "" "" "ADGRV1(NM_032119.4):c.9847A>G (p.M3283V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90724930A>G" "" "likely benign" "" "0000251937" "0" "30" "5" "89986778" "89986778" "subst" "4.06415E-6" "02326" "GPR98_010152" "g.89986778A>G" "" "" "" "ADGRV1(NM_032119.4):c.6871A>G (p.N2291D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90690961A>G" "" "likely benign" "" "0000251950" "0" "30" "5" "89925334" "89925334" "subst" "0.00223476" "02326" "GPR98_010045" "g.89925334A>C" "" "" "" "ADGRV1(NM_032119.4):c.1817A>C (p.N606T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90629517A>C" "" "likely benign" "" "0000251955" "0" "30" "5" "89938764" "89938764" "subst" "0.000138368" "02326" "GPR98_010417" "g.89938764A>G" "" "" "" "ADGRV1(NM_032119.4):c.2459A>G (p.N820S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90642947A>G" "" "likely benign" "" "0000251965" "0" "30" "5" "90149238" "90149238" "subst" "0" "02326" "GPR98_010362" "g.90149238A>C" "" "" "" "ADGRV1(NM_032119.4):c.17342A>C (p.Q5781P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90853421A>C" "" "likely benign" "" "0000251980" "0" "30" "5" "89947426" "89947426" "subst" "0.000596724" "02326" "GPR98_010082" "g.89947426A>G" "" "" "" "ADGRV1(NM_032119.4):c.3295A>G (p.T1099A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90651609A>G" "" "likely benign" "" "0000251993" "0" "30" "5" "89989802" "89989802" "subst" "0.00498833" "02326" "GPR98_010167" "g.89989802A>G" "" "" "" "ADGRV1(NM_032119.4):c.7229A>G (p.Y2410C), GPR98(NM_032119.3):c.7229A>G (p.(Tyr2410Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90693985A>G" "" "likely benign" "" "0000252107" "0" "30" "5" "89854646" "89854646" "subst" "0.00514563" "02326" "GPR98_010009" "g.89854646A>T" "" "" "" "ADGRV1(NM_032119.4):c.-67A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90558829A>T" "" "likely benign" "" "0000252108" "0" "30" "5" "89909989" "89909989" "del" "0" "02326" "GPR98_010012" "g.89909989del" "" "" "" "ADGRV1(NM_032119.4):c.23-663delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90614172del" "" "likely benign" "" "0000252109" "0" "30" "5" "89910091" "89910091" "subst" "0" "02326" "GPR98_010015" "g.89910091A>G" "" "" "" "ADGRV1(NM_032119.4):c.23-561A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90614274A>G" "" "likely benign" "" "0000252110" "0" "30" "5" "89910839" "89910839" "subst" "0.000363044" "02326" "GPR98_010021" "g.89910839A>G" "" "" "" "ADGRV1(NM_032119.4):c.207+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90615022A>G" "" "likely benign" "" "0000252111" "0" "30" "5" "89915021" "89915021" "subst" "0.0089646" "02326" "GPR98_010414" "g.89915021A>C" "" "" "" "ADGRV1(NM_032119.4):c.453+23A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90619204A>C" "" "likely benign" "" "0000252112" "0" "30" "5" "89922888" "89922888" "del" "0" "02326" "GPR98_010031" "g.89922888del" "" "" "" "ADGRV1(NM_032119.4):c.673-140delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90627071del" "" "likely benign" "" "0000252113" "0" "30" "5" "89933462" "89933462" "subst" "0" "02326" "GPR98_010416" "g.89933462A>G" "" "" "" "ADGRV1(NM_032119.4):c.2017-80A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90637645A>G" "" "likely benign" "" "0000252114" "0" "30" "5" "89938443" "89938443" "subst" "0.00137517" "02326" "GPR98_010061" "g.89938443A>T" "" "" "" "ADGRV1(NM_032119.4):c.2241-10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90642626A>T" "" "likely benign" "" "0000252115" "0" "30" "5" "89947600" "89947600" "subst" "0" "02326" "GPR98_010085" "g.89947600A>G" "" "" "" "ADGRV1(NM_032119.4):c.3416+53A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90651783A>G" "" "likely benign" "" "0000252116" "0" "30" "5" "89970122" "89970122" "subst" "0" "02326" "GPR98_010105" "g.89970122A>C" "" "" "" "ADGRV1(NM_032119.4):c.5110+71A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90674305A>C" "" "likely benign" "" "0000252117" "0" "30" "5" "89975202" "89975202" "subst" "0" "02326" "GPR98_010112" "g.89975202A>G" "" "" "" "ADGRV1(NM_032119.4):c.5444-164A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90679385A>G" "" "likely benign" "" "0000252118" "0" "30" "5" "89975306" "89975306" "subst" "0" "02326" "GPR98_010114" "g.89975306A>G" "" "" "" "ADGRV1(NM_032119.4):c.5444-60A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90679489A>G" "" "likely benign" "" "0000252119" "0" "30" "5" "89980103" "89980103" "subst" "0" "02326" "GPR98_010139" "g.89980103A>T" "" "" "" "ADGRV1(NM_032119.4):c.6274+91A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90684286A>T" "" "likely benign" "" "0000252120" "0" "30" "5" "90007264" "90007264" "subst" "0" "02326" "GPR98_010206" "g.90007264A>G" "" "" "" "ADGRV1(NM_032119.4):c.9042+125A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90711447A>G" "" "likely benign" "" "0000252121" "0" "30" "5" "90016686" "90016686" "subst" "0" "02326" "GPR98_010221" "g.90016686A>T" "" "" "" "ADGRV1(NM_032119.4):c.9624-66A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90720869A>T" "" "likely benign" "" "0000252122" "0" "30" "5" "90016912" "90016912" "subst" "0" "02326" "GPR98_010225" "g.90016912A>T" "" "" "" "ADGRV1(NM_032119.4):c.9748+36A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90721095A>T" "" "likely benign" "" "0000252123" "0" "30" "5" "90021169" "90021169" "subst" "0" "02326" "GPR98_010230" "g.90021169A>C" "" "" "" "ADGRV1(NM_032119.4):c.10053+120A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90725352A>C" "" "likely benign" "" "0000252124" "0" "30" "5" "90021540" "90021540" "subst" "0" "02326" "GPR98_010237" "g.90021540A>G" "" "" "" "ADGRV1(NM_032119.4):c.10161+67A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90725723A>G" "" "likely benign" "" "0000252125" "0" "30" "5" "90024394" "90024394" "subst" "0" "02326" "GPR98_010239" "g.90024394A>T" "" "" "" "ADGRV1(NM_032119.4):c.10162-92A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90728577A>T" "" "likely benign" "" "0000252126" "0" "30" "5" "90046536" "90046536" "subst" "0.00601127" "02326" "GPR98_010268" "g.90046536A>G" "" "" "" "ADGRV1(NM_032119.4):c.11121+22A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90750719A>G" "" "likely benign" "" "0000252127" "0" "30" "5" "90052477" "90052477" "subst" "0.00680825" "02326" "GPR98_010283" "g.90052477A>G" "" "" "" "ADGRV1(NM_032119.4):c.11757+30A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90756660A>G" "" "likely benign" "" "0000252128" "0" "30" "5" "90055509" "90055509" "subst" "0" "02326" "GPR98_010287" "g.90055509A>G" "" "" "" "ADGRV1(NM_032119.4):c.12120+104A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90759692A>G" "" "likely benign" "" "0000252129" "0" "30" "5" "90059406" "90059406" "subst" "0" "02326" "GPR98_010294" "g.90059406A>C" "" "" "" "ADGRV1(NM_032119.4):c.12285+120A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90763589A>C" "" "likely benign" "" "0000252130" "0" "30" "5" "90078821" "90078821" "subst" "0" "02326" "GPR98_010421" "g.90078821A>G" "" "" "" "ADGRV1(NM_032119.4):c.13232-120A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90783004A>G" "" "likely benign" "" "0000252131" "0" "30" "5" "90078934" "90078934" "subst" "0.00727519" "02326" "GPR98_010422" "g.90078934A>G" "" "" "" "ADGRV1(NM_032119.4):c.13232-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90783117A>G" "" "likely benign" "" "0000252132" "0" "30" "5" "90079171" "90079171" "subst" "0.000238745" "02326" "GPR98_010423" "g.90079171A>G" "" "" "" "ADGRV1(NM_032119.4):c.13433+29A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90783354A>G" "" "likely benign" "" "0000252133" "0" "30" "5" "90087181" "90087181" "subst" "0.00299976" "02326" "GPR98_010330" "g.90087181A>G" "" "" "" "ADGRV1(NM_032119.4):c.14517+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90791364A>G" "" "likely benign" "" "0000252134" "0" "30" "5" "90119453" "90119453" "subst" "0.00108977" "02326" "GPR98_010349" "g.90119453A>G" "" "" "" "ADGRV1(NM_032119.4):c.16368+40A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90823636A>G" "" "likely benign" "" "0000252135" "0" "30" "5" "90119470" "90119470" "subst" "0" "02326" "GPR98_010350" "g.90119470A>G" "" "" "" "ADGRV1(NM_032119.4):c.16368+57A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90823653A>G" "" "likely benign" "" "0000252136" "0" "30" "5" "90261208" "90261208" "subst" "0" "02326" "GPR98_010372" "g.90261208A>T" "" "" "" "ADGRV1(NM_032119.4):c.17857-24A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90965391A>T" "" "likely benign" "" "0000252677" "0" "50" "5" "90079091" "90079091" "subst" "0.000109834" "02326" "GPR98_010322" "g.90079091A>G" "" "" "" "ADGRV1(NM_032119.4):c.13382A>G (p.H4461R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90783274A>G" "" "VUS" "" "0000252711" "0" "50" "5" "90119307" "90119307" "subst" "0" "02326" "GPR98_010346" "g.90119307A>G" "" "" "" "ADGRV1(NM_032119.4):c.16262A>G (p.K5421R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90823490A>G" "" "VUS" "" "0000253059" "0" "10" "5" "90041091" "90041091" "subst" "0.00679798" "01943" "GPR98_010255" "g.90041091A>G" "" "" "" "ADGRV1(NM_032119.4):c.10769+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90745274A>G" "" "benign" "" "0000253349" "0" "10" "5" "90012465" "90012465" "subst" "0.00397629" "01943" "GPR98_010214" "g.90012465A>G" "" "" "" "ADGRV1(NM_032119.4):c.9366A>G (p.T3122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90716648A>G" "" "benign" "" "0000253964" "0" "30" "5" "90002172" "90002172" "subst" "0.00418474" "01943" "GPR98_010190" "g.90002172A>C" "" "" "" "ADGRV1(NM_032119.4):c.8691A>C (p.E2897D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90706355A>C" "" "likely benign" "" "0000253965" "0" "30" "5" "89969880" "89969880" "subst" "0.00459038" "01943" "GPR98_010104" "g.89969880A>G" "" "" "" "ADGRV1(NM_032119.4):c.4939A>G (p.I1647V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90674063A>G" "" "likely benign" "" "0000253973" "0" "30" "5" "89948305" "89948305" "subst" "0.00250968" "01943" "GPR98_010087" "g.89948305A>G" "" "" "" "ADGRV1(NM_032119.4):c.3559A>G (p.I1187V, p.(Ile1187Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90652488A>G" "" "likely benign" "" "0000254006" "0" "30" "5" "89943483" "89943483" "subst" "0.00209338" "01943" "GPR98_010072" "g.89943483A>C" "" "" "" "ADGRV1(NM_032119.4):c.3191A>C (p.E1064A, p.(Glu1064Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90647666A>C" "" "likely benign" "" "0000254135" "0" "30" "5" "90368384" "90368384" "subst" "0.00409356" "01943" "GPR98_010382" "g.90368384A>G" "" "" "" "ADGRV1(NM_032119.4):c.18273A>G (p.A6091=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91072567A>G" "" "likely benign" "" "0000254158" "0" "30" "5" "90136800" "90136800" "subst" "0.00367558" "01943" "GPR98_010357" "g.90136800A>G" "" "" "" "ADGRV1(NM_032119.4):c.17017A>G (p.K5673E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90840983A>G" "" "likely benign" "" "0000254428" "0" "30" "5" "89910716" "89910716" "subst" "4.12249E-6" "01943" "GPR98_010413" "g.89910716A>T" "" "" "" "ADGRV1(NM_032119.4):c.87A>T (p.G29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90614899A>T" "" "likely benign" "" "0000254454" "0" "30" "5" "89977183" "89977183" "subst" "0.000179044" "01943" "GPR98_010121" "g.89977183A>G" "" "" "" "ADGRV1(NM_032119.4):c.5576A>G (p.H1859R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90681366A>G" "" "likely benign" "" "0000254514" "0" "30" "5" "89988464" "89988464" "subst" "0.000276204" "01943" "GPR98_010157" "g.89988464A>T" "" "" "" "ADGRV1(NM_032119.4):c.6994A>T (p.I2332F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90692647A>T" "" "likely benign" "" "0000254540" "0" "30" "5" "90021438" "90021438" "subst" "0.00046239" "01943" "GPR98_010233" "g.90021438A>G" "" "" "" "ADGRV1(NM_032119.4):c.10126A>G (p.I3376V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90725621A>G" "" "likely benign" "" "0000254545" "0" "30" "5" "90041544" "90041544" "subst" "0" "01943" "GPR98_010262" "g.90041544A>G" "" "" "" "ADGRV1(NM_032119.4):c.10906A>G (p.I3636V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90745727A>G" "" "likely benign" "" "0000254683" "0" "30" "5" "89923441" "89923441" "subst" "0.00239761" "01943" "GPR98_010036" "g.89923441A>G" "" "" "" "ADGRV1(NM_032119.4):c.1086A>G (p.L362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90627624A>G" "" "likely benign" "" "0000254685" "0" "30" "5" "90046412" "90046412" "subst" "1.22112E-5" "01943" "GPR98_010267" "g.90046412A>G" "" "" "" "ADGRV1(NM_032119.4):c.11019A>G (p.L3673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90750595A>G" "" "likely benign" "" "0000254795" "0" "30" "5" "90008144" "90008144" "subst" "0.00021689" "01943" "GPR98_010209" "g.90008144A>G" "" "" "" "ADGRV1(NM_032119.4):c.9083A>G (p.N3028S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90712327A>G" "" "likely benign" "" "0000255085" "0" "30" "5" "90041477" "90041477" "subst" "8.13829E-6" "01943" "GPR98_010260" "g.90041477A>T" "" "" "" "ADGRV1(NM_032119.4):c.10839A>T (p.T3613=, p.(Thr3613=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90745660A>T" "" "likely benign" "" "0000255233" "0" "30" "5" "90074678" "90074678" "subst" "0" "01943" "GPR98_010312" "g.90074678A>T" "" "" "" "ADGRV1(NM_032119.4):c.12850-4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90778861A>T" "" "likely benign" "" "0000255891" "0" "50" "5" "90119253" "90119253" "subst" "4.06593E-6" "01943" "GPR98_010344" "g.90119253A>T" "" "" "" "ADGRV1(NM_032119.4):c.16208A>T (p.D5403V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90823436A>T" "" "VUS" "" "0000256027" "0" "50" "5" "89985746" "89985746" "subst" "0.00102145" "01943" "GPR98_010148" "g.89985746A>G" "" "" "" "ADGRV1(NM_032119.4):c.6559A>G (p.I2187V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90689929A>G" "" "VUS" "" "0000256075" "0" "50" "5" "90049535" "90049535" "subst" "4.88198E-5" "01943" "GPR98_010270" "g.90049535A>G" "" "" "" "ADGRV1(NM_032119.4):c.11266A>G (p.I3756V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90753718A>G" "" "VUS" "" "0000256396" "0" "50" "5" "90079783" "90079783" "subst" "0" "01943" "GPR98_010323" "g.90079783A>C" "" "" "" "ADGRV1(NM_032119.4):c.13562A>C (p.N4521T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90783966A>C" "" "VUS" "" "0000256441" "0" "50" "5" "89925043" "89925043" "subst" "0" "01943" "GPR98_010415" "g.89925043A>G" "" "" "" "ADGRV1(NM_032119.4):c.1526A>G (p.Q509R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90629226A>G" "" "VUS" "" "0000256540" "0" "50" "5" "89979640" "89979640" "subst" "0" "01943" "GPR98_010419" "g.89979640A>G" "" "" "" "ADGRV1(NM_032119.4):c.5902A>G (p.T1968A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90683823A>G" "" "VUS" "" "0000256640" "0" "50" "5" "89948255" "89948255" "subst" "0.000731618" "01943" "GPR98_010086" "g.89948255A>G" "" "" "" "ADGRV1(NM_032119.4):c.3509A>G (p.Y1170C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90652438A>G" "" "VUS" "" "0000257374" "0" "10" "5" "90024584" "90024584" "subst" "0.00147052" "02330" "GPR98_010240" "g.90024584C>T" "" "" "" "ADGRV1(NM_032119.4):c.10260C>T (p.F3420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90728767C>T" "" "benign" "" "0000257375" "0" "30" "5" "89923388" "89923388" "subst" "0.000869806" "02330" "GPR98_010034" "g.89923388C>A" "" "" "" "ADGRV1(NM_032119.4):c.1033C>A (p.Q345K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90627571C>A" "" "likely benign" "" "0000257376" "0" "10" "5" "90041434" "90041434" "subst" "0.000921223" "02330" "GPR98_010258" "g.90041434G>C" "" "" "" "ADGRV1(NM_032119.4):c.10796G>C (p.G3599A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90745617G>C" "" "benign" "" "0000257377" "0" "50" "5" "90041458" "90041458" "subst" "8.14041E-6" "02330" "GPR98_010259" "g.90041458T>C" "" "" "" "ADGRV1(NM_032119.4):c.10820T>C (p.V3607A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90745641T>C" "" "VUS" "" "0000257378" "0" "10" "5" "90050780" "90050780" "subst" "0.00106194" "02330" "GPR98_010272" "g.90050780G>A" "" "" "" "ADGRV1(NM_032119.4):c.11378-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90754963G>A" "" "benign" "" "0000257379" "0" "10" "5" "90050990" "90050990" "subst" "0.000516397" "02330" "GPR98_010276" "g.90050990T>C" "" "" "" "ADGRV1(NM_032119.4):c.11568T>C (p.V3856=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90755173T>C" "" "benign" "" "0000257380" "0" "30" "5" "90059213" "90059213" "subst" "0.000707334" "02330" "GPR98_010293" "g.90059213G>A" "" "" "" "ADGRV1(NM_032119.4):c.12212G>A (p.R4071Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90763396G>A" "" "likely benign" "" "0000257381" "0" "10" "5" "90072399" "90072399" "subst" "0.000459458" "02330" "GPR98_010303" "g.90072399G>T" "" "" "" "ADGRV1(NM_032119.4):c.12527+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90776582G>T" "" "benign" "" "0000257382" "0" "50" "5" "90077350" "90077350" "subst" "8.21423E-5" "02330" "GPR98_010321" "g.90077350G>A" "" "" "" "ADGRV1(NM_032119.4):c.13186G>A (p.A4396T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90781533G>A" "" "VUS" "" "0000257383" "0" "10" "5" "90083980" "90083980" "subst" "0" "02330" "GPR98_010325" "g.90083980T>C" "" "" "" "ADGRV1(NM_032119.4):c.13746T>C (p.F4582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90788163T>C" "" "benign" "" "0000257384" "0" "90" "5" "90085522" "90085522" "subst" "0" "02330" "GPR98_010326" "g.90085522C>T" "" "" "" "ADGRV1(NM_032119.4):c.13897C>T (p.Q4633*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90789705C>T" "" "pathogenic" "" "0000257385" "0" "50" "5" "90086825" "90086825" "subst" "0" "02330" "GPR98_010432" "g.90086825G>C" "" "" "" "ADGRV1(NM_032119.4):c.14179G>C (p.E4727Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90791008G>C" "" "VUS" "" "0000257386" "0" "30" "5" "90086966" "90086966" "subst" "2.43994E-5" "02330" "GPR98_010329" "g.90086966C>T" "" "" "" "ADGRV1(NM_032119.4):c.14320C>T (p.L4774F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90791149C>T" "" "likely benign" "" "0000257387" "0" "10" "5" "90087078" "90087078" "subst" "0.00025668" "02330" "GPR98_010436" "g.90087078C>A" "" "" "" "ADGRV1(NM_032119.4):c.14432C>A (p.P4811Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90791261C>A" "" "benign" "" "0000257388" "0" "50" "5" "90124864" "90124864" "subst" "0.00020329" "02330" "GPR98_010353" "g.90124864G>A" "" "" "" "ADGRV1(NM_032119.4):c.16472G>A (p.S5491N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90829047G>A" "" "VUS" "" "0000257389" "0" "10" "5" "89925293" "89925293" "subst" "0.0015093" "02330" "GPR98_010043" "g.89925293C>A" "" "" "" "ADGRV1(NM_032119.4):c.1776C>A (p.V592=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90629476C>A" "" "benign" "" "0000257390" "0" "10" "5" "90159685" "90159685" "subst" "0.0026955" "02330" "GPR98_010371" "g.90159685G>A" "" "" "" "ADGRV1(NM_032119.4):c.17856+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90863868G>A" "" "benign" "" "0000257391" "0" "10" "5" "90368320" "90368320" "subst" "8.12942E-6" "02330" "GPR98_010381" "g.90368320C>T" "" "" "" "ADGRV1(NM_032119.4):c.18209C>T (p.T6070M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91072503C>T" "" "benign" "" "0000257392" "0" "30" "5" "89925354" "89925354" "subst" "0.000836638" "02330" "GPR98_010046" "g.89925354C>A" "" "" "" "ADGRV1(NM_032119.4):c.1837C>A (p.Q613K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90629537C>A" "" "likely benign" "" "0000257394" "0" "90" "5" "89931044" "89931045" "del" "0" "02330" "GPR98_010049" "g.89931044_89931045del" "" "" "" "ADGRV1(NM_032119.4):c.1953_1954delAA (p.E651Dfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90635227_90635228del" "" "pathogenic" "" "0000257395" "0" "50" "5" "89938473" "89938473" "subst" "0.00015054" "02330" "GPR98_010062" "g.89938473T>C" "" "" "" "ADGRV1(NM_032119.4):c.2261T>C (p.V754A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90642656T>C" "" "VUS" "" "0000257396" "0" "10" "5" "89910639" "89910639" "subst" "8.62084E-6" "02330" "GPR98_010020" "g.89910639C>G" "" "" "" "ADGRV1(NM_032119.4):c.23-13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90614822C>G" "" "benign" "" "0000257397" "0" "10" "5" "89940694" "89940694" "subst" "0" "02330" "GPR98_010069" "g.89940694T>C" "" "" "" "ADGRV1(NM_032119.4):c.2898+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90644877T>C" "" "benign" "" "0000257398" "0" "50" "5" "89943443" "89943443" "subst" "0.00208562" "02330" "GPR98_010071" "g.89943443G>T" "" "" "" "ADGRV1(NM_032119.4):c.3151G>T (p.D1051Y, p.(Asp1051Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90647626G>T" "" "VUS" "" "0000257399" "0" "50" "5" "89943504" "89943504" "subst" "2.8453E-5" "02330" "GPR98_010074" "g.89943504G>A" "" "" "" "ADGRV1(NM_032119.4):c.3212G>A (p.S1071N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90647687G>A" "" "VUS" "" "0000257400" "0" "10" "5" "89948228" "89948228" "subst" "0.00127296" "02330" "GPR98_010006" "g.89948228C>G" "" "" "" "ADGRV1(NM_032119.4):c.3482C>G (p.S1161C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90652411C>G" "" "benign" "" "0000257401" "0" "10" "5" "89949276" "89949276" "subst" "8.13054E-6" "02330" "GPR98_010090" "g.89949276T>G" "" "" "" "ADGRV1(NM_032119.4):c.3885T>G (p.G1295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90653459T>G" "" "benign" "" "0000257402" "0" "90" "5" "89949499" "89949499" "subst" "0" "02330" "GPR98_010092" "g.89949499T>G" "" "" "" "ADGRV1(NM_032119.4):c.4108T>G (p.F1370V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90653682T>G" "" "pathogenic" "" "0000257403" "0" "30" "5" "89949519" "89949519" "subst" "0.000389587" "02330" "GPR98_010093" "g.89949519C>T" "" "" "" "ADGRV1(NM_032119.4):c.4128C>T (p.D1376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90653702C>T" "" "likely benign" "" "0000257404" "0" "30" "5" "89949605" "89949605" "subst" "0.00115148" "02330" "GPR98_010094" "g.89949605C>T" "" "" "" "ADGRV1(NM_032119.4):c.4214C>T (p.S1405F, p.(Ser1405Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90653788C>T" "" "likely benign" "" "0000257405" "0" "50" "5" "89954009" "89954009" "subst" "0.000645707" "02330" "GPR98_010100" "g.89954009G>A" "" "" "" "ADGRV1(NM_032119.4):c.4666G>A (p.E1556K, p.(Glu1556Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90658192G>A" "" "VUS" "" "0000257406" "0" "90" "5" "89954009" "89954009" "subst" "0" "02330" "GPR98_010101" "g.89954009G>T" "" "" "" "ADGRV1(NM_032119.4):c.4666G>T (p.E1556*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90658192G>T" "" "pathogenic" "" "0000257407" "0" "10" "5" "89971170" "89971170" "subst" "0.000849614" "02330" "GPR98_010109" "g.89971170T>C" "" "" "" "ADGRV1(NM_032119.4):c.5221T>C (p.L1741=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90675353T>C" "" "benign" "" "0000257409" "0" "10" "5" "89979568" "89979568" "subst" "0.00428387" "02330" "GPR98_010127" "g.89979568G>A" "" "" "" "ADGRV1(NM_032119.4):c.5830G>A (p.D1944N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90683751G>A" "" "benign" "" "0000257410" "0" "50" "5" "89979824" "89979824" "subst" "0.000150632" "02330" "GPR98_010132" "g.89979824C>T" "" "" "" "ADGRV1(NM_032119.4):c.6086C>T (p.P2029L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90684007C>T" "" "VUS" "" "0000257411" "0" "10" "5" "89979871" "89979871" "subst" "0.00433146" "02330" "GPR98_010134" "g.89979871G>A" "" "" "" "ADGRV1(NM_032119.4):c.6133G>A (p.G2045R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90684054G>A" "" "benign" "" "0000257412" "0" "10" "5" "89979925" "89979925" "subst" "0.000916793" "02330" "GPR98_010137" "g.89979925T>C" "" "" "" "ADGRV1(NM_032119.4):c.6187T>C (p.L2063=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90684108T>C" "" "benign" "" "0000257413" "0" "10" "5" "89981640" "89981640" "subst" "0.00385984" "02330" "GPR98_010145" "g.89981640G>A" "" "" "" "ADGRV1(NM_032119.4):c.6318G>A (p.A2106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90685823G>A" "" "benign" "" "0000257414" "0" "10" "5" "89981705" "89981705" "subst" "0.000844464" "02330" "GPR98_010146" "g.89981705G>A" "" "" "" "ADGRV1(NM_032119.4):c.6383G>A (p.R2128Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90685888G>A" "" "benign" "" "0000257415" "0" "10" "5" "89985795" "89985795" "subst" "0.00257259" "02330" "GPR98_010149" "g.89985795T>C" "" "" "" "ADGRV1(NM_032119.4):c.6608T>C (p.V2203A, p.(Val2203Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90689978T>C" "" "benign" "" "0000257416" "0" "10" "5" "89986871" "89986871" "subst" "0.000370075" "02330" "GPR98_010153" "g.89986871G>A" "" "" "" "ADGRV1(NM_032119.4):c.6951+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90691054G>A" "" "benign" "" "0000257417" "0" "10" "5" "89988445" "89988445" "subst" "0.000294493" "02330" "GPR98_010156" "g.89988445T>C" "" "" "" "ADGRV1(NM_032119.4):c.6975T>C (p.D2325=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90692628T>C" "" "benign" "" "0000257418" "0" "10" "5" "89990155" "89990155" "subst" "0.00416253" "02330" "GPR98_000239" "g.89990155C>T" "" "" "" "ADGRV1(NM_032119.4):c.7582C>T (p.P2528S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90694338C>T" "" "benign" "" "0000257419" "0" "50" "5" "89990308" "89990308" "subst" "4.06507E-5" "02330" "GPR98_010169" "g.89990308G>A" "" "" "" "ADGRV1(NM_032119.4):c.7735G>A (p.V2579M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90694491G>A" "" "VUS" "" "0000257420" "0" "10" "5" "90001320" "90001320" "subst" "0" "02330" "GPR98_010184" "g.90001320T>C" "" "" "" "ADGRV1(NM_032119.4):c.8490T>C (p.L2830=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90705503T>C" "" "benign" "" "0000257421" "0" "10" "5" "90002232" "90002232" "dup" "0" "02330" "GPR98_010192" "g.90002232dup" "" "" "" "ADGRV1(NM_032119.4):c.8730+21dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90706415dup" "" "benign" "" "0000257422" "0" "10" "5" "90006779" "90006779" "subst" "0.000137173" "02330" "GPR98_010203" "g.90006779T>C" "" "" "" "ADGRV1(NM_032119.4):c.8825-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90710962T>C" "" "benign" "" "0000257423" "0" "10" "5" "90012312" "90012312" "subst" "0.0025666" "02330" "GPR98_010212" "g.90012312C>T" "" "" "" "ADGRV1(NM_032119.4):c.9213C>T (p.D3071=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90716495C>T" "" "benign" "" "0000257424" "0" "50" "5" "90015880" "90015880" "subst" "0" "02330" "GPR98_010218" "g.90015880G>A" "" "" "" "ADGRV1(NM_032119.4):c.9463G>A (p.A3155T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90720063G>A" "" "VUS" "" "0000258730" "0" "10" "5" "89979871" "89979871" "subst" "0.00433146" "02325" "GPR98_010134" "g.89979871G>A" "" "" "" "ADGRV1(NM_032119.4):c.6133G>A (p.G2045R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90684054G>A" "" "benign" "" "0000258963" "0" "10" "5" "90024735" "90024735" "subst" "0.750047" "02325" "GPR98_010243" "g.90024735G>A" "" "" "" "ADGRV1(NM_032119.4):c.10411G>A (p.E3471K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90728918G>A" "" "benign" "" "0000258964" "0" "10" "5" "90040890" "90040890" "subst" "0.0232014" "02325" "GPR98_010253" "g.90040890T>C" "" "" "" "ADGRV1(NM_032119.4):c.10577T>C (p.M3526T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90745073T>C" "" "benign" "" "0000258965" "0" "10" "5" "90052268" "90052268" "dup" "0" "02325" "GPR98_010280" "g.90052268dup" "" "" "" "ADGRV1(NM_032119.4):c.11581-2delAinsCA, ADGRV1(NM_032119.4):c.11581-3dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90756451dup" "" "benign" "" "0000258966" "0" "10" "5" "90119324" "90119324" "subst" "0.99305" "02325" "GPR98_010347" "g.90119324G>A" "" "" "" "ADGRV1(NM_032119.4):c.16279G>A (p.V5427M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90823507G>A" "" "benign" "" "0000258968" "0" "10" "5" "90449031" "90449031" "subst" "0.92516" "02325" "GPR98_010411" "g.90449031T>C" "" "" "" "ADGRV1(NM_032119.4):c.18625-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91153214T>C" "" "benign" "" "0000258969" "0" "10" "5" "90449154" "90449154" "subst" "0.117534" "02325" "GPR98_010387" "g.90449154G>A" "" "" "" "ADGRV1(NM_032119.4):c.18741G>A (p.G6247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91153337G>A" "" "benign" "" "0000258970" "0" "10" "5" "89938434" "89938434" "subst" "0.187379" "02325" "GPR98_010060" "g.89938434G>T" "" "" "" "ADGRV1(NM_032119.4):c.2241-19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90642617G>T" "" "benign" "" "0000258971" "0" "10" "5" "89938587" "89938587" "subst" "0.732367" "02325" "GPR98_010063" "g.89938587C>T" "" "" "" "ADGRV1(NM_032119.4):c.2367+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90642770C>T" "" "benign" "" "0000258972" "0" "10" "5" "89938869" "89938869" "subst" "0.00595014" "02325" "GPR98_010064" "g.89938869T>A" "" "" "" "ADGRV1(NM_032119.4):c.2553+11T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90643052T>A" "" "benign" "" "0000258973" "0" "10" "5" "89943571" "89943571" "subst" "0.711032" "02325" "GPR98_010077" "g.89943571G>T" "" "" "" "ADGRV1(NM_032119.4):c.3279G>T (p.L1093F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90647754G>T" "" "benign" "" "0000258974" "0" "10" "5" "89979589" "89979589" "subst" "0.709158" "02325" "GPR98_010128" "g.89979589G>A" "" "" "" "ADGRV1(NM_032119.4):c.5851G>A (p.V1951I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90683772G>A" "" "benign" "" "0000258975" "0" "10" "5" "89979750" "89979750" "subst" "0.197842" "02325" "GPR98_010131" "g.89979750G>T" "" "" "" "ADGRV1(NM_032119.4):c.6012G>T (p.L2004F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90683933G>T" "" "benign" "" "0000258976" "0" "10" "5" "89989752" "89989752" "subst" "0.00836268" "02325" "GPR98_010165" "g.89989752C>T" "" "" "" "ADGRV1(NM_032119.4):c.7179C>T (p.D2393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90693935C>T" "" "benign" "" "0000258977" "0" "10" "5" "90001368" "90001368" "subst" "0.179303" "02325" "GPR98_010185" "g.90001368T>G" "" "" "" "ADGRV1(NM_032119.4):c.8538T>G (p.L2846=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90705551T>G" "" "benign" "" "0000258978" "0" "10" "5" "90016871" "90016871" "subst" "0.165563" "02325" "GPR98_010224" "g.90016871G>A" "" "" "" "ADGRV1(NM_032119.4):c.9743G>A (p.G3248D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90721054G>A" "" "benign" "" "0000259312" "0" "30" "5" "90159685" "90159685" "subst" "0.0026955" "02325" "GPR98_010371" "g.90159685G>A" "" "" "" "ADGRV1(NM_032119.4):c.17856+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90863868G>A" "" "likely benign" "" "0000259313" "0" "30" "5" "89971170" "89971170" "subst" "0.000849614" "02325" "GPR98_010109" "g.89971170T>C" "" "" "" "ADGRV1(NM_032119.4):c.5221T>C (p.L1741=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90675353T>C" "" "likely benign" "" "0000259314" "0" "30" "5" "89990155" "89990155" "subst" "0.00416253" "02325" "GPR98_000239" "g.89990155C>T" "" "" "" "ADGRV1(NM_032119.4):c.7582C>T (p.P2528S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90694338C>T" "" "likely benign" "" "0000259315" "0" "30" "5" "90012312" "90012312" "subst" "0.0025666" "02325" "GPR98_010212" "g.90012312C>T" "" "" "" "ADGRV1(NM_032119.4):c.9213C>T (p.D3071=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90716495C>T" "" "likely benign" "" "0000259430" "0" "30" "5" "90041574" "90041574" "subst" "0.00453207" "02325" "GPR98_010263" "g.90041574T>C" "" "" "" "ADGRV1(NM_032119.4):c.10936T>C (p.S3646P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90745757T>C" "" "likely benign" "" "0000259431" "0" "30" "5" "90086955" "90086955" "subst" "0.00338819" "02325" "GPR98_010434" "g.90086955G>A" "" "" "" "ADGRV1(NM_032119.4):c.14309G>A (p.R4770H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90791138G>A" "" "likely benign" "" "0000259432" "0" "30" "5" "90459675" "90459675" "subst" "0.000158182" "02325" "GPR98_010389" "g.90459675C>T" "" "" "" "ADGRV1(NM_032119.4):c.18879C>T (p.I6293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91163858C>T" "" "likely benign" "" "0000259433" "0" "30" "5" "89979523" "89979523" "subst" "0.000687528" "02325" "GPR98_010126" "g.89979523G>T" "" "" "" "ADGRV1(NM_032119.4):c.5785G>T (p.A1929S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90683706G>T" "" "likely benign" "" "0000259434" "0" "30" "5" "89992921" "89992921" "subst" "2.03452E-5" "02325" "GPR98_010179" "g.89992921G>C" "" "" "" "ADGRV1(NM_032119.4):c.8113G>C (p.V2705L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90697104G>C" "" "likely benign" "" "0000259634" "0" "50" "5" "90101158" "90101158" "subst" "3.25298E-5" "02325" "GPR98_010439" "g.90101158G>T" "" "" "" "ADGRV1(NM_032119.4):c.14719G>T (p.V4907F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90805341G>T" "" "VUS" "" "0000260615" "0" "30" "5" "90021333" "90021333" "subst" "0.002282" "02326" "GPR98_010231" "g.90021333C>T" "" "" "" "ADGRV1(NM_032119.4):c.10054-33C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90725516C>T" "" "likely benign" "" "0000260616" "0" "30" "5" "90025380" "90025380" "subst" "0" "02326" "GPR98_010246" "g.90025380T>A" "" "" "" "ADGRV1(NM_032119.4):c.10427-79T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90729563T>A" "" "likely benign" "" "0000260617" "0" "30" "5" "90050812" "90050812" "subst" "2.44437E-5" "02326" "GPR98_010273" "g.90050812C>T" "" "" "" "ADGRV1(NM_032119.4):c.11390C>T (p.T3797I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90754995C>T" "" "likely benign" "" "0000260618" "0" "30" "5" "90070066" "90070066" "subst" "0.000281226" "02326" "GPR98_010296" "g.90070066C>T" "" "" "" "ADGRV1(NM_032119.4):c.12349C>T (p.R4117C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90774249C>T" "" "likely benign" "" "0000260619" "0" "30" "5" "90073897" "90073897" "subst" "2.01407E-5" "02326" "GPR98_010307" "g.90073897T>C" "" "" "" "ADGRV1(NM_032119.4):c.12666+37T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90778080T>C" "" "likely benign" "" "0000260620" "0" "30" "5" "90074966" "90074969" "del" "0" "02326" "GPR98_010317" "g.90074966_90074969del" "" "" "" "ADGRV1(NM_032119.4):c.13082+52_13082+55delGAGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90779149_90779152del" "" "likely benign" "" "0000260621" "0" "30" "5" "90074966" "90074966" "subst" "0" "02326" "GPR98_010318" "g.90074966G>A" "" "" "" "ADGRV1(NM_032119.4):c.13082+52G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90779149G>A" "" "likely benign" "" "0000260622" "0" "30" "5" "90079717" "90079717" "subst" "0.000103037" "02326" "GPR98_010424" "g.90079717G>A" "" "" "" "ADGRV1(NM_032119.4):c.13496G>A (p.R4499H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90783900G>A" "" "likely benign" "" "0000260623" "0" "30" "5" "90106246" "90106246" "subst" "0.000573553" "02326" "GPR98_010443" "g.90106246C>T" "" "" "" "ADGRV1(NM_032119.4):c.15169C>T (p.P5057S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90810429C>T" "" "likely benign" "" "0000260624" "0" "30" "5" "90111600" "90111600" "subst" "0.000451331" "02326" "GPR98_010450" "g.90111600G>A" "" "" "" "ADGRV1(NM_032119.4):c.16196+47G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90815783G>A" "" "likely benign" "" "0000260625" "0" "30" "5" "90119211" "90119211" "subst" "0" "02326" "GPR98_010343" "g.90119211G>T" "" "" "" "ADGRV1(NM_032119.4):c.16197-31G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90823394G>T" "" "likely benign" "" "0000260626" "0" "10" "5" "90136732" "90136732" "subst" "0.00106674" "02326" "GPR98_010356" "g.90136732C>G" "" "" "" "ADGRV1(NM_032119.4):c.16949C>G (p.T5650S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90840915C>G" "" "benign" "" "0000260627" "0" "30" "5" "90281078" "90281078" "subst" "0" "02326" "GPR98_010378" "g.90281078G>A" "" "" "" "ADGRV1(NM_032119.4):c.17974-83G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90985261G>A" "" "likely benign" "" "0000260628" "0" "30" "5" "90448993" "90448993" "subst" "0.00025086" "02326" "GPR98_010463" "g.90448993C>G" "" "" "" "ADGRV1(NM_032119.4):c.18625-45C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91153176C>G" "" "likely benign" "" "0000260629" "0" "30" "5" "89910522" "89910522" "subst" "0" "02326" "GPR98_010019" "g.89910522G>A" "" "" "" "ADGRV1(NM_032119.4):c.23-130G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90614705G>A" "" "likely benign" "" "0000260630" "0" "30" "5" "89940528" "89940528" "subst" "0.000219704" "02326" "GPR98_010067" "g.89940528T>C" "" "" "" "ADGRV1(NM_032119.4):c.2740T>C (p.Y914H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90644711T>C" "" "likely benign" "" "0000260631" "0" "10" "5" "89943571" "89943571" "subst" "0.711032" "02326" "GPR98_010077" "g.89943571G>T" "" "" "" "ADGRV1(NM_032119.4):c.3279G>T (p.L1093F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90647754G>T" "" "benign" "" "0000260632" "0" "30" "5" "89971231" "89971231" "subst" "0.00017506" "02326" "GPR98_010110" "g.89971231C>G" "" "" "" "ADGRV1(NM_032119.4):c.5282C>G (p.S1761C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90675414C>G" "" "likely benign" "" "0000260633" "0" "10" "5" "89979518" "89979518" "subst" "0.0714855" "02326" "GPR98_010124" "g.89979518C>T" "" "" "" "ADGRV1(NM_032119.4):c.5780C>T (p.T1927M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90683701C>T" "" "benign" "" "0000260634" "0" "30" "5" "89979523" "89979523" "subst" "0.000687528" "02326" "GPR98_010126" "g.89979523G>T" "" "" "" "ADGRV1(NM_032119.4):c.5785G>T (p.A1929S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90683706G>T" "" "likely benign" "" "0000260635" "0" "10" "5" "89979589" "89979589" "subst" "0.709158" "02326" "GPR98_010128" "g.89979589G>A" "" "" "" "ADGRV1(NM_032119.4):c.5851G>A (p.V1951I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90683772G>A" "" "benign" "" "0000260636" "0" "30" "5" "89979882" "89979882" "subst" "0" "02326" "GPR98_010135" "g.89979882T>C" "" "" "" "ADGRV1(NM_032119.4):c.6144T>C (p.L2048=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90684065T>C" "" "likely benign" "" "0000260637" "0" "10" "5" "89988412" "89988412" "subst" "0.347653" "02326" "GPR98_010155" "g.89988412G>A" "" "" "" "ADGRV1(NM_032119.4):c.6952-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90692595G>A" "" "benign" "" "0000260638" "0" "30" "5" "89992908" "89992908" "subst" "2.44039E-5" "02326" "GPR98_010178" "g.89992908T>C" "" "" "" "ADGRV1(NM_032119.4):c.8100T>C (p.N2700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90697091T>C" "" "likely benign" "" "0000260639" "0" "10" "5" "90002035" "90002035" "subst" "0.00740226" "02326" "GPR98_010187" "g.90002035C>T" "" "" "" "ADGRV1(NM_032119.4):c.8567-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90706218C>T" "" "benign" "" "0000260640" "0" "30" "5" "90004681" "90004681" "subst" "5.69305E-5" "02326" "GPR98_010198" "g.90004681G>A" "" "" "" "ADGRV1(NM_032119.4):c.8779G>A (p.V2927I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90708864G>A" "" "likely benign" "" "0000260641" "0" "30" "5" "90006953" "90006953" "subst" "0.000201818" "02326" "GPR98_010205" "g.90006953G>A" "" "" "" "ADGRV1(NM_032119.4):c.8904-48G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90711136G>A" "" "likely benign" "" "0000260642" "0" "10" "5" "90012379" "90012379" "subst" "0.0681041" "02326" "GPR98_010213" "g.90012379G>A" "" "" "" "ADGRV1(NM_032119.4):c.9280G>A (p.V3094I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90716562G>A" "" "benign" "" "0000262010" "0" "30" "5" "90021461" "90021461" "subst" "0.000523479" "01943" "GPR98_010234" "g.90021461C>T" "" "" "" "ADGRV1(NM_032119.4):c.10149C>T (p.S3383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90725644C>T" "" "likely benign" "" "0000262011" "0" "30" "5" "90024584" "90024584" "subst" "0.00147052" "01943" "GPR98_010240" "g.90024584C>T" "" "" "" "ADGRV1(NM_032119.4):c.10260C>T (p.F3420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90728767C>T" "" "likely benign" "" "0000262012" "0" "30" "5" "90024590" "90024590" "subst" "1.62497E-5" "01943" "GPR98_010241" "g.90024590C>G" "" "" "" "ADGRV1(NM_032119.4):c.10266C>G (p.A3422=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90728773C>G" "" "likely benign" "" "0000262013" "0" "30" "5" "90024663" "90024663" "subst" "0.00138612" "01943" "GPR98_010242" "g.90024663G>A" "" "" "" "ADGRV1(NM_032119.4):c.10339G>A (p.E3447K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90728846G>A" "" "likely benign" "" "0000262014" "0" "30" "5" "89923411" "89923411" "subst" "0.000260078" "01943" "GPR98_010035" "g.89923411G>A" "" "" "" "ADGRV1(NM_032119.4):c.1056G>A (p.P352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90627594G>A" "" "likely benign" "" "0000262015" "0" "30" "5" "89923486" "89923486" "subst" "0.000630051" "01943" "GPR98_010037" "g.89923486T>G" "" "" "" "ADGRV1(NM_032119.4):c.1131T>G (p.S377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90627669T>G" "" "likely benign" "" "0000262017" "0" "30" "5" "90073785" "90073785" "subst" "4.55585E-5" "01943" "GPR98_010304" "g.90073785C>T" "" "" "" "ADGRV1(NM_032119.4):c.12591C>T (p.S4197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90777968C>T" "" "likely benign" "" "0000262018" "0" "50" "5" "90073792" "90073792" "subst" "0" "01943" "GPR98_010306" "g.90073792G>A" "" "" "" "ADGRV1(NM_032119.4):c.12598G>A (p.E4200K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90777975G>A" "" "VUS" "" "0000262019" "0" "30" "5" "89924637" "89924637" "subst" "4.89221E-5" "01943" "GPR98_010038" "g.89924637C>T" "" "" "" "ADGRV1(NM_032119.4):c.1497C>T (p.S499=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90628820C>T" "" "likely benign" "" "0000262020" "0" "30" "5" "90136482" "90136482" "subst" "5.688E-5" "01943" "GPR98_010355" "g.90136482G>A" "" "" "" "ADGRV1(NM_032119.4):c.16699G>A (p.V5567I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90840665G>A" "" "likely benign" "" "0000262021" "0" "30" "5" "89925293" "89925293" "subst" "0.0015093" "01943" "GPR98_010043" "g.89925293C>A" "" "" "" "ADGRV1(NM_032119.4):c.1776C>A (p.V592=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90629476C>A" "" "likely benign" "" "0000262022" "0" "30" "5" "90261255" "90261255" "subst" "4.06326E-6" "01943" "GPR98_010375" "g.90261255C>T" "" "" "" "ADGRV1(NM_032119.4):c.17880C>T (p.Y5960=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90965438C>T" "" "likely benign" "" "0000262023" "0" "30" "5" "90445843" "90445843" "subst" "0" "01943" "GPR98_010459" "g.90445843G>T" "" "" "" "ADGRV1(NM_032119.4):c.18433-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91150026G>T" "" "likely benign" "" "0000262024" "0" "30" "5" "90445930" "90445930" "subst" "5.02023E-6" "01943" "GPR98_010462" "g.90445930T>C" "" "" "" "ADGRV1(NM_032119.4):c.18516T>C (p.N6172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91150113T>C" "" "likely benign" "" "0000262025" "0" "30" "5" "90459690" "90459690" "subst" "0" "01943" "GPR98_010466" "g.90459690G>A" "" "" "" "ADGRV1(NM_032119.4):c.18894G>A (p.R6298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91163873G>A" "" "likely benign" "" "0000262026" "0" "30" "5" "89943538" "89943538" "subst" "3.25362E-5" "01943" "GPR98_010075" "g.89943538G>A" "" "" "" "ADGRV1(NM_032119.4):c.3246G>A (p.P1082=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90647721G>A" "" "likely benign" "" "0000262027" "0" "30" "5" "89943547" "89943547" "subst" "0.00142756" "01943" "GPR98_010076" "g.89943547T>C" "" "" "" "ADGRV1(NM_032119.4):c.3255T>C (p.D1085=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90647730T>C" "" "likely benign" "" "0000262028" "0" "10" "5" "89947469" "89947469" "subst" "1.22347E-5" "01943" "GPR98_010084" "g.89947469C>A" "" "" "" "ADGRV1(NM_032119.4):c.3338C>A (p.A1113D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90651652C>A" "" "benign" "" "0000262029" "0" "30" "5" "89949238" "89949238" "subst" "0" "01943" "GPR98_010089" "g.89949238C>T" "" "" "" "ADGRV1(NM_032119.4):c.3847C>T (p.L1283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90653421C>T" "" "likely benign" "" "0000262030" "0" "30" "5" "89918437" "89918437" "subst" "0" "01943" "GPR98_010029" "g.89918437G>A" "" "" "" "ADGRV1(NM_032119.4):c.477G>A (p.E159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90622620G>A" "" "likely benign" "" "0000262031" "0" "30" "5" "89968474" "89968474" "subst" "0.000930546" "01943" "GPR98_010103" "g.89968474T>C" "" "" "" "ADGRV1(NM_032119.4):c.4864T>C (p.Y1622H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90672657T>C" "" "likely benign" "" "0000262032" "0" "30" "5" "89971170" "89971170" "subst" "0.000849614" "01943" "GPR98_010109" "g.89971170T>C" "" "" "" "ADGRV1(NM_032119.4):c.5221T>C (p.L1741=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90675353T>C" "" "likely benign" "" "0000262033" "0" "30" "5" "89979925" "89979925" "subst" "0.000916793" "01943" "GPR98_010137" "g.89979925T>C" "" "" "" "ADGRV1(NM_032119.4):c.6187T>C (p.L2063=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90684108T>C" "" "likely benign" "" "0000262034" "0" "50" "5" "89989708" "89989708" "subst" "1.56578E-5" "01943" "GPR98_010163" "g.89989708G>C" "" "" "" "ADGRV1(NM_032119.4):c.7135G>C (p.G2379R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90693891G>C" "" "VUS" "" "0000262035" "0" "30" "5" "89989752" "89989752" "subst" "0.00836268" "01943" "GPR98_010165" "g.89989752C>T" "" "" "" "ADGRV1(NM_032119.4):c.7179C>T (p.D2393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90693935C>T" "" "likely benign" "" "0000262036" "0" "30" "5" "89990379" "89990379" "subst" "0.000215512" "01943" "GPR98_010171" "g.89990379C>G" "" "" "" "ADGRV1(NM_032119.4):c.7806C>G (p.P2602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90694562C>G" "" "likely benign" "" "0000262038" "0" "50" "5" "90004717" "90004717" "subst" "0.000325518" "01943" "GPR98_010199" "g.90004717C>T" "" "" "" "ADGRV1(NM_032119.4):c.8815C>T (p.P2939S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90708900C>T" "" "VUS" "" "0000262039" "0" "30" "5" "90012312" "90012312" "subst" "0.0025666" "01943" "GPR98_010212" "g.90012312C>T" "" "" "" "ADGRV1(NM_032119.4):c.9213C>T (p.D3071=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90716495C>T" "" "likely benign" "" "0000262040" "0" "30" "5" "90012543" "90012543" "subst" "8.15056E-6" "01943" "GPR98_010215" "g.90012543C>T" "" "" "" "ADGRV1(NM_032119.4):c.9444C>T (p.F3148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90716726C>T" "" "likely benign" "" "0000262041" "0" "50" "5" "90016829" "90016829" "subst" "0.000187015" "01943" "GPR98_010223" "g.90016829C>T" "" "" "" "ADGRV1(NM_032119.4):c.9701C>T (p.A3234V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90721012C>T" "" "VUS" "" "0000277453" "0" "10" "5" "90041574" "90041574" "subst" "0.00453207" "02330" "GPR98_010263" "g.90041574T>C" "" "" "" "ADGRV1(NM_032119.4):c.10936T>C (p.S3646P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90745757T>C" "" "benign" "" "0000277454" "0" "30" "5" "90059182" "90059182" "subst" "0.000728187" "02330" "GPR98_010292" "g.90059182G>T" "" "" "" "ADGRV1(NM_032119.4):c.12181G>T (p.V4061F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90763365G>T" "" "likely benign" "" "0000277455" "0" "50" "5" "90106415" "90106415" "subst" "1.62682E-5" "02330" "GPR98_010337" "g.90106415T>G" "" "" "" "ADGRV1(NM_032119.4):c.15338T>G (p.L5113R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90810598T>G" "" "VUS" "" "0000277456" "0" "30" "5" "90106906" "90106906" "subst" "0.000182891" "02330" "GPR98_010446" "g.90106906C>T" "" "" "" "ADGRV1(NM_032119.4):c.15829C>T (p.R5277C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90811089C>T" "" "likely benign" "" "0000277457" "0" "10" "5" "90111425" "90111425" "subst" "0.000141783" "02330" "GPR98_010448" "g.90111425C>G" "" "" "" "ADGRV1(NM_032119.4):c.16079-11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90815608C>G" "" "benign" "" "0000277458" "0" "30" "5" "90119358" "90119358" "subst" "6.09315E-5" "02330" "GPR98_010348" "g.90119358C>T" "" "" "" "ADGRV1(NM_032119.4):c.16313C>T (p.T5438I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90823541C>T" "" "likely benign" "" "0000277462" "0" "10" "5" "90445841" "90445842" "del" "0" "02330" "GPR98_010385" "g.90445841_90445842del" "" "" "" "ADGRV1(NM_032119.4):c.18433-6_18433-5delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91150024_91150025del" "" "benign" "" "0000277463" "0" "10" "5" "90445842" "90445842" "del" "0" "02330" "GPR98_010384" "g.90445842del" "" "" "" "ADGRV1(NM_032119.4):c.18433-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91150025del" "" "benign" "" "0000277465" "0" "30" "5" "89940547" "89940547" "subst" "1.2337E-5" "02330" "GPR98_010068" "g.89940547G>A" "" "" "" "ADGRV1(NM_032119.4):c.2759G>A (p.R920Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90644730G>A" "" "likely benign" "" "0000277466" "0" "30" "5" "89977125" "89977125" "subst" "0.00509258" "02330" "GPR98_010120" "g.89977125C>T" "" "" "" "ADGRV1(NM_032119.4):c.5525-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90681308C>T" "" "likely benign" "" "0000277467" "0" "10" "5" "89979833" "89979833" "subst" "0.000663692" "02330" "GPR98_010133" "g.89979833C>T" "" "" "" "ADGRV1(NM_032119.4):c.6095C>T (p.A2032V, p.(Ala2032Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90684016C>T" "" "benign" "" "0000277470" "0" "10" "5" "90002231" "90002232" "dup" "0" "02330" "GPR98_010193" "g.90002231_90002232dup" "" "" "" "ADGRV1(NM_032119.4):c.8730+20_8730+21dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90706414_90706415dup" "" "benign" "" "0000277471" "0" "10" "5" "90002232" "90002232" "del" "0" "02330" "GPR98_010194" "g.90002232del" "" "" "" "ADGRV1(NM_032119.4):c.8730+21delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90706415del" "" "benign" "" "0000277473" "0" "30" "5" "90004736" "90004736" "subst" "0.000535779" "02330" "GPR98_010200" "g.90004736G>A" "" "" "" "ADGRV1(NM_032119.4):c.8824+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90708919G>A" "" "likely benign" "" "0000277474" "0" "10" "5" "90016024" "90016024" "subst" "0.00144135" "02330" "GPR98_010220" "g.90016024T>A" "" "" "" "ADGRV1(NM_032119.4):c.9607T>A (p.S3203T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90720207T>A" "" "benign" "" "0000284790" "0" "30" "5" "89854666" "89854666" "subst" "0.00216171" "02326" "GPR98_010010" "g.89854666G>C" "" "" "" "ADGRV1(NM_032119.4):c.-47G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90558849G>C" "" "likely benign" "" "0000284791" "0" "30" "5" "90459793" "90459793" "subst" "0.000863546" "02326" "GPR98_010390" "g.90459793C>T" "" "" "" "ADGRV1(NM_032119.4):c.*76C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91163976C>T" "" "likely benign" "" "0000284792" "0" "30" "5" "90021035" "90021035" "subst" "0.0055456" "02326" "GPR98_010229" "g.90021035T>C" "" "" "" "ADGRV1(NM_032119.4):c.10039T>C (p.(Phe3347Leu), p.F3347L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90725218T>C" "" "likely benign" "" "0000284793" "0" "30" "5" "90021578" "90021578" "subst" "0" "02326" "GPR98_010238" "g.90021578C>A" "" "" "" "ADGRV1(NM_032119.4):c.10161+105C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90725761C>A" "" "likely benign" "" "0000284794" "0" "10" "5" "90021499" "90021499" "subst" "0" "02326" "GPR98_010235" "g.90021499G>T" "" "" "" "ADGRV1(NM_032119.4):c.10161+26_10161+27delGTinsTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90725682G>T" "" "benign" "" "0000284795" "0" "30" "5" "90021508" "90021508" "del" "0" "02326" "GPR98_010236" "g.90021508del" "" "" "" "ADGRV1(NM_032119.4):c.10161+35delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90725691del" "" "likely benign" "" "0000284796" "0" "30" "5" "90024584" "90024584" "subst" "0.00147052" "02326" "GPR98_010240" "g.90024584C>T" "" "" "" "ADGRV1(NM_032119.4):c.10260C>T (p.F3420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90728767C>T" "" "likely benign" "" "0000284797" "0" "30" "5" "90024802" "90024802" "subst" "0" "02326" "GPR98_010244" "g.90024802C>G" "" "" "" "ADGRV1(NM_032119.4):c.10426+52C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90728985C>G" "" "likely benign" "" "0000284798" "0" "10" "5" "90025412" "90025412" "subst" "0" "02326" "GPR98_010247" "g.90025412T>C" "" "" "" "ADGRV1(NM_032119.4):c.10427-47T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90729595T>C" "" "benign" "" "0000284799" "0" "30" "5" "90025376" "90025378" "del" "0" "02326" "GPR98_010245" "g.90025376_90025378del" "" "" "" "ADGRV1(NM_032119.4):c.10427-83_10427-81delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90729559_90729561del" "" "likely benign" "" "0000284800" "0" "30" "5" "90025699" "90025700" "del" "0" "02326" "GPR98_010249" "g.90025699_90025700del" "" "" "" "ADGRV1(NM_032119.4):c.10549+118_10549+119delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90729882_90729883del" "" "likely benign" "" "0000284801" "0" "30" "5" "90025700" "90025700" "del" "0" "02326" "GPR98_010248" "g.90025700del" "" "" "" "ADGRV1(NM_032119.4):c.10549+119delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90729883del" "" "likely benign" "" "0000284802" "0" "30" "5" "90040759" "90040759" "subst" "0" "02326" "GPR98_010251" "g.90040759G>A" "" "" "" "ADGRV1(NM_032119.4):c.10550-104G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90744942G>A" "" "likely benign" "" "0000284803" "0" "30" "5" "90040706" "90040706" "subst" "0" "02326" "GPR98_010250" "g.90040706C>T" "" "" "" "ADGRV1(NM_032119.4):c.10550-157C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90744889C>T" "" "likely benign" "" "0000284804" "0" "10" "5" "90040890" "90040890" "subst" "0.0232014" "02326" "GPR98_010253" "g.90040890T>C" "" "" "" "ADGRV1(NM_032119.4):c.10577T>C (p.M3526T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90745073T>C" "" "benign" "" "0000284805" "0" "30" "5" "90041153" "90041153" "subst" "0" "02326" "GPR98_010256" "g.90041153C>A" "" "" "" "ADGRV1(NM_032119.4):c.10769+71C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90745336C>A" "" "likely benign" "" "0000284806" "0" "30" "5" "90041297" "90041297" "subst" "0" "02326" "GPR98_010257" "g.90041297T>C" "" "" "" "ADGRV1(NM_032119.4):c.10770-111T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90745480T>C" "" "likely benign" "" "0000284807" "0" "30" "5" "90041434" "90041434" "subst" "0.000921223" "02326" "GPR98_010258" "g.90041434G>C" "" "" "" "ADGRV1(NM_032119.4):c.10796G>C (p.G3599A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90745617G>C" "" "likely benign" "" "0000284808" "0" "30" "5" "90041574" "90041574" "subst" "0.00453207" "02326" "GPR98_010263" "g.90041574T>C" "" "" "" "ADGRV1(NM_032119.4):c.10936T>C (p.S3646P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90745757T>C" "" "likely benign" "" "0000284809" "0" "30" "5" "90046256" "90046256" "subst" "0" "02326" "GPR98_010265" "g.90046256C>A" "" "" "" "ADGRV1(NM_032119.4):c.10975-112C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90750439C>A" "" "likely benign" "" "0000284810" "0" "30" "5" "90046190" "90046191" "del" "0" "02326" "GPR98_010264" "g.90046190_90046191del" "" "" "" "ADGRV1(NM_032119.4):c.10975-178_10975-177delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90750373_90750374del" "" "likely benign" "" "0000284811" "0" "10" "5" "90046296" "90046296" "subst" "0" "02326" "GPR98_010266" "g.90046296C>T" "" "" "" "ADGRV1(NM_032119.4):c.10975-72C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90750479C>T" "" "benign" "" "0000284812" "0" "10" "5" "90050642" "90050642" "subst" "0" "02326" "GPR98_010271" "g.90050642G>A" "" "" "" "ADGRV1(NM_032119.4):c.11378-158G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90754825G>A" "" "benign" "" "0000284813" "0" "30" "5" "90050780" "90050780" "subst" "0.00106194" "02326" "GPR98_010272" "g.90050780G>A" "" "" "" "ADGRV1(NM_032119.4):c.11378-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90754963G>A" "" "likely benign" "" "0000284814" "0" "30" "5" "90050894" "90050894" "subst" "0.00614111" "02326" "GPR98_010274" "g.90050894G>A" "" "" "" "ADGRV1(NM_032119.4):c.11472G>A (p.L3824=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90755077G>A" "" "likely benign" "" "0000284815" "0" "10" "5" "90050903" "90050903" "subst" "0.00355074" "02326" "GPR98_010275" "g.90050903T>C" "" "" "" "ADGRV1(NM_032119.4):c.11481T>C (p.D3827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90755086T>C" "" "benign" "" "0000284816" "0" "30" "5" "90051052" "90051052" "subst" "0.00344887" "02326" "GPR98_010278" "g.90051052T>G" "" "" "" "ADGRV1(NM_032119.4):c.11580+50T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90755235T>G" "" "likely benign" "" "0000284819" "0" "30" "5" "90055459" "90055459" "subst" "0" "02326" "GPR98_010286" "g.90055459T>C" "" "" "" "ADGRV1(NM_032119.4):c.12120+54T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90759642T>C" "" "likely benign" "" "0000284820" "0" "30" "5" "90059101" "90059101" "del" "0" "02326" "GPR98_010291" "g.90059101del" "" "" "" "ADGRV1(NM_032119.4):c.12121-21delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90763284del" "" "likely benign" "" "0000284821" "0" "30" "5" "90059092" "90059092" "subst" "0.016767" "02326" "GPR98_010290" "g.90059092G>T" "" "" "" "ADGRV1(NM_032119.4):c.12121-30G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90763275G>T" "" "likely benign" "" "0000284822" "0" "30" "5" "90059091" "90059091" "dup" "0" "02326" "GPR98_010288" "g.90059091dup" "" "" "" "ADGRV1(NM_032119.4):c.12121-31dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90763274dup" "" "likely benign" "" "0000284823" "0" "30" "5" "90059091" "90059091" "del" "0" "02326" "GPR98_010289" "g.90059091del" "" "" "" "ADGRV1(NM_032119.4):c.12121-31delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90763274del" "" "likely benign" "" "0000284824" "0" "30" "5" "90059182" "90059182" "subst" "0.000728187" "02326" "GPR98_010292" "g.90059182G>T" "" "" "" "ADGRV1(NM_032119.4):c.12181G>T (p.V4061F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90763365G>T" "" "likely benign" "" "0000284826" "0" "10" "5" "90070161" "90070161" "subst" "0" "02326" "GPR98_010298" "g.90070161C>T" "" "" "" "ADGRV1(NM_032119.4):c.12403+41C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90774344C>T" "" "benign" "" "0000284827" "0" "10" "5" "90072121" "90072121" "subst" "0" "02326" "GPR98_010299" "g.90072121G>A" "" "" "" "ADGRV1(NM_032119.4):c.12404-149G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90776304G>A" "" "benign" "" "0000284828" "0" "30" "5" "90072211" "90072211" "subst" "0" "02326" "GPR98_010300" "g.90072211C>T" "" "" "" "ADGRV1(NM_032119.4):c.12404-59C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90776394C>T" "" "likely benign" "" "0000284829" "0" "30" "5" "90072399" "90072399" "subst" "0.000459458" "02326" "GPR98_010303" "g.90072399G>T" "" "" "" "ADGRV1(NM_032119.4):c.12527+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90776582G>T" "" "likely benign" "" "0000284830" "0" "30" "5" "90073786" "90073786" "subst" "0.00467864" "02326" "GPR98_010305" "g.90073786G>A" "" "" "" "ADGRV1(NM_032119.4):c.12592G>A (p.(Val4198Met), p.V4198M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90777969G>A" "" "likely benign" "" "0000284831" "0" "30" "5" "90073920" "90073920" "subst" "0" "02326" "GPR98_010308" "g.90073920G>A" "" "" "" "ADGRV1(NM_032119.4):c.12666+60G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90778103G>A" "" "likely benign" "" "0000284833" "0" "30" "5" "90074101" "90074101" "subst" "0" "02326" "GPR98_010310" "g.90074101T>C" "" "" "" "ADGRV1(NM_032119.4):c.12667-143T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90778284T>C" "" "likely benign" "" "0000284834" "0" "10" "5" "90074651" "90074651" "subst" "0.0215222" "02326" "GPR98_010311" "g.90074651C>T" "" "" "" "ADGRV1(NM_032119.4):c.12850-31C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90778834C>T" "" "benign" "" "0000284835" "0" "10" "5" "90074759" "90074759" "subst" "0.0238167" "02326" "GPR98_010314" "g.90074759G>A" "" "" "" "ADGRV1(NM_032119.4):c.12927G>A (p.A4309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90778942G>A" "" "benign" "" "0000284836" "0" "30" "5" "90074869" "90074869" "subst" "0.00187455" "02326" "GPR98_010316" "g.90074869C>T" "" "" "" "ADGRV1(NM_032119.4):c.13037C>T (p.P4346L), GPR98(NM_032119.3):c.13037C>T (p.(Pro4346Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90779052C>T" "" "likely benign" "" "0000284837" "0" "30" "5" "90077028" "90077028" "subst" "0" "02326" "GPR98_010319" "g.90077028G>A" "" "" "" "ADGRV1(NM_032119.4):c.13083-219G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90781211G>A" "" "likely benign" "" "0000284838" "0" "30" "5" "90077179" "90077179" "subst" "0" "02326" "GPR98_010320" "g.90077179G>A" "" "" "" "ADGRV1(NM_032119.4):c.13083-68G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90781362G>A" "" "likely benign" "" "0000284839" "0" "10" "5" "90077350" "90077350" "subst" "8.21423E-5" "02326" "GPR98_010321" "g.90077350G>A" "" "" "" "ADGRV1(NM_032119.4):c.13186G>A (p.A4396T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90781533G>A" "" "benign" "" "0000284840" "0" "30" "5" "90079811" "90079811" "subst" "0.0156382" "02326" "GPR98_010425" "g.90079811C>T" "" "" "" "ADGRV1(NM_032119.4):c.13590C>T (p.P4530=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90783994C>T" "" "likely benign" "" "0000284841" "0" "10" "5" "90083836" "90083836" "subst" "0" "02326" "GPR98_010324" "g.90083836G>A" "" "" "" "ADGRV1(NM_032119.4):c.13654-52G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90788019G>A" "" "benign" "" "0000284842" "0" "30" "5" "90085558" "90085558" "subst" "0" "02326" "GPR98_010427" "g.90085558G>A" "" "" "" "ADGRV1(NM_032119.4):c.13933G>A (p.A4645T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90789741G>A" "" "likely benign" "" "0000284843" "0" "10" "5" "90085654" "90085654" "subst" "0.0101708" "02326" "GPR98_010428" "g.90085654T>C" "" "" "" "ADGRV1(NM_032119.4):c.14029T>C (p.F4677L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90789837T>C" "" "benign" "" "0000284844" "0" "30" "5" "90085783" "90085783" "subst" "0" "02326" "GPR98_010327" "g.90085783G>A" "" "" "" "ADGRV1(NM_032119.4):c.14043+115G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90789966G>A" "" "likely benign" "" "0000284845" "0" "30" "5" "90086600" "90086600" "del" "0" "02326" "GPR98_010430" "g.90086600del" "" "" "" "ADGRV1(NM_032119.4):c.14044-90delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90790783del" "" "likely benign" "" "0000284846" "0" "30" "5" "90086592" "90086592" "subst" "0" "02326" "GPR98_010431" "g.90086592T>A" "" "" "" "ADGRV1(NM_032119.4):c.14044-98T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90790775T>A" "" "likely benign" "" "0000284847" "0" "10" "5" "90086702" "90086702" "subst" "0" "02326" "GPR98_010328" "g.90086702T>A" "" "" "" "ADGRV1(NM_032119.4):c.14056T>A (p.L4686I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90790885T>A" "" "benign" "" "0000284848" "0" "10" "5" "90086955" "90086955" "subst" "0.00338819" "02326" "GPR98_010434" "g.90086955G>A" "" "" "" "ADGRV1(NM_032119.4):c.14309G>A (p.R4770H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90791138G>A" "" "benign" "" "0000284849" "0" "30" "5" "90087019" "90087019" "subst" "0.00014244" "02326" "GPR98_010435" "g.90087019T>A" "" "" "" "ADGRV1(NM_032119.4):c.14373T>A (p.A4791=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90791202T>A" "" "likely benign" "" "0000284850" "0" "30" "5" "90087224" "90087224" "subst" "0" "02326" "GPR98_010437" "g.90087224G>A" "" "" "" "ADGRV1(NM_032119.4):c.14517+61G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90791407G>A" "" "likely benign" "" "0000284851" "0" "30" "5" "90098550" "90098550" "subst" "0" "02326" "GPR98_010331" "g.90098550T>C" "" "" "" "ADGRV1(NM_032119.4):c.14518-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90802733T>C" "" "likely benign" "" "0000284852" "0" "30" "5" "90101130" "90101130" "subst" "0" "02326" "GPR98_010332" "g.90101130C>T" "" "" "" "ADGRV1(NM_032119.4):c.14691C>T (p.L4897=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90805313C>T" "" "likely benign" "" "0000284853" "0" "30" "5" "90101200" "90101200" "subst" "0.000504131" "02326" "GPR98_010440" "g.90101200G>A" "" "" "" "ADGRV1(NM_032119.4):c.14761G>A (p.A4921T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90805383G>A" "" "likely benign" "" "0000284854" "0" "30" "5" "90103414" "90103414" "subst" "0" "02326" "GPR98_010333" "g.90103414T>C" "" "" "" "ADGRV1(NM_032119.4):c.14837-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90807597T>C" "" "likely benign" "" "0000284855" "0" "30" "5" "90103687" "90103687" "subst" "0" "02326" "GPR98_010335" "g.90103687C>T" "" "" "" "ADGRV1(NM_032119.4):c.14972+133C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90807870C>T" "" "likely benign" "" "0000284856" "0" "10" "5" "90103709" "90103709" "subst" "0" "02326" "GPR98_010442" "g.90103709G>T" "" "" "" "ADGRV1(NM_032119.4):c.14972+155G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90807892G>T" "" "benign" "" "0000284857" "0" "30" "5" "90103603" "90103603" "subst" "0" "02326" "GPR98_010441" "g.90103603G>A" "" "" "" "ADGRV1(NM_032119.4):c.14972+49G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90807786G>A" "" "likely benign" "" "0000284858" "0" "30" "5" "90105992" "90105992" "subst" "0" "02326" "GPR98_010336" "g.90105992C>T" "" "" "" "ADGRV1(NM_032119.4):c.14973-58C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90810175C>T" "" "likely benign" "" "0000284859" "0" "30" "5" "90106906" "90106906" "subst" "0.000182891" "02326" "GPR98_010446" "g.90106906C>T" "" "" "" "ADGRV1(NM_032119.4):c.15829C>T (p.R5277C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90811089C>T" "" "likely benign" "" "0000284860" "0" "10" "5" "90111425" "90111425" "subst" "0.000141783" "02326" "GPR98_010448" "g.90111425C>G" "" "" "" "ADGRV1(NM_032119.4):c.16079-11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90815608C>G" "" "benign" "" "0000284861" "0" "30" "5" "90111431" "90111431" "subst" "0" "02326" "GPR98_010341" "g.90111431T>C" "" "" "" "ADGRV1(NM_032119.4):c.16079-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90815614T>C" "" "likely benign" "" "0000284862" "0" "30" "5" "90111355" "90111355" "subst" "0" "02326" "GPR98_010447" "g.90111355T>A" "" "" "" "ADGRV1(NM_032119.4):c.16079-81T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90815538T>A" "" "likely benign" "" "0000284863" "0" "10" "5" "90111593" "90111593" "subst" "0.0238812" "02326" "GPR98_010449" "g.90111593T>C" "" "" "" "ADGRV1(NM_032119.4):c.16196+40T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90815776T>C" "" "benign" "" "0000284865" "0" "10" "5" "90119550" "90119550" "subst" "0" "02326" "GPR98_010351" "g.90119550T>C" "" "" "" "ADGRV1(NM_032119.4):c.16368+137T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90823733T>C" "" "benign" "" "0000284866" "0" "10" "5" "89925169" "89925169" "subst" "0.00397509" "02326" "GPR98_010042" "g.89925169T>C" "" "" "" "ADGRV1(NM_032119.4):c.1652T>C (p.V551A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90629352T>C" "" "benign" "" "0000284867" "0" "10" "5" "90136330" "90136330" "subst" "0" "02326" "GPR98_010354" "g.90136330G>C" "" "" "" "ADGRV1(NM_032119.4):c.16612-65G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90840513G>C" "" "benign" "" "0000284868" "0" "30" "5" "90144363" "90144363" "subst" "0" "02326" "GPR98_010359" "g.90144363T>C" "" "" "" "ADGRV1(NM_032119.4):c.17020-91T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90848546T>C" "" "likely benign" "" "0000284869" "0" "30" "5" "90144736" "90144736" "subst" "0" "02326" "GPR98_010361" "g.90144736T>G" "" "" "" "ADGRV1(NM_032119.4):c.17204+98T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90848919T>G" "" "likely benign" "" "0000284870" "0" "30" "5" "90149807" "90149807" "subst" "0" "02326" "GPR98_010363" "g.90149807G>C" "" "" "" "ADGRV1(NM_032119.4):c.17455-72G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90853990G>C" "" "likely benign" "" "0000284871" "0" "30" "5" "90151795" "90151795" "subst" "0" "02326" "GPR98_010369" "g.90151795C>A" "" "" "" "ADGRV1(NM_032119.4):c.17755+77C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90855978C>A" "" "likely benign" "" "0000284872" "0" "10" "5" "90159453" "90159453" "subst" "0" "02326" "GPR98_010370" "g.90159453G>T" "" "" "" "ADGRV1(NM_032119.4):c.17756-121G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90863636G>T" "" "benign" "" "0000284873" "0" "30" "5" "90159685" "90159685" "subst" "0.0026955" "02326" "GPR98_010371" "g.90159685G>A" "" "" "" "ADGRV1(NM_032119.4):c.17856+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90863868G>A" "" "likely benign" "" "0000284874" "0" "10" "5" "90261226" "90261226" "subst" "0.000138182" "02326" "GPR98_010373" "g.90261226T>C" "" "" "" "ADGRV1(NM_032119.4):c.17857-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90965409T>C" "" "benign" "" "0000284875" "0" "30" "5" "90261239" "90261239" "subst" "0" "02326" "GPR98_010374" "g.90261239T>C" "" "" "" "ADGRV1(NM_032119.4):c.17864T>C (p.F5955S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90965422T>C" "" "likely benign" "" "0000284876" "0" "30" "5" "90281394" "90281394" "subst" "0" "02326" "GPR98_010379" "g.90281394C>T" "" "" "" "ADGRV1(NM_032119.4):c.18152+55C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90985577C>T" "" "likely benign" "" "0000284877" "0" "10" "5" "90398030" "90398030" "subst" "0" "02326" "GPR98_010383" "g.90398030T>C" "" "" "" "ADGRV1(NM_032119.4):c.18311-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91102213T>C" "" "benign" "" "0000284878" "0" "30" "5" "90398074" "90398074" "subst" "8.2883E-5" "02326" "GPR98_010454" "g.90398074G>A" "" "" "" "ADGRV1(NM_032119.4):c.18349G>A (p.V6117M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91102257G>A" "" "likely benign" "" "0000284879" "0" "30" "5" "89925354" "89925354" "subst" "0.000836638" "02326" "GPR98_010046" "g.89925354C>A" "" "" "" "ADGRV1(NM_032119.4):c.1837C>A (p.Q613K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90629537C>A" "" "likely benign" "" "0000284880" "0" "30" "5" "89925464" "89925464" "subst" "0" "02326" "GPR98_010048" "g.89925464T>G" "" "" "" "ADGRV1(NM_032119.4):c.1839+108T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90629647T>G" "" "likely benign" "" "0000284881" "0" "10" "5" "89925363" "89925363" "subst" "0.00256604" "02326" "GPR98_010047" "g.89925363G>A" "" "" "" "ADGRV1(NM_032119.4):c.1839+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90629546G>A" "" "benign" "" "0000284882" "0" "10" "5" "90445831" "90445831" "subst" "0" "02326" "GPR98_010458" "g.90445831T>C" "" "" "" "ADGRV1(NM_032119.4):c.18433-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91150014T>C" "" "benign" "" "0000284883" "0" "30" "5" "90445842" "90445842" "del" "0" "02326" "GPR98_010384" "g.90445842del" "" "" "" "ADGRV1(NM_032119.4):c.18433-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91150025del" "" "likely benign" "" "0000284884" "0" "30" "5" "90449159" "90449159" "subst" "0.00153789" "02326" "GPR98_010412" "g.90449159T>G" "" "" "" "ADGRV1(NM_032119.4):c.18746T>G (p.L6249R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91153342T>G" "" "likely benign" "" "0000284885" "0" "30" "5" "90449259" "90449259" "subst" "0.00366112" "02326" "GPR98_010464" "g.90449259C>G" "" "" "" "ADGRV1(NM_032119.4):c.18802+44C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91153442C>G" "" "likely benign" "" "0000284886" "0" "10" "5" "90459521" "90459521" "subst" "0" "02326" "GPR98_010388" "g.90459521G>T" "" "" "" "ADGRV1(NM_032119.4):c.18803-78G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91163704G>T" "" "benign" "" "0000284887" "0" "30" "5" "89931242" "89931242" "subst" "0" "02326" "GPR98_010052" "g.89931242C>T" "" "" "" "ADGRV1(NM_032119.4):c.2016+135C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90635425C>T" "" "likely benign" "" "0000284888" "0" "30" "5" "89931262" "89931262" "subst" "0" "02326" "GPR98_010053" "g.89931262T>G" "" "" "" "ADGRV1(NM_032119.4):c.2016+155T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90635445T>G" "" "likely benign" "" "0000284889" "0" "30" "5" "89931169" "89931169" "subst" "0" "02326" "GPR98_010050" "g.89931169T>A" "" "" "" "ADGRV1(NM_032119.4):c.2016+62T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90635352T>A" "" "likely benign" "" "0000284890" "0" "30" "5" "89931169" "89931169" "subst" "0" "02326" "GPR98_010051" "g.89931169T>C" "" "" "" "ADGRV1(NM_032119.4):c.2016+62T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90635352T>C" "" "likely benign" "" "0000284891" "0" "10" "5" "89910914" "89910914" "del" "0" "02326" "GPR98_010022" "g.89910914del" "" "" "" "ADGRV1(NM_032119.4):c.207+78delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90615097del" "" "benign" "" "0000284892" "0" "30" "5" "89910918" "89910921" "del" "0" "02326" "GPR98_010023" "g.89910918_89910921del" "" "" "" "ADGRV1(NM_032119.4):c.207+82_207+85delTTTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90615101_90615104del" "" "likely benign" "" "0000284893" "0" "30" "5" "89933904" "89933904" "subst" "0" "02326" "GPR98_010057" "g.89933904C>G" "" "" "" "ADGRV1(NM_032119.4):c.2240+139C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90638087C>G" "" "likely benign" "" "0000284894" "0" "10" "5" "89933838" "89933838" "del" "0" "02326" "GPR98_010056" "g.89933838del" "" "" "" "ADGRV1(NM_032119.4):c.2240+73delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90638021del" "" "benign" "" "0000284895" "0" "30" "5" "89938304" "89938304" "subst" "0" "02326" "GPR98_010058" "g.89938304T>A" "" "" "" "ADGRV1(NM_032119.4):c.2241-149T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90642487T>A" "" "likely benign" "" "0000284896" "0" "30" "5" "89938423" "89938423" "subst" "0.00587605" "02326" "GPR98_010059" "g.89938423G>A" "" "" "" "ADGRV1(NM_032119.4):c.2241-30G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90642606G>A" "" "likely benign" "" "0000284897" "0" "30" "5" "89910492" "89910492" "subst" "0" "02326" "GPR98_010018" "g.89910492C>G" "" "" "" "ADGRV1(NM_032119.4):c.23-160C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90614675C>G" "" "likely benign" "" "0000284898" "0" "30" "5" "89910142" "89910142" "subst" "0" "02326" "GPR98_010017" "g.89910142C>T" "" "" "" "ADGRV1(NM_032119.4):c.23-510C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90614325C>T" "" "likely benign" "" "0000284899" "0" "10" "5" "89910126" "89910126" "del" "0" "02326" "GPR98_010016" "g.89910126del" "" "" "" "ADGRV1(NM_032119.4):c.23-526delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90614309del" "" "benign" "" "0000284900" "0" "10" "5" "89910061" "89910061" "subst" "0" "02326" "GPR98_010014" "g.89910061G>A" "" "" "" "ADGRV1(NM_032119.4):c.23-591G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90614244G>A" "" "benign" "" "0000284901" "0" "30" "5" "89909995" "89909995" "subst" "0" "02326" "GPR98_010013" "g.89909995T>A" "" "" "" "ADGRV1(NM_032119.4):c.23-657T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90614178T>A" "" "likely benign" "" "0000284903" "0" "30" "5" "89938869" "89938869" "subst" "0.00595014" "02326" "GPR98_010064" "g.89938869T>A" "" "" "" "ADGRV1(NM_032119.4):c.2553+11T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90643052T>A" "" "likely benign" "" "0000284904" "0" "30" "5" "89940513" "89940513" "subst" "0.00370986" "02326" "GPR98_010066" "g.89940513C>A" "" "" "" "ADGRV1(NM_032119.4):c.2735-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90644696C>A" "" "likely benign" "" "0000284905" "0" "10" "5" "89943547" "89943547" "subst" "0.00142756" "02326" "GPR98_010076" "g.89943547T>C" "" "" "" "ADGRV1(NM_032119.4):c.3255T>C (p.D1085=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90647730T>C" "" "benign" "" "0000284906" "0" "10" "5" "89913740" "89913740" "subst" "0.0054166" "02326" "GPR98_010024" "g.89913740C>T" "" "" "" "ADGRV1(NM_032119.4):c.327C>T (p.D109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90617923C>T" "" "benign" "" "0000284908" "0" "30" "5" "89943617" "89943617" "subst" "0" "02326" "GPR98_010079" "g.89943617T>C" "" "" "" "ADGRV1(NM_032119.4):c.3289+36T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90647800T>C" "" "likely benign" "" "0000284909" "0" "30" "5" "89943670" "89943670" "subst" "0" "02326" "GPR98_010080" "g.89943670T>C" "" "" "" "ADGRV1(NM_032119.4):c.3289+89T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90647853T>C" "" "likely benign" "" "0000284910" "0" "30" "5" "89943581" "89943581" "subst" "0.00527016" "02326" "GPR98_010078" "g.89943581G>A" "" "" "" "ADGRV1(NM_032119.4):c.3289G>A (p.G1097S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90647764G>A" "" "likely benign" "" "0000284911" "0" "30" "5" "89948228" "89948228" "subst" "0.00127296" "02326" "GPR98_010006" "g.89948228C>G" "" "" "" "ADGRV1(NM_032119.4):c.3482C>G (p.S1161C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90652411C>G" "" "likely benign" "" "0000284913" "0" "30" "5" "89914908" "89914908" "subst" "0" "02326" "GPR98_010026" "g.89914908T>C" "" "" "" "ADGRV1(NM_032119.4):c.363T>C (p.P121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90619091T>C" "" "likely benign" "" "0000284914" "0" "30" "5" "89953660" "89953660" "subst" "0" "02326" "GPR98_010096" "g.89953660C>G" "" "" "" "ADGRV1(NM_032119.4):c.4379-62C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90657843C>G" "" "likely benign" "" "0000284915" "0" "30" "5" "89953625" "89953625" "subst" "0" "02326" "GPR98_010095" "g.89953625T>C" "" "" "" "ADGRV1(NM_032119.4):c.4379-97T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90657808T>C" "" "likely benign" "" "0000284916" "0" "30" "5" "89918232" "89918232" "subst" "0" "02326" "GPR98_010028" "g.89918232C>A" "" "" "" "ADGRV1(NM_032119.4):c.454-182_454-179delCTTTinsATTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90622415C>A" "" "likely benign" "" "0000284917" "0" "30" "5" "89954114" "89954114" "subst" "0.00993159" "02326" "GPR98_010102" "g.89954114G>T" "" "" "" "ADGRV1(NM_032119.4):c.4752+19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90658297G>T" "" "likely benign" "" "0000284918" "0" "30" "5" "89968474" "89968474" "subst" "0.000930546" "02326" "GPR98_010103" "g.89968474T>C" "" "" "" "ADGRV1(NM_032119.4):c.4864T>C (p.Y1622H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90672657T>C" "" "likely benign" "" "0000284919" "0" "10" "5" "89970158" "89970158" "subst" "0" "02326" "GPR98_010106" "g.89970158C>T" "" "" "" "ADGRV1(NM_032119.4):c.5110+107C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90674341C>T" "" "benign" "" "0000284920" "0" "10" "5" "89970170" "89970170" "subst" "0" "02326" "GPR98_010107" "g.89970170T>G" "" "" "" "ADGRV1(NM_032119.4):c.5110+119T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90674353T>G" "" "benign" "" "0000284921" "0" "10" "5" "89971253" "89971253" "subst" "0.0132009" "02326" "GPR98_010111" "g.89971253G>A" "" "" "" "ADGRV1(NM_032119.4):c.5304G>A (p.E1768=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90675436G>A" "" "benign" "" "0000284922" "0" "30" "5" "89975342" "89975342" "subst" "0.000756479" "02326" "GPR98_010115" "g.89975342G>T" "" "" "" "ADGRV1(NM_032119.4):c.5444-24G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90679525G>T" "" "likely benign" "" "0000284923" "0" "30" "5" "89975282" "89975282" "subst" "0" "02326" "GPR98_010113" "g.89975282G>T" "" "" "" "ADGRV1(NM_032119.4):c.5444-84G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90679465G>T" "" "likely benign" "" "0000284924" "0" "30" "5" "89977104" "89977104" "subst" "0" "02326" "GPR98_010119" "g.89977104T>C" "" "" "" "ADGRV1(NM_032119.4):c.5525-28T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90681287T>C" "" "likely benign" "" "0000284925" "0" "30" "5" "89977099" "89977099" "subst" "0.00278178" "02326" "GPR98_010118" "g.89977099T>C" "" "" "" "ADGRV1(NM_032119.4):c.5525-33T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90681282T>C" "" "likely benign" "" "0000284926" "0" "30" "5" "89977083" "89977083" "subst" "0" "02326" "GPR98_010117" "g.89977083T>A" "" "" "" "ADGRV1(NM_032119.4):c.5525-49T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90681266T>A" "" "likely benign" "" "0000284927" "0" "10" "5" "89977125" "89977125" "subst" "0.00509258" "02326" "GPR98_010120" "g.89977125C>T" "" "" "" "ADGRV1(NM_032119.4):c.5525-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90681308C>T" "" "benign" "" "0000284928" "0" "30" "5" "89979468" "89979468" "subst" "2.03475E-5" "02326" "GPR98_010122" "g.89979468T>C" "" "" "" "ADGRV1(NM_032119.4):c.5730T>C (p.D1910=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90683651T>C" "" "likely benign" "" "0000284929" "0" "30" "5" "89979485" "89979485" "subst" "0.00275429" "02326" "GPR98_010123" "g.89979485C>T" "" "" "" "ADGRV1(NM_032119.4):c.5747C>T (p.T1916I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90683668C>T" "" "likely benign" "" "0000284930" "0" "30" "5" "89979519" "89979519" "subst" "6.9154E-5" "02326" "GPR98_010125" "g.89979519G>A" "" "" "" "ADGRV1(NM_032119.4):c.5781G>A (p.T1927=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90683702G>A" "" "likely benign" "" "0000284931" "0" "10" "5" "89920969" "89920969" "subst" "0.00454078" "02326" "GPR98_010030" "g.89920969C>A" "" "" "" "ADGRV1(NM_032119.4):c.581C>A (p.(Pro194His), p.P194H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90625152C>A" "" "benign" "" "0000284932" "0" "30" "5" "89979824" "89979824" "subst" "0.000150632" "02326" "GPR98_010132" "g.89979824C>T" "" "" "" "ADGRV1(NM_032119.4):c.6086C>T (p.P2029L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90684007C>T" "" "likely benign" "" "0000284933" "0" "30" "5" "89979871" "89979871" "subst" "0.00433146" "02326" "GPR98_010134" "g.89979871G>A" "" "" "" "ADGRV1(NM_032119.4):c.6133G>A (p.G2045R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90684054G>A" "" "likely benign" "" "0000284934" "0" "30" "5" "89979967" "89979967" "subst" "5.75227E-5" "02326" "GPR98_010138" "g.89979967G>A" "" "" "" "ADGRV1(NM_032119.4):c.6229G>A (p.E2077K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90684150G>A" "" "likely benign" "" "0000284935" "0" "10" "5" "89981467" "89981467" "subst" "0" "02326" "GPR98_010142" "g.89981467G>C" "" "" "" "ADGRV1(NM_032119.4):c.6275-130G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90685650G>C" "" "benign" "" "0000284936" "0" "30" "5" "89981464" "89981464" "dup" "0" "02326" "GPR98_010141" "g.89981464dup" "" "" "" "ADGRV1(NM_032119.4):c.6275-133dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90685647dup" "" "likely benign" "" "0000284937" "0" "30" "5" "89981563" "89981563" "subst" "0.00140954" "02326" "GPR98_010143" "g.89981563T>A" "" "" "" "ADGRV1(NM_032119.4):c.6275-34T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90685746T>A" "" "likely benign" "" "0000284938" "0" "10" "5" "89981611" "89981611" "subst" "0.018162" "02326" "GPR98_010144" "g.89981611C>T" "" "" "" "ADGRV1(NM_032119.4):c.6289C>T (p.R2097C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90685794C>T" "" "benign" "" "0000284940" "0" "30" "5" "89988549" "89988549" "subst" "0.00190183" "02326" "GPR98_010159" "g.89988549G>A" "" "" "" "ADGRV1(NM_032119.4):c.7079G>A (p.R2360H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90692732G>A" "" "likely benign" "" "0000284941" "0" "30" "5" "89988651" "89988651" "subst" "0.0179491" "02326" "GPR98_010160" "g.89988651G>A" "" "" "" "ADGRV1(NM_032119.4):c.7133+48G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90692834G>A" "" "likely benign" "" "0000284943" "0" "30" "5" "89989749" "89989749" "subst" "0.0034714" "02326" "GPR98_010164" "g.89989749C>T" "" "" "" "ADGRV1(NM_032119.4):c.7176C>T (p.S2392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90693932C>T" "" "likely benign" "" "0000284944" "0" "30" "5" "89989752" "89989752" "subst" "0.00836268" "02326" "GPR98_010165" "g.89989752C>T" "" "" "" "ADGRV1(NM_032119.4):c.7179C>T (p.D2393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90693935C>T" "" "likely benign" "" "0000284945" "0" "30" "5" "89923101" "89923101" "subst" "0.00638071" "02326" "GPR98_010032" "g.89923101G>A" "" "" "" "ADGRV1(NM_032119.4):c.746G>A (p.R249K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90627284G>A" "" "likely benign" "" "0000284946" "0" "30" "5" "89990155" "89990155" "subst" "0.00416253" "02326" "GPR98_000239" "g.89990155C>T" "" "" "" "ADGRV1(NM_032119.4):c.7582C>T (p.P2528S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90694338C>T" "" "likely benign" "" "0000284947" "0" "30" "5" "89990386" "89990386" "subst" "0.00366822" "02326" "GPR98_010172" "g.89990386T>G" "" "" "" "ADGRV1(NM_032119.4):c.7813T>G (p.L2605V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90694569T>G" "" "likely benign" "" "0000284948" "0" "30" "5" "89990447" "89990447" "subst" "0.00247599" "02326" "GPR98_010173" "g.89990447G>A" "" "" "" "ADGRV1(NM_032119.4):c.7874G>A (p.R2625H), GPR98(NM_032119.3):c.7874G>A (p.(Arg2625His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90694630G>A" "" "likely benign" "" "0000284949" "0" "30" "5" "89990634" "89990634" "subst" "0" "02326" "GPR98_010176" "g.89990634G>A" "" "" "" "ADGRV1(NM_032119.4):c.7945+116G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90694817G>A" "" "likely benign" "" "0000284950" "0" "30" "5" "89990545" "89990545" "subst" "0.000466429" "02326" "GPR98_010175" "g.89990545C>T" "" "" "" "ADGRV1(NM_032119.4):c.7945+27C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90694728C>T" "" "likely benign" "" "0000284951" "0" "30" "5" "89990524" "89990524" "subst" "0.0030197" "02326" "GPR98_010174" "g.89990524C>T" "" "" "" "ADGRV1(NM_032119.4):c.7945+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90694707C>T" "" "likely benign" "" "0000284952" "0" "30" "5" "89992596" "89992596" "subst" "0" "02326" "GPR98_010177" "g.89992596T>C" "" "" "" "ADGRV1(NM_032119.4):c.7946-158T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90696779T>C" "" "likely benign" "" "0000284953" "0" "10" "5" "89999626" "89999626" "subst" "0" "02326" "GPR98_010181" "g.89999626G>A" "" "" "" "ADGRV1(NM_032119.4):c.8286+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90703809G>A" "" "benign" "" "0000284954" "0" "10" "5" "90000195" "90000195" "subst" "5.82873E-6" "02326" "GPR98_010182" "g.90000195G>C" "" "" "" "ADGRV1(NM_032119.4):c.8287-11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90704378G>C" "" "benign" "" "0000284955" "0" "10" "5" "90001237" "90001237" "subst" "0.0107832" "02326" "GPR98_010183" "g.90001237G>A" "" "" "" "ADGRV1(NM_032119.4):c.8407G>A (p.A2803T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90705420G>A" "" "benign" "" "0000284956" "0" "30" "5" "90001487" "90001487" "subst" "0" "02326" "GPR98_010186" "g.90001487G>A" "" "" "" "ADGRV1(NM_032119.4):c.8566+91G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90705670G>A" "" "likely benign" "" "0000284957" "0" "30" "5" "90002232" "90002232" "dup" "0" "02326" "GPR98_010192" "g.90002232dup" "" "" "" "ADGRV1(NM_032119.4):c.8730+21dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90706415dup" "" "likely benign" "" "0000284958" "0" "10" "5" "90002232" "90002232" "del" "0" "02326" "GPR98_010194" "g.90002232del" "" "" "" "ADGRV1(NM_032119.4):c.8730+21delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90706415del" "" "benign" "" "0000284960" "0" "30" "5" "90004474" "90004474" "subst" "0" "02326" "GPR98_010196" "g.90004474C>T" "" "" "" "ADGRV1(NM_032119.4):c.8731-159C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90708657C>T" "" "likely benign" "" "0000284961" "0" "30" "5" "90004559" "90004563" "del" "0" "02326" "GPR98_010197" "g.90004559_90004563del" "" "" "" "ADGRV1(NM_032119.4):c.8731-74_8731-70delTTTAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90708742_90708746del" "" "likely benign" "" "0000284962" "0" "10" "5" "90006849" "90006849" "subst" "0.00637143" "02326" "GPR98_010204" "g.90006849G>A" "" "" "" "ADGRV1(NM_032119.4):c.8876G>A (p.R2959Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90711032G>A" "" "benign" "" "0000284963" "0" "30" "5" "90008356" "90008356" "subst" "0" "02326" "GPR98_010210" "g.90008356G>T" "" "" "" "ADGRV1(NM_032119.4):c.9184+111G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90712539G>T" "" "likely benign" "" "0000284964" "0" "30" "5" "90008416" "90008416" "subst" "0" "02326" "GPR98_010211" "g.90008416C>T" "" "" "" "ADGRV1(NM_032119.4):c.9184+171C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90712599C>T" "" "likely benign" "" "0000284965" "0" "10" "5" "90012312" "90012312" "subst" "0.0025666" "02326" "GPR98_010212" "g.90012312C>T" "" "" "" "ADGRV1(NM_032119.4):c.9213C>T (p.D3071=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90716495C>T" "" "benign" "" "0000284966" "0" "30" "5" "90012609" "90012609" "subst" "0" "02326" "GPR98_010217" "g.90012609C>G" "" "" "" "ADGRV1(NM_032119.4):c.9447+63C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90716792C>G" "" "likely benign" "" "0000284967" "0" "30" "5" "90015969" "90015969" "subst" "0" "02326" "GPR98_010219" "g.90015969T>A" "" "" "" "ADGRV1(NM_032119.4):c.9552T>A (p.V3184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90720152T>A" "" "likely benign" "" "0000284968" "0" "10" "5" "90016778" "90016778" "subst" "0.00909394" "02326" "GPR98_010222" "g.90016778C>T" "" "" "" "ADGRV1(NM_032119.4):c.9650C>T (p.A3217V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90720961C>T" "" "benign" "" "0000284969" "0" "30" "5" "90020527" "90020527" "subst" "0" "02326" "GPR98_010226" "g.90020527G>A" "" "" "" "ADGRV1(NM_032119.4):c.9749-122G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90724710G>A" "" "likely benign" "" "0000284970" "0" "30" "5" "90020671" "90020671" "subst" "0.00578394" "02326" "GPR98_010227" "g.90020671C>T" "" "" "" "ADGRV1(NM_032119.4):c.9771C>T (p.S3257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90724854C>T" "" "likely benign" "" "0000288694" "0" "30" "5" "90021405" "90021405" "subst" "4.07534E-6" "01943" "GPR98_010232" "g.90021405T>C" "" "" "" "ADGRV1(NM_032119.4):c.10093T>C (p.Y3365H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90725588T>C" "" "likely benign" "" "0000288695" "0" "30" "5" "90040856" "90040856" "subst" "0.000175316" "01943" "GPR98_010252" "g.90040856C>T" "" "" "" "ADGRV1(NM_032119.4):c.10550-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90745039C>T" "" "likely benign" "" "0000288696" "0" "10" "5" "90040920" "90040920" "subst" "0.00100376" "01943" "GPR98_010254" "g.90040920G>A" "" "" "" "ADGRV1(NM_032119.4):c.10607G>A (p.R3536H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90745103G>A" "" "benign" "" "0000288697" "0" "50" "5" "90041458" "90041458" "subst" "8.14041E-6" "01943" "GPR98_010259" "g.90041458T>C" "" "" "" "ADGRV1(NM_032119.4):c.10820T>C (p.V3607A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90745641T>C" "" "VUS" "" "0000288698" "0" "30" "5" "90041574" "90041574" "subst" "0.00453207" "01943" "GPR98_010263" "g.90041574T>C" "" "" "" "ADGRV1(NM_032119.4):c.10936T>C (p.S3646P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90745757T>C" "" "likely benign" "" "0000288699" "0" "30" "5" "90049470" "90049470" "subst" "0.00049217" "01943" "GPR98_010269" "g.90049470T>C" "" "" "" "ADGRV1(NM_032119.4):c.11201T>C (p.V3734A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90753653T>C" "" "likely benign" "" "0000288700" "0" "50" "5" "90051001" "90051001" "subst" "0" "01943" "GPR98_010277" "g.90051001C>G" "" "" "" "ADGRV1(NM_032119.4):c.11579C>G (p.P3860R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90755184C>G" "" "VUS" "" "0000288701" "0" "50" "5" "90052296" "90052296" "subst" "0" "01943" "GPR98_010282" "g.90052296G>T" "" "" "" "ADGRV1(NM_032119.4):c.11606G>T (p.G3869V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90756479G>T" "" "VUS" "" "0000288702" "0" "50" "5" "90052944" "90052944" "subst" "4.06451E-6" "01943" "GPR98_010284" "g.90052944C>G" "" "" "" "ADGRV1(NM_032119.4):c.11906C>G (p.P3969R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90757127C>G" "" "VUS" "" "0000288703" "0" "50" "5" "90070096" "90070096" "subst" "2.85616E-5" "01943" "GPR98_010297" "g.90070096G>A" "" "" "" "ADGRV1(NM_032119.4):c.12379G>A (p.E4127K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90774279G>A" "" "VUS" "" "0000288704" "0" "50" "5" "90072330" "90072330" "subst" "9.35499E-5" "01943" "GPR98_010301" "g.90072330C>T" "" "" "" "ADGRV1(NM_032119.4):c.12464C>T (p.P4155L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90776513C>T" "" "VUS" "" "0000288705" "0" "30" "5" "90072399" "90072399" "subst" "0.000459458" "01943" "GPR98_010303" "g.90072399G>T" "" "" "" "ADGRV1(NM_032119.4):c.12527+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90776582G>T" "" "likely benign" "" "0000288706" "0" "50" "5" "90074700" "90074700" "subst" "8.16113E-6" "01943" "GPR98_010313" "g.90074700C>T" "" "" "" "ADGRV1(NM_032119.4):c.12868C>T (p.R4290C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90778883C>T" "" "VUS" "" "0000288707" "0" "50" "5" "90074814" "90074814" "subst" "2.44242E-5" "01943" "GPR98_010315" "g.90074814G>A" "" "" "" "ADGRV1(NM_032119.4):c.12982G>A (p.E4328K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90778997G>A" "" "VUS" "" "0000288708" "0" "30" "5" "90083884" "90083884" "subst" "0" "01943" "GPR98_010426" "g.90083884G>A" "" "" "" "ADGRV1(NM_032119.4):c.13654-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90788067G>A" "" "likely benign" "" "0000288709" "0" "30" "5" "89924645" "89924645" "subst" "2.04097E-5" "01943" "GPR98_010039" "g.89924645C>T" "" "" "" "ADGRV1(NM_032119.4):c.1505C>T (p.A502V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90628828C>T" "" "likely benign" "" "0000288710" "0" "50" "5" "90124765" "90124765" "subst" "0" "01943" "GPR98_010352" "g.90124765C>A" "" "" "" "ADGRV1(NM_032119.4):c.16373C>A (p.P5458Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90828948C>A" "" "VUS" "" "0000288711" "0" "50" "5" "90144542" "90144542" "subst" "0.000130006" "01943" "GPR98_010360" "g.90144542G>A" "" "" "" "ADGRV1(NM_032119.4):c.17108G>A (p.R5703H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90848725G>A" "" "VUS" "" "0000288712" "0" "50" "5" "89925235" "89925235" "subst" "0.00028453" "01943" "GPR98_010000" "g.89925235G>T" "" "" "" "ADGRV1(NM_032119.4):c.1718G>T (p.G573V, p.(Gly573Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90629418G>T" "" "VUS" "" "0000288713" "0" "10" "5" "90151589" "90151589" "subst" "0.543465" "01943" "GPR98_010365" "g.90151589G>A" "" "" "" "ADGRV1(NM_032119.4):c.17626G>A (p.V5876I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90855772G>A" "" "benign" "" "0000288714" "0" "50" "5" "90151620" "90151620" "subst" "0.000430893" "01943" "GPR98_010366" "g.90151620C>A" "" "" "" "ADGRV1(NM_032119.4):c.17657C>A (p.A5886D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90855803C>A" "" "VUS" "" "0000288715" "0" "90" "5" "90151631" "90151632" "del" "6.11865E-5" "01943" "GPR98_010367" "g.90151631_90151632del" "" "" "" "ADGRV1(NM_032119.4):c.17668_17669delAT (p.M5890Vfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90855814_90855815del" "" "pathogenic" "" "0000288716" "0" "50" "5" "90151698" "90151698" "subst" "0.000516705" "01943" "GPR98_010368" "g.90151698C>G" "" "" "" "ADGRV1(NM_032119.4):c.17735C>G (p.S5912C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90855881C>G" "" "VUS" "" "0000288717" "0" "50" "5" "89925321" "89925321" "subst" "0.000110279" "01943" "GPR98_010044" "g.89925321G>A" "" "" "" "ADGRV1(NM_032119.4):c.1804G>A (p.A602T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90629504G>A" "" "VUS" "" "0000288718" "0" "50" "5" "90368320" "90368320" "subst" "8.12942E-6" "01943" "GPR98_010381" "g.90368320C>T" "" "" "" "ADGRV1(NM_032119.4):c.18209C>T (p.T6070M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91072503C>T" "" "VUS" "" "0000288719" "0" "30" "5" "89925354" "89925354" "subst" "0.000836638" "01943" "GPR98_010046" "g.89925354C>A" "" "" "" "ADGRV1(NM_032119.4):c.1837C>A (p.Q613K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90629537C>A" "" "likely benign" "" "0000288720" "0" "30" "5" "89940547" "89940547" "subst" "1.2337E-5" "01943" "GPR98_010068" "g.89940547G>A" "" "" "" "ADGRV1(NM_032119.4):c.2759G>A (p.R920Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90644730G>A" "" "likely benign" "" "0000288721" "0" "50" "5" "89943495" "89943495" "subst" "4.47107E-5" "01943" "GPR98_010073" "g.89943495G>A" "" "" "" "ADGRV1(NM_032119.4):c.3203G>A (p.R1068K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90647678G>A" "" "VUS" "" "0000288722" "0" "30" "5" "89943581" "89943581" "subst" "0.00527016" "01943" "GPR98_010078" "g.89943581G>A" "" "" "" "ADGRV1(NM_032119.4):c.3289G>A (p.G1097S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90647764G>A" "" "likely benign" "" "0000288723" "0" "70" "5" "89948189" "89948189" "subst" "0.00183801" "01943" "GPR98_000284" "g.89948189G>A" "" "" "" "ADGRV1(NM_032119.4):c.3443G>A (p.G1148D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90652372G>A" "" "likely pathogenic" "" "0000288725" "0" "50" "5" "89953850" "89953850" "subst" "0.000259981" "01943" "GPR98_010097" "g.89953850G>A" "" "" "" "ADGRV1(NM_032119.4):c.4507G>A (p.A1503T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90658033G>A" "" "VUS" "" "0000288726" "0" "30" "5" "89915006" "89915006" "subst" "7.82323E-5" "01943" "GPR98_010027" "g.89915006C>T" "" "" "" "ADGRV1(NM_032119.4):c.453+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90619189C>T" "" "likely benign" "" "0000288727" "0" "50" "5" "89954001" "89954001" "subst" "8.62433E-5" "01943" "GPR98_010099" "g.89954001G>A" "" "" "" "ADGRV1(NM_032119.4):c.4658G>A (p.R1553H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90658184G>A" "" "VUS" "" "0000288728" "0" "50" "5" "89971071" "89971071" "subst" "8.1602E-6" "01943" "GPR98_010108" "g.89971071T>C" "" "" "" "ADGRV1(NM_032119.4):c.5122T>C (p.F1708L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90675254T>C" "" "VUS" "" "0000288729" "0" "30" "5" "89977125" "89977125" "subst" "0.00509258" "01943" "GPR98_010120" "g.89977125C>T" "" "" "" "ADGRV1(NM_032119.4):c.5525-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90681308C>T" "" "likely benign" "" "0000288730" "0" "10" "5" "89979589" "89979589" "subst" "0.709158" "01943" "GPR98_010128" "g.89979589G>A" "" "" "" "ADGRV1(NM_032119.4):c.5851G>A (p.V1951I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90683772G>A" "" "benign" "" "0000288731" "0" "10" "5" "89979698" "89979698" "subst" "0.363545" "01943" "GPR98_010130" "g.89979698C>T" "" "" "" "ADGRV1(NM_032119.4):c.5960C>T (p.P1987L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90683881C>T" "" "benign" "" "0000288732" "0" "30" "5" "89979871" "89979871" "subst" "0.00433146" "01943" "GPR98_010134" "g.89979871G>A" "" "" "" "ADGRV1(NM_032119.4):c.6133G>A (p.G2045R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90684054G>A" "" "likely benign" "" "0000288733" "0" "50" "5" "89981804" "89981804" "subst" "0" "01943" "GPR98_010147" "g.89981804C>T" "" "" "" "ADGRV1(NM_032119.4):c.6482C>T (p.A2161V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90685987C>T" "" "VUS" "" "0000288734" "0" "30" "5" "89988549" "89988549" "subst" "0.00190183" "01943" "GPR98_010159" "g.89988549G>A" "" "" "" "ADGRV1(NM_032119.4):c.7079G>A (p.R2360H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90692732G>A" "" "likely benign" "" "0000288735" "0" "30" "5" "89989775" "89989775" "subst" "4.10028E-6" "01943" "GPR98_010166" "g.89989775T>C" "" "" "" "ADGRV1(NM_032119.4):c.7202T>C (p.M2401T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90693958T>C" "" "likely benign" "" "0000288736" "0" "30" "5" "89923101" "89923101" "subst" "0.00638071" "01943" "GPR98_010032" "g.89923101G>A" "" "" "" "ADGRV1(NM_032119.4):c.746G>A (p.R249K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90627284G>A" "" "likely benign" "" "0000288737" "0" "30" "5" "89990155" "89990155" "subst" "0.00416253" "01943" "GPR98_000239" "g.89990155C>T" "" "" "" "ADGRV1(NM_032119.4):c.7582C>T (p.P2528S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90694338C>T" "" "likely benign" "" "0000288738" "0" "30" "5" "89990447" "89990447" "subst" "0.00247599" "01943" "GPR98_010173" "g.89990447G>A" "" "" "" "ADGRV1(NM_032119.4):c.7874G>A (p.R2625H), GPR98(NM_032119.3):c.7874G>A (p.(Arg2625His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90694630G>A" "" "likely benign" "" "0000288739" "0" "10" "5" "89990524" "89990524" "subst" "0.0030197" "01943" "GPR98_010174" "g.89990524C>T" "" "" "" "ADGRV1(NM_032119.4):c.7945+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90694707C>T" "" "benign" "" "0000288740" "0" "50" "5" "89923208" "89923208" "subst" "0.000446918" "01943" "GPR98_010033" "g.89923208C>G" "" "" "" "ADGRV1(NM_032119.4):c.853C>G (p.R285G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90627391C>G" "" "VUS" "" "0000288741" "0" "50" "5" "90008115" "90008115" "subst" "0.000102636" "01943" "GPR98_010208" "g.90008115T>G" "" "" "" "ADGRV1(NM_032119.4):c.9054T>G (p.F3018L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90712298T>G" "" "VUS" "" "0000288742" "0" "30" "5" "90012552" "90012552" "subst" "0.000896559" "01943" "GPR98_010216" "g.90012552G>A" "" "" "" "ADGRV1(NM_032119.4):c.9447+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90716735G>A" "" "likely benign" "" "0000288743" "0" "30" "5" "90016778" "90016778" "subst" "0.00909394" "01943" "GPR98_010222" "g.90016778C>T" "" "" "" "ADGRV1(NM_032119.4):c.9650C>T (p.A3217V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90720961C>T" "" "likely benign" "" "0000330458" "0" "50" "5" "89925095" "89925095" "subst" "2.85756E-5" "01804" "GPR98_010041" "g.89925095G>T" "" "" "" "GPR98(NM_032119.3):c.1578G>T (p.(Gln526His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90629278G>T" "" "VUS" "" "0000330459" "0" "50" "5" "89985852" "89985852" "subst" "0" "01804" "GPR98_010151" "g.89985852T>C" "" "" "" "GPR98(NM_032119.3):c.6665T>C (p.(Val2222Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90690035T>C" "" "VUS" "" "0000330460" "0" "50" "5" "90002072" "90002072" "subst" "3.6786E-5" "01804" "GPR98_010189" "g.90002072C>T" "" "" "" "GPR98(NM_032119.3):c.8591C>T (p.(Thr2864Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90706255C>T" "" "VUS" "" "0000330461" "0" "50" "5" "90074869" "90074869" "subst" "0.00187455" "01804" "GPR98_010316" "g.90074869C>T" "" "" "" "ADGRV1(NM_032119.4):c.13037C>T (p.P4346L), GPR98(NM_032119.3):c.13037C>T (p.(Pro4346Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90779052C>T" "" "VUS" "" "0000330463" "0" "50" "5" "90149952" "90149952" "subst" "0.000166746" "01804" "GPR98_010364" "g.90149952A>G" "" "" "" "ADGRV1(NM_032119.4):c.17528A>G (p.Y5843C), GPR98(NM_032119.3):c.17528A>G (p.(Tyr5843Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90854135A>G" "" "VUS" "" "0000338897" "0" "10" "5" "90449031" "90449031" "subst" "0.92516" "02327" "GPR98_010411" "g.90449031T>C" "" "" "" "ADGRV1(NM_032119.4):c.18625-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91153214T>C" "" "benign" "" "0000340549" "0" "10" "5" "90020923" "90020923" "subst" "0.345741" "02327" "GPR98_010398" "g.90020923T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90725106T>G" "" "benign" "" "0000342565" "0" "90" "5" "90006848" "90006848" "subst" "0" "02327" "GPR98_010007" "g.90006848C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90711031C>T" "" "pathogenic" "" "0000342609" "0" "50" "5" "90012539" "90012539" "subst" "0.00028922" "02327" "GPR98_010001" "g.90012539G>A" "" "" "" "ADGRV1(NM_032119.4):c.9440G>A (p.(Arg3147Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90716722G>A" "" "VUS" "" "0000342646" "0" "90" "5" "90020777" "90020777" "subst" "4.19925E-6" "02327" "GPR98_010397" "g.90020777C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90724960C>T" "" "pathogenic" "" "0000342880" "0" "90" "5" "90074406" "90074406" "subst" "0" "02327" "GPR98_010402" "g.90074406C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90778589C>T" "" "pathogenic" "" "0000343675" "0" "10" "5" "89990324" "89990324" "subst" "0.710299" "02327" "GPR98_010170" "g.89990324A>G" "" "" "" "ADGRV1(NM_032119.4):c.7751A>G (p.N2584S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90694507A>G" "" "benign" "" "0000344085" "0" "50" "5" "90055259" "90055259" "subst" "0.00147297" "02327" "GPR98_010399" "g.90055259G>A" "" "" "" "ADGRV1(NM_032119.4):c.11974G>A (p.D3992N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90759442G>A" "" "VUS" "" "0000344511" "0" "90" "5" "89948218" "89948218" "subst" "0" "02327" "GPR98_010393" "g.89948218C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90652401C>T" "" "pathogenic" "" "0000344827" "0" "90" "5" "90070039" "90070039" "subst" "0" "02327" "GPR98_010400" "g.90070039C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90774222C>T" "" "pathogenic" "" "0000345307" "0" "50" "5" "89990440" "89990440" "subst" "0.000101878" "02327" "GPR98_010396" "g.89990440G>A" "" "" "" "ADGRV1(NM_032119.4):c.7867G>A (p.E2623K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90694623G>A" "" "VUS" "" "0000345373" "0" "10" "5" "90024735" "90024735" "subst" "0.750047" "02327" "GPR98_010243" "g.90024735G>A" "" "" "" "ADGRV1(NM_032119.4):c.10411G>A (p.E3471K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90728918G>A" "" "benign" "" "0000345658" "0" "50" "5" "89948189" "89948189" "subst" "0.00183801" "02327" "GPR98_000284" "g.89948189G>A" "" "" "" "ADGRV1(NM_032119.4):c.3443G>A (p.G1148D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90652372G>A" "" "VUS" "" "0000345732" "0" "50" "5" "89949769" "89949769" "subst" "1.28748E-5" "02327" "GPR98_010394" "g.89949769G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90653952G>A" "" "VUS" "" "0000345794" "0" "90" "5" "89971191" "89971191" "subst" "4.06514E-6" "02327" "GPR98_010395" "g.89971191G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90675374G>T" "" "pathogenic" "" "0000346127" "0" "50" "5" "90106258" "90106258" "subst" "0" "02327" "GPR98_010403" "g.90106258G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90810441G>T" "" "VUS" "" "0000346169" "0" "50" "5" "89925235" "89925235" "subst" "0.00028453" "02327" "GPR98_010000" "g.89925235G>T" "" "" "" "ADGRV1(NM_032119.4):c.1718G>T (p.G573V, p.(Gly573Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90629418G>T" "" "VUS" "" "0000347224" "0" "50" "5" "90136481" "90136481" "subst" "0" "02327" "GPR98_010404" "g.90136481G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90840664G>T" "" "VUS" "" "0000347248" "0" "50" "5" "90281183" "90281183" "subst" "0" "02327" "GPR98_010406" "g.90281183T>C" "" "" "" "ADGRV1(NM_032119.4):c.17996T>C (p.L5999P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90985366T>C" "" "VUS" "" "0000347261" "0" "30" "5" "90449159" "90449159" "subst" "0.00153789" "02327" "GPR98_010412" "g.90449159T>G" "" "" "" "ADGRV1(NM_032119.4):c.18746T>G (p.L6249R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91153342T>G" "" "likely benign" "" "0000347869" "0" "90" "5" "90151631" "90151632" "del" "6.11865E-5" "02327" "GPR98_010367" "g.90151631_90151632del" "" "" "" "ADGRV1(NM_032119.4):c.17668_17669delAT (p.M5890Vfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90855814_90855815del" "" "pathogenic" "" "0000347950" "0" "50" "5" "89949499" "89949499" "subst" "0" "02327" "GPR98_010092" "g.89949499T>G" "" "" "" "ADGRV1(NM_032119.4):c.4108T>G (p.F1370V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90653682T>G" "" "VUS" "" "0000348398" "0" "50" "5" "89923409" "89923409" "subst" "2.43817E-5" "02327" "GPR98_010391" "g.89923409C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90627592C>A" "" "VUS" "" "0000348713" "0" "50" "5" "89949605" "89949605" "subst" "0.00115148" "02327" "GPR98_010094" "g.89949605C>T" "" "" "" "ADGRV1(NM_032119.4):c.4214C>T (p.S1405F, p.(Ser1405Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90653788C>T" "" "VUS" "" "0000349219" "0" "90" "5" "89940652" "89940652" "subst" "8.33625E-6" "02327" "GPR98_000267" "g.89940652C>A" "" "" "" "ADGRV1(NM_032119.4):c.2864C>A (p.S955*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90644835C>A" "" "pathogenic" "" "0000349583" "0" "50" "5" "90368409" "90368409" "subst" "0" "02327" "GPR98_010410" "g.90368409A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91072592A>C" "" "VUS" "" "0000350149" "0" "50" "5" "90281317" "90281317" "subst" "0" "02327" "GPR98_010407" "g.90281317T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90985500T>A" "" "VUS" "" "0000351431" "0" "70" "5" "89924378" "89924378" "subst" "4.06928E-6" "02327" "GPR98_010392" "g.89924378G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90628561G>A" "" "likely pathogenic" "" "0000351432" "0" "50" "5" "89925293" "89925293" "subst" "0.0015093" "02327" "GPR98_010043" "g.89925293C>A" "" "" "" "ADGRV1(NM_032119.4):c.1776C>A (p.V592=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90629476C>A" "" "VUS" "" "0000351436" "0" "50" "5" "90073705" "90073705" "subst" "0" "02327" "GPR98_010401" "g.90073705T>G" "" "" "" "ADGRV1(NM_032119.4):c.12528-17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90777888T>G" "" "VUS" "" "0000358163" "3" "90" "8" "90106571" "90106571" "del" "0" "01243" "GPR98_010467" "g.90106571del" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.89094342del" "" "pathogenic" "" "0000372290" "1" "99" "5" "90449145" "90449163" "del" "0" "00110" "GPR98_000001" "g.90449145_90449163del" "0/190 controls" "{PMID:Weston 2004:14740321}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.91153328_91153346del" "" "pathogenic" "" "0000372291" "1" "99" "5" "90449145" "90449163" "del" "0" "00110" "GPR98_000001" "g.90449145_90449163del" "0/190 controls" "{PMID:Weston 2004:14740321}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.91153328_91153346del" "" "pathogenic" "" "0000372292" "1" "99" "5" "90449145" "90449163" "del" "0" "00110" "GPR98_000001" "g.90449145_90449163del" "0/190 controls" "{PMID:Weston 2004:14740321}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.91153328_91153346del" "" "pathogenic" "" "0000372293" "1" "99" "5" "90449145" "90449163" "del" "0" "00110" "GPR98_000001" "g.90449145_90449163del" "0/190 controls" "{PMID:Weston 2004:14740321}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.91153328_91153346del" "" "pathogenic" "" "0000372294" "1" "99" "5" "90004692" "90004692" "del" "0" "00110" "GPR98_000002" "g.90004692del" "0/190 controls" "{PMID:Weston 2004:14740321}" "-NcoI;-BsaJI;-BtgI;-StyI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90708875del" "" "pathogenic" "" "0000372295" "1" "99" "5" "90004692" "90004692" "del" "0" "00110" "GPR98_000002" "g.90004692del" "0/190 controls" "{PMID:Weston 2004:14740321}" "-NcoI;-BsaJI;-BtgI;-StyI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90708875del" "" "pathogenic" "" "0000372296" "1" "99" "5" "90004692" "90004692" "del" "0" "00110" "GPR98_000002" "g.90004692del" "0/190 controls" "{PMID:Weston 2004:14740321}" "-NcoI;-BsaJI;-BtgI;-StyI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90708875del" "" "pathogenic" "" "0000372297" "0" "99" "5" "90004692" "90004692" "del" "0" "02416" "GPR98_000002" "g.90004692del" "" "{PMID:Malm 2010:21174530}" "-NcoI;-BsaJI;-BtgI;-StyI;" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90708875del" "" "pathogenic" "" "0000372298" "0" "99" "5" "90004692" "90004692" "del" "0" "02416" "GPR98_000002" "g.90004692del" "" "{PMID:Malm 2010:21174530}" "-NcoI;-BsaJI;-BtgI;-StyI;" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90708875del" "" "pathogenic" "" "0000372299" "0" "99" "5" "90004692" "90004692" "del" "0" "02416" "GPR98_000002" "g.90004692del" "" "{PMID:Malm 2010:21174530}" "-NcoI;-BsaJI;-BtgI;-StyI;" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90708875del" "" "pathogenic" "" "0000372300" "1" "99" "5" "89986808" "89986808" "subst" "4.87845E-5" "00110" "GPR98_000003" "g.89986808C>T" "0/190 controls" "{PMID:Weston 2004:14740321}" "" "" "heterozygous" "Germline" "" "rs121909762" "0" "" "" "g.90690991C>T" "" "pathogenic" "" "0000372301" "10" "99" "5" "89986808" "89986808" "subst" "4.87845E-5" "00110" "GPR98_000003" "g.89986808C>T" "0/190 controls" "{PMID:Weston 2004:14740321}" "" "" "homozygous" "Germline" "" "rs121909762" "0" "" "" "g.90690991C>T" "" "pathogenic" "" "0000372302" "1" "99" "5" "89986808" "89986808" "subst" "4.87845E-5" "00110" "GPR98_000003" "g.89986808C>T" "0/190 controls" "{PMID:Weston 2004:14740321}" "" "" "heterozygous" "Germline" "" "rs121909762" "0" "" "" "g.90690991C>T" "" "pathogenic" "" "0000372303" "1" "99" "5" "89986808" "89986808" "subst" "4.87845E-5" "00110" "GPR98_000003" "g.89986808C>T" "0/190 controls" "{PMID:Weston 2004:14740321}" "" "" "heterozygous" "Germline" "" "rs121909762" "0" "" "" "g.90690991C>T" "" "pathogenic" "" "0000372304" "1" "99" "5" "89986808" "89986808" "subst" "4.87845E-5" "00110" "GPR98_000003" "g.89986808C>T" "0/190 controls" "{PMID:Weston 2004:14740321}" "" "" "heterozygous" "Germline" "" "rs121909762" "0" "" "" "g.90690991C>T" "" "pathogenic" "" "0000372305" "1" "99" "5" "89986808" "89986808" "subst" "4.87845E-5" "00110" "GPR98_000003" "g.89986808C>T" "0/190 controls" "{PMID:Weston 2004:14740321}" "" "" "heterozygous" "Germline" "" "rs121909762" "0" "" "" "g.90690991C>T" "" "pathogenic" "" "0000372306" "20" "99" "5" "89986808" "89986808" "subst" "4.87845E-5" "00110" "GPR98_000003" "g.89986808C>T" "0/190 controls" "{PMID:Weston 2004:14740321}" "" "" "homozygous" "Germline" "" "rs121909762" "0" "" "" "g.90690991C>T" "" "pathogenic" "" "0000372307" "0" "99" "5" "89986808" "89986808" "subst" "4.87845E-5" "02419" "GPR98_000003" "g.89986808C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+DraI;+MseI;-XmnI;" "" "heterozygous; Pathogenic" "Germline" "" "rs121909762" "0" "" "" "g.90690991C>T" "" "pathogenic" "" "0000372308" "2" "99" "5" "90002194" "90002197" "dup" "0" "00110" "GPR98_000004" "g.90002194_90002197dup" "0/190 controls" "{PMID:Weston 2004:14740321}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90706377_90706380dup" "" "pathogenic" "" "0000372309" "0" "99" "5" "90002194" "90002197" "dup" "0" "00110" "GPR98_000004" "g.90002194_90002197dup" "0/190 controls" "{PMID:Weston 2004:14740321}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90706377_90706380dup" "" "pathogenic" "" "0000372310" "2" "99" "5" "90002194" "90002197" "dup" "0" "00110" "GPR98_000004" "g.90002194_90002197dup" "0/190 controls" "{PMID:Weston 2004:14740321}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90706377_90706380dup" "" "pathogenic" "" "0000372311" "2" "99" "5" "90002194" "90002197" "dup" "0" "00110" "GPR98_000004" "g.90002194_90002197dup" "0/190 controls" "{PMID:Weston 2004:14740321}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90706377_90706380dup" "" "pathogenic" "" "0000372312" "10" "99" "5" "90221274" "90357290" "del" "0" "00110" "GPR98_000005" "g.90221274_90357290del" "" "{PMID:Hilgert 2009:19357116}" "" "17857-39959_18153-10975del" "homozygous\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000372313" "10" "99" "5" "90221274" "90357290" "del" "0" "00110" "GPR98_000005" "g.90221274_90357290del" "" "{PMID:Hilgert 2009:19357116}" "" "17857-39959_18153-10975del" "homozygous\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000372314" "10" "99" "5" "90221274" "90357290" "del" "0" "00110" "GPR98_000005" "g.90221274_90357290del" "" "{PMID:Hilgert 2009:19357116}" "" "17857-39959_18153-10975del" "homozygous\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000372315" "10" "99" "5" "90221274" "90357290" "del" "0" "00110" "GPR98_000005" "g.90221274_90357290del" "" "{PMID:Hilgert 2009:19357116}" "" "17857-39959_18153-10975del" "homozygous\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000372316" "10" "99" "5" "90221274" "90357290" "del" "0" "00110" "GPR98_000005" "g.90221274_90357290del" "" "{PMID:Hilgert 2009:19357116}" "" "17857-39959_18153-10975del" "homozygous\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000372317" "20" "99" "5" "90221274" "90357290" "del" "0" "00110" "GPR98_000005" "g.90221274_90357290del" "" "{PMID:Hilgert 2009:19357116}" "" "17857-39959_18153-10975del" "homozygous\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000372318" "20" "99" "5" "90221274" "90357290" "del" "0" "00110" "GPR98_000005" "g.90221274_90357290del" "" "{PMID:Hilgert 2009:19357116}" "" "17857-39959_18153-10975del" "homozygous\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000372319" "20" "99" "5" "90221274" "90357290" "del" "0" "00110" "GPR98_000005" "g.90221274_90357290del" "" "{PMID:Hilgert 2009:19357116}" "" "17857-39959_18153-10975del" "homozygous\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000372320" "20" "99" "5" "90221274" "90357290" "del" "0" "00110" "GPR98_000005" "g.90221274_90357290del" "" "{PMID:Hilgert 2009:19357116}" "" "17857-39959_18153-10975del" "homozygous\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000372321" "20" "99" "5" "90221274" "90357290" "del" "0" "00110" "GPR98_000005" "g.90221274_90357290del" "" "{PMID:Hilgert 2009:19357116}" "" "17857-39959_18153-10975del" "homozygous\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000372322" "1" "99" "5" "90021400" "90021403" "del" "0" "00110" "GPR98_000006" "g.90021400_90021403del" "0/50 controls" "{PMID:Ebermann 2009:19357117}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90725583_90725586del" "" "pathogenic" "" "0000372323" "0" "99" "5" "90021400" "90021403" "del" "0" "02419" "GPR98_000006" "g.90021400_90021403del" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188III" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90725583_90725586del" "" "pathogenic" "" "0000372324" "0" "99" "5" "90021400" "90021403" "del" "0" "02416" "GPR98_000006" "g.90021400_90021403del" "0/400 controls" "{PMID:Yang 2013:23767834}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.90725583_90725586del" "" "pathogenic" "" "0000372325" "2" "99" "5" "90449059" "90449059" "del" "1.27307E-5" "00110" "GPR98_000007" "g.90449059del" "0/50 controls" "{PMID:Ebermann 2009:19357117}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.91153242del" "" "pathogenic" "" "0000372326" "1" "99" "5" "89938470" "89938482" "del" "0" "00110" "GPR98_000008" "g.89938470_89938482del" "0/50 controls" "{PMID:Ebermann 2009:19357117}" "+ScrFI;+BstNI;+PspGI;+StyD4I;+BssKI;-Hpy188III;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90642653_90642665del" "" "pathogenic" "" "0000372327" "1" "99" "5" "89938470" "89938482" "del" "0" "00110" "GPR98_000008" "g.89938470_89938482del" "0/50 controls" "{PMID:Ebermann 2009:19357117}" "+ScrFI;+BstNI;+PspGI;+StyD4I;+BssKI;-Hpy188III;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90642653_90642665del" "" "pathogenic" "" "0000372328" "2" "99" "5" "89938470" "89938482" "del" "0" "02416" "GPR98_000008" "g.89938470_89938482del" "" "{PMID:Bonnet 2011:21569298}" "+ScrFI;+BstNI;+PspGI;+StyD4I;+BssKI;-Hpy188III;" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90642653_90642665del" "" "pathogenic" "" "0000372329" "1" "99" "5" "89938470" "89938482" "del" "0" "02428" "GPR98_000008" "g.89938470_89938482del" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.90642653_90642665del" "" "pathogenic" "" "0000372330" "2" "99" "5" "89971940" "89971941" "del" "0" "00110" "GPR98_000009" "g.89971940_89971941del" "0/50 controls" "{PMID:Ebermann 2009:19357117}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90676123_90676124del" "" "pathogenic" "" "0000372331" "2" "99" "5" "89971940" "89971941" "del" "0" "00110" "GPR98_000009" "g.89971940_89971941del" "0/50 controls" "{PMID:Ebermann 2009:19357117}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90676123_90676124del" "" "pathogenic" "" "0000372332" "2" "99" "5" "89971940" "89971941" "del" "0" "02428" "GPR98_000009" "g.89971940_89971941del" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.90676123_90676124del" "" "pathogenic" "" "0000372333" "10" "75" "5" "90281318" "90281318" "subst" "0" "00110" "GPR98_000010" "g.90281318A>G" "0/95 controls" "{PMID:Hmani-Aifa 2009:18854872}; USMA-{USMAGPR98Y6044C:} USMA-{MSV3dQ8WXG9p.Tyr6044Cys:}" "+Hpy8I" "" "homozygous" "Germline" "" "rs121909763" "0" "" "" "g.90985501A>G" "" "VUS" "ACMG" "0000372334" "10" "75" "5" "90281318" "90281318" "subst" "0" "00110" "GPR98_000010" "g.90281318A>G" "0/95 controls" "{PMID:Hmani-Aifa 2009:18854872}; USMA-{USMAGPR98Y6044C:} USMA-{MSV3dQ8WXG9p.Tyr6044Cys:}" "+Hpy8I" "" "homozygous" "Germline" "" "rs121909763" "0" "" "" "g.90985501A>G" "" "VUS" "ACMG" "0000372335" "1" "75" "5" "90281318" "90281318" "subst" "0" "00110" "GPR98_000010" "g.90281318A>G" "0/95 controls" "{PMID:Hmani-Aifa 2009:18854872}; USMA-{USMAGPR98Y6044C:} USMA-{MSV3dQ8WXG9p.Tyr6044Cys:}" "+Hpy8I" "" "heterozygous" "Germline" "" "rs121909763" "0" "" "" "g.90985501A>G" "" "VUS" "ACMG" "0000372336" "20" "75" "5" "90281318" "90281318" "subst" "0" "00110" "GPR98_000010" "g.90281318A>G" "0/95 controls" "{PMID:Hmani-Aifa 2009:18854872}; USMA-{USMAGPR98Y6044C:} USMA-{MSV3dQ8WXG9p.Tyr6044Cys:}" "+Hpy8I" "" "homozygous" "Germline" "" "rs121909763" "0" "" "" "g.90985501A>G" "" "VUS" "ACMG" "0000372337" "20" "75" "5" "90281318" "90281318" "subst" "0" "00110" "GPR98_000010" "g.90281318A>G" "0/95 controls" "{PMID:Hmani-Aifa 2009:18854872}; USMA-{USMAGPR98Y6044C:} USMA-{MSV3dQ8WXG9p.Tyr6044Cys:}" "+Hpy8I" "" "homozygous" "Germline" "" "rs121909763" "0" "" "" "g.90985501A>G" "" "VUS" "ACMG" "0000372338" "1" "99" "5" "90001325" "90001325" "subst" "0" "00110" "GPR98_000011" "g.90001325C>A" "0/100 controls" "{PMID:Nakayama 2002:12402266}" "" "Pathogenic - the variant has been described in the MASS1 isoform, nomenclature 7955C>A, p.Ser2652* in exon 33." "heterozygous" "Germline" "" "rs121909761" "0" "" "" "g.90705508C>A" "" "pathogenic" "" "0000372339" "1" "99" "5" "90144571" "90144571" "del" "0" "02416" "GPR98_000012" "g.90144571del" "0/50 controls" "{PMID:Ebermann 2010:20440071}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90848754del" "" "pathogenic" "" "0000372340" "21" "35" "5" "90124769" "90124769" "subst" "0.000964112" "02416" "GPR98_000013" "g.90124769G>T" "0/402 controls" "{PMID:Bonnet 2011:21569298}; USMA-{USMAVLGR1Q5459H:} USMA-{MSV3dQ8WXG9p.Gln5459His:}" "+NlaIII;+FatI;+AflIII;+CviAII;+NspI;+PciI;" "" "heterozygous; Presumably pathogenic" "Germline" "" "" "0" "" "" "g.90828952G>T" "" "likely benign" "ACMG" "0000372341" "20" "35" "5" "90086765" "90086765" "subst" "0" "02416" "GPR98_000014" "g.90086765G>T" "0/446 controls" "{PMID:Bonnet 2011:21569298}; USMA-{USMAVLGR1D4707Y:} USMA-{MSV3dQ8WXG9p.Asp4707Tyr:}" "-BccI" "" "heterozygous; Presumably pathogenic" "Germline" "" "" "0" "" "" "g.90790948G>T" "" "likely benign" "ACMG" "0000372342" "1" "99" "5" "90074793" "90074793" "subst" "0" "02416" "GPR98_000015" "g.90074793G>T" "" "{PMID:Bonnet 2011:21569298}" "-SacI;-BsiHKAI;-BanII;-Eco53kI;-Bsp1286I;" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90778976G>T" "" "pathogenic" "" "0000372343" "21" "99" "5" "89925080" "89925080" "dup" "0" "02416" "GPR98_000016" "g.89925080dup" "" "{PMID:Bonnet 2011:21569298}" "none" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90629263dup" "" "pathogenic" "" "0000372344" "11" "99" "5" "90151631" "90151632" "del" "6.11865E-5" "02416" "GPR98_000017" "g.90151631_90151632del" "" "{PMID:Bonnet 2011:21569298}" "+HpyCH4IV;+BmgBI;+AleI;-NspI;-FatI;-NlaIII;" "" "heterozygous; Pathogenic" "Germline" "" "rs757696771" "0" "" "" "g.90855814_90855815del" "" "pathogenic" "" "0000372345" "0" "99" "5" "90151631" "90151632" "del" "6.11865E-5" "02416" "GPR98_000017" "g.90151631_90151632del" "" "{PMID:Besnard 2012:22147658}" "+HpyCH4IV;+BmgBI;+AleI;-NspI;-FatI;-NlaIII;" "" "heterozygous; Pathogenic" "Germline" "" "rs757696771" "0" "" "" "g.90855814_90855815del" "" "pathogenic" "" "0000372346" "10" "99" "5" "90151631" "90151632" "del" "6.11865E-5" "02428" "GPR98_000017" "g.90151631_90151632del" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "rs757696771" "0" "" "" "g.90855814_90855815del" "" "pathogenic" "" "0000372347" "20" "99" "5" "90151631" "90151632" "del" "6.11865E-5" "02428" "GPR98_000017" "g.90151631_90151632del" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "rs757696771" "0" "" "" "g.90855814_90855815del" "" "pathogenic" "" "0000372348" "10" "99" "5" "90151631" "90151632" "del" "6.11865E-5" "02416" "GPR98_000017" "g.90151631_90151632del" "" "{PMID:Baux, Vaché 2017:29196752}" "+HpyCH4IV;+BmgBI;+AleI;-NspI;-FatI;-NlaIII;" "" "heterozygous" "Germline" "" "rs757696771" "0" "" "" "g.90855814_90855815del" "" "pathogenic" "" "0000372349" "1" "99" "5" "89913748" "89913749" "del" "0" "02416" "GPR98_000018" "g.89913748_89913749del" "" "{PMID:Bonnet 2011:21569298}" "none" "333_334delTT" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90617931_90617932del" "" "pathogenic" "" "0000372350" "2" "75" "5" "90024520" "90024520" "subst" "0" "02416" "GPR98_000019" "g.90024520A>C" "0/306 controls" "{PMID:Bonnet 2011:21569298}; USMA-{USMAVLGR1H3399P:} USMA-{MSV3dQ8WXG9p.His3399Pro:}" "+MnlI;-SfaNI;-HpyCH4V;" "" "heterozygous; Presumably pathogenic" "Germline" "" "" "0" "" "" "g.90728703A>C" "" "VUS" "ACMG" "0000372351" "0" "99" "5" "90073749" "90073750" "del" "0" "02416" "GPR98_000020" "g.90073749_90073750del" "" "{PMID:Bonnet 2011:21569298}" "none" "12552_12553delGG" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90777932_90777933del" "" "pathogenic" "" "0000372352" "1" "99" "5" "90073749" "90073750" "del" "0" "02428" "GPR98_000020" "g.90073749_90073750del" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.90777932_90777933del" "" "pathogenic" "" "0000372353" "0" "35" "5" "90098692" "90098692" "subst" "0.00141472" "02416" "GPR98_000021" "g.90098692A>G" "0/486 controls" "{PMID:Bonnet 2011:21569298}; USMA-{USMAVLGR1N4885S:} USMA-{MSV3dQ8WXG9p.Asn4885Ser:}" "+BsrI;-Tsp509I;" "" "heterozygous; Presumably pathogenic" "Germline" "" "rs61731030" "0" "" "" "g.90802875A>G" "" "likely benign" "ACMG" "0000372354" "0" "35" "5" "89979568" "89979568" "subst" "0.00428387" "02416" "GPR98_000022" "g.89979568G>A" "0/306 controls" "{PMID:Bonnet 2011:21569298}; USMA-{USMAVLGR1D1944N:} USMA-{MSV3dQ8WXG9p.Asp1944Asn:}" "-BsrI;-BslI;" "" "heterozygous; Presumably pathogenic" "Germline" "" "rs41302834" "0" "" "" "g.90683751G>A" "" "likely benign" "ACMG" "0000372355" "0" "11" "5" "89940745" "89940745" "del" "0" "02419" "GPR98_000024" "g.89940745del" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs70999501" "0" "" "" "g.90644928del" "" "benign" "" "0000372356" "0" "11" "5" "89940745" "89940745" "del" "0" "02419" "GPR98_000024" "g.89940745del" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs70999501" "0" "" "" "g.90644928del" "" "benign" "" "0000372357" "0" "11" "5" "89940745" "89940745" "del" "0" "02419" "GPR98_000024" "g.89940745del" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs70999501" "0" "" "" "g.90644928del" "" "benign" "" "0000372358" "0" "11" "5" "89940745" "89940745" "del" "0" "02419" "GPR98_000024" "g.89940745del" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs70999501" "0" "" "" "g.90644928del" "" "benign" "" "0000372359" "0" "11" "5" "89940745" "89940745" "del" "0" "02419" "GPR98_000024" "g.89940745del" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs70999501" "0" "" "" "g.90644928del" "" "benign" "" "0000372360" "0" "11" "5" "89940745" "89940745" "del" "0" "02419" "GPR98_000024" "g.89940745del" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs70999501" "0" "" "" "g.90644928del" "" "benign" "" "0000372361" "0" "11" "5" "89940745" "89940745" "del" "0" "02419" "GPR98_000024" "g.89940745del" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs70999501" "0" "" "" "g.90644928del" "" "benign" "" "0000372362" "0" "11" "5" "89940745" "89940745" "del" "0" "02419" "GPR98_000024" "g.89940745del" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs70999501" "0" "" "" "g.90644928del" "" "benign" "" "0000372363" "0" "11" "5" "89940745" "89940745" "del" "0" "02419" "GPR98_000024" "g.89940745del" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs70999501" "0" "" "" "g.90644928del" "" "benign" "" "0000372364" "0" "11" "5" "89940745" "89940745" "del" "0" "02419" "GPR98_000024" "g.89940745del" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs70999501" "0" "" "" "g.90644928del" "" "benign" "" "0000372365" "0" "11" "5" "89940745" "89940745" "del" "0" "02419" "GPR98_000024" "g.89940745del" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs70999501" "0" "" "" "g.90644928del" "" "benign" "" "0000372366" "0" "11" "5" "89940745" "89940745" "del" "0" "02416" "GPR98_000024" "g.89940745del" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs70999501" "0" "" "" "g.90644928del" "" "benign" "" "0000372367" "0" "11" "5" "90111593" "90111593" "subst" "0.0238812" "02419" "GPR98_000025" "g.90111593T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs41315904" "0" "" "" "g.90815776T>C" "" "benign" "" "0000372368" "0" "11" "5" "90111593" "90111593" "subst" "0.0238812" "02419" "GPR98_000025" "g.90111593T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs41315904" "0" "" "" "g.90815776T>C" "" "benign" "" "0000372369" "0" "11" "5" "90111593" "90111593" "subst" "0.0238812" "02419" "GPR98_000025" "g.90111593T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs41315904" "0" "" "" "g.90815776T>C" "" "benign" "" "0000372370" "0" "11" "5" "90111593" "90111593" "subst" "0.0238812" "02419" "GPR98_000025" "g.90111593T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs41315904" "0" "" "" "g.90815776T>C" "" "benign" "" "0000372371" "0" "11" "5" "90111593" "90111593" "subst" "0.0238812" "02419" "GPR98_000025" "g.90111593T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs41315904" "0" "" "" "g.90815776T>C" "" "benign" "" "0000372372" "0" "15" "5" "89971369" "89971369" "subst" "0" "02419" "GPR98_000026" "g.89971369T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MwoI;+HpyCH4V;+Cac8I;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90675552T>C" "" "benign" "" "0000372373" "0" "15" "5" "89971369" "89971369" "subst" "0" "02419" "GPR98_000026" "g.89971369T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MwoI;+HpyCH4V;+Cac8I;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90675552T>C" "" "benign" "" "0000372374" "0" "15" "5" "89971369" "89971369" "subst" "0" "02419" "GPR98_000026" "g.89971369T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MwoI;+HpyCH4V;+Cac8I;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90675552T>C" "" "benign" "" "0000372375" "0" "15" "5" "89971369" "89971369" "subst" "0" "02419" "GPR98_000026" "g.89971369T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MwoI;+HpyCH4V;+Cac8I;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90675552T>C" "" "benign" "" "0000372376" "0" "15" "5" "89971369" "89971369" "subst" "0" "02419" "GPR98_000026" "g.89971369T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MwoI;+HpyCH4V;+Cac8I;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90675552T>C" "" "benign" "" "0000372377" "0" "15" "5" "89971369" "89971369" "subst" "0" "02419" "GPR98_000026" "g.89971369T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MwoI;+HpyCH4V;+Cac8I;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90675552T>C" "" "benign" "" "0000372378" "0" "15" "5" "89971369" "89971369" "subst" "0" "02419" "GPR98_000026" "g.89971369T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MwoI;+HpyCH4V;+Cac8I;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90675552T>C" "" "benign" "" "0000372379" "0" "15" "5" "90079067" "90079067" "subst" "0.000178875" "02419" "GPR98_000027" "g.90079067A>G" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1H4453R:} USMA-{MSV3dQ8WXG9p.His4453Arg:}" "-FatI;-NlaIII;-CviAII;-HpyCH4V;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90783250A>G" "" "likely benign" "ACMG" "0000372380" "11" "15" "5" "90079067" "90079067" "subst" "0.000178875" "02419" "GPR98_000027" "g.90079067A>G" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1H4453R:} USMA-{MSV3dQ8WXG9p.His4453Arg:}" "-FatI;-NlaIII;-CviAII;-HpyCH4V;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90783250A>G" "" "likely benign" "ACMG" "0000372381" "0" "11" "5" "90103678" "90103678" "subst" "0" "02419" "GPR98_000028" "g.90103678A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs16869151" "0" "" "" "g.90807861A>G" "" "benign" "" "0000372382" "0" "11" "5" "90103678" "90103678" "subst" "0" "02419" "GPR98_000028" "g.90103678A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs16869151" "0" "" "" "g.90807861A>G" "" "benign" "" "0000372383" "10" "11" "5" "90111521" "90111521" "subst" "0.0169905" "02419" "GPR98_000029" "g.90111521A>G" "13/844 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyAV;-MboII;" "" "homozygous; Neutral" "Germline" "" "rs41304884" "0" "" "" "g.90815704A>G" "" "benign" "" "0000372384" "0" "11" "5" "90111521" "90111521" "subst" "0.0169905" "02419" "GPR98_000029" "g.90111521A>G" "13/844 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyAV;-MboII;" "" "heterozygous; Neutral" "Germline" "" "rs41304884" "0" "" "" "g.90815704A>G" "" "benign" "" "0000372385" "10" "11" "5" "90111521" "90111521" "subst" "0.0169905" "02419" "GPR98_000029" "g.90111521A>G" "13/844 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyAV;-MboII;" "" "homozygous; Neutral" "Germline" "" "rs41304884" "0" "" "" "g.90815704A>G" "" "benign" "" "0000372386" "20" "11" "5" "90111521" "90111521" "subst" "0.0169905" "02419" "GPR98_000029" "g.90111521A>G" "13/844 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyAV;-MboII;" "" "homozygous; Neutral" "Germline" "" "rs41304884" "0" "" "" "g.90815704A>G" "" "benign" "" "0000372387" "20" "11" "5" "90111521" "90111521" "subst" "0.0169905" "02419" "GPR98_000029" "g.90111521A>G" "13/844 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyAV;-MboII;" "" "homozygous; Neutral" "Germline" "" "rs41304884" "0" "" "" "g.90815704A>G" "" "benign" "" "0000372388" "10" "11" "5" "90111521" "90111521" "subst" "0.0169905" "02419" "GPR98_000029" "g.90111521A>G" "13/844 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyAV;-MboII;" "" "homozygous; Neutral" "Germline" "" "rs41304884" "0" "" "" "g.90815704A>G" "" "benign" "" "0000372389" "20" "11" "5" "90111521" "90111521" "subst" "0.0169905" "02419" "GPR98_000029" "g.90111521A>G" "13/844 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyAV;-MboII;" "" "homozygous; Neutral" "Germline" "" "rs41304884" "0" "" "" "g.90815704A>G" "" "benign" "" "0000372390" "0" "11" "5" "90111521" "90111521" "subst" "0.0169905" "02419" "GPR98_000029" "g.90111521A>G" "13/844 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyAV;-MboII;" "" "heterozygous; Neutral" "Germline" "" "rs41304884" "0" "" "" "g.90815704A>G" "" "benign" "" "0000372391" "0" "11" "5" "90111521" "90111521" "subst" "0.0169905" "02416" "GPR98_000029" "g.90111521A>G" "" "{PMID:Besnard 2012:22147658}" "+HpyAV;-MboII;" "" "heterozygous" "Germline" "" "rs41304884" "0" "" "" "g.90815704A>G" "" "benign" "" "0000372392" "0" "15" "5" "90159453" "90159453" "subst" "0" "02419" "GPR98_000030" "g.90159453G>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-MnlI;-CviQI;-RsaI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90863636G>T" "" "likely benign" "ACMG" "0000372393" "0" "15" "5" "89985795" "89985795" "subst" "0.00257259" "02419" "GPR98_000031" "g.89985795T>C" "3/876 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1V2203A:} USMA-{MSV3dQ8WXG9p.Val2203Ala:}" "+HinP1I;+FspI;+HhaI;-HpyCH4V;" "" "heterozygous; Neutral" "Germline" "" "" "0" "" "" "g.90689978T>C" "" "likely benign" "ACMG" "0000372394" "0" "11" "5" "89989749" "89989749" "subst" "0.0034714" "02419" "GPR98_000032" "g.89989749C>T" "2/844 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-MmeI" "" "heterozygous; UV1" "Germline" "" "rs111033452" "0" "" "" "g.90693932C>T" "" "benign" "" "0000372395" "11" "11" "5" "89989749" "89989749" "subst" "0.0034714" "02419" "GPR98_000032" "g.89989749C>T" "2/846 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-MmeI" "" "heterozygous; UV1" "Germline" "" "rs111033452" "0" "" "" "g.90693932C>T" "" "benign" "" "0000372396" "0" "11" "5" "89989749" "89989749" "subst" "0.0034714" "02419" "GPR98_000032" "g.89989749C>T" "2/846 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-MmeI" "" "heterozygous; UV1" "Germline" "" "rs111033452" "0" "" "" "g.90693932C>T" "" "benign" "" "0000372397" "0" "11" "5" "90119357" "90119357" "subst" "0.000381841" "02419" "GPR98_000033" "g.90119357A>G" "4/842 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1T5438A:} USMA-{MSV3dQ8WXG9p.Thr5438Ala:}" "+CviKI_1" "" "heterozygous; Neutral" "Germline" "" "" "0" "" "" "g.90823540A>G" "" "benign" "" "0000372398" "0" "15" "5" "90087244" "90087244" "subst" "0" "02419" "GPR98_000035" "g.90087244G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+DraI;+MseI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90791427G>A" "" "likely benign" "ACMG" "0000372399" "0" "15" "5" "89977125" "89977125" "subst" "0.00509258" "02419" "GPR98_000036" "g.89977125C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-FatI;-NlaIII;-CviAII;-XmnI;" "" "heterozygous; UV1" "Germline" "" "rs141528121" "0" "" "" "g.90681308C>T" "" "likely benign" "ACMG" "0000372400" "0" "15" "5" "89977125" "89977125" "subst" "0.00509258" "02416" "GPR98_000036" "g.89977125C>T" "" "{PMID:Besnard 2012:22147658}" "-FatI;-NlaIII;-CviAII;-XmnI;" "" "heterozygous" "Germline" "" "rs141528121" "0" "" "" "g.90681308C>T" "" "likely benign" "ACMG" "0000372401" "0" "15" "5" "89977125" "89977125" "subst" "0.00509258" "02416" "GPR98_000036" "g.89977125C>T" "" "{PMID:Besnard 2012:22147658}" "-FatI;-NlaIII;-CviAII;-XmnI;" "" "heterozygous" "Germline" "" "rs141528121" "0" "" "" "g.90681308C>T" "" "likely benign" "ACMG" "0000372402" "0" "11" "5" "90016778" "90016778" "subst" "0.00909394" "02419" "GPR98_000037" "g.90016778C>T" "7/876 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1A3217V:} USMA-{MSV3dQ8WXG9p.Ala3217Val:}" "-CviKI_1" "" "heterozygous; Neutral" "Germline" "" "rs114137750" "0" "" "" "g.90720961C>T" "" "benign" "" "0000372403" "0" "11" "5" "90016778" "90016778" "subst" "0.00909394" "02419" "GPR98_000037" "g.90016778C>T" "7/876 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1A3217V:} USMA-{MSV3dQ8WXG9p.Ala3217Val:}" "-CviKI_1" "" "heterozygous; Neutral" "Germline" "" "rs114137750" "0" "" "" "g.90720961C>T" "" "benign" "" "0000372404" "20" "11" "5" "90016778" "90016778" "subst" "0.00909394" "02419" "GPR98_000037" "g.90016778C>T" "7/876 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1A3217V:} USMA-{MSV3dQ8WXG9p.Ala3217Val:}" "-CviKI_1" "" "heterozygous; Neutral" "Germline" "" "rs114137750" "0" "" "" "g.90720961C>T" "" "benign" "" "0000372405" "2" "11" "5" "90016778" "90016778" "subst" "0.00909394" "02416" "GPR98_000037" "g.90016778C>T" "" "{PMID:Neveling 2012:22334370}; USMA-{USMAVLGR1A3217V:} USMA-{MSV3dQ8WXG9p.Ala3217Val:}" "-CviKI_1" "" "heterozygous; Neutral" "Germline" "" "rs114137750" "0" "" "" "g.90720961C>T" "" "benign" "" "0000372406" "21" "11" "5" "90106378" "90106378" "subst" "0" "02419" "GPR98_000038" "g.90106378G>A" "3/836 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1G5101R:} USMA-{MSV3dQ8WXG9p.Gly5101Arg:}" "none" "" "heterozygous; Neutral" "Germline" "" "rs41305904" "0" "" "" "g.90810561G>A" "" "benign" "" "0000372407" "21" "11" "5" "90106378" "90106378" "subst" "0" "02419" "GPR98_000038" "g.90106378G>A" "3/836 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1G5101R:} USMA-{MSV3dQ8WXG9p.Gly5101Arg:}" "none" "" "heterozygous; Neutral" "Germline" "" "rs41305904" "0" "" "" "g.90810561G>A" "" "benign" "" "0000372408" "11" "11" "5" "90106378" "90106378" "subst" "0" "02419" "GPR98_000038" "g.90106378G>A" "3/836 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1G5101R:} USMA-{MSV3dQ8WXG9p.Gly5101Arg:}" "none" "" "heterozygous; Neutral" "Germline" "" "rs41305904" "0" "" "" "g.90810561G>A" "" "benign" "" "0000372409" "11" "15" "5" "89940622" "89940622" "subst" "9.39696E-5" "02419" "GPR98_000039" "g.89940622G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1G945E:} USMA-{MSV3dQ8WXG9p.Gly945Glu:}" "+BsmAI;-BsmFI;-BslI;-EcoNI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90644805G>A" "" "likely benign" "ACMG" "0000372410" "0" "15" "5" "89980157" "89980157" "subst" "0" "02419" "GPR98_000040" "g.89980157G>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90684340G>T" "" "likely benign" "ACMG" "0000372411" "0" "15" "5" "90459586" "90459586" "subst" "0.000815223" "02419" "GPR98_000041" "g.90459586A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; UV1" "Germline" "" "rs41305902" "0" "" "" "g.91163769A>G" "" "likely benign" "ACMG" "0000372412" "0" "35" "5" "89949196" "89949196" "subst" "0" "02419" "GPR98_000042" "g.89949196T>C" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1F1269L:} USMA-{MSV3dQ8WXG9p.Phe1269Leu:}" "+MnlI" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90653379T>C" "" "likely benign" "ACMG" "0000372413" "0" "15" "5" "90261421" "90261421" "subst" "0" "02419" "GPR98_000044" "g.90261421A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+CviQI;+RsaI;-Hpy188I;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs80005712" "0" "" "" "g.90965604A>G" "" "likely benign" "ACMG" "0000372414" "0" "15" "5" "90261421" "90261421" "subst" "0" "02419" "GPR98_000044" "g.90261421A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+CviQI;+RsaI;-Hpy188I;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs80005712" "0" "" "" "g.90965604A>G" "" "likely benign" "ACMG" "0000372415" "0" "15" "5" "90261421" "90261421" "subst" "0" "02416" "GPR98_000044" "g.90261421A>G" "" "{PMID:Besnard 2012:22147658}" "+CviQI;+RsaI;-Hpy188I;" "" "heterozygous" "Germline" "" "rs80005712" "0" "" "" "g.90965604A>G" "" "likely benign" "ACMG" "0000372416" "0" "15" "5" "89930940" "89930940" "subst" "0.000284262" "02419" "GPR98_000045" "g.89930940G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1V617M:} USMA-{MSV3dQ8WXG9p.Val617Met:}" "-HpyCH4III" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90635123G>A" "" "likely benign" "ACMG" "0000372417" "21" "15" "5" "89988464" "89988464" "subst" "0.000276204" "02419" "GPR98_000046" "g.89988464A>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1I2332F:} USMA-{MSV3dQ8WXG9p.Ile2332Phe:}" "none" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90692647A>T" "" "likely benign" "ACMG" "0000372418" "0" "15" "5" "89971170" "89971170" "subst" "0.000849614" "02419" "GPR98_000049" "g.89971170T>C" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+CviKI_1" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90675353T>C" "" "likely benign" "ACMG" "0000372419" "11" "15" "5" "89971170" "89971170" "subst" "0.000849614" "02419" "GPR98_000049" "g.89971170T>C" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+CviKI_1" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90675353T>C" "" "likely benign" "ACMG" "0000372420" "11" "15" "5" "89938821" "89938821" "subst" "8.14359E-6" "02419" "GPR98_000050" "g.89938821T>C" "1/832 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1V839A:} USMA-{MSV3dQ8WXG9p.Val839Ala:}" "+BcgI;-BclI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90643004T>C" "" "likely benign" "ACMG" "0000372421" "0" "15" "5" "90016068" "90016068" "subst" "8.02252E-5" "02419" "GPR98_000051" "g.90016068A>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+EarI;+MboII;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90720251A>T" "" "likely benign" "ACMG" "0000372422" "0" "15" "5" "90021169" "90021169" "subst" "0" "02419" "GPR98_000052" "g.90021169A>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90725352A>C" "" "likely benign" "ACMG" "0000372423" "0" "15" "5" "89941916" "89941916" "subst" "0.000348207" "02419" "GPR98_000053" "g.89941916T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90646099T>C" "" "likely benign" "ACMG" "0000372424" "0" "15" "5" "90000146" "90000146" "subst" "0" "02419" "GPR98_000054" "g.90000146G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90704329G>A" "" "likely benign" "ACMG" "0000372425" "0" "15" "5" "90000146" "90000146" "subst" "0" "02419" "GPR98_000054" "g.90000146G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90704329G>A" "" "likely benign" "ACMG" "0000372426" "0" "15" "5" "90106182" "90106182" "subst" "2.03686E-5" "02419" "GPR98_000055" "g.90106182C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyCH4III;+TspRI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90810365C>T" "" "likely benign" "ACMG" "0000372427" "0" "15" "5" "90024584" "90024584" "subst" "0.00147052" "02419" "GPR98_000056" "g.90024584C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-DdeI" "" "heterozygous; UV1" "Germline" "" "rs113938044" "0" "" "" "g.90728767C>T" "" "likely benign" "ACMG" "0000372428" "0" "15" "5" "89980173" "89980173" "subst" "0" "02419" "GPR98_000057" "g.89980173A>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+CviKI_1;+Cac8I;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs111395332" "0" "" "" "g.90684356A>C" "" "likely benign" "ACMG" "0000372429" "10" "11" "5" "90159695" "90159695" "subst" "0.0241031" "02419" "GPR98_000058" "g.90159695T>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; pathogenicity not assessed" "Germline" "" "rs41315920" "0" "" "" "g.90863878T>A" "" "benign" "" "0000372430" "20" "11" "5" "90159695" "90159695" "subst" "0.0241031" "02419" "GPR98_000058" "g.90159695T>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; pathogenicity not assessed" "Germline" "" "rs41315920" "0" "" "" "g.90863878T>A" "" "benign" "" "0000372431" "21" "15" "5" "90281227" "90281227" "subst" "0.000768424" "02419" "GPR98_000059" "g.90281227T>C" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1F6014L:} USMA-{MSV3dQ8WXG9p.Phe6014Leu:}" "none" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90985410T>C" "" "likely benign" "ACMG" "0000372432" "0" "75" "5" "90021012" "90021012" "subst" "2.11376E-5" "02419" "GPR98_000060" "g.90021012G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1S3339N:} USMA-{MSV3dQ8WXG9p.Ser3339Asn:}" "-HpyCH4III;-TspRI;" "" "heterozygous; UV3" "Germline" "" "" "0" "" "" "g.90725195G>A" "" "VUS" "ACMG" "0000372433" "0" "11" "5" "89913740" "89913740" "subst" "0.0054166" "02419" "GPR98_000061" "g.89913740C>T" "2/838 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; UV1" "Germline" "" "rs61753944" "0" "" "" "g.90617923C>T" "" "benign" "" "0000372434" "0" "99" "5" "89986763" "89986763" "subst" "0" "02419" "GPR98_000062" "g.89986763C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "-BspMI;-BfuAI;" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90690946C>T" "" "pathogenic" "" "0000372435" "0" "11" "5" "90012379" "90012379" "subst" "0.0681041" "02419" "GPR98_000063" "g.90012379G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1V3094I:} USMA-{MSV3dQ8WXG9p.Val3094Ile:}" "+BtsCI;+FokI;-HpyCH4IV;" "" "heterozygous; UV1" "Germline" "" "rs13157270" "0" "" "" "g.90716562G>A" "" "benign" "" "0000372436" "0" "11" "5" "90012379" "90012379" "subst" "0.0681041" "02416" "GPR98_000063" "g.90012379G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1V3094I:} USMA-{MSV3dQ8WXG9p.Val3094Ile:}" "+BtsCI;+FokI;-HpyCH4IV;" "" "heterozygous; UV1" "Germline" "" "rs13157270" "0" "" "" "g.90716562G>A" "" "benign" "" "0000372437" "0" "11" "5" "90012379" "90012379" "subst" "0.0681041" "02416" "GPR98_000063" "g.90012379G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V3094I:} USMA-{MSV3dQ8WXG9p.Val3094Ile:}" "+BtsCI;+FokI;-HpyCH4IV;" "" "heterozygous" "Germline" "" "rs13157270" "0" "" "" "g.90716562G>A" "" "benign" "" "0000372438" "0" "11" "5" "90012379" "90012379" "subst" "0.0681041" "02416" "GPR98_000063" "g.90012379G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V3094I:} USMA-{MSV3dQ8WXG9p.Val3094Ile:}" "+BtsCI;+FokI;-HpyCH4IV;" "" "heterozygous; UV1" "Germline" "" "rs13157270" "0" "" "" "g.90716562G>A" "" "benign" "" "0000372439" "0" "15" "5" "90025376" "90025378" "del" "0" "02419" "GPR98_000065" "g.90025376_90025378del" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90729559_90729561del" "" "likely benign" "ACMG" "0000372440" "10" "11" "5" "90049367" "90049367" "subst" "0.0143862" "02419" "GPR98_000066" "g.90049367C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; pathogenicity not assessed" "Germline" "" "rs80057006" "0" "" "" "g.90753550C>T" "" "benign" "" "0000372441" "20" "11" "5" "90049367" "90049367" "subst" "0.0143862" "02419" "GPR98_000066" "g.90049367C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; pathogenicity not assessed" "Germline" "" "rs80057006" "0" "" "" "g.90753550C>T" "" "benign" "" "0000372442" "0" "11" "5" "90049820" "90049820" "subst" "0" "02419" "GPR98_000067" "g.90049820C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+DdeI;-BfaI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs78795514" "0" "" "" "g.90754003C>T" "" "benign" "" "0000372443" "0" "15" "5" "90084197" "90084197" "subst" "0" "02419" "GPR98_000068" "g.90084197G>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs41304888" "0" "" "" "g.90788380G>T" "" "likely benign" "ACMG" "0000372444" "0" "11" "5" "89925388" "89925388" "subst" "0.0170029" "02419" "GPR98_000069" "g.89925388G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs77472411" "0" "" "" "g.90629571G>A" "" "benign" "" "0000372445" "0" "15" "5" "89854796" "89854796" "subst" "0" "02419" "GPR98_000070" "g.89854796A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HgaI;-SfaNI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs41311623" "0" "" "" "g.90558979A>G" "" "likely benign" "ACMG" "0000372446" "0" "11" "5" "89921116" "89921116" "subst" "0" "02419" "GPR98_000071" "g.89921116T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+CviKI_1;-PflFI;-HpyCH4III;-Tth111I;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs41311331" "0" "" "" "g.90625299T>C" "" "benign" "" "0000372447" "0" "11" "5" "89988651" "89988651" "subst" "0.0179491" "02419" "GPR98_000072" "g.89988651G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs73193236" "0" "" "" "g.90692834G>A" "" "benign" "" "0000372448" "0" "11" "5" "89988651" "89988651" "subst" "0.0179491" "02419" "GPR98_000072" "g.89988651G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs73193236" "0" "" "" "g.90692834G>A" "" "benign" "" "0000372449" "0" "11" "5" "89988651" "89988651" "subst" "0.0179491" "02419" "GPR98_000072" "g.89988651G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs73193236" "0" "" "" "g.90692834G>A" "" "benign" "" "0000372450" "0" "11" "5" "89988651" "89988651" "subst" "0.0179491" "02419" "GPR98_000072" "g.89988651G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs73193236" "0" "" "" "g.90692834G>A" "" "benign" "" "0000372451" "0" "15" "5" "89989866" "89989866" "subst" "0.00286096" "02419" "GPR98_000073" "g.89989866C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-BceAI;-BsaJI;-BtgI;" "" "heterozygous; UV1" "Germline" "" "rs77791584" "0" "" "" "g.90694049C>T" "" "likely benign" "ACMG" "0000372452" "0" "15" "5" "89950002" "89950002" "subst" "0" "02419" "GPR98_000074" "g.89950002C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90654185C>T" "" "likely benign" "ACMG" "0000372453" "0" "11" "5" "89933710" "89933710" "subst" "5.69152E-5" "02419" "GPR98_000075" "g.89933710A>G" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1I729V:} USMA-{MSV3dQ8WXG9p.Ile729Val:}" "+HpyCH4III" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90637893A>G" "" "benign" "" "0000372454" "0" "11" "5" "89933710" "89933710" "subst" "5.69152E-5" "02419" "GPR98_000075" "g.89933710A>G" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1I729V:} USMA-{MSV3dQ8WXG9p.Ile729Val:}" "+HpyCH4III" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90637893A>G" "" "benign" "" "0000372455" "0" "15" "5" "89986845" "89986845" "subst" "6.10198E-5" "02419" "GPR98_000076" "g.89986845C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1P2313L:} USMA-{MSV3dQ8WXG9p.Pro2313Leu:}" "+BpmI;-MspI;-HpaII;-BsaWI;-BspEI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90691028C>T" "" "likely benign" "ACMG" "0000372456" "0" "15" "5" "89986845" "89986845" "subst" "6.10198E-5" "02419" "GPR98_000076" "g.89986845C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1P2313L:} USMA-{MSV3dQ8WXG9p.Pro2313Leu:}" "+BpmI;-MspI;-HpaII;-BsaWI;-BspEI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90691028C>T" "" "likely benign" "ACMG" "0000372457" "0" "15" "5" "89971435" "89971435" "subst" "0" "02419" "GPR98_000077" "g.89971435C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90675618C>T" "" "likely benign" "ACMG" "0000372458" "0" "11" "5" "89938423" "89938423" "subst" "0.00587605" "02419" "GPR98_000078" "g.89938423G>A" "2/92 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BspMI;+BfuAI;-FauI;-AciI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs41304890" "0" "" "" "g.90642606G>A" "" "benign" "" "0000372459" "0" "15" "5" "89938869" "89938869" "subst" "0.00595014" "02419" "GPR98_000079" "g.89938869T>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; UV1" "Germline" "" "rs73181640" "0" "" "" "g.90643052T>A" "" "likely benign" "ACMG" "0000372460" "11" "11" "5" "89949651" "89949651" "subst" "0.00556048" "02419" "GPR98_000080" "g.89949651A>G" "7/832 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MnlI;-MboII;" "" "heterozygous; Neutral" "Germline" "" "rs61740119" "0" "" "" "g.90653834A>G" "" "benign" "" "0000372461" "0" "11" "5" "89949651" "89949651" "subst" "0.00556048" "02419" "GPR98_000080" "g.89949651A>G" "7/832 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MnlI;-MboII;" "" "heterozygous; Neutral" "Germline" "" "rs61740119" "0" "" "" "g.90653834A>G" "" "benign" "" "0000372462" "0" "11" "5" "89950454" "89950454" "subst" "0" "02419" "GPR98_000081" "g.89950454C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs73181653" "0" "" "" "g.90654637C>T" "" "benign" "" "0000372463" "0" "11" "5" "89950454" "89950454" "subst" "0" "02419" "GPR98_000081" "g.89950454C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs73181653" "0" "" "" "g.90654637C>T" "" "benign" "" "0000372464" "0" "11" "5" "89950454" "89950454" "subst" "0" "02419" "GPR98_000081" "g.89950454C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs73181653" "0" "" "" "g.90654637C>T" "" "benign" "" "0000372465" "0" "15" "5" "90144736" "90144736" "subst" "0" "02419" "GPR98_000084" "g.90144736T>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MboII;-DdeI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs76005709" "0" "" "" "g.90848919T>G" "" "likely benign" "ACMG" "0000372466" "0" "15" "5" "90144736" "90144736" "subst" "0" "02419" "GPR98_000084" "g.90144736T>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MboII;-DdeI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs76005709" "0" "" "" "g.90848919T>G" "" "likely benign" "ACMG" "0000372467" "0" "15" "5" "90144736" "90144736" "subst" "0" "02419" "GPR98_000084" "g.90144736T>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MboII;-DdeI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs76005709" "0" "" "" "g.90848919T>G" "" "likely benign" "ACMG" "0000372468" "10" "35" "5" "90041511" "90041511" "subst" "8.9597E-5" "02419" "GPR98_000085" "g.90041511C>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1L3625V:} USMA-{MSV3dQ8WXG9p.Leu3625Val:}" "none" "" "homozygous; UV1" "Germline" "" "" "0" "" "" "g.90745694C>G" "" "likely benign" "ACMG" "0000372469" "20" "35" "5" "90041511" "90041511" "subst" "8.9597E-5" "02419" "GPR98_000085" "g.90041511C>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1L3625V:} USMA-{MSV3dQ8WXG9p.Leu3625Val:}" "none" "" "homozygous; UV1" "Germline" "" "" "0" "" "" "g.90745694C>G" "" "likely benign" "ACMG" "0000372470" "0" "15" "5" "89990447" "89990447" "subst" "0.00247599" "02419" "GPR98_000086" "g.89990447G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1R2625H:} USMA-{MSV3dQ8WXG9p.Arg2625His:}" "+NspI;+FatI;+NlaIII;+CviAII;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90694630G>A" "" "likely benign" "ACMG" "0000372471" "21" "15" "5" "89943547" "89943547" "subst" "0.00142756" "02419" "GPR98_000087" "g.89943547T>C" "1/836 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90647730T>C" "" "likely benign" "ACMG" "0000372472" "21" "99" "5" "90087050" "90087050" "subst" "4.094E-6" "02419" "GPR98_000088" "g.90087050C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-BstBI;-TaqI;" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90791233C>T" "" "pathogenic" "" "0000372473" "0" "35" "5" "90020970" "90020970" "subst" "0" "02419" "GPR98_000089" "g.90020970T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1I3325T:} USMA-{MSV3dQ8WXG9p.Ile3325Thr:}" "+Tsp45I" "" "heterozygous; UV2" "Germline" "" "" "0" "" "" "g.90725153T>C" "" "likely benign" "ACMG" "0000372474" "0" "11" "5" "89914925" "89914925" "subst" "0.0307774" "02419" "GPR98_000090" "g.89914925T>G" "2/90 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1L127R:} USMA-{MSV3dQ8WXG9p.Leu127Arg:}" "+HindIII;+AluI;+CviKI_1;" "" "heterozygous; UV1" "Germline" "" "rs41311333" "0" "" "" "g.90619108T>G" "" "benign" "" "0000372475" "0" "11" "5" "89914925" "89914925" "subst" "0.0307774" "02416" "GPR98_000090" "g.89914925T>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1L127R:} USMA-{MSV3dQ8WXG9p.Leu127Arg:}" "+HindIII;+AluI;+CviKI_1;" "" "heterozygous" "Germline" "" "rs41311333" "0" "" "" "g.90619108T>G" "" "benign" "" "0000372476" "0" "35" "5" "89949514" "89949514" "subst" "0" "02419" "GPR98_000091" "g.89949514G>C" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1D1375H:} USMA-{MSV3dQ8WXG9p.Asp1375His:}" "+FatI;+NlaIII;+CviAII;-BtsCI;-FokI;-HpyAV;" "" "heterozygous; UV2" "Germline" "" "" "0" "" "" "g.90653697G>C" "" "likely benign" "ACMG" "0000372477" "0" "11" "5" "90016871" "90016871" "subst" "0.165563" "02419" "GPR98_000092" "g.90016871G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1G3248D:} USMA-{MSV3dQ8WXG9p.Gly3248Asp:}" "none" "" "heterozygous; UV1" "Germline" "" "rs16869032" "0" "" "" "g.90721054G>A" "" "benign" "" "0000372478" "0" "11" "5" "90016871" "90016871" "subst" "0.165563" "02416" "GPR98_000092" "g.90016871G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1G3248D:} USMA-{MSV3dQ8WXG9p.Gly3248Asp:}" "none" "" "heterozygous; UV1" "Germline" "" "rs16869032" "0" "" "" "g.90721054G>A" "" "benign" "" "0000372479" "0" "11" "5" "90016871" "90016871" "subst" "0.165563" "02416" "GPR98_000092" "g.90016871G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1G3248D:} USMA-{MSV3dQ8WXG9p.Gly3248Asp:}" "none" "" "heterozygous; UV1" "Germline" "" "rs16869032" "0" "" "" "g.90721054G>A" "" "benign" "" "0000372480" "0" "11" "5" "90016871" "90016871" "subst" "0.165563" "02416" "GPR98_000092" "g.90016871G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1G3248D:} USMA-{MSV3dQ8WXG9p.Gly3248Asp:}" "none" "" "heterozygous" "Germline" "" "rs16869032" "0" "" "" "g.90721054G>A" "" "benign" "" "0000372481" "0" "11" "5" "90016871" "90016871" "subst" "0.165563" "02416" "GPR98_000092" "g.90016871G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1G3248D:} USMA-{MSV3dQ8WXG9p.Gly3248Asp:}" "none" "" "heterozygous" "Germline" "" "rs16869032" "0" "" "" "g.90721054G>A" "" "benign" "" "0000372482" "10" "11" "5" "90016871" "90016871" "subst" "0.165563" "02416" "GPR98_000092" "g.90016871G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1G3248D:} USMA-{MSV3dQ8WXG9p.Gly3248Asp:}" "none" "" "homozygous" "Germline" "" "rs16869032" "0" "" "" "g.90721054G>A" "" "benign" "" "0000372483" "20" "11" "5" "90016871" "90016871" "subst" "0.165563" "02416" "GPR98_000092" "g.90016871G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1G3248D:} USMA-{MSV3dQ8WXG9p.Gly3248Asp:}" "none" "" "homozygous" "Germline" "" "rs16869032" "0" "" "" "g.90721054G>A" "" "benign" "" "0000372484" "0" "11" "5" "90016871" "90016871" "subst" "0.165563" "02416" "GPR98_000092" "g.90016871G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1G3248D:} USMA-{MSV3dQ8WXG9p.Gly3248Asp:}" "none" "" "heterozygous" "Germline" "" "rs16869032" "0" "" "" "g.90721054G>A" "" "benign" "" "0000372485" "0" "11" "5" "90016871" "90016871" "subst" "0.165563" "02416" "GPR98_000092" "g.90016871G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1G3248D:} USMA-{MSV3dQ8WXG9p.Gly3248Asp:}" "none" "" "heterozygous; non causative" "Germline" "" "rs16869032" "0" "" "" "g.90721054G>A" "" "benign" "" "0000372486" "0" "11" "5" "90016871" "90016871" "subst" "0.165563" "02416" "GPR98_000092" "g.90016871G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1G3248D:} USMA-{MSV3dQ8WXG9p.Gly3248Asp:}" "none" "" "heterozygous; non causative" "Germline" "" "rs16869032" "0" "" "" "g.90721054G>A" "" "benign" "" "0000372487" "11" "15" "5" "89943581" "89943581" "subst" "0.00527016" "02419" "GPR98_000093" "g.89943581G>A" "1/872 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1G1097S:} USMA-{MSV3dQ8WXG9p.Gly1097Ser:}" "none" "" "heterozygous; UV1" "Germline" "" "rs148097083" "0" "" "" "g.90647764G>A" "" "likely benign" "ACMG" "0000372488" "10" "15" "5" "89979523" "89979523" "subst" "0.000687528" "02419" "GPR98_000094" "g.89979523G>T" "2/846 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1A1929S:} USMA-{MSV3dQ8WXG9p.Ala1929Ser:}" "+BanII;+AluI;+CviKI_1;-HinP1I;-HaeII;-HhaI;" "" "heterozygous; UV1" "Germline" "" "rs41311335" "0" "" "" "g.90683706G>T" "" "likely benign" "ACMG" "0000372489" "0" "99" "5" "89981629" "89981629" "subst" "0" "02419" "GPR98_000095" "g.89981629G>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90685812G>T" "" "pathogenic" "" "0000372490" "0" "11" "5" "90086955" "90086955" "subst" "0.00338819" "02419" "GPR98_000096" "g.90086955G>A" "8/874 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1R4770H:} USMA-{MSV3dQ8WXG9p.Arg4770His:}" "+HphI" "" "heterozygous; Neutral" "Germline" "" "rs41304892" "0" "" "" "g.90791138G>A" "" "benign" "" "0000372491" "0" "15" "5" "90015802" "90015802" "subst" "0" "02419" "GPR98_000097" "g.90015802C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90719985C>T" "" "likely benign" "ACMG" "0000372492" "0" "15" "5" "89953661" "89953661" "subst" "0" "02419" "GPR98_000098" "g.89953661G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-HpyCH4IV;-AflIII;-BsaAI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90657844G>A" "" "likely benign" "ACMG" "0000372493" "0" "15" "5" "89953661" "89953661" "subst" "0" "02419" "GPR98_000098" "g.89953661G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-HpyCH4IV;-AflIII;-BsaAI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90657844G>A" "" "likely benign" "ACMG" "0000372494" "11" "11" "5" "89981611" "89981611" "subst" "0.018162" "02419" "GPR98_000099" "g.89981611C>T" "10/842 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1R2097C:} USMA-{MSV3dQ8WXG9p.Arg2097Cys:}" "+FatI;+NlaIII;+CviAII;-HpyCH4IV;-BmgBI;" "" "heterozygous; Neutral" "Germline" "" "rs16868974" "0" "" "" "g.90685794C>T" "" "benign" "" "0000372495" "10" "11" "5" "89981611" "89981611" "subst" "0.018162" "02419" "GPR98_000099" "g.89981611C>T" "10/842 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1R2097C:} USMA-{MSV3dQ8WXG9p.Arg2097Cys:}" "+FatI;+NlaIII;+CviAII;-HpyCH4IV;-BmgBI;" "" "heterozygous; Neutral" "Germline" "" "rs16868974" "0" "" "" "g.90685794C>T" "" "benign" "" "0000372496" "11" "11" "5" "89981611" "89981611" "subst" "0.018162" "02419" "GPR98_000099" "g.89981611C>T" "10/842 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1R2097C:} USMA-{MSV3dQ8WXG9p.Arg2097Cys:}" "+FatI;+NlaIII;+CviAII;-HpyCH4IV;-BmgBI;" "" "heterozygous; Neutral" "Germline" "" "rs16868974" "0" "" "" "g.90685794C>T" "" "benign" "" "0000372497" "0" "75" "5" "90079142" "90079142" "subst" "0" "02419" "GPR98_000100" "g.90079142G>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1S4478I:} USMA-{MSV3dQ8WXG9p.Ser4478Ile:}" "none" "" "heterozygous; UV3" "Germline" "" "" "0" "" "" "g.90783325G>T" "" "VUS" "ACMG" "0000372498" "0" "99" "5" "89938703" "89938703" "subst" "3.32568E-5" "02419" "GPR98_000101" "g.89938703C>T" "1/876 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BclI;-BtsCI;-FokI;-BslI;" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90642886C>T" "" "pathogenic" "" "0000372499" "0" "15" "5" "90449224" "90449224" "subst" "0" "02419" "GPR98_000103" "g.90449224G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.91153407G>A" "" "likely benign" "ACMG" "0000372500" "0" "11" "5" "90459777" "90459777" "subst" "0.0283549" "02419" "GPR98_000104" "g.90459777A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+AluI;+CviKI_1;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs41311627" "0" "" "" "g.91163960A>G" "" "benign" "" "0000372501" "0" "11" "5" "90459777" "90459777" "subst" "0.0283549" "02419" "GPR98_000104" "g.90459777A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+AluI;+CviKI_1;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs41311627" "0" "" "" "g.91163960A>G" "" "benign" "" "0000372502" "0" "11" "5" "90459777" "90459777" "subst" "0.0283549" "02419" "GPR98_000104" "g.90459777A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+AluI;+CviKI_1;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs41311627" "0" "" "" "g.91163960A>G" "" "benign" "" "0000372503" "0" "11" "5" "90459777" "90459777" "subst" "0.0283549" "02419" "GPR98_000104" "g.90459777A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+AluI;+CviKI_1;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs41311627" "0" "" "" "g.91163960A>G" "" "benign" "" "0000372504" "0" "15" "5" "90006695" "90006695" "subst" "0" "02419" "GPR98_000106" "g.90006695A>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-BsrGI" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs62375136" "0" "" "" "g.90710878A>C" "" "likely benign" "ACMG" "0000372505" "0" "15" "5" "90041091" "90041091" "subst" "0.00679798" "02419" "GPR98_000107" "g.90041091A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+TaqI" "" "heterozygous; UV1" "Germline" "" "rs116184119" "0" "" "" "g.90745274A>G" "" "likely benign" "ACMG" "0000372506" "0" "15" "5" "90041091" "90041091" "subst" "0.00679798" "02419" "GPR98_000107" "g.90041091A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+TaqI" "" "heterozygous; UV1" "Germline" "" "rs116184119" "0" "" "" "g.90745274A>G" "" "likely benign" "ACMG" "0000372507" "0" "11" "5" "90041091" "90041091" "subst" "0.00679798" "02416" "GPR98_000107" "g.90041091A>G" "" "{PMID:Besnard 2012:22147658}" "+TaqI" "" "heterozygous" "Germline" "" "rs116184119" "0" "" "" "g.90745274A>G" "" "likely benign" "ACMG" "0000372508" "11" "11" "5" "89981639" "89981639" "subst" "0.00145936" "02419" "GPR98_000108" "g.89981639C>T" "6/874 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1A2106V:} USMA-{MSV3dQ8WXG9p.Ala2106Val:}" "+HpyCH4V;-HinP1I;-FspI;-HhaI;" "" "heterozygous; Neutral" "Germline" "" "" "0" "" "" "g.90685822C>T" "" "benign" "" "0000372509" "0" "15" "5" "90025885" "90025885" "subst" "0" "02419" "GPR98_000109" "g.90025885G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+FatI;+NlaIII;+CviAII;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90730068G>A" "" "likely benign" "ACMG" "0000372510" "0" "11" "5" "90078934" "90078934" "subst" "0.00727519" "02419" "GPR98_000110" "g.90078934A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-MslI;-BstXI;" "" "heterozygous; UV1" "Germline" "" "rs2438358" "0" "" "" "g.90783117A>G" "" "benign" "" "0000372511" "0" "15" "5" "90106420" "90106420" "subst" "0.00043515" "02419" "GPR98_000111" "g.90106420C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Tsp509I;+ApoI;-TfiI;+XbaI;+Hpy188III;+BfaI;" "" "heterozygous; UV1" "Germline" "" "rs41304886" "0" "" "" "g.90810603C>T" "" "likely benign" "ACMG" "0000372512" "0" "15" "5" "90368461" "90368461" "subst" "0" "02419" "GPR98_000112" "g.90368461G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MslI" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs41308242" "0" "" "" "g.91072644G>A" "" "likely benign" "ACMG" "0000372513" "0" "35" "5" "90449159" "90449159" "subst" "0.00153789" "02419" "GPR98_000113" "g.90449159T>G" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1L6249R:} USMA-{MSV3dQ8WXG9p.Leu6249Arg:}" "-TspRI" "" "heterozygous; UV1" "Germline" "" "rs41311625" "0" "" "" "g.91153342T>G" "" "likely benign" "ACMG" "0000372514" "0" "15" "5" "90449304" "90449304" "subst" "0" "02419" "GPR98_000114" "g.90449304A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyCH4III" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.91153487A>G" "" "likely benign" "ACMG" "0000372515" "0" "11" "5" "89854790" "89854790" "subst" "0" "02419" "GPR98_000115" "g.89854790C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+AcuI;+AfeI;-Mnl;- DdeI;-BbvCI;-Bpu10I;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs7706392" "0" "" "" "g.90558973C>T" "" "benign" "" "0000372516" "10" "11" "5" "89990394" "89990394" "subst" "4.06646E-6" "02419" "GPR98_000116" "g.89990394G>A" "3/836 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-AluI;-CviKI_1;" "" "heterozygous; Neutral" "Germline" "" "" "0" "" "" "g.90694577G>A" "" "benign" "" "0000372517" "11" "11" "5" "89938496" "89938496" "subst" "0.000288627" "02419" "GPR98_000117" "g.89938496C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1R762C:} USMA-{MSV3dQ8WXG9p.Arg762Cys:}" "+AluI;-BceAI;" "" "heterozygous; UV1" "Germline" "" "rs41302842" "0" "" "" "g.90642679C>T" "" "benign" "" "0000372518" "0" "11" "5" "89943770" "89943775" "delins" "0" "02419" "GPR98_000118" "g.89943770_89943775delinsGTATA" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy166II;+BstZ17I;+AccI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90647953_90647958delinsGTATA" "" "benign" "" "0000372519" "0" "11" "5" "89943770" "89943775" "delins" "0" "02419" "GPR98_000118" "g.89943770_89943775delinsGTATA" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy166II;+BstZ17I;+AccI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90647953_90647958delinsGTATA" "" "benign" "" "0000372520" "0" "11" "5" "89943770" "89943775" "delins" "0" "02419" "GPR98_000118" "g.89943770_89943775delinsGTATA" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy166II;+BstZ17I;+AccI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90647953_90647958delinsGTATA" "" "benign" "" "0000372521" "0" "11" "5" "89943770" "89943775" "delins" "0" "02419" "GPR98_000118" "g.89943770_89943775delinsGTATA" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy166II;+BstZ17I;+AccI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90647953_90647958delinsGTATA" "" "benign" "" "0000372522" "0" "11" "5" "89943770" "89943775" "delins" "0" "02419" "GPR98_000118" "g.89943770_89943775delinsGTATA" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy166II;+BstZ17I;+AccI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90647953_90647958delinsGTATA" "" "benign" "" "0000372523" "0" "11" "5" "89989752" "89989752" "subst" "0.00836268" "02419" "GPR98_000119" "g.89989752C>T" "13/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-MmeI" "" "heterozygous; Neutral" "Germline" "" "rs111033429" "0" "" "" "g.90693935C>T" "" "benign" "" "0000372524" "0" "11" "5" "89989752" "89989752" "subst" "0.00836268" "02419" "GPR98_000119" "g.89989752C>T" "13/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-MmeI" "" "heterozygous; Neutral" "Germline" "" "rs111033429" "0" "" "" "g.90693935C>T" "" "benign" "" "0000372525" "0" "11" "5" "89989752" "89989752" "subst" "0.00836268" "02419" "GPR98_000119" "g.89989752C>T" "13/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-MmeI" "" "heterozygous; Neutral" "Germline" "" "rs111033429" "0" "" "" "g.90693935C>T" "" "benign" "" "0000372526" "0" "11" "5" "89989752" "89989752" "subst" "0.00836268" "02416" "GPR98_000119" "g.89989752C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "-MmeI" "" "heterozygous; Neutral" "Germline" "" "rs111033429" "0" "" "" "g.90693935C>T" "" "benign" "" "0000372527" "0" "35" "5" "89949605" "89949605" "subst" "0.00115148" "02419" "GPR98_000120" "g.89949605C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-NlaIV" "" "heterozygous; UV1" "Germline" "" "rs41305898" "0" "" "" "g.90653788C>T" "" "likely benign" "ACMG" "0000372528" "0" "99" "5" "90106221" "90106221" "del" "0" "02419" "GPR98_000121" "g.90106221del" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+PhoI;+HaeIII;+HpyAV;-MwoI;-HinP1I;-HaeII;" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90810404del" "" "pathogenic" "" "0000372529" "0" "99" "5" "89988432" "89988433" "del" "0" "02419" "GPR98_000122" "g.89988432_89988433del" "" "{PMID:Le Quesne Stabej 2012:22135276}" "-HpyCH4V" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90692615_90692616del" "" "pathogenic" "" "0000372530" "11" "15" "5" "90103438" "90103438" "subst" "6.52497E-5" "02419" "GPR98_000124" "g.90103438C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+NcoI;+FatI;+NlaIII;+CviAII;+StyI;-HpyCH4III;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90807621C>T" "" "likely benign" "ACMG" "0000372531" "11" "15" "5" "89970045" "89970045" "subst" "0.00014555" "02419" "GPR98_000125" "g.89970045C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1P1702S:} USMA-{MSV3dQ8WXG9p.Pro1702Ser:}" "-BtsCI;-FokI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90674228C>T" "" "likely benign" "ACMG" "0000372532" "11" "15" "5" "89949366" "89949366" "subst" "0" "02419" "GPR98_000126" "g.89949366G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-BtsCI;-FokI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90653549G>A" "" "likely benign" "ACMG" "0000372533" "0" "15" "5" "90111600" "90111600" "subst" "0.000451331" "02419" "GPR98_000128" "g.90111600G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-CviQI;-BsrGI;-RsaI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs41311621" "0" "" "" "g.90815783G>A" "" "likely benign" "ACMG" "0000372534" "0" "15" "5" "90398215" "90398215" "subst" "0" "02419" "GPR98_000129" "g.90398215T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.91102398T>C" "" "likely benign" "ACMG" "0000372535" "0" "15" "5" "90084192" "90084192" "subst" "0" "02419" "GPR98_000130" "g.90084192C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90788375C>T" "" "likely benign" "ACMG" "0000372536" "0" "11" "5" "89981640" "89981640" "subst" "0.00385984" "02419" "GPR98_000131" "g.89981640G>A" "6/874 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyCH4V;-HinP1I;-FspI;-HhaI;" "" "heterozygous; Neutral" "Germline" "" "" "0" "" "" "g.90685823G>A" "" "benign" "" "0000372537" "10" "35" "5" "90281213" "90281213" "subst" "2.84791E-5" "02419" "GPR98_000132" "g.90281213G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1R6009Q:} USMA-{MSV3dQ8WXG9p.Arg6009Gln:}" "+BstAPI;-EcoRV;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90985396G>A" "" "likely benign" "ACMG" "0000372538" "0" "15" "5" "89949016" "89949016" "subst" "0" "02419" "GPR98_000133" "g.89949016C>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90653199C>A" "" "likely benign" "ACMG" "0000372539" "0" "15" "5" "89992710" "89992710" "subst" "0.00220378" "02419" "GPR98_000134" "g.89992710G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-HphI" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90696893G>A" "" "likely benign" "ACMG" "0000372540" "10" "15" "5" "90041565" "90041565" "subst" "8.15474E-6" "02419" "GPR98_000135" "g.90041565A>G" "1/874 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1T3643A:} USMA-{MSV3dQ8WXG9p.Thr3643Ala:}" "+CviKI_1" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.90745748A>G" "" "likely benign" "ACMG" "0000372541" "0" "15" "5" "90459976" "90459976" "subst" "0.00389137" "02419" "GPR98_000136" "g.90459976A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-BtsCI;-FokI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs147905321" "0" "" "" "g.91164159A>G" "" "likely benign" "ACMG" "0000372542" "0" "11" "5" "89986519" "89986519" "subst" "0" "02419" "GPR98_000137" "g.89986519G>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+FauI;+AciI;+BlpI;-Bpu10I;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs73193232" "0" "" "" "g.90690702G>C" "" "benign" "" "0000372543" "0" "11" "5" "89986519" "89986519" "subst" "0" "02419" "GPR98_000137" "g.89986519G>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+FauI;+AciI;+BlpI;-Bpu10I;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs73193232" "0" "" "" "g.90690702G>C" "" "benign" "" "0000372544" "10" "15" "5" "90398024" "90398028" "del" "0" "02419" "GPR98_000138" "g.90398024_90398028delTTTT" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; UV1\r\nVariant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000372545" "20" "15" "5" "90398024" "90398028" "del" "0" "02419" "GPR98_000138" "g.90398024_90398028delTTTT" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; UV1\r\nVariant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000372546" "0" "99" "5" "90041049" "90041050" "del" "0" "02419" "GPR98_000139" "g.90041049_90041050del" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+CviQI;+RsaI;-BmtI;-CviKI_1;-NheI;-Cac8I;" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90745232_90745233del" "" "pathogenic" "" "0000372547" "0" "11" "5" "89979750" "89979750" "subst" "0.197842" "02419" "GPR98_000141" "g.89979750G>T" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1L2004F:} USMA-{MSV3dQ8WXG9p.Leu2004Phe:}" "+DraI;+MseI;" "" "heterozygous; UV1" "Germline" "" "rs16868972" "0" "" "" "g.90683933G>T" "" "benign" "" "0000372548" "0" "11" "5" "89979750" "89979750" "subst" "0.197842" "02416" "GPR98_000141" "g.89979750G>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1L2004F:} USMA-{MSV3dQ8WXG9p.Leu2004Phe:}" "+DraI;+MseI;" "" "heterozygous" "Germline" "" "rs16868972" "0" "" "" "g.90683933G>T" "" "benign" "" "0000372549" "0" "11" "5" "89979750" "89979750" "subst" "0.197842" "02416" "GPR98_000141" "g.89979750G>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1L2004F:} USMA-{MSV3dQ8WXG9p.Leu2004Phe:}" "+DraI;+MseI;" "" "heterozygous" "Germline" "" "rs16868972" "0" "" "" "g.90683933G>T" "" "benign" "" "0000372550" "0" "11" "5" "89979750" "89979750" "subst" "0.197842" "02416" "GPR98_000141" "g.89979750G>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1L2004F:} USMA-{MSV3dQ8WXG9p.Leu2004Phe:}" "+DraI;+MseI;" "" "heterozygous" "Germline" "" "rs16868972" "0" "" "" "g.90683933G>T" "" "benign" "" "0000372551" "10" "11" "5" "89979750" "89979750" "subst" "0.197842" "02416" "GPR98_000141" "g.89979750G>T" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1L2004F:} USMA-{MSV3dQ8WXG9p.Leu2004Phe:}" "+DraI;+MseI;" "" "homozygous" "Germline" "" "rs16868972" "0" "" "" "g.90683933G>T" "" "benign" "" "0000372552" "20" "11" "5" "89979750" "89979750" "subst" "0.197842" "02416" "GPR98_000141" "g.89979750G>T" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1L2004F:} USMA-{MSV3dQ8WXG9p.Leu2004Phe:}" "+DraI;+MseI;" "" "homozygous" "Germline" "" "rs16868972" "0" "" "" "g.90683933G>T" "" "benign" "" "0000372553" "0" "11" "5" "89979750" "89979750" "subst" "0.197842" "02416" "GPR98_000141" "g.89979750G>T" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1L2004F:} USMA-{MSV3dQ8WXG9p.Leu2004Phe:}" "+DraI;+MseI;" "" "heterozygous" "Germline" "" "rs16868972" "0" "" "" "g.90683933G>T" "" "benign" "" "0000372554" "0" "11" "5" "89979750" "89979750" "subst" "0.197842" "02416" "GPR98_000141" "g.89979750G>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1L2004F:} USMA-{MSV3dQ8WXG9p.Leu2004Phe:}" "+DraI;+MseI;" "" "heterozygous; non causative" "Germline" "" "rs16868972" "0" "" "" "g.90683933G>T" "" "benign" "" "0000372555" "0" "11" "5" "89979750" "89979750" "subst" "0.197842" "02416" "GPR98_000141" "g.89979750G>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1L2004F:} USMA-{MSV3dQ8WXG9p.Leu2004Phe:}" "+DraI;+MseI;" "" "heterozygous; non causative" "Germline" "" "rs16868972" "0" "" "" "g.90683933G>T" "" "benign" "" "0000372556" "11" "15" "5" "89985882" "89985882" "subst" "0.364431" "02419" "GPR98_000142" "g.89985882A>G" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1Y2232C:} USMA-{MSV3dQ8WXG9p.Tyr2232Cys:}" "none" "" "heterozygous; UV1" "Germline" "" "rs10037067" "0" "" "" "g.90690065A>G" "" "benign" "" "0000372557" "0" "11" "5" "89985882" "89985882" "subst" "0.364431" "02416" "GPR98_000142" "g.89985882A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1Y2232C:} USMA-{MSV3dQ8WXG9p.Tyr2232Cys:}" "none" "" "heterozygous" "Germline" "" "rs10037067" "0" "" "" "g.90690065A>G" "" "benign" "" "0000372558" "0" "11" "5" "89985882" "89985882" "subst" "0.364431" "02416" "GPR98_000142" "g.89985882A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1Y2232C:} USMA-{MSV3dQ8WXG9p.Tyr2232Cys:}" "none" "" "heterozygous" "Germline" "" "rs10037067" "0" "" "" "g.90690065A>G" "" "benign" "" "0000372559" "0" "11" "5" "89985882" "89985882" "subst" "0.364431" "02416" "GPR98_000142" "g.89985882A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1Y2232C:} USMA-{MSV3dQ8WXG9p.Tyr2232Cys:}" "none" "" "heterozygous" "Germline" "" "rs10037067" "0" "" "" "g.90690065A>G" "" "benign" "" "0000372560" "0" "11" "5" "89985882" "89985882" "subst" "0.364431" "02416" "GPR98_000142" "g.89985882A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1Y2232C:} USMA-{MSV3dQ8WXG9p.Tyr2232Cys:}" "none" "" "heterozygous" "Germline" "" "rs10037067" "0" "" "" "g.90690065A>G" "" "benign" "" "0000372561" "10" "11" "5" "89985882" "89985882" "subst" "0.364431" "02416" "GPR98_000142" "g.89985882A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1Y2232C:} USMA-{MSV3dQ8WXG9p.Tyr2232Cys:}" "none" "" "homozygous" "Germline" "" "rs10037067" "0" "" "" "g.90690065A>G" "" "benign" "" "0000372562" "20" "11" "5" "89985882" "89985882" "subst" "0.364431" "02416" "GPR98_000142" "g.89985882A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1Y2232C:} USMA-{MSV3dQ8WXG9p.Tyr2232Cys:}" "none" "" "homozygous" "Germline" "" "rs10037067" "0" "" "" "g.90690065A>G" "" "benign" "" "0000372563" "0" "11" "5" "89985882" "89985882" "subst" "0.364431" "02416" "GPR98_000142" "g.89985882A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1Y2232C:} USMA-{MSV3dQ8WXG9p.Tyr2232Cys:}" "none" "" "heterozygous" "Germline" "" "rs10037067" "0" "" "" "g.90690065A>G" "" "benign" "" "0000372564" "10" "11" "5" "89985882" "89985882" "subst" "0.364431" "02416" "GPR98_000142" "g.89985882A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1Y2232C:} USMA-{MSV3dQ8WXG9p.Tyr2232Cys:}" "none" "" "homozygous" "Germline" "" "rs10037067" "0" "" "" "g.90690065A>G" "" "benign" "" "0000372565" "20" "11" "5" "89985882" "89985882" "subst" "0.364431" "02416" "GPR98_000142" "g.89985882A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1Y2232C:} USMA-{MSV3dQ8WXG9p.Tyr2232Cys:}" "none" "" "homozygous" "Germline" "" "rs10037067" "0" "" "" "g.90690065A>G" "" "benign" "" "0000372566" "0" "11" "5" "89985882" "89985882" "subst" "0.364431" "02416" "GPR98_000142" "g.89985882A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1Y2232C:} USMA-{MSV3dQ8WXG9p.Tyr2232Cys:}" "none" "" "heterozygous" "Germline" "" "rs10037067" "0" "" "" "g.90690065A>G" "" "benign" "" "0000372567" "0" "11" "5" "89985882" "89985882" "subst" "0.364431" "02416" "GPR98_000142" "g.89985882A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1Y2232C:} USMA-{MSV3dQ8WXG9p.Tyr2232Cys:}" "none" "" "heterozygous; non causative" "Germline" "" "rs10037067" "0" "" "" "g.90690065A>G" "" "benign" "" "0000372568" "10" "11" "5" "89985882" "89985882" "subst" "0.364431" "02416" "GPR98_000142" "g.89985882A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1Y2232C:} USMA-{MSV3dQ8WXG9p.Tyr2232Cys:}" "none" "" "homozygous; non causative" "Germline" "" "rs10037067" "0" "" "" "g.90690065A>G" "" "benign" "" "0000372569" "20" "11" "5" "89985882" "89985882" "subst" "0.364431" "02416" "GPR98_000142" "g.89985882A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1Y2232C:} USMA-{MSV3dQ8WXG9p.Tyr2232Cys:}" "none" "" "homozygous; non causative" "Germline" "" "rs10037067" "0" "" "" "g.90690065A>G" "" "benign" "" "0000372570" "0" "11" "5" "89985882" "89985882" "subst" "0.364431" "02416" "GPR98_000142" "g.89985882A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1Y2232C:} USMA-{MSV3dQ8WXG9p.Tyr2232Cys:}" "none" "" "heterozygous; non causative" "Germline" "" "rs10037067" "0" "" "" "g.90690065A>G" "" "benign" "" "0000372571" "10" "11" "5" "90052289" "90052289" "subst" "0.343995" "02419" "GPR98_000143" "g.90052289G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1E3867K:} USMA-{MSV3dQ8WXG9p.Glu3867Lys:}" "-MnlI" "" "homozygous; UV1" "Germline" "" "rs10062026" "0" "" "" "g.90756472G>A" "" "benign" "" "0000372572" "20" "11" "5" "90052289" "90052289" "subst" "0.343995" "02419" "GPR98_000143" "g.90052289G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1E3867K:} USMA-{MSV3dQ8WXG9p.Glu3867Lys:}" "-MnlI" "" "homozygous; UV1" "Germline" "" "rs10062026" "0" "" "" "g.90756472G>A" "" "benign" "" "0000372573" "0" "11" "5" "90052289" "90052289" "subst" "0.343995" "02416" "GPR98_000143" "g.90052289G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1E3867K:} USMA-{MSV3dQ8WXG9p.Glu3867Lys:}" "-MnlI" "" "heterozygous; UV1" "Germline" "" "rs10062026" "0" "" "" "g.90756472G>A" "" "benign" "" "0000372574" "0" "11" "5" "90052289" "90052289" "subst" "0.343995" "02416" "GPR98_000143" "g.90052289G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1E3867K:} USMA-{MSV3dQ8WXG9p.Glu3867Lys:}" "-MnlI" "" "heterozygous; UV1" "Germline" "" "rs10062026" "0" "" "" "g.90756472G>A" "" "benign" "" "0000372575" "0" "11" "5" "90052289" "90052289" "subst" "0.343995" "02416" "GPR98_000143" "g.90052289G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E3867K:} USMA-{MSV3dQ8WXG9p.Glu3867Lys:}" "-MnlI" "" "heterozygous" "Germline" "" "rs10062026" "0" "" "" "g.90756472G>A" "" "benign" "" "0000372576" "0" "11" "5" "90052289" "90052289" "subst" "0.343995" "02416" "GPR98_000143" "g.90052289G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E3867K:} USMA-{MSV3dQ8WXG9p.Glu3867Lys:}" "-MnlI" "" "heterozygous" "Germline" "" "rs10062026" "0" "" "" "g.90756472G>A" "" "benign" "" "0000372577" "0" "11" "5" "90052289" "90052289" "subst" "0.343995" "02416" "GPR98_000143" "g.90052289G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E3867K:} USMA-{MSV3dQ8WXG9p.Glu3867Lys:}" "-MnlI" "" "heterozygous" "Germline" "" "rs10062026" "0" "" "" "g.90756472G>A" "" "benign" "" "0000372578" "0" "11" "5" "90052289" "90052289" "subst" "0.343995" "02416" "GPR98_000143" "g.90052289G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E3867K:} USMA-{MSV3dQ8WXG9p.Glu3867Lys:}" "-MnlI" "" "heterozygous" "Germline" "" "rs10062026" "0" "" "" "g.90756472G>A" "" "benign" "" "0000372579" "0" "11" "5" "90052289" "90052289" "subst" "0.343995" "02416" "GPR98_000143" "g.90052289G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1E3867K:} USMA-{MSV3dQ8WXG9p.Glu3867Lys:}" "-MnlI" "" "heterozygous; non causative" "Germline" "" "rs10062026" "0" "" "" "g.90756472G>A" "" "benign" "" "0000372580" "10" "11" "5" "90052289" "90052289" "subst" "0.343995" "02416" "GPR98_000143" "g.90052289G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1E3867K:} USMA-{MSV3dQ8WXG9p.Glu3867Lys:}" "-MnlI" "" "homozygous; non causative" "Germline" "" "rs10062026" "0" "" "" "g.90756472G>A" "" "benign" "" "0000372581" "20" "11" "5" "90052289" "90052289" "subst" "0.343995" "02416" "GPR98_000143" "g.90052289G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1E3867K:} USMA-{MSV3dQ8WXG9p.Glu3867Lys:}" "-MnlI" "" "homozygous; non causative" "Germline" "" "rs10062026" "0" "" "" "g.90756472G>A" "" "benign" "" "0000372582" "0" "11" "5" "90052289" "90052289" "subst" "0.343995" "02416" "GPR98_000143" "g.90052289G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1E3867K:} USMA-{MSV3dQ8WXG9p.Glu3867Lys:}" "-MnlI" "" "heterozygous; non causative" "Germline" "" "rs10062026" "0" "" "" "g.90756472G>A" "" "benign" "" "0000372583" "0" "99" "5" "90016041" "90016041" "subst" "1.02894E-5" "02419" "GPR98_000144" "g.90016041G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90720224G>A" "" "pathogenic" "" "0000372584" "0" "15" "5" "90085467" "90085467" "subst" "0" "02419" "GPR98_000145" "g.90085467T>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+ApoI" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.90789650T>A" "" "likely benign" "ACMG" "0000372585" "0" "15" "5" "90085743" "90085743" "subst" "0" "02419" "GPR98_000146" "g.90085743A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-NspI;-FatI;-NlaIII;-CviAII;-HpyCH4V;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs76246653" "0" "" "" "g.90789926A>G" "" "likely benign" "ACMG" "0000372586" "0" "35" "5" "90449195" "90449195" "subst" "1.25099E-5" "02419" "GPR98_000147" "g.90449195T>C" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1L6261S:} USMA-{MSV3dQ8WXG9p.Leu6261Ser:}" "+Tfi;+ HinfI;-MseI" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.91153378T>C" "" "likely benign" "ACMG" "0000372587" "0" "15" "5" "89940513" "89940513" "subst" "0.00370986" "02419" "GPR98_000148" "g.89940513C>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Tsp509I" "" "heterozygous; UV1" "Germline" "" "rs78625945" "0" "" "" "g.90644696C>A" "" "likely benign" "ACMG" "0000372588" "0" "11" "5" "89950743" "89950743" "subst" "0" "02419" "GPR98_000149" "g.89950743T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BsrI;+BmrI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs16868946" "0" "" "" "g.90654926T>C" "" "benign" "" "0000372589" "0" "11" "5" "89971929" "89971929" "subst" "0.00496299" "02419" "GPR98_000150" "g.89971929A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BsaJI" "" "heterozygous; Neutral" "Germline" "" "rs10067298" "0" "" "" "g.90676112A>G" "" "benign" "" "0000372590" "0" "15" "5" "89989802" "89989802" "subst" "0.00498833" "02419" "GPR98_000151" "g.89989802A>G" "1/872 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1Y2410C:} USMA-{MSV3dQ8WXG9p.Tyr2410Cys:}" "none" "" "heterozygous; UV1" "Germline" "" "rs111033430" "0" "" "" "g.90693985A>G" "" "likely benign" "ACMG" "0000372591" "0" "11" "5" "89990149" "89990149" "subst" "0.00479288" "02419" "GPR98_000152" "g.89990149A>G" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAVLGR1I2526V:} USMA-{MSV3dQ8WXG9p.Ile2526Val:}" "+AlwNI" "" "heterozygous; UV1" "Germline" "" "rs75191159" "0" "" "" "g.90694332A>G" "" "benign" "" "0000372592" "0" "15" "5" "90368384" "90368384" "subst" "0.00409356" "02419" "GPR98_000153" "g.90368384A>G" "2/864 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-NdeI" "" "heterozygous; UV1" "Germline" "" "rs148171369" "0" "" "" "g.91072567A>G" "" "likely benign" "ACMG" "0000372593" "10" "11" "5" "89924976" "89924976" "subst" "0" "02416" "GPR98_000154" "g.89924976C>A" "" "{PMID:Besnard 2012:22147658}" "-DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII;" "" "homozygous" "Germline" "" "rs2366771" "0" "" "" "g.90629159C>A" "" "benign" "" "0000372594" "20" "11" "5" "89924976" "89924976" "subst" "0" "02416" "GPR98_000154" "g.89924976C>A" "" "{PMID:Besnard 2012:22147658}" "-DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII;" "" "homozygous" "Germline" "" "rs2366771" "0" "" "" "g.90629159C>A" "" "benign" "" "0000372595" "0" "11" "5" "89924976" "89924976" "subst" "0" "02416" "GPR98_000154" "g.89924976C>A" "" "{PMID:Besnard 2012:22147658}" "-DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII;" "" "heterozygous" "Germline" "" "rs2366771" "0" "" "" "g.90629159C>A" "" "benign" "" "0000372596" "10" "11" "5" "89924976" "89924976" "subst" "0" "02416" "GPR98_000154" "g.89924976C>A" "" "{PMID:Besnard 2012:22147658}" "-DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII;" "" "homozygous" "Germline" "" "rs2366771" "0" "" "" "g.90629159C>A" "" "benign" "" "0000372597" "20" "11" "5" "89924976" "89924976" "subst" "0" "02416" "GPR98_000154" "g.89924976C>A" "" "{PMID:Besnard 2012:22147658}" "-DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII;" "" "homozygous" "Germline" "" "rs2366771" "0" "" "" "g.90629159C>A" "" "benign" "" "0000372598" "0" "11" "5" "89924976" "89924976" "subst" "0" "02416" "GPR98_000154" "g.89924976C>A" "" "{PMID:Besnard 2012:22147658}" "-DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII;" "" "heterozygous" "Germline" "" "rs2366771" "0" "" "" "g.90629159C>A" "" "benign" "" "0000372599" "0" "11" "5" "89924976" "89924976" "subst" "0" "02416" "GPR98_000154" "g.89924976C>A" "" "{PMID:Besnard 2012:22147658}" "-DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII;" "" "heterozygous" "Germline" "" "rs2366771" "0" "" "" "g.90629159C>A" "" "benign" "" "0000372600" "10" "11" "5" "89924976" "89924976" "subst" "0" "02416" "GPR98_000154" "g.89924976C>A" "" "{PMID:Besnard 2012:22147658}" "-DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII;" "" "homozygous" "Germline" "" "rs2366771" "0" "" "" "g.90629159C>A" "" "benign" "" "0000372601" "20" "11" "5" "89924976" "89924976" "subst" "0" "02416" "GPR98_000154" "g.89924976C>A" "" "{PMID:Besnard 2012:22147658}" "-DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII;" "" "homozygous" "Germline" "" "rs2366771" "0" "" "" "g.90629159C>A" "" "benign" "" "0000372602" "10" "11" "5" "89924976" "89924976" "subst" "0" "02416" "GPR98_000154" "g.89924976C>A" "" "{PMID:Besnard 2012:22147658}" "-DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII;" "" "homozygous" "Germline" "" "rs2366771" "0" "" "" "g.90629159C>A" "" "benign" "" "0000372603" "20" "11" "5" "89924976" "89924976" "subst" "0" "02416" "GPR98_000154" "g.89924976C>A" "" "{PMID:Besnard 2012:22147658}" "-DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII;" "" "homozygous" "Germline" "" "rs2366771" "0" "" "" "g.90629159C>A" "" "benign" "" "0000372604" "10" "11" "5" "89924976" "89924976" "subst" "0" "02416" "GPR98_000154" "g.89924976C>A" "" "{PMID:Besnard 2012:22147658}" "-DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII;" "" "homozygous" "Germline" "" "rs2366771" "0" "" "" "g.90629159C>A" "" "benign" "" "0000372605" "20" "11" "5" "89924976" "89924976" "subst" "0" "02416" "GPR98_000154" "g.89924976C>A" "" "{PMID:Besnard 2012:22147658}" "-DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII;" "" "homozygous" "Germline" "" "rs2366771" "0" "" "" "g.90629159C>A" "" "benign" "" "0000372606" "10" "11" "5" "89924976" "89924976" "subst" "0" "02416" "GPR98_000154" "g.89924976C>A" "" "{PMID:Besnard 2012:22147658}" "-DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII;" "" "homozygous" "Germline" "" "rs2366771" "0" "" "" "g.90629159C>A" "" "benign" "" "0000372607" "20" "11" "5" "89924976" "89924976" "subst" "0" "02416" "GPR98_000154" "g.89924976C>A" "" "{PMID:Besnard 2012:22147658}" "-DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII;" "" "homozygous" "Germline" "" "rs2366771" "0" "" "" "g.90629159C>A" "" "benign" "" "0000372608" "10" "11" "5" "89924976" "89924976" "subst" "0" "02416" "GPR98_000154" "g.89924976C>A" "" "{PMID:Besnard 2012:22147658}" "-DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII;" "" "homozygous" "Germline" "" "rs2366771" "0" "" "" "g.90629159C>A" "" "benign" "" "0000372609" "20" "11" "5" "89924976" "89924976" "subst" "0" "02416" "GPR98_000154" "g.89924976C>A" "" "{PMID:Besnard 2012:22147658}" "-DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII;" "" "homozygous" "Germline" "" "rs2366771" "0" "" "" "g.90629159C>A" "" "benign" "" "0000372610" "10" "11" "5" "89924976" "89924976" "subst" "0" "02416" "GPR98_000154" "g.89924976C>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "-DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII;" "" "homozygous" "Germline" "" "rs2366771" "0" "" "" "g.90629159C>A" "" "benign" "" "0000372611" "10" "11" "5" "89924976" "89924976" "subst" "0" "02416" "GPR98_000154" "g.89924976C>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "-DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII;" "" "homozygous" "Germline" "" "rs2366771" "0" "" "" "g.90629159C>A" "" "benign" "" "0000372612" "20" "11" "5" "89924976" "89924976" "subst" "0" "02416" "GPR98_000154" "g.89924976C>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "-DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII;" "" "homozygous" "Germline" "" "rs2366771" "0" "" "" "g.90629159C>A" "" "benign" "" "0000372613" "10" "11" "5" "89924976" "89924976" "subst" "0" "02416" "GPR98_000154" "g.89924976C>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "-DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII;" "" "homozygous" "Germline" "" "rs2366771" "0" "" "" "g.90629159C>A" "" "benign" "" "0000372614" "20" "11" "5" "89924976" "89924976" "subst" "0" "02416" "GPR98_000154" "g.89924976C>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "-DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII;" "" "homozygous" "Germline" "" "rs2366771" "0" "" "" "g.90629159C>A" "" "benign" "" "0000372615" "20" "11" "5" "89924976" "89924976" "subst" "0" "02416" "GPR98_000154" "g.89924976C>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "-DpnI;-BclI;-Sau3AI;-MboI;-BfuCI;-DpnII;" "" "homozygous" "Germline" "" "rs2366771" "0" "" "" "g.90629159C>A" "" "benign" "" "0000372616" "10" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Besnard 2012:22147658}" "-CviQI;-RsaI;" "" "homozygous" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372617" "20" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Besnard 2012:22147658}" "-CviQI;-RsaI;" "" "homozygous" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372618" "0" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Besnard 2012:22147658}" "-CviQI;-RsaI;" "" "heterozygous" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372619" "10" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Besnard 2012:22147658}" "-CviQI;-RsaI;" "" "homozygous" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372620" "20" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Besnard 2012:22147658}" "-CviQI;-RsaI;" "" "homozygous" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372621" "0" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Besnard 2012:22147658}" "-CviQI;-RsaI;" "" "heterozygous" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372622" "0" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Besnard 2012:22147658}" "-CviQI;-RsaI;" "" "heterozygous" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372623" "10" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Besnard 2012:22147658}" "-CviQI;-RsaI;" "" "homozygous" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372624" "20" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Besnard 2012:22147658}" "-CviQI;-RsaI;" "" "homozygous" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372625" "10" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Besnard 2012:22147658}" "-CviQI;-RsaI;" "" "homozygous" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372626" "20" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Besnard 2012:22147658}" "-CviQI;-RsaI;" "" "homozygous" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372627" "10" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Besnard 2012:22147658}" "-CviQI;-RsaI;" "" "homozygous" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372628" "20" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Besnard 2012:22147658}" "-CviQI;-RsaI;" "" "homozygous" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372629" "10" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Besnard 2012:22147658}" "-CviQI;-RsaI;" "" "homozygous" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372630" "20" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Besnard 2012:22147658}" "-CviQI;-RsaI;" "" "homozygous" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372631" "10" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Besnard 2012:22147658}" "-CviQI;-RsaI;" "" "homozygous" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372632" "20" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Besnard 2012:22147658}" "-CviQI;-RsaI;" "" "homozygous" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372633" "10" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "-CviQI;-RsaI;" "" "homozygous" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372634" "20" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "-CviQI;-RsaI;" "" "homozygous" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372635" "10" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "-CviQI;-RsaI;" "" "homozygous" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372636" "20" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "-CviQI;-RsaI;" "" "homozygous" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372637" "10" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "-CviQI;-RsaI;" "" "homozygous" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372638" "20" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "-CviQI;-RsaI;" "" "homozygous" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372639" "10" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Rong 2014:24831256}" "-CviQI;-RsaI;" "" "homozygous; non causative" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372640" "20" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Rong 2014:24831256}" "-CviQI;-RsaI;" "" "homozygous; non causative" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372641" "10" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Rong 2014:24831256}" "-CviQI;-RsaI;" "" "homozygous; non causative" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372642" "20" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Rong 2014:24831256}" "-CviQI;-RsaI;" "" "homozygous; non causative" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372643" "10" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Rong 2014:24831256}" "-CviQI;-RsaI;" "" "homozygous; non causative" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372644" "20" "11" "5" "89938587" "89938587" "subst" "0.732367" "02416" "GPR98_000155" "g.89938587C>T" "" "{PMID:Rong 2014:24831256}" "-CviQI;-RsaI;" "" "homozygous; non causative" "Germline" "" "rs2366773" "0" "" "" "g.90642770C>T" "" "benign" "" "0000372645" "10" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372646" "20" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372647" "0" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "heterozygous" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372648" "10" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372649" "20" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372650" "0" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "heterozygous" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372651" "0" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "heterozygous" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372652" "10" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372653" "20" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372654" "10" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372655" "20" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372656" "10" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372657" "20" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372658" "10" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372659" "20" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372660" "10" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372661" "20" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372662" "10" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372663" "20" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372664" "10" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372665" "20" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372666" "10" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372667" "20" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372668" "0" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "heterozygous; non causative" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372669" "10" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous; non causative" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372670" "20" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous; non causative" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372671" "10" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous; non causative" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372672" "20" "11" "5" "89943571" "89943571" "subst" "0.711032" "02416" "GPR98_000156" "g.89943571G>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1L1093F:} USMA-{MSV3dQ8WXG9p.Leu1093Phe:}" "+MseI;-Hpy188III;-EcoRI;-ApoI;" "" "homozygous; non causative" "Germline" "" "rs2366777" "0" "" "" "g.90647754G>T" "" "benign" "" "0000372673" "21" "95" "5" "89949024" "89949024" "subst" "0" "02416" "GPR98_000157" "g.89949024A>G" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous; UV4" "Germline" "" "" "0" "" "" "g.90653207A>G" "" "likely pathogenic" "ACMG" "0000372674" "10" "11" "5" "89953849" "89953849" "subst" "0.0672274" "02416" "GPR98_000158" "g.89953849C>T" "" "{PMID:Besnard 2012:22147658}" "+HpyCH4V;-FauI;-AciI;" "" "homozygous" "Germline" "" "rs17543819" "0" "" "" "g.90658032C>T" "" "benign" "" "0000372675" "20" "11" "5" "89953849" "89953849" "subst" "0.0672274" "02416" "GPR98_000158" "g.89953849C>T" "" "{PMID:Besnard 2012:22147658}" "+HpyCH4V;-FauI;-AciI;" "" "homozygous" "Germline" "" "rs17543819" "0" "" "" "g.90658032C>T" "" "benign" "" "0000372676" "0" "11" "5" "89953849" "89953849" "subst" "0.0672274" "02416" "GPR98_000158" "g.89953849C>T" "" "{PMID:Besnard 2012:22147658}" "+HpyCH4V;-FauI;-AciI;" "" "heterozygous" "Germline" "" "rs17543819" "0" "" "" "g.90658032C>T" "" "benign" "" "0000372677" "0" "11" "5" "89968626" "89968626" "subst" "0" "02416" "GPR98_000159" "g.89968626A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs1028191" "0" "" "" "g.90672809A>T" "" "benign" "" "0000372678" "10" "11" "5" "89968626" "89968626" "subst" "0" "02416" "GPR98_000159" "g.89968626A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs1028191" "0" "" "" "g.90672809A>T" "" "benign" "" "0000372679" "20" "11" "5" "89968626" "89968626" "subst" "0" "02416" "GPR98_000159" "g.89968626A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs1028191" "0" "" "" "g.90672809A>T" "" "benign" "" "0000372680" "0" "11" "5" "89968626" "89968626" "subst" "0" "02416" "GPR98_000159" "g.89968626A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs1028191" "0" "" "" "g.90672809A>T" "" "benign" "" "0000372681" "10" "11" "5" "89968626" "89968626" "subst" "0" "02416" "GPR98_000159" "g.89968626A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs1028191" "0" "" "" "g.90672809A>T" "" "benign" "" "0000372682" "20" "11" "5" "89968626" "89968626" "subst" "0" "02416" "GPR98_000159" "g.89968626A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs1028191" "0" "" "" "g.90672809A>T" "" "benign" "" "0000372683" "0" "11" "5" "89968626" "89968626" "subst" "0" "02416" "GPR98_000159" "g.89968626A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs1028191" "0" "" "" "g.90672809A>T" "" "benign" "" "0000372684" "10" "11" "5" "89968626" "89968626" "subst" "0" "02416" "GPR98_000159" "g.89968626A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs1028191" "0" "" "" "g.90672809A>T" "" "benign" "" "0000372685" "20" "11" "5" "89968626" "89968626" "subst" "0" "02416" "GPR98_000159" "g.89968626A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs1028191" "0" "" "" "g.90672809A>T" "" "benign" "" "0000372686" "10" "11" "5" "89968626" "89968626" "subst" "0" "02416" "GPR98_000159" "g.89968626A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs1028191" "0" "" "" "g.90672809A>T" "" "benign" "" "0000372687" "20" "11" "5" "89968626" "89968626" "subst" "0" "02416" "GPR98_000159" "g.89968626A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs1028191" "0" "" "" "g.90672809A>T" "" "benign" "" "0000372688" "10" "15" "5" "89968626" "89968626" "subst" "0" "02416" "GPR98_000159" "g.89968626A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs1028191" "0" "" "" "g.90672809A>T" "" "benign" "" "0000372689" "20" "15" "5" "89968626" "89968626" "subst" "0" "02416" "GPR98_000159" "g.89968626A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs1028191" "0" "" "" "g.90672809A>T" "" "benign" "" "0000372690" "10" "11" "5" "89968626" "89968626" "subst" "0" "02416" "GPR98_000159" "g.89968626A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs1028191" "0" "" "" "g.90672809A>T" "" "benign" "" "0000372691" "20" "11" "5" "89968626" "89968626" "subst" "0" "02416" "GPR98_000159" "g.89968626A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs1028191" "0" "" "" "g.90672809A>T" "" "benign" "" "0000372692" "10" "11" "5" "89968626" "89968626" "subst" "0" "02416" "GPR98_000159" "g.89968626A>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs1028191" "0" "" "" "g.90672809A>T" "" "benign" "" "0000372693" "20" "11" "5" "89968626" "89968626" "subst" "0" "02416" "GPR98_000159" "g.89968626A>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs1028191" "0" "" "" "g.90672809A>T" "" "benign" "" "0000372694" "10" "11" "5" "89968626" "89968626" "subst" "0" "02416" "GPR98_000159" "g.89968626A>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs1028191" "0" "" "" "g.90672809A>T" "" "benign" "" "0000372695" "20" "11" "5" "89968626" "89968626" "subst" "0" "02416" "GPR98_000159" "g.89968626A>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs1028191" "0" "" "" "g.90672809A>T" "" "benign" "" "0000372696" "10" "11" "5" "89968626" "89968626" "subst" "0" "02416" "GPR98_000159" "g.89968626A>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs1028191" "0" "" "" "g.90672809A>T" "" "benign" "" "0000372697" "20" "11" "5" "89968626" "89968626" "subst" "0" "02416" "GPR98_000159" "g.89968626A>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs1028191" "0" "" "" "g.90672809A>T" "" "benign" "" "0000372698" "10" "11" "5" "89979518" "89979518" "subst" "0.0714855" "02416" "GPR98_000160" "g.89979518C>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1T1927M:} USMA-{MSV3dQ8WXG9p.Thr1927Met:}" "none" "" "homozygous" "Germline" "" "rs17544552" "0" "" "" "g.90683701C>T" "" "benign" "" "0000372699" "20" "11" "5" "89979518" "89979518" "subst" "0.0714855" "02416" "GPR98_000160" "g.89979518C>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1T1927M:} USMA-{MSV3dQ8WXG9p.Thr1927Met:}" "none" "" "homozygous" "Germline" "" "rs17544552" "0" "" "" "g.90683701C>T" "" "benign" "" "0000372700" "0" "11" "5" "89979518" "89979518" "subst" "0.0714855" "02416" "GPR98_000160" "g.89979518C>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAVLGR1T1927M:} USMA-{MSV3dQ8WXG9p.Thr1927Met:}" "none" "" "heterozygous" "Germline" "" "rs17544552" "0" "" "" "g.90683701C>T" "" "benign" "" "0000372701" "0" "11" "5" "89979518" "89979518" "subst" "0.0714855" "02416" "GPR98_000160" "g.89979518C>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAVLGR1T1927M:} USMA-{MSV3dQ8WXG9p.Thr1927Met:}" "none" "" "heterozygous" "Germline" "" "rs17544552" "0" "" "" "g.90683701C>T" "" "benign" "" "0000372702" "10" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372703" "20" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372704" "10" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372705" "20" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372706" "10" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372707" "20" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372708" "10" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372709" "20" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372710" "10" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372711" "20" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372712" "10" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372713" "20" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372714" "10" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372715" "20" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372716" "10" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372717" "20" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372718" "10" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372719" "20" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372720" "10" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372721" "20" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372722" "0" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "heterozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372723" "0" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "heterozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372724" "0" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "heterozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372725" "0" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "heterozygous" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372726" "0" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "heterozygous; non causative" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372727" "10" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous; non causative" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372728" "20" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous; non causative" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372729" "10" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous; non causative" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372730" "20" "11" "5" "89979589" "89979589" "subst" "0.709158" "02416" "GPR98_000161" "g.89979589G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1V1951I:} USMA-{MSV3dQ8WXG9p.Val1951Ile:}" "none" "" "homozygous; non causative" "Germline" "" "rs4916684" "0" "" "" "g.90683772G>A" "" "benign" "" "0000372731" "10" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372732" "20" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372733" "0" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "heterozygous" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372734" "10" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372735" "20" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372736" "0" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "heterozygous" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372737" "0" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "heterozygous" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372738" "10" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372739" "20" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372740" "10" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372741" "20" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372742" "10" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372743" "20" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372744" "10" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372745" "20" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372746" "10" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372747" "20" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372748" "10" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372749" "20" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372750" "10" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372751" "20" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372752" "10" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372753" "20" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372754" "0" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "heterozygous; non causative" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372755" "10" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous; non causative" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372756" "20" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous; non causative" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372757" "10" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous; non causative" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372758" "20" "11" "5" "89990324" "89990324" "subst" "0.710299" "02416" "GPR98_000162" "g.89990324A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1N2584S:} USMA-{MSV3dQ8WXG9p.Asn2584Ser:}" "+HpyCH4III;+SfcI;-SspI;" "" "homozygous; non causative" "Germline" "" "rs1878878" "0" "" "" "g.90694507A>G" "" "benign" "" "0000372759" "10" "11" "5" "90002293" "90002293" "subst" "0" "02416" "GPR98_000163" "g.90002293A>G" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs77614337" "0" "" "" "g.90706476A>G" "" "benign" "" "0000372760" "20" "11" "5" "90002293" "90002293" "subst" "0" "02416" "GPR98_000163" "g.90002293A>G" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs77614337" "0" "" "" "g.90706476A>G" "" "benign" "" "0000372761" "0" "11" "5" "90002293" "90002293" "subst" "0" "02416" "GPR98_000163" "g.90002293A>G" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs77614337" "0" "" "" "g.90706476A>G" "" "benign" "" "0000372762" "10" "11" "5" "90007196" "90007196" "subst" "0" "02416" "GPR98_000164" "g.90007196C>T" "" "{PMID:Besnard 2012:22147658}" "+Hpy188III" "" "homozygous" "Germline" "" "rs7732169" "0" "" "" "g.90711379C>T" "" "benign" "" "0000372763" "20" "11" "5" "90007196" "90007196" "subst" "0" "02416" "GPR98_000164" "g.90007196C>T" "" "{PMID:Besnard 2012:22147658}" "+Hpy188III" "" "homozygous" "Germline" "" "rs7732169" "0" "" "" "g.90711379C>T" "" "benign" "" "0000372764" "0" "11" "5" "90007196" "90007196" "subst" "0" "02416" "GPR98_000164" "g.90007196C>T" "" "{PMID:Besnard 2012:22147658}" "+Hpy188III" "" "heterozygous" "Germline" "" "rs7732169" "0" "" "" "g.90711379C>T" "" "benign" "" "0000372765" "0" "11" "5" "90007196" "90007196" "subst" "0" "02416" "GPR98_000164" "g.90007196C>T" "" "{PMID:Besnard 2012:22147658}" "+Hpy188III" "" "heterozygous" "Germline" "" "rs7732169" "0" "" "" "g.90711379C>T" "" "benign" "" "0000372766" "10" "11" "5" "90007196" "90007196" "subst" "0" "02416" "GPR98_000164" "g.90007196C>T" "" "{PMID:Besnard 2012:22147658}" "+Hpy188III" "" "homozygous" "Germline" "" "rs7732169" "0" "" "" "g.90711379C>T" "" "benign" "" "0000372767" "20" "11" "5" "90007196" "90007196" "subst" "0" "02416" "GPR98_000164" "g.90007196C>T" "" "{PMID:Besnard 2012:22147658}" "+Hpy188III" "" "homozygous" "Germline" "" "rs7732169" "0" "" "" "g.90711379C>T" "" "benign" "" "0000372768" "10" "11" "5" "90007196" "90007196" "subst" "0" "02416" "GPR98_000164" "g.90007196C>T" "" "{PMID:Besnard 2012:22147658}" "+Hpy188III" "" "homozygous" "Germline" "" "rs7732169" "0" "" "" "g.90711379C>T" "" "benign" "" "0000372769" "20" "11" "5" "90007196" "90007196" "subst" "0" "02416" "GPR98_000164" "g.90007196C>T" "" "{PMID:Besnard 2012:22147658}" "+Hpy188III" "" "homozygous" "Germline" "" "rs7732169" "0" "" "" "g.90711379C>T" "" "benign" "" "0000372770" "10" "11" "5" "90007196" "90007196" "subst" "0" "02416" "GPR98_000164" "g.90007196C>T" "" "{PMID:Besnard 2012:22147658}" "+Hpy188III" "" "homozygous" "Germline" "" "rs7732169" "0" "" "" "g.90711379C>T" "" "benign" "" "0000372771" "20" "11" "5" "90007196" "90007196" "subst" "0" "02416" "GPR98_000164" "g.90007196C>T" "" "{PMID:Besnard 2012:22147658}" "+Hpy188III" "" "homozygous" "Germline" "" "rs7732169" "0" "" "" "g.90711379C>T" "" "benign" "" "0000372772" "10" "11" "5" "90007196" "90007196" "subst" "0" "02416" "GPR98_000164" "g.90007196C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "+Hpy188III" "" "homozygous" "Germline" "" "rs7732169" "0" "" "" "g.90711379C>T" "" "benign" "" "0000372773" "20" "11" "5" "90007196" "90007196" "subst" "0" "02416" "GPR98_000164" "g.90007196C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "+Hpy188III" "" "homozygous" "Germline" "" "rs7732169" "0" "" "" "g.90711379C>T" "" "benign" "" "0000372774" "10" "11" "5" "90007196" "90007196" "subst" "0" "02416" "GPR98_000164" "g.90007196C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "+Hpy188III" "" "homozygous" "Germline" "" "rs7732169" "0" "" "" "g.90711379C>T" "" "benign" "" "0000372775" "20" "11" "5" "90007196" "90007196" "subst" "0" "02416" "GPR98_000164" "g.90007196C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "+Hpy188III" "" "homozygous" "Germline" "" "rs7732169" "0" "" "" "g.90711379C>T" "" "benign" "" "0000372776" "0" "11" "5" "90007196" "90007196" "subst" "0" "02416" "GPR98_000164" "g.90007196C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "+Hpy188III" "" "heterozygous" "Germline" "" "rs7732169" "0" "" "" "g.90711379C>T" "" "benign" "" "0000372777" "10" "11" "5" "90012614" "90012614" "subst" "0" "02416" "GPR98_000165" "g.90012614A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs10067181" "0" "" "" "g.90716797A>T" "" "benign" "" "0000372778" "20" "11" "5" "90012614" "90012614" "subst" "0" "02416" "GPR98_000165" "g.90012614A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs10067181" "0" "" "" "g.90716797A>T" "" "benign" "" "0000372779" "0" "11" "5" "90012614" "90012614" "subst" "0" "02416" "GPR98_000165" "g.90012614A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs10067181" "0" "" "" "g.90716797A>T" "" "benign" "" "0000372780" "0" "11" "5" "90012614" "90012614" "subst" "0" "02416" "GPR98_000165" "g.90012614A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs10067181" "0" "" "" "g.90716797A>T" "" "benign" "" "0000372781" "0" "11" "5" "90012614" "90012614" "subst" "0" "02416" "GPR98_000165" "g.90012614A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs10067181" "0" "" "" "g.90716797A>T" "" "benign" "" "0000372782" "10" "11" "5" "90012614" "90012614" "subst" "0" "02416" "GPR98_000165" "g.90012614A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs10067181" "0" "" "" "g.90716797A>T" "" "benign" "" "0000372783" "20" "11" "5" "90012614" "90012614" "subst" "0" "02416" "GPR98_000165" "g.90012614A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs10067181" "0" "" "" "g.90716797A>T" "" "benign" "" "0000372784" "10" "11" "5" "90012614" "90012614" "subst" "0" "02416" "GPR98_000165" "g.90012614A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs10067181" "0" "" "" "g.90716797A>T" "" "benign" "" "0000372785" "20" "11" "5" "90012614" "90012614" "subst" "0" "02416" "GPR98_000165" "g.90012614A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs10067181" "0" "" "" "g.90716797A>T" "" "benign" "" "0000372786" "10" "11" "5" "90012614" "90012614" "subst" "0" "02416" "GPR98_000165" "g.90012614A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs10067181" "0" "" "" "g.90716797A>T" "" "benign" "" "0000372787" "20" "11" "5" "90012614" "90012614" "subst" "0" "02416" "GPR98_000165" "g.90012614A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs10067181" "0" "" "" "g.90716797A>T" "" "benign" "" "0000372788" "10" "11" "5" "90012614" "90012614" "subst" "0" "02416" "GPR98_000165" "g.90012614A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs10067181" "0" "" "" "g.90716797A>T" "" "benign" "" "0000372789" "20" "11" "5" "90012614" "90012614" "subst" "0" "02416" "GPR98_000165" "g.90012614A>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs10067181" "0" "" "" "g.90716797A>T" "" "benign" "" "0000372790" "0" "11" "5" "90012614" "90012614" "subst" "0" "02416" "GPR98_000165" "g.90012614A>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "heterozygous" "Germline" "" "rs10067181" "0" "" "" "g.90716797A>T" "" "benign" "" "0000372791" "10" "11" "5" "90012614" "90012614" "subst" "0" "02416" "GPR98_000165" "g.90012614A>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs10067181" "0" "" "" "g.90716797A>T" "" "benign" "" "0000372792" "20" "11" "5" "90012614" "90012614" "subst" "0" "02416" "GPR98_000165" "g.90012614A>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs10067181" "0" "" "" "g.90716797A>T" "" "benign" "" "0000372793" "0" "11" "5" "90012614" "90012614" "subst" "0" "02416" "GPR98_000165" "g.90012614A>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "heterozygous" "Germline" "" "rs10067181" "0" "" "" "g.90716797A>T" "" "benign" "" "0000372794" "10" "11" "5" "90015792" "90015792" "subst" "0" "02416" "GPR98_000166" "g.90015792C>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs6881412" "0" "" "" "g.90719975C>T" "" "benign" "" "0000372795" "20" "11" "5" "90015792" "90015792" "subst" "0" "02416" "GPR98_000166" "g.90015792C>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs6881412" "0" "" "" "g.90719975C>T" "" "benign" "" "0000372796" "0" "11" "5" "90015792" "90015792" "subst" "0" "02416" "GPR98_000166" "g.90015792C>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs6881412" "0" "" "" "g.90719975C>T" "" "benign" "" "0000372797" "10" "11" "5" "90015792" "90015792" "subst" "0" "02416" "GPR98_000166" "g.90015792C>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs6881412" "0" "" "" "g.90719975C>T" "" "benign" "" "0000372798" "20" "11" "5" "90015792" "90015792" "subst" "0" "02416" "GPR98_000166" "g.90015792C>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs6881412" "0" "" "" "g.90719975C>T" "" "benign" "" "0000372799" "0" "11" "5" "90015792" "90015792" "subst" "0" "02416" "GPR98_000166" "g.90015792C>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs6881412" "0" "" "" "g.90719975C>T" "" "benign" "" "0000372800" "0" "11" "5" "90015792" "90015792" "subst" "0" "02416" "GPR98_000166" "g.90015792C>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs6881412" "0" "" "" "g.90719975C>T" "" "benign" "" "0000372801" "10" "11" "5" "90015792" "90015792" "subst" "0" "02416" "GPR98_000166" "g.90015792C>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs6881412" "0" "" "" "g.90719975C>T" "" "benign" "" "0000372802" "20" "11" "5" "90015792" "90015792" "subst" "0" "02416" "GPR98_000166" "g.90015792C>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs6881412" "0" "" "" "g.90719975C>T" "" "benign" "" "0000372803" "10" "11" "5" "90015792" "90015792" "subst" "0" "02416" "GPR98_000166" "g.90015792C>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs6881412" "0" "" "" "g.90719975C>T" "" "benign" "" "0000372804" "20" "11" "5" "90015792" "90015792" "subst" "0" "02416" "GPR98_000166" "g.90015792C>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs6881412" "0" "" "" "g.90719975C>T" "" "benign" "" "0000372805" "10" "11" "5" "90015792" "90015792" "subst" "0" "02416" "GPR98_000166" "g.90015792C>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs6881412" "0" "" "" "g.90719975C>T" "" "benign" "" "0000372806" "20" "11" "5" "90015792" "90015792" "subst" "0" "02416" "GPR98_000166" "g.90015792C>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs6881412" "0" "" "" "g.90719975C>T" "" "benign" "" "0000372807" "10" "11" "5" "90015792" "90015792" "subst" "0" "02416" "GPR98_000166" "g.90015792C>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs6881412" "0" "" "" "g.90719975C>T" "" "benign" "" "0000372808" "20" "11" "5" "90015792" "90015792" "subst" "0" "02416" "GPR98_000166" "g.90015792C>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs6881412" "0" "" "" "g.90719975C>T" "" "benign" "" "0000372809" "10" "11" "5" "90015792" "90015792" "subst" "0" "02416" "GPR98_000166" "g.90015792C>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs6881412" "0" "" "" "g.90719975C>T" "" "benign" "" "0000372810" "20" "11" "5" "90015792" "90015792" "subst" "0" "02416" "GPR98_000166" "g.90015792C>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs6881412" "0" "" "" "g.90719975C>T" "" "benign" "" "0000372811" "10" "11" "5" "90015792" "90015792" "subst" "0" "02416" "GPR98_000166" "g.90015792C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs6881412" "0" "" "" "g.90719975C>T" "" "benign" "" "0000372812" "20" "11" "5" "90015792" "90015792" "subst" "0" "02416" "GPR98_000166" "g.90015792C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs6881412" "0" "" "" "g.90719975C>T" "" "benign" "" "0000372813" "10" "11" "5" "90015792" "90015792" "subst" "0" "02416" "GPR98_000166" "g.90015792C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs6881412" "0" "" "" "g.90719975C>T" "" "benign" "" "0000372814" "20" "11" "5" "90015792" "90015792" "subst" "0" "02416" "GPR98_000166" "g.90015792C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs6881412" "0" "" "" "g.90719975C>T" "" "benign" "" "0000372815" "10" "11" "5" "90015792" "90015792" "subst" "0" "02416" "GPR98_000166" "g.90015792C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs6881412" "0" "" "" "g.90719975C>T" "" "benign" "" "0000372816" "20" "11" "5" "90015792" "90015792" "subst" "0" "02416" "GPR98_000166" "g.90015792C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs6881412" "0" "" "" "g.90719975C>T" "" "benign" "" "0000372817" "10" "11" "5" "90016129" "90016129" "subst" "0" "02416" "GPR98_000167" "g.90016129A>G" "" "{PMID:Besnard 2012:22147658}" "-EcoRV" "" "homozygous" "Germline" "" "rs6452906" "0" "" "" "g.90720312A>G" "" "benign" "" "0000372818" "20" "11" "5" "90016129" "90016129" "subst" "0" "02416" "GPR98_000167" "g.90016129A>G" "" "{PMID:Besnard 2012:22147658}" "-EcoRV" "" "homozygous" "Germline" "" "rs6452906" "0" "" "" "g.90720312A>G" "" "benign" "" "0000372819" "10" "11" "5" "90016129" "90016129" "subst" "0" "02416" "GPR98_000167" "g.90016129A>G" "" "{PMID:Besnard 2012:22147658}" "-EcoRV" "" "homozygous" "Germline" "" "rs6452906" "0" "" "" "g.90720312A>G" "" "benign" "" "0000372820" "20" "11" "5" "90016129" "90016129" "subst" "0" "02416" "GPR98_000167" "g.90016129A>G" "" "{PMID:Besnard 2012:22147658}" "-EcoRV" "" "homozygous" "Germline" "" "rs6452906" "0" "" "" "g.90720312A>G" "" "benign" "" "0000372821" "0" "11" "5" "90016129" "90016129" "subst" "0" "02416" "GPR98_000167" "g.90016129A>G" "" "{PMID:Besnard 2012:22147658}" "-EcoRV" "" "heterozygous" "Germline" "" "rs6452906" "0" "" "" "g.90720312A>G" "" "benign" "" "0000372822" "0" "11" "5" "90016129" "90016129" "subst" "0" "02416" "GPR98_000167" "g.90016129A>G" "" "{PMID:Besnard 2012:22147658}" "-EcoRV" "" "heterozygous" "Germline" "" "rs6452906" "0" "" "" "g.90720312A>G" "" "benign" "" "0000372823" "10" "11" "5" "90016129" "90016129" "subst" "0" "02416" "GPR98_000167" "g.90016129A>G" "" "{PMID:Besnard 2012:22147658}" "-EcoRV" "" "homozygous" "Germline" "" "rs6452906" "0" "" "" "g.90720312A>G" "" "benign" "" "0000372824" "20" "11" "5" "90016129" "90016129" "subst" "0" "02416" "GPR98_000167" "g.90016129A>G" "" "{PMID:Besnard 2012:22147658}" "-EcoRV" "" "homozygous" "Germline" "" "rs6452906" "0" "" "" "g.90720312A>G" "" "benign" "" "0000372825" "10" "11" "5" "90016129" "90016129" "subst" "0" "02416" "GPR98_000167" "g.90016129A>G" "" "{PMID:Besnard 2012:22147658}" "-EcoRV" "" "homozygous" "Germline" "" "rs6452906" "0" "" "" "g.90720312A>G" "" "benign" "" "0000372826" "20" "11" "5" "90016129" "90016129" "subst" "0" "02416" "GPR98_000167" "g.90016129A>G" "" "{PMID:Besnard 2012:22147658}" "-EcoRV" "" "homozygous" "Germline" "" "rs6452906" "0" "" "" "g.90720312A>G" "" "benign" "" "0000372827" "10" "11" "5" "90016129" "90016129" "subst" "0" "02416" "GPR98_000167" "g.90016129A>G" "" "{PMID:Besnard 2012:22147658}" "-EcoRV" "" "homozygous" "Germline" "" "rs6452906" "0" "" "" "g.90720312A>G" "" "benign" "" "0000372828" "20" "11" "5" "90016129" "90016129" "subst" "0" "02416" "GPR98_000167" "g.90016129A>G" "" "{PMID:Besnard 2012:22147658}" "-EcoRV" "" "homozygous" "Germline" "" "rs6452906" "0" "" "" "g.90720312A>G" "" "benign" "" "0000372829" "10" "11" "5" "90016129" "90016129" "subst" "0" "02416" "GPR98_000167" "g.90016129A>G" "" "{PMID:Besnard 2012:22147658}" "-EcoRV" "" "homozygous" "Germline" "" "rs6452906" "0" "" "" "g.90720312A>G" "" "benign" "" "0000372830" "20" "11" "5" "90016129" "90016129" "subst" "0" "02416" "GPR98_000167" "g.90016129A>G" "" "{PMID:Besnard 2012:22147658}" "-EcoRV" "" "homozygous" "Germline" "" "rs6452906" "0" "" "" "g.90720312A>G" "" "benign" "" "0000372831" "10" "11" "5" "90016129" "90016129" "subst" "0" "02416" "GPR98_000167" "g.90016129A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "-EcoRV" "" "homozygous" "Germline" "" "rs6452906" "0" "" "" "g.90720312A>G" "" "benign" "" "0000372832" "20" "11" "5" "90016129" "90016129" "subst" "0" "02416" "GPR98_000167" "g.90016129A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "-EcoRV" "" "homozygous" "Germline" "" "rs6452906" "0" "" "" "g.90720312A>G" "" "benign" "" "0000372833" "10" "11" "5" "90016129" "90016129" "subst" "0" "02416" "GPR98_000167" "g.90016129A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "-EcoRV" "" "homozygous" "Germline" "" "rs6452906" "0" "" "" "g.90720312A>G" "" "benign" "" "0000372834" "20" "11" "5" "90016129" "90016129" "subst" "0" "02416" "GPR98_000167" "g.90016129A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "-EcoRV" "" "homozygous" "Germline" "" "rs6452906" "0" "" "" "g.90720312A>G" "" "benign" "" "0000372835" "10" "11" "5" "90016129" "90016129" "subst" "0" "02416" "GPR98_000167" "g.90016129A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "-EcoRV" "" "homozygous" "Germline" "" "rs6452906" "0" "" "" "g.90720312A>G" "" "benign" "" "0000372836" "20" "11" "5" "90016129" "90016129" "subst" "0" "02416" "GPR98_000167" "g.90016129A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "-EcoRV" "" "homozygous" "Germline" "" "rs6452906" "0" "" "" "g.90720312A>G" "" "benign" "" "0000372837" "10" "11" "5" "90020868" "90020868" "subst" "0.702336" "02416" "GPR98_000168" "g.90020868A>C" "" "{PMID:Besnard 2012:22147658}" "+NlaIII;+FatI;+BspHI;+Hpy188III;+CviAII;" "" "homozygous" "Germline" "" "rs7723259" "0" "" "" "g.90725051A>C" "" "benign" "" "0000372838" "20" "11" "5" "90020868" "90020868" "subst" "0.702336" "02416" "GPR98_000168" "g.90020868A>C" "" "{PMID:Besnard 2012:22147658}" "+NlaIII;+FatI;+BspHI;+Hpy188III;+CviAII;" "" "homozygous" "Germline" "" "rs7723259" "0" "" "" "g.90725051A>C" "" "benign" "" "0000372839" "0" "11" "5" "90020868" "90020868" "subst" "0.702336" "02416" "GPR98_000168" "g.90020868A>C" "" "{PMID:Besnard 2012:22147658}" "+NlaIII;+FatI;+BspHI;+Hpy188III;+CviAII;" "" "heterozygous" "Germline" "" "rs7723259" "0" "" "" "g.90725051A>C" "" "benign" "" "0000372840" "10" "11" "5" "90020868" "90020868" "subst" "0.702336" "02416" "GPR98_000168" "g.90020868A>C" "" "{PMID:Besnard 2012:22147658}" "+NlaIII;+FatI;+BspHI;+Hpy188III;+CviAII;" "" "homozygous" "Germline" "" "rs7723259" "0" "" "" "g.90725051A>C" "" "benign" "" "0000372841" "20" "11" "5" "90020868" "90020868" "subst" "0.702336" "02416" "GPR98_000168" "g.90020868A>C" "" "{PMID:Besnard 2012:22147658}" "+NlaIII;+FatI;+BspHI;+Hpy188III;+CviAII;" "" "homozygous" "Germline" "" "rs7723259" "0" "" "" "g.90725051A>C" "" "benign" "" "0000372842" "0" "11" "5" "90020868" "90020868" "subst" "0.702336" "02416" "GPR98_000168" "g.90020868A>C" "" "{PMID:Besnard 2012:22147658}" "+NlaIII;+FatI;+BspHI;+Hpy188III;+CviAII;" "" "heterozygous" "Germline" "" "rs7723259" "0" "" "" "g.90725051A>C" "" "benign" "" "0000372843" "0" "11" "5" "90020868" "90020868" "subst" "0.702336" "02416" "GPR98_000168" "g.90020868A>C" "" "{PMID:Besnard 2012:22147658}" "+NlaIII;+FatI;+BspHI;+Hpy188III;+CviAII;" "" "heterozygous" "Germline" "" "rs7723259" "0" "" "" "g.90725051A>C" "" "benign" "" "0000372844" "10" "11" "5" "90020868" "90020868" "subst" "0.702336" "02416" "GPR98_000168" "g.90020868A>C" "" "{PMID:Besnard 2012:22147658}" "+NlaIII;+FatI;+BspHI;+Hpy188III;+CviAII;" "" "homozygous" "Germline" "" "rs7723259" "0" "" "" "g.90725051A>C" "" "benign" "" "0000372845" "20" "11" "5" "90020868" "90020868" "subst" "0.702336" "02416" "GPR98_000168" "g.90020868A>C" "" "{PMID:Besnard 2012:22147658}" "+NlaIII;+FatI;+BspHI;+Hpy188III;+CviAII;" "" "homozygous" "Germline" "" "rs7723259" "0" "" "" "g.90725051A>C" "" "benign" "" "0000372846" "10" "11" "5" "90020868" "90020868" "subst" "0.702336" "02416" "GPR98_000168" "g.90020868A>C" "" "{PMID:Besnard 2012:22147658}" "+NlaIII;+FatI;+BspHI;+Hpy188III;+CviAII;" "" "homozygous" "Germline" "" "rs7723259" "0" "" "" "g.90725051A>C" "" "benign" "" "0000372847" "20" "11" "5" "90020868" "90020868" "subst" "0.702336" "02416" "GPR98_000168" "g.90020868A>C" "" "{PMID:Besnard 2012:22147658}" "+NlaIII;+FatI;+BspHI;+Hpy188III;+CviAII;" "" "homozygous" "Germline" "" "rs7723259" "0" "" "" "g.90725051A>C" "" "benign" "" "0000372848" "10" "11" "5" "90020868" "90020868" "subst" "0.702336" "02416" "GPR98_000168" "g.90020868A>C" "" "{PMID:Besnard 2012:22147658}" "+NlaIII;+FatI;+BspHI;+Hpy188III;+CviAII;" "" "homozygous" "Germline" "" "rs7723259" "0" "" "" "g.90725051A>C" "" "benign" "" "0000372849" "20" "11" "5" "90020868" "90020868" "subst" "0.702336" "02416" "GPR98_000168" "g.90020868A>C" "" "{PMID:Besnard 2012:22147658}" "+NlaIII;+FatI;+BspHI;+Hpy188III;+CviAII;" "" "homozygous" "Germline" "" "rs7723259" "0" "" "" "g.90725051A>C" "" "benign" "" "0000372850" "10" "11" "5" "90020868" "90020868" "subst" "0.702336" "02416" "GPR98_000168" "g.90020868A>C" "" "{PMID:Besnard 2012:22147658}" "+NlaIII;+FatI;+BspHI;+Hpy188III;+CviAII;" "" "homozygous" "Germline" "" "rs7723259" "0" "" "" "g.90725051A>C" "" "benign" "" "0000372851" "20" "11" "5" "90020868" "90020868" "subst" "0.702336" "02416" "GPR98_000168" "g.90020868A>C" "" "{PMID:Besnard 2012:22147658}" "+NlaIII;+FatI;+BspHI;+Hpy188III;+CviAII;" "" "homozygous" "Germline" "" "rs7723259" "0" "" "" "g.90725051A>C" "" "benign" "" "0000372852" "10" "11" "5" "90020868" "90020868" "subst" "0.702336" "02416" "GPR98_000168" "g.90020868A>C" "" "{PMID:Besnard 2012:22147658}" "+NlaIII;+FatI;+BspHI;+Hpy188III;+CviAII;" "" "homozygous" "Germline" "" "rs7723259" "0" "" "" "g.90725051A>C" "" "benign" "" "0000372853" "20" "11" "5" "90020868" "90020868" "subst" "0.702336" "02416" "GPR98_000168" "g.90020868A>C" "" "{PMID:Besnard 2012:22147658}" "+NlaIII;+FatI;+BspHI;+Hpy188III;+CviAII;" "" "homozygous" "Germline" "" "rs7723259" "0" "" "" "g.90725051A>C" "" "benign" "" "0000372854" "10" "11" "5" "90020868" "90020868" "subst" "0.702336" "02416" "GPR98_000168" "g.90020868A>C" "" "{PMID:Garcia-Garcia 2013:23441107}" "+NlaIII;+FatI;+BspHI;+Hpy188III;+CviAII;" "" "homozygous" "Germline" "" "rs7723259" "0" "" "" "g.90725051A>C" "" "benign" "" "0000372855" "20" "11" "5" "90020868" "90020868" "subst" "0.702336" "02416" "GPR98_000168" "g.90020868A>C" "" "{PMID:Garcia-Garcia 2013:23441107}" "+NlaIII;+FatI;+BspHI;+Hpy188III;+CviAII;" "" "homozygous" "Germline" "" "rs7723259" "0" "" "" "g.90725051A>C" "" "benign" "" "0000372856" "10" "11" "5" "90020868" "90020868" "subst" "0.702336" "02416" "GPR98_000168" "g.90020868A>C" "" "{PMID:Garcia-Garcia 2013:23441107}" "+NlaIII;+FatI;+BspHI;+Hpy188III;+CviAII;" "" "homozygous" "Germline" "" "rs7723259" "0" "" "" "g.90725051A>C" "" "benign" "" "0000372857" "20" "11" "5" "90020868" "90020868" "subst" "0.702336" "02416" "GPR98_000168" "g.90020868A>C" "" "{PMID:Garcia-Garcia 2013:23441107}" "+NlaIII;+FatI;+BspHI;+Hpy188III;+CviAII;" "" "homozygous" "Germline" "" "rs7723259" "0" "" "" "g.90725051A>C" "" "benign" "" "0000372858" "10" "11" "5" "90020868" "90020868" "subst" "0.702336" "02416" "GPR98_000168" "g.90020868A>C" "" "{PMID:Garcia-Garcia 2013:23441107}" "+NlaIII;+FatI;+BspHI;+Hpy188III;+CviAII;" "" "homozygous" "Germline" "" "rs7723259" "0" "" "" "g.90725051A>C" "" "benign" "" "0000372859" "20" "11" "5" "90020868" "90020868" "subst" "0.702336" "02416" "GPR98_000168" "g.90020868A>C" "" "{PMID:Garcia-Garcia 2013:23441107}" "+NlaIII;+FatI;+BspHI;+Hpy188III;+CviAII;" "" "homozygous" "Germline" "" "rs7723259" "0" "" "" "g.90725051A>C" "" "benign" "" "0000372860" "10" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "homozygous" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372861" "20" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "homozygous" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372862" "0" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "heterozygous" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372863" "10" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "homozygous" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372864" "20" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "homozygous" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372865" "0" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "heterozygous" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372866" "0" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "heterozygous" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372867" "10" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "homozygous" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372868" "20" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "homozygous" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372869" "0" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "heterozygous" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372870" "10" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "homozygous" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372871" "20" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "homozygous" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372872" "10" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "homozygous" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372873" "20" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "homozygous" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372874" "10" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "homozygous" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372875" "20" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "homozygous" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372876" "10" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "homozygous" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372877" "20" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "homozygous" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372878" "10" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "homozygous; non causative" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372879" "20" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "homozygous; non causative" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372880" "10" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "homozygous; non causative" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372881" "20" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "homozygous; non causative" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372882" "10" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "homozygous; non causative" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372883" "20" "11" "5" "90024735" "90024735" "subst" "0.750047" "02416" "GPR98_000169" "g.90024735G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1E3471K:} USMA-{MSV3dQ8WXG9p.Glu3471Lys:}" "none" "" "homozygous; non causative" "Germline" "" "rs2366928" "0" "" "" "g.90728918G>A" "" "benign" "" "0000372884" "10" "11" "5" "90049238" "90049238" "subst" "0" "02416" "GPR98_000170" "g.90049238A>G" "" "{PMID:Besnard 2012:22147658}" "+SfaNI" "" "homozygous" "Germline" "" "" "0" "" "" "g.90753421A>G" "" "benign" "" "0000372885" "20" "11" "5" "90049238" "90049238" "subst" "0" "02416" "GPR98_000170" "g.90049238A>G" "" "{PMID:Besnard 2012:22147658}" "+SfaNI" "" "homozygous" "Germline" "" "" "0" "" "" "g.90753421A>G" "" "benign" "" "0000372886" "0" "11" "5" "90049238" "90049238" "subst" "0" "02416" "GPR98_000170" "g.90049238A>G" "" "{PMID:Besnard 2012:22147658}" "+SfaNI" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90753421A>G" "" "benign" "" "0000372887" "0" "11" "5" "90049238" "90049238" "subst" "0" "02416" "GPR98_000170" "g.90049238A>G" "" "{PMID:Besnard 2012:22147658}" "+SfaNI" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90753421A>G" "" "benign" "" "0000372888" "0" "11" "5" "90049238" "90049238" "subst" "0" "02416" "GPR98_000170" "g.90049238A>G" "" "{PMID:Besnard 2012:22147658}" "+SfaNI" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90753421A>G" "" "benign" "" "0000372889" "10" "11" "5" "90049238" "90049238" "subst" "0" "02416" "GPR98_000170" "g.90049238A>G" "" "{PMID:Besnard 2012:22147658}" "+SfaNI" "" "homozygous" "Germline" "" "" "0" "" "" "g.90753421A>G" "" "benign" "" "0000372890" "20" "11" "5" "90049238" "90049238" "subst" "0" "02416" "GPR98_000170" "g.90049238A>G" "" "{PMID:Besnard 2012:22147658}" "+SfaNI" "" "homozygous" "Germline" "" "" "0" "" "" "g.90753421A>G" "" "benign" "" "0000372891" "10" "11" "5" "90049238" "90049238" "subst" "0" "02416" "GPR98_000170" "g.90049238A>G" "" "{PMID:Besnard 2012:22147658}" "+SfaNI" "" "homozygous" "Germline" "" "" "0" "" "" "g.90753421A>G" "" "benign" "" "0000372892" "20" "11" "5" "90049238" "90049238" "subst" "0" "02416" "GPR98_000170" "g.90049238A>G" "" "{PMID:Besnard 2012:22147658}" "+SfaNI" "" "homozygous" "Germline" "" "" "0" "" "" "g.90753421A>G" "" "benign" "" "0000372893" "0" "11" "5" "90051086" "90051088" "dup" "0" "02416" "GPR98_000171" "g.90051086_90051088dup" "" "{PMID:Besnard 2012:22147658}" "+MboII" "" "heterozygous" "Germline" "" "rs75702615" "0" "" "" "g.90755269_90755271dup" "" "benign" "" "0000372894" "0" "11" "5" "90051086" "90051088" "dup" "0" "02416" "GPR98_000171" "g.90051086_90051088dup" "" "{PMID:Besnard 2012:22147658}" "+MboII" "" "heterozygous" "Germline" "" "rs75702615" "0" "" "" "g.90755269_90755271dup" "" "benign" "" "0000372895" "0" "11" "5" "90051086" "90051088" "dup" "0" "02416" "GPR98_000171" "g.90051086_90051088dup" "" "{PMID:Besnard 2012:22147658}" "+MboII" "" "heterozygous" "Germline" "" "rs75702615" "0" "" "" "g.90755269_90755271dup" "" "benign" "" "0000372896" "10" "11" "5" "90051086" "90051088" "dup" "0" "02416" "GPR98_000171" "g.90051086_90051088dup" "" "{PMID:Besnard 2012:22147658}" "+MboII" "" "homozygous" "Germline" "" "rs75702615" "0" "" "" "g.90755269_90755271dup" "" "benign" "" "0000372897" "20" "11" "5" "90051086" "90051088" "dup" "0" "02416" "GPR98_000171" "g.90051086_90051088dup" "" "{PMID:Besnard 2012:22147658}" "+MboII" "" "homozygous" "Germline" "" "rs75702615" "0" "" "" "g.90755269_90755271dup" "" "benign" "" "0000372898" "0" "11" "5" "90051086" "90051088" "dup" "0" "02416" "GPR98_000171" "g.90051086_90051088dup" "" "{PMID:Besnard 2012:22147658}" "+MboII" "" "heterozygous" "Germline" "" "rs75702615" "0" "" "" "g.90755269_90755271dup" "" "benign" "" "0000372899" "0" "11" "5" "90051086" "90051088" "dup" "0" "02416" "GPR98_000171" "g.90051086_90051088dup" "" "{PMID:Besnard 2012:22147658}" "+MboII" "" "heterozygous" "Germline" "" "rs75702615" "0" "" "" "g.90755269_90755271dup" "" "benign" "" "0000372900" "10" "11" "5" "90051086" "90051088" "dup" "0" "02416" "GPR98_000171" "g.90051086_90051088dup" "" "{PMID:Garcia-Garcia 2013:23441107}" "+MboII" "" "homozygous" "Germline" "" "rs75702615" "0" "" "" "g.90755269_90755271dup" "" "benign" "" "0000372901" "20" "11" "5" "90051086" "90051088" "dup" "0" "02416" "GPR98_000171" "g.90051086_90051088dup" "" "{PMID:Garcia-Garcia 2013:23441107}" "+MboII" "" "homozygous" "Germline" "" "rs75702615" "0" "" "" "g.90755269_90755271dup" "" "benign" "" "0000372902" "0" "11" "5" "90051086" "90051088" "dup" "0" "02416" "GPR98_000171" "g.90051086_90051088dup" "" "{PMID:Garcia-Garcia 2013:23441107}" "+MboII" "" "heterozygous" "Germline" "" "rs75702615" "0" "" "" "g.90755269_90755271dup" "" "benign" "" "0000372903" "0" "11" "5" "90052268" "90052268" "dup" "0" "02416" "GPR98_000172" "g.90052268dup" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs70973706" "0" "" "" "g.90756451dup" "" "benign" "" "0000372904" "0" "11" "5" "90052268" "90052268" "dup" "0" "02416" "GPR98_000172" "g.90052268dup" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs70973706" "0" "" "" "g.90756451dup" "" "benign" "" "0000372905" "0" "11" "5" "90052268" "90052268" "dup" "0" "02416" "GPR98_000172" "g.90052268dup" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs70973706" "0" "" "" "g.90756451dup" "" "benign" "" "0000372906" "10" "11" "5" "90052268" "90052268" "dup" "0" "02416" "GPR98_000172" "g.90052268dup" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs70973706" "0" "" "" "g.90756451dup" "" "benign" "" "0000372907" "20" "11" "5" "90052268" "90052268" "dup" "0" "02416" "GPR98_000172" "g.90052268dup" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs70973706" "0" "" "" "g.90756451dup" "" "benign" "" "0000372908" "0" "11" "5" "90052268" "90052268" "dup" "0" "02416" "GPR98_000172" "g.90052268dup" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs70973706" "0" "" "" "g.90756451dup" "" "benign" "" "0000372909" "0" "11" "5" "90052268" "90052268" "dup" "0" "02416" "GPR98_000172" "g.90052268dup" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs70973706" "0" "" "" "g.90756451dup" "" "benign" "" "0000372910" "0" "11" "5" "90052268" "90052268" "dup" "0" "02416" "GPR98_000172" "g.90052268dup" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs70973706" "0" "" "" "g.90756451dup" "" "benign" "" "0000372911" "0" "11" "5" "90052268" "90052268" "dup" "0" "02416" "GPR98_000172" "g.90052268dup" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "heterozygous" "Germline" "" "rs70973706" "0" "" "" "g.90756451dup" "" "benign" "" "0000372912" "0" "11" "5" "90052268" "90052268" "dup" "0" "02416" "GPR98_000172" "g.90052268dup" "" "{PMID:Rong 2014:24831256}" "none" "c.11581-8_-7insC" "heterozygous; non causative" "Germline" "" "rs70973706" "0" "" "" "g.90756451dup" "" "benign" "" "0000372913" "10" "11" "5" "90052268" "90052268" "dup" "0" "02416" "GPR98_000172" "g.90052268dup" "" "{PMID:Rong 2014:24831256}" "none" "c.11581-8_-7insC" "homozygous; non causative" "Germline" "" "rs70973706" "0" "" "" "g.90756451dup" "" "benign" "" "0000372914" "20" "11" "5" "90052268" "90052268" "dup" "0" "02416" "GPR98_000172" "g.90052268dup" "" "{PMID:Rong 2014:24831256}" "none" "c.11581-8_-7insC" "homozygous; non causative" "Germline" "" "rs70973706" "0" "" "" "g.90756451dup" "" "benign" "" "0000372915" "0" "11" "5" "90052268" "90052268" "dup" "0" "02416" "GPR98_000172" "g.90052268dup" "" "{PMID:Rong 2014:24831256}" "none" "c.11581-8_-7insC" "heterozygous; non causative" "Germline" "" "rs70973706" "0" "" "" "g.90756451dup" "" "benign" "" "0000372916" "0" "11" "5" "90052372" "90052372" "subst" "0.48646" "02416" "GPR98_000173" "g.90052372C>T" "" "{PMID:Besnard 2012:22147658}" "+PspGI;+BstNI;+StuI;-Sau96I;-MspI;-HpaII;" "" "heterozygous" "Germline" "" "rs2438349" "0" "" "" "g.90756555C>T" "" "benign" "" "0000372917" "0" "11" "5" "90052372" "90052372" "subst" "0.48646" "02416" "GPR98_000173" "g.90052372C>T" "" "{PMID:Besnard 2012:22147658}" "+PspGI;+BstNI;+StuI;-Sau96I;-MspI;-HpaII;" "" "heterozygous" "Germline" "" "rs2438349" "0" "" "" "g.90756555C>T" "" "benign" "" "0000372918" "0" "11" "5" "90052372" "90052372" "subst" "0.48646" "02416" "GPR98_000173" "g.90052372C>T" "" "{PMID:Besnard 2012:22147658}" "+PspGI;+BstNI;+StuI;-Sau96I;-MspI;-HpaII;" "" "heterozygous" "Germline" "" "rs2438349" "0" "" "" "g.90756555C>T" "" "benign" "" "0000372919" "10" "11" "5" "90052372" "90052372" "subst" "0.48646" "02416" "GPR98_000173" "g.90052372C>T" "" "{PMID:Besnard 2012:22147658}" "+PspGI;+BstNI;+StuI;-Sau96I;-MspI;-HpaII;" "" "homozygous" "Germline" "" "rs2438349" "0" "" "" "g.90756555C>T" "" "benign" "" "0000372920" "20" "11" "5" "90052372" "90052372" "subst" "0.48646" "02416" "GPR98_000173" "g.90052372C>T" "" "{PMID:Besnard 2012:22147658}" "+PspGI;+BstNI;+StuI;-Sau96I;-MspI;-HpaII;" "" "homozygous" "Germline" "" "rs2438349" "0" "" "" "g.90756555C>T" "" "benign" "" "0000372921" "0" "11" "5" "90052372" "90052372" "subst" "0.48646" "02416" "GPR98_000173" "g.90052372C>T" "" "{PMID:Besnard 2012:22147658}" "+PspGI;+BstNI;+StuI;-Sau96I;-MspI;-HpaII;" "" "heterozygous" "Germline" "" "rs2438349" "0" "" "" "g.90756555C>T" "" "benign" "" "0000372922" "0" "11" "5" "90052372" "90052372" "subst" "0.48646" "02416" "GPR98_000173" "g.90052372C>T" "" "{PMID:Besnard 2012:22147658}" "+PspGI;+BstNI;+StuI;-Sau96I;-MspI;-HpaII;" "" "heterozygous" "Germline" "" "rs2438349" "0" "" "" "g.90756555C>T" "" "benign" "" "0000372923" "0" "11" "5" "90052372" "90052372" "subst" "0.48646" "02416" "GPR98_000173" "g.90052372C>T" "" "{PMID:Besnard 2012:22147658}" "+PspGI;+BstNI;+StuI;-Sau96I;-MspI;-HpaII;" "" "heterozygous" "Germline" "" "rs2438349" "0" "" "" "g.90756555C>T" "" "benign" "" "0000372924" "10" "11" "5" "90052372" "90052372" "subst" "0.48646" "02416" "GPR98_000173" "g.90052372C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "+PspGI;+BstNI;+StuI;-Sau96I;-MspI;-HpaII;" "" "homozygous" "Germline" "" "rs2438349" "0" "" "" "g.90756555C>T" "" "benign" "" "0000372925" "20" "11" "5" "90052372" "90052372" "subst" "0.48646" "02416" "GPR98_000173" "g.90052372C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "+PspGI;+BstNI;+StuI;-Sau96I;-MspI;-HpaII;" "" "homozygous" "Germline" "" "rs2438349" "0" "" "" "g.90756555C>T" "" "benign" "" "0000372926" "0" "11" "5" "90052372" "90052372" "subst" "0.48646" "02416" "GPR98_000173" "g.90052372C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "+PspGI;+BstNI;+StuI;-Sau96I;-MspI;-HpaII;" "" "heterozygous" "Germline" "" "rs2438349" "0" "" "" "g.90756555C>T" "" "benign" "" "0000372927" "0" "11" "5" "90053056" "90053056" "subst" "0" "02416" "GPR98_000174" "g.90053056A>G" "" "{PMID:Besnard 2012:22147658}" "+HpyCH4IV;-BsrGI;" "" "heterozygous" "Germline" "" "rs2443065" "0" "" "" "g.90757239A>G" "" "benign" "" "0000372928" "0" "11" "5" "90053056" "90053056" "subst" "0" "02416" "GPR98_000174" "g.90053056A>G" "" "{PMID:Besnard 2012:22147658}" "+HpyCH4IV;-BsrGI;" "" "heterozygous" "Germline" "" "rs2443065" "0" "" "" "g.90757239A>G" "" "benign" "" "0000372929" "0" "11" "5" "90053056" "90053056" "subst" "0" "02416" "GPR98_000174" "g.90053056A>G" "" "{PMID:Besnard 2012:22147658}" "+HpyCH4IV;-BsrGI;" "" "heterozygous" "Germline" "" "rs2443065" "0" "" "" "g.90757239A>G" "" "benign" "" "0000372930" "10" "11" "5" "90053056" "90053056" "subst" "0" "02416" "GPR98_000174" "g.90053056A>G" "" "{PMID:Besnard 2012:22147658}" "+HpyCH4IV;-BsrGI;" "" "homozygous" "Germline" "" "rs2443065" "0" "" "" "g.90757239A>G" "" "benign" "" "0000372931" "20" "11" "5" "90053056" "90053056" "subst" "0" "02416" "GPR98_000174" "g.90053056A>G" "" "{PMID:Besnard 2012:22147658}" "+HpyCH4IV;-BsrGI;" "" "homozygous" "Germline" "" "rs2443065" "0" "" "" "g.90757239A>G" "" "benign" "" "0000372932" "0" "11" "5" "90053056" "90053056" "subst" "0" "02416" "GPR98_000174" "g.90053056A>G" "" "{PMID:Besnard 2012:22147658}" "+HpyCH4IV;-BsrGI;" "" "heterozygous" "Germline" "" "rs2443065" "0" "" "" "g.90757239A>G" "" "benign" "" "0000372933" "0" "11" "5" "90053056" "90053056" "subst" "0" "02416" "GPR98_000174" "g.90053056A>G" "" "{PMID:Besnard 2012:22147658}" "+HpyCH4IV;-BsrGI;" "" "heterozygous" "Germline" "" "rs2443065" "0" "" "" "g.90757239A>G" "" "benign" "" "0000372934" "0" "11" "5" "90053056" "90053056" "subst" "0" "02416" "GPR98_000174" "g.90053056A>G" "" "{PMID:Besnard 2012:22147658}" "+HpyCH4IV;-BsrGI;" "" "heterozygous" "Germline" "" "rs2443065" "0" "" "" "g.90757239A>G" "" "benign" "" "0000372935" "10" "11" "5" "90053056" "90053056" "subst" "0" "02416" "GPR98_000174" "g.90053056A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "+HpyCH4IV;-BsrGI;" "" "homozygous" "Germline" "" "rs2443065" "0" "" "" "g.90757239A>G" "" "benign" "" "0000372936" "20" "11" "5" "90053056" "90053056" "subst" "0" "02416" "GPR98_000174" "g.90053056A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "+HpyCH4IV;-BsrGI;" "" "homozygous" "Germline" "" "rs2443065" "0" "" "" "g.90757239A>G" "" "benign" "" "0000372937" "0" "11" "5" "90053056" "90053056" "subst" "0" "02416" "GPR98_000174" "g.90053056A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "+HpyCH4IV;-BsrGI;" "" "heterozygous" "Germline" "" "rs2443065" "0" "" "" "g.90757239A>G" "" "benign" "" "0000372938" "0" "11" "5" "90059406" "90059406" "subst" "0" "02416" "GPR98_000175" "g.90059406A>G" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90763589A>G" "" "benign" "" "0000372939" "0" "11" "5" "90059406" "90059406" "subst" "0" "02416" "GPR98_000175" "g.90059406A>G" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90763589A>G" "" "benign" "" "0000372940" "0" "11" "5" "90059406" "90059406" "subst" "0" "02416" "GPR98_000175" "g.90059406A>G" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90763589A>G" "" "benign" "" "0000372941" "10" "11" "5" "90059406" "90059406" "subst" "0" "02416" "GPR98_000175" "g.90059406A>G" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.90763589A>G" "" "benign" "" "0000372942" "20" "11" "5" "90059406" "90059406" "subst" "0" "02416" "GPR98_000175" "g.90059406A>G" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.90763589A>G" "" "benign" "" "0000372943" "10" "11" "5" "90059406" "90059406" "subst" "0" "02416" "GPR98_000175" "g.90059406A>G" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.90763589A>G" "" "benign" "" "0000372944" "20" "11" "5" "90059406" "90059406" "subst" "0" "02416" "GPR98_000175" "g.90059406A>G" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.90763589A>G" "" "benign" "" "0000372945" "0" "11" "5" "90059406" "90059406" "subst" "0" "02416" "GPR98_000175" "g.90059406A>G" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90763589A>G" "" "benign" "" "0000372946" "10" "11" "5" "90059406" "90059406" "subst" "0" "02416" "GPR98_000175" "g.90059406A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.90763589A>G" "" "benign" "" "0000372947" "20" "11" "5" "90059406" "90059406" "subst" "0" "02416" "GPR98_000175" "g.90059406A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.90763589A>G" "" "benign" "" "0000372948" "0" "11" "5" "90059406" "90059406" "subst" "0" "02416" "GPR98_000175" "g.90059406A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90763589A>G" "" "benign" "" "0000372949" "0" "11" "5" "90074759" "90074759" "subst" "0.0238167" "02416" "GPR98_000176" "g.90074759G>A" "" "{PMID:Besnard 2012:22147658}" "-MspA1I;-AciI;" "" "heterozygous" "Germline" "" "rs35092519" "0" "" "" "g.90778942G>A" "" "benign" "" "0000372950" "0" "11" "5" "90074759" "90074759" "subst" "0.0238167" "02416" "GPR98_000176" "g.90074759G>A" "" "{PMID:Besnard 2012:22147658}" "-MspA1I;-AciI;" "" "heterozygous" "Germline" "" "rs35092519" "0" "" "" "g.90778942G>A" "" "benign" "" "0000372951" "0" "11" "5" "90079972" "90079972" "subst" "0" "02416" "GPR98_000177" "g.90079972C>T" "" "{PMID:Besnard 2012:22147658}" "+HpyCH4III;-CviKI_1;" "" "heterozygous" "Germline" "" "rs879571" "0" "" "" "g.90784155C>T" "" "benign" "" "0000372952" "0" "11" "5" "90079972" "90079972" "subst" "0" "02416" "GPR98_000177" "g.90079972C>T" "" "{PMID:Besnard 2012:22147658}" "+HpyCH4III;-CviKI_1;" "" "heterozygous" "Germline" "" "rs879571" "0" "" "" "g.90784155C>T" "" "benign" "" "0000372953" "0" "11" "5" "90079972" "90079972" "subst" "0" "02416" "GPR98_000177" "g.90079972C>T" "" "{PMID:Besnard 2012:22147658}" "+HpyCH4III;-CviKI_1;" "" "heterozygous" "Germline" "" "rs879571" "0" "" "" "g.90784155C>T" "" "benign" "" "0000372954" "0" "11" "5" "90079820" "90079820" "subst" "0.162893" "02416" "GPR98_000178" "g.90079820A>G" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs17554631" "0" "" "" "g.90784003A>G" "" "benign" "" "0000372955" "0" "11" "5" "90079820" "90079820" "subst" "0.162893" "02416" "GPR98_000178" "g.90079820A>G" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs17554631" "0" "" "" "g.90784003A>G" "" "benign" "" "0000372956" "0" "11" "5" "90079820" "90079820" "subst" "0.162893" "02416" "GPR98_000178" "g.90079820A>G" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs17554631" "0" "" "" "g.90784003A>G" "" "benign" "" "0000372957" "0" "11" "5" "90079820" "90079820" "subst" "0.162893" "02416" "GPR98_000178" "g.90079820A>G" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs17554631" "0" "" "" "g.90784003A>G" "" "benign" "" "0000372958" "0" "11" "5" "90079820" "90079820" "subst" "0.162893" "02416" "GPR98_000178" "g.90079820A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "heterozygous" "Germline" "" "rs17554631" "0" "" "" "g.90784003A>G" "" "benign" "" "0000372959" "10" "11" "5" "90079820" "90079820" "subst" "0.162893" "02416" "GPR98_000178" "g.90079820A>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "none" "" "homozygous" "Germline" "" "rs17554631" "0" "" "" "g.90784003A>G" "" "benign" "" "0000372960" "20" "11" "5" "90079820" "90079820" "subst" "0.162893" "02416" "GPR98_000178" "g.90079820A>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "none" "" "homozygous" "Germline" "" "rs17554631" "0" "" "" "g.90784003A>G" "" "benign" "" "0000372961" "11" "75" "5" "90087011" "90087011" "subst" "4.06891E-6" "02416" "GPR98_000179" "g.90087011C>T" "0/176 controls" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1R4789W:} USMA-{MSV3dQ8WXG9p.Arg4789Trp:}" "+PspGI;+BstNI;-MspI;-HpaII;-NciI;" "" "heterozygous; UV3" "Germline" "" "" "0" "" "" "g.90791194C>T" "" "VUS" "ACMG" "0000372962" "0" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "heterozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372963" "10" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372964" "20" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372965" "0" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "heterozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372966" "10" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372967" "20" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372968" "10" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372969" "20" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372970" "10" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372971" "20" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372972" "10" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372973" "20" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372974" "10" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372975" "20" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372976" "10" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372977" "20" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372978" "10" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372979" "20" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372980" "10" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372981" "20" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372982" "10" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372983" "20" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372984" "10" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372985" "20" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372986" "10" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372987" "20" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372988" "10" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372989" "20" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372990" "10" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372991" "20" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372992" "10" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous; non causative" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372993" "20" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous; non causative" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372994" "10" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous; non causative" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372995" "20" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous; non causative" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372996" "10" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous; non causative" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372997" "20" "11" "5" "90107108" "90107108" "subst" "0.969653" "02416" "GPR98_000180" "g.90107108A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1E5344G:} USMA-{MSV3dQ8WXG9p.Glu5344Gly:}" "-BseRI" "" "homozygous; non causative" "Germline" "" "rs2438374" "0" "" "" "g.90811291A>G" "" "benign" "" "0000372998" "10" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000372999" "20" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373000" "10" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373001" "20" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373002" "10" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373003" "20" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373004" "10" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373005" "20" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373006" "10" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373007" "20" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373008" "10" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373009" "20" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373010" "10" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373011" "20" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373012" "10" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373013" "20" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373014" "10" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373015" "20" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373016" "10" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373017" "20" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373018" "10" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373019" "20" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373020" "10" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373021" "20" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373022" "10" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373023" "20" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373024" "10" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373025" "20" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373026" "10" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373027" "20" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373028" "10" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373029" "20" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373030" "10" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373031" "20" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373032" "10" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous; non causative" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373033" "20" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous; non causative" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373034" "10" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous; non causative" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373035" "20" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous; non causative" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373036" "10" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous; non causative" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373037" "20" "11" "5" "90119324" "90119324" "subst" "0.99305" "02416" "GPR98_000181" "g.90119324G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1V5427M:} USMA-{MSV3dQ8WXG9p.Val5427Met:}" "+BccI;-BssKI;-SexAI;-StyD4I;-BstNI;-PspGI;" "" "homozygous; non causative" "Germline" "" "rs2438378" "0" "" "" "g.90823507G>A" "" "benign" "" "0000373038" "0" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "heterozygous" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373039" "0" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "heterozygous" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373040" "0" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "heterozygous" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373041" "10" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "homozygous" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373042" "20" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "homozygous" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373043" "10" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "homozygous" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373044" "20" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "homozygous" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373045" "0" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "heterozygous" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373046" "10" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "homozygous" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373047" "20" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "homozygous" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373048" "10" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "homozygous" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373049" "20" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "homozygous" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373050" "0" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "heterozygous" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373051" "10" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "homozygous" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373052" "20" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "homozygous" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373053" "10" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "homozygous" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373054" "20" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "homozygous" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373055" "0" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "heterozygous" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373056" "0" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "heterozygous" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373057" "10" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "homozygous; non causative" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373058" "20" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "homozygous; non causative" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373059" "10" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "homozygous; non causative" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373060" "20" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "homozygous; non causative" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373061" "0" "11" "5" "90151589" "90151589" "subst" "0.543465" "02416" "GPR98_000182" "g.90151589G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1V5876I:} USMA-{MSV3dQ8WXG9p.Val5876Ile:}" "none" "" "heterozygous; non causative" "Germline" "" "rs2247870" "0" "" "" "g.90855772G>A" "" "benign" "" "0000373062" "10" "11" "5" "90449031" "90449031" "subst" "0.92516" "02416" "GPR98_000183" "g.90449031T>C" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs7726023" "0" "" "" "g.91153214T>C" "" "benign" "" "0000373063" "20" "11" "5" "90449031" "90449031" "subst" "0.92516" "02416" "GPR98_000183" "g.90449031T>C" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs7726023" "0" "" "" "g.91153214T>C" "" "benign" "" "0000373064" "10" "11" "5" "90449031" "90449031" "subst" "0.92516" "02416" "GPR98_000183" "g.90449031T>C" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs7726023" "0" "" "" "g.91153214T>C" "" "benign" "" "0000373065" "20" "11" "5" "90449031" "90449031" "subst" "0.92516" "02416" "GPR98_000183" "g.90449031T>C" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs7726023" "0" "" "" "g.91153214T>C" "" "benign" "" "0000373066" "10" "11" "5" "90449031" "90449031" "subst" "0.92516" "02416" "GPR98_000183" "g.90449031T>C" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs7726023" "0" "" "" "g.91153214T>C" "" "benign" "" "0000373067" "20" "11" "5" "90449031" "90449031" "subst" "0.92516" "02416" "GPR98_000183" "g.90449031T>C" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs7726023" "0" "" "" "g.91153214T>C" "" "benign" "" "0000373068" "10" "11" "5" "90449031" "90449031" "subst" "0.92516" "02416" "GPR98_000183" "g.90449031T>C" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs7726023" "0" "" "" "g.91153214T>C" "" "benign" "" "0000373069" "20" "11" "5" "90449031" "90449031" "subst" "0.92516" "02416" "GPR98_000183" "g.90449031T>C" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs7726023" "0" "" "" "g.91153214T>C" "" "benign" "" "0000373070" "10" "11" "5" "90449031" "90449031" "subst" "0.92516" "02416" "GPR98_000183" "g.90449031T>C" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs7726023" "0" "" "" "g.91153214T>C" "" "benign" "" "0000373071" "20" "11" "5" "90449031" "90449031" "subst" "0.92516" "02416" "GPR98_000183" "g.90449031T>C" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs7726023" "0" "" "" "g.91153214T>C" "" "benign" "" "0000373072" "10" "11" "5" "90449031" "90449031" "subst" "0.92516" "02416" "GPR98_000183" "g.90449031T>C" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs7726023" "0" "" "" "g.91153214T>C" "" "benign" "" "0000373073" "20" "11" "5" "90449031" "90449031" "subst" "0.92516" "02416" "GPR98_000183" "g.90449031T>C" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs7726023" "0" "" "" "g.91153214T>C" "" "benign" "" "0000373074" "0" "11" "5" "90449031" "90449031" "subst" "0.92516" "02416" "GPR98_000183" "g.90449031T>C" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs7726023" "0" "" "" "g.91153214T>C" "" "benign" "" "0000373075" "10" "11" "5" "90449031" "90449031" "subst" "0.92516" "02416" "GPR98_000183" "g.90449031T>C" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs7726023" "0" "" "" "g.91153214T>C" "" "benign" "" "0000373076" "20" "11" "5" "90449031" "90449031" "subst" "0.92516" "02416" "GPR98_000183" "g.90449031T>C" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs7726023" "0" "" "" "g.91153214T>C" "" "benign" "" "0000373077" "10" "11" "5" "90449031" "90449031" "subst" "0.92516" "02416" "GPR98_000183" "g.90449031T>C" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs7726023" "0" "" "" "g.91153214T>C" "" "benign" "" "0000373078" "20" "11" "5" "90449031" "90449031" "subst" "0.92516" "02416" "GPR98_000183" "g.90449031T>C" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs7726023" "0" "" "" "g.91153214T>C" "" "benign" "" "0000373079" "10" "11" "5" "90449031" "90449031" "subst" "0.92516" "02416" "GPR98_000183" "g.90449031T>C" "" "{PMID:Rong 2014:24831256}" "none" "chr5:g.90449031T>C-c.6225-7T>C in ENST00000405460" "homozygous; non causative" "Germline" "" "rs7726023" "0" "" "" "g.91153214T>C" "" "benign" "" "0000373080" "20" "11" "5" "90449031" "90449031" "subst" "0.92516" "02416" "GPR98_000183" "g.90449031T>C" "" "{PMID:Rong 2014:24831256}" "none" "chr5:g.90449031T>C-c.6225-7T>C in ENST00000405460" "homozygous; non causative" "Germline" "" "rs7726023" "0" "" "" "g.91153214T>C" "" "benign" "" "0000373081" "10" "11" "5" "90449031" "90449031" "subst" "0.92516" "02416" "GPR98_000183" "g.90449031T>C" "" "{PMID:Rong 2014:24831256}" "none" "chr5:g.90449031T>C-c.6225-7T>C in ENST00000405460" "homozygous; non causative" "Germline" "" "rs7726023" "0" "" "" "g.91153214T>C" "" "benign" "" "0000373082" "20" "11" "5" "90449031" "90449031" "subst" "0.92516" "02416" "GPR98_000183" "g.90449031T>C" "" "{PMID:Rong 2014:24831256}" "none" "chr5:g.90449031T>C-c.6225-7T>C in ENST00000405460" "homozygous; non causative" "Germline" "" "rs7726023" "0" "" "" "g.91153214T>C" "" "benign" "" "0000373083" "0" "11" "5" "90449031" "90449031" "subst" "0.92516" "02416" "GPR98_000183" "g.90449031T>C" "" "{PMID:Rong 2014:24831256}" "none" "" "heterozygous; non causative" "Germline" "" "rs7726023" "0" "" "" "g.91153214T>C" "" "benign" "" "0000373084" "0" "11" "5" "89914687" "89914687" "subst" "0" "02416" "GPR98_000184" "g.89914687A>G" "" "{PMID:Besnard 2012:22147658}" "+CviKI_1;-Tsp45I;" "" "heterozygous" "Germline" "" "rs1673379" "0" "" "" "g.90618870A>G" "" "benign" "" "0000373085" "0" "11" "5" "89914687" "89914687" "subst" "0" "02416" "GPR98_000184" "g.89914687A>G" "" "{PMID:Besnard 2012:22147658}" "+CviKI_1;-Tsp45I;" "" "heterozygous" "Germline" "" "rs1673379" "0" "" "" "g.90618870A>G" "" "benign" "" "0000373086" "0" "11" "5" "89914687" "89914687" "subst" "0" "02416" "GPR98_000184" "g.89914687A>G" "" "{PMID:Besnard 2012:22147658}" "+CviKI_1;-Tsp45I;" "" "heterozygous" "Germline" "" "rs1673379" "0" "" "" "g.90618870A>G" "" "benign" "" "0000373087" "10" "11" "5" "89914687" "89914687" "subst" "0" "02416" "GPR98_000184" "g.89914687A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "+CviKI_1;-Tsp45I;" "" "homozygous" "Germline" "" "rs1673379" "0" "" "" "g.90618870A>G" "" "benign" "" "0000373088" "10" "11" "5" "89914687" "89914687" "subst" "0" "02416" "GPR98_000184" "g.89914687A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "+CviKI_1;-Tsp45I;" "" "homozygous" "Germline" "" "rs1673379" "0" "" "" "g.90618870A>G" "" "benign" "" "0000373089" "10" "11" "5" "89914687" "89914687" "subst" "0" "02416" "GPR98_000184" "g.89914687A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "+CviKI_1;-Tsp45I;" "" "homozygous" "Germline" "" "rs1673379" "0" "" "" "g.90618870A>G" "" "benign" "" "0000373090" "10" "11" "5" "89914687" "89914687" "subst" "0" "02416" "GPR98_000184" "g.89914687A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "+CviKI_1;-Tsp45I;" "" "homozygous" "Germline" "" "rs1673379" "0" "" "" "g.90618870A>G" "" "benign" "" "0000373091" "20" "11" "5" "89914687" "89914687" "subst" "0" "02416" "GPR98_000184" "g.89914687A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "+CviKI_1;-Tsp45I;" "" "homozygous" "Germline" "" "rs1673379" "0" "" "" "g.90618870A>G" "" "benign" "" "0000373092" "20" "11" "5" "89914687" "89914687" "subst" "0" "02416" "GPR98_000184" "g.89914687A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "+CviKI_1;-Tsp45I;" "" "homozygous" "Germline" "" "rs1673379" "0" "" "" "g.90618870A>G" "" "benign" "" "0000373093" "20" "11" "5" "89914687" "89914687" "subst" "0" "02416" "GPR98_000184" "g.89914687A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "+CviKI_1;-Tsp45I;" "" "homozygous" "Germline" "" "rs1673379" "0" "" "" "g.90618870A>G" "" "benign" "" "0000373094" "20" "11" "5" "89914687" "89914687" "subst" "0" "02416" "GPR98_000184" "g.89914687A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "+CviKI_1;-Tsp45I;" "" "homozygous" "Germline" "" "rs1673379" "0" "" "" "g.90618870A>G" "" "benign" "" "0000373095" "0" "11" "5" "89931160" "89931160" "del" "0" "02416" "GPR98_000185" "g.89931160del" "" "{PMID:Besnard 2012:22147658}" "-BsrGI" "" "heterozygous" "Germline" "" "rs3838659" "0" "" "" "g.90635343del" "" "benign" "" "0000373096" "0" "11" "5" "89931160" "89931160" "del" "0" "02416" "GPR98_000185" "g.89931160del" "" "{PMID:Besnard 2012:22147658}" "-BsrGI" "" "heterozygous" "Germline" "" "rs3838659" "0" "" "" "g.90635343del" "" "benign" "" "0000373097" "0" "11" "5" "89931160" "89931160" "del" "0" "02416" "GPR98_000185" "g.89931160del" "" "{PMID:Besnard 2012:22147658}" "-BsrGI" "" "heterozygous" "Germline" "" "rs3838659" "0" "" "" "g.90635343del" "" "benign" "" "0000373098" "10" "11" "5" "89931160" "89931160" "del" "0" "02416" "GPR98_000185" "g.89931160del" "" "{PMID:Garcia-Garcia 2013:23441107}" "-BsrGI" "" "homozygous" "Germline" "" "rs3838659" "0" "" "" "g.90635343del" "" "benign" "" "0000373099" "20" "11" "5" "89931160" "89931160" "del" "0" "02416" "GPR98_000185" "g.89931160del" "" "{PMID:Garcia-Garcia 2013:23441107}" "-BsrGI" "" "homozygous" "Germline" "" "rs3838659" "0" "" "" "g.90635343del" "" "benign" "" "0000373100" "0" "11" "5" "89938434" "89938434" "subst" "0.187379" "02416" "GPR98_000186" "g.89938434G>T" "" "{PMID:Besnard 2012:22147658}" "-BsmAI" "" "heterozygous" "Germline" "" "rs1344030" "0" "" "" "g.90642617G>T" "" "benign" "" "0000373101" "0" "11" "5" "89938434" "89938434" "subst" "0.187379" "02416" "GPR98_000186" "g.89938434G>T" "" "{PMID:Besnard 2012:22147658}" "-BsmAI" "" "heterozygous" "Germline" "" "rs1344030" "0" "" "" "g.90642617G>T" "" "benign" "" "0000373102" "0" "11" "5" "89938434" "89938434" "subst" "0.187379" "02416" "GPR98_000186" "g.89938434G>T" "" "{PMID:Besnard 2012:22147658}" "-BsmAI" "" "heterozygous" "Germline" "" "rs1344030" "0" "" "" "g.90642617G>T" "" "benign" "" "0000373103" "0" "11" "5" "89938434" "89938434" "subst" "0.187379" "02416" "GPR98_000186" "g.89938434G>T" "" "{PMID:Besnard 2012:22147658}" "-BsmAI" "" "heterozygous" "Germline" "" "rs1344030" "0" "" "" "g.90642617G>T" "" "benign" "" "0000373104" "10" "11" "5" "89938434" "89938434" "subst" "0.187379" "02416" "GPR98_000186" "g.89938434G>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "-BsmAI" "" "homozygous" "Germline" "" "rs1344030" "0" "" "" "g.90642617G>T" "" "benign" "" "0000373105" "20" "11" "5" "89938434" "89938434" "subst" "0.187379" "02416" "GPR98_000186" "g.89938434G>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "-BsmAI" "" "homozygous" "Germline" "" "rs1344030" "0" "" "" "g.90642617G>T" "" "benign" "" "0000373106" "0" "11" "5" "89938434" "89938434" "subst" "0.187379" "02416" "GPR98_000186" "g.89938434G>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "-BsmAI" "" "heterozygous" "Germline" "" "rs1344030" "0" "" "" "g.90642617G>T" "" "benign" "" "0000373107" "0" "11" "5" "89940489" "89940489" "subst" "0.191116" "02416" "GPR98_000187" "g.89940489C>G" "" "{PMID:Besnard 2012:22147658}" "-BbsI;-MboII;" "" "heterozygous" "Germline" "" "rs16868901" "0" "" "" "g.90644672C>G" "" "benign" "" "0000373108" "0" "11" "5" "89940489" "89940489" "subst" "0.191116" "02416" "GPR98_000187" "g.89940489C>G" "" "{PMID:Besnard 2012:22147658}" "-BbsI;-MboII;" "" "heterozygous" "Germline" "" "rs16868901" "0" "" "" "g.90644672C>G" "" "benign" "" "0000373109" "0" "11" "5" "89940489" "89940489" "subst" "0.191116" "02416" "GPR98_000187" "g.89940489C>G" "" "{PMID:Besnard 2012:22147658}" "-BbsI;-MboII;" "" "heterozygous" "Germline" "" "rs16868901" "0" "" "" "g.90644672C>G" "" "benign" "" "0000373110" "0" "11" "5" "89940489" "89940489" "subst" "0.191116" "02416" "GPR98_000187" "g.89940489C>G" "" "{PMID:Besnard 2012:22147658}" "-BbsI;-MboII;" "" "heterozygous" "Germline" "" "rs16868901" "0" "" "" "g.90644672C>G" "" "benign" "" "0000373111" "10" "11" "5" "89940489" "89940489" "subst" "0.191116" "02416" "GPR98_000187" "g.89940489C>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "-BbsI;-MboII;" "" "homozygous" "Germline" "" "rs16868901" "0" "" "" "g.90644672C>G" "" "benign" "" "0000373112" "20" "11" "5" "89940489" "89940489" "subst" "0.191116" "02416" "GPR98_000187" "g.89940489C>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "-BbsI;-MboII;" "" "homozygous" "Germline" "" "rs16868901" "0" "" "" "g.90644672C>G" "" "benign" "" "0000373113" "0" "11" "5" "89940489" "89940489" "subst" "0.191116" "02416" "GPR98_000187" "g.89940489C>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "-BbsI;-MboII;" "" "heterozygous" "Germline" "" "rs16868901" "0" "" "" "g.90644672C>G" "" "benign" "" "0000373114" "0" "11" "5" "89940771" "89940771" "subst" "0" "02416" "GPR98_000188" "g.89940771A>G" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs16868903" "0" "" "" "g.90644954A>G" "" "benign" "" "0000373115" "0" "11" "5" "89940771" "89940771" "subst" "0" "02416" "GPR98_000188" "g.89940771A>G" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs16868903" "0" "" "" "g.90644954A>G" "" "benign" "" "0000373116" "0" "11" "5" "89940771" "89940771" "subst" "0" "02416" "GPR98_000188" "g.89940771A>G" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs16868903" "0" "" "" "g.90644954A>G" "" "benign" "" "0000373117" "0" "11" "5" "89940771" "89940771" "subst" "0" "02416" "GPR98_000188" "g.89940771A>G" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs16868903" "0" "" "" "g.90644954A>G" "" "benign" "" "0000373118" "10" "11" "5" "89940771" "89940771" "subst" "0" "02416" "GPR98_000188" "g.89940771A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs16868903" "0" "" "" "g.90644954A>G" "" "benign" "" "0000373119" "20" "11" "5" "89940771" "89940771" "subst" "0" "02416" "GPR98_000188" "g.89940771A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs16868903" "0" "" "" "g.90644954A>G" "" "benign" "" "0000373120" "0" "11" "5" "89940771" "89940771" "subst" "0" "02416" "GPR98_000188" "g.89940771A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "heterozygous" "Germline" "" "rs16868903" "0" "" "" "g.90644954A>G" "" "benign" "" "0000373121" "10" "11" "5" "89941743" "89941743" "subst" "0.203411" "02416" "GPR98_000189" "g.89941743T>C" "" "{PMID:Besnard 2012:22147658}" "+HpyCH4IV;+BsaAI;+SnaBI;" "" "homozygous" "Germline" "" "rs2366776" "0" "" "" "g.90645926T>C" "" "benign" "" "0000373122" "20" "11" "5" "89941743" "89941743" "subst" "0.203411" "02416" "GPR98_000189" "g.89941743T>C" "" "{PMID:Besnard 2012:22147658}" "+HpyCH4IV;+BsaAI;+SnaBI;" "" "homozygous" "Germline" "" "rs2366776" "0" "" "" "g.90645926T>C" "" "benign" "" "0000373123" "0" "11" "5" "89941743" "89941743" "subst" "0.203411" "02416" "GPR98_000189" "g.89941743T>C" "" "{PMID:Besnard 2012:22147658}" "+HpyCH4IV;+BsaAI;+SnaBI;" "" "heterozygous" "Germline" "" "rs2366776" "0" "" "" "g.90645926T>C" "" "benign" "" "0000373124" "0" "11" "5" "89941743" "89941743" "subst" "0.203411" "02416" "GPR98_000189" "g.89941743T>C" "" "{PMID:Besnard 2012:22147658}" "+HpyCH4IV;+BsaAI;+SnaBI;" "" "heterozygous" "Germline" "" "rs2366776" "0" "" "" "g.90645926T>C" "" "benign" "" "0000373125" "0" "11" "5" "89941743" "89941743" "subst" "0.203411" "02416" "GPR98_000189" "g.89941743T>C" "" "{PMID:Besnard 2012:22147658}" "+HpyCH4IV;+BsaAI;+SnaBI;" "" "heterozygous" "Germline" "" "rs2366776" "0" "" "" "g.90645926T>C" "" "benign" "" "0000373126" "10" "11" "5" "89941743" "89941743" "subst" "0.203411" "02416" "GPR98_000189" "g.89941743T>C" "" "{PMID:Garcia-Garcia 2013:23441107}" "+HpyCH4IV;+BsaAI;+SnaBI;" "" "homozygous" "Germline" "" "rs2366776" "0" "" "" "g.90645926T>C" "" "benign" "" "0000373127" "20" "11" "5" "89941743" "89941743" "subst" "0.203411" "02416" "GPR98_000189" "g.89941743T>C" "" "{PMID:Garcia-Garcia 2013:23441107}" "+HpyCH4IV;+BsaAI;+SnaBI;" "" "homozygous" "Germline" "" "rs2366776" "0" "" "" "g.90645926T>C" "" "benign" "" "0000373128" "0" "11" "5" "89941743" "89941743" "subst" "0.203411" "02416" "GPR98_000189" "g.89941743T>C" "" "{PMID:Garcia-Garcia 2013:23441107}" "+HpyCH4IV;+BsaAI;+SnaBI;" "" "heterozygous" "Germline" "" "rs2366776" "0" "" "" "g.90645926T>C" "" "benign" "" "0000373129" "0" "11" "5" "89943433" "89943433" "subst" "0.164856" "02416" "GPR98_000190" "g.89943433A>G" "" "{PMID:Besnard 2012:22147658}" "-HpyCH4V" "" "heterozygous" "Germline" "" "rs950692" "0" "" "" "g.90647616A>G" "" "benign" "" "0000373130" "0" "11" "5" "89943433" "89943433" "subst" "0.164856" "02416" "GPR98_000190" "g.89943433A>G" "" "{PMID:Besnard 2012:22147658}" "-HpyCH4V" "" "heterozygous" "Germline" "" "rs950692" "0" "" "" "g.90647616A>G" "" "benign" "" "0000373131" "0" "11" "5" "89943433" "89943433" "subst" "0.164856" "02416" "GPR98_000190" "g.89943433A>G" "" "{PMID:Besnard 2012:22147658}" "-HpyCH4V" "" "heterozygous" "Germline" "" "rs950692" "0" "" "" "g.90647616A>G" "" "benign" "" "0000373132" "0" "11" "5" "89943433" "89943433" "subst" "0.164856" "02416" "GPR98_000190" "g.89943433A>G" "" "{PMID:Besnard 2012:22147658}" "-HpyCH4V" "" "heterozygous" "Germline" "" "rs950692" "0" "" "" "g.90647616A>G" "" "benign" "" "0000373133" "10" "11" "5" "89943433" "89943433" "subst" "0.164856" "02416" "GPR98_000190" "g.89943433A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "-HpyCH4V" "" "homozygous" "Germline" "" "rs950692" "0" "" "" "g.90647616A>G" "" "benign" "" "0000373134" "20" "11" "5" "89943433" "89943433" "subst" "0.164856" "02416" "GPR98_000190" "g.89943433A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "-HpyCH4V" "" "homozygous" "Germline" "" "rs950692" "0" "" "" "g.90647616A>G" "" "benign" "" "0000373135" "0" "11" "5" "89943433" "89943433" "subst" "0.164856" "02416" "GPR98_000190" "g.89943433A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "-HpyCH4V" "" "heterozygous" "Germline" "" "rs950692" "0" "" "" "g.90647616A>G" "" "benign" "" "0000373136" "0" "11" "5" "89979691" "89979691" "subst" "0.179837" "02416" "GPR98_000191" "g.89979691A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1N1985D:} USMA-{MSV3dQ8WXG9p.Asn1985Asp:}" "none" "" "heterozygous" "Germline" "" "rs41303352" "0" "" "" "g.90683874A>G" "" "benign" "" "0000373137" "0" "11" "5" "89979691" "89979691" "subst" "0.179837" "02416" "GPR98_000191" "g.89979691A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1N1985D:} USMA-{MSV3dQ8WXG9p.Asn1985Asp:}" "none" "" "heterozygous" "Germline" "" "rs41303352" "0" "" "" "g.90683874A>G" "" "benign" "" "0000373138" "0" "11" "5" "89979691" "89979691" "subst" "0.179837" "02416" "GPR98_000191" "g.89979691A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1N1985D:} USMA-{MSV3dQ8WXG9p.Asn1985Asp:}" "none" "" "heterozygous" "Germline" "" "rs41303352" "0" "" "" "g.90683874A>G" "" "benign" "" "0000373139" "0" "11" "5" "89979691" "89979691" "subst" "0.179837" "02416" "GPR98_000191" "g.89979691A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1N1985D:} USMA-{MSV3dQ8WXG9p.Asn1985Asp:}" "none" "" "heterozygous" "Germline" "" "rs41303352" "0" "" "" "g.90683874A>G" "" "benign" "" "0000373140" "10" "11" "5" "89979691" "89979691" "subst" "0.179837" "02416" "GPR98_000191" "g.89979691A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1N1985D:} USMA-{MSV3dQ8WXG9p.Asn1985Asp:}" "none" "" "homozygous" "Germline" "" "rs41303352" "0" "" "" "g.90683874A>G" "" "benign" "" "0000373141" "20" "11" "5" "89979691" "89979691" "subst" "0.179837" "02416" "GPR98_000191" "g.89979691A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1N1985D:} USMA-{MSV3dQ8WXG9p.Asn1985Asp:}" "none" "" "homozygous" "Germline" "" "rs41303352" "0" "" "" "g.90683874A>G" "" "benign" "" "0000373142" "0" "11" "5" "89979691" "89979691" "subst" "0.179837" "02416" "GPR98_000191" "g.89979691A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1N1985D:} USMA-{MSV3dQ8WXG9p.Asn1985Asp:}" "none" "" "heterozygous; non causative" "Germline" "" "rs41303352" "0" "" "" "g.90683874A>G" "" "benign" "" "0000373143" "0" "11" "5" "89979691" "89979691" "subst" "0.179837" "02416" "GPR98_000191" "g.89979691A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1N1985D:} USMA-{MSV3dQ8WXG9p.Asn1985Asp:}" "none" "" "heterozygous; non causative" "Germline" "" "rs41303352" "0" "" "" "g.90683874A>G" "" "benign" "" "0000373144" "0" "99" "5" "89990343" "89990343" "del" "0" "02416" "GPR98_000192" "g.89990343del" "" "{PMID:Besnard 2012:22147658}" "+BstBI;+TaqI;-Hpy188I;" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90694526del" "" "pathogenic" "" "0000373145" "0" "11" "5" "89999735" "89999735" "subst" "0" "02416" "GPR98_000193" "g.89999735G>A" "" "{PMID:Besnard 2012:22147658}" "+NdeI" "" "heterozygous" "Germline" "" "rs11959270" "0" "" "" "g.90703918G>A" "" "benign" "" "0000373146" "0" "11" "5" "89999735" "89999735" "subst" "0" "02416" "GPR98_000193" "g.89999735G>A" "" "{PMID:Besnard 2012:22147658}" "+NdeI" "" "heterozygous" "Germline" "" "rs11959270" "0" "" "" "g.90703918G>A" "" "benign" "" "0000373147" "0" "11" "5" "89999735" "89999735" "subst" "0" "02416" "GPR98_000193" "g.89999735G>A" "" "{PMID:Besnard 2012:22147658}" "+NdeI" "" "heterozygous" "Germline" "" "rs11959270" "0" "" "" "g.90703918G>A" "" "benign" "" "0000373148" "10" "11" "5" "89999735" "89999735" "subst" "0" "02416" "GPR98_000193" "g.89999735G>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "+NdeI" "" "homozygous" "Germline" "" "rs11959270" "0" "" "" "g.90703918G>A" "" "benign" "" "0000373149" "20" "11" "5" "89999735" "89999735" "subst" "0" "02416" "GPR98_000193" "g.89999735G>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "+NdeI" "" "homozygous" "Germline" "" "rs11959270" "0" "" "" "g.90703918G>A" "" "benign" "" "0000373150" "0" "11" "5" "89999735" "89999735" "subst" "0" "02416" "GPR98_000193" "g.89999735G>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "+NdeI" "" "heterozygous" "Germline" "" "rs11959270" "0" "" "" "g.90703918G>A" "" "benign" "" "0000373151" "0" "11" "5" "90001368" "90001368" "subst" "0.179303" "02416" "GPR98_000194" "g.90001368T>G" "" "{PMID:Besnard 2012:22147658}" "+PvuII;+MspA1I;" "" "heterozygous" "Germline" "" "rs6880570" "0" "" "" "g.90705551T>G" "" "benign" "" "0000373152" "0" "11" "5" "90001368" "90001368" "subst" "0.179303" "02416" "GPR98_000194" "g.90001368T>G" "" "{PMID:Besnard 2012:22147658}" "+PvuII;+MspA1I;" "" "heterozygous" "Germline" "" "rs6880570" "0" "" "" "g.90705551T>G" "" "benign" "" "0000373153" "0" "11" "5" "90001368" "90001368" "subst" "0.179303" "02416" "GPR98_000194" "g.90001368T>G" "" "{PMID:Besnard 2012:22147658}" "+PvuII;+MspA1I;" "" "heterozygous" "Germline" "" "rs6880570" "0" "" "" "g.90705551T>G" "" "benign" "" "0000373154" "0" "11" "5" "90001368" "90001368" "subst" "0.179303" "02416" "GPR98_000194" "g.90001368T>G" "" "{PMID:Besnard 2012:22147658}" "+PvuII;+MspA1I;" "" "heterozygous" "Germline" "" "rs6880570" "0" "" "" "g.90705551T>G" "" "benign" "" "0000373155" "10" "11" "5" "90001368" "90001368" "subst" "0.179303" "02416" "GPR98_000194" "g.90001368T>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "+PvuII;+MspA1I;" "" "homozygous" "Germline" "" "rs6880570" "0" "" "" "g.90705551T>G" "" "benign" "" "0000373156" "20" "11" "5" "90001368" "90001368" "subst" "0.179303" "02416" "GPR98_000194" "g.90001368T>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "+PvuII;+MspA1I;" "" "homozygous" "Germline" "" "rs6880570" "0" "" "" "g.90705551T>G" "" "benign" "" "0000373157" "0" "11" "5" "90001368" "90001368" "subst" "0.179303" "02416" "GPR98_000194" "g.90001368T>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "+PvuII;+MspA1I;" "" "heterozygous" "Germline" "" "rs6880570" "0" "" "" "g.90705551T>G" "" "benign" "" "0000373158" "0" "11" "5" "90001988" "90001988" "subst" "0" "02416" "GPR98_000195" "g.90001988G>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs1160121" "0" "" "" "g.90706171G>T" "" "benign" "" "0000373159" "0" "11" "5" "90001988" "90001988" "subst" "0" "02416" "GPR98_000195" "g.90001988G>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs1160121" "0" "" "" "g.90706171G>T" "" "benign" "" "0000373160" "10" "11" "5" "90001988" "90001988" "subst" "0" "02416" "GPR98_000195" "g.90001988G>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs1160121" "0" "" "" "g.90706171G>T" "" "benign" "" "0000373161" "20" "11" "5" "90001988" "90001988" "subst" "0" "02416" "GPR98_000195" "g.90001988G>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs1160121" "0" "" "" "g.90706171G>T" "" "benign" "" "0000373162" "10" "11" "5" "90001988" "90001988" "subst" "0" "02416" "GPR98_000195" "g.90001988G>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs1160121" "0" "" "" "g.90706171G>T" "" "benign" "" "0000373163" "20" "11" "5" "90001988" "90001988" "subst" "0" "02416" "GPR98_000195" "g.90001988G>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs1160121" "0" "" "" "g.90706171G>T" "" "benign" "" "0000373164" "10" "11" "5" "90001988" "90001988" "subst" "0" "02416" "GPR98_000195" "g.90001988G>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs1160121" "0" "" "" "g.90706171G>T" "" "benign" "" "0000373165" "20" "11" "5" "90001988" "90001988" "subst" "0" "02416" "GPR98_000195" "g.90001988G>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs1160121" "0" "" "" "g.90706171G>T" "" "benign" "" "0000373166" "10" "11" "5" "90001988" "90001988" "subst" "0" "02416" "GPR98_000195" "g.90001988G>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs1160121" "0" "" "" "g.90706171G>T" "" "benign" "" "0000373167" "20" "11" "5" "90001988" "90001988" "subst" "0" "02416" "GPR98_000195" "g.90001988G>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs1160121" "0" "" "" "g.90706171G>T" "" "benign" "" "0000373168" "0" "11" "5" "90012703" "90012703" "subst" "0" "02416" "GPR98_000196" "g.90012703G>A" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs3927265" "0" "" "" "g.90716886G>A" "" "benign" "" "0000373169" "10" "11" "5" "90012703" "90012703" "subst" "0" "02416" "GPR98_000196" "g.90012703G>A" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs3927265" "0" "" "" "g.90716886G>A" "" "benign" "" "0000373170" "20" "11" "5" "90012703" "90012703" "subst" "0" "02416" "GPR98_000196" "g.90012703G>A" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs3927265" "0" "" "" "g.90716886G>A" "" "benign" "" "0000373171" "10" "11" "5" "90012703" "90012703" "subst" "0" "02416" "GPR98_000196" "g.90012703G>A" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs3927265" "0" "" "" "g.90716886G>A" "" "benign" "" "0000373172" "20" "11" "5" "90012703" "90012703" "subst" "0" "02416" "GPR98_000196" "g.90012703G>A" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs3927265" "0" "" "" "g.90716886G>A" "" "benign" "" "0000373173" "10" "11" "5" "90012703" "90012703" "subst" "0" "02416" "GPR98_000196" "g.90012703G>A" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs3927265" "0" "" "" "g.90716886G>A" "" "benign" "" "0000373174" "20" "11" "5" "90012703" "90012703" "subst" "0" "02416" "GPR98_000196" "g.90012703G>A" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs3927265" "0" "" "" "g.90716886G>A" "" "benign" "" "0000373175" "10" "11" "5" "90012703" "90012703" "subst" "0" "02416" "GPR98_000196" "g.90012703G>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs3927265" "0" "" "" "g.90716886G>A" "" "benign" "" "0000373176" "20" "11" "5" "90012703" "90012703" "subst" "0" "02416" "GPR98_000196" "g.90012703G>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs3927265" "0" "" "" "g.90716886G>A" "" "benign" "" "0000373177" "10" "11" "5" "90012703" "90012703" "subst" "0" "02416" "GPR98_000196" "g.90012703G>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs3927265" "0" "" "" "g.90716886G>A" "" "benign" "" "0000373178" "20" "11" "5" "90012703" "90012703" "subst" "0" "02416" "GPR98_000196" "g.90012703G>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs3927265" "0" "" "" "g.90716886G>A" "" "benign" "" "0000373179" "10" "11" "5" "90012703" "90012703" "subst" "0" "02416" "GPR98_000196" "g.90012703G>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs3927265" "0" "" "" "g.90716886G>A" "" "benign" "" "0000373180" "20" "11" "5" "90012703" "90012703" "subst" "0" "02416" "GPR98_000196" "g.90012703G>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs3927265" "0" "" "" "g.90716886G>A" "" "benign" "" "0000373181" "0" "11" "5" "90016129" "90016129" "subst" "0" "02416" "GPR98_000197" "g.90016129A>G" "" "{PMID:Besnard 2012:22147658}" "-EcoRV" "" "heterozygous" "Germline" "" "rs6452906" "0" "" "" "g.90720312A>G" "" "benign" "" "0000373182" "0" "11" "5" "90021499" "90021499" "subst" "0" "02416" "GPR98_000198" "g.90021499G>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs4916815" "0" "" "" "g.90725682G>T" "" "benign" "" "0000373183" "0" "11" "5" "90021499" "90021499" "subst" "0" "02416" "GPR98_000198" "g.90021499G>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs4916815" "0" "" "" "g.90725682G>T" "" "benign" "" "0000373184" "0" "11" "5" "90021499" "90021499" "subst" "0" "02416" "GPR98_000198" "g.90021499G>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs4916815" "0" "" "" "g.90725682G>T" "" "benign" "" "0000373185" "0" "11" "5" "90021499" "90021499" "subst" "0" "02416" "GPR98_000198" "g.90021499G>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs4916815" "0" "" "" "g.90725682G>T" "" "benign" "" "0000373186" "10" "11" "5" "90021499" "90021499" "subst" "0" "02416" "GPR98_000198" "g.90021499G>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs4916815" "0" "" "" "g.90725682G>T" "" "benign" "" "0000373187" "20" "11" "5" "90021499" "90021499" "subst" "0" "02416" "GPR98_000198" "g.90021499G>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs4916815" "0" "" "" "g.90725682G>T" "" "benign" "" "0000373188" "10" "11" "5" "90021499" "90021499" "subst" "0" "02416" "GPR98_000198" "g.90021499G>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs4916815" "0" "" "" "g.90725682G>T" "" "benign" "" "0000373189" "20" "11" "5" "90021499" "90021499" "subst" "0" "02416" "GPR98_000198" "g.90021499G>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs4916815" "0" "" "" "g.90725682G>T" "" "benign" "" "0000373190" "10" "11" "5" "90021499" "90021499" "subst" "0" "02416" "GPR98_000198" "g.90021499G>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs4916815" "0" "" "" "g.90725682G>T" "" "benign" "" "0000373191" "20" "11" "5" "90021499" "90021499" "subst" "0" "02416" "GPR98_000198" "g.90021499G>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs4916815" "0" "" "" "g.90725682G>T" "" "benign" "" "0000373192" "10" "11" "5" "90021499" "90021499" "subst" "0" "02416" "GPR98_000198" "g.90021499G>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs4916815" "0" "" "" "g.90725682G>T" "" "benign" "" "0000373193" "20" "11" "5" "90021499" "90021499" "subst" "0" "02416" "GPR98_000198" "g.90021499G>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs4916815" "0" "" "" "g.90725682G>T" "" "benign" "" "0000373194" "10" "11" "5" "90021499" "90021499" "subst" "0" "02416" "GPR98_000198" "g.90021499G>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs4916815" "0" "" "" "g.90725682G>T" "" "benign" "" "0000373195" "20" "11" "5" "90021499" "90021499" "subst" "0" "02416" "GPR98_000198" "g.90021499G>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs4916815" "0" "" "" "g.90725682G>T" "" "benign" "" "0000373196" "10" "11" "5" "90021499" "90021499" "subst" "0" "02416" "GPR98_000198" "g.90021499G>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs4916815" "0" "" "" "g.90725682G>T" "" "benign" "" "0000373197" "20" "11" "5" "90021499" "90021499" "subst" "0" "02416" "GPR98_000198" "g.90021499G>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs4916815" "0" "" "" "g.90725682G>T" "" "benign" "" "0000373198" "10" "11" "5" "90021499" "90021499" "subst" "0" "02416" "GPR98_000198" "g.90021499G>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs4916815" "0" "" "" "g.90725682G>T" "" "benign" "" "0000373199" "20" "11" "5" "90021499" "90021499" "subst" "0" "02416" "GPR98_000198" "g.90021499G>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs4916815" "0" "" "" "g.90725682G>T" "" "benign" "" "0000373200" "0" "11" "5" "90021292" "90021292" "subst" "0" "02416" "GPR98_000199" "g.90021292A>G" "" "{PMID:Besnard 2012:22147658}" "+BssSI;-FatI;-NlaIII;-CviAII;" "" "heterozygous" "Germline" "" "rs16869043" "0" "" "" "g.90725475A>G" "" "benign" "" "0000373201" "0" "11" "5" "90021292" "90021292" "subst" "0" "02416" "GPR98_000199" "g.90021292A>G" "" "{PMID:Besnard 2012:22147658}" "+BssSI;-FatI;-NlaIII;-CviAII;" "" "heterozygous" "Germline" "" "rs16869043" "0" "" "" "g.90725475A>G" "" "benign" "" "0000373202" "10" "11" "5" "90021292" "90021292" "subst" "0" "02416" "GPR98_000199" "g.90021292A>G" "" "{PMID:Besnard 2012:22147658}" "+BssSI;-FatI;-NlaIII;-CviAII;" "" "homozygous" "Germline" "" "rs16869043" "0" "" "" "g.90725475A>G" "" "benign" "" "0000373203" "20" "11" "5" "90021292" "90021292" "subst" "0" "02416" "GPR98_000199" "g.90021292A>G" "" "{PMID:Besnard 2012:22147658}" "+BssSI;-FatI;-NlaIII;-CviAII;" "" "homozygous" "Germline" "" "rs16869043" "0" "" "" "g.90725475A>G" "" "benign" "" "0000373204" "10" "11" "5" "90021292" "90021292" "subst" "0" "02416" "GPR98_000199" "g.90021292A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "+BssSI;-FatI;-NlaIII;-CviAII;" "" "homozygous" "Germline" "" "rs16869043" "0" "" "" "g.90725475A>G" "" "benign" "" "0000373205" "20" "11" "5" "90021292" "90021292" "subst" "0" "02416" "GPR98_000199" "g.90021292A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "+BssSI;-FatI;-NlaIII;-CviAII;" "" "homozygous" "Germline" "" "rs16869043" "0" "" "" "g.90725475A>G" "" "benign" "" "0000373206" "0" "11" "5" "90021292" "90021292" "subst" "0" "02416" "GPR98_000199" "g.90021292A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "+BssSI;-FatI;-NlaIII;-CviAII;" "" "heterozygous" "Germline" "" "rs16869043" "0" "" "" "g.90725475A>G" "" "benign" "" "0000373207" "0" "11" "5" "90144642" "90144645" "del" "0" "02416" "GPR98_000200" "g.90144642_90144645del" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous; UV4" "Germline" "" "" "0" "" "" "g.90848825_90848828del" "" "likely pathogenic" "ACMG" "0000373208" "10" "95" "5" "90144642" "90144645" "del" "0" "02416" "GPR98_000200" "g.90144642_90144645del" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90848825_90848828del" "" "likely pathogenic" "ACMG" "0000373209" "20" "95" "5" "90144642" "90144645" "del" "0" "02416" "GPR98_000200" "g.90144642_90144645del" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90848825_90848828del" "" "likely pathogenic" "ACMG" "0000373210" "0" "11" "5" "90449154" "90449154" "subst" "0.117534" "02416" "GPR98_000201" "g.90449154G>A" "" "{PMID:Besnard 2012:22147658}" "+AlwI;+Sau3AI;+MboI;+DpnI;+BfuCI;-Tsp45I;" "" "heterozygous" "Germline" "" "rs13158963" "0" "" "" "g.91153337G>A" "" "benign" "" "0000373211" "0" "11" "5" "90449154" "90449154" "subst" "0.117534" "02416" "GPR98_000201" "g.90449154G>A" "" "{PMID:Besnard 2012:22147658}" "+AlwI;+Sau3AI;+MboI;+DpnI;+BfuCI;-Tsp45I;" "" "heterozygous" "Germline" "" "rs13158963" "0" "" "" "g.91153337G>A" "" "benign" "" "0000373212" "0" "11" "5" "89918334" "89918334" "subst" "0" "02416" "GPR98_000202" "g.89918334G>T" "" "{PMID:Besnard 2012:22147658}" "+AluI;+CviKI_1;" "" "heterozygous" "Germline" "" "rs16868864" "0" "" "" "g.90622517G>T" "" "benign" "" "0000373213" "21" "99" "5" "89949336" "89949336" "dup" "0" "02416" "GPR98_000203" "g.89949336dup" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90653519dup" "" "pathogenic" "" "0000373214" "0" "15" "5" "90021508" "90021508" "del" "0" "02416" "GPR98_000204" "g.90021508del" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs11310205" "0" "" "" "g.90725691del" "" "likely benign" "ACMG" "0000373215" "0" "15" "5" "90021508" "90021508" "del" "0" "02416" "GPR98_000204" "g.90021508del" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs11310205" "0" "" "" "g.90725691del" "" "likely benign" "ACMG" "0000373216" "0" "15" "5" "90021508" "90021508" "del" "0" "02416" "GPR98_000204" "g.90021508del" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs11310205" "0" "" "" "g.90725691del" "" "likely benign" "ACMG" "0000373217" "0" "15" "5" "90021508" "90021508" "del" "0" "02416" "GPR98_000204" "g.90021508del" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs11310205" "0" "" "" "g.90725691del" "" "likely benign" "ACMG" "0000373218" "10" "11" "5" "90059001" "90059001" "subst" "0" "02416" "GPR98_000205" "g.90059001T>A" "" "{PMID:Besnard 2012:22147658}" "-Tsp509I" "" "homozygous" "Germline" "" "" "0" "" "" "g.90763184T>A" "" "benign" "" "0000373219" "20" "11" "5" "90059001" "90059001" "subst" "0" "02416" "GPR98_000205" "g.90059001T>A" "" "{PMID:Besnard 2012:22147658}" "-Tsp509I" "" "homozygous" "Germline" "" "" "0" "" "" "g.90763184T>A" "" "benign" "" "0000373220" "11" "75" "5" "90261308" "90261308" "subst" "0" "02416" "GPR98_000206" "g.90261308A>G" "0/170 controls" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1H5978R:} USMA-{MSV3dQ8WXG9p.His5978Arg:}" "+HpyCH4IV;+AflIII;" "" "heterozygous; UV3" "Germline" "" "" "0" "" "" "g.90965491A>G" "" "VUS" "ACMG" "0000373221" "21" "75" "5" "90261308" "90261308" "subst" "0" "02416" "GPR98_000206" "g.90261308A>G" "0/170 controls" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1H5978R:} USMA-{MSV3dQ8WXG9p.His5978Arg:}" "+HpyCH4IV;+AflIII;" "" "heterozygous; UV3" "Germline" "" "" "0" "" "" "g.90965491A>G" "" "VUS" "ACMG" "0000373222" "0" "11" "5" "90398014" "90398014" "subst" "0.0754636" "02416" "GPR98_000207" "g.90398014A>G" "" "{PMID:Besnard 2012:22147658}" "-Tsp509I;-ApoI;" "" "heterozygous" "Germline" "" "rs3749605" "0" "" "" "g.91102197A>G" "" "benign" "" "0000373223" "0" "11" "5" "90459521" "90459521" "subst" "0" "02416" "GPR98_000208" "g.90459521G>C" "" "{PMID:Besnard 2012:22147658}" "+HpyCH4V;+Cac8I;-Sau96I;-AvaII;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.91163704G>C" "" "likely benign" "ACMG" "0000373224" "0" "11" "5" "89925410" "89925410" "subst" "0" "02416" "GPR98_000209" "g.89925410C>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs56360530" "0" "" "" "g.90629593C>T" "" "benign" "" "0000373225" "0" "11" "5" "89925410" "89925410" "subst" "0" "02416" "GPR98_000209" "g.89925410C>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs56360530" "0" "" "" "g.90629593C>T" "" "benign" "" "0000373226" "10" "11" "5" "89925410" "89925410" "subst" "0" "02416" "GPR98_000209" "g.89925410C>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs56360530" "0" "" "" "g.90629593C>T" "" "benign" "" "0000373227" "20" "11" "5" "89925410" "89925410" "subst" "0" "02416" "GPR98_000209" "g.89925410C>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs56360530" "0" "" "" "g.90629593C>T" "" "benign" "" "0000373228" "10" "11" "5" "89925410" "89925410" "subst" "0" "02416" "GPR98_000209" "g.89925410C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs56360530" "0" "" "" "g.90629593C>T" "" "benign" "" "0000373229" "20" "11" "5" "89925410" "89925410" "subst" "0" "02416" "GPR98_000209" "g.89925410C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs56360530" "0" "" "" "g.90629593C>T" "" "benign" "" "0000373230" "0" "11" "5" "89925410" "89925410" "subst" "0" "02416" "GPR98_000209" "g.89925410C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "heterozygous" "Germline" "" "rs56360530" "0" "" "" "g.90629593C>T" "" "benign" "" "0000373231" "0" "11" "5" "89990545" "89990545" "subst" "0.561358" "02416" "GPR98_000210" "g.89990545C>A" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs10068473" "0" "" "" "g.90694728C>A" "" "benign" "" "0000373232" "0" "11" "5" "89990545" "89990545" "subst" "0.561358" "02416" "GPR98_000210" "g.89990545C>A" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs10068473" "0" "" "" "g.90694728C>A" "" "benign" "" "0000373233" "0" "11" "5" "89990545" "89990545" "subst" "0.561358" "02416" "GPR98_000210" "g.89990545C>A" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs10068473" "0" "" "" "g.90694728C>A" "" "benign" "" "0000373234" "10" "11" "5" "89990545" "89990545" "subst" "0.561358" "02416" "GPR98_000210" "g.89990545C>A" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs10068473" "0" "" "" "g.90694728C>A" "" "benign" "" "0000373235" "20" "11" "5" "89990545" "89990545" "subst" "0.561358" "02416" "GPR98_000210" "g.89990545C>A" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs10068473" "0" "" "" "g.90694728C>A" "" "benign" "" "0000373236" "10" "11" "5" "89990545" "89990545" "subst" "0.561358" "02416" "GPR98_000210" "g.89990545C>A" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs10068473" "0" "" "" "g.90694728C>A" "" "benign" "" "0000373237" "20" "11" "5" "89990545" "89990545" "subst" "0.561358" "02416" "GPR98_000210" "g.89990545C>A" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs10068473" "0" "" "" "g.90694728C>A" "" "benign" "" "0000373238" "10" "11" "5" "89990545" "89990545" "subst" "0.561358" "02416" "GPR98_000210" "g.89990545C>A" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs10068473" "0" "" "" "g.90694728C>A" "" "benign" "" "0000373239" "20" "11" "5" "89990545" "89990545" "subst" "0.561358" "02416" "GPR98_000210" "g.89990545C>A" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs10068473" "0" "" "" "g.90694728C>A" "" "benign" "" "0000373240" "10" "11" "5" "89990545" "89990545" "subst" "0.561358" "02416" "GPR98_000210" "g.89990545C>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs10068473" "0" "" "" "g.90694728C>A" "" "benign" "" "0000373241" "20" "11" "5" "89990545" "89990545" "subst" "0.561358" "02416" "GPR98_000210" "g.89990545C>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs10068473" "0" "" "" "g.90694728C>A" "" "benign" "" "0000373242" "10" "11" "5" "89990545" "89990545" "subst" "0.561358" "02416" "GPR98_000210" "g.89990545C>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs10068473" "0" "" "" "g.90694728C>A" "" "benign" "" "0000373243" "20" "11" "5" "89990545" "89990545" "subst" "0.561358" "02416" "GPR98_000210" "g.89990545C>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs10068473" "0" "" "" "g.90694728C>A" "" "benign" "" "0000373244" "0" "95" "5" "90007139" "90007139" "subst" "4.31697E-6" "02416" "GPR98_000211" "g.90007139G>C" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1M3014I:} USMA-{MSV3dQ8WXG9p.Met3014Ile:}" "-MslI" "" "heterozygous; inigene demonstrated splicing alteration; UV4" "Germline" "" "" "0" "" "" "g.90711322G>C" "" "likely pathogenic" "ACMG" "0000373245" "0" "99" "5" "90041573" "90041576" "del" "0" "02416" "GPR98_000212" "g.90041573_90041576del" "" "{PMID:Besnard 2012:22147658}" "+MslI" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90745756_90745759del" "" "pathogenic" "" "0000373246" "0" "35" "5" "89918581" "89918581" "subst" "0" "02416" "GPR98_000213" "g.89918581A>G" "" "{PMID:Besnard 2012:22147658}" "+MnlI;-BsmAI;-HpyCH4III;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90622764A>G" "" "likely benign" "ACMG" "0000373247" "0" "11" "5" "89979380" "89979380" "subst" "0.378738" "02416" "GPR98_000214" "g.89979380T>C" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs4916683" "0" "" "" "g.90683563T>C" "" "benign" "" "0000373248" "0" "11" "5" "89979380" "89979380" "subst" "0.378738" "02416" "GPR98_000214" "g.89979380T>C" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs4916683" "0" "" "" "g.90683563T>C" "" "benign" "" "0000373249" "0" "11" "5" "89979380" "89979380" "subst" "0.378738" "02416" "GPR98_000214" "g.89979380T>C" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs4916683" "0" "" "" "g.90683563T>C" "" "benign" "" "0000373250" "0" "11" "5" "89979380" "89979380" "subst" "0.378738" "02416" "GPR98_000214" "g.89979380T>C" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs4916683" "0" "" "" "g.90683563T>C" "" "benign" "" "0000373251" "10" "11" "5" "89979380" "89979380" "subst" "0.378738" "02416" "GPR98_000214" "g.89979380T>C" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs4916683" "0" "" "" "g.90683563T>C" "" "benign" "" "0000373252" "20" "11" "5" "89979380" "89979380" "subst" "0.378738" "02416" "GPR98_000214" "g.89979380T>C" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "rs4916683" "0" "" "" "g.90683563T>C" "" "benign" "" "0000373253" "0" "11" "5" "89979380" "89979380" "subst" "0.378738" "02416" "GPR98_000214" "g.89979380T>C" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs4916683" "0" "" "" "g.90683563T>C" "" "benign" "" "0000373254" "10" "11" "5" "89979380" "89979380" "subst" "0.378738" "02416" "GPR98_000214" "g.89979380T>C" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs4916683" "0" "" "" "g.90683563T>C" "" "benign" "" "0000373255" "20" "11" "5" "89979380" "89979380" "subst" "0.378738" "02416" "GPR98_000214" "g.89979380T>C" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "rs4916683" "0" "" "" "g.90683563T>C" "" "benign" "" "0000373256" "0" "11" "5" "89979380" "89979380" "subst" "0.378738" "02416" "GPR98_000214" "g.89979380T>C" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "heterozygous" "Germline" "" "rs4916683" "0" "" "" "g.90683563T>C" "" "benign" "" "0000373257" "0" "11" "5" "89979698" "89979698" "subst" "0.363545" "02416" "GPR98_000215" "g.89979698C>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1P1987L:} USMA-{MSV3dQ8WXG9p.Pro1987Leu:}" "none" "" "heterozygous" "Germline" "" "rs4916685" "0" "" "" "g.90683881C>T" "" "benign" "" "0000373258" "0" "11" "5" "89979698" "89979698" "subst" "0.363545" "02416" "GPR98_000215" "g.89979698C>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1P1987L:} USMA-{MSV3dQ8WXG9p.Pro1987Leu:}" "none" "" "heterozygous" "Germline" "" "rs4916685" "0" "" "" "g.90683881C>T" "" "benign" "" "0000373259" "0" "11" "5" "89979698" "89979698" "subst" "0.363545" "02416" "GPR98_000215" "g.89979698C>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1P1987L:} USMA-{MSV3dQ8WXG9p.Pro1987Leu:}" "none" "" "heterozygous" "Germline" "" "rs4916685" "0" "" "" "g.90683881C>T" "" "benign" "" "0000373260" "10" "11" "5" "89979698" "89979698" "subst" "0.363545" "02416" "GPR98_000215" "g.89979698C>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1P1987L:} USMA-{MSV3dQ8WXG9p.Pro1987Leu:}" "none" "" "homozygous" "Germline" "" "rs4916685" "0" "" "" "g.90683881C>T" "" "benign" "" "0000373261" "20" "11" "5" "89979698" "89979698" "subst" "0.363545" "02416" "GPR98_000215" "g.89979698C>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1P1987L:} USMA-{MSV3dQ8WXG9p.Pro1987Leu:}" "none" "" "homozygous" "Germline" "" "rs4916685" "0" "" "" "g.90683881C>T" "" "benign" "" "0000373262" "10" "11" "5" "89979698" "89979698" "subst" "0.363545" "02416" "GPR98_000215" "g.89979698C>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1P1987L:} USMA-{MSV3dQ8WXG9p.Pro1987Leu:}" "none" "" "homozygous" "Germline" "" "rs4916685" "0" "" "" "g.90683881C>T" "" "benign" "" "0000373263" "20" "11" "5" "89979698" "89979698" "subst" "0.363545" "02416" "GPR98_000215" "g.89979698C>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1P1987L:} USMA-{MSV3dQ8WXG9p.Pro1987Leu:}" "none" "" "homozygous" "Germline" "" "rs4916685" "0" "" "" "g.90683881C>T" "" "benign" "" "0000373264" "0" "11" "5" "89979698" "89979698" "subst" "0.363545" "02416" "GPR98_000215" "g.89979698C>T" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1P1987L:} USMA-{MSV3dQ8WXG9p.Pro1987Leu:}" "none" "" "heterozygous" "Germline" "" "rs4916685" "0" "" "" "g.90683881C>T" "" "benign" "" "0000373265" "10" "11" "5" "89979698" "89979698" "subst" "0.363545" "02416" "GPR98_000215" "g.89979698C>T" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1P1987L:} USMA-{MSV3dQ8WXG9p.Pro1987Leu:}" "none" "" "homozygous" "Germline" "" "rs4916685" "0" "" "" "g.90683881C>T" "" "benign" "" "0000373266" "20" "11" "5" "89979698" "89979698" "subst" "0.363545" "02416" "GPR98_000215" "g.89979698C>T" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1P1987L:} USMA-{MSV3dQ8WXG9p.Pro1987Leu:}" "none" "" "homozygous" "Germline" "" "rs4916685" "0" "" "" "g.90683881C>T" "" "benign" "" "0000373267" "0" "11" "5" "89979698" "89979698" "subst" "0.363545" "02416" "GPR98_000215" "g.89979698C>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1P1987L:} USMA-{MSV3dQ8WXG9p.Pro1987Leu:}" "none" "" "heterozygous; non causative" "Germline" "" "rs4916685" "0" "" "" "g.90683881C>T" "" "benign" "" "0000373268" "10" "11" "5" "89979698" "89979698" "subst" "0.363545" "02416" "GPR98_000215" "g.89979698C>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1P1987L:} USMA-{MSV3dQ8WXG9p.Pro1987Leu:}" "none" "" "homozygous; non causative" "Germline" "" "rs4916685" "0" "" "" "g.90683881C>T" "" "benign" "" "0000373269" "20" "11" "5" "89979698" "89979698" "subst" "0.363545" "02416" "GPR98_000215" "g.89979698C>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1P1987L:} USMA-{MSV3dQ8WXG9p.Pro1987Leu:}" "none" "" "homozygous; non causative" "Germline" "" "rs4916685" "0" "" "" "g.90683881C>T" "" "benign" "" "0000373270" "0" "11" "5" "89979698" "89979698" "subst" "0.363545" "02416" "GPR98_000215" "g.89979698C>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1P1987L:} USMA-{MSV3dQ8WXG9p.Pro1987Leu:}" "none" "" "heterozygous; non causative" "Germline" "" "rs4916685" "0" "" "" "g.90683881C>T" "" "benign" "" "0000373271" "10" "11" "5" "89988412" "89988412" "subst" "0.347653" "02416" "GPR98_000216" "g.89988412G>A" "" "{PMID:Besnard 2012:22147658}" "-HpyCH4III;-TspRI;" "" "homozygous" "Germline" "" "rs10040165" "0" "" "" "g.90692595G>A" "" "benign" "" "0000373272" "20" "11" "5" "89988412" "89988412" "subst" "0.347653" "02416" "GPR98_000216" "g.89988412G>A" "" "{PMID:Besnard 2012:22147658}" "-HpyCH4III;-TspRI;" "" "homozygous" "Germline" "" "rs10040165" "0" "" "" "g.90692595G>A" "" "benign" "" "0000373273" "10" "11" "5" "89988412" "89988412" "subst" "0.347653" "02416" "GPR98_000216" "g.89988412G>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "-HpyCH4III;-TspRI;" "" "homozygous" "Germline" "" "rs10040165" "0" "" "" "g.90692595G>A" "" "benign" "" "0000373274" "20" "11" "5" "89988412" "89988412" "subst" "0.347653" "02416" "GPR98_000216" "g.89988412G>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "-HpyCH4III;-TspRI;" "" "homozygous" "Germline" "" "rs10040165" "0" "" "" "g.90692595G>A" "" "benign" "" "0000373275" "0" "11" "5" "89988412" "89988412" "subst" "0.347653" "02416" "GPR98_000216" "g.89988412G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "-HpyCH4III;-TspRI;" "" "heterozygous" "Germline" "" "rs10040165" "0" "" "" "g.90692595G>A" "" "benign" "" "0000373276" "0" "11" "5" "89988412" "89988412" "subst" "0.347653" "02416" "GPR98_000216" "g.89988412G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "-HpyCH4III;-TspRI;" "" "heterozygous" "Germline" "" "rs10040165" "0" "" "" "g.90692595G>A" "" "benign" "" "0000373277" "0" "11" "5" "89988412" "89988412" "subst" "0.347653" "02416" "GPR98_000216" "g.89988412G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "-HpyCH4III;-TspRI;" "" "heterozygous" "Germline" "" "rs10040165" "0" "" "" "g.90692595G>A" "" "benign" "" "0000373278" "0" "11" "5" "89988412" "89988412" "subst" "0.347653" "02416" "GPR98_000216" "g.89988412G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "-HpyCH4III;-TspRI;" "" "heterozygous" "Germline" "" "rs10040165" "0" "" "" "g.90692595G>A" "" "benign" "" "0000373279" "11" "11" "5" "89988412" "89988412" "subst" "0.347653" "02416" "GPR98_000216" "g.89988412G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "-HpyCH4III;-TspRI;" "" "heterozygous" "Germline" "" "rs10040165" "0" "" "" "g.90692595G>A" "" "benign" "" "0000373280" "0" "11" "5" "89988412" "89988412" "subst" "0.347653" "02416" "GPR98_000216" "g.89988412G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "-HpyCH4III;-TspRI;" "" "heterozygous" "Germline" "" "rs10040165" "0" "" "" "g.90692595G>A" "" "benign" "" "0000373281" "0" "11" "5" "89988412" "89988412" "subst" "0.347653" "02416" "GPR98_000216" "g.89988412G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "-HpyCH4III;-TspRI;" "" "heterozygous" "Germline" "" "rs10040165" "0" "" "" "g.90692595G>A" "" "benign" "" "0000373282" "10" "11" "5" "89988504" "89988504" "subst" "0.35785" "02416" "GPR98_000217" "g.89988504A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1N2345S:} USMA-{MSV3dQ8WXG9p.Asn2345Ser:}" "+BsrI;+TspRI;" "" "homozygous" "Germline" "" "rs2366926" "0" "" "" "g.90692687A>G" "" "benign" "" "0000373283" "20" "11" "5" "89988504" "89988504" "subst" "0.35785" "02416" "GPR98_000217" "g.89988504A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1N2345S:} USMA-{MSV3dQ8WXG9p.Asn2345Ser:}" "+BsrI;+TspRI;" "" "homozygous" "Germline" "" "rs2366926" "0" "" "" "g.90692687A>G" "" "benign" "" "0000373284" "10" "11" "5" "89988504" "89988504" "subst" "0.35785" "02416" "GPR98_000217" "g.89988504A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1N2345S:} USMA-{MSV3dQ8WXG9p.Asn2345Ser:}" "+BsrI;+TspRI;" "" "homozygous" "Germline" "" "rs2366926" "0" "" "" "g.90692687A>G" "" "benign" "" "0000373285" "20" "11" "5" "89988504" "89988504" "subst" "0.35785" "02416" "GPR98_000217" "g.89988504A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1N2345S:} USMA-{MSV3dQ8WXG9p.Asn2345Ser:}" "+BsrI;+TspRI;" "" "homozygous" "Germline" "" "rs2366926" "0" "" "" "g.90692687A>G" "" "benign" "" "0000373286" "0" "11" "5" "89988504" "89988504" "subst" "0.35785" "02416" "GPR98_000217" "g.89988504A>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAVLGR1N2345S:} USMA-{MSV3dQ8WXG9p.Asn2345Ser:}" "+BsrI;+TspRI;" "" "heterozygous" "Germline" "" "rs2366926" "0" "" "" "g.90692687A>G" "" "benign" "" "0000373287" "0" "11" "5" "89988504" "89988504" "subst" "0.35785" "02416" "GPR98_000217" "g.89988504A>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAVLGR1N2345S:} USMA-{MSV3dQ8WXG9p.Asn2345Ser:}" "+BsrI;+TspRI;" "" "heterozygous" "Germline" "" "rs2366926" "0" "" "" "g.90692687A>G" "" "benign" "" "0000373288" "0" "11" "5" "89988504" "89988504" "subst" "0.35785" "02416" "GPR98_000217" "g.89988504A>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAVLGR1N2345S:} USMA-{MSV3dQ8WXG9p.Asn2345Ser:}" "+BsrI;+TspRI;" "" "heterozygous" "Germline" "" "rs2366926" "0" "" "" "g.90692687A>G" "" "benign" "" "0000373289" "0" "11" "5" "89988504" "89988504" "subst" "0.35785" "02416" "GPR98_000217" "g.89988504A>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAVLGR1N2345S:} USMA-{MSV3dQ8WXG9p.Asn2345Ser:}" "+BsrI;+TspRI;" "" "heterozygous" "Germline" "" "rs2366926" "0" "" "" "g.90692687A>G" "" "benign" "" "0000373290" "11" "11" "5" "89988504" "89988504" "subst" "0.35785" "02416" "GPR98_000217" "g.89988504A>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAVLGR1N2345S:} USMA-{MSV3dQ8WXG9p.Asn2345Ser:}" "+BsrI;+TspRI;" "" "heterozygous" "Germline" "" "rs2366926" "0" "" "" "g.90692687A>G" "" "benign" "" "0000373291" "0" "11" "5" "89988504" "89988504" "subst" "0.35785" "02416" "GPR98_000217" "g.89988504A>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAVLGR1N2345S:} USMA-{MSV3dQ8WXG9p.Asn2345Ser:}" "+BsrI;+TspRI;" "" "heterozygous" "Germline" "" "rs2366926" "0" "" "" "g.90692687A>G" "" "benign" "" "0000373292" "0" "11" "5" "89988504" "89988504" "subst" "0.35785" "02416" "GPR98_000217" "g.89988504A>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAVLGR1N2345S:} USMA-{MSV3dQ8WXG9p.Asn2345Ser:}" "+BsrI;+TspRI;" "" "heterozygous" "Germline" "" "rs2366926" "0" "" "" "g.90692687A>G" "" "benign" "" "0000373293" "0" "11" "5" "89988504" "89988504" "subst" "0.35785" "02416" "GPR98_000217" "g.89988504A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1N2345S:} USMA-{MSV3dQ8WXG9p.Asn2345Ser:}" "+BsrI;+TspRI;" "" "heterozygous; non causative" "Germline" "" "rs2366926" "0" "" "" "g.90692687A>G" "" "benign" "" "0000373294" "10" "11" "5" "89988504" "89988504" "subst" "0.35785" "02416" "GPR98_000217" "g.89988504A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1N2345S:} USMA-{MSV3dQ8WXG9p.Asn2345Ser:}" "+BsrI;+TspRI;" "" "homozygous; non causative" "Germline" "" "rs2366926" "0" "" "" "g.90692687A>G" "" "benign" "" "0000373295" "20" "11" "5" "89988504" "89988504" "subst" "0.35785" "02416" "GPR98_000217" "g.89988504A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1N2345S:} USMA-{MSV3dQ8WXG9p.Asn2345Ser:}" "+BsrI;+TspRI;" "" "homozygous; non causative" "Germline" "" "rs2366926" "0" "" "" "g.90692687A>G" "" "benign" "" "0000373296" "0" "11" "5" "89988504" "89988504" "subst" "0.35785" "02416" "GPR98_000217" "g.89988504A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAVLGR1N2345S:} USMA-{MSV3dQ8WXG9p.Asn2345Ser:}" "+BsrI;+TspRI;" "" "heterozygous; non causative" "Germline" "" "rs2366926" "0" "" "" "g.90692687A>G" "" "benign" "" "0000373297" "0" "11" "5" "89989779" "89989779" "subst" "0.359399" "02416" "GPR98_000218" "g.89989779G>A" "" "{PMID:Besnard 2012:22147658}" "+MboII;-MnlI;" "" "heterozygous" "Germline" "" "rs16876822" "0" "" "" "g.90693962G>A" "" "benign" "" "0000373298" "0" "11" "5" "89989779" "89989779" "subst" "0.359399" "02416" "GPR98_000218" "g.89989779G>A" "" "{PMID:Besnard 2012:22147658}" "+MboII;-MnlI;" "" "heterozygous" "Germline" "" "rs16876822" "0" "" "" "g.90693962G>A" "" "benign" "" "0000373299" "0" "11" "5" "89989779" "89989779" "subst" "0.359399" "02416" "GPR98_000218" "g.89989779G>A" "" "{PMID:Besnard 2012:22147658}" "+MboII;-MnlI;" "" "heterozygous" "Germline" "" "rs16876822" "0" "" "" "g.90693962G>A" "" "benign" "" "0000373300" "0" "11" "5" "89989779" "89989779" "subst" "0.359399" "02416" "GPR98_000218" "g.89989779G>A" "" "{PMID:Besnard 2012:22147658}" "+MboII;-MnlI;" "" "heterozygous" "Germline" "" "rs16876822" "0" "" "" "g.90693962G>A" "" "benign" "" "0000373301" "10" "11" "5" "89989779" "89989779" "subst" "0.359399" "02416" "GPR98_000218" "g.89989779G>A" "" "{PMID:Besnard 2012:22147658}" "+MboII;-MnlI;" "" "homozygous" "Germline" "" "rs16876822" "0" "" "" "g.90693962G>A" "" "benign" "" "0000373302" "20" "11" "5" "89989779" "89989779" "subst" "0.359399" "02416" "GPR98_000218" "g.89989779G>A" "" "{PMID:Besnard 2012:22147658}" "+MboII;-MnlI;" "" "homozygous" "Germline" "" "rs16876822" "0" "" "" "g.90693962G>A" "" "benign" "" "0000373303" "0" "11" "5" "89989779" "89989779" "subst" "0.359399" "02416" "GPR98_000218" "g.89989779G>A" "" "{PMID:Besnard 2012:22147658}" "+MboII;-MnlI;" "" "heterozygous" "Germline" "" "rs16876822" "0" "" "" "g.90693962G>A" "" "benign" "" "0000373304" "10" "11" "5" "89989779" "89989779" "subst" "0.359399" "02416" "GPR98_000218" "g.89989779G>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "+MboII;-MnlI;" "" "homozygous" "Germline" "" "rs16876822" "0" "" "" "g.90693962G>A" "" "benign" "" "0000373305" "20" "11" "5" "89989779" "89989779" "subst" "0.359399" "02416" "GPR98_000218" "g.89989779G>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "+MboII;-MnlI;" "" "homozygous" "Germline" "" "rs16876822" "0" "" "" "g.90693962G>A" "" "benign" "" "0000373306" "0" "11" "5" "89989779" "89989779" "subst" "0.359399" "02416" "GPR98_000218" "g.89989779G>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "+MboII;-MnlI;" "" "heterozygous" "Germline" "" "rs16876822" "0" "" "" "g.90693962G>A" "" "benign" "" "0000373307" "0" "11" "5" "89993045" "89993045" "subst" "0" "02416" "GPR98_000219" "g.89993045T>C" "" "{PMID:Besnard 2012:22147658}" "+AluI;+CviKI_1;" "" "heterozygous" "Germline" "" "rs10942604" "0" "" "" "g.90697228T>C" "" "benign" "" "0000373308" "0" "11" "5" "89993045" "89993045" "subst" "0" "02416" "GPR98_000219" "g.89993045T>C" "" "{PMID:Besnard 2012:22147658}" "+AluI;+CviKI_1;" "" "heterozygous" "Germline" "" "rs10942604" "0" "" "" "g.90697228T>C" "" "benign" "" "0000373309" "0" "11" "5" "89993045" "89993045" "subst" "0" "02416" "GPR98_000219" "g.89993045T>C" "" "{PMID:Besnard 2012:22147658}" "+AluI;+CviKI_1;" "" "heterozygous" "Germline" "" "rs10942604" "0" "" "" "g.90697228T>C" "" "benign" "" "0000373310" "0" "11" "5" "89993045" "89993045" "subst" "0" "02416" "GPR98_000219" "g.89993045T>C" "" "{PMID:Besnard 2012:22147658}" "+AluI;+CviKI_1;" "" "heterozygous" "Germline" "" "rs10942604" "0" "" "" "g.90697228T>C" "" "benign" "" "0000373311" "10" "11" "5" "89993045" "89993045" "subst" "0" "02416" "GPR98_000219" "g.89993045T>C" "" "{PMID:Besnard 2012:22147658}" "+AluI;+CviKI_1;" "" "homozygous" "Germline" "" "rs10942604" "0" "" "" "g.90697228T>C" "" "benign" "" "0000373312" "20" "11" "5" "89993045" "89993045" "subst" "0" "02416" "GPR98_000219" "g.89993045T>C" "" "{PMID:Besnard 2012:22147658}" "+AluI;+CviKI_1;" "" "homozygous" "Germline" "" "rs10942604" "0" "" "" "g.90697228T>C" "" "benign" "" "0000373313" "0" "11" "5" "89993045" "89993045" "subst" "0" "02416" "GPR98_000219" "g.89993045T>C" "" "{PMID:Besnard 2012:22147658}" "+AluI;+CviKI_1;" "" "heterozygous" "Germline" "" "rs10942604" "0" "" "" "g.90697228T>C" "" "benign" "" "0000373314" "10" "11" "5" "89993045" "89993045" "subst" "0" "02416" "GPR98_000219" "g.89993045T>C" "" "{PMID:Garcia-Garcia 2013:23441107}" "+AluI;+CviKI_1;" "" "homozygous" "Germline" "" "rs10942604" "0" "" "" "g.90697228T>C" "" "benign" "" "0000373315" "20" "11" "5" "89993045" "89993045" "subst" "0" "02416" "GPR98_000219" "g.89993045T>C" "" "{PMID:Garcia-Garcia 2013:23441107}" "+AluI;+CviKI_1;" "" "homozygous" "Germline" "" "rs10942604" "0" "" "" "g.90697228T>C" "" "benign" "" "0000373316" "0" "11" "5" "89993045" "89993045" "subst" "0" "02416" "GPR98_000219" "g.89993045T>C" "" "{PMID:Garcia-Garcia 2013:23441107}" "+AluI;+CviKI_1;" "" "heterozygous" "Germline" "" "rs10942604" "0" "" "" "g.90697228T>C" "" "benign" "" "0000373317" "0" "11" "5" "90020923" "90020923" "subst" "0.345741" "02416" "GPR98_000220" "g.90020923T>G" "" "{PMID:Besnard 2012:22147658}" "+Hpy188I" "" "heterozygous" "Germline" "" "rs16869042" "0" "" "" "g.90725106T>G" "" "benign" "" "0000373318" "0" "11" "5" "90020923" "90020923" "subst" "0.345741" "02416" "GPR98_000220" "g.90020923T>G" "" "{PMID:Besnard 2012:22147658}" "+Hpy188I" "" "heterozygous" "Germline" "" "rs16869042" "0" "" "" "g.90725106T>G" "" "benign" "" "0000373319" "0" "11" "5" "90020923" "90020923" "subst" "0.345741" "02416" "GPR98_000220" "g.90020923T>G" "" "{PMID:Besnard 2012:22147658}" "+Hpy188I" "" "heterozygous" "Germline" "" "rs16869042" "0" "" "" "g.90725106T>G" "" "benign" "" "0000373320" "0" "11" "5" "90020923" "90020923" "subst" "0.345741" "02416" "GPR98_000220" "g.90020923T>G" "" "{PMID:Besnard 2012:22147658}" "+Hpy188I" "" "heterozygous" "Germline" "" "rs16869042" "0" "" "" "g.90725106T>G" "" "benign" "" "0000373321" "10" "11" "5" "90020923" "90020923" "subst" "0.345741" "02416" "GPR98_000220" "g.90020923T>G" "" "{PMID:Besnard 2012:22147658}" "+Hpy188I" "" "homozygous" "Germline" "" "rs16869042" "0" "" "" "g.90725106T>G" "" "benign" "" "0000373322" "20" "11" "5" "90020923" "90020923" "subst" "0.345741" "02416" "GPR98_000220" "g.90020923T>G" "" "{PMID:Besnard 2012:22147658}" "+Hpy188I" "" "homozygous" "Germline" "" "rs16869042" "0" "" "" "g.90725106T>G" "" "benign" "" "0000373323" "0" "11" "5" "90020923" "90020923" "subst" "0.345741" "02416" "GPR98_000220" "g.90020923T>G" "" "{PMID:Besnard 2012:22147658}" "+Hpy188I" "" "heterozygous" "Germline" "" "rs16869042" "0" "" "" "g.90725106T>G" "" "benign" "" "0000373324" "10" "11" "5" "90020923" "90020923" "subst" "0.345741" "02416" "GPR98_000220" "g.90020923T>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "+Hpy188I" "" "homozygous" "Germline" "" "rs16869042" "0" "" "" "g.90725106T>G" "" "benign" "" "0000373325" "20" "11" "5" "90020923" "90020923" "subst" "0.345741" "02416" "GPR98_000220" "g.90020923T>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "+Hpy188I" "" "homozygous" "Germline" "" "rs16869042" "0" "" "" "g.90725106T>G" "" "benign" "" "0000373326" "0" "11" "5" "90020923" "90020923" "subst" "0.345741" "02416" "GPR98_000220" "g.90020923T>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "+Hpy188I" "" "heterozygous" "Germline" "" "rs16869042" "0" "" "" "g.90725106T>G" "" "benign" "" "0000373327" "0" "99" "5" "90144454" "90159674" "dup" "0" "02416" "GPR98_000221" "g.90144454_90159674dup" "" "{PMID:Besnard 2012:22147658}" "" "" "heterozygous; Pathogenic\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000373328" "10" "99" "5" "90144454" "90159674" "dup" "0" "02416" "GPR98_000221" "g.90144454_90159674dup" "" "{PMID:Aparisi 2014:25404053}" "" "" "homozygous; Pathogenic\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000373329" "20" "99" "5" "90144454" "90159674" "dup" "0" "02416" "GPR98_000221" "g.90144454_90159674dup" "" "{PMID:Aparisi 2014:25404053}" "" "" "homozygous; Pathogenic\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000373330" "0" "15" "5" "90149238" "90149238" "subst" "4.87972E-5" "02416" "GPR98_000222" "g.90149238A>G" "" "{PMID:Besnard 2012:22147658}; USMA-{USMAVLGR1Q5781R:} USMA-{MSV3dQ8WXG9p.Gln5781Arg:}" "+MspI;+HpaII;+NciI;-PspGI;-BstNI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90853421A>G" "" "likely benign" "ACMG" "0000373331" "10" "11" "5" "90059436" "90059436" "subst" "0" "02416" "GPR98_000223" "g.90059436T>A" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.90763619T>A" "" "benign" "" "0000373332" "20" "11" "5" "90059436" "90059436" "subst" "0" "02416" "GPR98_000223" "g.90059436T>A" "" "{PMID:Besnard 2012:22147658}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.90763619T>A" "" "benign" "" "0000373333" "0" "11" "5" "90059436" "90059436" "subst" "0" "02416" "GPR98_000223" "g.90059436T>A" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90763619T>A" "" "benign" "" "0000373334" "0" "11" "5" "90059436" "90059436" "subst" "0" "02416" "GPR98_000223" "g.90059436T>A" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90763619T>A" "" "benign" "" "0000373335" "10" "11" "5" "90059436" "90059436" "subst" "0" "02416" "GPR98_000223" "g.90059436T>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.90763619T>A" "" "benign" "" "0000373336" "20" "11" "5" "90059436" "90059436" "subst" "0" "02416" "GPR98_000223" "g.90059436T>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.90763619T>A" "" "benign" "" "0000373337" "0" "11" "5" "90059436" "90059436" "subst" "0" "02416" "GPR98_000223" "g.90059436T>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90763619T>A" "" "benign" "" "0000373338" "0" "99" "5" "90079029" "90079029" "dup" "0" "02416" "GPR98_000224" "g.90079029dup" "" "{PMID:Besnard 2012:22147658}" "+MwoI;-BanII;-AluI;-SacI;-BsiHKAI;-Bsp1286I;" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90783212dup" "" "pathogenic" "" "0000373339" "1" "99" "5" "90079029" "90079029" "dup" "0" "02428" "GPR98_000224" "g.90079029dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.90783212dup" "" "pathogenic" "" "0000373340" "0" "99" "5" "90136723" "90136723" "del" "4.4916E-6" "02416" "GPR98_000225" "g.90136723del" "" "{PMID:Besnard 2012:22147658}" "+MnlI;+BsaXI;+NlaIV;+CviKI_1;-Bsp1286I;-BsiHKAI;" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90840906del" "" "pathogenic" "" "0000373341" "2" "99" "5" "90136723" "90136723" "del" "4.4916E-6" "02428" "GPR98_000225" "g.90136723del" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.90840906del" "" "pathogenic" "" "0000373342" "11" "99" "5" "89979409" "89979409" "subst" "0" "02416" "GPR98_000226" "g.89979409A>T" "" "{PMID:Besnard 2012:22147658}" "-PsiI" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90683592A>T" "" "pathogenic" "" "0000373343" "0" "11" "5" "90041225" "90041225" "subst" "0" "02416" "GPR98_000227" "g.90041225G>A" "" "{PMID:Besnard 2012:22147658}" "-FatI;-NlaIII;-CviAII;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90745408G>A" "" "benign" "" "0000373344" "0" "11" "5" "90041225" "90041225" "subst" "0" "02416" "GPR98_000227" "g.90041225G>A" "" "{PMID:Besnard 2012:22147658}" "-FatI;-NlaIII;-CviAII;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90745408G>A" "" "benign" "" "0000373345" "0" "11" "5" "90041225" "90041225" "subst" "0" "02416" "GPR98_000227" "g.90041225G>A" "" "{PMID:Besnard 2012:22147658}" "-FatI;-NlaIII;-CviAII;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90745408G>A" "" "benign" "" "0000373346" "10" "11" "5" "90041225" "90041225" "subst" "0" "02416" "GPR98_000227" "g.90041225G>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "-FatI;-NlaIII;-CviAII;" "" "homozygous" "Germline" "" "" "0" "" "" "g.90745408G>A" "" "benign" "" "0000373347" "20" "11" "5" "90041225" "90041225" "subst" "0" "02416" "GPR98_000227" "g.90041225G>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "-FatI;-NlaIII;-CviAII;" "" "homozygous" "Germline" "" "" "0" "" "" "g.90745408G>A" "" "benign" "" "0000373348" "0" "11" "5" "90041161" "90041161" "subst" "0" "02416" "GPR98_000228" "g.90041161G>A" "" "{PMID:Besnard 2012:22147658}" "-HphI" "" "heterozygous" "Germline" "" "rs2438356" "0" "" "" "g.90745344G>A" "" "benign" "" "0000373349" "0" "11" "5" "90041161" "90041161" "subst" "0" "02416" "GPR98_000228" "g.90041161G>A" "" "{PMID:Besnard 2012:22147658}" "-HphI" "" "heterozygous" "Germline" "" "rs2438356" "0" "" "" "g.90745344G>A" "" "benign" "" "0000373350" "0" "11" "5" "90041161" "90041161" "subst" "0" "02416" "GPR98_000228" "g.90041161G>A" "" "{PMID:Besnard 2012:22147658}" "-HphI" "" "heterozygous" "Germline" "" "rs2438356" "0" "" "" "g.90745344G>A" "" "benign" "" "0000373351" "10" "11" "5" "90041161" "90041161" "subst" "0" "02416" "GPR98_000228" "g.90041161G>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "-HphI" "" "homozygous" "Germline" "" "rs2438356" "0" "" "" "g.90745344G>A" "" "benign" "" "0000373352" "20" "11" "5" "90041161" "90041161" "subst" "0" "02416" "GPR98_000228" "g.90041161G>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "-HphI" "" "homozygous" "Germline" "" "rs2438356" "0" "" "" "g.90745344G>A" "" "benign" "" "0000373353" "0" "11" "5" "90041161" "90041161" "subst" "0" "02416" "GPR98_000228" "g.90041161G>A" "" "{PMID:Garcia-Garcia 2013:23441107}" "-HphI" "" "heterozygous" "Germline" "" "rs2438356" "0" "" "" "g.90745344G>A" "" "benign" "" "0000373354" "21" "95" "5" "90078938" "90078938" "subst" "0" "02416" "GPR98_000229" "g.90078938C>G" "" "{PMID:Besnard 2012:22147658}" "-HpyCH4III;-TspRI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90783121C>G" "" "likely pathogenic" "ACMG" "0000373355" "0" "35" "5" "90078821" "90078821" "subst" "0" "02416" "GPR98_000230" "g.90078821A>G" "" "{PMID:Besnard 2012:22147658}" "+HpyCH4III" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90783004A>G" "" "likely benign" "ACMG" "0000373356" "0" "15" "5" "90079811" "90079811" "subst" "0.0156382" "02416" "GPR98_000231" "g.90079811C>T" "" "{PMID:Besnard 2012:22147658}" "none" "" "heterozygous" "Germline" "" "rs41311745" "0" "" "" "g.90783994C>T" "" "likely benign" "ACMG" "0000373357" "0" "15" "5" "90119124" "90119124" "dup" "0" "02416" "GPR98_000232" "g.90119124dup" "" "{PMID:Besnard 2012:22147658}" "-BtsCI;-FokI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90823307dup" "" "likely benign" "ACMG" "0000373358" "0" "11" "5" "89943655" "89943655" "subst" "0" "02416" "GPR98_000233" "g.89943655A>G" "" "{PMID:Besnard 2012:22147658}" "+Hpy188I" "" "heterozygous" "Germline" "" "rs16868917" "0" "" "" "g.90647838A>G" "" "benign" "" "0000373359" "0" "11" "5" "90041510" "90041510" "subst" "0.0311764" "02416" "GPR98_000234" "g.90041510A>G" "" "{PMID:Besnard 2012:22147658}" "+AluI;+CviKI_1;" "" "heterozygous" "Germline" "" "rs17624033" "0" "" "" "g.90745693A>G" "" "benign" "" "0000373360" "0" "11" "5" "90041510" "90041510" "subst" "0.0311764" "02416" "GPR98_000234" "g.90041510A>G" "" "{PMID:Besnard 2012:22147658}" "+AluI;+CviKI_1;" "" "heterozygous" "Germline" "" "rs17624033" "0" "" "" "g.90745693A>G" "" "benign" "" "0000373361" "0" "11" "5" "90041510" "90041510" "subst" "0.0311764" "02416" "GPR98_000234" "g.90041510A>G" "" "{PMID:Garcia-Garcia 2013:23441107}" "+AluI;+CviKI_1;" "" "heterozygous" "Germline" "" "rs17624033" "0" "" "" "g.90745693A>G" "" "benign" "" "0000373362" "21" "99" "5" "90144496" "90144496" "subst" "0" "02416" "GPR98_000235" "g.90144496C>T" "" "{PMID:Besnard 2012:22147658}" "+PvuII;+AluI;+MspA1I;" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90848679C>T" "" "pathogenic" "" "0000373363" "10" "99" "5" "89941870" "89941874" "del" "0" "02416" "GPR98_000236" "g.89941870_89941874del" "" "{PMID:Besnard 2012:22147658}" "-Hpy188I;-MnlI;-DdeI;-BspCNI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90646053_90646057del" "" "pathogenic" "" "0000373364" "20" "99" "5" "89941870" "89941874" "del" "0" "02416" "GPR98_000236" "g.89941870_89941874del" "" "{PMID:Besnard 2012:22147658}" "-Hpy188I;-MnlI;-DdeI;-BspCNI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90646053_90646057del" "" "pathogenic" "" "0000373365" "11" "99" "5" "89988471" "89988471" "subst" "0" "02416" "GPR98_000237" "g.89988471T>G" "" "{PMID:Besnard 2012:22147658}" "+HphI" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90692654T>G" "" "pathogenic" "" "0000373366" "2" "15" "5" "90106517" "90106517" "subst" "0.000121896" "02416" "GPR98_000238" "g.90106517A>G" "" "{PMID:Neveling 2012:22334370}; USMA-{USMAUSH2AD5147G:} USMA-{MSV3dQ8WXG9p.Asp5147Gly:}" "-HincII;-Hpy166II;" "" "heterozygous; pathogenicity unclear" "Germline" "" "" "0" "" "" "g.90810700A>G" "" "likely benign" "ACMG" "0000373367" "1" "15" "5" "90106517" "90106517" "subst" "0.000121896" "02416" "GPR98_000238" "g.90106517A>G" "" "{PMID:Neveling 2012:22334370}; USMA-{USMAUSH2AD5147G:} USMA-{MSV3dQ8WXG9p.Asp5147Gly:}" "-HincII;-Hpy166II;" "" "heterozygous; pathogenicity unclear" "Germline" "" "" "0" "" "" "g.90810700A>G" "" "likely benign" "ACMG" "0000373368" "1" "35" "5" "89990155" "89990155" "subst" "0.00416253" "02416" "GPR98_000239" "g.89990155C>T" "" "{PMID:Neveling 2012:22334370}; USMA-{USMAUSH2AP2528S:} USMA-{MSV3dQ8WXG9p.Pro2528Ser:}" "+Hpy188I;-Hpy188III;-MboII;" "" "heterozygous; pathogenicity unclear" "Germline" "" "" "0" "" "" "g.90694338C>T" "" "likely benign" "ACMG" "0000373369" "2" "15" "5" "90016024" "90016024" "subst" "0.00144135" "02416" "GPR98_000240" "g.90016024T>A" "" "{PMID:Neveling 2012:22334370}; USMA-{USMAUSH2AS3203T:} USMA-{MSV3dQ8WXG9p.Ser3203Thr:}" "+BtsI;+TspRI;" "" "heterozygous; pathogenicity unclear" "Germline" "" "rs116480183" "0" "" "" "g.90720207T>A" "" "likely benign" "ACMG" "0000373370" "1" "15" "5" "90016024" "90016024" "subst" "0.00144135" "02416" "GPR98_000240" "g.90016024T>A" "" "{PMID:Neveling 2012:22334370}; USMA-{USMAUSH2AS3203T:} USMA-{MSV3dQ8WXG9p.Ser3203Thr:}" "+BtsI;+TspRI;" "" "heterozygous; pathogenicity unclear" "Germline" "" "rs116480183" "0" "" "" "g.90720207T>A" "" "likely benign" "ACMG" "0000373371" "1" "75" "5" "89943443" "89943443" "subst" "0.00208562" "02416" "GPR98_000241" "g.89943443G>T" "" "{PMID:Neveling 2012:22334370}; USMA-{USMAVLGR1D1051Y:} USMA-{MSV3dQ8WXG9p.Asp1051Tyr:}" "none" "" "heterozygous; pathogenicity unclear" "Germline" "" "rs145556097" "0" "" "" "g.90647626G>T" "" "VUS" "ACMG" "0000373372" "1" "75" "5" "89943443" "89943443" "subst" "0.00208562" "02416" "GPR98_000241" "g.89943443G>T" "" "{PMID:Neveling 2012:22334370}; USMA-{USMAVLGR1D1051Y:} USMA-{MSV3dQ8WXG9p.Asp1051Tyr:}" "none" "" "heterozygous; pathogenicity unclear" "Germline" "" "rs145556097" "0" "" "" "g.90647626G>T" "" "VUS" "ACMG" "0000373373" "1" "15" "5" "89943483" "89943483" "subst" "0.00209338" "02416" "GPR98_000242" "g.89943483A>C" "" "{PMID:Neveling 2012:22334370}; USMA-{USMAVLGR1E1064A:} USMA-{MSV3dQ8WXG9p.Glu1064Ala:}" "+AciI;-MnlI;" "" "heterozygous; pathogenicity unclear" "Germline" "" "rs190922596" "0" "" "" "g.90647666A>C" "" "likely benign" "ACMG" "0000373374" "1" "15" "5" "89943483" "89943483" "subst" "0.00209338" "02416" "GPR98_000242" "g.89943483A>C" "" "{PMID:Neveling 2012:22334370}; USMA-{USMAVLGR1E1064A:} USMA-{MSV3dQ8WXG9p.Glu1064Ala:}" "+AciI;-MnlI;" "" "heterozygous; pathogenicity unclear" "Germline" "" "rs190922596" "0" "" "" "g.90647666A>C" "" "likely benign" "ACMG" "0000373375" "1" "35" "5" "90059270" "90059270" "subst" "0.00284507" "02416" "GPR98_000243" "g.90059270C>A" "" "{PMID:Neveling 2012:22334370}; USMA-{USMAVLGR1T4090N:} USMA-{MSV3dQ8WXG9p.Thr4090Asn:}" "-PpuMI;-Sau96I;-BsmFI;-AvaII;-EcoO109I;" "" "heterozygous; pathogenicity unclear" "Germline" "" "" "0" "" "" "g.90763453C>A" "" "likely benign" "ACMG" "0000373376" "0" "35" "5" "90059270" "90059270" "subst" "0.00284507" "02416" "GPR98_000243" "g.90059270C>A" "" "{PMID:Neveling 2012:22334370}; USMA-{USMAVLGR1T4090N:} USMA-{MSV3dQ8WXG9p.Thr4090Asn:}" "-PpuMI;-Sau96I;-BsmFI;-AvaII;-EcoO109I;" "" "heterozygous; pathogenicity unclear" "Germline" "" "" "0" "" "" "g.90763453C>A" "" "likely benign" "ACMG" "0000373377" "1" "15" "5" "90001237" "90001237" "subst" "0.0107832" "02416" "GPR98_000244" "g.90001237G>A" "" "{PMID:Neveling 2012:22334370}; USMA-{USMAVLGR1A2803T:} USMA-{MSV3dQ8WXG9p.Ala2803Thr:}" "+HphI;-MwoI;" "" "heterozygous; pathogenicity unclear" "Germline" "" "rs111033530" "0" "" "" "g.90705420G>A" "" "likely benign" "ACMG" "0000373378" "0" "15" "5" "90001237" "90001237" "subst" "0.0107832" "02416" "GPR98_000244" "g.90001237G>A" "" "{PMID:Neveling 2012:22334370}; USMA-{USMAVLGR1A2803T:} USMA-{MSV3dQ8WXG9p.Ala2803Thr:}" "+HphI;-MwoI;" "" "heterozygous; pathogenicity unclear" "Germline" "" "rs111033530" "0" "" "" "g.90705420G>A" "" "likely benign" "ACMG" "0000373379" "1" "15" "5" "89968474" "89968474" "subst" "0.000930546" "02416" "GPR98_000245" "g.89968474T>C" "" "{PMID:Neveling 2012:22334370}; USMA-{USMAVLGR1Y1622H:} USMA-{MSV3dQ8WXG9p.Tyr1622His:}" "+HphI;-Tsp509I ;" "" "heterozygous; pathogenicity unclear" "Germline" "" "rs111753827" "0" "" "" "g.90672657T>C" "" "likely benign" "ACMG" "0000373380" "2" "35" "5" "89979967" "89979967" "subst" "5.75227E-5" "02416" "GPR98_000246" "g.89979967G>A" "" "{PMID:Neveling 2012:22334370}; USMA-{USMAVLGR1E2077K:} USMA-{MSV3dQ8WXG9p.Glu2077Lys:}" "-TaqI" "" "heterozygous; pathogenicity unclear" "Germline" "" "" "0" "" "" "g.90684150G>A" "" "likely benign" "ACMG" "0000373381" "10" "99" "5" "90149264" "90149265" "delins" "0" "02416" "GPR98_000247" "g.90149264_90149265delinsTTAT" "" "{PMID:Garcia-Garcia 2013:23441107}" "-CviQI;-RsaI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90853447_90853448delinsTTAT" "" "pathogenic" "" "0000373382" "20" "99" "5" "90149264" "90149265" "delins" "0" "02416" "GPR98_000247" "g.90149264_90149265delinsTTAT" "" "{PMID:Garcia-Garcia 2013:23441107}" "-CviQI;-RsaI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90853447_90853448delinsTTAT" "" "pathogenic" "" "0000373383" "10" "11" "5" "89918621" "89918641" "delins" "0" "02416" "GPR98_000248" "g.89918621_89918641delinsCTCCAGG" "" "{PMID:Garcia-Garcia 2013:23441107}" "+ApeKI;+BanI;+BbvI;-BfuCI;-BspCNI;-BstAPI;" "" "homozygous; Neutral" "Germline" "" "" "0" "" "" "g.90622804_90622824delinsCTCCAGG" "" "benign" "" "0000373384" "20" "11" "5" "89918621" "89918641" "delins" "0" "02416" "GPR98_000248" "g.89918621_89918641delinsCTCCAGG" "" "{PMID:Garcia-Garcia 2013:23441107}" "+ApeKI;+BanI;+BbvI;-BfuCI;-BspCNI;-BstAPI;" "" "homozygous; Neutral" "Germline" "" "" "0" "" "" "g.90622804_90622824delinsCTCCAGG" "" "benign" "" "0000373385" "10" "11" "5" "89918621" "89918641" "delins" "0" "02416" "GPR98_000248" "g.89918621_89918641delinsCTCCAGG" "" "{PMID:Garcia-Garcia 2013:23441107}" "+ApeKI;+BanI;+BbvI;-BfuCI;-BspCNI;-BstAPI;" "" "homozygous; Neutral" "Germline" "" "" "0" "" "" "g.90622804_90622824delinsCTCCAGG" "" "benign" "" "0000373386" "20" "11" "5" "89918621" "89918641" "delins" "0" "02416" "GPR98_000248" "g.89918621_89918641delinsCTCCAGG" "" "{PMID:Garcia-Garcia 2013:23441107}" "+ApeKI;+BanI;+BbvI;-BfuCI;-BspCNI;-BstAPI;" "" "homozygous; Neutral" "Germline" "" "" "0" "" "" "g.90622804_90622824delinsCTCCAGG" "" "benign" "" "0000373387" "0" "15" "5" "89918621" "89918641" "delins" "0" "02416" "GPR98_000248" "g.89918621_89918641delinsCTCCAGG" "" "{PMID:Garcia-Garcia 2013:23441107}" "+ApeKI;+BanI;+BbvI;-BfuCI;-BspCNI;-BstAPI;" "" "heterozygous; Neutral" "Germline" "" "" "0" "" "" "g.90622804_90622824delinsCTCCAGG" "" "benign" "" "0000373388" "10" "15" "5" "89969880" "89969880" "subst" "0.00459038" "02416" "GPR98_000249" "g.89969880A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1I1647V:}USMA-{MSV3dQ8WXG9p.Ile1647Val:}" "none" "" "homozygous; UV1" "Germline" "" "rs72782753" "0" "" "" "g.90674063A>G" "" "likely benign" "ACMG" "0000373389" "20" "15" "5" "89969880" "89969880" "subst" "0.00459038" "02416" "GPR98_000249" "g.89969880A>G" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1I1647V:}USMA-{MSV3dQ8WXG9p.Ile1647Val:}" "none" "" "homozygous; UV1" "Germline" "" "rs72782753" "0" "" "" "g.90674063A>G" "" "likely benign" "ACMG" "0000373390" "10" "99" "5" "90368372" "90368372" "del" "4.06375E-6" "02416" "GPR98_000250" "g.90368372del" "" "{PMID:Garcia-Garcia 2013:23441107}" "+BmrI;+BsrI;-HpyCH4III;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.91072555del" "" "pathogenic" "" "0000373391" "20" "99" "5" "90368372" "90368372" "del" "4.06375E-6" "02416" "GPR98_000250" "g.90368372del" "" "{PMID:Garcia-Garcia 2013:23441107}" "+BmrI;+BsrI;-HpyCH4III;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.91072555del" "" "pathogenic" "" "0000373392" "10" "11" "5" "89933838" "89933838" "del" "0" "02416" "GPR98_000251" "g.89933838del" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous; Neutral" "Germline" "" "" "0" "" "" "g.90638021del" "" "benign" "" "0000373393" "20" "11" "5" "89933838" "89933838" "del" "0" "02416" "GPR98_000251" "g.89933838del" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous; Neutral" "Germline" "" "" "0" "" "" "g.90638021del" "" "benign" "" "0000373394" "0" "11" "5" "89933838" "89933838" "del" "0" "02416" "GPR98_000251" "g.89933838del" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous; Neutral" "Germline" "" "" "0" "" "" "g.90638021del" "" "benign" "" "0000373395" "10" "99" "5" "89986839" "89986846" "dup" "0" "02416" "GPR98_000252" "g.89986839_89986846dup" "" "{PMID:Garcia-Garcia 2013:23441107}" "+Hpy188I;+MmeI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90691022_90691029dup" "" "pathogenic" "" "0000373396" "20" "99" "5" "89986839" "89986846" "dup" "0" "02416" "GPR98_000252" "g.89986839_89986846dup" "" "{PMID:Garcia-Garcia 2013:23441107}" "+Hpy188I;+MmeI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90691022_90691029dup" "" "pathogenic" "" "0000373397" "10" "99" "5" "90073721" "90073721" "subst" "1.22883E-5" "02416" "GPR98_000253" "g.90073721G>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "+BciVI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90777904G>T" "" "pathogenic" "" "0000373398" "20" "99" "5" "90073721" "90073721" "subst" "1.22883E-5" "02416" "GPR98_000253" "g.90073721G>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "+BciVI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90777904G>T" "" "pathogenic" "" "0000373399" "0" "11" "5" "90073721" "90073721" "subst" "1.22883E-5" "02416" "GPR98_000253" "g.90073721G>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "+BciVI" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90777904G>T" "" "pathogenic" "" "0000373400" "10" "15" "5" "90459998" "90459998" "del" "0" "02416" "GPR98_000254" "g.90459998del" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous; UV1" "Germline" "" "" "0" "" "" "g.91164181del" "" "likely benign" "ACMG" "0000373401" "20" "15" "5" "90459998" "90459998" "del" "0" "02416" "GPR98_000254" "g.90459998del" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "homozygous; UV1" "Germline" "" "" "0" "" "" "g.91164181del" "" "likely benign" "ACMG" "0000373402" "0" "11" "5" "90002232" "90002232" "dup" "0" "02416" "GPR98_000255" "g.90002232dup" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "heterozygous; Neutral" "Germline" "" "rs60522638" "0" "" "" "g.90706415dup" "" "benign" "" "0000373403" "0" "11" "5" "90002232" "90002232" "dup" "0" "02416" "GPR98_000255" "g.90002232dup" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "heterozygous; Neutral" "Germline" "" "rs60522638" "0" "" "" "g.90706415dup" "" "benign" "" "0000373404" "0" "11" "5" "90002232" "90002232" "dup" "0" "02416" "GPR98_000255" "g.90002232dup" "" "{PMID:Rong 2014:24831256}" "none" "c.8730+9_+10insT" "heterozygous; non causative" "Germline" "" "rs60522638" "0" "" "" "g.90706415dup" "" "benign" "" "0000373405" "0" "11" "5" "90002232" "90002232" "dup" "0" "02416" "GPR98_000255" "g.90002232dup" "" "{PMID:Rong 2014:24831256}" "none" "c.8730+9_+10insT" "heterozygous; non causative" "Germline" "" "rs60522638" "0" "" "" "g.90706415dup" "" "benign" "" "0000373406" "0" "11" "5" "90002232" "90002232" "dup" "0" "02416" "GPR98_000255" "g.90002232dup" "" "{PMID:Rong 2014:24831256}" "none" "c.8730+9_+10insT" "heterozygous; non causative" "Germline" "" "rs60522638" "0" "" "" "g.90706415dup" "" "benign" "" "0000373407" "0" "11" "5" "90059091" "90059091" "dup" "0" "02416" "GPR98_000256" "g.90059091dup" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "heterozygous; Neutral" "Germline" "" "" "0" "" "" "g.90763274dup" "" "benign" "" "0000373408" "0" "11" "5" "90059091" "90059091" "dup" "0" "02416" "GPR98_000256" "g.90059091dup" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "heterozygous; Neutral" "Germline" "" "" "0" "" "" "g.90763274dup" "" "benign" "" "0000373409" "0" "99" "5" "90149282" "90149282" "subst" "0" "02416" "GPR98_000257" "g.90149282C>T" "" "{PMID:Garcia-Garcia 2013:23441107}" "+BfaI;-BsrI;" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90853465C>T" "" "pathogenic" "" "0000373410" "0" "11" "5" "90445830" "90445831" "ins" "0" "02416" "GPR98_000258" "g.90445830_90445831insCT" "" "{PMID:Garcia-Garcia 2013:23441107}" "" "18433-18_18433-17insTC" "heterozygous; Neutral" "Germline" "" "rs35858094" "0" "" "" "g.91150013_91150014insCT" "" "benign" "" "0000373411" "0" "11" "5" "90445830" "90445831" "ins" "0" "02416" "GPR98_000258" "g.90445830_90445831insCT" "" "{PMID:Garcia-Garcia 2013:23441107}" "" "18433-18_18433-17insTC" "heterozygous; Neutral" "Germline" "" "rs35858094" "0" "" "" "g.91150013_91150014insCT" "" "benign" "" "0000373412" "0" "11" "5" "90000210" "90000210" "subst" "0.0619964" "02416" "GPR98_000259" "g.90000210C>T" "" "{PMID:Garcia-Garcia 2013:23441107}; USMA-{USMAVLGR1S2764L:} USMA-{MSV3dQ8WXG9p.Ser2764Leu:}" "-DrdI" "" "heterozygous; Neutral" "Germline" "" "rs16869016" "0" "" "" "g.90704393C>T" "" "benign" "" "0000373413" "0" "99" "5" "90024625" "90024625" "del" "0" "02416" "GPR98_000260" "g.90024625del" "" "{PMID:Garcia-Garcia 2013:23441107}" "none" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.90728808del" "" "pathogenic" "" "0000373414" "0" "99" "5" "90025490" "90025490" "subst" "0" "02416" "GPR98_000261" "g.90025490G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+ BspCNI;+DdeI;+Hpy188I;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90729673G>A" "" "pathogenic" "" "0000373415" "1" "99" "5" "90025490" "90025490" "subst" "0" "02428" "GPR98_000261" "g.90025490G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.90729673G>A" "" "pathogenic" "" "0000373416" "1" "99" "5" "90025490" "90025490" "subst" "0" "02428" "GPR98_000261" "g.90025490G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.90729673G>A" "" "pathogenic" "" "0000373417" "10" "99" "5" "90079757" "90079758" "del" "0" "02416" "GPR98_000262" "g.90079757_90079758del" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.90783940_90783941del" "" "pathogenic" "" "0000373418" "20" "99" "5" "90079757" "90079758" "del" "0" "02416" "GPR98_000262" "g.90079757_90079758del" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.90783940_90783941del" "" "pathogenic" "" "0000373419" "0" "99" "5" "90079757" "90079758" "del" "0" "02416" "GPR98_000262" "g.90079757_90079758del" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90783940_90783941del" "" "pathogenic" "" "0000373420" "0" "35" "5" "89939793" "89939793" "subst" "1.25718E-5" "02416" "GPR98_000263" "g.89939793C>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "-SfcI" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90643976C>A" "" "likely benign" "ACMG" "0000373421" "0" "35" "5" "90012465" "90012465" "subst" "0.00397629" "02416" "GPR98_000264" "g.90012465A>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "heterozygous" "Germline" "" "rs200412477" "0" "" "" "g.90716648A>G" "" "likely benign" "ACMG" "0000373422" "10" "99" "5" "90007091" "90007092" "ins" "0" "02416" "GPR98_000265" "g.90007091_90007092insAAGTTCC" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+BslI;+PflMI;-BspCNI;-Hpy188I;" "" "homozygous" "Germline" "" "" "0" "" "" "g.90711274_90711275insAAGTTCC" "" "pathogenic" "" "0000373423" "20" "99" "5" "90007091" "90007092" "ins" "0" "02416" "GPR98_000265" "g.90007091_90007092insAAGTTCC" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+BslI;+PflMI;-BspCNI;-Hpy188I;" "" "homozygous" "Germline" "" "" "0" "" "" "g.90711274_90711275insAAGTTCC" "" "pathogenic" "" "0000373424" "0" "75" "5" "90041458" "90041458" "subst" "8.14041E-6" "02416" "GPR98_000266" "g.90041458T>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAVLGR1V3607A:} USMA-{MSV3dQ8WXG9p.Val3607Ala:}" "+ApeKI;+BbvI;+Fnu4HI;+TseI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90745641T>C" "" "VUS" "ACMG" "0000373425" "10" "99" "5" "89940652" "89940652" "subst" "8.33625E-6" "02416" "GPR98_000267" "g.89940652C>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+DraI;+MseI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.90644835C>A" "" "pathogenic" "" "0000373426" "20" "99" "5" "89940652" "89940652" "subst" "8.33625E-6" "02416" "GPR98_000267" "g.89940652C>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+DraI;+MseI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.90644835C>A" "" "pathogenic" "" "0000373427" "10" "99" "5" "89940652" "89940652" "subst" "8.33625E-6" "02428" "GPR98_000267" "g.89940652C>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90644835C>A" "" "pathogenic" "" "0000373428" "20" "99" "5" "89940652" "89940652" "subst" "8.33625E-6" "02428" "GPR98_000267" "g.89940652C>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90644835C>A" "" "pathogenic" "" "0000373429" "10" "35" "5" "90159570" "90159570" "subst" "1.21872E-5" "02416" "GPR98_000268" "g.90159570A>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+BfuAI;+BspMI;+HpyCH4V;+PstI;+SbfI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.90863753A>G" "" "likely benign" "ACMG" "0000373430" "20" "35" "5" "90159570" "90159570" "subst" "1.21872E-5" "02416" "GPR98_000268" "g.90159570A>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+BfuAI;+BspMI;+HpyCH4V;+PstI;+SbfI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.90863753A>G" "" "likely benign" "ACMG" "0000373431" "0" "99" "5" "89988599" "89988599" "subst" "1.88629E-5" "02416" "GPR98_000269" "g.89988599C>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+HphI" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90692782C>T" "" "pathogenic" "" "0000373432" "3" "99" "5" "90059227" "90059229" "del" "0" "02416" "GPR98_000270" "g.90059227_90059229delinsN[18]" "" "{PMID:Glöcke 2013:23591405}" "" "" "likely pathogenic" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000373434" "10" "75" "5" "89953743" "89953743" "subst" "0" "02416" "GPR98_000271" "g.89953743G>A" "" "{PMID:Glöcke 2013:23591405}; USMA-{USMAVLGR1G1467E:} USMA-{MSV3dQ8WXG9p.Gly1467Glu:}" "" "" "homozygous; likely pathogenic" "Germline" "" "" "0" "" "" "g.90657926G>A" "" "VUS" "ACMG" "0000373435" "20" "75" "5" "89953743" "89953743" "subst" "0" "02416" "GPR98_000271" "g.89953743G>A" "" "{PMID:Glöcke 2013:23591405}; USMA-{USMAVLGR1G1467E:} USMA-{MSV3dQ8WXG9p.Gly1467Glu:}" "" "" "homozygous; likely pathogenic" "Germline" "" "" "0" "" "" "g.90657926G>A" "" "VUS" "ACMG" "0000373436" "0" "99" "5" "89924520" "89924520" "del" "0" "02416" "GPR98_000272" "g.89924520del" "0/400 controls" "{PMID:Yang 2013:23767834}" "" "1379delA" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.90628703del" "" "pathogenic" "" "0000373437" "0" "99" "5" "89968497" "89968498" "ins" "0" "02416" "GPR98_000273" "g.89968497_89968498insATTTGCTAAT" "0/400 controls" "{PMID:Yang 2013:23767834}" "" "4887_4888insATTTGCTAAT" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.90672680_90672681insATTTGCTAAT" "" "pathogenic" "" "0000373438" "10" "35" "5" "89985746" "89985746" "subst" "0.00102145" "02416" "GPR98_000274" "g.89985746A>G" "0/400 controls" "{PMID:Yang 2013:23767834}; USMA-{USMAVLGR1I2187V:} USMA-{MSV3dQ8WXG9p.Ile2187Val:}" "" "" "heterozygous; Mutation" "Germline" "" "rs200512504" "0" "" "" "g.90689929A>G" "" "likely benign" "ACMG" "0000373439" "20" "35" "5" "89985746" "89985746" "subst" "0.00102145" "02416" "GPR98_000274" "g.89985746A>G" "0/400 controls" "{PMID:Yang 2013:23767834}; USMA-{USMAVLGR1I2187V:} USMA-{MSV3dQ8WXG9p.Ile2187Val:}" "" "" "heterozygous; Mutation" "Germline" "" "rs200512504" "0" "" "" "g.90689929A>G" "" "likely benign" "ACMG" "0000373440" "0" "75" "5" "89938704" "89938704" "subst" "2.05582E-5" "02416" "GPR98_000275" "g.89938704G>A" "0/400 controls" "{PMID:Yang 2013:23767834}; USMA-{USMAVLGR1R800Q:} USMA-{MSV3dQ8WXG9p.Arg800Gln:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.90642887G>A" "" "VUS" "ACMG" "0000373441" "0" "75" "5" "89949365" "89949365" "subst" "4.47274E-5" "00143" "GPR98_000276" "g.89949365C>T" "" "{PMID:Krawitz 2014:25333064}; USMA-{USMAVLGR1T1325M:} USMA-{MSV3dQ8WXG9p.Thr1325Met:}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.90653548C>T" "" "VUS" "ACMG" "0000373442" "0" "99" "5" "90149912" "90149912" "subst" "0" "00143" "GPR98_000277" "g.90149912C>T" "" "{PMID:Krawitz 2014:25333064}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.90854095C>T" "" "pathogenic" "" "0000373443" "0" "99" "5" "90368421" "90368421" "subst" "0" "00143" "GPR98_000278" "g.90368421G>T" "" "{PMID:Krawitz 2014:25333064}" "" "" "heterozygous; last nucleotide exon 86, may affect splicing.; mutation" "Germline" "" "" "0" "" "" "g.91072604G>T" "" "pathogenic" "" "0000373444" "10" "75" "5" "90087012" "90087012" "subst" "8.13782E-6" "02416" "GPR98_000279" "g.90087012G>A" "0/600 controls" "{PMID:Chen 2014:23462753}; USMA-{USMAVLGR1R4789Q:} USMA-{MSV3dQ8WXG9p.Arg4789Gln:}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90791195G>A" "" "VUS" "ACMG" "0000373445" "20" "75" "5" "90087012" "90087012" "subst" "8.13782E-6" "02416" "GPR98_000279" "g.90087012G>A" "0/600 controls" "{PMID:Chen 2014:23462753}; USMA-{USMAVLGR1R4789Q:} USMA-{MSV3dQ8WXG9p.Arg4789Gln:}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90791195G>A" "" "VUS" "ACMG" "0000373446" "10" "99" "5" "90107117" "90107117" "del" "0" "00764" "GPR98_000280" "g.90107117del" "" "{PMID:Reddy 2014:25211151}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90811300del" "" "pathogenic" "" "0000373447" "10" "99" "5" "90107117" "90107117" "del" "0" "00764" "GPR98_000280" "g.90107117del" "" "{PMID:Reddy 2014:25211151}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90811300del" "" "pathogenic" "" "0000373448" "10" "99" "5" "90107117" "90107117" "del" "0" "00764" "GPR98_000280" "g.90107117del" "" "{PMID:Reddy 2014:25211151}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90811300del" "" "pathogenic" "" "0000373449" "10" "99" "5" "90107117" "90107117" "del" "0" "00764" "GPR98_000280" "g.90107117del" "" "{PMID:Reddy 2014:25211151}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90811300del" "" "pathogenic" "" "0000373450" "10" "99" "5" "90107117" "90107117" "del" "0" "00764" "GPR98_000280" "g.90107117del" "" "{PMID:Reddy 2014:25211151}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90811300del" "" "pathogenic" "" "0000373451" "10" "99" "5" "90107117" "90107117" "del" "0" "00764" "GPR98_000280" "g.90107117del" "" "{PMID:Reddy 2014:25211151}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90811300del" "" "pathogenic" "" "0000373452" "10" "99" "5" "90107117" "90107117" "del" "0" "00764" "GPR98_000280" "g.90107117del" "" "{PMID:Reddy 2014:25211151}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90811300del" "" "pathogenic" "" "0000373453" "20" "99" "5" "90107117" "90107117" "del" "0" "00764" "GPR98_000280" "g.90107117del" "" "{PMID:Reddy 2014:25211151}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90811300del" "" "pathogenic" "" "0000373454" "20" "99" "5" "90107117" "90107117" "del" "0" "00764" "GPR98_000280" "g.90107117del" "" "{PMID:Reddy 2014:25211151}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90811300del" "" "pathogenic" "" "0000373455" "20" "99" "5" "90107117" "90107117" "del" "0" "00764" "GPR98_000280" "g.90107117del" "" "{PMID:Reddy 2014:25211151}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90811300del" "" "pathogenic" "" "0000373456" "20" "99" "5" "90107117" "90107117" "del" "0" "00764" "GPR98_000280" "g.90107117del" "" "{PMID:Reddy 2014:25211151}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90811300del" "" "pathogenic" "" "0000373457" "20" "99" "5" "90107117" "90107117" "del" "0" "00764" "GPR98_000280" "g.90107117del" "" "{PMID:Reddy 2014:25211151}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90811300del" "" "pathogenic" "" "0000373458" "20" "99" "5" "90107117" "90107117" "del" "0" "00764" "GPR98_000280" "g.90107117del" "" "{PMID:Reddy 2014:25211151}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90811300del" "" "pathogenic" "" "0000373459" "20" "99" "5" "90107117" "90107117" "del" "0" "00764" "GPR98_000280" "g.90107117del" "" "{PMID:Reddy 2014:25211151}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90811300del" "" "pathogenic" "" "0000373460" "10" "99" "5" "90152335" "90166377" "delins" "0" "00764" "GPR98_000281" "g.90152335_90166377delinsTAGACAGGGTTTCACCA" "" "{PMID:Reddy 2014:25211151}" "" "g.302719_316761delins17" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90856518_90870560delinsTAGACAGGGTTTCACCA" "" "pathogenic" "" "0000373461" "10" "99" "5" "90152335" "90166377" "delins" "0" "00764" "GPR98_000281" "g.90152335_90166377delinsTAGACAGGGTTTCACCA" "" "{PMID:Reddy 2014:25211151}" "" "g.302719_316761delins17" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90856518_90870560delinsTAGACAGGGTTTCACCA" "" "pathogenic" "" "0000373462" "10" "99" "5" "90152335" "90166377" "delins" "0" "00764" "GPR98_000281" "g.90152335_90166377delinsTAGACAGGGTTTCACCA" "" "{PMID:Reddy 2014:25211151}" "" "g.302719_316761delins17" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90856518_90870560delinsTAGACAGGGTTTCACCA" "" "pathogenic" "" "0000373463" "20" "99" "5" "90152335" "90166377" "delins" "0" "00764" "GPR98_000281" "g.90152335_90166377delinsTAGACAGGGTTTCACCA" "" "{PMID:Reddy 2014:25211151}" "" "g.302719_316761delins17" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90856518_90870560delinsTAGACAGGGTTTCACCA" "" "pathogenic" "" "0000373464" "20" "99" "5" "90152335" "90166377" "delins" "0" "00764" "GPR98_000281" "g.90152335_90166377delinsTAGACAGGGTTTCACCA" "" "{PMID:Reddy 2014:25211151}" "" "g.302719_316761delins17" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90856518_90870560delinsTAGACAGGGTTTCACCA" "" "pathogenic" "" "0000373465" "20" "99" "5" "90152335" "90166377" "delins" "0" "00764" "GPR98_000281" "g.90152335_90166377delinsTAGACAGGGTTTCACCA" "" "{PMID:Reddy 2014:25211151}" "" "g.302719_316761delins17" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90856518_90870560delinsTAGACAGGGTTTCACCA" "" "pathogenic" "" "0000373466" "1" "99" "5" "89933670" "89933674" "del" "0" "02416" "GPR98_000282" "g.89933670_89933674del" "" "{PMID:Aparisi 2014:25404053}" "" "" "heterozygous; UV4" "Germline" "" "" "0" "" "" "g.90637853_90637857del" "" "pathogenic" "" "0000373467" "2" "99" "5" "89939678" "89939678" "del" "0" "02416" "GPR98_000283" "g.89939678del" "" "{PMID:Aparisi 2014:25404053}" "" "" "heterozygous; UV4" "Germline" "" "" "0" "" "" "g.90643861del" "" "pathogenic" "" "0000373468" "0" "15" "5" "89948189" "89948189" "subst" "0.00183801" "02416" "GPR98_000284" "g.89948189G>A" "" "{PMID:Aparisi 2014:25404053}; USMA-{USMAVLGR1G1148D:} USMA-{MSV3dQ8WXG9p.Gly1148Asp:}" "" "" "heterozygous; UV3" "Germline" "" "rs200945405" "0" "" "" "g.90652372G>A" "" "likely benign" "ACMG" "0000373469" "0" "75" "5" "90055259" "90055259" "subst" "0.00147297" "02416" "GPR98_000285" "g.90055259G>A" "" "{PMID:Licastro 2012:22952768}; USMA-{USMAVLGR1D3992N:} USMA-{MSV3dQ8WXG9p.Asp3992Asn:}" "" "" "heterozygous; UV3" "Germline" "" "rs201386977" "0" "" "" "g.90759442G>A" "" "VUS" "ACMG" "0000373470" "0" "75" "5" "90055259" "90055259" "subst" "0.00147297" "02416" "GPR98_000285" "g.90055259G>A" "" "{PMID:Aparisi 2014:25404053}; USMA-{USMAVLGR1D3992N:} USMA-{MSV3dQ8WXG9p.Asp3992Asn:}" "" "" "heterozygous; UV3" "Germline" "" "rs201386977" "0" "" "" "g.90759442G>A" "" "VUS" "ACMG" "0000373471" "2" "75" "5" "90055259" "90055259" "subst" "0.00147297" "02428" "GPR98_000285" "g.90055259G>A" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMAVLGR1D3992N:} USMA-{MSV3dQ8WXG9p.Asp3992Asn:}" "" "" "heterozygous; UV3" "Germline" "" "rs201386977" "0" "" "" "g.90759442G>A" "" "VUS" "ACMG" "0000373472" "0" "75" "5" "90086924" "90086924" "subst" "0" "02416" "GPR98_000286" "g.90086924C>T" "" "{PMID:Aparisi 2014:25404053}; USMA-{USMAVLGR1P4760S:} USMA-{MSV3dQ8WXG9p.Pro4760Ser:}" "" "" "heterozygous; UV3" "Germline" "" "" "0" "" "" "g.90791107C>T" "" "VUS" "ACMG" "0000373473" "10" "75" "5" "90021015" "90021015" "subst" "0" "02416" "GPR98_000287" "g.90021015T>G" "0/200 controls" "{PMID:Kahrizi 2015:25572244}; USMA-{USMAVLGR1V3340G:} USMA-{MSV3dQ8WXG9p.Val3340Gly:}" "" "" "homozygous; probably impacts function" "Germline" "" "" "0" "" "" "g.90725198T>G" "" "VUS" "ACMG" "0000373474" "10" "75" "5" "90021015" "90021015" "subst" "0" "02416" "GPR98_000287" "g.90021015T>G" "0/200 controls" "{PMID:Kahrizi 2015:25572244}; USMA-{USMAVLGR1V3340G:} USMA-{MSV3dQ8WXG9p.Val3340Gly:}" "" "" "homozygous; probably impacts function" "Germline" "" "" "0" "" "" "g.90725198T>G" "" "VUS" "ACMG" "0000373475" "20" "75" "5" "90021015" "90021015" "subst" "0" "02416" "GPR98_000287" "g.90021015T>G" "0/200 controls" "{PMID:Kahrizi 2015:25572244}; USMA-{USMAVLGR1V3340G:} USMA-{MSV3dQ8WXG9p.Val3340Gly:}" "" "" "homozygous; probably impacts function" "Germline" "" "" "0" "" "" "g.90725198T>G" "" "VUS" "ACMG" "0000373476" "20" "75" "5" "90021015" "90021015" "subst" "0" "02416" "GPR98_000287" "g.90021015T>G" "0/200 controls" "{PMID:Kahrizi 2015:25572244}; USMA-{USMAVLGR1V3340G:} USMA-{MSV3dQ8WXG9p.Val3340Gly:}" "" "" "homozygous; probably impacts function" "Germline" "" "" "0" "" "" "g.90725198T>G" "" "VUS" "ACMG" "0000373477" "0" "11" "5" "90040890" "90040890" "subst" "0.0232014" "02416" "GPR98_000288" "g.90040890T>C" "" "{PMID:Licastro 2012:22952768}; USMA-{USMAVLGR1M3526T:} USMA-{MSV3dQ8WXG9p.Met3526Thr:}" "" "" "heterozygous" "Germline" "" "rs41311343" "0" "" "" "g.90745073T>C" "" "benign" "" "0000373478" "0" "35" "5" "90051001" "90051001" "subst" "6.06701E-5" "02416" "GPR98_000289" "g.90051001C>T" "" "{PMID:Bujakowska 2014:25468891}; USMA-{USMAVLGR1P3860L:} USMA-{MSV3dQ8WXG9p.Pro3860Leu:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90755184C>T" "" "likely benign" "ACMG" "0000373479" "0" "35" "5" "90368337" "90368337" "subst" "4.06329E-6" "02416" "GPR98_000290" "g.90368337T>G" "" "{PMID:Bujakowska 2014:25468891}; USMA-{USMAVLGR1F6076V:} USMA-{MSV3dQ8WXG9p.Phe6076Val:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.91072520T>G" "" "likely benign" "ACMG" "0000373480" "1" "99" "5" "90050972" "90050972" "del" "0" "02416" "GPR98_000291" "g.90050972del" "" "{PMID:Jiang 2015:26338283}" "" "11547delA - p.I3849fs" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.90755155del" "" "pathogenic" "" "0000373481" "2" "75" "5" "89988600" "89988600" "subst" "0" "02416" "GPR98_000292" "g.89988600G>A" "" "{PMID:Jiang 2015:26338283}; USMA-{USMAVLGR1R2377Q:} USMA-{MSV3dQ8WXG9p.Arg2377Gln:}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.90692783G>A" "" "VUS" "ACMG" "0000373482" "1" "75" "5" "90074880" "90074880" "subst" "4.07867E-6" "02416" "GPR98_000293" "g.90074880T>C" "" "{PMID:Jiang 2015:26338283}; USMA-{USMAVLGR1S4350P:} USMA-{MSV3dQ8WXG9p.Ser4350Pro:}" "" "" "heterozygous; mutation" "Germline" "" "rs760285250" "0" "" "" "g.90779063T>C" "" "VUS" "ACMG" "0000373483" "2" "75" "5" "89923284" "89923284" "subst" "9.34541E-5" "02416" "GPR98_000294" "g.89923284G>A" "" "{PMID:Jiang 2015:26338283}; USMA-{USMAVLGR1G310E:} USMA-{MSV3dQ8WXG9p.Gly310Glu:}" "" "" "heterozygous; mutation" "Germline" "" "rs766790920" "0" "" "" "g.90627467G>A" "" "VUS" "ACMG" "0000373484" "1" "99" "5" "89988476" "89988476" "subst" "0" "02416" "GPR98_000295" "g.89988476C>T" "" "{PMID:Jiang 2015:26338283}" "" "" "heterozygous; mutation" "Germline" "" "rs527236133" "0" "" "" "g.90692659C>T" "" "pathogenic" "" "0000373485" "2" "99" "5" "90087101" "90087102" "del" "0" "02416" "GPR98_000296" "g.90087101_90087102del" "" "{PMID:Jiang 2015:26338283}" "" "14451_14452del - p.4817_4818del" "; mutation" "Germline" "" "" "0" "" "" "g.90791284_90791285del" "" "pathogenic" "" "0000373486" "11" "99" "5" "89981704" "89981704" "subst" "1.63189E-5" "02416" "GPR98_000297" "g.89981704C>T" "" "{PMID:Yang 2015:26432996}" "" "" "heterozygous; pathogenic" "Germline" "" "rs727504561" "0" "" "" "g.90685887C>T" "" "pathogenic" "" "0000373487" "21" "99" "5" "90144533" "90144534" "del" "0" "02416" "GPR98_000298" "g.90144533_90144534del" "" "{PMID:Yang 2015:26432996}" "" "" "heterozygous; pathogenic" "Germline" "" "" "0" "" "" "g.90848716_90848717del" "" "pathogenic" "" "0000373488" "1" "99" "5" "89988454" "89988455" "del" "0" "02428" "GPR98_000511" "g.89988454_89988455del" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.90692637_90692638del" "" "pathogenic" "" "0000373489" "2" "99" "5" "90020807" "90020807" "subst" "0" "02428" "GPR98_000512" "g.90020807G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.90724990G>A" "" "pathogenic" "" "0000373490" "1" "99" "5" "89924617" "89924617" "subst" "2.03398E-5" "02428" "GPR98_000513" "g.89924617C>T" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "rs779948710" "0" "" "" "g.90628800C>T" "" "pathogenic" "" "0000373491" "2" "99" "5" "89924652" "89924652" "subst" "1.22731E-5" "02428" "GPR98_000514" "g.89924652A>G" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.90628835A>G" "" "pathogenic" "" "0000373492" "10" "99" "5" "90136659" "90136659" "subst" "0" "02428" "GPR98_000515" "g.90136659C>T" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90840842C>T" "" "pathogenic" "" "0000373493" "20" "99" "5" "90136659" "90136659" "subst" "0" "02428" "GPR98_000515" "g.90136659C>T" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90840842C>T" "" "pathogenic" "" "0000373494" "2" "99" "5" "89988422" "89988603" "del" "0" "02428" "GPR98_000516" "g.89988422_89988603del" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000373495" "10" "99" "5" "90025500" "90025500" "subst" "0" "02428" "GPR98_000517" "g.90025500C>T" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90729683C>T" "" "pathogenic" "" "0000373496" "20" "99" "5" "90025500" "90025500" "subst" "0" "02428" "GPR98_000517" "g.90025500C>T" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90729683C>T" "" "pathogenic" "" "0000373497" "1" "99" "5" "89979831" "89979831" "del" "0" "02428" "GPR98_000518" "g.89979831del" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.90684014del" "" "pathogenic" "" "0000373498" "2" "99" "5" "90008248" "90008248" "subst" "0" "02428" "GPR98_000519" "g.90008248A>G" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "rs775123119" "0" "" "" "g.90712431A>G" "" "pathogenic" "" "0000373499" "1" "99" "5" "90059144" "90059144" "subst" "0" "02428" "GPR98_000520" "g.90059144C>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.90763327C>A" "" "pathogenic" "" "0000373500" "2" "99" "5" "89943315" "90125003" "dup" "0" "02428" "GPR98_000521" "g.89943315_90125003dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000373501" "0" "99" "5" "90281212" "90281212" "subst" "0" "02428" "GPR98_000522" "g.90281212C>T" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.90985395C>T" "" "pathogenic" "" "0000373502" "0" "99" "5" "90025559" "90025559" "dup" "0" "02428" "GPR98_000523" "g.90025559dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.90729742dup" "" "pathogenic" "" "0000373503" "1" "99" "5" "90020777" "90020777" "subst" "4.19925E-6" "02428" "GPR98_000524" "g.90020777C>T" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "rs769215629" "0" "" "" "g.90724960C>T" "" "pathogenic" "" "0000373504" "2" "75" "5" "89949463" "89949463" "subst" "0" "02428" "GPR98_000525" "g.89949463T>C" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMAVLGR1S1358P:} USMA-{MSV3dQ8WXG9p.Ser1358Pro:}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.90653646T>C" "" "VUS" "ACMG" "0000373505" "1" "99" "5" "89979871" "89979871" "subst" "0" "02428" "GPR98_000526" "g.89979871G>T" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "rs41308846" "0" "" "" "g.90684054G>T" "" "pathogenic" "" "0000373506" "2" "99" "5" "90021365" "90021365" "subst" "0" "02428" "GPR98_000527" "g.90021365G>T" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.90725548G>T" "" "pathogenic" "" "0000373507" "10" "99" "5" "89925125" "89925125" "subst" "0" "02428" "GPR98_000528" "g.89925125C>G" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90629308C>G" "" "pathogenic" "" "0000373508" "20" "99" "5" "89925125" "89925125" "subst" "0" "02428" "GPR98_000528" "g.89925125C>G" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.90629308C>G" "" "pathogenic" "" "0000373509" "1" "99" "5" "90107058" "90107058" "del" "0" "02428" "GPR98_000529" "g.90107058del" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.90811241del" "" "pathogenic" "" "0000373510" "2" "99" "5" "89992813" "89992813" "del" "0" "02428" "GPR98_000530" "g.89992813del" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "rs757776405" "0" "" "" "g.90696996del" "" "pathogenic" "" "0000373511" "2" "99" "5" "90459680" "90459683" "del" "0" "02428" "GPR98_000531" "g.90459680_90459683del" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.91163863_91163866del" "" "pathogenic" "" "0000373512" "0" "99" "5" "89953722" "90111553" "del" "0" "02428" "GPR98_000532" "g.89953722_90111553del" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000373513" "1" "99" "5" "89925218" "89925218" "del" "0" "02428" "GPR98_000533" "g.89925218del" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.90629401del" "" "pathogenic" "" "0000373514" "2" "75" "5" "90261284" "90261284" "subst" "0" "02428" "GPR98_000534" "g.90261284G>C" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMAVLGR1C5970S:} USMA-{MSV3dQ8WXG9p.Cys5970Ser:}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.90965467G>C" "" "VUS" "ACMG" "0000373515" "0" "75" "5" "90041081" "90041081" "subst" "0.00020746" "02428" "GPR98_000535" "g.90041081A>T" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMAVLGR1S3590C:} USMA-{MSV3dQ8WXG9p.Ser3591Cys:}" "" "" "heterozygous; mutation" "Germline" "" "rs183319660" "0" "" "" "g.90745264A>T" "" "VUS" "ACMG" "0000373516" "3" "75" "5" "89992892" "89992892" "subst" "4.06699E-6" "02416" "GPR98_000536" "g.89992892T>G" "" "{PMID:Baux, Vaché 2017:29196752}; USMA-{USMAVLGR1I2695S:} USMA-{MSV3dQ8WXG9p.Ile2695Ser:}" "" "" "homozygous" "Germline" "" "rs763107875" "0" "" "" "g.90697075T>G" "" "VUS" "ACMG" "0000373518" "21" "99" "5" "90074764" "90074764" "del" "0" "02416" "GPR98_000537" "g.90074764del" "" "{PMID:Baux, Vaché 2017:29196752}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.90778947del" "" "pathogenic" "" "0000480154" "0" "99" "5" "90459679" "90459682" "del" "4.17404E-6" "01807" "GPR98_010468" "g.90459679_90459682del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91163862_91163865del" "" "pathogenic" "" "0000526278" "0" "10" "5" "89854743" "89854743" "subst" "0.00057317" "02330" "GPR98_010469" "g.89854743T>C" "" "" "" "ADGRV1(NM_032119.4):c.22+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90558926T>C" "" "benign" "" "0000526279" "0" "30" "5" "89854743" "89854743" "subst" "0.00057317" "01943" "GPR98_010469" "g.89854743T>C" "" "" "" "ADGRV1(NM_032119.4):c.22+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90558926T>C" "" "likely benign" "" "0000526280" "0" "30" "5" "89909988" "89909989" "del" "0" "02326" "GPR98_010470" "g.89909988_89909989del" "" "" "" "ADGRV1(NM_032119.4):c.23-664_23-663delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90614171_90614172del" "" "likely benign" "" "0000526281" "0" "10" "5" "89910671" "89910671" "subst" "8.20479E-6" "02326" "GPR98_010471" "g.89910671A>T" "" "" "" "ADGRV1(NM_032119.4):c.42A>T (p.L14F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90614854A>T" "" "benign" "" "0000526282" "0" "10" "5" "89913778" "89913778" "subst" "0.000170868" "02330" "GPR98_010472" "g.89913778C>T" "" "" "" "ADGRV1(NM_032119.4):c.357+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90617961C>T" "" "benign" "" "0000526283" "0" "30" "5" "89913806" "89913806" "del" "0" "02326" "GPR98_010473" "g.89913806del" "" "" "" "ADGRV1(NM_032119.4):c.357+36delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90617989del" "" "likely benign" "" "0000526284" "0" "30" "5" "89913811" "89913811" "dup" "0" "02326" "GPR98_010474" "g.89913811dup" "" "" "" "ADGRV1(NM_032119.4):c.357+41dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90617994dup" "" "likely benign" "" "0000526285" "0" "30" "5" "89918426" "89918426" "subst" "0.000181164" "01943" "GPR98_010475" "g.89918426G>A" "" "" "" "ADGRV1(NM_032119.4):c.466G>A (p.A156T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90622609G>A" "" "likely benign" "" "0000526286" "0" "50" "5" "89920962" "89920962" "subst" "2.45497E-5" "01943" "GPR98_010476" "g.89920962A>G" "" "" "" "ADGRV1(NM_032119.4):c.574A>G (p.N192D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90625145A>G" "" "VUS" "" "0000526287" "0" "50" "5" "89921037" "89921037" "subst" "0" "02330" "GPR98_010477" "g.89921037A>G" "" "" "" "ADGRV1(NM_032119.4):c.649A>G (p.N217D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90625220A>G" "" "VUS" "" "0000526288" "0" "50" "5" "89923208" "89923208" "subst" "0.000446918" "02327" "GPR98_010033" "g.89923208C>G" "" "" "" "ADGRV1(NM_032119.4):c.853C>G (p.R285G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90627391C>G" "" "VUS" "" "0000526289" "0" "50" "5" "89923410" "89923410" "subst" "2.84453E-5" "02327" "GPR98_010478" "g.89923410C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90627593C>T" "" "VUS" "" "0000526290" "0" "30" "5" "89923411" "89923411" "subst" "0.000260078" "02330" "GPR98_010035" "g.89923411G>A" "" "" "" "ADGRV1(NM_032119.4):c.1056G>A (p.P352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90627594G>A" "" "likely benign" "" "0000526291" "0" "10" "5" "89923441" "89923441" "subst" "0.00239761" "02330" "GPR98_010036" "g.89923441A>G" "" "" "" "ADGRV1(NM_032119.4):c.1086A>G (p.L362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90627624A>G" "" "benign" "" "0000526292" "0" "90" "5" "89924429" "89924430" "del" "0" "01943" "GPR98_010479" "g.89924429_89924430del" "" "" "" "ADGRV1(NM_032119.4):c.1289_1290delCT (p.S430Cfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90628612_90628613del" "" "pathogenic" "" "0000526294" "0" "50" "5" "89924514" "89924514" "subst" "0.000426486" "01943" "GPR98_010480" "g.89924514T>A" "" "" "" "ADGRV1(NM_032119.4):c.1374T>A (p.F458L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90628697T>A" "" "VUS" "" "0000526295" "0" "50" "5" "89925049" "89925049" "subst" "0" "01943" "GPR98_010481" "g.89925049G>A" "" "" "" "ADGRV1(NM_032119.4):c.1532G>A (p.S511N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90629232G>A" "" "VUS" "" "0000526296" "0" "10" "5" "89925363" "89925363" "subst" "0.00256604" "02330" "GPR98_010047" "g.89925363G>A" "" "" "" "ADGRV1(NM_032119.4):c.1839+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90629546G>A" "" "benign" "" "0000526297" "0" "50" "5" "89933570" "89933570" "subst" "4.08227E-6" "01943" "GPR98_010482" "g.89933570C>G" "" "" "" "ADGRV1(NM_032119.4):c.2045C>G (p.T682S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90637753C>G" "" "VUS" "" "0000526299" "0" "50" "5" "89938496" "89938496" "subst" "0.000288627" "01943" "GPR98_000117" "g.89938496C>T" "" "" "" "ADGRV1(NM_032119.4):c.2284C>T (p.R762C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90642679C>T" "" "VUS" "" "0000526300" "0" "50" "5" "89938532" "89938532" "subst" "0" "02327" "GPR98_010484" "g.89938532G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90642715G>A" "" "VUS" "" "0000526301" "0" "10" "5" "89938567" "89938567" "subst" "0" "02330" "GPR98_010485" "g.89938567C>T" "" "" "" "ADGRV1(NM_032119.4):c.2355C>T (p.P785=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90642750C>T" "" "benign" "" "0000526302" "0" "50" "5" "89938704" "89938704" "subst" "4.11164E-6" "02325" "GPR98_010486" "g.89938704G>C" "" "" "" "ADGRV1(NM_032119.4):c.2399G>C (p.R800P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90642887G>C" "" "VUS" "" "0000526303" "0" "50" "5" "89939702" "89939702" "subst" "0.000107139" "02327" "GPR98_010487" "g.89939702C>T" "" "" "" "ADGRV1(NM_032119.4):c.2636C>T (p.T879M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90643885C>T" "" "VUS" "" "0000526304" "0" "30" "5" "89943443" "89943443" "subst" "0.00208562" "01943" "GPR98_000241" "g.89943443G>T" "" "" "" "ADGRV1(NM_032119.4):c.3151G>T (p.D1051Y, p.(Asp1051Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90647626G>T" "" "likely benign" "" "0000526305" "0" "30" "5" "89943443" "89943443" "subst" "0.00208562" "02326" "GPR98_000241" "g.89943443G>T" "" "" "" "ADGRV1(NM_032119.4):c.3151G>T (p.D1051Y, p.(Asp1051Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90647626G>T" "" "likely benign" "" "0000526306" "0" "10" "5" "89943547" "89943547" "subst" "0.00142756" "02330" "GPR98_000087" "g.89943547T>C" "" "" "" "ADGRV1(NM_032119.4):c.3255T>C (p.D1085=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90647730T>C" "" "benign" "" "0000526307" "0" "10" "5" "89943772" "89943773" "ins" "0" "02326" "GPR98_010488" "g.89943772_89943773insC" "" "" "" "ADGRV1(NM_032119.4):c.3289+191_3289+192insC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90647955_90647956insC" "" "benign" "" "0000526308" "0" "30" "5" "89947434" "89947434" "subst" "0.00264945" "01943" "GPR98_010083" "g.89947434A>G" "" "" "" "ADGRV1(NM_032119.4):c.3303A>G (p.V1101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90651617A>G" "" "likely benign" "" "0000526309" "0" "50" "5" "89947528" "89947528" "subst" "0" "02330" "GPR98_010489" "g.89947528G>A" "" "" "" "ADGRV1(NM_032119.4):c.3397G>A (p.G1133R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90651711G>A" "" "VUS" "" "0000526310" "0" "30" "5" "89947568" "89947568" "subst" "0" "02326" "GPR98_010490" "g.89947568C>T" "" "" "" "ADGRV1(NM_032119.4):c.3416+21C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90651751C>T" "" "likely benign" "" "0000526311" "0" "50" "5" "89949053" "89949053" "subst" "0" "01943" "GPR98_010491" "g.89949053T>C" "" "" "" "ADGRV1(NM_032119.4):c.3662T>C (p.L1221P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90653236T>C" "" "VUS" "" "0000526312" "0" "30" "5" "89949160" "89949160" "subst" "4.06392E-6" "01804" "GPR98_010492" "g.89949160G>A" "" "" "" "GPR98(NM_032119.3):c.3769G>A (p.(Val1257Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90653343G>A" "" "likely benign" "" "0000526313" "0" "30" "5" "89949210" "89949210" "subst" "4.87654E-5" "01943" "GPR98_010493" "g.89949210G>A" "" "" "" "ADGRV1(NM_032119.4):c.3819G>A (p.R1273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90653393G>A" "" "likely benign" "" "0000526314" "0" "90" "5" "89949337" "89949338" "ins" "0" "01943" "GPR98_010494" "g.89949337_89949338insGC" "" "" "" "ADGRV1(NM_032119.4):c.3946_3947insGC (p.Q1316Rfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90653520_90653521insGC" "" "pathogenic" "" "0000526315" "0" "50" "5" "89949338" "89949338" "subst" "0" "01943" "GPR98_010495" "g.89949338A>C" "" "" "" "ADGRV1(NM_032119.4):c.3947A>C (p.Q1316P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90653521A>C" "" "VUS" "" "0000526316" "0" "10" "5" "89949347" "89949347" "subst" "0.000865966" "01943" "GPR98_010496" "g.89949347G>A" "" "" "" "ADGRV1(NM_032119.4):c.3956G>A (p.R1319Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90653530G>A" "" "benign" "" "0000526317" "0" "90" "5" "89949499" "89949499" "subst" "0" "02329" "GPR98_010092" "g.89949499T>G" "" "" "" "ADGRV1(NM_032119.4):c.4108T>G (p.F1370V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90653682T>G" "" "pathogenic" "" "0000526318" "0" "30" "5" "89949519" "89949519" "subst" "0.000389587" "01943" "GPR98_010093" "g.89949519C>T" "" "" "" "ADGRV1(NM_032119.4):c.4128C>T (p.D1376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90653702C>T" "" "likely benign" "" "0000526319" "0" "30" "5" "89949543" "89949543" "subst" "0" "01943" "GPR98_010497" "g.89949543G>T" "" "" "" "ADGRV1(NM_032119.4):c.4152G>T (p.G1384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90653726G>T" "" "likely benign" "" "0000526320" "0" "50" "5" "89949605" "89949605" "subst" "0.00115148" "01943" "GPR98_000120" "g.89949605C>T" "" "" "" "ADGRV1(NM_032119.4):c.4214C>T (p.S1405F, p.(Ser1405Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90653788C>T" "" "VUS" "" "0000526321" "0" "30" "5" "89949605" "89949605" "subst" "0.00115148" "02326" "GPR98_000120" "g.89949605C>T" "" "" "" "ADGRV1(NM_032119.4):c.4214C>T (p.S1405F, p.(Ser1405Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90653788C>T" "" "likely benign" "" "0000526322" "0" "30" "5" "89949651" "89949651" "subst" "0.00556048" "02330" "GPR98_000080" "g.89949651A>G" "" "" "" "ADGRV1(NM_032119.4):c.4260A>G (p.E1420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90653834A>G" "" "likely benign" "" "0000526323" "0" "50" "5" "89949651" "89949651" "subst" "0.00556048" "01943" "GPR98_000080" "g.89949651A>G" "" "" "" "ADGRV1(NM_032119.4):c.4260A>G (p.E1420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90653834A>G" "" "VUS" "" "0000526324" "0" "10" "5" "89949651" "89949651" "subst" "0.00556048" "02325" "GPR98_000080" "g.89949651A>G" "" "" "" "ADGRV1(NM_032119.4):c.4260A>G (p.E1420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90653834A>G" "" "benign" "" "0000526325" "0" "50" "5" "89949764" "89949764" "subst" "2.5504E-5" "02330" "GPR98_010498" "g.89949764C>G" "" "" "" "ADGRV1(NM_032119.4):c.4373C>G (p.T1458S, p.(Thr1458Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90653947C>G" "" "VUS" "" "0000526326" "0" "50" "5" "89953772" "89953772" "subst" "0.000178968" "01943" "GPR98_010499" "g.89953772A>G" "" "" "" "ADGRV1(NM_032119.4):c.4429A>G (p.T1477A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90657955A>G" "" "VUS" "" "0000526327" "0" "50" "5" "89953850" "89953850" "subst" "0.000259981" "02325" "GPR98_010097" "g.89953850G>A" "" "" "" "ADGRV1(NM_032119.4):c.4507G>A (p.A1503T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90658033G>A" "" "VUS" "" "0000526328" "0" "50" "5" "89953937" "89953937" "subst" "3.66068E-5" "02330" "GPR98_010500" "g.89953937G>T" "" "" "" "ADGRV1(NM_032119.4):c.4594G>T (p.D1532Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90658120G>T" "" "VUS" "" "0000526329" "0" "30" "5" "89968233" "89968233" "subst" "0" "02326" "GPR98_010501" "g.89968233G>C" "" "" "" "ADGRV1(NM_032119.4):c.4753-130G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90672416G>C" "" "likely benign" "" "0000526330" "0" "30" "5" "89968380" "89968380" "subst" "0.000223645" "02330" "GPR98_010502" "g.89968380A>G" "" "" "" "ADGRV1(NM_032119.4):c.4770A>G (p.S1590=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90672563A>G" "" "likely benign" "" "0000526331" "0" "30" "5" "89971127" "89971127" "subst" "4.06759E-5" "01943" "GPR98_010503" "g.89971127C>T" "" "" "" "ADGRV1(NM_032119.4):c.5178C>T (p.S1726=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90675310C>T" "" "likely benign" "" "0000526332" "0" "10" "5" "89971170" "89971170" "subst" "0.000849614" "02326" "GPR98_000049" "g.89971170T>C" "" "" "" "ADGRV1(NM_032119.4):c.5221T>C (p.L1741=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90675353T>C" "" "benign" "" "0000526333" "0" "10" "5" "89975349" "89975349" "dup" "0" "02330" "GPR98_010504" "g.89975349dup" "" "" "" "ADGRV1(NM_032119.4):c.5444-17dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90679532dup" "" "benign" "" "0000526334" "0" "30" "5" "89975513" "89975513" "subst" "0" "02326" "GPR98_010505" "g.89975513A>G" "" "" "" "ADGRV1(NM_032119.4):c.5524+67A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90679696A>G" "" "likely benign" "" "0000526335" "0" "10" "5" "89977105" "89977105" "del" "0" "02326" "GPR98_010506" "g.89977105del" "" "" "" "ADGRV1(NM_032119.4):c.5525-27delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90681288del" "" "benign" "" "0000526337" "0" "50" "5" "89977144" "89977144" "subst" "5.28993E-5" "01943" "GPR98_010507" "g.89977144T>C" "" "" "" "ADGRV1(NM_032119.4):c.5537T>C (p.V1846A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90681327T>C" "" "VUS" "" "0000526338" "0" "50" "5" "89979425" "89979425" "subst" "2.05283E-5" "02330" "GPR98_010508" "g.89979425T>C" "" "" "" "ADGRV1(NM_032119.4):c.5687T>C (p.L1896P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90683608T>C" "" "VUS" "" "0000526339" "0" "10" "5" "89979518" "89979518" "subst" "0.0714855" "02327" "GPR98_000160" "g.89979518C>T" "" "" "" "ADGRV1(NM_032119.4):c.5780C>T (p.T1927M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90683701C>T" "" "benign" "" "0000526340" "0" "50" "5" "89979523" "89979523" "subst" "4.88186E-5" "01943" "GPR98_010509" "g.89979523G>A" "" "" "" "ADGRV1(NM_032119.4):c.5785G>A (p.A1929T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90683706G>A" "" "VUS" "" "0000526341" "0" "50" "5" "89979523" "89979523" "subst" "0.000687528" "01943" "GPR98_000094" "g.89979523G>T" "" "" "" "ADGRV1(NM_032119.4):c.5785G>T (p.A1929S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90683706G>T" "" "VUS" "" "0000526342" "0" "50" "5" "89979568" "89979568" "subst" "0.00428387" "01943" "GPR98_000022" "g.89979568G>A" "" "" "" "ADGRV1(NM_032119.4):c.5830G>A (p.D1944N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90683751G>A" "" "VUS" "" "0000526344" "0" "30" "5" "89979568" "89979568" "subst" "0.00428387" "02326" "GPR98_000022" "g.89979568G>A" "" "" "" "ADGRV1(NM_032119.4):c.5830G>A (p.D1944N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90683751G>A" "" "likely benign" "" "0000526345" "0" "10" "5" "89979589" "89979589" "subst" "0.709158" "02327" "GPR98_000161" "g.89979589G>A" "" "" "" "ADGRV1(NM_032119.4):c.5851G>A (p.V1951I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90683772G>A" "" "benign" "" "0000526346" "0" "50" "5" "89979677" "89979677" "subst" "4.08573E-6" "02327" "GPR98_010510" "g.89979677T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90683860T>C" "" "VUS" "" "0000526347" "0" "50" "5" "89979691" "89979691" "subst" "0.000250012" "02330" "GPR98_010511" "g.89979691A>C" "" "" "" "ADGRV1(NM_032119.4):c.5953A>C (p.N1985H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90683874A>C" "" "VUS" "" "0000526348" "0" "10" "5" "89979691" "89979691" "subst" "0.179837" "02327" "GPR98_000191" "g.89979691A>G" "" "" "" "ADGRV1(NM_032119.4):c.5953A>G (p.N1985D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90683874A>G" "" "benign" "" "0000526349" "0" "30" "5" "89979700" "89979700" "subst" "8.18498E-6" "01943" "GPR98_010512" "g.89979700G>A" "" "" "" "ADGRV1(NM_032119.4):c.5962G>A (p.V1988I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90683883G>A" "" "likely benign" "" "0000526350" "0" "30" "5" "89979796" "89979796" "subst" "0" "01804" "GPR98_010513" "g.89979796G>A" "" "" "" "GPR98(NM_032119.3):c.6058G>A (p.(Asp2020Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90683979G>A" "" "likely benign" "" "0000526351" "0" "30" "5" "89979981" "89979981" "subst" "0" "01943" "GPR98_010514" "g.89979981T>C" "" "" "" "ADGRV1(NM_032119.4):c.6243T>C (p.S2081=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90684164T>C" "" "likely benign" "" "0000526352" "0" "10" "5" "89981461" "89981461" "subst" "0" "02326" "GPR98_010515" "g.89981461T>A" "" "" "" "ADGRV1(NM_032119.4):c.6275-136T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90685644T>A" "" "benign" "" "0000526353" "0" "30" "5" "89981639" "89981639" "subst" "0.00145936" "02330" "GPR98_000108" "g.89981639C>T" "" "" "" "ADGRV1(NM_032119.4):c.6317C>T (p.A2106V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90685822C>T" "" "likely benign" "" "0000526354" "0" "30" "5" "89981639" "89981639" "subst" "0.00145936" "01943" "GPR98_000108" "g.89981639C>T" "" "" "" "ADGRV1(NM_032119.4):c.6317C>T (p.A2106V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90685822C>T" "" "likely benign" "" "0000526355" "0" "30" "5" "89981639" "89981639" "subst" "0.00145936" "02326" "GPR98_000108" "g.89981639C>T" "" "" "" "ADGRV1(NM_032119.4):c.6317C>T (p.A2106V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90685822C>T" "" "likely benign" "" "0000526356" "0" "30" "5" "89981640" "89981640" "subst" "0.00385984" "01943" "GPR98_000131" "g.89981640G>A" "" "" "" "ADGRV1(NM_032119.4):c.6318G>A (p.A2106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90685823G>A" "" "likely benign" "" "0000526357" "0" "30" "5" "89981642" "89981642" "subst" "0.00467118" "02326" "GPR98_010516" "g.89981642A>C" "" "" "" "ADGRV1(NM_032119.4):c.6320A>C (p.Q2107P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90685825A>C" "" "likely benign" "" "0000526358" "0" "50" "5" "89985692" "89985692" "subst" "4.09648E-6" "01943" "GPR98_010517" "g.89985692A>G" "" "" "" "ADGRV1(NM_032119.4):c.6505A>G (p.I2169V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90689875A>G" "" "VUS" "" "0000526359" "0" "50" "5" "89985755" "89985755" "subst" "4.09185E-6" "01943" "GPR98_010518" "g.89985755A>G" "" "" "" "ADGRV1(NM_032119.4):c.6568A>G (p.I2190V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90689938A>G" "" "VUS" "" "0000526360" "0" "30" "5" "89985795" "89985795" "subst" "0.00257259" "01943" "GPR98_000031" "g.89985795T>C" "" "" "" "ADGRV1(NM_032119.4):c.6608T>C (p.V2203A, p.(Val2203Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90689978T>C" "" "likely benign" "" "0000526361" "0" "30" "5" "89985795" "89985795" "subst" "0.00257259" "02326" "GPR98_000031" "g.89985795T>C" "" "" "" "ADGRV1(NM_032119.4):c.6608T>C (p.V2203A, p.(Val2203Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90689978T>C" "" "likely benign" "" "0000526362" "0" "30" "5" "89985795" "89985795" "subst" "0.00257259" "02325" "GPR98_000031" "g.89985795T>C" "" "" "" "ADGRV1(NM_032119.4):c.6608T>C (p.V2203A, p.(Val2203Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90689978T>C" "" "likely benign" "" "0000526363" "0" "90" "5" "89985822" "89985822" "del" "0" "01943" "GPR98_010519" "g.89985822del" "" "" "" "ADGRV1(NM_032119.4):c.6635delG (p.G2212Efs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90690005del" "" "pathogenic" "" "0000526364" "0" "50" "5" "89986637" "89986637" "subst" "1.36047E-5" "01943" "GPR98_010520" "g.89986637G>A" "" "" "" "ADGRV1(NM_032119.4):c.6730G>A (p.V2244I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90690820G>A" "" "VUS" "" "0000526365" "0" "30" "5" "89987083" "89987083" "dup" "0" "02326" "GPR98_010521" "g.89987083dup" "" "" "" "ADGRV1(NM_032119.4):c.6951+225dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90691266dup" "" "likely benign" "" "0000526366" "0" "30" "5" "89988509" "89988509" "subst" "0" "02330" "GPR98_010522" "g.89988509G>A" "" "" "" "ADGRV1(NM_032119.4):c.7039G>A (p.D2347N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90692692G>A" "" "likely benign" "" "0000526367" "0" "30" "5" "89988705" "89988705" "dup" "0" "02326" "GPR98_010523" "g.89988705dup" "" "" "" "ADGRV1(NM_032119.4):c.7133+102dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90692888dup" "" "likely benign" "" "0000526368" "0" "50" "5" "89989708" "89989708" "subst" "2.0877E-5" "02330" "GPR98_010524" "g.89989708G>A" "" "" "" "ADGRV1(NM_032119.4):c.7135G>A (p.G2379R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90693891G>A" "" "VUS" "" "0000526369" "0" "30" "5" "89989749" "89989749" "subst" "8.48752E-5" "01943" "GPR98_010525" "g.89989749C>G" "" "" "" "ADGRV1(NM_032119.4):c.7176C>G (p.S2392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90693932C>G" "" "likely benign" "" "0000526370" "0" "10" "5" "89989749" "89989749" "subst" "0.0034714" "02330" "GPR98_000032" "g.89989749C>T" "" "" "" "ADGRV1(NM_032119.4):c.7176C>T (p.S2392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90693932C>T" "" "benign" "" "0000526371" "0" "30" "5" "89989749" "89989749" "subst" "0.0034714" "01943" "GPR98_000032" "g.89989749C>T" "" "" "" "ADGRV1(NM_032119.4):c.7176C>T (p.S2392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90693932C>T" "" "likely benign" "" "0000526372" "0" "50" "5" "89989834" "89989834" "subst" "0" "02330" "GPR98_010526" "g.89989834C>T" "" "" "" "ADGRV1(NM_032119.4):c.7261C>T (p.P2421S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90694017C>T" "" "VUS" "" "0000526373" "0" "30" "5" "89989848" "89989848" "subst" "0" "01943" "GPR98_010527" "g.89989848T>G" "" "" "" "ADGRV1(NM_032119.4):c.7275T>G (p.T2425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90694031T>G" "" "likely benign" "" "0000526374" "0" "30" "5" "89989885" "89989885" "subst" "4.06772E-6" "01943" "GPR98_010528" "g.89989885A>G" "" "" "" "ADGRV1(NM_032119.4):c.7312A>G (p.T2438A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90694068A>G" "" "likely benign" "" "0000526375" "0" "30" "5" "89990215" "89990215" "subst" "0" "01943" "GPR98_010529" "g.89990215A>G" "" "" "" "ADGRV1(NM_032119.4):c.7642A>G (p.M2548V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90694398A>G" "" "likely benign" "" "0000526376" "0" "10" "5" "89990379" "89990379" "subst" "0.000215512" "02330" "GPR98_010171" "g.89990379C>G" "" "" "" "ADGRV1(NM_032119.4):c.7806C>G (p.P2602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90694562C>G" "" "benign" "" "0000526377" "0" "50" "5" "89990440" "89990440" "subst" "0.000101878" "01943" "GPR98_010396" "g.89990440G>A" "" "" "" "ADGRV1(NM_032119.4):c.7867G>A (p.E2623K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90694623G>A" "" "VUS" "" "0000526378" "0" "10" "5" "89990447" "89990447" "subst" "0.00247599" "02330" "GPR98_000086" "g.89990447G>A" "" "" "" "ADGRV1(NM_032119.4):c.7874G>A (p.R2625H), GPR98(NM_032119.3):c.7874G>A (p.(Arg2625His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90694630G>A" "" "benign" "" "0000526379" "0" "50" "5" "89990462" "89990462" "subst" "0" "02327" "GPR98_010530" "g.89990462C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90694645C>A" "" "VUS" "" "0000526380" "0" "50" "5" "89992921" "89992921" "subst" "2.03452E-5" "01943" "GPR98_010179" "g.89992921G>C" "" "" "" "ADGRV1(NM_032119.4):c.8113G>C (p.V2705L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90697104G>C" "" "VUS" "" "0000526381" "0" "30" "5" "89999487" "89999487" "subst" "0.000495921" "01943" "GPR98_010180" "g.89999487A>G" "" "" "" "ADGRV1(NM_032119.4):c.8161A>G (p.I2721V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90703670A>G" "" "likely benign" "" "0000526382" "0" "10" "5" "90000195" "90000195" "subst" "5.82873E-6" "02330" "GPR98_010182" "g.90000195G>C" "" "" "" "ADGRV1(NM_032119.4):c.8287-11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90704378G>C" "" "benign" "" "0000526384" "0" "30" "5" "90001299" "90001299" "subst" "4.06405E-6" "01943" "GPR98_010531" "g.90001299T>C" "" "" "" "ADGRV1(NM_032119.4):c.8469T>C (p.H2823=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90705482T>C" "" "likely benign" "" "0000526385" "0" "10" "5" "90002053" "90002053" "subst" "0.000981025" "02330" "GPR98_010188" "g.90002053A>G" "" "" "" "ADGRV1(NM_032119.4):c.8572A>G (p.I2858V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90706236A>G" "" "benign" "" "0000526386" "0" "30" "5" "90002053" "90002053" "subst" "0.000981025" "01943" "GPR98_010188" "g.90002053A>G" "" "" "" "ADGRV1(NM_032119.4):c.8572A>G (p.I2858V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90706236A>G" "" "likely benign" "" "0000526387" "0" "50" "5" "90002173" "90002173" "subst" "0.000151714" "01943" "GPR98_010532" "g.90002173G>C" "" "" "" "ADGRV1(NM_032119.4):c.8692G>C (p.G2898R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90706356G>C" "" "VUS" "" "0000526388" "0" "10" "5" "90002181" "90002181" "subst" "0" "02330" "GPR98_010533" "g.90002181A>T" "" "" "" "ADGRV1(NM_032119.4):c.8700A>T (p.T2900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90706364A>T" "" "benign" "" "0000526389" "0" "30" "5" "90002232" "90002232" "dup" "0" "01943" "GPR98_010192" "g.90002232dup" "" "" "" "ADGRV1(NM_032119.4):c.8730+21dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90706415dup" "" "likely benign" "" "0000526390" "0" "50" "5" "90004726" "90004726" "subst" "4.07488E-6" "01943" "GPR98_010534" "g.90004726G>C" "" "" "" "ADGRV1(NM_032119.4):c.8824G>C (p.D2942H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90708909G>C" "" "VUS" "" "0000526391" "0" "50" "5" "90008219" "90008219" "subst" "0" "02325" "GPR98_010535" "g.90008219G>T" "" "" "" "ADGRV1(NM_032119.4):c.9158G>T (p.G3053V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90712402G>T" "" "VUS" "" "0000526392" "0" "50" "5" "90015916" "90015916" "subst" "1.22201E-5" "01943" "GPR98_010536" "g.90015916T>G" "" "" "" "ADGRV1(NM_032119.4):c.9499T>G (p.F3167V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90720099T>G" "" "VUS" "" "0000526394" "0" "50" "5" "90020914" "90020914" "subst" "0" "02330" "GPR98_010537" "g.90020914A>G" "" "" "" "ADGRV1(NM_032119.4):c.9918A>G (p.I3306M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90725097A>G" "" "VUS" "" "0000526395" "0" "50" "5" "90021012" "90021012" "subst" "2.11376E-5" "02327" "GPR98_000060" "g.90021012G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90725195G>A" "" "VUS" "" "0000526396" "0" "30" "5" "90021353" "90021353" "subst" "0.000291041" "02326" "GPR98_010538" "g.90021353T>A" "" "" "" "ADGRV1(NM_032119.4):c.10054-13T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90725536T>A" "" "likely benign" "" "0000526399" "0" "50" "5" "90046390" "90046390" "subst" "3.27834E-5" "01943" "GPR98_010539" "g.90046390A>G" "" "" "" "ADGRV1(NM_032119.4):c.10997A>G (p.E3666G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90750573A>G" "" "VUS" "" "0000526400" "0" "50" "5" "90046447" "90046447" "subst" "4.06547E-6" "01943" "GPR98_010540" "g.90046447A>G" "" "" "" "ADGRV1(NM_032119.4):c.11054A>G (p.Y3685C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90750630A>G" "" "VUS" "" "0000526401" "0" "30" "5" "90049501" "90049501" "subst" "3.25396E-5" "01943" "GPR98_010541" "g.90049501A>G" "" "" "" "ADGRV1(NM_032119.4):c.11232A>G (p.T3744=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90753684A>G" "" "likely benign" "" "0000526402" "0" "50" "5" "90049578" "90049578" "subst" "3.25977E-5" "01943" "GPR98_010542" "g.90049578A>G" "" "" "" "ADGRV1(NM_032119.4):c.11309A>G (p.N3770S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90753761A>G" "" "VUS" "" "0000526403" "0" "50" "5" "90050829" "90050829" "subst" "0" "02330" "GPR98_010543" "g.90050829G>A" "" "" "" "ADGRV1(NM_032119.4):c.11407G>A (p.A3803T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90755012G>A" "" "VUS" "" "0000526404" "0" "50" "5" "90050833" "90050833" "subst" "0" "02330" "GPR98_010544" "g.90050833G>T" "" "" "" "ADGRV1(NM_032119.4):c.11411G>T (p.R3804L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90755016G>T" "" "VUS" "" "0000526405" "0" "30" "5" "90051002" "90051002" "subst" "0" "02330" "GPR98_010545" "g.90051002G>A" "" "" "" "ADGRV1(NM_032119.4):c.11580G>A (p.P3860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90755185G>A" "" "likely benign" "" "0000526406" "0" "30" "5" "90051086" "90051088" "dup" "0" "02326" "GPR98_000171" "g.90051086_90051088dup" "" "" "" "ADGRV1(NM_032119.4):c.11580+84_11580+86dupCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90755269_90755271dup" "" "likely benign" "" "0000526407" "0" "30" "5" "90051088" "90051089" "ins" "0" "02326" "GPR98_010546" "g.90051088_90051089insCCT" "" "" "" "ADGRV1(NM_032119.4):c.11580+86_11580+87insCCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90755271_90755272insCCT" "" "likely benign" "" "0000526408" "0" "30" "5" "90052268" "90052269" "ins" "2.02049E-5" "01943" "GPR98_010547" "g.90052268_90052269insCA" "" "" "" "ADGRV1(NM_032119.4):c.11581-3_11581-2insCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90756451_90756452insCA" "" "likely benign" "" "0000526409" "0" "70" "5" "90052269" "90052269" "dup" "0" "01943" "GPR98_010548" "g.90052269dup" "" "" "" "ADGRV1(NM_032119.4):c.11581-2dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90756452dup" "" "likely pathogenic" "" "0000526410" "0" "10" "5" "90052435" "90052435" "subst" "0.000175479" "02330" "GPR98_010549" "g.90052435T>C" "" "" "" "ADGRV1(NM_032119.4):c.11745T>C (p.F3915=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90756618T>C" "" "benign" "" "0000526411" "0" "10" "5" "90053195" "90053196" "ins" "0" "02326" "GPR98_010550" "g.90053195_90053196insT" "" "" "" "ADGRV1(NM_032119.4):c.11940+217_11940+218insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90757378_90757379insT" "" "benign" "" "0000526412" "0" "50" "5" "90055247" "90055247" "subst" "5.61754E-6" "01943" "GPR98_010551" "g.90055247A>G" "" "" "" "ADGRV1(NM_032119.4):c.11962A>G (p.T3988A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90759430A>G" "" "VUS" "" "0000526413" "0" "30" "5" "90059182" "90059182" "subst" "0.000728187" "01943" "GPR98_010292" "g.90059182G>T" "" "" "" "ADGRV1(NM_032119.4):c.12181G>T (p.V4061F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90763365G>T" "" "likely benign" "" "0000526415" "0" "30" "5" "90059270" "90059270" "subst" "0.00284507" "02325" "GPR98_000243" "g.90059270C>A" "" "" "" "ADGRV1(NM_032119.4):c.12269C>A (p.T4090N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90763453C>A" "" "likely benign" "" "0000526416" "0" "50" "5" "90059270" "90059270" "subst" "0.00284507" "01943" "GPR98_000243" "g.90059270C>A" "" "" "" "ADGRV1(NM_032119.4):c.12269C>A (p.T4090N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90763453C>A" "" "VUS" "" "0000526418" "0" "30" "5" "90059270" "90059270" "subst" "0.00284507" "02326" "GPR98_000243" "g.90059270C>A" "" "" "" "ADGRV1(NM_032119.4):c.12269C>A (p.T4090N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90763453C>A" "" "likely benign" "" "0000526419" "0" "30" "5" "90069893" "90069893" "dup" "0" "02326" "GPR98_010553" "g.90069893dup" "" "" "" "ADGRV1(NM_032119.4):c.12286-110dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90774076dup" "" "likely benign" "" "0000526420" "0" "30" "5" "90069894" "90069894" "subst" "0" "02326" "GPR98_010554" "g.90069894G>C" "" "" "" "ADGRV1(NM_032119.4):c.12286-109G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90774077G>C" "" "likely benign" "" "0000526421" "0" "50" "5" "90070096" "90070096" "subst" "2.85616E-5" "02325" "GPR98_010297" "g.90070096G>A" "" "" "" "ADGRV1(NM_032119.4):c.12379G>A (p.E4127K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90774279G>A" "" "VUS" "" "0000526422" "0" "50" "5" "90072305" "90072305" "subst" "0" "02325" "GPR98_010555" "g.90072305G>C" "" "" "" "ADGRV1(NM_032119.4):c.12439G>C (p.A4147P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90776488G>C" "" "VUS" "" "0000526423" "0" "50" "5" "90072342" "90072342" "subst" "0.000760336" "02330" "GPR98_010302" "g.90072342A>C" "" "" "" "ADGRV1(NM_032119.4):c.12476A>C (p.H4159P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90776525A>C" "" "VUS" "" "0000526424" "0" "30" "5" "90072361" "90072361" "subst" "0" "01943" "GPR98_010556" "g.90072361C>A" "" "" "" "ADGRV1(NM_032119.4):c.12495C>A (p.P4165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90776544C>A" "" "likely benign" "" "0000526425" "0" "10" "5" "90072400" "90072400" "subst" "0" "02330" "GPR98_010557" "g.90072400A>G" "" "" "" "ADGRV1(NM_032119.4):c.12527+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90776583A>G" "" "benign" "" "0000526426" "0" "30" "5" "90073961" "90073962" "dup" "0" "02326" "GPR98_010558" "g.90073961_90073962dup" "" "" "" "ADGRV1(NM_032119.4):c.12666+101_12666+102dupTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90778144_90778145dup" "" "likely benign" "" "0000526427" "0" "50" "5" "90074743" "90074743" "subst" "2.44141E-5" "01804" "GPR98_010559" "g.90074743C>T" "" "" "" "GPR98(NM_032119.3):c.12911C>T (p.(Thr4304Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90778926C>T" "" "VUS" "" "0000526428" "0" "10" "5" "90074869" "90074869" "subst" "0.00187455" "02330" "GPR98_010316" "g.90074869C>T" "" "" "" "ADGRV1(NM_032119.4):c.13037C>T (p.P4346L), GPR98(NM_032119.3):c.13037C>T (p.(Pro4346Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90779052C>T" "" "benign" "" "0000526429" "0" "10" "5" "90074869" "90074869" "subst" "0.00187455" "01943" "GPR98_010316" "g.90074869C>T" "" "" "" "ADGRV1(NM_032119.4):c.13037C>T (p.P4346L), GPR98(NM_032119.3):c.13037C>T (p.(Pro4346Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90779052C>T" "" "benign" "" "0000526430" "0" "30" "5" "90077317" "90077317" "subst" "0.000152707" "01943" "GPR98_010560" "g.90077317A>G" "" "" "" "ADGRV1(NM_032119.4):c.13153A>G (p.I4385V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90781500A>G" "" "likely benign" "" "0000526431" "0" "50" "5" "90077345" "90077345" "subst" "8.20951E-6" "01943" "GPR98_010561" "g.90077345A>G" "" "" "" "ADGRV1(NM_032119.4):c.13181A>G (p.D4394G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90781528A>G" "" "VUS" "" "0000526432" "0" "30" "5" "90078951" "90078951" "subst" "4.06822E-6" "01943" "GPR98_010562" "g.90078951T>C" "" "" "" "ADGRV1(NM_032119.4):c.13242T>C (p.D4414=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90783134T>C" "" "likely benign" "" "0000526433" "0" "30" "5" "90079681" "90079681" "subst" "2.50924E-5" "01943" "GPR98_010564" "g.90079681T>A" "" "" "" "ADGRV1(NM_032119.4):c.13460T>A (p.L4487Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90783864T>A" "" "likely benign" "" "0000526434" "0" "50" "5" "90079717" "90079717" "subst" "0.000103037" "01943" "GPR98_010424" "g.90079717G>A" "" "" "" "ADGRV1(NM_032119.4):c.13496G>A (p.R4499H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90783900G>A" "" "VUS" "" "0000526435" "0" "10" "5" "90083881" "90083881" "subst" "0.000122286" "02330" "GPR98_010565" "g.90083881C>T" "" "" "" "ADGRV1(NM_032119.4):c.13654-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90788064C>T" "" "benign" "" "0000526436" "0" "10" "5" "90083883" "90083883" "subst" "0.00213959" "01943" "GPR98_010566" "g.90083883C>T" "" "" "" "ADGRV1(NM_032119.4):c.13654-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90788066C>T" "" "benign" "" "0000526437" "0" "30" "5" "90084006" "90084006" "subst" "5.69592E-5" "01943" "GPR98_010567" "g.90084006C>T" "" "" "" "ADGRV1(NM_032119.4):c.13772C>T (p.T4591I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90788189C>T" "" "likely benign" "" "0000526439" "0" "50" "5" "90085558" "90085558" "subst" "0" "02327" "GPR98_010427" "g.90085558G>A" "" "" "" "ADGRV1(NM_032119.4):c.13933G>A (p.A4645T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90789741G>A" "" "VUS" "" "0000526440" "0" "50" "5" "90086963" "90086963" "subst" "8.13233E-6" "01943" "GPR98_010569" "g.90086963A>G" "" "" "" "ADGRV1(NM_032119.4):c.14317A>G (p.I4773V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90791146A>G" "" "VUS" "" "0000526441" "0" "30" "5" "90087019" "90087019" "subst" "0.00014244" "02330" "GPR98_010435" "g.90087019T>A" "" "" "" "ADGRV1(NM_032119.4):c.14373T>A (p.A4791=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90791202T>A" "" "likely benign" "" "0000526442" "0" "10" "5" "90087161" "90087161" "subst" "0.00334468" "01943" "GPR98_010570" "g.90087161C>G" "" "" "" "ADGRV1(NM_032119.4):c.14515C>G (p.Q4839E, p.(Gln4839Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90791344C>G" "" "benign" "" "0000526443" "0" "30" "5" "90087289" "90087289" "subst" "0" "02326" "GPR98_010571" "g.90087289C>T" "" "" "" "ADGRV1(NM_032119.4):c.14517+126C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90791472C>T" "" "likely benign" "" "0000526444" "0" "10" "5" "90101294" "90101294" "subst" "7.89931E-5" "02330" "GPR98_010572" "g.90101294A>G" "" "" "" "ADGRV1(NM_032119.4):c.14836+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90805477A>G" "" "benign" "" "0000526446" "0" "10" "5" "90103525" "90103525" "subst" "0.000438865" "02330" "GPR98_010574" "g.90103525G>C" "" "" "" "ADGRV1(NM_032119.4):c.14943G>C (p.Q4981H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90807708G>C" "" "benign" "" "0000526447" "0" "30" "5" "90103525" "90103525" "subst" "0.000438865" "02326" "GPR98_010574" "g.90103525G>C" "" "" "" "ADGRV1(NM_032119.4):c.14943G>C (p.Q4981H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90807708G>C" "" "likely benign" "" "0000526448" "0" "50" "5" "90106175" "90106175" "subst" "8.15175E-6" "02330" "GPR98_010575" "g.90106175T>C" "" "" "" "ADGRV1(NM_032119.4):c.15098T>C (p.F5033S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90810358T>C" "" "VUS" "" "0000526449" "0" "50" "5" "90106246" "90106246" "subst" "0.000573553" "01943" "GPR98_010443" "g.90106246C>T" "" "" "" "ADGRV1(NM_032119.4):c.15169C>T (p.P5057S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90810429C>T" "" "VUS" "" "0000526450" "0" "30" "5" "90106575" "90106575" "subst" "2.43686E-5" "01943" "GPR98_010576" "g.90106575G>A" "" "" "" "ADGRV1(NM_032119.4):c.15498G>A (p.T5166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90810758G>A" "" "likely benign" "" "0000526451" "0" "30" "5" "90119124" "90119124" "dup" "0" "02326" "GPR98_010577" "g.90119124dup" "" "" "" "ADGRV1(NM_032119.4):c.16197-118dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90823307dup" "" "likely benign" "" "0000526452" "0" "30" "5" "90119297" "90119297" "subst" "2.4374E-5" "01943" "GPR98_010578" "g.90119297G>A" "" "" "" "ADGRV1(NM_032119.4):c.16252G>A (p.V5418M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90823480G>A" "" "likely benign" "" "0000526453" "0" "30" "5" "90119358" "90119358" "subst" "6.09315E-5" "01943" "GPR98_010348" "g.90119358C>T" "" "" "" "ADGRV1(NM_032119.4):c.16313C>T (p.T5438I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90823541C>T" "" "likely benign" "" "0000526454" "0" "30" "5" "90124769" "90124769" "subst" "0.000964112" "01943" "GPR98_000013" "g.90124769G>T" "" "" "" "ADGRV1(NM_032119.4):c.16377G>T (p.Q5459H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90828952G>T" "" "likely benign" "" "0000526455" "0" "30" "5" "90136482" "90136482" "subst" "5.688E-5" "02330" "GPR98_010355" "g.90136482G>A" "" "" "" "ADGRV1(NM_032119.4):c.16699G>A (p.V5567I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90840665G>A" "" "likely benign" "" "0000526456" "0" "50" "5" "90136718" "90136718" "subst" "0" "01943" "GPR98_010579" "g.90136718C>G" "" "" "" "ADGRV1(NM_032119.4):c.16935C>G (p.N5645K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90840901C>G" "" "VUS" "" "0000526457" "0" "30" "5" "90144621" "90144621" "subst" "7.39242E-5" "02330" "GPR98_010580" "g.90144621C>T" "" "" "" "ADGRV1(NM_032119.4):c.17187C>T (p.C5729=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90848804C>T" "" "likely benign" "" "0000526458" "0" "50" "5" "90144622" "90144622" "subst" "9.22875E-6" "01943" "GPR98_010581" "g.90144622G>A" "" "" "" "ADGRV1(NM_032119.4):c.17188G>A (p.G5730S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90848805G>A" "" "VUS" "" "0000526459" "0" "50" "5" "90281206" "90281206" "subst" "1.62734E-5" "01943" "GPR98_010582" "g.90281206G>A" "" "" "" "ADGRV1(NM_032119.4):c.18019G>A (p.E6007K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90985389G>A" "" "VUS" "" "0000526460" "0" "50" "5" "90281208" "90281208" "subst" "4.06835E-6" "02327" "GPR98_010583" "g.90281208G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90985391G>C" "" "VUS" "" "0000526461" "0" "10" "5" "90398027" "90398027" "del" "0" "02326" "GPR98_010584" "g.90398027del" "" "" "" "ADGRV1(NM_032119.4):c.18311-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91102210del" "" "benign" "" "0000526463" "0" "10" "5" "90445830" "90445831" "ins" "0" "02325" "GPR98_000258" "g.90445830_90445831insCT" "" "" "" "ADGRV1(NM_032119.4):c.18433-17_18433-16insCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91150013_91150014insCT" "" "benign" "" "0000526464" "0" "30" "5" "90445830" "90445831" "ins" "0" "02326" "GPR98_000258" "g.90445830_90445831insCT" "" "" "" "ADGRV1(NM_032119.4):c.18433-17_18433-16insCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91150013_91150014insCT" "" "likely benign" "" "0000526465" "0" "10" "5" "90445830" "90445831" "ins" "0" "02330" "GPR98_010586" "g.90445830_90445831insCTT" "" "" "" "ADGRV1(NM_032119.4):c.18433-17_18433-16insCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91150013_91150014insCTT" "" "benign" "" "0000526466" "0" "10" "5" "90445842" "90445842" "dup" "0" "02330" "GPR98_010587" "g.90445842dup" "" "" "" "ADGRV1(NM_032119.4):c.18433-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91150025dup" "" "benign" "" "0000526467" "0" "30" "5" "90445884" "90445884" "subst" "0.00159775" "01943" "GPR98_010460" "g.90445884A>G" "" "" "" "ADGRV1(NM_032119.4):c.18470A>G (p.N6157S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91150067A>G" "" "likely benign" "" "0000526468" "0" "30" "5" "90445958" "90445958" "subst" "0" "02326" "GPR98_010588" "g.90445958T>A" "" "" "" "ADGRV1(NM_032119.4):c.18544T>A (p.F6182I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91150141T>A" "" "likely benign" "" "0000526469" "0" "50" "5" "90449107" "90449107" "subst" "4.17272E-6" "02330" "GPR98_010589" "g.90449107C>G" "" "" "" "ADGRV1(NM_032119.4):c.18694C>G (p.P6232A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91153290C>G" "" "VUS" "" "0000526470" "0" "90" "5" "90449149" "90449149" "subst" "0" "01943" "GPR98_010590" "g.90449149C>T" "" "" "" "ADGRV1(NM_032119.4):c.18736C>T (p.Q6246*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91153332C>T" "" "pathogenic" "" "0000526471" "0" "30" "5" "90449159" "90449159" "subst" "0.00153789" "02330" "GPR98_000113" "g.90449159T>G" "" "" "" "ADGRV1(NM_032119.4):c.18746T>G (p.L6249R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91153342T>G" "" "likely benign" "" "0000526472" "0" "50" "5" "90459647" "90459647" "subst" "0" "02327" "GPR98_010591" "g.90459647A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91163830A>G" "" "VUS" "" "0000526473" "0" "30" "5" "90459675" "90459675" "subst" "0.000158182" "02330" "GPR98_010389" "g.90459675C>T" "" "" "" "ADGRV1(NM_032119.4):c.18879C>T (p.I6293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91163858C>T" "" "likely benign" "" "0000526474" "0" "30" "5" "90459705" "90459705" "subst" "0" "01943" "GPR98_010592" "g.90459705C>T" "" "" "" "ADGRV1(NM_032119.4):c.18909C>T (p.D6303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91163888C>T" "" "likely benign" "" "0000609828" "0" "30" "5" "89913690" "89913690" "subst" "0" "01804" "GPR98_010593" "g.89913690A>G" "" "" "" "GPR98(NM_032119.3):c.277A>G (p.(Asn93Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90617873A>G" "" "likely benign" "" "0000609829" "0" "30" "5" "89923388" "89923388" "subst" "0.000869806" "01943" "GPR98_010034" "g.89923388C>A" "" "" "" "ADGRV1(NM_032119.4):c.1033C>A (p.Q345K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90627571C>A" "" "likely benign" "" "0000609830" "0" "50" "5" "89930940" "89930940" "subst" "0.000284262" "02327" "GPR98_000045" "g.89930940G>A" "" "" "" "ADGRV1(NM_032119.4):c.1849G>A (p.V617M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90635123G>A" "" "VUS" "" "0000609831" "0" "50" "5" "89933758" "89933758" "subst" "1.62852E-5" "01943" "GPR98_010594" "g.89933758C>G" "" "" "" "ADGRV1(NM_032119.4):c.2233C>G (p.L745V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90637941C>G" "" "VUS" "" "0000609832" "0" "10" "5" "89938434" "89938434" "subst" "0.187379" "02327" "GPR98_000186" "g.89938434G>T" "" "" "" "ADGRV1(NM_032119.4):c.2241-19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90642617G>T" "" "benign" "" "0000609833" "0" "10" "5" "89938587" "89938587" "subst" "0.732367" "02327" "GPR98_000155" "g.89938587C>T" "" "" "" "ADGRV1(NM_032119.4):c.2367+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90642770C>T" "" "benign" "" "0000609834" "0" "10" "5" "89943433" "89943433" "subst" "0.164856" "02327" "GPR98_000190" "g.89943433A>G" "" "" "" "ADGRV1(NM_032119.4):c.3141A>G (p.A1047=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90647616A>G" "" "benign" "" "0000609835" "0" "10" "5" "89943571" "89943571" "subst" "0.711032" "02327" "GPR98_000156" "g.89943571G>T" "" "" "" "ADGRV1(NM_032119.4):c.3279G>T (p.L1093F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90647754G>T" "" "benign" "" "0000609836" "0" "30" "5" "89949171" "89949171" "subst" "1.62542E-5" "01943" "GPR98_010088" "g.89949171A>G" "" "" "" "ADGRV1(NM_032119.4):c.3780A>G (p.E1260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90653354A>G" "" "likely benign" "" "0000609837" "0" "30" "5" "89949764" "89949764" "subst" "2.5504E-5" "01943" "GPR98_010498" "g.89949764C>G" "" "" "" "ADGRV1(NM_032119.4):c.4373C>G (p.T1458S, p.(Thr1458Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90653947C>G" "" "likely benign" "" "0000609838" "0" "30" "5" "89979630" "89979630" "subst" "0.000126231" "01943" "GPR98_010598" "g.89979630T>C" "" "" "" "ADGRV1(NM_032119.4):c.5892T>C (p.N1964=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90683813T>C" "" "likely benign" "" "0000609839" "0" "90" "5" "89979682" "89979682" "dup" "0" "01943" "GPR98_010599" "g.89979682dup" "" "" "" "ADGRV1(NM_032119.4):c.5944dupT (p.S1982Ffs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90683865dup" "" "pathogenic" "" "0000609840" "0" "10" "5" "89979750" "89979750" "subst" "0.197842" "02327" "GPR98_000141" "g.89979750G>T" "" "" "" "ADGRV1(NM_032119.4):c.6012G>T (p.L2004F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90683933G>T" "" "benign" "" "0000609841" "0" "50" "5" "89979967" "89979967" "subst" "5.75227E-5" "01943" "GPR98_000246" "g.89979967G>A" "" "" "" "ADGRV1(NM_032119.4):c.6229G>A (p.E2077K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90684150G>A" "" "VUS" "" "0000609842" "0" "50" "5" "89985749" "89985749" "subst" "0" "01943" "GPR98_010600" "g.89985749T>C" "" "" "" "ADGRV1(NM_032119.4):c.6562T>C (p.Y2188H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90689932T>C" "" "VUS" "" "0000609843" "0" "50" "5" "89985774" "89985774" "subst" "0" "01804" "GPR98_010601" "g.89985774A>G" "" "" "" "GPR98(NM_032119.3):c.6587A>G (p.(Glu2196Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90689957A>G" "" "VUS" "" "0000609844" "0" "50" "5" "89988464" "89988464" "subst" "0.000276204" "02327" "GPR98_000046" "g.89988464A>T" "" "" "" "ADGRV1(NM_032119.4):c.6994A>T (p.I2332F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90692647A>T" "" "VUS" "" "0000609845" "0" "50" "5" "89988494" "89988496" "dup" "0" "01943" "GPR98_010602" "g.89988494_89988496dup" "" "" "" "ADGRV1(NM_032119.4):c.7024_7026dupATT (p.I2342dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90692677_90692679dup" "" "VUS" "" "0000609846" "0" "30" "5" "89989802" "89989802" "subst" "0.00498833" "01804" "GPR98_000151" "g.89989802A>G" "" "" "" "ADGRV1(NM_032119.4):c.7229A>G (p.Y2410C), GPR98(NM_032119.3):c.7229A>G (p.(Tyr2410Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90693985A>G" "" "likely benign" "" "0000609847" "0" "30" "5" "89990149" "89990149" "subst" "0.00479288" "01804" "GPR98_000152" "g.89990149A>G" "" "" "" "ADGRV1(NM_032119.4):c.7576A>G (p.(Ile2526Val), p.I2526V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90694332A>G" "" "likely benign" "" "0000609848" "0" "10" "5" "90000210" "90000210" "subst" "0.0619964" "02327" "GPR98_000259" "g.90000210C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90704393C>T" "" "benign" "" "0000609849" "0" "10" "5" "90001368" "90001368" "subst" "0.179303" "02327" "GPR98_000194" "g.90001368T>G" "" "" "" "ADGRV1(NM_032119.4):c.8538T>G (p.L2846=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90705551T>G" "" "benign" "" "0000609850" "0" "30" "5" "90002220" "90002221" "del" "0" "01804" "GPR98_010603" "g.90002220_90002221del" "" "" "" "GPR98(NM_032119.3):c.8730+9_8730+10del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90706403_90706404del" "" "likely benign" "" "0000609851" "0" "10" "5" "90016871" "90016871" "subst" "0.165563" "02327" "GPR98_000092" "g.90016871G>A" "" "" "" "ADGRV1(NM_032119.4):c.9743G>A (p.G3248D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90721054G>A" "" "benign" "" "0000609852" "0" "30" "5" "90040988" "90040988" "subst" "0" "01804" "GPR98_010604" "g.90040988C>T" "" "" "" "GPR98(NM_032119.3):c.10675C>T (p.(Leu3559Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90745171C>T" "" "likely benign" "" "0000609853" "0" "50" "5" "90049491" "90049491" "subst" "3.66139E-5" "01943" "GPR98_010605" "g.90049491G>A" "" "" "" "ADGRV1(NM_032119.4):c.11222G>A (p.R3741H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90753674G>A" "" "VUS" "" "0000609854" "0" "30" "5" "90050990" "90050990" "subst" "0.000516397" "01943" "GPR98_010276" "g.90050990T>C" "" "" "" "ADGRV1(NM_032119.4):c.11568T>C (p.V3856=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90755173T>C" "" "likely benign" "" "0000609855" "0" "30" "5" "90059172" "90059172" "subst" "0" "01943" "GPR98_010606" "g.90059172A>G" "" "" "" "ADGRV1(NM_032119.4):c.12171A>G (p.T4057=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90763355A>G" "" "likely benign" "" "0000609856" "0" "50" "5" "90074281" "90074281" "subst" "0.000159354" "01943" "GPR98_010607" "g.90074281A>G" "" "" "" "ADGRV1(NM_032119.4):c.12704A>G (p.Y4235C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90778464A>G" "" "VUS" "" "0000609857" "0" "30" "5" "90079020" "90079020" "subst" "0" "01943" "GPR98_010608" "g.90079020C>T" "" "" "" "ADGRV1(NM_032119.4):c.13311C>T (p.I4437=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90783203C>T" "" "likely benign" "" "0000609858" "0" "30" "5" "90106776" "90106776" "subst" "4.06808E-6" "01943" "GPR98_010338" "g.90106776G>C" "" "" "" "ADGRV1(NM_032119.4):c.15699G>C (p.M5233I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90810959G>C" "" "likely benign" "" "0000609859" "0" "10" "5" "90107108" "90107108" "subst" "0.969653" "02327" "GPR98_000180" "g.90107108A>G" "" "" "" "ADGRV1(NM_032119.4):c.16031A>G (p.E5344G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90811291A>G" "" "benign" "" "0000609860" "0" "10" "5" "90119324" "90119324" "subst" "0.99305" "02327" "GPR98_000181" "g.90119324G>A" "" "" "" "ADGRV1(NM_032119.4):c.16279G>A (p.V5427M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90823507G>A" "" "benign" "" "0000609861" "0" "50" "5" "90124873" "90124873" "subst" "2.0326E-5" "01943" "GPR98_010610" "g.90124873C>G" "" "" "" "ADGRV1(NM_032119.4):c.16481C>G (p.S5494C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90829056C>G" "" "VUS" "" "0000609862" "0" "50" "5" "90151631" "90151631" "subst" "8.15554E-6" "01943" "GPR98_010611" "g.90151631A>G" "" "" "" "ADGRV1(NM_032119.4):c.17668A>G (p.M5890V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90855814A>G" "" "VUS" "" "0000609863" "0" "30" "5" "90261267" "90261267" "subst" "0" "01943" "GPR98_010612" "g.90261267A>G" "" "" "" "ADGRV1(NM_032119.4):c.17892A>G (p.Q5964=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90965450A>G" "" "likely benign" "" "0000609864" "0" "50" "5" "90368287" "90368287" "subst" "0" "01943" "GPR98_010613" "g.90368287C>T" "" "" "" "ADGRV1(NM_032119.4):c.18176C>T (p.A6059V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91072470C>T" "" "VUS" "" "0000609865" "0" "30" "5" "90445889" "90445889" "subst" "0.0266873" "01804" "GPR98_010461" "g.90445889A>G" "" "" "" "ADGRV1(NM_032119.4):c.18475A>G (p.M6159V), GPR98(NM_032119.3):c.18475A>G (p.(Met6159Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91150072A>G" "" "likely benign" "" "0000609866" "0" "50" "5" "90449159" "90449159" "subst" "0.00153789" "01943" "GPR98_000113" "g.90449159T>G" "" "" "" "ADGRV1(NM_032119.4):c.18746T>G (p.L6249R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91153342T>G" "" "VUS" "" "0000609867" "0" "70" "5" "90459627" "90459630" "dup" "0" "02327" "GPR98_010614" "g.90459627_90459630dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91163810_91163813dup" "" "likely pathogenic" "" "0000621598" "0" "50" "5" "89947429" "89947429" "subst" "3.30918E-5" "01943" "GPR98_010595" "g.89947429G>A" "" "" "" "ADGRV1(NM_032119.4):c.3298G>A (p.V1100I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90651612G>A" "" "VUS" "" "0000621599" "0" "50" "5" "89949740" "89949740" "subst" "0.0001231" "01943" "GPR98_010596" "g.89949740A>G" "" "" "" "ADGRV1(NM_032119.4):c.4349A>G (p.K1450R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90653923A>G" "" "VUS" "" "0000621600" "0" "50" "5" "89954009" "89954009" "subst" "0.000645707" "01943" "GPR98_010100" "g.89954009G>A" "" "" "" "ADGRV1(NM_032119.4):c.4666G>A (p.E1556K, p.(Glu1556Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90658192G>A" "" "VUS" "" "0000621601" "0" "30" "5" "89977227" "89977227" "subst" "0.000211913" "01943" "GPR98_010597" "g.89977227A>G" "" "" "" "ADGRV1(NM_032119.4):c.5620A>G (p.S1874G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90681410A>G" "" "likely benign" "" "0000621602" "0" "30" "5" "90087073" "90087073" "subst" "0" "01943" "GPR98_010609" "g.90087073A>G" "" "" "" "ADGRV1(NM_032119.4):c.14427A>G (p.E4809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90791256A>G" "" "likely benign" "" "0000621603" "0" "30" "5" "90101200" "90101200" "subst" "0.000504131" "01943" "GPR98_010440" "g.90101200G>A" "" "" "" "ADGRV1(NM_032119.4):c.14761G>A (p.A4921T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90805383G>A" "" "likely benign" "" "0000621604" "0" "90" "5" "90149282" "90149282" "subst" "0" "02330" "GPR98_000257" "g.90149282C>T" "" "" "" "ADGRV1(NM_032119.4):c.17386C>T (p.Q5796*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90853465C>T" "" "pathogenic" "" "0000632318" "3" "30" "5" "90449159" "90449159" "subst" "0.00153789" "00006" "GPR98_000113" "g.90449159T>G" "" "{PMID:Gariballa 2017:28322503}" "" "" "" "Germline" "" "rs41311625" "0" "" "" "g.91153342T>G" "" "likely benign" "" "0000651780" "1" "10" "5" "89914925" "89914925" "subst" "0.0307774" "03575" "GPR98_000090" "g.89914925T>G" "37/2788 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "37 heterozygous, no homozygous; {DB:CLININrs41311333}" "Germline" "" "rs41311333" "0" "" "" "g.90619108T>G" "" "benign" "" "0000651781" "1" "30" "5" "89925039" "89925039" "subst" "0.00218957" "03575" "GPR98_010040" "g.89925039A>C" "5/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs61744480}" "Germline" "" "rs61744480" "0" "" "" "g.90629222A>C" "" "likely benign" "" "0000651782" "1" "10" "5" "89925169" "89925169" "subst" "0.00397509" "03575" "GPR98_010042" "g.89925169T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs6889939}" "Germline" "" "rs6889939" "0" "" "" "g.90629352T>C" "" "benign" "" "0000651783" "1" "50" "5" "89939662" "89939662" "subst" "0.000351868" "03575" "GPR98_010615" "g.89939662C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs200389929}" "Germline" "" "rs200389929" "0" "" "" "g.90643845C>T" "" "VUS" "" "0000651784" "1" "10" "5" "89943581" "89943581" "subst" "0.00527016" "03575" "GPR98_000093" "g.89943581G>A" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs148097083}" "Germline" "" "rs148097083" "0" "" "" "g.90647764G>A" "" "benign" "" "0000651785" "1" "50" "5" "89948189" "89948189" "subst" "0.00183801" "03575" "GPR98_000284" "g.89948189G>A" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs200945405}" "Germline" "" "rs200945405" "0" "" "" "g.90652372G>A" "" "VUS" "" "0000651786" "1" "50" "5" "89949605" "89949605" "subst" "0.00115148" "03575" "GPR98_000120" "g.89949605C>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; {DB:CLININrs41305898}" "Germline" "" "rs41305898" "0" "" "" "g.90653788C>T" "" "VUS" "" "0000651787" "1" "50" "5" "89979871" "89979871" "subst" "0.00433146" "03575" "GPR98_010134" "g.89979871G>A" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 8 heterozygous, no homozygous; {DB:CLININrs41308846}" "Germline" "" "rs41308846" "0" "" "" "g.90684054G>A" "" "VUS" "" "0000651788" "1" "10" "5" "89981611" "89981611" "subst" "0.018162" "03575" "GPR98_000099" "g.89981611C>T" "54/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "54 heterozygous, no homozygous; {DB:CLININrs16868974}" "Germline" "" "rs16868974" "0" "" "" "g.90685794C>T" "" "benign" "" "0000651789" "1" "30" "5" "89985795" "89985795" "subst" "0.00257259" "03575" "GPR98_000031" "g.89985795T>C" "37/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "37 heterozygous, no homozygous; {DB:CLININrs200055351}" "Germline" "" "rs200055351" "0" "" "" "g.90689978T>C" "" "likely benign" "" "0000651790" "1" "30" "5" "90001237" "90001237" "subst" "0.0107832" "03575" "GPR98_000244" "g.90001237G>A" "25/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "25 heterozygous, no homozygous; {DB:CLININrs111033530}" "Germline" "" "rs111033530" "0" "" "" "g.90705420G>A" "" "likely benign" "" "0000651791" "1" "10" "5" "90041510" "90041510" "subst" "0.0311764" "03575" "GPR98_000234" "g.90041510A>G" "71/2788 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "71 heterozygous; {DB:CLININrs17624033}" "Germline" "" "rs17624033" "0" "" "" "g.90745693A>G" "" "benign" "" "0000651792" "1" "50" "5" "90070066" "90070066" "subst" "0.000281226" "03575" "GPR98_010296" "g.90070066C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs138908576}" "Germline" "" "rs138908576" "0" "" "" "g.90774249C>T" "" "VUS" "" "0000651793" "1" "50" "5" "90074281" "90074281" "subst" "0.000159354" "03575" "GPR98_010607" "g.90074281A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs200644004}" "Germline" "" "rs200644004" "0" "" "" "g.90778464A>G" "" "VUS" "" "0000651794" "1" "50" "5" "90106246" "90106246" "subst" "0.000573553" "03575" "GPR98_010443" "g.90106246C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs183633457}" "Germline" "" "rs183633457" "0" "" "" "g.90810429C>T" "" "VUS" "" "0000651795" "1" "10" "5" "90111521" "90111521" "subst" "0.0169905" "03575" "GPR98_000029" "g.90111521A>G" "190/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "190 heterozygous; {DB:CLININrs41304884}" "Germline" "" "rs41304884" "0" "" "" "g.90815704A>G" "" "benign" "" "0000653066" "1" "30" "5" "89979568" "89979568" "subst" "0.00428387" "03575" "GPR98_000022" "g.89979568G>A" "6/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs41302834}" "Germline" "" "rs41302834" "0" "" "" "g.90683751G>A" "" "likely benign" "" "0000655425" "0" "10" "5" "89923101" "89923101" "subst" "0.00638071" "02330" "GPR98_010032" "g.89923101G>A" "" "" "" "ADGRV1(NM_032119.4):c.746G>A (p.R249K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90627284G>A" "" "benign" "" "0000655426" "0" "50" "5" "89939719" "89939721" "del" "0" "01943" "GPR98_010616" "g.89939719_89939721del" "" "" "" "ADGRV1(NM_032119.4):c.2653_2655delGAT (p.D885del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90643902_90643904del" "" "VUS" "" "0000655427" "0" "50" "5" "89990041" "89990041" "subst" "0.000260243" "01943" "GPR98_010617" "g.89990041G>A" "" "" "" "ADGRV1(NM_032119.4):c.7468G>A (p.A2490T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90694224G>A" "" "VUS" "" "0000655428" "0" "30" "5" "90004736" "90004736" "subst" "0.000535779" "01943" "GPR98_010200" "g.90004736G>A" "" "" "" "ADGRV1(NM_032119.4):c.8824+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90708919G>A" "" "likely benign" "" "0000655429" "0" "50" "5" "90055259" "90055259" "subst" "0.00147297" "01943" "GPR98_000285" "g.90055259G>A" "" "" "" "ADGRV1(NM_032119.4):c.11974G>A (p.D3992N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90759442G>A" "" "VUS" "" "0000655430" "0" "30" "5" "90074821" "90074821" "subst" "0.000606594" "01943" "GPR98_010618" "g.90074821G>A" "" "" "" "ADGRV1(NM_032119.4):c.12989G>A (p.R4330K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90779004G>A" "" "likely benign" "" "0000655431" "0" "30" "5" "90079781" "90079781" "subst" "4.11536E-6" "01943" "GPR98_010619" "g.90079781C>T" "" "" "" "ADGRV1(NM_032119.4):c.13560C>T (p.L4520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90783964C>T" "" "likely benign" "" "0000655432" "0" "30" "5" "90106775" "90106775" "subst" "2.44055E-5" "01943" "GPR98_010620" "g.90106775T>C" "" "" "" "ADGRV1(NM_032119.4):c.15698T>C (p.M5233T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90810958T>C" "" "likely benign" "" "0000655433" "0" "30" "5" "90144489" "90144489" "subst" "0" "01943" "GPR98_010621" "g.90144489T>G" "" "" "" "ADGRV1(NM_032119.4):c.17055T>G (p.V5685=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90848672T>G" "" "likely benign" "" "0000655434" "0" "90" "5" "90368422" "90368422" "subst" "0" "02327" "GPR98_010622" "g.90368422G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91072605G>A" "" "pathogenic" "" "0000663569" "1" "50" "5" "89938500" "89938500" "subst" "8.12995E-6" "00006" "GPR98_010623" "g.89938500A>G" "" "{PMID:Arno 2017:28132693}" "" "" "heterozygous variant only, does not fit phenotype" "Germline" "" "" "0" "" "" "g.90642683A>G" "" "VUS" "" "0000669862" "3" "10" "5" "90041510" "90041510" "subst" "0.0311764" "03575" "GPR98_000234" "g.90041510A>G" "1/2788 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs17624033}" "Germline" "" "rs17624033" "0" "" "" "g.90745693A>G" "" "benign" "" "0000669863" "3" "10" "5" "90111521" "90111521" "subst" "0.0169905" "03575" "GPR98_000029" "g.90111521A>G" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs41304884}" "Germline" "" "rs41304884" "0" "" "" "g.90815704A>G" "" "benign" "" "0000677562" "0" "30" "5" "89947426" "89947426" "subst" "0.000596724" "01943" "GPR98_010082" "g.89947426A>G" "" "" "" "ADGRV1(NM_032119.4):c.3295A>G (p.T1099A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677563" "0" "50" "5" "89953772" "89953772" "subst" "0.000178968" "02330" "GPR98_010499" "g.89953772A>G" "" "" "" "ADGRV1(NM_032119.4):c.4429A>G (p.T1477A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677564" "0" "50" "5" "89968396" "89968396" "subst" "2.84534E-5" "01943" "GPR98_010624" "g.89968396G>A" "" "" "" "ADGRV1(NM_032119.4):c.4786G>A (p.V1596I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677565" "0" "30" "5" "89989857" "89989857" "subst" "0.000610426" "01943" "GPR98_010625" "g.89989857T>C" "" "" "" "ADGRV1(NM_032119.4):c.7284T>C (p.N2428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677566" "0" "30" "5" "90052843" "90052843" "subst" "0.00041095" "01943" "GPR98_010626" "g.90052843C>T" "" "" "" "ADGRV1(NM_032119.4):c.11805C>T (p.N3935=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677567" "0" "30" "5" "90059236" "90059236" "subst" "4.47038E-5" "01943" "GPR98_010627" "g.90059236A>G" "" "" "" "ADGRV1(NM_032119.4):c.12235A>G (p.K4079E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677568" "0" "50" "5" "90074281" "90074281" "subst" "0.000159354" "02330" "GPR98_010607" "g.90074281A>G" "" "" "" "ADGRV1(NM_032119.4):c.12704A>G (p.Y4235C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677569" "0" "30" "5" "90079770" "90079770" "subst" "1.64479E-5" "01943" "GPR98_010628" "g.90079770A>G" "" "" "" "ADGRV1(NM_032119.4):c.13549A>G (p.I4517V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677570" "0" "30" "5" "90079836" "90079836" "subst" "0" "01943" "GPR98_010629" "g.90079836G>C" "" "" "" "ADGRV1(NM_032119.4):c.13615G>C (p.V4539L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677571" "0" "30" "5" "90086869" "90086869" "subst" "0.000406729" "01943" "GPR98_010630" "g.90086869C>T" "" "" "" "ADGRV1(NM_032119.4):c.14223C>T (p.A4741=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677572" "0" "30" "5" "90101130" "90101130" "subst" "0" "01943" "GPR98_010332" "g.90101130C>T" "" "" "" "ADGRV1(NM_032119.4):c.14691C>T (p.L4897=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677573" "0" "30" "5" "90106746" "90106746" "subst" "0.000374057" "01943" "GPR98_010631" "g.90106746G>A" "" "" "" "ADGRV1(NM_032119.4):c.15669G>A (p.G5223=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677574" "0" "30" "5" "90106863" "90106863" "subst" "0.000378532" "01943" "GPR98_010632" "g.90106863C>T" "" "" "" "ADGRV1(NM_032119.4):c.15786C>T (p.F5262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684487" "1" "70" "5" "89914921" "89914921" "subst" "0" "00004" "GPR98_010633" "g.89914921A>T" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.90619104A>T" "" "likely pathogenic" "" "0000684488" "1" "70" "5" "90106674" "90106674" "del" "0" "00004" "GPR98_010642" "g.90106674del" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "c.15597delT" "" "Germline" "" "" "0" "" "" "g.90810857del" "" "likely pathogenic" "" "0000684832" "3" "90" "5" "90106526" "90106527" "del" "0" "00004" "GPR98_010641" "g.90106526_90106527del" "" "{PMID:Santana 2019:31231422}" "" "c.15448_15449delCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000684987" "0" "70" "5" "89925235" "89925235" "subst" "0.00028453" "00004" "GPR98_010000" "g.89925235G>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000684988" "0" "70" "5" "90012539" "90012539" "subst" "0.00028922" "00004" "GPR98_010001" "g.90012539G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000684989" "0" "90" "5" "90016807" "90016807" "subst" "2.0327E-5" "00004" "GPR98_010637" "g.90016807C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.9679T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000684990" "0" "90" "5" "90059126" "90059126" "del" "0" "00004" "GPR98_010638" "g.90059126del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000684991" "0" "90" "5" "90106048" "90106048" "subst" "6.41272E-5" "00004" "GPR98_010640" "g.90106048A>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000684992" "0" "90" "5" "90106571" "90106571" "del" "0" "00004" "GPR98_010467" "g.90106571del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685648" "1" "70" "5" "89979682" "89979682" "dup" "0" "00004" "GPR98_010599" "g.89979682dup" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "c.5944dupT" "" "Germline" "" "" "0" "" "" "g.90683865dup" "" "likely pathogenic (recessive)" "" "0000685651" "3" "90" "5" "90261308" "90261308" "subst" "0" "00004" "GPR98_000206" "g.90261308A>G" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "" "" "Germline" "" "" "0" "" "" "g.90965491A>G" "" "pathogenic (recessive)" "" "0000685654" "1" "70" "5" "90136669" "90136669" "subst" "0" "00004" "GPR98_010643" "g.90136669G>A" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "" "" "Germline" "" "" "0" "" "" "g.90840852G>A" "" "likely pathogenic (recessive)" "" "0000685655" "3" "70" "5" "89971892" "89971892" "subst" "0" "00004" "GPR98_010636" "g.89971892T>A" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "" "" "Germline" "" "" "0" "" "" "g.90676075T>A" "" "likely pathogenic (recessive)" "" "0000685660" "3" "70" "5" "90086805" "90086805" "subst" "0" "00004" "GPR98_010639" "g.90086805C>T" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "" "" "Germline" "" "" "0" "" "" "g.90790988C>T" "" "likely pathogenic (recessive)" "" "0000685664" "3" "70" "5" "90281241" "90281241" "subst" "0" "00004" "GPR98_010644" "g.90281241G>A" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "" "" "Germline" "" "" "0" "" "" "g.90985424G>A" "" "likely pathogenic (recessive)" "" "0000685699" "1" "70" "5" "89930983" "89930983" "del" "0" "00004" "GPR98_010634" "g.89930983del" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "c.1892delC" "" "Germline" "" "" "0" "" "" "g.90635166del" "" "likely pathogenic (recessive)" "" "0000685702" "1" "90" "5" "89943443" "89943443" "subst" "0.00208562" "00004" "GPR98_000241" "g.89943443G>T" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.90647626G>T" "" "pathogenic" "" "0000685706" "3" "70" "5" "0" "0" "" "0" "00004" "RAD50_000000" "g.?" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "Del. exons 28–33" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000685707" "2" "90" "5" "0" "0" "" "0" "00004" "RAD50_000000" "g.?" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "Dup. exons 79–83" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685709" "2" "70" "5" "89949493" "89949493" "subst" "0" "00004" "GPR98_010635" "g.89949493A>T" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "" "" "Germline" "" "" "0" "" "" "g.90653676A>T" "" "likely pathogenic (recessive)" "" "0000685735" "2" "70" "5" "0" "0" "" "0" "00004" "RAD50_000000" "g.?" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "Del. Exon 85" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000689559" "0" "30" "5" "89854725" "89854725" "subst" "0" "01943" "GPR98_010645" "g.89854725C>T" "" "" "" "ADGRV1(NM_032119.4):c.13C>T (p.L5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689560" "0" "30" "5" "89918423" "89918423" "subst" "0.000409998" "01943" "GPR98_010646" "g.89918423A>G" "" "" "" "ADGRV1(NM_032119.4):c.463A>G (p.I155V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689561" "0" "90" "5" "89940652" "89940652" "subst" "8.33625E-6" "01943" "GPR98_000267" "g.89940652C>A" "" "" "" "ADGRV1(NM_032119.4):c.2864C>A (p.S955*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000689562" "0" "10" "5" "89943581" "89943581" "subst" "0.00527016" "02330" "GPR98_000093" "g.89943581G>A" "" "" "" "ADGRV1(NM_032119.4):c.3289G>A (p.G1097S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689563" "0" "30" "5" "89953806" "89953806" "subst" "8.12579E-6" "01943" "GPR98_010647" "g.89953806G>A" "" "" "" "ADGRV1(NM_032119.4):c.4463G>A (p.R1488Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689564" "0" "50" "5" "89953815" "89953815" "subst" "4.0626E-5" "01943" "GPR98_010648" "g.89953815C>T" "" "" "" "ADGRV1(NM_032119.4):c.4472C>T (p.T1491M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689565" "0" "90" "5" "89979528" "89979528" "dup" "0" "02325" "GPR98_010649" "g.89979528dup" "" "" "" "ADGRV1(NM_032119.4):c.5790dupT (p.I1931Yfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000689566" "0" "50" "5" "89981612" "89981612" "subst" "4.12402E-6" "01943" "GPR98_010650" "g.89981612G>A" "" "" "" "ADGRV1(NM_032119.4):c.6290G>A (p.R2097H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689567" "0" "90" "5" "89990019" "89990019" "subst" "0" "01943" "GPR98_010651" "g.89990019C>G" "" "" "" "ADGRV1(NM_032119.4):c.7446C>G (p.Y2482*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000689568" "0" "30" "5" "89992842" "89992842" "subst" "0.000109889" "01943" "GPR98_010652" "g.89992842T>G" "" "" "" "ADGRV1(NM_032119.4):c.8034T>G (p.T2678=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689569" "0" "30" "5" "89992896" "89992896" "subst" "0.000496173" "01943" "GPR98_010653" "g.89992896G>A" "" "" "" "ADGRV1(NM_032119.4):c.8088G>A (p.L2696=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689570" "0" "70" "5" "90002043" "90002043" "subst" "0" "01943" "GPR98_010654" "g.90002043A>G" "" "" "" "ADGRV1(NM_032119.4):c.8567-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000689571" "0" "30" "5" "90002142" "90002142" "subst" "4.07505E-6" "01943" "GPR98_010655" "g.90002142C>G" "" "" "" "ADGRV1(NM_032119.4):c.8661C>G (p.V2887=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689572" "0" "30" "5" "90021462" "90021462" "subst" "2.57608E-5" "01943" "GPR98_010656" "g.90021462G>A" "" "" "" "ADGRV1(NM_032119.4):c.10150G>A (p.E3384K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689573" "0" "30" "5" "90052790" "90052790" "subst" "0" "01943" "GPR98_010657" "g.90052790T>C" "" "" "" "ADGRV1(NM_032119.4):c.11758-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689574" "0" "50" "5" "90073733" "90073733" "subst" "0" "01943" "GPR98_010658" "g.90073733G>A" "" "" "" "ADGRV1(NM_032119.4):c.12539G>A (p.G4180D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689575" "0" "50" "5" "90074361" "90074361" "subst" "4.08243E-6" "01943" "GPR98_010659" "g.90074361A>G" "" "" "" "ADGRV1(NM_032119.4):c.12784A>G (p.S4262G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689576" "0" "30" "5" "90079076" "90079076" "subst" "4.0661E-6" "01943" "GPR98_010660" "g.90079076C>T" "" "" "" "ADGRV1(NM_032119.4):c.13367C>T (p.T4456I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689577" "0" "90" "5" "90083954" "90083960" "dup" "0" "01943" "GPR98_010661" "g.90083954_90083960dup" "" "" "" "ADGRV1(NM_032119.4):c.13720_13726dupGACCCAG (p.V4576Gfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000689578" "0" "30" "5" "90087078" "90087078" "subst" "0.00025668" "01943" "GPR98_010436" "g.90087078C>A" "" "" "" "ADGRV1(NM_032119.4):c.14432C>A (p.P4811Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689579" "0" "30" "5" "90119330" "90119330" "subst" "0.000134043" "01943" "GPR98_010662" "g.90119330G>A" "" "" "" "ADGRV1(NM_032119.4):c.16285G>A (p.E5429K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689580" "0" "50" "5" "90136657" "90136657" "subst" "0.000199278" "01943" "GPR98_010663" "g.90136657C>T" "" "" "" "ADGRV1(NM_032119.4):c.16874C>T (p.S5625L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689581" "0" "50" "5" "90149108" "90149108" "subst" "0" "01943" "GPR98_010664" "g.90149108A>G" "" "" "" "ADGRV1(NM_032119.4):c.17212A>G (p.T5738A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689582" "0" "30" "5" "90159570" "90159570" "subst" "1.21872E-5" "01943" "GPR98_000268" "g.90159570A>G" "" "" "" "ADGRV1(NM_032119.4):c.17756-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689583" "0" "70" "5" "90368293" "90368293" "del" "0" "02330" "GPR98_010408" "g.90368293del" "" "" "" "ADGRV1(NM_032119.4):c.18182delT (p.L6061Cfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000689584" "0" "50" "5" "90449188" "90449188" "subst" "3.31507E-5" "01943" "GPR98_010665" "g.90449188G>T" "" "" "" "ADGRV1(NM_032119.4):c.18775G>T (p.D6259Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000710310" "1" "90" "5" "89979682" "89979682" "dup" "0" "00006" "GPR98_010599" "g.89979682dup" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "5944dupT" "" "Germline" "" "" "0" "" "" "g.90683865dup" "" "pathogenic" "" "0000713280" "0" "90" "5" "89948189" "89948189" "subst" "0.00183801" "00000" "GPR98_000284" "g.89948189G>A" "" "{PMID:Carss 2017:28041643}" "" "5:89948189G>A ENST00000405460.2:c.3443G>A (Gly1148Asp)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713341" "3" "90" "5" "90074375" "90074375" "subst" "2.45694E-5" "00000" "GPR98_010667" "g.90074375T>A" "" "{PMID:Carss 2017:28041643}" "" "5:90074375T>A ENST00000405460.2:c.12798T>A (Tyr4266Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713372" "0" "90" "5" "90087163" "90087163" "subst" "0" "00000" "GPR98_010668" "g.90087163G>C" "" "{PMID:Carss 2017:28041643}" "" "5:90087163G>C ENST00000405460.2:c.14517G>C (Gln4839His)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713436" "0" "90" "5" "89923101" "89923101" "subst" "0.00638071" "00000" "GPR98_010032" "g.89923101G>A" "" "{PMID:Carss 2017:28041643}" "" "5:89923101G>A ENST00000405460.2:c.746G>A (Arg249Lys)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713695" "0" "90" "5" "90004709" "90004709" "subst" "0" "00000" "GPR98_010666" "g.90004709C>G" "" "{PMID:Carss 2017:28041643}" "" "5:90004709C>G ENST00000405460.2:c.8807C>G (Ser2936Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713741" "0" "90" "5" "90149210" "90149210" "subst" "8.13021E-6" "00000" "GPR98_010669" "g.90149210C>T" "" "{PMID:Carss 2017:28041643}" "" "5:90149210C>T ENST00000405460.2:c.17314C>T (Arg5772Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713773" "0" "90" "5" "89986808" "89986808" "subst" "4.87845E-5" "00000" "GPR98_000003" "g.89986808C>T" "" "{PMID:Carss 2017:28041643}" "" "5:89986808C>T ENST00000405460.2:c.6901C>T (Gln2301Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000720522" "0" "50" "5" "89925316" "89925316" "subst" "8.14757E-6" "01943" "GPR98_010671" "g.89925316A>G" "" "" "" "ADGRV1(NM_032119.4):c.1799A>G (p.N600S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720523" "0" "70" "5" "89938766" "89938766" "subst" "0" "02330" "GPR98_010672" "g.89938766G>T" "" "" "" "ADGRV1(NM_032119.4):c.2461G>T (p.E821*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720524" "0" "30" "5" "89949777" "89949777" "subst" "6.48786E-6" "01943" "GPR98_010674" "g.89949777T>A" "" "" "" "ADGRV1(NM_032119.4):c.4378+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720525" "0" "30" "5" "89988484" "89988484" "subst" "0" "01943" "GPR98_010675" "g.89988484A>T" "" "" "" "ADGRV1(NM_032119.4):c.7014A>T (p.A2338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720526" "0" "50" "5" "89990275" "89990275" "subst" "4.06616E-6" "02325" "GPR98_010676" "g.89990275G>A" "" "" "" "ADGRV1(NM_032119.4):c.7702G>A (p.V2568I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720527" "0" "50" "5" "89990308" "89990308" "subst" "4.06507E-5" "02329" "GPR98_010169" "g.89990308G>A" "" "" "" "ADGRV1(NM_032119.4):c.7735G>A (p.V2579M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720528" "0" "30" "5" "90002181" "90002181" "subst" "0" "01943" "GPR98_010533" "g.90002181A>T" "" "" "" "ADGRV1(NM_032119.4):c.8700A>T (p.T2900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720529" "0" "50" "5" "90020738" "90020738" "subst" "8.13809E-6" "01943" "GPR98_010677" "g.90020738T>C" "" "" "" "ADGRV1(NM_032119.4):c.9838T>C (p.Y3280H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720530" "0" "30" "5" "90079045" "90079045" "subst" "0.000426951" "01943" "GPR98_010678" "g.90079045G>A" "" "" "" "ADGRV1(NM_032119.4):c.13336G>A (p.G4446R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720531" "0" "50" "5" "90079091" "90079091" "subst" "0.000109834" "02325" "GPR98_010322" "g.90079091A>G" "" "" "" "ADGRV1(NM_032119.4):c.13382A>G (p.H4461R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720532" "0" "50" "5" "90103446" "90103446" "subst" "4.07136E-6" "02329" "GPR98_010573" "g.90103446A>G" "" "" "" "ADGRV1(NM_032119.4):c.14864A>G (p.Q4955R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720533" "0" "50" "5" "90103514" "90103514" "subst" "1.62641E-5" "01943" "GPR98_010679" "g.90103514T>C" "" "" "" "ADGRV1(NM_032119.4):c.14932T>C (p.S4978P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720534" "0" "50" "5" "90106411" "90106411" "subst" "9.35499E-5" "01943" "GPR98_010681" "g.90106411C>T" "" "" "" "ADGRV1(NM_032119.4):c.15334C>T (p.R5112C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720535" "0" "30" "5" "90119294" "90119294" "subst" "3.24979E-5" "01943" "GPR98_010683" "g.90119294G>A" "" "" "" "ADGRV1(NM_032119.4):c.16249G>A (p.V5417I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720536" "0" "50" "5" "90151630" "90151630" "subst" "1.63164E-5" "02330" "GPR98_010684" "g.90151630C>G" "" "" "" "ADGRV1(NM_032119.4):c.17667C>G (p.H5889Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720537" "0" "50" "5" "90281162" "90281162" "subst" "0" "01943" "GPR98_010685" "g.90281162C>G" "" "" "" "ADGRV1(NM_032119.4):c.17975C>G (p.S5992C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720538" "0" "50" "5" "90281227" "90281227" "subst" "0.000768424" "01943" "GPR98_000059" "g.90281227T>C" "" "" "" "ADGRV1(NM_032119.4):c.18040T>C (p.F6014L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000730134" "1" "90" "5" "90103553" "90103553" "subst" "4.48121E-6" "00000" "GPR98_010680" "g.90103553C>T" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.90807736C>T" "" "pathogenic" "ACMG" "0000730135" "1" "90" "5" "89924612" "89924612" "del" "0" "00000" "GPR98_010670" "g.89924612del" "" "{PMID:Sun 2018:29625443}" "" "c.1472delC" "" "Germline" "" "" "0" "" "" "g.90628795del" "" "pathogenic" "ACMG" "0000730213" "1" "50" "5" "89949369" "89949369" "subst" "0.000288662" "00000" "GPR98_010673" "g.89949369T>A" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.90653552T>A" "" "VUS" "ACMG" "0000730284" "2" "90" "5" "90103553" "90103553" "subst" "4.48121E-6" "00000" "GPR98_010680" "g.90103553C>T" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.90807736C>T" "" "pathogenic" "ACMG" "0000730290" "2" "90" "5" "90119270" "90119270" "subst" "2.44057E-5" "00000" "GPR98_010682" "g.90119270C>T" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.90823453C>T" "" "pathogenic" "ACMG" "0000730992" "1" "70" "5" "90101206" "90101206" "del" "4.06557E-6" "00000" "GPR98_010689" "g.90101206del" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs747459491" "0" "" "" "g.90805389del" "" "likely pathogenic (recessive)" "" "0000731050" "2" "70" "5" "90151631" "90151632" "del" "6.11865E-5" "00000" "GPR98_000017" "g.90151631_90151632del" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs757696771" "0" "" "" "g.90855814_90855815del" "" "likely pathogenic (recessive)" "" "0000731090" "0" "50" "5" "89979755" "89979755" "subst" "3.66889E-5" "00000" "GPR98_010687" "g.89979755G>A" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs768201036" "0" "" "" "g.90683938G>A" "" "VUS" "" "0000731392" "2" "70" "5" "89947465" "89947465" "subst" "0" "00000" "GPR98_010686" "g.89947465G>T" "" "{PMID:Eandi 2017:29142287}" "" "" "" "Germline" "" "" "0" "" "" "g.90651648G>T" "" "likely pathogenic (recessive)" "" "0000731411" "0" "50" "5" "89979871" "89979871" "subst" "0.00433146" "00000" "GPR98_010134" "g.89979871G>A" "" "{PMID:Eandi 2017:29142287}" "" "" "" "Germline" "" "" "0" "" "" "g.90684054G>A" "" "VUS" "" "0000731413" "0" "50" "5" "90049541" "90049541" "subst" "1.62747E-5" "00000" "GPR98_010688" "g.90049541C>A" "" "{PMID:Eandi 2017:29142287}" "" "" "" "Germline" "" "" "0" "" "" "g.90753724C>A" "" "VUS" "" "0000731417" "0" "50" "5" "89979871" "89979871" "subst" "0.00433146" "00000" "GPR98_010134" "g.89979871G>A" "" "{PMID:Eandi 2017:29142287}" "" "" "" "Germline" "yes" "" "0" "" "" "g.90684054G>A" "" "VUS" "" "0000731418" "0" "50" "5" "89979871" "89979871" "subst" "0.00433146" "00000" "GPR98_010134" "g.89979871G>A" "" "{PMID:Eandi 2017:29142287}" "" "" "" "Germline" "yes" "" "0" "" "" "g.90684054G>A" "" "VUS" "" "0000731421" "0" "50" "5" "90055259" "90055259" "subst" "0.00147297" "00000" "GPR98_000285" "g.90055259G>A" "" "{PMID:Eandi 2017:29142287}" "" "" "" "Germline" "yes" "" "0" "" "" "g.90759442G>A" "" "VUS" "" "0000732445" "0" "90" "5" "89990142" "89990142" "subst" "4.87733E-5" "00000" "GPR98_010692" "g.89990142A>G" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.90694325A>G" "" "pathogenic" "" "0000733237" "1" "70" "5" "89941808" "89941808" "del" "0" "00000" "GPR98_010691" "g.89941808del" "" "{PMID:Stone 2017:28559085}" "" "2920delT" "" "Germline" "" "" "0" "" "" "g.90645991del" "" "likely pathogenic" "" "0000733258" "1" "70" "5" "89931014" "89931024" "delins" "0" "00000" "GPR98_010690" "g.89931014_89931024delinsG" "" "{PMID:Stone 2017:28559085}" "" "1923_1933delACTGGTTACTCinsG" "" "Germline" "" "" "0" "" "" "g.90635197_90635207delinsG" "" "likely pathogenic" "" "0000733653" "2" "70" "5" "90103437" "90103437" "del" "0" "00000" "GPR98_010693" "g.90103437del" "" "{PMID:Stone 2017:28559085}" "" "14855delA" "" "Germline" "" "" "0" "" "" "g.90807620del" "" "likely pathogenic" "" "0000733663" "2" "70" "5" "90106265" "90106265" "subst" "0" "00000" "GPR98_010694" "g.90106265T>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.90810448T>C" "" "likely pathogenic" "" "0000735620" "0" "70" "5" "89949499" "89949499" "subst" "0" "00000" "GPR98_010092" "g.89949499T>G" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.90653682T>G" "" "likely pathogenic" "" "0000735742" "0" "70" "5" "89949499" "89949499" "subst" "0" "00000" "GPR98_010092" "g.89949499T>G" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.90653682T>G" "" "likely pathogenic" "" "0000735856" "1" "70" "5" "89992796" "89992797" "del" "0" "00000" "GPR98_010695" "g.89992796_89992797del" "" "{PMID:Riera 2017:28181551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.90696979_90696980del" "" "likely pathogenic" "" "0000735876" "2" "70" "5" "0" "0" "" "0" "00006" "RAD50_000000" "g.?" "" "{PMID:Riera 2017:28181551}" "" "ex2-50 deletion" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000735900" "1" "70" "5" "90083991" "90083991" "subst" "0" "02485" "GPR98_010696" "g.90083991A>T" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "" "" "0" "" "" "g.90788174A>T" "" "likely pathogenic" "" "0000735960" "2" "70" "5" "89989749" "89989749" "subst" "0.0034714" "02485" "GPR98_000032" "g.89989749C>T" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "" "" "0" "" "" "g.90693932C>T" "" "likely pathogenic" "" "0000735985" "1" "50" "5" "90004681" "90004681" "subst" "5.69305E-5" "02485" "GPR98_010198" "g.90004681G>A" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.90708864G>A" "" "VUS" "" "0000735992" "1" "50" "5" "90059209" "90059209" "subst" "9.3502E-5" "02485" "GPR98_010552" "g.90059209G>A" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.90763392G>A" "" "VUS" "" "0000759991" "0" "50" "5" "89938473" "89938473" "subst" "0.00015054" "00000" "GPR98_010062" "g.89938473T>C" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.90642656T>C" "" "VUS" "" "0000760011" "0" "50" "5" "90136800" "90136800" "subst" "0.00367558" "00000" "GPR98_010357" "g.90136800A>G" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.90840983A>G" "" "VUS" "" "0000760019" "0" "50" "5" "89940622" "89940622" "subst" "9.39696E-5" "00000" "GPR98_000039" "g.89940622G>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.90644805G>A" "" "VUS" "" "0000760308" "3" "50" "5" "89975426" "89975429" "del" "0" "00000" "GPR98_010697" "g.89975426_89975429del" "" "{PMID:Ellingford 2016:27208204}" "" "5504_5507delTTCC" "" "Germline" "" "" "0" "" "" "g.90679609_90679612del" "" "VUS" "" "0000763454" "3" "70" "5" "90016043" "90016043" "subst" "0" "02404" "GPR98_010701" "g.90016043A>C" "" "{PMID:Bahena 2021:34148116}" "" "" "effect on RNA from in vitro splicing assay" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000763455" "3" "90" "5" "90106813" "90106813" "subst" "0" "02404" "GPR98_010703" "g.90106813C>T" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000763456" "1" "90" "5" "89949622" "89949622" "del" "0" "02404" "GPR98_010698" "g.89949622del" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000763458" "0" "90" "5" "90021400" "90021403" "del" "0" "02404" "GPR98_000006" "g.90021400_90021403del" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000763462" "3" "50" "5" "90015929" "90015929" "subst" "0" "02404" "GPR98_010699" "g.90015929T>C" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000763470" "1" "50" "5" "89938473" "89938473" "subst" "0.00015054" "02404" "GPR98_010062" "g.89938473T>C" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "VUS" "ACMG" "0000763471" "2" "50" "5" "90041516" "90041516" "subst" "0" "02404" "GPR98_010702" "g.90041516A>C" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "VUS" "ACMG" "0000763563" "3" "90" "5" "89925125" "89925125" "subst" "0" "03219" "GPR98_000528" "g.89925125C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000764087" "0" "50" "5" "90086928" "90086928" "subst" "4.06646E-6" "03779" "GPR98_010706" "g.90086928A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs1475489417" "0" "" "" "" "" "VUS" "" "0000764165" "3" "90" "5" "89949622" "89949622" "del" "0" "02404" "GPR98_010698" "g.89949622del" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000764168" "1" "90" "5" "89925080" "89925080" "del" "0" "02404" "GPR98_010704" "g.89925080del" "" "{PMID:Bahena 2021:34148116}" "" "" "Parents unavailable for testing." "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000764185" "1" "50" "5" "89971116" "89971116" "subst" "2.44069E-5" "02404" "GPR98_010705" "g.89971116C>G" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "VUS" "ACMG" "0000764186" "2" "50" "5" "90103521" "90103521" "subst" "8.31283E-6" "02404" "GPR98_010707" "g.90103521T>C" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "VUS" "ACMG" "0000765240" "1" "70" "5" "89988451" "89988451" "del" "4.13719E-6" "00000" "GPR98_010709" "g.89988451del" "" "{PMID:Neuhaus 2017:28944237}" "" "6981delT" "" "Germline" "yes" "" "0" "" "" "g.90692634del" "" "likely pathogenic" "" "0000765328" "3" "70" "5" "89990179" "89990179" "subst" "0" "00000" "GPR98_010710" "g.89990179G>T" "" "{PMID:Neuhaus 2017:28944237}" "" "" "" "Germline" "" "" "0" "" "" "g.90694362G>T" "" "likely pathogenic" "" "0000765329" "1" "70" "5" "90004651" "90004651" "subst" "0" "00000" "GPR98_010711" "g.90004651G>T" "" "{PMID:Neuhaus 2017:28944237}" "" "" "" "Germline" "" "" "0" "" "" "g.90708834G>T" "" "likely pathogenic" "" "0000765330" "1" "70" "5" "90106793" "90106793" "del" "0" "00000" "GPR98_010715" "g.90106793del" "" "{PMID:Neuhaus 2017:28944237}" "" "15716delA" "" "Germline" "" "" "0" "" "" "g.90810976del" "" "likely pathogenic" "" "0000765335" "1" "70" "5" "90074727" "90074727" "subst" "1.22161E-5" "00000" "GPR98_010713" "g.90074727C>T" "" "{PMID:Neuhaus 2017:28944237}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.90778910C>T" "" "likely pathogenic" "" "0000765336" "1" "70" "5" "90050832" "90050832" "subst" "1.22048E-5" "00000" "GPR98_010712" "g.90050832C>T" "" "{PMID:Neuhaus 2017:28944237}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.90755015C>T" "" "likely pathogenic" "" "0000765349" "2" "70" "5" "90086689" "90086689" "subst" "0" "00000" "GPR98_010714" "g.90086689G>A" "" "{PMID:Neuhaus 2017:28944237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.90790872G>A" "" "likely pathogenic" "" "0000765417" "2" "70" "5" "0" "0" "" "0" "00000" "RAD50_000000" "g.?" "" "{PMID:Neuhaus 2017:28944237}" "" "del ex85" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000765418" "2" "70" "5" "90144643" "90144643" "subst" "4.69232E-6" "00000" "GPR98_010716" "g.90144643G>C" "" "{PMID:Neuhaus 2017:28944237}" "" "" "" "Germline" "" "" "0" "" "" "g.90848826G>C" "" "likely pathogenic" "" "0000765560" "1" "90" "5" "89938497" "89938497" "subst" "1.62612E-5" "00000" "GPR98_010708" "g.89938497G>A" "" "{PMID:Ge 2015:26667666}" "" "" "" "Germline" "" "" "0" "" "" "g.90642680G>A" "" "pathogenic" "" "0000765597" "2" "90" "5" "89949740" "89949740" "subst" "0.0001231" "00000" "GPR98_010596" "g.89949740A>G" "" "{PMID:Ge 2015:26667666}" "" "" "" "Germline" "" "" "0" "" "" "g.90653923A>G" "" "pathogenic" "" "0000785522" "1" "50" "5" "89989837" "89989837" "subst" "1.62869E-5" "00006" "GPR98_010717" "g.89989837C>T" "" "{PMID:Kikuchi 2015:25692141}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000786471" "1" "90" "5" "89923311" "89923311" "dup" "0" "00000" "GPR98_010718" "g.89923311dup" "" "{PMID:Consugar 2015:25412400}" "" "" "" "Germline" "yes" "" "0" "" "" "g.90627494dup" "" "pathogenic (recessive)" "" "0000786504" "2" "90" "5" "90151631" "90151632" "del" "6.11865E-5" "00000" "GPR98_000017" "g.90151631_90151632del" "" "{PMID:Consugar 2015:25412400}" "" "17668_17669delAT" "" "Germline" "yes" "" "0" "" "" "g.90855814_90855815del" "" "pathogenic (recessive)" "" "0000788129" "1" "90" "5" "90106813" "90106813" "subst" "0" "00000" "GPR98_010703" "g.90106813C>T" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.90810996C>T" "" "pathogenic" "" "0000788130" "3" "90" "5" "89988476" "89988476" "subst" "0" "00000" "GPR98_000295" "g.89988476C>T" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.90692659C>T" "" "pathogenic" "" "0000788170" "2" "90" "5" "90070121" "90070121" "subst" "0" "00000" "GPR98_010720" "g.90070121G>T" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.90774304G>T" "" "pathogenic" "" "0000788315" "0" "50" "5" "89925321" "89925321" "subst" "0.000110279" "00000" "GPR98_010044" "g.89925321G>A" "" "{PMID:Katagiri 2014:25268133}" "" "G1804A" "" "Germline" "" "" "0" "" "" "g.90629504G>A" "" "VUS" "" "0000788372" "0" "50" "5" "90086965" "90086965" "subst" "3.25285E-5" "00000" "GPR98_010721" "g.90086965A>G" "" "{PMID:Katagiri 2014:25268133}" "" "A14319G" "" "Germline" "" "rs201953675" "0" "" "" "g.90791148A>G" "" "VUS" "" "0000788401" "0" "50" "5" "89986793" "89986793" "subst" "4.06464E-6" "00000" "GPR98_010719" "g.89986793C>T" "" "{PMID:Katagiri 2014:25268133}" "" "C6886T" "" "Germline" "" "" "0" "" "" "g.90690976C>T" "" "VUS" "" "0000788460" "0" "50" "5" "90124929" "90124929" "subst" "1.21997E-5" "00000" "GPR98_010722" "g.90124929G>A" "" "{PMID:Katagiri 2014:25268133}" "" "G16537A" "" "Germline" "" "" "0" "" "" "g.90829112G>A" "" "VUS" "" "0000788474" "0" "50" "5" "90445941" "90445941" "subst" "0" "00000" "GPR98_010723" "g.90445941G>A" "" "{PMID:Katagiri 2014:25268133}" "" "G18527A" "" "Germline" "" "" "0" "" "" "g.91150124G>A" "" "VUS" "" "0000788485" "0" "50" "5" "89925321" "89925321" "subst" "0.000110279" "00000" "GPR98_010044" "g.89925321G>A" "" "{PMID:Katagiri 2014:25268133}" "" "G1804A" "" "Germline" "" "rs201015784" "0" "" "" "g.90629504G>A" "" "VUS" "" "0000789756" "0" "90" "5" "89986808" "89986808" "subst" "4.87845E-5" "00000" "GPR98_000003" "g.89986808C>T" "" "{PMID:Jacobson 2008:18463160}; {PMID:Schwartz 2005:15671307}" "" "Q2301X (6901C?T)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000789757" "0" "90" "5" "90002194" "90002197" "dup" "0" "00000" "GPR98_000004" "g.90002194_90002197dup" "" "{PMID:Jacobson 2008:18463160}; {PMID:Schwartz 2005:15671307}" "" "I2906FS (8716insAACA)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000789758" "0" "90" "5" "89986808" "89986808" "subst" "4.87845E-5" "00000" "GPR98_000003" "g.89986808C>T" "" "{PMID:Jacobson 2008:18463160}; {PMID:Schwartz 2005:15671307}" "" "Q2301X (6901C?T)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000789759" "0" "90" "5" "90002194" "90002197" "dup" "0" "00000" "GPR98_000004" "g.90002194_90002197dup" "" "{PMID:Jacobson 2008:18463160}; {PMID:Schwartz 2005:15671307}" "" "I2906FS (8716insAACA)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000789760" "0" "90" "5" "89986808" "89986808" "subst" "4.87845E-5" "00000" "GPR98_000003" "g.89986808C>T" "" "{PMID:Jacobson 2008:18463160}; {PMID:Schwartz 2005:15671307}" "" "Q2301X (6901C?T)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000789761" "0" "90" "5" "90002194" "90002197" "dup" "0" "00000" "GPR98_000004" "g.90002194_90002197dup" "" "{PMID:Jacobson 2008:18463160}; {PMID:Schwartz 2005:15671307}" "" "I2906FS (8716insAACA)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000789936" "3" "50" "5" "89949499" "89949499" "subst" "0" "04091" "GPR98_010092" "g.89949499T>G" "" "{DOI:Reurink 2021:10.3390/ijms22126419}" "" "" "" "Germline" "no" "" "0" "" "" "g.90653682T>G" "" "VUS" "ACMG" "0000794326" "0" "70" "5" "90446015" "90446015" "subst" "7.21345E-5" "00000" "GPR98_010724" "g.90446015A>C" "" "{PMID:Wang 2018:30029497}" "" "NM_032119.3:c.18601A>C, NP_115495.3:p.(Asn6201His), NC_000005.9:g.90446015A>C" "" "Germline" "?" "" "0" "" "" "g.91150198A>C" "" "likely pathogenic" "ACMG" "0000794327" "0" "90" "5" "89923284" "89923284" "subst" "9.34541E-5" "00000" "GPR98_000294" "g.89923284G>A" "" "{PMID:Wang 2018:30029497}" "" "NM_032119.3:c.929G>A, NP_115495.3:p.(Gly310Glu), NC_000005.9:g.89923284G>A" "" "Germline" "?" "" "0" "" "" "g.90627467G>A" "" "pathogenic" "ACMG" "0000796924" "0" "90" "5" "89999552" "89999552" "subst" "0" "00000" "GPR98_010004" "g.89999552T>G" "" "{PMID:Wang-2014:24154662}" "" "c.8226T>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796925" "0" "90" "5" "89948189" "89948189" "subst" "0.00183801" "00000" "GPR98_000284" "g.89948189G>A" "" "{PMID:Wang-2014:24154662}" "" "c.3443G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000797639" "0" "70" "5" "89948176" "89948176" "subst" "4.27515E-6" "00000" "GPR98_010725" "g.89948176C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "EYS c.350del, p.(Asn117Ilefs*14), c.4350_4356del, p.(Ile1451Profs*3), GPR98 c.3430C>T, p.(Arg1144*)" "" "Germline" "?" "" "0" "" "" "g.90652359C>T" "" "likely pathogenic" "ACMG" "0000797684" "0" "70" "5" "90144629" "90144629" "del" "0" "00000" "GPR98_010727" "g.90144629del" "" "{PMID:Jespersgaar 2019:30718709}" "" "GPR98 c.4379-1G>A, p.(?), c.17195del, p.(Pro5732Leufs*54),, pDE6A c.304C>A, p.(Arg102Ser)" "" "Germline" "?" "" "0" "" "" "g.90848812del" "" "likely pathogenic" "ACMG" "0000797685" "0" "70" "5" "89953721" "89953721" "subst" "0" "00000" "GPR98_010726" "g.89953721G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "GPR98 c.4379-1G>A, p.(?), c.17195del, p.(Pro5732Leufs*54),, pDE6A c.304C>A, p.(Arg102Ser)" "" "Germline" "?" "" "0" "" "" "g.90657904G>A" "" "likely pathogenic" "ACMG" "0000802208" "0" "30" "5" "89923486" "89923486" "subst" "0.000630051" "02330" "GPR98_010037" "g.89923486T>G" "" "" "" "ADGRV1(NM_032119.4):c.1131T>G (p.S377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802209" "0" "30" "5" "89924604" "89924604" "subst" "2.03249E-5" "01943" "GPR98_010728" "g.89924604G>A" "" "" "" "ADGRV1(NM_032119.4):c.1464G>A (p.L488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802210" "0" "50" "5" "89930940" "89930940" "subst" "0.000284262" "01943" "GPR98_000045" "g.89930940G>A" "" "" "" "ADGRV1(NM_032119.4):c.1849G>A (p.V617M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802211" "0" "30" "5" "89933637" "89933637" "subst" "0.000292771" "01943" "GPR98_010483" "g.89933637G>A" "" "" "" "ADGRV1(NM_032119.4):c.2112G>A (p.P704=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802212" "0" "30" "5" "89939662" "89939662" "subst" "0.000351868" "01943" "GPR98_010615" "g.89939662C>T" "" "" "" "ADGRV1(NM_032119.4):c.2596C>T (p.R866W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802213" "0" "50" "5" "89939702" "89939702" "subst" "0.000107139" "01943" "GPR98_010487" "g.89939702C>T" "" "" "" "ADGRV1(NM_032119.4):c.2636C>T (p.T879M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802214" "0" "50" "5" "89943504" "89943504" "subst" "2.8453E-5" "01943" "GPR98_010074" "g.89943504G>A" "" "" "" "ADGRV1(NM_032119.4):c.3212G>A (p.S1071N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802215" "0" "50" "5" "89948345" "89948345" "subst" "0" "01943" "GPR98_010729" "g.89948345A>G" "" "" "" "ADGRV1(NM_032119.4):c.3599A>G (p.N1200S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802216" "0" "30" "5" "89949655" "89949655" "subst" "8.62551E-5" "02330" "GPR98_010730" "g.89949655A>G" "" "" "" "ADGRV1(NM_032119.4):c.4264A>G (p.S1422G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802217" "0" "50" "5" "89988579" "89988579" "subst" "0" "01943" "GPR98_010731" "g.89988579G>T" "" "" "" "ADGRV1(NM_032119.4):c.7109G>T (p.C2370F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802218" "0" "50" "5" "89989727" "89989727" "subst" "0" "01943" "GPR98_010732" "g.89989727T>C" "" "" "" "ADGRV1(NM_032119.4):c.7154T>C (p.L2385P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802219" "0" "30" "5" "89989860" "89989860" "subst" "0" "01943" "GPR98_010733" "g.89989860C>T" "" "" "" "ADGRV1(NM_032119.4):c.7287C>T (p.V2429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802220" "0" "50" "5" "89990186" "89990194" "del" "0" "01943" "GPR98_010734" "g.89990186_89990194del" "" "" "" "ADGRV1(NM_032119.4):c.7613_7621delTTCTAATTT (p.F2538_I2540del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802221" "0" "90" "5" "89990490" "89990490" "del" "0" "01943" "GPR98_010735" "g.89990490del" "" "" "" "ADGRV1(NM_032119.4):c.7917delT (p.A2640Lfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000802222" "0" "10" "5" "89992941" "89992941" "subst" "0.000635215" "02330" "GPR98_010736" "g.89992941C>T" "" "" "" "ADGRV1(NM_032119.4):c.8133C>T (p.S2711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802223" "0" "90" "5" "90004703" "90004703" "subst" "0" "01943" "GPR98_010737" "g.90004703C>A" "" "" "" "ADGRV1(NM_032119.4):c.8801C>A (p.S2934*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000802224" "0" "30" "5" "90059270" "90059270" "subst" "0.00284507" "02330" "GPR98_000243" "g.90059270C>A" "" "" "" "ADGRV1(NM_032119.4):c.12269C>A (p.T4090N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802225" "0" "50" "5" "90073780" "90073780" "subst" "0.000102896" "01943" "GPR98_010738" "g.90073780C>T" "" "" "" "ADGRV1(NM_032119.4):c.12586C>T (p.P4196S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802226" "0" "30" "5" "90103513" "90103513" "subst" "2.84594E-5" "01943" "GPR98_010334" "g.90103513A>G" "" "" "" "ADGRV1(NM_032119.4):c.14931A>G (p.L4977=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802227" "0" "90" "5" "90111435" "90111435" "subst" "0" "02325" "GPR98_010739" "g.90111435G>A" "" "" "" "ADGRV1(NM_032119.4):c.16079-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000802228" "0" "30" "5" "90111532" "90111532" "subst" "7.34837E-5" "02330" "GPR98_010740" "g.90111532T>C" "" "" "" "ADGRV1(NM_032119.4):c.16175T>C (p.I5392T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802229" "0" "30" "5" "90136769" "90136769" "subst" "0" "01943" "GPR98_010741" "g.90136769A>G" "" "" "" "ADGRV1(NM_032119.4):c.16986A>G (p.E5662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802230" "0" "30" "5" "90151639" "90151639" "subst" "0" "01943" "GPR98_010742" "g.90151639G>T" "" "" "" "ADGRV1(NM_032119.4):c.17676G>T (p.V5892=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802231" "0" "50" "5" "90368344" "90368344" "subst" "0" "01943" "GPR98_010743" "g.90368344T>C" "" "" "" "ADGRV1(NM_032119.4):c.18233T>C (p.V6078A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000811943" "0" "70" "5" "89943433" "89943436" "del" "0" "00000" "GPR98_010744" "g.89943433_89943436del" "" "{PMID:Hariri 2018:31047384}" "" "c.3141_3144delAAGA (p.Arg1050IlefsX40),, c.14731A/G (p.Arg4911Gly)" "" "Germline" "?" "" "0" "" "" "g.90647616_90647619del" "" "likely pathogenic" "" "0000811944" "0" "70" "5" "90101170" "90101170" "subst" "8.12843E-6" "00000" "GPR98_010745" "g.90101170A>G" "" "{PMID:Hariri 2018:31047384}" "" "c.3141_3144delAAGA (p.Arg1050IlefsX40),c.11974G/A (p.Asp3992Asn), c.14731A/G (p.Arg4911Gly)" "" "Germline" "?" "" "0" "" "" "g.90805353A>G" "" "likely pathogenic" "" "0000811945" "0" "70" "5" "90055259" "90055259" "subst" "0.00147297" "00000" "GPR98_000285" "g.90055259G>A" "" "{PMID:Hariri 2018:31047384}" "" "c.3141_3144delAAGA (p.Arg1050IlefsX40),c.11974G/A (p.Asp3992Asn)," "" "Germline" "?" "" "0" "" "" "g.90759442G>A" "" "likely pathogenic" "" "0000812493" "3" "70" "5" "90144496" "90144496" "subst" "0" "00000" "GPR98_000235" "g.90144496C>T" "" "{PMID:Pater 2019:31046701}" "" "ADGRV1 c.17062C>T, p.(Arg5688*)" "" "Germline" "yes" "" "0" "" "" "g.90848679C>T" "" "likely pathogenic" "" "0000812494" "3" "70" "5" "90144496" "90144496" "subst" "0" "00000" "GPR98_000235" "g.90144496C>T" "" "{PMID:Pater 2019:31046701}" "" "ADGRV1 c.17062C>T, p.(Arg5688*)" "" "Germline" "yes" "" "0" "" "" "g.90848679C>T" "" "likely pathogenic" "" "0000813864" "0" "70" "5" "90016878" "90016878" "subst" "0" "00000" "GPR98_010747" "g.90016878T>C" "" "{PMID:Jiman 2020:31836858}" "" "ADGRV1(GPR98);NM_032119.3;c.[9748+2T>C];;[6962_6963del];p.[?];[(Val2321Alafs*4)]" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.90721061T>C" "" "likely pathogenic" "" "0000813865" "0" "70" "5" "89988432" "89988433" "del" "0" "00000" "GPR98_000122" "g.89988432_89988433del" "" "{PMID:Jiman 2020:31836858}" "" "ADGRV1(GPR98);NM_032119.3;c.[9748+2T>C];;[6962_6963del];p.[?];[(Val2321Alafs*4)]" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.90692615_90692616del" "" "likely pathogenic" "" "0000813868" "0" "70" "5" "90078940" "90078940" "subst" "8.14299E-6" "00000" "GPR98_010748" "g.90078940G>A" "" "{PMID:Jiman 2020:31836858}" "" "ADGRV1(GPR98);NM_032119.3;c.[13232-1G>A];[13232-1=];No relevant CNV detected" "single heterozygous variant in a recessive disease" "Unknown" "?" "" "0" "" "" "g.90783123G>A" "" "likely pathogenic" "" "0000813869" "0" "70" "5" "89939746" "89939746" "del" "0" "00000" "GPR98_010746" "g.89939746del" "" "{PMID:Jiman 2020:31836858}" "" "ADGRV1(GPR98);NM_032119.3;c.[2680del];[2680=];No CNV detected" "single heterozygous variant in a recessive disease" "Unknown" "?" "" "0" "" "" "g.90643929del" "" "likely pathogenic" "" "0000815741" "10" "70" "5" "90077330" "90077331" "ins" "0" "00000" "GPR98_010749" "g.90077330_90077331insGGAACTCCAGGAGGGT" "" "{PMID:Gonzalez-del Pozo 2020:32050993}" "" "ADGRV1 M6: c.13165_13166insTGGAACTCCAGGAGGG;p.Gly4360Glufs*10" "error in annotation, c.13165_13166insTGGAACTCCAGGAGGG is normalised to c.13166_13167insGGAACTCCAGGAGGGT and causes p.(Ile4389MetfsTer11) and not p.(Gly4360Glufs*10), heterozygous" "Germline" "yes" "" "0" "" "" "g.90781513_90781514insGGAACTCCAGGAGGGT" "" "likely pathogenic" "ACMG" "0000815954" "0" "90" "5" "90151631" "90151632" "del" "6.11865E-5" "00000" "GPR98_000017" "g.90151631_90151632del" "" "{PMID:Zampaglione 2020:32037395}" "" "GPR98 c.17668_17669del, p.Met5890ValfsTer10" "heterozygous" "Unknown" "?" "" "0" "" "" "g.90855814_90855815del" "" "pathogenic" "" "0000815962" "0" "90" "5" "90079653" "90079653" "subst" "0" "00000" "GPR98_010759" "g.90079653A>T" "" "{PMID:Zampaglione 2020:32037395}" "" "GPR98 c.13434-2A>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.90783836A>T" "" "pathogenic" "" "0000816066" "0" "90" "5" "90106048" "90106048" "subst" "6.41272E-5" "00000" "GPR98_010640" "g.90106048A>G" "" "{PMID:Zampaglione 2020:32037395}" "" "GPR98 c.14973-2A>G" "heterozygous" "Unknown" "?" "" "0" "" "" "g.90810231A>G" "" "pathogenic" "" "0000816067" "0" "70" "5" "90106508" "90106508" "dup" "0" "00000" "GPR98_010763" "g.90106508dup" "" "{PMID:Zampaglione 2020:32037395}" "" "GPR98 c.15431dup, p.Ala5145SerfsTer3" "heterozygous" "Unknown" "?" "" "0" "" "" "g.90810691dup" "" "likely pathogenic" "" "0000816070" "0" "90" "5" "89986808" "89986808" "subst" "4.87845E-5" "00000" "GPR98_000003" "g.89986808C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "GPR98 c.6901C>T, p.Gln2301Ter" "heterozygous" "Unknown" "?" "" "0" "" "" "g.90690991C>T" "" "pathogenic" "" "0000816181" "0" "70" "5" "90059223" "90059223" "subst" "0" "00000" "GPR98_010757" "g.90059223G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "GPR98 c.12222G>A, p.Trp4074Ter" "heterozygous" "Unknown" "?" "" "0" "" "" "g.90763406G>A" "" "likely pathogenic" "" "0000816216" "3" "70" "5" "90074274" "90074274" "dup" "0" "00000" "GPR98_010758" "g.90074274dup" "" "{PMID:Zampaglione 2020:32037395}" "" "GPR98 c.12697dup, p.Ser4233LysfsTer4" "homozygous" "Unknown" "?" "" "0" "" "" "g.90778457dup" "" "likely pathogenic" "" "0000816239" "0" "70" "5" "89888235" "90174967" "dup" "0" "00000" "GPR98_010750" "g.89888235_90174967dup" "" "{PMID:Zampaglione 2020:32037395}" "" "chr5:89888235–90174967dup (ex2-83)" "duplication exon 2-83 (17856 coding bases, in frame)" "Germline/De novo (untested)" "?" "" "0" "" "" "g.90592418_90879150dup" "" "likely pathogenic" "" "0000816250" "0" "50" "5" "89979402" "89979402" "subst" "0" "00000" "GPR98_010751" "g.89979402G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "GPR98 c.5665-1G>A" "unsolved" "Unknown" "?" "" "0" "" "" "g.90683585G>A" "" "VUS" "" "0000816261" "0" "50" "5" "89986808" "89986808" "subst" "4.87845E-5" "00000" "GPR98_000003" "g.89986808C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "GPR98 c.6901C>T, p.Gln2301Ter" "unsolved" "Unknown" "?" "" "0" "" "" "g.90690991C>T" "" "VUS" "" "0000816267" "0" "50" "5" "90049525" "90049525" "del" "0" "00000" "GPR98_010756" "g.90049525del" "" "{PMID:Zampaglione 2020:32037395}" "" "GPR98 c.11256del, p.Gly3753ValfsTer13" "unsolved" "Unknown" "?" "" "0" "" "" "g.90753708del" "" "VUS" "" "0000816306" "0" "90" "5" "90020777" "90020777" "subst" "4.19925E-6" "00000" "GPR98_000524" "g.90020777C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "c.9877C>T, p.Arg3293Ter" "heterozygous" "Unknown" "?" "" "0" "" "" "g.90724960C>T" "" "pathogenic" "" "0000816313" "0" "90" "5" "90107060" "90107062" "del" "0" "00000" "GPR98_010764" "g.90107060_90107062del" "" "{PMID:Zampaglione 2020:32037395}" "" "c.15983_15985del, p.Phe5328del" "heterozygous" "Unknown" "?" "" "0" "" "" "g.90811243_90811245del" "" "pathogenic" "" "0000816400" "0" "70" "5" "89948189" "89948189" "subst" "0.00183801" "00000" "GPR98_000284" "g.89948189G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "c.3443G>A, p.Gly1148Asp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.90652372G>A" "" "likely pathogenic" "" "0000816401" "0" "70" "5" "89989947" "89989948" "del" "0" "00000" "GPR98_010752" "g.89989947_89989948del" "" "{PMID:Zampaglione 2020:32037395}" "" "c.7374_7375del, p.Glu2459GlyfsTer35" "heterozygous" "Unknown" "?" "" "0" "" "" "g.90694130_90694131del" "" "likely pathogenic" "" "0000816402" "0" "70" "5" "90449059" "90449059" "del" "1.27307E-5" "00000" "GPR98_000007" "g.90449059del" "" "{PMID:Zampaglione 2020:32037395}" "" "c.18646del, p.Ala6216HisfsTer13" "heterozygous" "Unknown" "?" "" "0" "" "" "g.91153242del" "" "likely pathogenic" "" "0000816405" "0" "70" "5" "90002194" "90002197" "dup" "0" "00000" "GPR98_000004" "g.90002194_90002197dup" "" "{PMID:Zampaglione 2020:32037395}" "" "c.8713_8716dup, p.Ile2906LysfsTer6" "heterozygous" "Unknown" "?" "" "0" "" "" "g.90706377_90706380dup" "" "likely pathogenic" "" "0000816485" "0" "70" "5" "90106339" "90106339" "subst" "0" "00000" "GPR98_010762" "g.90106339G>T" "" "{PMID:Zampaglione 2020:32037395}" "" "c.15262G>T, p.Glu5088Ter" "heterozygous" "Unknown" "?" "" "0" "" "" "g.90810522G>T" "" "likely pathogenic" "" "0000816513" "0" "70" "5" "90074274" "90074274" "dup" "0" "00000" "GPR98_010758" "g.90074274dup" "" "{PMID:Zampaglione 2020:32037395}" "" "c.12697dup, p.Ser4233LysfsTer4" "heterozygous" "Unknown" "?" "" "0" "" "" "g.90778457dup" "" "likely pathogenic" "" "0000816525" "0" "90" "5" "90083889" "90083889" "dup" "0" "00000" "GPR98_010760" "g.90083889dup" "" "{PMID:Zampaglione 2020:32037395}" "" "c.13655dupT, p.Asn4553GlufsTer18" "heterozygous" "Unknown" "?" "" "0" "" "" "g.90788072dup" "" "pathogenic" "" "0000816644" "0" "90" "5" "90449037" "90449037" "subst" "0" "02416" "GPR98_010765" "g.90449037G>T" "" "Mansard 2021, submitted" "" "" "" "Germline" "" "rs774832185" "0" "" "" "" "" "pathogenic" "ACMG" "0000816802" "1" "70" "5" "90012529" "90012529" "subst" "0" "00000" "GPR98_010753" "g.90012529G>T" "" "{PMID:Jauregui 2020:32098976}" "" "GPR98 c.9430G>T, p.E3144X" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.90716712G>T" "" "likely pathogenic" "" "0000816877" "2" "70" "5" "90041084" "90041084" "subst" "0" "00000" "GPR98_010754" "g.90041084T>A" "" "{PMID:Jauregui 2020:32098976}" "" "GPR98 c.10769+2T>A, p.(?)" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.90745267T>A" "" "likely pathogenic" "" "0000816878" "2" "70" "5" "216243441" "216243441" "subst" "0" "00000" "GPR98_010766" "g.216243441A>C" "" "{PMID:Jauregui 2020:32098976}" "" "GPR98 c.6049+2T>G, p.(?)" "error in annotation, the coordinates do not agree with the intron/exon boundaries for the sole transcript; described as GPR98, this mutation is exactly the same as in USH2A, so most probably it is a copying error, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.216070099A>C" "" "likely pathogenic" "" "0000817135" "21" "90" "5" "89979682" "89979682" "dup" "0" "02416" "GPR98_010599" "g.89979682dup" "" "Mansard 2021, submitted" "" "" "" "Germline" "" "rs1554081619" "0" "" "" "" "" "pathogenic" "ACMG" "0000817141" "21" "90" "5" "90046366" "90046366" "subst" "0" "02416" "GPR98_010755" "g.90046366A>G" "" "Mansard 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000817218" "21" "70" "5" "90084128" "90084129" "dup" "0" "02416" "GPR98_010761" "g.90084128_90084129dup" "" "Mansard 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000818496" "1" "90" "5" "89949118" "89949118" "dup" "0" "00006" "GPR98_010767" "g.89949118dup" "" "{PMID:Lingao 2016:26894784}" "" "c.3727_3728insA" "" "Germline" "" "" "0" "" "" "g.90653301dup" "" "pathogenic (recessive)" "" "0000818504" "2" "90" "5" "90087033" "90087033" "dup" "0" "00006" "GPR98_010768" "g.90087033dup" "" "{PMID:Lingao 2016:26894784}" "" "c.14387_14388insA" "" "Germline" "" "" "0" "" "" "g.90791216dup" "" "pathogenic (recessive)" "" "0000819736" "1" "70" "5" "0" "0" "" "0" "00000" "RAD50_000000" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "ADGRV1, variant 1: c.12226_12227delins17/ p.I4076delinsVDESR*, variant 2: c.12226_12227delins17/ p.I4076delinsVDESR*" "inserted nucleotides not given in the publication, solved, homozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000819766" "1" "70" "5" "89953743" "89953743" "subst" "0" "00000" "GPR98_000271" "g.89953743G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "ADGRV1, variant 1: c.4400G>A/p.G1467E, variant 2: c.4400G>A/p.G1467E" "possibly solved, homozygous" "Unknown" "?" "" "0" "" "" "g.90657926G>A" "" "likely pathogenic" "" "0000819839" "1" "70" "5" "90001231" "90001231" "subst" "3.6702E-5" "00000" "GPR98_010771" "g.90001231G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "ADGRV1, variant 1: c.8401G>A/p.G2801R, variant 2: c.11974G>A/p.D3992N" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.90705414G>A" "" "likely pathogenic" "" "0000819980" "1" "70" "5" "89938451" "89938451" "subst" "0" "00000" "GPR98_010769" "g.89938451A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "ADGRV1, variant 1: c.2241-2A>G/p.?, variant 2: c.3195dup/p.G1066Wfs*3" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.90642634A>G" "" "likely pathogenic" "" "0000820731" "1" "70" "5" "90055259" "90055259" "subst" "0.00147297" "00000" "GPR98_000285" "g.90055259G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "ADGRV1, variant 1: c.8401G>A/p.G2801R, variant 2: c.11974G>A/p.D3992N" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.90759442G>A" "" "likely pathogenic" "" "0000820775" "1" "70" "5" "89943487" "89943487" "dup" "0" "00000" "GPR98_010770" "g.89943487dup" "" "{PMID:Weisschuh 2020:32531858}" "" "ADGRV1, variant 1: c.2241-2A>G/p.?, variant 2: c.3195dup/p.G1066Wfs*3" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.90647670dup" "" "likely pathogenic" "" "0000821259" "3" "70" "5" "90074375" "90074375" "subst" "2.45694E-5" "00000" "GPR98_010667" "g.90074375T>A" "" "{PMID:Turro 2020:32581362}" "" "GPR98 c.12798T>A, p.Tyr4266Ter" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.90778558T>A" "" "likely pathogenic" "" "0000821260" "0" "70" "5" "90087163" "90087163" "subst" "0" "00000" "GPR98_010668" "g.90087163G>C" "" "{PMID:Turro 2020:32581362}" "" "GPR98 c.14517G>C, p.Gln4839His" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.90791346G>C" "" "likely pathogenic" "" "0000821261" "0" "90" "5" "89986808" "89986808" "subst" "4.87845E-5" "00000" "GPR98_000003" "g.89986808C>T" "" "{PMID:Turro 2020:32581362}" "" "GPR98 c.6901C>T, p.Gln2301Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.90690991C>T" "" "pathogenic" "" "0000821262" "0" "70" "5" "90074814" "90074814" "subst" "0" "00000" "GPR98_010772" "g.90074814G>T" "" "{PMID:Turro 2020:32581362}" "" "GPR98 c.12982G>T, p.Glu4328Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.90778997G>T" "" "likely pathogenic" "" "0000821558" "0" "70" "5" "90149210" "90149210" "subst" "8.13021E-6" "00000" "GPR98_010669" "g.90149210C>T" "" "{PMID:Turro 2020:32581362}" "" "GPR98 c.17314C>T, p.Arg5772Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.90853393C>T" "" "likely pathogenic" "" "0000821559" "0" "70" "5" "89923101" "89923101" "subst" "0.00638071" "00000" "GPR98_010032" "g.89923101G>A" "" "{PMID:Turro 2020:32581362}" "" "GPR98 c.746G>A," "heterozygous, protein change annotation missing in the table" "Germline/De novo (untested)" "?" "" "0" "" "" "g.90627284G>A" "" "likely pathogenic" "" "0000822959" "3" "70" "5" "90074375" "90074375" "subst" "2.45694E-5" "00000" "GPR98_010667" "g.90074375T>A" "" "{PMID:Méjécase 2020:32783370}" "" "GPR98 c.12798T >A p.(Tyr4266*)" "homozygous" "Unknown" "?" "" "0" "" "" "g.90778558T>A" "" "likely pathogenic" "" "0000823249" "11" "50" "5" "89913818" "89913818" "subst" "0.000446918" "00000" "GPR98_010819" "g.89913818A>G" "" "{PMID:Hull 2020:32856788}" "" "ADGRV1 nucleotide 1, protein 1:c.357+48A>G, p.? nucleotide 2, protein 2:c.853C>G, p.Arg285Gly" "heterozygous, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.90618001A>G" "" "VUS" "" "0000823284" "0" "50" "5" "89923208" "89923208" "subst" "0.00021458" "00000" "GPR98_010033" "g.89923208C>G" "" "{PMID:Hull 2020:32856788}" "" "ADGRV1 nucleotide 1, protein 1:c.357+48A>G, p.? nucleotide 2, protein 2:c.853C>G, p.Arg285Gly" "heterozygous, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.90627391C>G" "" "VUS" "" "0000824724" "0" "50" "5" "89923284" "89923284" "subst" "9.34541E-5" "00000" "GPR98_000294" "g.89923284G>A" "" "{PMID:Ma 2021:33691693}" "" "ADGRV1 c.G929A, p.G310E" "marked as possibly causative, single heterozygous change in a recessive gene, heterozygous" "Unknown" "?" "" "0" "" "" "g.90627467G>A" "" "VUS" "ACMG" "0000825817" "0" "70" "5" "89949325" "89949325" "subst" "8.53999E-5" "00000" "GPR98_010774" "g.89949325G>A" "" "{PMID:Liu-2020:33090715}" "" "ADGRV1:c.3934G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825818" "0" "70" "5" "89989880" "89989880" "subst" "1.22028E-5" "00000" "GPR98_010777" "g.89989880T>G" "" "{PMID:Liu-2020:33090715}" "" "ADGRV1:c.7307T>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825932" "0" "70" "5" "89923284" "89923284" "subst" "9.34541E-5" "00000" "GPR98_000294" "g.89923284G>A" "" "{PMID:Liu-2020:33090715}" "" "ADGRV1:c.929G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825933" "0" "70" "5" "90446015" "90446015" "subst" "7.21345E-5" "00000" "GPR98_010724" "g.90446015A>C" "" "{PMID:Liu-2020:33090715}" "" "ADGRV1:c.18601A>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826442" "0" "50" "5" "90106571" "90106571" "del" "0" "00000" "GPR98_010467" "g.90106571del" "" "{PMID:Khalaileh-2018:29490346}" "" "c.15494delA" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000826981" "0" "90" "5" "90008201" "90008201" "subst" "0" "00000" "GPR98_010779" "g.90008201T>G" "" "{PMID:Thorsteinsson 2021:33851411}" "" "ADGRV1 c.9140T>G, p.Leu3047*" "homozygous" "Unknown" "?" "" "0" "" "" "g.90712384T>G" "" "pathogenic" "" "0000827440" "3" "90" "5" "89979692" "89979692" "del" "0" "00000" "GPR98_010776" "g.89979692del" "" "{PMID:Colombo-2020:33576794}" "" "ADGRV1:c.5954del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000827441" "0" "90" "5" "89949137" "89949137" "subst" "4.06412E-6" "00000" "GPR98_010773" "g.89949137T>G" "" "{PMID:Colombo-2020:33576794}" "" "ADGRV1:c.3746T>G" "" "Germline" "yes" "rs775348911" "0" "" "" "" "" "pathogenic" "" "0000827442" "0" "90" "5" "90001231" "90001231" "subst" "0" "00000" "GPR98_010778" "g.90001231G>T" "" "{PMID:Colombo-2020:33576794}" "" "ADGRV1:c.8401G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000827443" "0" "90" "5" "90025559" "90025559" "dup" "0" "00000" "GPR98_000523" "g.90025559dup" "" "{PMID:Colombo-2020:33576794}" "" "ADGRV1:c.10527dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000827444" "0" "90" "5" "90052980" "90052980" "subst" "0" "00000" "GPR98_010780" "g.90052980T>A" "" "{PMID:Colombo-2020:33576794}" "" "ADGRV1:c.11940+2T>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000827445" "0" "90" "5" "90149302" "90149308" "del" "0" "00000" "GPR98_010781" "g.90149302_90149308del" "" "{PMID:Colombo-2020:33576794}" "" "ADGRV1:c.17406_17412del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000827446" "0" "90" "5" "89953866" "89953866" "del" "0" "00000" "GPR98_010775" "g.89953866del" "" "{PMID:Colombo-2020:33576794}" "" "ADGRV1:c.4523del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000829459" "0" "50" "5" "89923124" "89923124" "subst" "0" "00000" "GPR98_010783" "g.89923124G>A" "" "{PMID:SkorczykWerner-2020:33308271}" "" "c.769G>A (p.Glu257Lys)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000829461" "0" "50" "5" "89923124" "89923124" "subst" "0" "00000" "GPR98_010783" "g.89923124G>A" "" "{PMID:SkorczykWerner-2020:33308271}" "" "c.769G>A (p.Glu257Lys)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000829496" "0" "70" "5" "90098677" "90098678" "del" "0" "00000" "GPR98_010788" "g.90098677_90098678del" "" "{PMID:Wafa-2021:33089500}" "" "ADGRV1:p.S4880fs" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829497" "0" "70" "5" "89923310" "89923313" "dup" "0" "00000" "GPR98_010785" "g.89923310_89923313dup" "" "{PMID:Wafa-2021:33089500}" "" "ADGRV1:c.954_955insAATC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829521" "0" "70" "5" "0" "0" "del" "0" "00000" "RAD50_000000" "g.?" "" "{PMID:Wafa-2021:33089500}" "" "ADGRV1:p.P194Horp.R2959Q" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829522" "0" "70" "5" "0" "0" "del" "0" "00000" "RAD50_000000" "g.?" "" "{PMID:Wafa-2021:33089500}" "" "ADGRV1:c.11771delT,p.V3924LfsX11" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829607" "0" "70" "5" "0" "0" "del" "0" "00000" "RAD50_000000" "g.?" "" "{PMID:Wafa-2021:33089500}" "" "ADGRV1:p.M5890fs" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829608" "0" "70" "5" "0" "0" "del" "0" "00000" "RAD50_000000" "g.?" "" "{PMID:Wafa-2021:33089500}" "" "ADGRV1:p.P4513fs" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829609" "0" "50" "5" "90119307" "90119307" "subst" "8.12381E-6" "00000" "GPR98_010789" "g.90119307A>T" "" "{PMID:Wafa-2021:33089500}" "" "ADGRV1:p.K5421M" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000829610" "0" "10" "5" "89923101" "89923101" "subst" "0.00638071" "00000" "GPR98_010032" "g.89923101G>A" "" "{PMID:Wafa-2021:33089500}" "" "ADGRV1:p.R249K" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000829611" "0" "70" "5" "0" "0" "del" "0" "00000" "RAD50_000000" "g.?" "" "{PMID:Wafa-2021:33089500}" "" "ADGRV1:p.M5890Vfs*10" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829612" "0" "70" "5" "0" "0" "del" "0" "00000" "RAD50_000000" "g.?" "" "{PMID:Wafa-2021:33089500}" "" "ADGRV1:p.Q1640Rfs*6" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829613" "0" "70" "5" "0" "0" "del" "0" "00000" "RAD50_000000" "g.?" "" "{PMID:Wafa-2021:33089500}" "" "ADGRV1:p.Q2301*" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829614" "0" "70" "5" "89988600" "89988600" "subst" "0" "00000" "GPR98_000292" "g.89988600G>A" "" "{PMID:Wafa-2021:33089500}" "" "ADGRV1:p.R2377Q" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829704" "1" "70" "5" "89924371" "89924371" "subst" "0" "00006" "GPR98_010786" "g.89924371C>G" "" "{PMID:Ellingford 2016:26872967}" "" "" "" "Germline" "" "" "0" "" "" "g.90628554C>G" "" "likely pathogenic" "" "0000829725" "2" "70" "5" "90109981" "90111708" "del" "0" "00006" "GPR98_010782" "g.90109981_90111708del" "" "{PMID:Ellingford 2016:26872967}" "" "c.16079-1455_c.16196+155del" "" "Germline" "" "" "0" "" "" "g.90814164_90815891del" "" "likely pathogenic" "" "0000829787" "0" "70" "5" "90449212" "90449212" "del" "0" "00000" "GPR98_010790" "g.90449212del" "" "{PMID:Dockery 2017:29099798}" "" "ADGRV1 c.18795delA, p.Leu6265fs" "NM_032119.3:c.18795delA automapped to NM_032119.3:c.18799delA and to p.Thr6267Leufs*22; only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees," "Germline" "yes" "" "0" "" "" "g.91153395del" "" "likely pathogenic" "" "0000829808" "0" "70" "5" "90149210" "90149210" "subst" "8.13021E-6" "00000" "GPR98_010669" "g.90149210C>T" "" "{PMID:Dockery 2017:29099798}" "" "ADGRV1 c.17314C>T, p.Arg5772 *" "only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees, no c.DNA annotation in paper for this variant, c. extrapolated from protein" "Germline" "yes" "" "0" "" "" "g.90853393C>T" "" "likely pathogenic" "" "0000829966" "0" "50" "5" "89923295" "89923295" "subst" "4.06316E-5" "00000" "GPR98_010784" "g.89923295G>A" "" "{PMID:Numa-2020:33247286}" "" "c.940G>A:p.A314T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000829967" "0" "50" "5" "89943338" "89943338" "subst" "0" "00000" "GPR98_010787" "g.89943338G>A" "" "{PMID:Numa-2020:33247286}" "" "c.3046G>A:p.E1016K" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000839229" "3" "70" "1" "89949499" "89949499" "subst" "0" "00000" "GPR98_010092" "g.89949499T>G" "" "{PMID:Reurink 2021:34203967}" "" "GPR98 c.4108T>G, p.(Phe1370Val)" "homozygous" "Unknown" "?" "" "0" "" "" "g.90653682T>G" "" "likely pathogenic" "ACMG" "0000839901" "3" "50" "5" "90119297" "90119297" "subst" "2.4374E-5" "00006" "GPR98_010578" "g.90119297G>A" "" "{PMID:Ozen 2017:28657829}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000850979" "0" "50" "5" "89914954" "89914954" "subst" "0.000299007" "02325" "GPR98_010791" "g.89914954A>G" "" "" "" "ADGRV1(NM_032119.4):c.409A>G (p.I137V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850980" "0" "50" "5" "89914970" "89914970" "subst" "0" "01943" "GPR98_010792" "g.89914970A>G" "" "" "" "ADGRV1(NM_032119.4):c.425A>G (p.N142S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850981" "0" "50" "5" "89924383" "89924383" "subst" "0.000122003" "01943" "GPR98_010793" "g.89924383G>A" "" "" "" "ADGRV1(NM_032119.4):c.1243G>A (p.E415K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850982" "0" "30" "5" "89938843" "89938843" "subst" "0.000150574" "01943" "GPR98_010795" "g.89938843G>A" "" "" "" "ADGRV1(NM_032119.4):c.2538G>A (p.L846=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850983" "0" "70" "5" "89940686" "89940686" "subst" "0" "02330" "GPR98_010796" "g.89940686G>C" "" "" "" "ADGRV1(NM_032119.4):c.2898G>C (p.E966D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000850984" "0" "30" "5" "89971103" "89971103" "subst" "5.28881E-5" "01943" "GPR98_010798" "g.89971103C>T" "" "" "" "ADGRV1(NM_032119.4):c.5154C>T (p.D1718=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850985" "0" "50" "5" "89971231" "89971231" "subst" "0.00017506" "01943" "GPR98_010110" "g.89971231C>G" "" "" "" "ADGRV1(NM_032119.4):c.5282C>G (p.S1761C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850986" "0" "50" "5" "89985807" "89985807" "subst" "1.27821E-5" "02325" "GPR98_010799" "g.89985807A>G" "" "" "" "ADGRV1(NM_032119.4):c.6620A>G (p.N2207S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850987" "0" "50" "5" "89989708" "89989708" "subst" "2.0877E-5" "01943" "GPR98_010524" "g.89989708G>A" "" "" "" "ADGRV1(NM_032119.4):c.7135G>A (p.G2379R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850988" "0" "50" "5" "90001318" "90001318" "subst" "0.000186952" "02325" "GPR98_010802" "g.90001318C>G" "" "" "" "ADGRV1(NM_032119.4):c.8488C>G (p.L2830V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850989" "0" "30" "5" "90006888" "90006888" "subst" "0" "02330" "GPR98_010803" "g.90006888G>T" "" "" "" "ADGRV1(NM_032119.4):c.8903+12G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850990" "0" "30" "5" "90024663" "90024663" "subst" "0.00138612" "02330" "GPR98_010242" "g.90024663G>A" "" "" "" "ADGRV1(NM_032119.4):c.10339G>A (p.E3447K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850991" "0" "30" "5" "90049615" "90049615" "subst" "0.000137359" "01943" "GPR98_010806" "g.90049615G>A" "" "" "" "ADGRV1(NM_032119.4):c.11346G>A (p.A3782=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850992" "0" "90" "5" "90052376" "90052376" "del" "0" "01943" "GPR98_010807" "g.90052376del" "" "" "" "ADGRV1(NM_032119.4):c.11686delA (p.M3896Wfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850993" "0" "90" "5" "90098656" "90098659" "del" "0" "02327" "GPR98_010809" "g.90098656_90098659del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850994" "0" "90" "5" "90103553" "90103553" "subst" "4.48121E-6" "01943" "GPR98_010680" "g.90103553C>T" "" "" "" "ADGRV1(NM_032119.4):c.14971C>T (p.R4991*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850995" "0" "50" "5" "90106265" "90106265" "subst" "0" "02327" "GPR98_010694" "g.90106265T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850996" "0" "50" "5" "90106517" "90106517" "subst" "0.000121896" "01943" "GPR98_000238" "g.90106517A>G" "" "" "" "ADGRV1(NM_032119.4):c.15440A>G (p.D5147G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850997" "0" "50" "5" "90149952" "90149952" "subst" "0.000166746" "01943" "GPR98_010364" "g.90149952A>G" "" "" "" "ADGRV1(NM_032119.4):c.17528A>G (p.Y5843C), GPR98(NM_032119.3):c.17528A>G (p.(Tyr5843Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860019" "0" "50" "5" "89925039" "89925039" "subst" "0.00218957" "01943" "GPR98_010040" "g.89925039A>C" "" "" "" "ADGRV1(NM_032119.4):c.1522A>C (p.I508L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860020" "0" "90" "5" "89930941" "89930942" "del" "0" "02330" "GPR98_010794" "g.89930941_89930942del" "" "" "" "ADGRV1(NM_032119.4):c.1850_1851delTG (p.V617Gfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000860021" "0" "50" "5" "89949583" "89949583" "subst" "0" "01943" "GPR98_010797" "g.89949583C>T" "" "" "" "ADGRV1(NM_032119.4):c.4192C>T (p.L1398F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860022" "0" "30" "5" "89990447" "89990447" "subst" "0.00247599" "01804" "GPR98_000086" "g.89990447G>A" "" "" "" "ADGRV1(NM_032119.4):c.7874G>A (p.R2625H), GPR98(NM_032119.3):c.7874G>A (p.(Arg2625His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860023" "0" "50" "5" "90001273" "90001273" "subst" "8.12843E-6" "01943" "GPR98_010800" "g.90001273A>G" "" "" "" "ADGRV1(NM_032119.4):c.8443A>G (p.T2815A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860024" "0" "50" "5" "90001295" "90001295" "subst" "3.25137E-5" "01943" "GPR98_010801" "g.90001295C>A" "" "" "" "ADGRV1(NM_032119.4):c.8465C>A (p.P2822Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860025" "0" "50" "5" "90007092" "90007092" "subst" "7.31636E-5" "01943" "GPR98_010804" "g.90007092C>G" "" "" "" "ADGRV1(NM_032119.4):c.8995C>G (p.Q2999E), GPR98(NM_032119.3):c.8995C>G (p.(Gln2999Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860026" "0" "70" "5" "90021052" "90021052" "subst" "0" "02327" "GPR98_010805" "g.90021052A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000860027" "0" "30" "5" "90052799" "90052799" "subst" "0.000128077" "01943" "GPR98_010808" "g.90052799G>A" "" "" "" "ADGRV1(NM_032119.4):c.11761G>A (p.A3921T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860028" "0" "50" "5" "90055259" "90055259" "subst" "0.00147297" "02330" "GPR98_000285" "g.90055259G>A" "" "" "" "ADGRV1(NM_032119.4):c.11974G>A (p.D3992N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860029" "0" "50" "5" "90107030" "90107030" "subst" "0" "01943" "GPR98_010810" "g.90107030A>T" "" "" "" "ADGRV1(NM_032119.4):c.15953A>T (p.D5318V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860030" "0" "90" "5" "90119270" "90119270" "subst" "2.44057E-5" "02327" "GPR98_010682" "g.90119270C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000860031" "0" "30" "5" "90446024" "90446024" "subst" "0" "01943" "GPR98_010811" "g.90446024G>T" "" "" "" "ADGRV1(NM_032119.4):c.18610G>T (p.G6204C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000869469" "3" "90" "5" "90101159" "90101159" "subst" "0" "00000" "GPR98_010814" "g.90101159T>A" "" "{PMID:Wang 2017:29106856}" "" "c.14720T > A (p.V4907D)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869471" "3" "90" "5" "90101159" "90101159" "subst" "0" "00000" "GPR98_010814" "g.90101159T>A" "" "{PMID:Wang 2017:29106856}" "" "c.14720T > A (p.V4907D)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869473" "11" "90" "5" "90124996" "90125003" "del" "0" "00000" "GPR98_010817" "g.90124996_90125003del" "" "{PMID:Moteki 2015:25743181}" "" "c.16604_16611delGTACCCAG (p.Ser5535ArgfsX6)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869474" "21" "90" "5" "90015881" "90015881" "subst" "0" "00000" "GPR98_010813" "g.90015881C>A" "" "{PMID:Moteki 2015:25743181}" "" "c.9464C>A (p.Ala3155Asp)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869475" "11" "90" "5" "90124996" "90125003" "del" "0" "00000" "GPR98_010817" "g.90124996_90125003del" "" "{PMID:Moteki 2015:25743181}" "" "c.16604_16611delGTACCCAG (p.Ser5535ArgfsX6)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869476" "21" "90" "5" "90015881" "90015881" "subst" "0" "00000" "GPR98_010813" "g.90015881C>A" "" "{PMID:Moteki 2015:25743181}" "" "c.9464C>A (p.Ala3155Asp)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869477" "11" "90" "5" "89923409" "89923409" "subst" "2.43817E-5" "00000" "GPR98_010391" "g.89923409C>A" "" "{PMID:Bousfiha 2017:28951997}" "" "c.1054C>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869478" "21" "90" "5" "90124936" "90124936" "del" "0" "00000" "GPR98_010816" "g.90124936del" "" "{PMID:Bousfiha 2017:28951997}" "" "c.16544delT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869479" "21" "90" "5" "90106085" "90106085" "del" "0" "00000" "GPR98_010815" "g.90106085del" "" "{PMID:Zhang 2018:29883260}" "" "ADGRV1: c.15008delG/p.Gly5003AlafsTer13" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869480" "11" "90" "5" "90398111" "90398114" "dup" "0" "00000" "GPR98_010818" "g.90398111_90398114dup" "" "{PMID:Zhang 2018:29883260}" "" "ADGRV1: c.18383_18386dupACAG/p.His6130GlnfsTer84" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869481" "21" "90" "5" "90106085" "90106085" "del" "0" "00000" "GPR98_010815" "g.90106085del" "" "{PMID:Zhang 2018:29883260}" "" "ADGRV1: c.15008delG/p.Gly5003AlafsTer13" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869482" "11" "90" "5" "90398111" "90398114" "dup" "0" "00000" "GPR98_010818" "g.90398111_90398114dup" "" "{PMID:Zhang 2018:29883260}" "" "ADGRV1: c.18383_18386dupACAG/p.His6130GlnfsTer84" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869483" "3" "70" "5" "89986819" "89986819" "dup" "0" "00000" "GPR98_010812" "g.89986819dup" "" "{PMID:Wei 2018:29890953}" "" "c.6912dupG (p.Leu2305Valfs*4)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000886930" "0" "30" "5" "89949510" "89949510" "subst" "4.09836E-5" "02330" "GPR98_010820" "g.89949510G>A" "" "" "" "ADGRV1(NM_032119.4):c.4119G>A (p.A1373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886931" "0" "10" "5" "89979698" "89979698" "subst" "0.363545" "02327" "GPR98_000215" "g.89979698C>T" "" "" "" "ADGRV1(NM_032119.4):c.5960C>T (p.P1987L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886932" "0" "10" "5" "89985882" "89985882" "subst" "0.364431" "02327" "GPR98_000142" "g.89985882A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886933" "0" "10" "5" "89988412" "89988412" "subst" "0.347653" "02327" "GPR98_000216" "g.89988412G>A" "" "" "" "ADGRV1(NM_032119.4):c.6952-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886934" "0" "10" "5" "89988504" "89988504" "subst" "0.35785" "02327" "GPR98_000217" "g.89988504A>G" "" "" "" "ADGRV1(NM_032119.4):c.7034A>G (p.N2345S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886935" "0" "10" "5" "89989752" "89989752" "subst" "0.00836268" "02327" "GPR98_000119" "g.89989752C>T" "" "" "" "ADGRV1(NM_032119.4):c.7179C>T (p.D2393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886936" "0" "10" "5" "89989779" "89989779" "subst" "0.359399" "02327" "GPR98_000218" "g.89989779G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886937" "0" "30" "5" "90012552" "90012552" "subst" "0.000896559" "02330" "GPR98_010216" "g.90012552G>A" "" "" "" "ADGRV1(NM_032119.4):c.9447+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886938" "0" "70" "5" "90016807" "90016807" "subst" "2.0327E-5" "02327" "GPR98_010637" "g.90016807C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000886939" "0" "30" "5" "90041477" "90041477" "subst" "8.13829E-6" "02330" "GPR98_010260" "g.90041477A>T" "" "" "" "ADGRV1(NM_032119.4):c.10839A>T (p.T3613=, p.(Thr3613=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886940" "0" "30" "5" "90059109" "90059109" "subst" "9.00244E-5" "02330" "GPR98_010821" "g.90059109T>C" "" "" "" "ADGRV1(NM_032119.4):c.12121-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886941" "0" "30" "5" "90074264" "90074264" "subst" "0" "02330" "GPR98_010822" "g.90074264C>T" "" "" "" "ADGRV1(NM_032119.4):c.12687C>T (p.P4229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886942" "0" "70" "5" "90151651" "90151651" "subst" "0" "02327" "GPR98_010823" "g.90151651T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000886944" "0" "30" "5" "90261355" "90261355" "subst" "0.000233689" "02330" "GPR98_010824" "g.90261355A>G" "" "" "" "ADGRV1(NM_032119.4):c.17973+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000905973" "0" "50" "5" "89979967" "89979967" "subst" "5.75227E-5" "00000" "GPR98_000246" "g.89979967G>A" "" "{PMID:Zhu 2022:35456422}" "" "GPR98 c.6229G>A, p.(Glu2077Lys)" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.90684150G>A" "" "VUS" "ACMG" "0000917863" "0" "50" "5" "89977125" "89977125" "subst" "0.00509258" "00006" "GPR98_000036" "g.89977125C>T" "" "{PMID:Velde 2022:35226187}, {DOI:Velde 2022: 10.1007/s00439-022-02441-0}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000924388" "0" "30" "5" "89924432" "89924432" "subst" "2.03094E-5" "02325" "GPR98_010825" "g.89924432C>T" "" "" "" "ADGRV1(NM_032119.4):c.1292C>T (p.A431V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924389" "0" "90" "5" "89986763" "89986763" "subst" "0" "02327" "GPR98_000062" "g.89986763C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924390" "0" "30" "5" "89986804" "89986804" "subst" "4.06484E-6" "02330" "GPR98_010826" "g.89986804C>T" "" "" "" "ADGRV1(NM_032119.4):c.6897C>T (p.T2299=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924391" "0" "30" "5" "89992842" "89992842" "subst" "0.000109889" "02330" "GPR98_010652" "g.89992842T>G" "" "" "" "ADGRV1(NM_032119.4):c.8034T>G (p.T2678=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924392" "0" "90" "5" "90024533" "90024533" "del" "0" "02327" "GPR98_010827" "g.90024533del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000927495" "0" "30" "5" "89914956" "89914956" "subst" "0" "00110" "GPR98_010828" "g.89914956A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000929112" "0" "50" "5" "89914970" "89914970" "subst" "0" "02327" "GPR98_010792" "g.89914970A>G" "" "" "" "ADGRV1(NM_032119.4):c.425A>G (p.N142S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929113" "0" "90" "5" "89938703" "89938703" "subst" "3.32568E-5" "02327" "GPR98_000101" "g.89938703C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929114" "0" "50" "5" "89943365" "89943365" "subst" "0" "02327" "GPR98_010829" "g.89943365C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929115" "0" "50" "5" "89992853" "89992853" "subst" "0" "02327" "GPR98_010830" "g.89992853G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929116" "0" "50" "5" "90055260" "90055260" "subst" "0" "02327" "GPR98_010831" "g.90055260A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929117" "0" "50" "5" "90073705" "90073705" "subst" "0" "02330" "GPR98_010401" "g.90073705T>G" "" "" "" "ADGRV1(NM_032119.4):c.12528-17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929118" "0" "50" "5" "90106222" "90106222" "subst" "2.8519E-5" "02327" "GPR98_010832" "g.90106222G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929119" "0" "50" "5" "90281183" "90281183" "subst" "0" "02330" "GPR98_010406" "g.90281183T>C" "" "" "" "ADGRV1(NM_032119.4):c.17996T>C (p.L5999P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000935897" "0" "70" "5" "89925249" "89925249" "subst" "0" "00006" "GPR98_010833" "g.89925249T>A" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PS2,PM2,PM6,PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.90629432T>A" "" "likely pathogenic (dominant)" "ACMG" "0000935924" "0" "70" "5" "90079673" "90079673" "subst" "0" "00006" "GPR98_010834" "g.90079673T>G" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM1,PM2,PP3,PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.90783856T>G" "" "likely pathogenic (dominant)" "ACMG" "0000935954" "0" "90" "5" "90124831" "90124831" "subst" "7.7337E-5" "00006" "GPR98_010835" "g.90124831G>A" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.90829014G>A" "" "pathogenic (dominant)" "" "0000935962" "0" "70" "5" "89949514" "89949514" "subst" "0" "00006" "GPR98_000091" "g.89949514G>C" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM1,PM2,PP3,PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.90653697G>C" "" "likely pathogenic (dominant)" "ACMG" "0000943888" "21" "90" "5" "89979755" "89979755" "del" "0" "00006" "GPR98_010836" "g.89979755del" "" "{PMID:Ammar-Khodja 2015:26029705}" "" "" "" "Germline" "yes" "" "0" "" "" "g.90683938del" "" "pathogenic (recessive)" "" "0000943889" "11" "90" "5" "89989761" "89989762" "ins" "0" "00006" "GPR98_010837" "g.89989761_89989762insN[14]" "" "{PMID:Ammar-Khodja 2015:26029705}" "" "c.7188_7189ins14 (Val2397Leufs*2)" "" "Germline" "yes" "" "0" "" "" "g.90693944_90693945insN[14]" "" "pathogenic (recessive)" "" "0000943905" "1" "90" "5" "89943524" "89943524" "subst" "0" "00006" "GPR98_010839" "g.89943524G>T" "" "{PMID:Sang 2019:31379920}" "" "" "" "Germline" "" "" "0" "" "" "g.90647707G>T" "" "pathogenic (recessive)" "ACMG" "0000943919" "2" "90" "5" "89933588" "89933594" "del" "0" "00006" "GPR98_010838" "g.89933588_89933594del" "" "{PMID:Sang 2019:31379920}" "" "2057_2063del" "" "Germline" "" "" "0" "" "" "g.90637771_90637777del" "" "pathogenic (recessive)" "ACMG" "0000943952" "3" "70" "5" "89923410" "89923410" "subst" "2.84453E-5" "00006" "GPR98_010478" "g.89923410C>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.90627593C>T" "" "likely pathogenic (recessive)" "ACMG" "0000948587" "0" "30" "5" "89918460" "89918460" "subst" "0.000499495" "02330" "GPR98_010840" "g.89918460T>C" "" "" "" "ADGRV1(NM_032119.4):c.500T>C (p.M167T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948588" "0" "30" "5" "89933548" "89933548" "subst" "0.0002831" "02330" "GPR98_010841" "g.89933548A>C" "" "" "" "ADGRV1(NM_032119.4):c.2023A>C (p.I675L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948589" "0" "30" "5" "89968474" "89968474" "subst" "0.000930546" "02330" "GPR98_000245" "g.89968474T>C" "" "" "" "ADGRV1(NM_032119.4):c.4864T>C (p.Y1622H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948590" "0" "30" "5" "89999530" "89999530" "subst" "0.000215001" "02330" "GPR98_010842" "g.89999530A>G" "" "" "" "ADGRV1(NM_032119.4):c.8204A>G (p.N2735S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948591" "0" "50" "5" "90008115" "90008115" "subst" "0.000102636" "02330" "GPR98_010208" "g.90008115T>G" "" "" "" "ADGRV1(NM_032119.4):c.9054T>G (p.F3018L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948592" "0" "30" "5" "90040920" "90040920" "subst" "0.00100376" "02330" "GPR98_010254" "g.90040920G>A" "" "" "" "ADGRV1(NM_032119.4):c.10607G>A (p.R3536H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948593" "0" "30" "5" "90041600" "90041600" "subst" "0" "02330" "GPR98_010843" "g.90041600T>G" "" "" "" "ADGRV1(NM_032119.4):c.10962T>G (p.V3654=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948594" "0" "50" "5" "90055259" "90055259" "subst" "0.00147297" "02325" "GPR98_000285" "g.90055259G>A" "" "" "" "ADGRV1(NM_032119.4):c.11974G>A (p.D3992N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948595" "0" "50" "5" "90074265" "90074265" "subst" "5.73141E-5" "02325" "GPR98_010844" "g.90074265G>A" "" "" "" "ADGRV1(NM_032119.4):c.12688G>A (p.E4230K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948596" "0" "30" "5" "90084121" "90084121" "subst" "0.000164531" "02330" "GPR98_010845" "g.90084121A>G" "" "" "" "ADGRV1(NM_032119.4):c.13887A>G (p.T4629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948597" "0" "30" "5" "90103438" "90103438" "subst" "6.52497E-5" "02330" "GPR98_000124" "g.90103438C>T" "" "" "" "ADGRV1(NM_032119.4):c.14856C>T (p.H4952=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948598" "0" "30" "5" "90106548" "90106548" "subst" "0.000186832" "02330" "GPR98_010846" "g.90106548C>T" "" "" "" "ADGRV1(NM_032119.4):c.15471C>T (p.S5157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948599" "0" "50" "5" "90151698" "90151698" "subst" "0.000516705" "02330" "GPR98_010368" "g.90151698C>G" "" "" "" "ADGRV1(NM_032119.4):c.17735C>G (p.S5912C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948600" "0" "30" "5" "90449130" "90449130" "subst" "3.69999E-5" "02330" "GPR98_010847" "g.90449130G>A" "" "" "" "ADGRV1(NM_032119.4):c.18717G>A (p.P6239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958423" "0" "50" "5" "90087078" "90087078" "subst" "0.00025668" "00006" "GPR98_010436" "g.90087078C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.90791261C>A" "" "VUS" "ACMG" "0000958424" "0" "90" "5" "89968464" "89968479" "dup" "0" "00006" "GPR98_010848" "g.89968464_89968479dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.90672647_90672662dup" "" "pathogenic (recessive)" "ACMG" "0000958434" "3" "50" "5" "90016865" "90016865" "subst" "0" "00006" "GPR98_010853" "g.90016865C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.90721048C>T" "" "VUS" "ACMG" "0000958436" "3" "50" "5" "90016865" "90016865" "subst" "0" "00006" "GPR98_010853" "g.90016865C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.90721048C>T" "" "VUS" "ACMG" "0000958540" "0" "50" "5" "90073733" "90073733" "subst" "0" "00006" "GPR98_010658" "g.90073733G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.90777916G>A" "" "VUS" "ACMG" "0000958541" "0" "50" "5" "89990041" "89990041" "subst" "0.000260243" "00006" "GPR98_010617" "g.89990041G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.90694224G>A" "" "VUS" "ACMG" "0000958757" "3" "70" "5" "89994677" "90030591" "del" "0" "00006" "GPR98_010851" "g.89994677_90030591del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.90698860_90734774del" "" "likely pathogenic (recessive)" "ACMG" "0000958759" "0" "90" "5" "90025490" "90025490" "subst" "0" "00006" "GPR98_000261" "g.90025490G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.90729673G>A" "" "pathogenic (recessive)" "ACMG" "0000958773" "0" "70" "5" "89949769" "89949769" "subst" "1.28748E-5" "00006" "GPR98_010394" "g.89949769G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.90653952G>A" "987000" "likely pathogenic (recessive)" "ACMG" "0000958910" "0" "50" "5" "90025504" "90025504" "subst" "0" "00006" "GPR98_010854" "g.90025504C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.90729687C>G" "" "VUS" "ACMG" "0000958950" "0" "70" "5" "89971260" "89971260" "subst" "0" "00006" "GPR98_010849" "g.89971260C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.90675443C>T" "" "likely pathogenic (recessive)" "ACMG" "0000958982" "3" "50" "5" "89972026" "89972026" "subst" "0" "00006" "GPR98_010850" "g.89972026G>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.90676209G>T" "" "VUS" "ACMG" "0000959050" "0" "50" "5" "90084006" "90084006" "subst" "5.69592E-5" "00006" "GPR98_010567" "g.90084006C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.90788189C>T" "" "VUS" "ACMG" "0000959208" "0" "70" "5" "90459679" "90459682" "del" "4.17404E-6" "00006" "GPR98_010468" "g.90459679_90459682del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_MODERATE, PP5_STRONG" "Germline" "" "" "0" "" "" "g.91163862_91163865del" "" "likely pathogenic (recessive)" "ACMG" "0000959224" "0" "90" "5" "89986763" "89986763" "subst" "0" "00006" "GPR98_000062" "g.89986763C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.90690946C>T" "" "pathogenic (recessive)" "ACMG" "0000959343" "0" "50" "5" "90055290" "90055290" "subst" "8.47314E-6" "00006" "GPR98_010855" "g.90055290A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.90759473A>G" "" "VUS" "ACMG" "0000959387" "0" "50" "5" "90015975" "90015975" "subst" "5.73662E-5" "00006" "GPR98_010852" "g.90015975C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.90720158C>T" "" "VUS" "ACMG" "0000960247" "11" "50" "5" "89988464" "89988464" "subst" "0.000276204" "00006" "GPR98_000046" "g.89988464A>T" "" "{PMID:Poli 2024:38177409}" "" "" "" "Germline" "" "" "0" "" "" "g.90692647A>T" "46359" "VUS" "" "0000960283" "21" "50" "5" "90149885" "90149885" "subst" "0" "00006" "GPR98_010856" "g.90149885T>C" "" "{PMID:Poli 2024:38177409}" "" "" "" "Germline" "" "" "0" "" "" "g.90854068T>C" "1915342" "VUS" "" "0000963708" "0" "30" "5" "89918409" "89918409" "subst" "0" "02330" "GPR98_010857" "g.89918409A>G" "" "" "" "ADGRV1(NM_032119.4):c.454-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963713" "0" "70" "5" "89941784" "89941784" "subst" "0" "02330" "GPR98_010858" "g.89941784G>A" "" "" "" "ADGRV1(NM_032119.4):c.2899-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000963723" "0" "50" "5" "90002207" "90002207" "subst" "0" "02325" "GPR98_010859" "g.90002207T>C" "" "" "" "ADGRV1(NM_032119.4):c.8726T>C (p.L2909P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963728" "0" "90" "5" "90052850" "90052850" "subst" "0" "02327" "GPR98_010860" "g.90052850C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000963729" "0" "30" "5" "90103564" "90103564" "subst" "1.86815E-5" "02330" "GPR98_010861" "g.90103564A>G" "" "" "" "ADGRV1(NM_032119.4):c.14972+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963730" "0" "90" "5" "90107050" "90107050" "subst" "0" "02327" "GPR98_010862" "g.90107050C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000963732" "0" "50" "5" "90281201" "90281201" "subst" "2.44172E-5" "02325" "GPR98_010863" "g.90281201A>G" "" "" "" "ADGRV1(NM_032119.4):c.18014A>G (p.H6005R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976878" "0" "70" "5" "89914940" "89914940" "del" "0" "02327" "GPR98_010867" "g.89914940del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976879" "0" "30" "5" "89943443" "89943443" "subst" "0.00208562" "01804" "GPR98_000241" "g.89943443G>T" "" "" "" "ADGRV1(NM_032119.4):c.3151G>T (p.D1051Y, p.(Asp1051Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976880" "0" "30" "5" "89943483" "89943483" "subst" "0.00209338" "01804" "GPR98_000242" "g.89943483A>C" "" "" "" "ADGRV1(NM_032119.4):c.3191A>C (p.E1064A, p.(Glu1064Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976881" "0" "50" "5" "89949365" "89949365" "subst" "4.47274E-5" "01804" "GPR98_000276" "g.89949365C>T" "" "" "" "ADGRV1(NM_032119.4):c.3974C>T (p.(Thr1325Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976882" "0" "30" "5" "89979833" "89979833" "subst" "0.000663692" "01804" "GPR98_010133" "g.89979833C>T" "" "" "" "ADGRV1(NM_032119.4):c.6095C>T (p.A2032V, p.(Ala2032Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976883" "0" "90" "5" "90004703" "90004703" "subst" "0" "02327" "GPR98_010737" "g.90004703C>A" "" "" "" "ADGRV1(NM_032119.4):c.8801C>A (p.S2934*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000976884" "0" "30" "5" "90021035" "90021035" "subst" "0.0055456" "01804" "GPR98_010229" "g.90021035T>C" "" "" "" "ADGRV1(NM_032119.4):c.10039T>C (p.(Phe3347Leu), p.F3347L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976886" "0" "50" "5" "90085544" "90085544" "subst" "2.2743E-5" "01804" "GPR98_010868" "g.90085544G>A" "" "" "" "ADGRV1(NM_032119.4):c.13919G>A (p.(Gly4640Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976887" "0" "90" "5" "90106048" "90106048" "subst" "6.41272E-5" "02327" "GPR98_010640" "g.90106048A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000995195" "0" "90" "5" "89949562" "89949562" "subst" "0" "02327" "GPR98_010869" "g.89949562G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000995196" "0" "50" "5" "90007092" "90007092" "subst" "7.31636E-5" "01804" "GPR98_010804" "g.90007092C>G" "" "" "" "ADGRV1(NM_032119.4):c.8995C>G (p.Q2999E), GPR98(NM_032119.3):c.8995C>G (p.(Gln2999Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995197" "0" "30" "5" "90016762" "90016762" "subst" "0" "01804" "GPR98_010870" "g.90016762A>T" "" "" "" "GPR98(NM_032119.3):c.9634A>T (p.(Ile3212Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995198" "0" "50" "5" "90059273" "90059273" "subst" "0" "02327" "GPR98_010871" "g.90059273T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995199" "0" "50" "5" "90070111" "90070111" "subst" "0" "01804" "GPR98_010872" "g.90070111C>G" "" "" "" "ADGRV1(NM_032119.3):c.12394C>G (p.(Pro4132Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995200" "0" "30" "5" "90073730" "90073730" "subst" "2.45282E-5" "01804" "GPR98_010873" "g.90073730G>A" "" "" "" "GPR98(NM_032119.3):c.12536G>A (p.(Arg4179Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995201" "0" "90" "5" "90084128" "90084128" "subst" "0" "02327" "GPR98_010008" "g.90084128G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000995202" "0" "50" "5" "90103514" "90103514" "subst" "1.62641E-5" "02327" "GPR98_010679" "g.90103514T>C" "" "" "" "ADGRV1(NM_032119.4):c.14932T>C (p.S4978P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995203" "0" "30" "5" "90119312" "90119312" "subst" "4.06197E-6" "01804" "GPR98_010874" "g.90119312G>A" "" "" "" "GPR98(NM_032119.3):c.16267G>A (p.(Gly5423Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014149" "0" "30" "5" "89938443" "89938443" "subst" "0.00137517" "02330" "GPR98_010061" "g.89938443A>T" "" "" "" "ADGRV1(NM_032119.4):c.2241-10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014150" "0" "90" "5" "89938714" "89938714" "dup" "0" "02330" "GPR98_010875" "g.89938714dup" "" "" "" "ADGRV1(NM_032119.4):c.2409dupG (p.S804Vfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014151" "0" "90" "5" "90151631" "90151632" "del" "6.11865E-5" "02330" "GPR98_000017" "g.90151631_90151632del" "" "" "" "ADGRV1(NM_032119.4):c.17668_17669delAT (p.M5890Vfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001022233" "0" "70" "5" "90002043" "90002043" "subst" "0" "04796" "GPR98_010654" "g.90002043A>G" "" "" "" "" "in vitro analysis 293T cells mini-gene exon trapping assay: effect on RNA inclusion of intron sequences" "CLASSIFICATION record" "" "" "0" "" "" "g.90706226A>G" "" "likely pathogenic" "" "0001022255" "1" "90" "5" "89925120" "89925120" "subst" "0" "00006" "GPR98_010876" "g.89925120C>T" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs746004086" "0" "" "" "g.90629303C>T" "" "pathogenic" "" "0001022274" "3" "90" "5" "89969878" "89969879" "ins" "0" "00006" "GPR98_010877" "g.89969878_89969879insCA" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "" "0" "" "" "g.90674061_90674062insCA" "" "pathogenic" "" "0001022327" "2" "90" "5" "90041526" "90041526" "subst" "0" "00006" "GPR98_010878" "g.90041526G>T" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "" "0" "" "" "g.90745709G>T" "" "pathogenic" "" "0001025143" "0" "90" "5" "90073729" "90073729" "subst" "0" "02327" "GPR98_010879" "g.90073729C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025144" "0" "90" "5" "90281212" "90281212" "subst" "0" "02327" "GPR98_000522" "g.90281212C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001030117" "3" "70" "5" "90012434" "90012435" "inv" "0" "04333" "GPR98_010880" "g.90012434_90012435inv" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.90716617_90716618inv" "" "likely pathogenic" "" "0001035334" "0" "30" "5" "89854743" "89854743" "subst" "0.00057317" "01804" "GPR98_010469" "g.89854743T>C" "" "" "" "ADGRV1(NM_032119.4):c.22+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035335" "0" "30" "5" "89920969" "89920969" "subst" "0.00454078" "01804" "GPR98_010030" "g.89920969C>A" "" "" "" "ADGRV1(NM_032119.4):c.581C>A (p.(Pro194His), p.P194H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035336" "0" "50" "5" "89925235" "89925235" "subst" "0.00028453" "01804" "GPR98_010000" "g.89925235G>T" "" "" "" "ADGRV1(NM_032119.4):c.1718G>T (p.G573V, p.(Gly573Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035337" "0" "30" "5" "89925363" "89925363" "subst" "0.00256604" "01804" "GPR98_010047" "g.89925363G>A" "" "" "" "ADGRV1(NM_032119.4):c.1839+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035338" "0" "90" "5" "89938766" "89938766" "subst" "0" "02327" "GPR98_010672" "g.89938766G>T" "" "" "" "ADGRV1(NM_032119.4):c.2461G>T (p.E821*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001035339" "0" "50" "5" "89941904" "89941904" "subst" "0" "01804" "GPR98_010881" "g.89941904T>C" "" "" "" "ADGRV1(NM_032119.4):c.3018T>C (p.(Phe1006=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035340" "0" "30" "5" "89948305" "89948305" "subst" "0.00250968" "01804" "GPR98_010087" "g.89948305A>G" "" "" "" "ADGRV1(NM_032119.4):c.3559A>G (p.I1187V, p.(Ile1187Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035341" "0" "50" "5" "89949251" "89949251" "subst" "0.000268262" "01804" "GPR98_010882" "g.89949251T>C" "" "" "" "ADGRV1(NM_032119.4):c.3860T>C (p.(Ile1287Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035342" "0" "30" "5" "89949605" "89949605" "subst" "0.00115148" "01804" "GPR98_000120" "g.89949605C>T" "" "" "" "ADGRV1(NM_032119.4):c.4214C>T (p.S1405F, p.(Ser1405Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035343" "0" "50" "5" "89949764" "89949764" "subst" "2.5504E-5" "01804" "GPR98_010498" "g.89949764C>G" "" "" "" "ADGRV1(NM_032119.4):c.4373C>G (p.T1458S, p.(Thr1458Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035344" "0" "50" "5" "89954009" "89954009" "subst" "0.000645707" "01804" "GPR98_010100" "g.89954009G>A" "" "" "" "ADGRV1(NM_032119.4):c.4666G>A (p.E1556K, p.(Glu1556Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035345" "0" "50" "5" "89977258" "89977258" "subst" "0" "01804" "GPR98_010883" "g.89977258C>T" "" "" "" "ADGRV1(NM_032119.4):c.5651C>T (p.(Thr1884Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035346" "0" "30" "5" "89985795" "89985795" "subst" "0.00257259" "01804" "GPR98_000031" "g.89985795T>C" "" "" "" "ADGRV1(NM_032119.4):c.6608T>C (p.V2203A, p.(Val2203Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035347" "0" "50" "5" "90008161" "90008161" "subst" "0" "01804" "GPR98_010884" "g.90008161G>A" "" "" "" "ADGRV1(NM_032119.4):c.9100G>A (p.(Asp3034Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035348" "0" "50" "5" "90012539" "90012539" "subst" "0.00028922" "01804" "GPR98_010001" "g.90012539G>A" "" "" "" "ADGRV1(NM_032119.4):c.9440G>A (p.(Arg3147Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035349" "0" "30" "5" "90016771" "90016771" "subst" "0.000285079" "01804" "GPR98_010885" "g.90016771G>A" "" "" "" "ADGRV1(NM_032119.4):c.9643G>A (p.(Glu3215Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035350" "0" "50" "5" "90041477" "90041477" "subst" "8.13829E-6" "01804" "GPR98_010260" "g.90041477A>T" "" "" "" "ADGRV1(NM_032119.4):c.10839A>T (p.T3613=, p.(Thr3613=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035351" "0" "30" "5" "90070066" "90070066" "subst" "0.000281226" "02327" "GPR98_010296" "g.90070066C>T" "" "" "" "ADGRV1(NM_032119.4):c.12349C>T (p.R4117C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035352" "0" "30" "5" "90073786" "90073786" "subst" "0.00467864" "01804" "GPR98_010305" "g.90073786G>A" "" "" "" "ADGRV1(NM_032119.4):c.12592G>A (p.(Val4198Met), p.V4198M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035353" "0" "30" "5" "90087161" "90087161" "subst" "0.00334468" "01804" "GPR98_010570" "g.90087161C>G" "" "" "" "ADGRV1(NM_032119.4):c.14515C>G (p.Q4839E, p.(Gln4839Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035354" "0" "30" "5" "90101157" "90101157" "subst" "2.43936E-5" "01804" "GPR98_010886" "g.90101157C>T" "" "" "" "ADGRV1(NM_032119.4):c.14718C>T (p.(His4906=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035355" "0" "50" "5" "90124906" "90124906" "subst" "4.06507E-6" "01804" "GPR98_010887" "g.90124906G>A" "" "" "" "ADGRV1(NM_032119.4):c.16514G>A (p.(Arg5505Gln))" "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 GPR98 ## Count = 2488 "{{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/Protein/Domain}}" "0000001022" "00000149" "70" "362" "0" "362" "0" "c.362del" "r.(?)" "p.(Pro121Leufs*5)" "4" "" "0000019543" "00000149" "75" "3443" "0" "3443" "0" "c.3443G>A" "r.(?)" "p.(Gly1148Asp)" "19" "" "0000019544" "00000149" "75" "8226" "0" "8226" "0" "c.8226T>G" "r.(?)" "p.(Ile2742Met)" "35" "" "0000021287" "00000149" "70" "1718" "0" "1718" "0" "c.1718G>T" "r.(?)" "p.(Gly573Val)" "-" "" "0000021288" "00000149" "70" "9440" "0" "9440" "0" "c.9440G>A" "r.(?)" "p.(Arg3147Gln)" "-" "" "0000035987" "00000149" "35" "17999" "0" "17999" "0" "c.17999T>C" "r.(?)" "p.(Val6000Ala)" "85" "" "0000035992" "00000149" "35" "7582" "0" "7582" "0" "c.7582C>T" "r.(?)" "p.(Pro2528Ser)" "33" "" "0000036002" "00000149" "55" "3482" "0" "3482" "0" "c.3482C>G" "r.(?)" "p.(Ser1161Cys)" "19" "" "0000089916" "00000149" "90" "2864" "0" "2864" "0" "c.2864C>A" "r.(?)" "p.(Ser955*)" "15" "" "0000089917" "00000149" "90" "3902" "0" "3903" "0" "c.3902_3903insAT" "r.(?)" "p.(Asp1301Glufs*34)" "20" "" "0000089918" "00000149" "50" "8875" "0" "8875" "0" "c.8875C>T" "r.(?)" "p.(Arg2959*)" "" "" "0000089919" "00000149" "50" "13893" "1" "13893" "1" "c.13893+1G>A" "r.spl?" "p.?" "" "" "0000089920" "00000149" "50" "18364" "0" "18364" "0" "c.18364G>A" "r.(?)" "p.(Gly6122Arg)" "87" "" "0000096196" "00000149" "70" "3443" "0" "3443" "0" "c.3443G>A" "r.(?)" "p.(Gly1148Asp)" "19" "" "0000246298" "00000149" "10" "9366" "0" "9366" "0" "c.9366A>G" "r.(?)" "p.(Thr3122=)" "" "" "0000246299" "00000149" "10" "8691" "0" "8691" "0" "c.8691A>C" "r.(?)" "p.(Glu2897Asp)" "" "" "0000246300" "00000149" "10" "4939" "0" "4939" "0" "c.4939A>G" "r.(?)" "p.(Ile1647Val)" "" "" "0000246301" "00000149" "50" "3191" "0" "3191" "0" "c.3191A>C" "r.(?)" "p.(Glu1064Ala)" "" "" "0000246305" "00000149" "10" "18273" "0" "18273" "0" "c.18273A>G" "r.(?)" "p.(Ala6091=)" "" "" "0000246307" "00000149" "10" "17017" "0" "17017" "0" "c.17017A>G" "r.(?)" "p.(Lys5673Glu)" "" "" "0000246314" "00000149" "10" "6174" "0" "6174" "0" "c.6174A>T" "r.(?)" "p.(Ile2058=)" "" "" "0000246315" "00000149" "10" "1522" "0" "1522" "0" "c.1522A>C" "r.(?)" "p.(Ile508Leu)" "" "" "0000246326" "00000149" "10" "10769" "9" "10769" "9" "c.10769+9A>G" "r.(=)" "p.(=)" "" "" "0000246339" "00000149" "10" "2043" "0" "2043" "0" "c.2043A>G" "r.(?)" "p.(Gly681=)" "" "" "0000246340" "00000149" "10" "3303" "0" "3303" "0" "c.3303A>G" "r.(?)" "p.(Val1101=)" "" "" "0000246341" "00000149" "10" "3780" "0" "3780" "0" "c.3780A>G" "r.(?)" "p.(Glu1260=)" "" "" "0000246342" "00000149" "10" "14286" "0" "14286" "0" "c.14286A>G" "r.(?)" "p.(Gly4762=)" "" "" "0000246343" "00000149" "10" "14931" "0" "14931" "0" "c.14931A>G" "r.(?)" "p.(Leu4977=)" "" "" "0000246346" "00000149" "10" "3559" "0" "3559" "0" "c.3559A>G" "r.(?)" "p.(Ile1187Val)" "" "" "0000246352" "00000149" "10" "14654" "0" "14654" "0" "c.14654A>G" "r.(?)" "p.(Asn4885Ser)" "" "" "0000246371" "00000149" "10" "9907" "-16" "9907" "-16" "c.9907-16A>C" "r.(=)" "p.(=)" "" "" "0000246372" "00000149" "10" "18803" "-13" "18803" "-13" "c.18803-13A>G" "r.(=)" "p.(=)" "" "" "0000246375" "00000149" "30" "15440" "0" "15440" "0" "c.15440A>G" "r.(?)" "p.(Asp5147Gly)" "" "" "0000246378" "00000149" "30" "13450" "0" "13450" "0" "c.13450A>G" "r.(?)" "p.(Ile4484Val)" "" "" "0000246382" "00000149" "30" "16259" "0" "16259" "0" "c.16259A>T" "r.(?)" "p.(Gln5420Leu)" "" "" "0000246389" "00000149" "30" "2734" "8" "2734" "8" "c.2734+8A>G" "r.(=)" "p.(=)" "" "" "0000246391" "00000149" "90" "18270" "0" "18270" "0" "c.18270del" "r.(?)" "p.(Ala6091HisfsTer17)" "" "" "0000246397" "00000149" "50" "8161" "0" "8161" "0" "c.8161A>G" "r.(?)" "p.(Ile2721Val)" "" "" "0000248220" "00000149" "10" "7751" "0" "7751" "0" "c.7751A>G" "r.(?)" "p.(Asn2584Ser)" "" "" "0000248561" "00000149" "10" "3141" "0" "3141" "0" "c.3141A>G" "r.(?)" "p.(Ala1047=)" "" "" "0000248755" "00000149" "10" "16031" "0" "16031" "0" "c.16031A>G" "r.(?)" "p.(Glu5344Gly)" "" "" "0000248858" "00000149" "10" "5953" "0" "5953" "0" "c.5953A>G" "r.(?)" "p.(Asn1985Asp)" "" "" "0000249301" "00000149" "30" "10769" "9" "10769" "9" "c.10769+9A>G" "r.(=)" "p.(=)" "" "" "0000249784" "00000149" "50" "6620" "0" "6620" "0" "c.6620A>T" "r.(?)" "p.(Asn2207Ile)" "" "" "0000250707" "00000149" "10" "10769" "9" "10769" "9" "c.10769+9A>G" "r.(=)" "p.(=)" "" "" "0000250745" "00000149" "10" "8691" "0" "8691" "0" "c.8691A>C" "r.(?)" "p.(Glu2897Asp)" "" "" "0000250746" "00000149" "10" "4939" "0" "4939" "0" "c.4939A>G" "r.(?)" "p.(Ile1647Val)" "" "" "0000250754" "00000149" "10" "3559" "0" "3559" "0" "c.3559A>G" "r.(?)" "p.(Ile1187Val)" "" "" "0000250787" "00000149" "30" "3191" "0" "3191" "0" "c.3191A>C" "r.(?)" "p.(Glu1064Ala)" "" "" "0000250923" "00000149" "10" "7751" "0" "7751" "0" "c.7751A>G" "r.(?)" "p.(Asn2584Ser)" "" "" "0000251016" "00000149" "10" "10872" "0" "10872" "0" "c.10872A>G" "r.(?)" "p.(Gln3624=)" "" "" "0000251125" "00000149" "10" "18475" "0" "18475" "0" "c.18475A>G" "r.(?)" "p.(Met6159Val)" "" "" "0000251132" "00000149" "10" "7034" "0" "7034" "0" "c.7034A>G" "r.(?)" "p.(Asn2345Ser)" "" "" "0000251358" "00000149" "10" "6275" "-137" "6275" "-137" "c.6275-137A>T" "r.(=)" "p.(=)" "" "" "0000251359" "00000149" "10" "7134" "-14" "7134" "-14" "c.7134-14A>G" "r.(=)" "p.(=)" "" "" "0000251360" "00000149" "10" "8824" "50" "8824" "50" "c.8824+50A>C" "r.(=)" "p.(=)" "" "" "0000251361" "00000149" "10" "8825" "-40" "8825" "-40" "c.8825-40A>G" "r.(=)" "p.(=)" "" "" "0000251362" "00000149" "10" "9043" "-57" "9043" "-57" "c.9043-57A>G" "r.(=)" "p.(=)" "" "" "0000251363" "00000149" "10" "14043" "75" "14043" "75" "c.14043+75A>G" "r.(=)" "p.(=)" "" "" "0000251364" "00000149" "10" "16078" "86" "16078" "86" "c.16078+86A>G" "r.(=)" "p.(=)" "" "" "0000251365" "00000149" "10" "17973" "73" "17973" "73" "c.17973+73A>G" "r.(=)" "p.(=)" "" "" "0000251366" "00000149" "10" "17974" "-116" "17974" "-116" "c.17974-116A>G" "r.(=)" "p.(=)" "" "" "0000251367" "00000149" "10" "18153" "-122" "18153" "-122" "c.18153-122A>T" "r.(=)" "p.(=)" "" "" "0000251368" "00000149" "10" "18310" "8" "18310" "8" "c.18310+8A>G" "r.(=)" "p.(=)" "" "" "0000251369" "00000149" "10" "18803" "-13" "18803" "-13" "c.18803-13A>G" "r.(=)" "p.(=)" "" "" "0000251729" "00000149" "30" "6174" "0" "6174" "0" "c.6174A>T" "r.(?)" "p.(Ile2058=)" "" "" "0000251732" "00000149" "30" "1522" "0" "1522" "0" "c.1522A>C" "r.(?)" "p.(Ile508Leu)" "" "" "0000251785" "00000149" "30" "1086" "0" "1086" "0" "c.1086A>G" "r.(?)" "p.(Leu362=)" "" "" "0000251786" "00000149" "30" "4260" "0" "4260" "0" "c.4260A>G" "r.(?)" "p.(Glu1420=)" "" "" "0000251787" "00000149" "30" "16164" "0" "16164" "0" "c.16164A>G" "r.(?)" "p.(Arg5388=)" "" "" "0000251788" "00000149" "30" "18273" "0" "18273" "0" "c.18273A>G" "r.(?)" "p.(Ala6091=)" "" "" "0000251853" "00000149" "30" "12476" "0" "12476" "0" "c.12476A>C" "r.(?)" "p.(His4159Pro)" "" "" "0000251862" "00000149" "30" "4624" "0" "4624" "0" "c.4624A>G" "r.(?)" "p.(Ile1542Val)" "" "" "0000251865" "00000149" "30" "7576" "0" "7576" "0" "c.7576A>G" "r.(?)" "p.(Ile2526Val)" "" "" "0000251866" "00000149" "30" "8161" "0" "8161" "0" "c.8161A>G" "r.(?)" "p.(Ile2721Val)" "" "" "0000251867" "00000149" "30" "8572" "0" "8572" "0" "c.8572A>G" "r.(?)" "p.(Ile2858Val)" "" "" "0000251902" "00000149" "30" "17017" "0" "17017" "0" "c.17017A>G" "r.(?)" "p.(Lys5673Glu)" "" "" "0000251924" "00000149" "30" "9847" "0" "9847" "0" "c.9847A>G" "r.(?)" "p.(Met3283Val)" "" "" "0000251937" "00000149" "30" "6871" "0" "6871" "0" "c.6871A>G" "r.(?)" "p.(Asn2291Asp)" "" "" "0000251950" "00000149" "30" "1817" "0" "1817" "0" "c.1817A>C" "r.(?)" "p.(Asn606Thr)" "" "" "0000251955" "00000149" "30" "2459" "0" "2459" "0" "c.2459A>G" "r.(?)" "p.(Asn820Ser)" "" "" "0000251965" "00000149" "30" "17342" "0" "17342" "0" "c.17342A>C" "r.(?)" "p.(Gln5781Pro)" "" "" "0000251980" "00000149" "30" "3295" "0" "3295" "0" "c.3295A>G" "r.(?)" "p.(Thr1099Ala)" "" "" "0000251993" "00000149" "30" "7229" "0" "7229" "0" "c.7229A>G" "r.(?)" "p.(Tyr2410Cys)" "" "" "0000252107" "00000149" "30" "-67" "0" "-67" "0" "c.-67A>T" "r.(?)" "p.(=)" "" "" "0000252108" "00000149" "30" "23" "-663" "23" "-663" "c.23-663del" "r.(=)" "p.(=)" "" "" "0000252109" "00000149" "30" "23" "-561" "23" "-561" "c.23-561A>G" "r.(=)" "p.(=)" "" "" "0000252110" "00000149" "30" "207" "3" "207" "3" "c.207+3A>G" "r.spl?" "p.?" "" "" "0000252111" "00000149" "30" "453" "23" "453" "23" "c.453+23A>C" "r.(=)" "p.(=)" "" "" "0000252112" "00000149" "30" "673" "-140" "673" "-140" "c.673-140del" "r.(=)" "p.(=)" "" "" "0000252113" "00000149" "30" "2017" "-80" "2017" "-80" "c.2017-80A>G" "r.(=)" "p.(=)" "" "" "0000252114" "00000149" "30" "2241" "-10" "2241" "-10" "c.2241-10A>T" "r.(=)" "p.(=)" "" "" "0000252115" "00000149" "30" "3416" "53" "3416" "53" "c.3416+53A>G" "r.(=)" "p.(=)" "" "" "0000252116" "00000149" "30" "5110" "71" "5110" "71" "c.5110+71A>C" "r.(=)" "p.(=)" "" "" "0000252117" "00000149" "30" "5444" "-164" "5444" "-164" "c.5444-164A>G" "r.(=)" "p.(=)" "" "" "0000252118" "00000149" "30" "5444" "-60" "5444" "-60" "c.5444-60A>G" "r.(=)" "p.(=)" "" "" "0000252119" "00000149" "30" "6274" "91" "6274" "91" "c.6274+91A>T" "r.(=)" "p.(=)" "" "" "0000252120" "00000149" "30" "9042" "125" "9042" "125" "c.9042+125A>G" "r.(=)" "p.(=)" "" "" "0000252121" "00000149" "30" "9624" "-66" "9624" "-66" "c.9624-66A>T" "r.(=)" "p.(=)" "" "" "0000252122" "00000149" "30" "9748" "36" "9748" "36" "c.9748+36A>T" "r.(=)" "p.(=)" "" "" "0000252123" "00000149" "30" "10053" "120" "10053" "120" "c.10053+120A>C" "r.(=)" "p.(=)" "" "" "0000252124" "00000149" "30" "10161" "67" "10161" "67" "c.10161+67A>G" "r.(=)" "p.(=)" "" "" "0000252125" "00000149" "30" "10162" "-92" "10162" "-92" "c.10162-92A>T" "r.(=)" "p.(=)" "" "" "0000252126" "00000149" "30" "11121" "22" "11121" "22" "c.11121+22A>G" "r.(=)" "p.(=)" "" "" "0000252127" "00000149" "30" "11757" "30" "11757" "30" "c.11757+30A>G" "r.(=)" "p.(=)" "" "" "0000252128" "00000149" "30" "12120" "104" "12120" "104" "c.12120+104A>G" "r.(=)" "p.(=)" "" "" "0000252129" "00000149" "30" "12285" "120" "12285" "120" "c.12285+120A>C" "r.(=)" "p.(=)" "" "" "0000252130" "00000149" "30" "13232" "-120" "13232" "-120" "c.13232-120A>G" "r.(=)" "p.(=)" "" "" "0000252131" "00000149" "30" "13232" "-7" "13232" "-7" "c.13232-7A>G" "r.(=)" "p.(=)" "" "" "0000252132" "00000149" "30" "13433" "29" "13433" "29" "c.13433+29A>G" "r.(=)" "p.(=)" "" "" "0000252133" "00000149" "30" "14517" "18" "14517" "18" "c.14517+18A>G" "r.(=)" "p.(=)" "" "" "0000252134" "00000149" "30" "16368" "40" "16368" "40" "c.16368+40A>G" "r.(=)" "p.(=)" "" "" "0000252135" "00000149" "30" "16368" "57" "16368" "57" "c.16368+57A>G" "r.(=)" "p.(=)" "" "" "0000252136" "00000149" "30" "17857" "-24" "17857" "-24" "c.17857-24A>T" "r.(=)" "p.(=)" "" "" "0000252677" "00000149" "50" "13382" "0" "13382" "0" "c.13382A>G" "r.(?)" "p.(His4461Arg)" "" "" "0000252711" "00000149" "50" "16262" "0" "16262" "0" "c.16262A>G" "r.(?)" "p.(Lys5421Arg)" "" "" "0000253059" "00000149" "10" "10769" "9" "10769" "9" "c.10769+9A>G" "r.(=)" "p.(=)" "" "" "0000253349" "00000149" "10" "9366" "0" "9366" "0" "c.9366A>G" "r.(?)" "p.(Thr3122=)" "" "" "0000253964" "00000149" "30" "8691" "0" "8691" "0" "c.8691A>C" "r.(?)" "p.(Glu2897Asp)" "" "" "0000253965" "00000149" "30" "4939" "0" "4939" "0" "c.4939A>G" "r.(?)" "p.(Ile1647Val)" "" "" "0000253973" "00000149" "30" "3559" "0" "3559" "0" "c.3559A>G" "r.(?)" "p.(Ile1187Val)" "" "" "0000254006" "00000149" "30" "3191" "0" "3191" "0" "c.3191A>C" "r.(?)" "p.(Glu1064Ala)" "" "" "0000254135" "00000149" "30" "18273" "0" "18273" "0" "c.18273A>G" "r.(?)" "p.(Ala6091=)" "" "" "0000254158" "00000149" "30" "17017" "0" "17017" "0" "c.17017A>G" "r.(?)" "p.(Lys5673Glu)" "" "" "0000254428" "00000149" "30" "87" "0" "87" "0" "c.87A>T" "r.(?)" "p.(Gly29=)" "" "" "0000254454" "00000149" "30" "5576" "0" "5576" "0" "c.5576A>G" "r.(?)" "p.(His1859Arg)" "" "" "0000254514" "00000149" "30" "6994" "0" "6994" "0" "c.6994A>T" "r.(?)" "p.(Ile2332Phe)" "" "" "0000254540" "00000149" "30" "10126" "0" "10126" "0" "c.10126A>G" "r.(?)" "p.(Ile3376Val)" "" "" "0000254545" "00000149" "30" "10906" "0" "10906" "0" "c.10906A>G" "r.(?)" "p.(Ile3636Val)" "" "" "0000254683" "00000149" "30" "1086" "0" "1086" "0" "c.1086A>G" "r.(?)" "p.(Leu362=)" "" "" "0000254685" "00000149" "30" "11019" "0" "11019" "0" "c.11019A>G" "r.(?)" "p.(Leu3673=)" "" "" "0000254795" "00000149" "30" "9083" "0" "9083" "0" "c.9083A>G" "r.(?)" "p.(Asn3028Ser)" "" "" "0000255085" "00000149" "30" "10839" "0" "10839" "0" "c.10839A>T" "r.(?)" "p.(Thr3613=)" "" "" "0000255233" "00000149" "30" "12850" "-4" "12850" "-4" "c.12850-4A>T" "r.spl?" "p.?" "" "" "0000255891" "00000149" "50" "16208" "0" "16208" "0" "c.16208A>T" "r.(?)" "p.(Asp5403Val)" "" "" "0000256027" "00000149" "50" "6559" "0" "6559" "0" "c.6559A>G" "r.(?)" "p.(Ile2187Val)" "" "" "0000256075" "00000149" "50" "11266" "0" "11266" "0" "c.11266A>G" "r.(?)" "p.(Ile3756Val)" "" "" "0000256396" "00000149" "50" "13562" "0" "13562" "0" "c.13562A>C" "r.(?)" "p.(Asn4521Thr)" "" "" "0000256441" "00000149" "50" "1526" "0" "1526" "0" "c.1526A>G" "r.(?)" "p.(Gln509Arg)" "" "" "0000256540" "00000149" "50" "5902" "0" "5902" "0" "c.5902A>G" "r.(?)" "p.(Thr1968Ala)" "" "" "0000256640" "00000149" "50" "3509" "0" "3509" "0" "c.3509A>G" "r.(?)" "p.(Tyr1170Cys)" "" "" "0000257374" "00000149" "10" "10260" "0" "10260" "0" "c.10260C>T" "r.(?)" "p.(Phe3420=)" "" "" "0000257375" "00000149" "30" "1033" "0" "1033" "0" "c.1033C>A" "r.(?)" "p.(Gln345Lys)" "" "" "0000257376" "00000149" "10" "10796" "0" "10796" "0" "c.10796G>C" "r.(?)" "p.(Gly3599Ala)" "" "" "0000257377" "00000149" "50" "10820" "0" "10820" "0" "c.10820T>C" "r.(?)" "p.(Val3607Ala)" "" "" "0000257378" "00000149" "10" "11378" "-20" "11378" "-20" "c.11378-20G>A" "r.(=)" "p.(=)" "" "" "0000257379" "00000149" "10" "11568" "0" "11568" "0" "c.11568T>C" "r.(?)" "p.(Val3856=)" "" "" "0000257380" "00000149" "30" "12212" "0" "12212" "0" "c.12212G>A" "r.(?)" "p.(Arg4071Gln)" "" "" "0000257381" "00000149" "10" "12527" "6" "12527" "6" "c.12527+6G>T" "r.(=)" "p.(=)" "" "" "0000257382" "00000149" "50" "13186" "0" "13186" "0" "c.13186G>A" "r.(?)" "p.(Ala4396Thr)" "" "" "0000257383" "00000149" "10" "13746" "0" "13746" "0" "c.13746T>C" "r.(?)" "p.(Phe4582=)" "" "" "0000257384" "00000149" "90" "13897" "0" "13897" "0" "c.13897C>T" "r.(?)" "p.(Gln4633Ter)" "" "" "0000257385" "00000149" "50" "14179" "0" "14179" "0" "c.14179G>C" "r.(?)" "p.(Glu4727Gln)" "" "" "0000257386" "00000149" "30" "14320" "0" "14320" "0" "c.14320C>T" "r.(?)" "p.(Leu4774Phe)" "" "" "0000257387" "00000149" "10" "14432" "0" "14432" "0" "c.14432C>A" "r.(?)" "p.(Pro4811Gln)" "" "" "0000257388" "00000149" "50" "16472" "0" "16472" "0" "c.16472G>A" "r.(?)" "p.(Ser5491Asn)" "" "" "0000257389" "00000149" "10" "1776" "0" "1776" "0" "c.1776C>A" "r.(?)" "p.(Val592=)" "" "" "0000257390" "00000149" "10" "17856" "11" "17856" "11" "c.17856+11G>A" "r.(=)" "p.(=)" "" "" "0000257391" "00000149" "10" "18209" "0" "18209" "0" "c.18209C>T" "r.(?)" "p.(Thr6070Met)" "" "" "0000257392" "00000149" "30" "1837" "0" "1837" "0" "c.1837C>A" "r.(?)" "p.(Gln613Lys)" "" "" "0000257394" "00000149" "90" "1953" "0" "1954" "0" "c.1953_1954del" "r.(?)" "p.(Glu651AspfsTer13)" "" "" "0000257395" "00000149" "50" "2261" "0" "2261" "0" "c.2261T>C" "r.(?)" "p.(Val754Ala)" "" "" "0000257396" "00000149" "10" "23" "-13" "23" "-13" "c.23-13C>G" "r.(=)" "p.(=)" "" "" "0000257397" "00000149" "10" "2898" "8" "2898" "8" "c.2898+8T>C" "r.(=)" "p.(=)" "" "" "0000257398" "00000149" "50" "3151" "0" "3151" "0" "c.3151G>T" "r.(?)" "p.(Asp1051Tyr)" "" "" "0000257399" "00000149" "50" "3212" "0" "3212" "0" "c.3212G>A" "r.(?)" "p.(Ser1071Asn)" "" "" "0000257400" "00000149" "10" "3482" "0" "3482" "0" "c.3482C>G" "r.(?)" "p.(Ser1161Cys)" "" "" "0000257401" "00000149" "10" "3885" "0" "3885" "0" "c.3885T>G" "r.(?)" "p.(Gly1295=)" "" "" "0000257402" "00000149" "90" "4108" "0" "4108" "0" "c.4108T>G" "r.(?)" "p.(Phe1370Val)" "" "" "0000257403" "00000149" "30" "4128" "0" "4128" "0" "c.4128C>T" "r.(?)" "p.(Asp1376=)" "" "" "0000257404" "00000149" "30" "4214" "0" "4214" "0" "c.4214C>T" "r.(?)" "p.(Ser1405Phe)" "" "" "0000257405" "00000149" "50" "4666" "0" "4666" "0" "c.4666G>A" "r.(?)" "p.(Glu1556Lys)" "" "" "0000257406" "00000149" "90" "4666" "0" "4666" "0" "c.4666G>T" "r.(?)" "p.(Glu1556Ter)" "" "" "0000257407" "00000149" "10" "5221" "0" "5221" "0" "c.5221T>C" "r.(?)" "p.(Leu1741=)" "" "" "0000257409" "00000149" "10" "5830" "0" "5830" "0" "c.5830G>A" "r.(?)" "p.(Asp1944Asn)" "" "" "0000257410" "00000149" "50" "6086" "0" "6086" "0" "c.6086C>T" "r.(?)" "p.(Pro2029Leu)" "" "" "0000257411" "00000149" "10" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Gly2045Arg)" "" "" "0000257412" "00000149" "10" "6187" "0" "6187" "0" "c.6187T>C" "r.(?)" "p.(Leu2063=)" "" "" "0000257413" "00000149" "10" "6318" "0" "6318" "0" "c.6318G>A" "r.(?)" "p.(Ala2106=)" "" "" "0000257414" "00000149" "10" "6383" "0" "6383" "0" "c.6383G>A" "r.(?)" "p.(Arg2128Gln)" "" "" "0000257415" "00000149" "10" "6608" "0" "6608" "0" "c.6608T>C" "r.(?)" "p.(Val2203Ala)" "" "" "0000257416" "00000149" "10" "6951" "13" "6951" "13" "c.6951+13G>A" "r.(=)" "p.(=)" "" "" "0000257417" "00000149" "10" "6975" "0" "6975" "0" "c.6975T>C" "r.(?)" "p.(Asp2325=)" "" "" "0000257418" "00000149" "10" "7582" "0" "7582" "0" "c.7582C>T" "r.(?)" "p.(Pro2528Ser)" "" "" "0000257419" "00000149" "50" "7735" "0" "7735" "0" "c.7735G>A" "r.(?)" "p.(Val2579Met)" "" "" "0000257420" "00000149" "10" "8490" "0" "8490" "0" "c.8490T>C" "r.(?)" "p.(Leu2830=)" "" "" "0000257421" "00000149" "10" "8730" "21" "8730" "21" "c.8730+21dup" "r.(=)" "p.(=)" "" "" "0000257422" "00000149" "10" "8825" "-19" "8825" "-19" "c.8825-19T>C" "r.(=)" "p.(=)" "" "" "0000257423" "00000149" "10" "9213" "0" "9213" "0" "c.9213C>T" "r.(?)" "p.(Asp3071=)" "" "" "0000257424" "00000149" "50" "9463" "0" "9463" "0" "c.9463G>A" "r.(?)" "p.(Ala3155Thr)" "" "" "0000258730" "00000149" "10" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Gly2045Arg)" "" "" "0000258963" "00000149" "10" "10411" "0" "10411" "0" "c.10411G>A" "r.(?)" "p.(Glu3471Lys)" "" "" "0000258964" "00000149" "10" "10577" "0" "10577" "0" "c.10577T>C" "r.(?)" "p.(Met3526Thr)" "" "" "0000258965" "00000149" "10" "11581" "-3" "11581" "-3" "c.11581-3dup" "r.spl?" "p.?" "" "" "0000258966" "00000149" "10" "16279" "0" "16279" "0" "c.16279G>A" "r.(?)" "p.(Val5427Met)" "" "" "0000258968" "00000149" "10" "18625" "-7" "18625" "-7" "c.18625-7T>C" "r.(=)" "p.(=)" "" "" "0000258969" "00000149" "10" "18741" "0" "18741" "0" "c.18741G>A" "r.(?)" "p.(Gly6247=)" "" "" "0000258970" "00000149" "10" "2241" "-19" "2241" "-19" "c.2241-19G>T" "r.(=)" "p.(=)" "" "" "0000258971" "00000149" "10" "2367" "8" "2367" "8" "c.2367+8C>T" "r.(=)" "p.(=)" "" "" "0000258972" "00000149" "10" "2553" "11" "2553" "11" "c.2553+11T>A" "r.(=)" "p.(=)" "" "" "0000258973" "00000149" "10" "3279" "0" "3279" "0" "c.3279G>T" "r.(?)" "p.(Leu1093Phe)" "" "" "0000258974" "00000149" "10" "5851" "0" "5851" "0" "c.5851G>A" "r.(?)" "p.(Val1951Ile)" "" "" "0000258975" "00000149" "10" "6012" "0" "6012" "0" "c.6012G>T" "r.(?)" "p.(Leu2004Phe)" "" "" "0000258976" "00000149" "10" "7179" "0" "7179" "0" "c.7179C>T" "r.(?)" "p.(Asp2393=)" "" "" "0000258977" "00000149" "10" "8538" "0" "8538" "0" "c.8538T>G" "r.(?)" "p.(Leu2846=)" "" "" "0000258978" "00000149" "10" "9743" "0" "9743" "0" "c.9743G>A" "r.(?)" "p.(Gly3248Asp)" "" "" "0000259312" "00000149" "30" "17856" "11" "17856" "11" "c.17856+11G>A" "r.(=)" "p.(=)" "" "" "0000259313" "00000149" "30" "5221" "0" "5221" "0" "c.5221T>C" "r.(?)" "p.(Leu1741=)" "" "" "0000259314" "00000149" "30" "7582" "0" "7582" "0" "c.7582C>T" "r.(?)" "p.(Pro2528Ser)" "" "" "0000259315" "00000149" "30" "9213" "0" "9213" "0" "c.9213C>T" "r.(?)" "p.(Asp3071=)" "" "" "0000259430" "00000149" "30" "10936" "0" "10936" "0" "c.10936T>C" "r.(?)" "p.(Ser3646Pro)" "" "" "0000259431" "00000149" "30" "14309" "0" "14309" "0" "c.14309G>A" "r.(?)" "p.(Arg4770His)" "" "" "0000259432" "00000149" "30" "18879" "0" "18879" "0" "c.18879C>T" "r.(?)" "p.(Ile6293=)" "" "" "0000259433" "00000149" "30" "5785" "0" "5785" "0" "c.5785G>T" "r.(?)" "p.(Ala1929Ser)" "" "" "0000259434" "00000149" "30" "8113" "0" "8113" "0" "c.8113G>C" "r.(?)" "p.(Val2705Leu)" "" "" "0000259634" "00000149" "50" "14719" "0" "14719" "0" "c.14719G>T" "r.(?)" "p.(Val4907Phe)" "" "" "0000260615" "00000149" "30" "10054" "-33" "10054" "-33" "c.10054-33C>T" "r.(=)" "p.(=)" "" "" "0000260616" "00000149" "30" "10427" "-79" "10427" "-79" "c.10427-79T>A" "r.(=)" "p.(=)" "" "" "0000260617" "00000149" "30" "11390" "0" "11390" "0" "c.11390C>T" "r.(?)" "p.(Thr3797Ile)" "" "" "0000260618" "00000149" "30" "12349" "0" "12349" "0" "c.12349C>T" "r.(?)" "p.(Arg4117Cys)" "" "" "0000260619" "00000149" "30" "12666" "37" "12666" "37" "c.12666+37T>C" "r.(=)" "p.(=)" "" "" "0000260620" "00000149" "30" "13082" "52" "13082" "55" "c.13082+52_13082+55del" "r.(=)" "p.(=)" "" "" "0000260621" "00000149" "30" "13082" "52" "13082" "52" "c.13082+52G>A" "r.(=)" "p.(=)" "" "" "0000260622" "00000149" "30" "13496" "0" "13496" "0" "c.13496G>A" "r.(?)" "p.(Arg4499His)" "" "" "0000260623" "00000149" "30" "15169" "0" "15169" "0" "c.15169C>T" "r.(?)" "p.(Pro5057Ser)" "" "" "0000260624" "00000149" "30" "16196" "47" "16196" "47" "c.16196+47G>A" "r.(=)" "p.(=)" "" "" "0000260625" "00000149" "30" "16197" "-31" "16197" "-31" "c.16197-31G>T" "r.(=)" "p.(=)" "" "" "0000260626" "00000149" "10" "16949" "0" "16949" "0" "c.16949C>G" "r.(?)" "p.(Thr5650Ser)" "" "" "0000260627" "00000149" "30" "17974" "-83" "17974" "-83" "c.17974-83G>A" "r.(=)" "p.(=)" "" "" "0000260628" "00000149" "30" "18625" "-45" "18625" "-45" "c.18625-45C>G" "r.(=)" "p.(=)" "" "" "0000260629" "00000149" "30" "23" "-130" "23" "-130" "c.23-130G>A" "r.(=)" "p.(=)" "" "" "0000260630" "00000149" "30" "2740" "0" "2740" "0" "c.2740T>C" "r.(?)" "p.(Tyr914His)" "" "" "0000260631" "00000149" "10" "3279" "0" "3279" "0" "c.3279G>T" "r.(?)" "p.(Leu1093Phe)" "" "" "0000260632" "00000149" "30" "5282" "0" "5282" "0" "c.5282C>G" "r.(?)" "p.(Ser1761Cys)" "" "" "0000260633" "00000149" "10" "5780" "0" "5780" "0" "c.5780C>T" "r.(?)" "p.(Thr1927Met)" "" "" "0000260634" "00000149" "30" "5785" "0" "5785" "0" "c.5785G>T" "r.(?)" "p.(Ala1929Ser)" "" "" "0000260635" "00000149" "10" "5851" "0" "5851" "0" "c.5851G>A" "r.(?)" "p.(Val1951Ile)" "" "" "0000260636" "00000149" "30" "6144" "0" "6144" "0" "c.6144T>C" "r.(?)" "p.(Leu2048=)" "" "" "0000260637" "00000149" "10" "6952" "-10" "6952" "-10" "c.6952-10G>A" "r.(=)" "p.(=)" "" "" "0000260638" "00000149" "30" "8100" "0" "8100" "0" "c.8100T>C" "r.(?)" "p.(Asn2700=)" "" "" "0000260639" "00000149" "10" "8567" "-13" "8567" "-13" "c.8567-13C>T" "r.(=)" "p.(=)" "" "" "0000260640" "00000149" "30" "8779" "0" "8779" "0" "c.8779G>A" "r.(?)" "p.(Val2927Ile)" "" "" "0000260641" "00000149" "30" "8904" "-48" "8904" "-48" "c.8904-48G>A" "r.(=)" "p.(=)" "" "" "0000260642" "00000149" "10" "9280" "0" "9280" "0" "c.9280G>A" "r.(?)" "p.(Val3094Ile)" "" "" "0000262010" "00000149" "30" "10149" "0" "10149" "0" "c.10149C>T" "r.(?)" "p.(Ser3383=)" "" "" "0000262011" "00000149" "30" "10260" "0" "10260" "0" "c.10260C>T" "r.(?)" "p.(Phe3420=)" "" "" "0000262012" "00000149" "30" "10266" "0" "10266" "0" "c.10266C>G" "r.(?)" "p.(Ala3422=)" "" "" "0000262013" "00000149" "30" "10339" "0" "10339" "0" "c.10339G>A" "r.(?)" "p.(Glu3447Lys)" "" "" "0000262014" "00000149" "30" "1056" "0" "1056" "0" "c.1056G>A" "r.(?)" "p.(Pro352=)" "" "" "0000262015" "00000149" "30" "1131" "0" "1131" "0" "c.1131T>G" "r.(?)" "p.(Ser377=)" "" "" "0000262017" "00000149" "30" "12591" "0" "12591" "0" "c.12591C>T" "r.(?)" "p.(Ser4197=)" "" "" "0000262018" "00000149" "50" "12598" "0" "12598" "0" "c.12598G>A" "r.(?)" "p.(Glu4200Lys)" "" "" "0000262019" "00000149" "30" "1497" "0" "1497" "0" "c.1497C>T" "r.(?)" "p.(Ser499=)" "" "" "0000262020" "00000149" "30" "16699" "0" "16699" "0" "c.16699G>A" "r.(?)" "p.(Val5567Ile)" "" "" "0000262021" "00000149" "30" "1776" "0" "1776" "0" "c.1776C>A" "r.(?)" "p.(Val592=)" "" "" "0000262022" "00000149" "30" "17880" "0" "17880" "0" "c.17880C>T" "r.(?)" "p.(Tyr5960=)" "" "" "0000262023" "00000149" "30" "18433" "-4" "18433" "-4" "c.18433-4G>T" "r.spl?" "p.?" "" "" "0000262024" "00000149" "30" "18516" "0" "18516" "0" "c.18516T>C" "r.(?)" "p.(Asn6172=)" "" "" "0000262025" "00000149" "30" "18894" "0" "18894" "0" "c.18894G>A" "r.(?)" "p.(Arg6298=)" "" "" "0000262026" "00000149" "30" "3246" "0" "3246" "0" "c.3246G>A" "r.(?)" "p.(Pro1082=)" "" "" "0000262027" "00000149" "30" "3255" "0" "3255" "0" "c.3255T>C" "r.(?)" "p.(Asp1085=)" "" "" "0000262028" "00000149" "10" "3338" "0" "3338" "0" "c.3338C>A" "r.(?)" "p.(Ala1113Asp)" "" "" "0000262029" "00000149" "30" "3847" "0" "3847" "0" "c.3847C>T" "r.(?)" "p.(Leu1283=)" "" "" "0000262030" "00000149" "30" "477" "0" "477" "0" "c.477G>A" "r.(?)" "p.(Glu159=)" "" "" "0000262031" "00000149" "30" "4864" "0" "4864" "0" "c.4864T>C" "r.(?)" "p.(Tyr1622His)" "" "" "0000262032" "00000149" "30" "5221" "0" "5221" "0" "c.5221T>C" "r.(?)" "p.(Leu1741=)" "" "" "0000262033" "00000149" "30" "6187" "0" "6187" "0" "c.6187T>C" "r.(?)" "p.(Leu2063=)" "" "" "0000262034" "00000149" "50" "7135" "0" "7135" "0" "c.7135G>C" "r.(?)" "p.(Gly2379Arg)" "" "" "0000262035" "00000149" "30" "7179" "0" "7179" "0" "c.7179C>T" "r.(?)" "p.(Asp2393=)" "" "" "0000262036" "00000149" "30" "7806" "0" "7806" "0" "c.7806C>G" "r.(?)" "p.(Pro2602=)" "" "" "0000262038" "00000149" "50" "8815" "0" "8815" "0" "c.8815C>T" "r.(?)" "p.(Pro2939Ser)" "" "" "0000262039" "00000149" "30" "9213" "0" "9213" "0" "c.9213C>T" "r.(?)" "p.(Asp3071=)" "" "" "0000262040" "00000149" "30" "9444" "0" "9444" "0" "c.9444C>T" "r.(?)" "p.(Phe3148=)" "" "" "0000262041" "00000149" "50" "9701" "0" "9701" "0" "c.9701C>T" "r.(?)" "p.(Ala3234Val)" "" "" "0000277453" "00000149" "10" "10936" "0" "10936" "0" "c.10936T>C" "r.(?)" "p.(Ser3646Pro)" "" "" "0000277454" "00000149" "30" "12181" "0" "12181" "0" "c.12181G>T" "r.(?)" "p.(Val4061Phe)" "" "" "0000277455" "00000149" "50" "15338" "0" "15338" "0" "c.15338T>G" "r.(?)" "p.(Leu5113Arg)" "" "" "0000277456" "00000149" "30" "15829" "0" "15829" "0" "c.15829C>T" "r.(?)" "p.(Arg5277Cys)" "" "" "0000277457" "00000149" "10" "16079" "-11" "16079" "-11" "c.16079-11C>G" "r.(=)" "p.(=)" "" "" "0000277458" "00000149" "30" "16313" "0" "16313" "0" "c.16313C>T" "r.(?)" "p.(Thr5438Ile)" "" "" "0000277462" "00000149" "10" "18433" "-6" "18433" "-5" "c.18433-6_18433-5del" "r.spl?" "p.?" "" "" "0000277463" "00000149" "10" "18433" "-5" "18433" "-5" "c.18433-5del" "r.spl?" "p.?" "" "" "0000277465" "00000149" "30" "2759" "0" "2759" "0" "c.2759G>A" "r.(?)" "p.(Arg920Gln)" "" "" "0000277466" "00000149" "30" "5525" "-7" "5525" "-7" "c.5525-7C>T" "r.(=)" "p.(=)" "" "" "0000277467" "00000149" "10" "6095" "0" "6095" "0" "c.6095C>T" "r.(?)" "p.(Ala2032Val)" "" "" "0000277470" "00000149" "10" "8730" "20" "8730" "21" "c.8730+20_8730+21dup" "r.(=)" "p.(=)" "" "" "0000277471" "00000149" "10" "8730" "21" "8730" "21" "c.8730+21del" "r.(=)" "p.(=)" "" "" "0000277473" "00000149" "30" "8824" "10" "8824" "10" "c.8824+10G>A" "r.(=)" "p.(=)" "" "" "0000277474" "00000149" "10" "9607" "0" "9607" "0" "c.9607T>A" "r.(?)" "p.(Ser3203Thr)" "" "" "0000284790" "00000149" "30" "-47" "0" "-47" "0" "c.-47G>C" "r.(?)" "p.(=)" "" "" "0000284791" "00000149" "30" "18997" "0" "18997" "0" "c.*76C>T" "r.(=)" "p.(=)" "" "" "0000284792" "00000149" "30" "10039" "0" "10039" "0" "c.10039T>C" "r.(?)" "p.(Phe3347Leu)" "" "" "0000284793" "00000149" "30" "10161" "105" "10161" "105" "c.10161+105C>A" "r.(=)" "p.(=)" "" "" "0000284794" "00000149" "10" "10161" "26" "10161" "26" "c.10161+26G>T" "r.(=)" "p.(=)" "" "" "0000284795" "00000149" "30" "10161" "35" "10161" "35" "c.10161+35del" "r.(=)" "p.(=)" "" "" "0000284796" "00000149" "30" "10260" "0" "10260" "0" "c.10260C>T" "r.(?)" "p.(Phe3420=)" "" "" "0000284797" "00000149" "30" "10426" "52" "10426" "52" "c.10426+52C>G" "r.(=)" "p.(=)" "" "" "0000284798" "00000149" "10" "10427" "-47" "10427" "-47" "c.10427-47T>C" "r.(=)" "p.(=)" "" "" "0000284799" "00000149" "30" "10427" "-83" "10427" "-81" "c.10427-83_10427-81del" "r.(=)" "p.(=)" "" "" "0000284800" "00000149" "30" "10549" "118" "10549" "119" "c.10549+118_10549+119del" "r.(=)" "p.(=)" "" "" "0000284801" "00000149" "30" "10549" "119" "10549" "119" "c.10549+119del" "r.(=)" "p.(=)" "" "" "0000284802" "00000149" "30" "10550" "-104" "10550" "-104" "c.10550-104G>A" "r.(=)" "p.(=)" "" "" "0000284803" "00000149" "30" "10550" "-157" "10550" "-157" "c.10550-157C>T" "r.(=)" "p.(=)" "" "" "0000284804" "00000149" "10" "10577" "0" "10577" "0" "c.10577T>C" "r.(?)" "p.(Met3526Thr)" "" "" "0000284805" "00000149" "30" "10769" "71" "10769" "71" "c.10769+71C>A" "r.(=)" "p.(=)" "" "" "0000284806" "00000149" "30" "10770" "-111" "10770" "-111" "c.10770-111T>C" "r.(=)" "p.(=)" "" "" "0000284807" "00000149" "30" "10796" "0" "10796" "0" "c.10796G>C" "r.(?)" "p.(Gly3599Ala)" "" "" "0000284808" "00000149" "30" "10936" "0" "10936" "0" "c.10936T>C" "r.(?)" "p.(Ser3646Pro)" "" "" "0000284809" "00000149" "30" "10975" "-112" "10975" "-112" "c.10975-112C>A" "r.(=)" "p.(=)" "" "" "0000284810" "00000149" "30" "10975" "-178" "10975" "-177" "c.10975-178_10975-177del" "r.(=)" "p.(=)" "" "" "0000284811" "00000149" "10" "10975" "-72" "10975" "-72" "c.10975-72C>T" "r.(=)" "p.(=)" "" "" "0000284812" "00000149" "10" "11378" "-158" "11378" "-158" "c.11378-158G>A" "r.(=)" "p.(=)" "" "" "0000284813" "00000149" "30" "11378" "-20" "11378" "-20" "c.11378-20G>A" "r.(=)" "p.(=)" "" "" "0000284814" "00000149" "30" "11472" "0" "11472" "0" "c.11472G>A" "r.(?)" "p.(Leu3824=)" "" "" "0000284815" "00000149" "10" "11481" "0" "11481" "0" "c.11481T>C" "r.(?)" "p.(Asp3827=)" "" "" "0000284816" "00000149" "30" "11580" "50" "11580" "50" "c.11580+50T>G" "r.(=)" "p.(=)" "" "" "0000284819" "00000149" "30" "12120" "54" "12120" "54" "c.12120+54T>C" "r.(=)" "p.(=)" "" "" "0000284820" "00000149" "30" "12121" "-21" "12121" "-21" "c.12121-21del" "r.(=)" "p.(=)" "" "" "0000284821" "00000149" "30" "12121" "-30" "12121" "-30" "c.12121-30G>T" "r.(=)" "p.(=)" "" "" "0000284822" "00000149" "30" "12121" "-31" "12121" "-31" "c.12121-31dup" "r.(=)" "p.(=)" "" "" "0000284823" "00000149" "30" "12121" "-31" "12121" "-31" "c.12121-31del" "r.(=)" "p.(=)" "" "" "0000284824" "00000149" "30" "12181" "0" "12181" "0" "c.12181G>T" "r.(?)" "p.(Val4061Phe)" "" "" "0000284826" "00000149" "10" "12403" "41" "12403" "41" "c.12403+41C>T" "r.(=)" "p.(=)" "" "" "0000284827" "00000149" "10" "12404" "-149" "12404" "-149" "c.12404-149G>A" "r.(=)" "p.(=)" "" "" "0000284828" "00000149" "30" "12404" "-59" "12404" "-59" "c.12404-59C>T" "r.(=)" "p.(=)" "" "" "0000284829" "00000149" "30" "12527" "6" "12527" "6" "c.12527+6G>T" "r.(=)" "p.(=)" "" "" "0000284830" "00000149" "30" "12592" "0" "12592" "0" "c.12592G>A" "r.(?)" "p.(Val4198Met)" "" "" "0000284831" "00000149" "30" "12666" "60" "12666" "60" "c.12666+60G>A" "r.(=)" "p.(=)" "" "" "0000284833" "00000149" "30" "12667" "-143" "12667" "-143" "c.12667-143T>C" "r.(=)" "p.(=)" "" "" "0000284834" "00000149" "10" "12850" "-31" "12850" "-31" "c.12850-31C>T" "r.(=)" "p.(=)" "" "" "0000284835" "00000149" "10" "12927" "0" "12927" "0" "c.12927G>A" "r.(?)" "p.(Ala4309=)" "" "" "0000284836" "00000149" "30" "13037" "0" "13037" "0" "c.13037C>T" "r.(?)" "p.(Pro4346Leu)" "" "" "0000284837" "00000149" "30" "13083" "-219" "13083" "-219" "c.13083-219G>A" "r.(=)" "p.(=)" "" "" "0000284838" "00000149" "30" "13083" "-68" "13083" "-68" "c.13083-68G>A" "r.(=)" "p.(=)" "" "" "0000284839" "00000149" "10" "13186" "0" "13186" "0" "c.13186G>A" "r.(?)" "p.(Ala4396Thr)" "" "" "0000284840" "00000149" "30" "13590" "0" "13590" "0" "c.13590C>T" "r.(?)" "p.(Pro4530=)" "" "" "0000284841" "00000149" "10" "13654" "-52" "13654" "-52" "c.13654-52G>A" "r.(=)" "p.(=)" "" "" "0000284842" "00000149" "30" "13933" "0" "13933" "0" "c.13933G>A" "r.(?)" "p.(Ala4645Thr)" "" "" "0000284843" "00000149" "10" "14029" "0" "14029" "0" "c.14029T>C" "r.(?)" "p.(Phe4677Leu)" "" "" "0000284844" "00000149" "30" "14043" "115" "14043" "115" "c.14043+115G>A" "r.(=)" "p.(=)" "" "" "0000284845" "00000149" "30" "14044" "-90" "14044" "-90" "c.14044-90del" "r.(=)" "p.(=)" "" "" "0000284846" "00000149" "30" "14044" "-98" "14044" "-98" "c.14044-98T>A" "r.(=)" "p.(=)" "" "" "0000284847" "00000149" "10" "14056" "0" "14056" "0" "c.14056T>A" "r.(?)" "p.(Leu4686Ile)" "" "" "0000284848" "00000149" "10" "14309" "0" "14309" "0" "c.14309G>A" "r.(?)" "p.(Arg4770His)" "" "" "0000284849" "00000149" "30" "14373" "0" "14373" "0" "c.14373T>A" "r.(?)" "p.(Ala4791=)" "" "" "0000284850" "00000149" "30" "14517" "61" "14517" "61" "c.14517+61G>A" "r.(=)" "p.(=)" "" "" "0000284851" "00000149" "30" "14518" "-6" "14518" "-6" "c.14518-6T>C" "r.(=)" "p.(=)" "" "" "0000284852" "00000149" "30" "14691" "0" "14691" "0" "c.14691C>T" "r.(?)" "p.(Leu4897=)" "" "" "0000284853" "00000149" "30" "14761" "0" "14761" "0" "c.14761G>A" "r.(?)" "p.(Ala4921Thr)" "" "" "0000284854" "00000149" "30" "14837" "-5" "14837" "-5" "c.14837-5T>C" "r.spl?" "p.?" "" "" "0000284855" "00000149" "30" "14972" "133" "14972" "133" "c.14972+133C>T" "r.(=)" "p.(=)" "" "" "0000284856" "00000149" "10" "14972" "155" "14972" "155" "c.14972+155G>T" "r.(=)" "p.(=)" "" "" "0000284857" "00000149" "30" "14972" "49" "14972" "49" "c.14972+49G>A" "r.(=)" "p.(=)" "" "" "0000284858" "00000149" "30" "14973" "-58" "14973" "-58" "c.14973-58C>T" "r.(=)" "p.(=)" "" "" "0000284859" "00000149" "30" "15829" "0" "15829" "0" "c.15829C>T" "r.(?)" "p.(Arg5277Cys)" "" "" "0000284860" "00000149" "10" "16079" "-11" "16079" "-11" "c.16079-11C>G" "r.(=)" "p.(=)" "" "" "0000284861" "00000149" "30" "16079" "-5" "16079" "-5" "c.16079-5T>C" "r.spl?" "p.?" "" "" "0000284862" "00000149" "30" "16079" "-81" "16079" "-81" "c.16079-81T>A" "r.(=)" "p.(=)" "" "" "0000284863" "00000149" "10" "16196" "40" "16196" "40" "c.16196+40T>C" "r.(=)" "p.(=)" "" "" "0000284865" "00000149" "10" "16368" "137" "16368" "137" "c.16368+137T>C" "r.(=)" "p.(=)" "" "" "0000284866" "00000149" "10" "1652" "0" "1652" "0" "c.1652T>C" "r.(?)" "p.(Val551Ala)" "" "" "0000284867" "00000149" "10" "16612" "-65" "16612" "-65" "c.16612-65G>C" "r.(=)" "p.(=)" "" "" "0000284868" "00000149" "30" "17020" "-91" "17020" "-91" "c.17020-91T>C" "r.(=)" "p.(=)" "" "" "0000284869" "00000149" "30" "17204" "98" "17204" "98" "c.17204+98T>G" "r.(=)" "p.(=)" "" "" "0000284870" "00000149" "30" "17455" "-72" "17455" "-72" "c.17455-72G>C" "r.(=)" "p.(=)" "" "" "0000284871" "00000149" "30" "17755" "77" "17755" "77" "c.17755+77C>A" "r.(=)" "p.(=)" "" "" "0000284872" "00000149" "10" "17756" "-121" "17756" "-121" "c.17756-121G>T" "r.(=)" "p.(=)" "" "" "0000284873" "00000149" "30" "17856" "11" "17856" "11" "c.17856+11G>A" "r.(=)" "p.(=)" "" "" "0000284874" "00000149" "10" "17857" "-6" "17857" "-6" "c.17857-6T>C" "r.(=)" "p.(=)" "" "" "0000284875" "00000149" "30" "17864" "0" "17864" "0" "c.17864T>C" "r.(?)" "p.(Phe5955Ser)" "" "" "0000284876" "00000149" "30" "18152" "55" "18152" "55" "c.18152+55C>T" "r.(=)" "p.(=)" "" "" "0000284877" "00000149" "10" "18311" "-6" "18311" "-6" "c.18311-6T>C" "r.(=)" "p.(=)" "" "" "0000284878" "00000149" "30" "18349" "0" "18349" "0" "c.18349G>A" "r.(?)" "p.(Val6117Met)" "" "" "0000284879" "00000149" "30" "1837" "0" "1837" "0" "c.1837C>A" "r.(?)" "p.(Gln613Lys)" "" "" "0000284880" "00000149" "30" "1839" "108" "1839" "108" "c.1839+108T>G" "r.(=)" "p.(=)" "" "" "0000284881" "00000149" "10" "1839" "7" "1839" "7" "c.1839+7G>A" "r.(=)" "p.(=)" "" "" "0000284882" "00000149" "10" "18433" "-16" "18433" "-16" "c.18433-16T>C" "r.(=)" "p.(=)" "" "" "0000284883" "00000149" "30" "18433" "-5" "18433" "-5" "c.18433-5del" "r.spl?" "p.?" "" "" "0000284884" "00000149" "30" "18746" "0" "18746" "0" "c.18746T>G" "r.(?)" "p.(Leu6249Arg)" "" "" "0000284885" "00000149" "30" "18802" "44" "18802" "44" "c.18802+44C>G" "r.(=)" "p.(=)" "" "" "0000284886" "00000149" "10" "18803" "-78" "18803" "-78" "c.18803-78G>T" "r.(=)" "p.(=)" "" "" "0000284887" "00000149" "30" "2016" "135" "2016" "135" "c.2016+135C>T" "r.(=)" "p.(=)" "" "" "0000284888" "00000149" "30" "2016" "155" "2016" "155" "c.2016+155T>G" "r.(=)" "p.(=)" "" "" "0000284889" "00000149" "30" "2016" "62" "2016" "62" "c.2016+62T>A" "r.(=)" "p.(=)" "" "" "0000284890" "00000149" "30" "2016" "62" "2016" "62" "c.2016+62T>C" "r.(=)" "p.(=)" "" "" "0000284891" "00000149" "10" "207" "78" "207" "78" "c.207+78del" "r.(=)" "p.(=)" "" "" "0000284892" "00000149" "30" "207" "82" "207" "85" "c.207+82_207+85del" "r.(=)" "p.(=)" "" "" "0000284893" "00000149" "30" "2240" "139" "2240" "139" "c.2240+139C>G" "r.(=)" "p.(=)" "" "" "0000284894" "00000149" "10" "2240" "73" "2240" "73" "c.2240+73del" "r.(=)" "p.(=)" "" "" "0000284895" "00000149" "30" "2241" "-149" "2241" "-149" "c.2241-149T>A" "r.(=)" "p.(=)" "" "" "0000284896" "00000149" "30" "2241" "-30" "2241" "-30" "c.2241-30G>A" "r.(=)" "p.(=)" "" "" "0000284897" "00000149" "30" "23" "-160" "23" "-160" "c.23-160C>G" "r.(=)" "p.(=)" "" "" "0000284898" "00000149" "30" "23" "-510" "23" "-510" "c.23-510C>T" "r.(=)" "p.(=)" "" "" "0000284899" "00000149" "10" "23" "-526" "23" "-526" "c.23-526del" "r.(=)" "p.(=)" "" "" "0000284900" "00000149" "10" "23" "-591" "23" "-591" "c.23-591G>A" "r.(=)" "p.(=)" "" "" "0000284901" "00000149" "30" "23" "-657" "23" "-657" "c.23-657T>A" "r.(=)" "p.(=)" "" "" "0000284903" "00000149" "30" "2553" "11" "2553" "11" "c.2553+11T>A" "r.(=)" "p.(=)" "" "" "0000284904" "00000149" "30" "2735" "-10" "2735" "-10" "c.2735-10C>A" "r.(=)" "p.(=)" "" "" "0000284905" "00000149" "10" "3255" "0" "3255" "0" "c.3255T>C" "r.(?)" "p.(Asp1085=)" "" "" "0000284906" "00000149" "10" "327" "0" "327" "0" "c.327C>T" "r.(?)" "p.(Asp109=)" "" "" "0000284908" "00000149" "30" "3289" "36" "3289" "36" "c.3289+36T>C" "r.(=)" "p.(=)" "" "" "0000284909" "00000149" "30" "3289" "89" "3289" "89" "c.3289+89T>C" "r.(=)" "p.(=)" "" "" "0000284910" "00000149" "30" "3289" "0" "3289" "0" "c.3289G>A" "r.(?)" "p.(Gly1097Ser)" "" "" "0000284911" "00000149" "30" "3482" "0" "3482" "0" "c.3482C>G" "r.(?)" "p.(Ser1161Cys)" "" "" "0000284913" "00000149" "30" "363" "0" "363" "0" "c.363T>C" "r.(?)" "p.(Pro121=)" "" "" "0000284914" "00000149" "30" "4379" "-62" "4379" "-62" "c.4379-62C>G" "r.(=)" "p.(=)" "" "" "0000284915" "00000149" "30" "4379" "-97" "4379" "-97" "c.4379-97T>C" "r.(=)" "p.(=)" "" "" "0000284916" "00000149" "30" "454" "-182" "454" "-182" "c.454-182C>A" "r.(=)" "p.(=)" "" "" "0000284917" "00000149" "30" "4752" "19" "4752" "19" "c.4752+19G>T" "r.(=)" "p.(=)" "" "" "0000284918" "00000149" "30" "4864" "0" "4864" "0" "c.4864T>C" "r.(?)" "p.(Tyr1622His)" "" "" "0000284919" "00000149" "10" "5110" "107" "5110" "107" "c.5110+107C>T" "r.(=)" "p.(=)" "" "" "0000284920" "00000149" "10" "5110" "119" "5110" "119" "c.5110+119T>G" "r.(=)" "p.(=)" "" "" "0000284921" "00000149" "10" "5304" "0" "5304" "0" "c.5304G>A" "r.(?)" "p.(Glu1768=)" "" "" "0000284922" "00000149" "30" "5444" "-24" "5444" "-24" "c.5444-24G>T" "r.(=)" "p.(=)" "" "" "0000284923" "00000149" "30" "5444" "-84" "5444" "-84" "c.5444-84G>T" "r.(=)" "p.(=)" "" "" "0000284924" "00000149" "30" "5525" "-28" "5525" "-28" "c.5525-28T>C" "r.(=)" "p.(=)" "" "" "0000284925" "00000149" "30" "5525" "-33" "5525" "-33" "c.5525-33T>C" "r.(=)" "p.(=)" "" "" "0000284926" "00000149" "30" "5525" "-49" "5525" "-49" "c.5525-49T>A" "r.(=)" "p.(=)" "" "" "0000284927" "00000149" "10" "5525" "-7" "5525" "-7" "c.5525-7C>T" "r.(=)" "p.(=)" "" "" "0000284928" "00000149" "30" "5730" "0" "5730" "0" "c.5730T>C" "r.(?)" "p.(Asp1910=)" "" "" "0000284929" "00000149" "30" "5747" "0" "5747" "0" "c.5747C>T" "r.(?)" "p.(Thr1916Ile)" "" "" "0000284930" "00000149" "30" "5781" "0" "5781" "0" "c.5781G>A" "r.(?)" "p.(Thr1927=)" "" "" "0000284931" "00000149" "10" "581" "0" "581" "0" "c.581C>A" "r.(?)" "p.(Pro194His)" "" "" "0000284932" "00000149" "30" "6086" "0" "6086" "0" "c.6086C>T" "r.(?)" "p.(Pro2029Leu)" "" "" "0000284933" "00000149" "30" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Gly2045Arg)" "" "" "0000284934" "00000149" "30" "6229" "0" "6229" "0" "c.6229G>A" "r.(?)" "p.(Glu2077Lys)" "" "" "0000284935" "00000149" "10" "6275" "-130" "6275" "-130" "c.6275-130G>C" "r.(=)" "p.(=)" "" "" "0000284936" "00000149" "30" "6275" "-133" "6275" "-133" "c.6275-133dup" "r.(=)" "p.(=)" "" "" "0000284937" "00000149" "30" "6275" "-34" "6275" "-34" "c.6275-34T>A" "r.(=)" "p.(=)" "" "" "0000284938" "00000149" "10" "6289" "0" "6289" "0" "c.6289C>T" "r.(?)" "p.(Arg2097Cys)" "" "" "0000284940" "00000149" "30" "7079" "0" "7079" "0" "c.7079G>A" "r.(?)" "p.(Arg2360His)" "" "" "0000284941" "00000149" "30" "7133" "48" "7133" "48" "c.7133+48G>A" "r.(=)" "p.(=)" "" "" "0000284943" "00000149" "30" "7176" "0" "7176" "0" "c.7176C>T" "r.(?)" "p.(Ser2392=)" "" "" "0000284944" "00000149" "30" "7179" "0" "7179" "0" "c.7179C>T" "r.(?)" "p.(Asp2393=)" "" "" "0000284945" "00000149" "30" "746" "0" "746" "0" "c.746G>A" "r.(?)" "p.(Arg249Lys)" "" "" "0000284946" "00000149" "30" "7582" "0" "7582" "0" "c.7582C>T" "r.(?)" "p.(Pro2528Ser)" "" "" "0000284947" "00000149" "30" "7813" "0" "7813" "0" "c.7813T>G" "r.(?)" "p.(Leu2605Val)" "" "" "0000284948" "00000149" "30" "7874" "0" "7874" "0" "c.7874G>A" "r.(?)" "p.(Arg2625His)" "" "" "0000284949" "00000149" "30" "7945" "116" "7945" "116" "c.7945+116G>A" "r.(=)" "p.(=)" "" "" "0000284950" "00000149" "30" "7945" "27" "7945" "27" "c.7945+27C>T" "r.(=)" "p.(=)" "" "" "0000284951" "00000149" "30" "7945" "6" "7945" "6" "c.7945+6C>T" "r.(=)" "p.(=)" "" "" "0000284952" "00000149" "30" "7946" "-158" "7946" "-158" "c.7946-158T>C" "r.(=)" "p.(=)" "" "" "0000284953" "00000149" "10" "8286" "14" "8286" "14" "c.8286+14G>A" "r.(=)" "p.(=)" "" "" "0000284954" "00000149" "10" "8287" "-11" "8287" "-11" "c.8287-11G>C" "r.(=)" "p.(=)" "" "" "0000284955" "00000149" "10" "8407" "0" "8407" "0" "c.8407G>A" "r.(?)" "p.(Ala2803Thr)" "" "" "0000284956" "00000149" "30" "8566" "91" "8566" "91" "c.8566+91G>A" "r.(=)" "p.(=)" "" "" "0000284957" "00000149" "30" "8730" "21" "8730" "21" "c.8730+21dup" "r.(=)" "p.(=)" "" "" "0000284958" "00000149" "10" "8730" "21" "8730" "21" "c.8730+21del" "r.(=)" "p.(=)" "" "" "0000284960" "00000149" "30" "8731" "-159" "8731" "-159" "c.8731-159C>T" "r.(=)" "p.(=)" "" "" "0000284961" "00000149" "30" "8731" "-74" "8731" "-70" "c.8731-74_8731-70del" "r.(=)" "p.(=)" "" "" "0000284962" "00000149" "10" "8876" "0" "8876" "0" "c.8876G>A" "r.(?)" "p.(Arg2959Gln)" "" "" "0000284963" "00000149" "30" "9184" "111" "9184" "111" "c.9184+111G>T" "r.(=)" "p.(=)" "" "" "0000284964" "00000149" "30" "9184" "171" "9184" "171" "c.9184+171C>T" "r.(=)" "p.(=)" "" "" "0000284965" "00000149" "10" "9213" "0" "9213" "0" "c.9213C>T" "r.(?)" "p.(Asp3071=)" "" "" "0000284966" "00000149" "30" "9447" "63" "9447" "63" "c.9447+63C>G" "r.(=)" "p.(=)" "" "" "0000284967" "00000149" "30" "9552" "0" "9552" "0" "c.9552T>A" "r.(?)" "p.(Val3184=)" "" "" "0000284968" "00000149" "10" "9650" "0" "9650" "0" "c.9650C>T" "r.(?)" "p.(Ala3217Val)" "" "" "0000284969" "00000149" "30" "9749" "-122" "9749" "-122" "c.9749-122G>A" "r.(=)" "p.(=)" "" "" "0000284970" "00000149" "30" "9771" "0" "9771" "0" "c.9771C>T" "r.(?)" "p.(Ser3257=)" "" "" "0000288694" "00000149" "30" "10093" "0" "10093" "0" "c.10093T>C" "r.(?)" "p.(Tyr3365His)" "" "" "0000288695" "00000149" "30" "10550" "-7" "10550" "-7" "c.10550-7C>T" "r.(=)" "p.(=)" "" "" "0000288696" "00000149" "10" "10607" "0" "10607" "0" "c.10607G>A" "r.(?)" "p.(Arg3536His)" "" "" "0000288697" "00000149" "50" "10820" "0" "10820" "0" "c.10820T>C" "r.(?)" "p.(Val3607Ala)" "" "" "0000288698" "00000149" "30" "10936" "0" "10936" "0" "c.10936T>C" "r.(?)" "p.(Ser3646Pro)" "" "" "0000288699" "00000149" "30" "11201" "0" "11201" "0" "c.11201T>C" "r.(?)" "p.(Val3734Ala)" "" "" "0000288700" "00000149" "50" "11579" "0" "11579" "0" "c.11579C>G" "r.(?)" "p.(Pro3860Arg)" "" "" "0000288701" "00000149" "50" "11606" "0" "11606" "0" "c.11606G>T" "r.(?)" "p.(Gly3869Val)" "" "" "0000288702" "00000149" "50" "11906" "0" "11906" "0" "c.11906C>G" "r.(?)" "p.(Pro3969Arg)" "" "" "0000288703" "00000149" "50" "12379" "0" "12379" "0" "c.12379G>A" "r.(?)" "p.(Glu4127Lys)" "" "" "0000288704" "00000149" "50" "12464" "0" "12464" "0" "c.12464C>T" "r.(?)" "p.(Pro4155Leu)" "" "" "0000288705" "00000149" "30" "12527" "6" "12527" "6" "c.12527+6G>T" "r.(=)" "p.(=)" "" "" "0000288706" "00000149" "50" "12868" "0" "12868" "0" "c.12868C>T" "r.(?)" "p.(Arg4290Cys)" "" "" "0000288707" "00000149" "50" "12982" "0" "12982" "0" "c.12982G>A" "r.(?)" "p.(Glu4328Lys)" "" "" "0000288708" "00000149" "30" "13654" "-4" "13654" "-4" "c.13654-4G>A" "r.spl?" "p.?" "" "" "0000288709" "00000149" "30" "1505" "0" "1505" "0" "c.1505C>T" "r.(?)" "p.(Ala502Val)" "" "" "0000288710" "00000149" "50" "16373" "0" "16373" "0" "c.16373C>A" "r.(?)" "p.(Pro5458Gln)" "" "" "0000288711" "00000149" "50" "17108" "0" "17108" "0" "c.17108G>A" "r.(?)" "p.(Arg5703His)" "" "" "0000288712" "00000149" "50" "1718" "0" "1718" "0" "c.1718G>T" "r.(?)" "p.(Gly573Val)" "" "" "0000288713" "00000149" "10" "17626" "0" "17626" "0" "c.17626G>A" "r.(?)" "p.(Val5876Ile)" "" "" "0000288714" "00000149" "50" "17657" "0" "17657" "0" "c.17657C>A" "r.(?)" "p.(Ala5886Asp)" "" "" "0000288715" "00000149" "90" "17668" "0" "17669" "0" "c.17668_17669del" "r.(?)" "p.(Met5890ValfsTer10)" "" "" "0000288716" "00000149" "50" "17735" "0" "17735" "0" "c.17735C>G" "r.(?)" "p.(Ser5912Cys)" "" "" "0000288717" "00000149" "50" "1804" "0" "1804" "0" "c.1804G>A" "r.(?)" "p.(Ala602Thr)" "" "" "0000288718" "00000149" "50" "18209" "0" "18209" "0" "c.18209C>T" "r.(?)" "p.(Thr6070Met)" "" "" "0000288719" "00000149" "30" "1837" "0" "1837" "0" "c.1837C>A" "r.(?)" "p.(Gln613Lys)" "" "" "0000288720" "00000149" "30" "2759" "0" "2759" "0" "c.2759G>A" "r.(?)" "p.(Arg920Gln)" "" "" "0000288721" "00000149" "50" "3203" "0" "3203" "0" "c.3203G>A" "r.(?)" "p.(Arg1068Lys)" "" "" "0000288722" "00000149" "30" "3289" "0" "3289" "0" "c.3289G>A" "r.(?)" "p.(Gly1097Ser)" "" "" "0000288723" "00000149" "70" "3443" "0" "3443" "0" "c.3443G>A" "r.(?)" "p.(Gly1148Asp)" "" "" "0000288725" "00000149" "50" "4507" "0" "4507" "0" "c.4507G>A" "r.(?)" "p.(Ala1503Thr)" "" "" "0000288726" "00000149" "30" "453" "8" "453" "8" "c.453+8C>T" "r.(=)" "p.(=)" "" "" "0000288727" "00000149" "50" "4658" "0" "4658" "0" "c.4658G>A" "r.(?)" "p.(Arg1553His)" "" "" "0000288728" "00000149" "50" "5122" "0" "5122" "0" "c.5122T>C" "r.(?)" "p.(Phe1708Leu)" "" "" "0000288729" "00000149" "30" "5525" "-7" "5525" "-7" "c.5525-7C>T" "r.(=)" "p.(=)" "" "" "0000288730" "00000149" "10" "5851" "0" "5851" "0" "c.5851G>A" "r.(?)" "p.(Val1951Ile)" "" "" "0000288731" "00000149" "10" "5960" "0" "5960" "0" "c.5960C>T" "r.(?)" "p.(Pro1987Leu)" "" "" "0000288732" "00000149" "30" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Gly2045Arg)" "" "" "0000288733" "00000149" "50" "6482" "0" "6482" "0" "c.6482C>T" "r.(?)" "p.(Ala2161Val)" "" "" "0000288734" "00000149" "30" "7079" "0" "7079" "0" "c.7079G>A" "r.(?)" "p.(Arg2360His)" "" "" "0000288735" "00000149" "30" "7202" "0" "7202" "0" "c.7202T>C" "r.(?)" "p.(Met2401Thr)" "" "" "0000288736" "00000149" "30" "746" "0" "746" "0" "c.746G>A" "r.(?)" "p.(Arg249Lys)" "" "" "0000288737" "00000149" "30" "7582" "0" "7582" "0" "c.7582C>T" "r.(?)" "p.(Pro2528Ser)" "" "" "0000288738" "00000149" "30" "7874" "0" "7874" "0" "c.7874G>A" "r.(?)" "p.(Arg2625His)" "" "" "0000288739" "00000149" "10" "7945" "6" "7945" "6" "c.7945+6C>T" "r.(=)" "p.(=)" "" "" "0000288740" "00000149" "50" "853" "0" "853" "0" "c.853C>G" "r.(?)" "p.(Arg285Gly)" "" "" "0000288741" "00000149" "50" "9054" "0" "9054" "0" "c.9054T>G" "r.(?)" "p.(Phe3018Leu)" "" "" "0000288742" "00000149" "30" "9447" "6" "9447" "6" "c.9447+6G>A" "r.(=)" "p.(=)" "" "" "0000288743" "00000149" "30" "9650" "0" "9650" "0" "c.9650C>T" "r.(?)" "p.(Ala3217Val)" "" "" "0000330458" "00000149" "50" "1578" "0" "1578" "0" "c.1578G>T" "r.(?)" "p.(Gln526His)" "" "" "0000330459" "00000149" "50" "6665" "0" "6665" "0" "c.6665T>C" "r.(?)" "p.(Val2222Ala)" "" "" "0000330460" "00000149" "50" "8591" "0" "8591" "0" "c.8591C>T" "r.(?)" "p.(Thr2864Met)" "" "" "0000330461" "00000149" "50" "13037" "0" "13037" "0" "c.13037C>T" "r.(?)" "p.(Pro4346Leu)" "" "" "0000330463" "00000149" "50" "17528" "0" "17528" "0" "c.17528A>G" "r.(?)" "p.(Tyr5843Cys)" "" "" "0000338897" "00000149" "10" "18625" "-7" "18625" "-7" "c.18625-7T>C" "r.(=)" "p.(=)" "" "" "0000340549" "00000149" "10" "9927" "0" "9927" "0" "c.9927T>G" "r.(?)" "p.(Pro3309=)" "" "" "0000342565" "00000149" "90" "8875" "0" "8875" "0" "c.8875C>T" "r.(?)" "p.(Arg2959Ter)" "" "" "0000342609" "00000149" "50" "9440" "0" "9440" "0" "c.9440G>A" "r.(?)" "p.(Arg3147Gln)" "" "" "0000342646" "00000149" "90" "9877" "0" "9877" "0" "c.9877C>T" "r.(?)" "p.(Arg3293Ter)" "" "" "0000342880" "00000149" "90" "12829" "0" "12829" "0" "c.12829C>T" "r.(?)" "p.(Arg4277Ter)" "" "" "0000343675" "00000149" "10" "7751" "0" "7751" "0" "c.7751A>G" "r.(?)" "p.(Asn2584Ser)" "" "" "0000344085" "00000149" "50" "11974" "0" "11974" "0" "c.11974G>A" "r.(?)" "p.(Asp3992Asn)" "" "" "0000344511" "00000149" "90" "3472" "0" "3472" "0" "c.3472C>T" "r.(?)" "p.(Gln1158Ter)" "" "" "0000344827" "00000149" "90" "12322" "0" "12322" "0" "c.12322C>T" "r.(?)" "p.(Gln4108Ter)" "" "" "0000345307" "00000149" "50" "7867" "0" "7867" "0" "c.7867G>A" "r.(?)" "p.(Glu2623Lys)" "" "" "0000345373" "00000149" "10" "10411" "0" "10411" "0" "c.10411G>A" "r.(?)" "p.(Glu3471Lys)" "" "" "0000345658" "00000149" "50" "3443" "0" "3443" "0" "c.3443G>A" "r.(?)" "p.(Gly1148Asp)" "" "" "0000345732" "00000149" "50" "4378" "0" "4378" "0" "c.4378G>A" "r.(?)" "p.(Gly1460Ser)" "" "" "0000345794" "00000149" "90" "5242" "0" "5242" "0" "c.5242G>T" "r.(?)" "p.(Gly1748Ter)" "" "" "0000346127" "00000149" "50" "15181" "0" "15181" "0" "c.15181G>T" "r.(?)" "p.(Gly5061Trp)" "" "" "0000346169" "00000149" "50" "1718" "0" "1718" "0" "c.1718G>T" "r.(?)" "p.(Gly573Val)" "" "" "0000347224" "00000149" "50" "16698" "0" "16698" "0" "c.16698G>T" "r.(?)" "p.(Leu5566Phe)" "" "" "0000347248" "00000149" "50" "17996" "0" "17996" "0" "c.17996T>C" "r.(?)" "p.(Leu5999Pro)" "" "" "0000347261" "00000149" "30" "18746" "0" "18746" "0" "c.18746T>G" "r.(?)" "p.(Leu6249Arg)" "" "" "0000347869" "00000149" "90" "17668" "0" "17669" "0" "c.17668_17669del" "r.(?)" "p.(Met5890ValfsTer10)" "" "" "0000347950" "00000149" "50" "4108" "0" "4108" "0" "c.4108T>G" "r.(?)" "p.(Phe1370Val)" "" "" "0000348398" "00000149" "50" "1054" "0" "1054" "0" "c.1054C>A" "r.(?)" "p.(Pro352Thr)" "" "" "0000348713" "00000149" "50" "4214" "0" "4214" "0" "c.4214C>T" "r.(?)" "p.(Ser1405Phe)" "" "" "0000349219" "00000149" "90" "2864" "0" "2864" "0" "c.2864C>A" "r.(?)" "p.(Ser955Ter)" "" "" "0000349583" "00000149" "50" "18298" "0" "18298" "0" "c.18298A>C" "r.(?)" "p.(Thr6100Pro)" "" "" "0000350149" "00000149" "50" "18130" "0" "18130" "0" "c.18130T>A" "r.(?)" "p.(Tyr6044Asn)" "" "" "0000351431" "00000149" "70" "1239" "-1" "1239" "-1" "c.1239-1G>A" "r.spl?" "p.?" "" "" "0000351432" "00000149" "50" "1776" "0" "1776" "0" "c.1776C>A" "r.(?)" "p.(Val592=)" "" "" "0000351436" "00000149" "50" "12528" "-17" "12528" "-17" "c.12528-17T>G" "r.(=)" "p.(=)" "" "" "0000358163" "00000149" "90" "15494" "0" "15494" "0" "c.15494del" "r.(?)" "p.(Lys5165Argfs*46)" "74" "" "0000372290" "00000149" "99" "18732" "0" "18750" "0" "c.18732_18750del" "r.(?)" "p.(Tyr6244*)" "89" "Cytoplasmic 4 (6155-6306)" "0000372291" "00000149" "99" "18732" "0" "18750" "0" "c.18732_18750del" "r.(?)" "p.(Tyr6244*)" "89" "Cytoplasmic 4 (6155-6306)" "0000372292" "00000149" "99" "18732" "0" "18750" "0" "c.18732_18750del" "r.(?)" "p.(Tyr6244*)" "89" "Cytoplasmic 4 (6155-6306)" "0000372293" "00000149" "99" "18732" "0" "18750" "0" "c.18732_18750del" "r.(?)" "p.(Tyr6244*)" "89" "Cytoplasmic 4 (6155-6306)" "0000372294" "00000149" "99" "8790" "0" "8790" "0" "c.8790del" "r.(?)" "p.(Met2931Trpfs*11)" "39" "" "0000372295" "00000149" "99" "8790" "0" "8790" "0" "c.8790del" "r.(?)" "p.(Met2931Trpfs*11)" "39" "" "0000372296" "00000149" "99" "8790" "0" "8790" "0" "c.8790del" "r.(?)" "p.(Met2931Trpfs*11)" "39" "" "0000372297" "00000149" "99" "8790" "0" "8790" "0" "c.8790del" "r.(?)" "p.(Met2931Trpfs*11)" "39" "" "0000372298" "00000149" "99" "8790" "0" "8790" "0" "c.8790del" "r.(?)" "p.(Met2931Trpfs*11)" "39" "" "0000372299" "00000149" "99" "8790" "0" "8790" "0" "c.8790del" "r.(?)" "p.(Met2931Trpfs*11)" "39" "" "0000372300" "00000149" "99" "6901" "0" "6901" "0" "c.6901C>T" "r.(?)" "p.(Gln2301*)" "31" "Calx-beta 16 (2283-2323)" "0000372301" "00000149" "99" "6901" "0" "6901" "0" "c.6901C>T" "r.(?)" "p.(Gln2301*)" "31" "Calx-beta 16 (2283-2323)" "0000372302" "00000149" "99" "6901" "0" "6901" "0" "c.6901C>T" "r.(?)" "p.(Gln2301*)" "31" "Calx-beta 16 (2283-2323)" "0000372303" "00000149" "99" "6901" "0" "6901" "0" "c.6901C>T" "r.(?)" "p.(Gln2301*)" "31" "Calx-beta 16 (2283-2323)" "0000372304" "00000149" "99" "6901" "0" "6901" "0" "c.6901C>T" "r.(?)" "p.(Gln2301*)" "31" "Calx-beta 16 (2283-2323)" "0000372305" "00000149" "99" "6901" "0" "6901" "0" "c.6901C>T" "r.(?)" "p.(Gln2301*)" "31" "Calx-beta 16 (2283-2323)" "0000372306" "00000149" "99" "6901" "0" "6901" "0" "c.6901C>T" "r.(?)" "p.(Gln2301*)" "31" "Calx-beta 16 (2283-2323)" "0000372307" "00000149" "99" "6901" "0" "6901" "0" "c.6901C>T" "r.(?)" "p.(Gln2301*)" "31" "Calx-beta 16 (2283-2323)" "0000372308" "00000149" "99" "8713" "0" "8716" "0" "c.8713_8716dup" "r.(?)" "p.(Ile2906Lysfs*6)" "38" "" "0000372309" "00000149" "99" "8713" "0" "8716" "0" "c.8713_8716dup" "r.(?)" "p.(Ile2906Lysfs*6)" "38" "" "0000372310" "00000149" "99" "8713" "0" "8716" "0" "c.8713_8716dup" "r.(?)" "p.(Ile2906Lysfs*6)" "38" "" "0000372311" "00000149" "99" "8713" "0" "8716" "0" "c.8713_8716dup" "r.(?)" "p.(Ile2906Lysfs*6)" "38" "" "0000372312" "00000149" "99" "17858" "-39959" "18153" "-10974" "c.17858-39959_18153-10974del" "r.(?)" "p.(Ile5953Valfs*42)" "83i_85i" "Transmembrane 2 (5940-5960);Extracellular 1 (5961-5979);Transmembrane 3 (5980-6000);Cytoplasmic 2 (6001-6010);Transmembrane 4 (6011-6031);Extracellular 2 (6032-6059)" "0000372313" "00000149" "99" "17858" "-39959" "18153" "-10974" "c.17858-39959_18153-10974del" "r.(?)" "p.(Ile5953Valfs*42)" "83i_85i" "Transmembrane 2 (5940-5960);Extracellular 1 (5961-5979);Transmembrane 3 (5980-6000);Cytoplasmic 2 (6001-6010);Transmembrane 4 (6011-6031);Extracellular 2 (6032-6059)" "0000372314" "00000149" "99" "17858" "-39959" "18153" "-10974" "c.17858-39959_18153-10974del" "r.(?)" "p.(Ile5953Valfs*42)" "83i_85i" "Transmembrane 2 (5940-5960);Extracellular 1 (5961-5979);Transmembrane 3 (5980-6000);Cytoplasmic 2 (6001-6010);Transmembrane 4 (6011-6031);Extracellular 2 (6032-6059)" "0000372315" "00000149" "99" "17858" "-39959" "18153" "-10974" "c.17858-39959_18153-10974del" "r.(?)" "p.(Ile5953Valfs*42)" "83i_85i" "Transmembrane 2 (5940-5960);Extracellular 1 (5961-5979);Transmembrane 3 (5980-6000);Cytoplasmic 2 (6001-6010);Transmembrane 4 (6011-6031);Extracellular 2 (6032-6059)" "0000372316" "00000149" "99" "17858" "-39959" "18153" "-10974" "c.17858-39959_18153-10974del" "r.(?)" "p.(Ile5953Valfs*42)" "83i_85i" "Transmembrane 2 (5940-5960);Extracellular 1 (5961-5979);Transmembrane 3 (5980-6000);Cytoplasmic 2 (6001-6010);Transmembrane 4 (6011-6031);Extracellular 2 (6032-6059)" "0000372317" "00000149" "99" "17858" "-39959" "18153" "-10974" "c.17858-39959_18153-10974del" "r.(?)" "p.(Ile5953Valfs*42)" "83i_85i" "Transmembrane 2 (5940-5960);Extracellular 1 (5961-5979);Transmembrane 3 (5980-6000);Cytoplasmic 2 (6001-6010);Transmembrane 4 (6011-6031);Extracellular 2 (6032-6059)" "0000372318" "00000149" "99" "17858" "-39959" "18153" "-10974" "c.17858-39959_18153-10974del" "r.(?)" "p.(Ile5953Valfs*42)" "83i_85i" "Transmembrane 2 (5940-5960);Extracellular 1 (5961-5979);Transmembrane 3 (5980-6000);Cytoplasmic 2 (6001-6010);Transmembrane 4 (6011-6031);Extracellular 2 (6032-6059)" "0000372319" "00000149" "99" "17858" "-39959" "18153" "-10974" "c.17858-39959_18153-10974del" "r.(?)" "p.(Ile5953Valfs*42)" "83i_85i" "Transmembrane 2 (5940-5960);Extracellular 1 (5961-5979);Transmembrane 3 (5980-6000);Cytoplasmic 2 (6001-6010);Transmembrane 4 (6011-6031);Extracellular 2 (6032-6059)" "0000372320" "00000149" "99" "17858" "-39959" "18153" "-10974" "c.17858-39959_18153-10974del" "r.(?)" "p.(Ile5953Valfs*42)" "83i_85i" "Transmembrane 2 (5940-5960);Extracellular 1 (5961-5979);Transmembrane 3 (5980-6000);Cytoplasmic 2 (6001-6010);Transmembrane 4 (6011-6031);Extracellular 2 (6032-6059)" "0000372321" "00000149" "99" "17858" "-39959" "18153" "-10974" "c.17858-39959_18153-10974del" "r.(?)" "p.(Ile5953Valfs*42)" "83i_85i" "Transmembrane 2 (5940-5960);Extracellular 1 (5961-5979);Transmembrane 3 (5980-6000);Cytoplasmic 2 (6001-6010);Transmembrane 4 (6011-6031);Extracellular 2 (6032-6059)" "0000372322" "00000149" "99" "10088" "0" "10091" "0" "c.10088_10091del" "r.(?)" "p.(Val3363Aspfs*11)" "48" "EAR 3 (3347-3393)" "0000372323" "00000149" "99" "10088" "0" "10091" "0" "c.10088_10091del" "r.(?)" "p.(Val3363Aspfs*11)" "48" "EAR 3 (3347-3393)" "0000372324" "00000149" "99" "10088" "0" "10091" "0" "c.10088_10091del" "r.(?)" "p.(Val3363Aspfs*11)" "48" "EAR 3 (3347-3393)" "0000372325" "00000149" "99" "18646" "0" "18646" "0" "c.18646del" "r.(?)" "p.(Ala6216Hisfs*13)" "89" "Cytoplasmic 4 (6155-6306)" "0000372326" "00000149" "99" "2258" "0" "2270" "0" "c.2258_2270del" "r.(?)" "p.(Gln753Leufs*8)" "12" "" "0000372327" "00000149" "99" "2258" "0" "2270" "0" "c.2258_2270del" "r.(?)" "p.(Gln753Leufs*8)" "12" "" "0000372328" "00000149" "99" "2258" "0" "2270" "0" "c.2258_2270del" "r.(?)" "p.(Gln753Leufs*8)" "12" "" "0000372329" "00000149" "99" "2258" "0" "2270" "0" "c.2258_2270del" "r.(?)" "p.(Gln753Leufs*8)" "12" "" "0000372330" "00000149" "99" "5357" "0" "5358" "0" "c.5357_5358del" "r.(?)" "p.(Lys1786Ilefs*8)" "25" "Calx-beta 12 (1767-1808)" "0000372331" "00000149" "99" "5357" "0" "5358" "0" "c.5357_5358del" "r.(?)" "p.(Lys1786Ilefs*8)" "25" "Calx-beta 12 (1767-1808)" "0000372332" "00000149" "99" "5357" "0" "5358" "0" "c.5357_5358del" "r.(?)" "p.(Lys1786Ilefs*8)" "25" "Calx-beta 12 (1767-1808)" "0000372333" "00000149" "75" "18131" "0" "18131" "0" "c.18131A>G" "r.(?)" "p.(Tyr6044Cys)" "85" "Extracellular 2 (6032-6059)" "0000372334" "00000149" "75" "18131" "0" "18131" "0" "c.18131A>G" "r.(?)" "p.(Tyr6044Cys)" "85" "Extracellular 2 (6032-6059)" "0000372335" "00000149" "75" "18131" "0" "18131" "0" "c.18131A>G" "r.(?)" "p.(Tyr6044Cys)" "85" "Extracellular 2 (6032-6059)" "0000372336" "00000149" "75" "18131" "0" "18131" "0" "c.18131A>G" "r.(?)" "p.(Tyr6044Cys)" "85" "Extracellular 2 (6032-6059)" "0000372337" "00000149" "75" "18131" "0" "18131" "0" "c.18131A>G" "r.(?)" "p.(Tyr6044Cys)" "85" "Extracellular 2 (6032-6059)" "0000372338" "00000149" "99" "8495" "0" "8495" "0" "c.8495C>A" "r.(?)" "p.(Ser2832*)" "37" "" "0000372339" "00000149" "99" "17137" "0" "17137" "0" "c.17137del" "r.(?)" "p.(Ala5713Leufs*3)" "79" "" "0000372340" "00000149" "35" "16377" "0" "16377" "0" "c.16377G>T" "r.(?)" "p.(Gln5459His)" "77" "Calx-beta 35 (5427-5468)" "0000372341" "00000149" "35" "14119" "0" "14119" "0" "c.14119G>T" "r.(?)" "p.(Asp4707Tyr)" "70" "Calx-beta 32 (4693-4734)" "0000372342" "00000149" "99" "12961" "0" "12961" "0" "c.12961G>T" "r.(?)" "p.(Glu4321*)" "64" "Calx-beta 29 (4313-4353)" "0000372343" "00000149" "99" "1563" "0" "1563" "0" "c.1563dup" "r.(?)" "p.(Pro522Serfs*8)" "9" "" "0000372344" "00000149" "99" "17668" "0" "17669" "0" "c.17668_17669del" "r.(?)" "p.(Met5890Valfs*10)" "82" "GPS (5853-5902)" "0000372345" "00000149" "99" "17668" "0" "17669" "0" "c.17668_17669del" "r.(?)" "p.(Met5890Valfs*10)" "82" "GPS (5853-5902)" "0000372346" "00000149" "99" "17668" "0" "17669" "0" "c.17668_17669del" "r.(?)" "p.(Met5890Valfs*10)" "82" "GPS (5853-5902)" "0000372347" "00000149" "99" "17668" "0" "17669" "0" "c.17668_17669del" "r.(?)" "p.(Met5890Valfs*10)" "82" "GPS (5853-5902)" "0000372348" "00000149" "99" "17668" "0" "17669" "0" "c.17668_17669del" "r.(?)" "p.(Met5890Valfs*10)" "82" "GPS (5853-5902)" "0000372349" "00000149" "99" "335" "0" "336" "0" "c.335_336del" "r.(?)" "p.(Phe112Tyrfs*29)" "3" "Calx-beta 1 (77-116)" "0000372350" "00000149" "75" "10196" "0" "10196" "0" "c.10196A>C" "r.(?)" "p.(His3399Pro)" "49" "EAR 4 (3394-3439)" "0000372351" "00000149" "99" "12555" "0" "12556" "0" "c.12555_12556del" "r.(?)" "p.(Glu4186Glyfs*17)" "62" "" "0000372352" "00000149" "99" "12555" "0" "12556" "0" "c.12555_12556del" "r.(?)" "p.(Glu4186Glyfs*17)" "62" "" "0000372353" "00000149" "35" "14654" "0" "14654" "0" "c.14654A>G" "r.(?)" "p.(Asn4885Ser)" "71" "" "0000372354" "00000149" "35" "5830" "0" "5830" "0" "c.5830G>A" "r.(?)" "p.(Asp1944Asn)" "28" "" "0000372355" "00000149" "11" "2898" "59" "2898" "59" "c.2898+59del" "r.(=)" "p.(=)" "15i" "" "0000372356" "00000149" "11" "2898" "59" "2898" "59" "c.2898+59del" "r.(=)" "p.(=)" "15i" "" "0000372357" "00000149" "11" "2898" "59" "2898" "59" "c.2898+59del" "r.(=)" "p.(=)" "15i" "" "0000372358" "00000149" "11" "2898" "59" "2898" "59" "c.2898+59del" "r.(=)" "p.(=)" "15i" "" "0000372359" "00000149" "11" "2898" "59" "2898" "59" "c.2898+59del" "r.(=)" "p.(=)" "15i" "" "0000372360" "00000149" "11" "2898" "59" "2898" "59" "c.2898+59del" "r.(=)" "p.(=)" "15i" "" "0000372361" "00000149" "11" "2898" "59" "2898" "59" "c.2898+59del" "r.(=)" "p.(=)" "15i" "" "0000372362" "00000149" "11" "2898" "59" "2898" "59" "c.2898+59del" "r.(=)" "p.(=)" "15i" "" "0000372363" "00000149" "11" "2898" "59" "2898" "59" "c.2898+59del" "r.(=)" "p.(=)" "15i" "" "0000372364" "00000149" "11" "2898" "59" "2898" "59" "c.2898+59del" "r.(=)" "p.(=)" "15i" "" "0000372365" "00000149" "11" "2898" "59" "2898" "59" "c.2898+59del" "r.(=)" "p.(=)" "15i" "" "0000372366" "00000149" "11" "2898" "59" "2898" "59" "c.2898+59del" "r.(=)" "p.(=)" "15i" "" "0000372367" "00000149" "11" "16196" "40" "16196" "40" "c.16196+40T>C" "r.(=)" "p.(=)" "75i" "" "0000372368" "00000149" "11" "16196" "40" "16196" "40" "c.16196+40T>C" "r.(=)" "p.(=)" "75i" "" "0000372369" "00000149" "11" "16196" "40" "16196" "40" "c.16196+40T>C" "r.(=)" "p.(=)" "75i" "" "0000372370" "00000149" "11" "16196" "40" "16196" "40" "c.16196+40T>C" "r.(=)" "p.(=)" "75i" "" "0000372371" "00000149" "11" "16196" "40" "16196" "40" "c.16196+40T>C" "r.(=)" "p.(=)" "75i" "" "0000372372" "00000149" "15" "5313" "107" "5313" "107" "c.5313+107T>C" "r.(=)" "p.(=)" "24i" "" "0000372373" "00000149" "15" "5313" "107" "5313" "107" "c.5313+107T>C" "r.(=)" "p.(=)" "24i" "" "0000372374" "00000149" "15" "5313" "107" "5313" "107" "c.5313+107T>C" "r.(=)" "p.(=)" "24i" "" "0000372375" "00000149" "15" "5313" "107" "5313" "107" "c.5313+107T>C" "r.(=)" "p.(=)" "24i" "" "0000372376" "00000149" "15" "5313" "107" "5313" "107" "c.5313+107T>C" "r.(=)" "p.(=)" "24i" "" "0000372377" "00000149" "15" "5313" "107" "5313" "107" "c.5313+107T>C" "r.(=)" "p.(=)" "24i" "" "0000372378" "00000149" "15" "5313" "107" "5313" "107" "c.5313+107T>C" "r.(=)" "p.(=)" "24i" "" "0000372379" "00000149" "15" "13358" "0" "13358" "0" "c.13358A>G" "r.(?)" "p.(His4453Arg)" "66" "Calx-beta 30 (4448-4488)" "0000372380" "00000149" "15" "13358" "0" "13358" "0" "c.13358A>G" "r.(?)" "p.(His4453Arg)" "66" "Calx-beta 30 (4448-4488)" "0000372381" "00000149" "11" "14972" "124" "14972" "124" "c.14972+124A>G" "r.(=)" "p.(=)" "73i" "" "0000372382" "00000149" "11" "14972" "124" "14972" "124" "c.14972+124A>G" "r.(=)" "p.(=)" "73i" "" "0000372383" "00000149" "11" "16164" "0" "16164" "0" "c.16164A>G" "r.(?)" "p.(=)" "75" "" "0000372384" "00000149" "11" "16164" "0" "16164" "0" "c.16164A>G" "r.(?)" "p.(=)" "75" "" "0000372385" "00000149" "11" "16164" "0" "16164" "0" "c.16164A>G" "r.(?)" "p.(=)" "75" "" "0000372386" "00000149" "11" "16164" "0" "16164" "0" "c.16164A>G" "r.(?)" "p.(=)" "75" "" "0000372387" "00000149" "11" "16164" "0" "16164" "0" "c.16164A>G" "r.(?)" "p.(=)" "75" "" "0000372388" "00000149" "11" "16164" "0" "16164" "0" "c.16164A>G" "r.(?)" "p.(=)" "75" "" "0000372389" "00000149" "11" "16164" "0" "16164" "0" "c.16164A>G" "r.(?)" "p.(=)" "75" "" "0000372390" "00000149" "11" "16164" "0" "16164" "0" "c.16164A>G" "r.(?)" "p.(=)" "75" "" "0000372391" "00000149" "11" "16164" "0" "16164" "0" "c.16164A>G" "r.(?)" "p.(=)" "75" "" "0000372392" "00000149" "15" "17756" "-121" "17756" "-121" "c.17756-121G>T" "r.(=)" "p.(=)" "82i" "" "0000372393" "00000149" "15" "6608" "0" "6608" "0" "c.6608T>C" "r.(?)" "p.(Val2203Ala)" "30" "Calx-beta 15 (2165-2205)" "0000372394" "00000149" "11" "7176" "0" "7176" "0" "c.7176C>T" "r.(?)" "p.(=)" "33" "" "0000372395" "00000149" "11" "7176" "0" "7176" "0" "c.7176C>T" "r.(?)" "p.(=)" "33" "" "0000372396" "00000149" "11" "7176" "0" "7176" "0" "c.7176C>T" "r.(?)" "p.(=)" "33" "" "0000372397" "00000149" "11" "16312" "0" "16312" "0" "c.16312A>G" "r.(?)" "p.(Thr5438Ala)" "76" "Calx-beta 35 (5427-5468)" "0000372398" "00000149" "15" "14517" "81" "14517" "81" "c.14517+81G>A" "r.(=)" "p.(=)" "70i" "" "0000372399" "00000149" "15" "5525" "-7" "5525" "-7" "c.5525-7C>T" "r.(=)" "p.(=)" "26i" "" "0000372400" "00000149" "15" "5525" "-7" "5525" "-7" "c.5525-7C>T" "r.(=)" "p.(=)" "26i" "" "0000372401" "00000149" "15" "5525" "-7" "5525" "-7" "c.5525-7C>T" "r.(=)" "p.(=)" "26i" "" "0000372402" "00000149" "11" "9650" "0" "9650" "0" "c.9650C>T" "r.(?)" "p.(Ala3217Val)" "45" "EAR 1 (3189-3241)" "0000372403" "00000149" "11" "9650" "0" "9650" "0" "c.9650C>T" "r.(?)" "p.(Ala3217Val)" "45" "EAR 1 (3189-3241)" "0000372404" "00000149" "11" "9650" "0" "9650" "0" "c.9650C>T" "r.(?)" "p.(Ala3217Val)" "45" "EAR 1 (3189-3241)" "0000372405" "00000149" "11" "9650" "0" "9650" "0" "c.9650C>T" "r.(?)" "p.(Ala3217Val)" "45" "EAR 1 (3189-3241)" "0000372406" "00000149" "11" "15301" "0" "15301" "0" "c.15301G>A" "r.(?)" "p.(Gly5101Arg)" "74" "" "0000372407" "00000149" "11" "15301" "0" "15301" "0" "c.15301G>A" "r.(?)" "p.(Gly5101Arg)" "74" "" "0000372408" "00000149" "11" "15301" "0" "15301" "0" "c.15301G>A" "r.(?)" "p.(Gly5101Arg)" "74" "" "0000372409" "00000149" "15" "2834" "0" "2834" "0" "c.2834G>A" "r.(?)" "p.(Gly945Glu)" "15" "Calx-beta 7 (938-979)" "0000372410" "00000149" "15" "6274" "145" "6274" "145" "c.6274+145G>T" "r.(=)" "p.(=)" "28i" "" "0000372411" "00000149" "15" "18803" "-13" "18803" "-13" "c.18803-13A>G" "r.(=)" "p.(=)" "89i" "" "0000372412" "00000149" "35" "3805" "0" "3805" "0" "c.3805T>C" "r.(?)" "p.(Phe1269Leu)" "20" "" "0000372413" "00000149" "15" "17973" "73" "17973" "73" "c.17973+73A>G" "r.(=)" "p.(=)" "84i" "" "0000372414" "00000149" "15" "17973" "73" "17973" "73" "c.17973+73A>G" "r.(=)" "p.(=)" "84i" "" "0000372415" "00000149" "15" "17973" "73" "17973" "73" "c.17973+73A>G" "r.(=)" "p.(=)" "84i" "" "0000372416" "00000149" "15" "1849" "0" "1849" "0" "c.1849G>A" "r.(?)" "p.(Val617Met)" "10" "" "0000372417" "00000149" "15" "6994" "0" "6994" "0" "c.6994A>T" "r.(?)" "p.(Ile2332Phe)" "32" "" "0000372418" "00000149" "15" "5221" "0" "5221" "0" "c.5221T>C" "r.(?)" "p.(=)" "24" "" "0000372419" "00000149" "15" "5221" "0" "5221" "0" "c.5221T>C" "r.(?)" "p.(=)" "24" "" "0000372420" "00000149" "15" "2516" "0" "2516" "0" "c.2516T>C" "r.(?)" "p.(Val839Ala)" "13" "Calx-beta 6 (821-861)" "0000372421" "00000149" "15" "9623" "28" "9623" "28" "c.9623+28A>T" "r.(=)" "p.(=)" "44i" "" "0000372422" "00000149" "15" "10053" "120" "10053" "120" "c.10053+120A>C" "r.(=)" "p.(=)" "47i" "" "0000372423" "00000149" "15" "3022" "8" "3022" "8" "c.3022+8T>C" "r.(=)" "p.(=)" "16i" "" "0000372424" "00000149" "15" "8287" "-60" "8287" "-60" "c.8287-60G>A" "r.(=)" "p.(=)" "35i" "" "0000372425" "00000149" "15" "8287" "-60" "8287" "-60" "c.8287-60G>A" "r.(=)" "p.(=)" "35i" "" "0000372426" "00000149" "15" "15105" "0" "15105" "0" "c.15105C>T" "r.(?)" 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"p.(=)" "47" "EAR 2 (3296-3345)" "0000373318" "00000149" "11" "9927" "0" "9927" "0" "c.9927T>G" "r.(?)" "p.(=)" "47" "EAR 2 (3296-3345)" "0000373319" "00000149" "11" "9927" "0" "9927" "0" "c.9927T>G" "r.(?)" "p.(=)" "47" "EAR 2 (3296-3345)" "0000373320" "00000149" "11" "9927" "0" "9927" "0" "c.9927T>G" "r.(?)" "p.(=)" "47" "EAR 2 (3296-3345)" "0000373321" "00000149" "11" "9927" "0" "9927" "0" "c.9927T>G" "r.(?)" "p.(=)" "47" "EAR 2 (3296-3345)" "0000373322" "00000149" "11" "9927" "0" "9927" "0" "c.9927T>G" "r.(?)" "p.(=)" "47" "EAR 2 (3296-3345)" "0000373323" "00000149" "11" "9927" "0" "9927" "0" "c.9927T>G" "r.(?)" "p.(=)" "47" "EAR 2 (3296-3345)" "0000373324" "00000149" "11" "9927" "0" "9927" "0" "c.9927T>G" "r.(?)" "p.(=)" "47" "EAR 2 (3296-3345)" "0000373325" "00000149" "11" "9927" "0" "9927" "0" "c.9927T>G" "r.(?)" "p.(=)" "47" "EAR 2 (3296-3345)" "0000373326" "00000149" "11" "9927" "0" "9927" "0" "c.9927T>G" "r.(?)" "p.(=)" "47" "EAR 2 (3296-3345)" "0000373327" "00000149" "99" "17020" "-1" "17856" "1" "c.17020-?_17856+?dup" "r.17020_17856dup" "p.Ile5674_Gln5952dup" "79_83" "GPS (5853-5902);Transmembrane 1 (5909-5929);Cytoplasmic 1 (5930-5939);Transmembrane 2 (5940-5960)" "0000373328" "00000149" "99" "17020" "-1" "17856" "1" "c.17020-?_17856+?dup" "r.17020_17856dup" "p.Ile5674_Gln5952dup" "79_83" "GPS (5853-5902);Transmembrane 1 (5909-5929);Cytoplasmic 1 (5930-5939);Transmembrane 2 (5940-5960)" "0000373329" "00000149" "99" "17020" "-1" "17856" "1" "c.17020-?_17856+?dup" "r.17020_17856dup" "p.Ile5674_Gln5952dup" "79_83" "GPS (5853-5902);Transmembrane 1 (5909-5929);Cytoplasmic 1 (5930-5939);Transmembrane 2 (5940-5960)" "0000373330" "00000149" "15" "17342" "0" "17342" "0" "c.17342A>G" "r.(?)" "p.(Gln5781Arg)" "80" "" "0000373331" "00000149" "11" "12285" "150" "12285" "150" "c.12285+150T>A" "r.(=)" "p.(=)" "59i" "" "0000373332" "00000149" "11" "12285" "150" "12285" "150" "c.12285+150T>A" "r.(=)" "p.(=)" "59i" "" "0000373333" "00000149" "11" "12285" "150" "12285" "150" "c.12285+150T>A" "r.(=)" "p.(=)" "59i" "" "0000373334" "00000149" "11" "12285" "150" "12285" "150" "c.12285+150T>A" "r.(=)" "p.(=)" "59i" "" "0000373335" "00000149" "11" "12285" "150" "12285" "150" "c.12285+150T>A" "r.(=)" "p.(=)" "59i" "" "0000373336" "00000149" "11" "12285" "150" "12285" "150" "c.12285+150T>A" "r.(=)" "p.(=)" "59i" "" "0000373337" "00000149" "11" "12285" "150" "12285" "150" "c.12285+150T>A" "r.(=)" "p.(=)" "59i" "" "0000373338" "00000149" "99" "13320" "0" "13320" "0" "c.13320dup" "r.(?)" "p.(Ser4441Leufs*9)" "66" "" "0000373339" "00000149" "99" "13320" "0" "13320" "0" "c.13320dup" "r.(?)" "p.(Ser4441Leufs*9)" "66" "" "0000373340" "00000149" "99" "16940" "0" "16940" "0" "c.16940del" "r.(?)" "p.(Val5647Glyfs*7)" "78" "" "0000373341" "00000149" "99" "16940" "0" "16940" "0" "c.16940del" "r.(?)" "p.(Val5647Glyfs*7)" "78" "" "0000373342" "00000149" "99" "5671" "0" "5671" "0" "c.5671A>T" "r.(?)" "p.(Arg1891*)" "28" "" "0000373343" "00000149" "11" "10769" "143" "10769" "143" "c.10769+143G>A" "r.(=)" "p.(=)" "51i" "" "0000373344" "00000149" "11" "10769" "143" "10769" "143" "c.10769+143G>A" "r.(=)" "p.(=)" "51i" "" "0000373345" "00000149" "11" "10769" "143" "10769" "143" "c.10769+143G>A" "r.(=)" "p.(=)" "51i" "" "0000373346" "00000149" "11" "10769" "143" "10769" "143" "c.10769+143G>A" "r.(=)" "p.(=)" "51i" "" "0000373347" "00000149" "11" "10769" "143" "10769" "143" "c.10769+143G>A" "r.(=)" "p.(=)" "51i" "" "0000373348" "00000149" "11" "10769" "79" "10769" "79" "c.10769+79G>A" "r.(=)" "p.(=)" "51i" "" "0000373349" "00000149" "11" "10769" "79" "10769" "79" "c.10769+79G>A" "r.(=)" "p.(=)" "51i" "" "0000373350" "00000149" "11" "10769" "79" "10769" "79" "c.10769+79G>A" "r.(=)" "p.(=)" "51i" "" "0000373351" "00000149" "11" "10769" "79" "10769" "79" "c.10769+79G>A" "r.(=)" "p.(=)" "51i" "" "0000373352" "00000149" "11" "10769" "79" "10769" "79" "c.10769+79G>A" "r.(=)" "p.(=)" "51i" "" "0000373353" "00000149" "11" "10769" "79" "10769" "79" "c.10769+79G>A" "r.(=)" "p.(=)" "51i" "" "0000373354" "00000149" "95" "13232" "-3" "13232" "-3" "c.13232-3C>G" "r.(?)" 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"p.(Leu995Hisfs*2)" "16" "" "0000373365" "00000149" "99" "7001" "0" "7001" "0" "c.7001T>G" "r.(?)" "p.(Leu2334*)" "32" "" "0000373366" "00000149" "15" "15440" "0" "15440" "0" "c.15440A>G" "r.(?)" "p.(Asp5147Gly)" "74" "" "0000373367" "00000149" "15" "15440" "0" "15440" "0" "c.15440A>G" "r.(?)" "p.(Asp5147Gly)" "74" "" "0000373368" "00000149" "35" "7582" "0" "7582" "0" "c.7582C>T" "r.(?)" "p.(Pro2528Ser)" "33" "Calx-beta 17 (2501-2541)" "0000373369" "00000149" "15" "9607" "0" "9607" "0" "c.9607T>A" "r.(?)" "p.(Ser3203Thr)" "44" "EAR 1 (3189-3241)" "0000373370" "00000149" "15" "9607" "0" "9607" "0" "c.9607T>A" "r.(?)" "p.(Ser3203Thr)" "44" "EAR 1 (3189-3241)" "0000373371" "00000149" "75" "3151" "0" "3151" "0" "c.3151G>T" "r.(?)" "p.(Asp1051Tyr)" "17" "Calx-beta 8 (1051-1092)" "0000373372" "00000149" "75" "3151" "0" "3151" "0" "c.3151G>T" "r.(?)" "p.(Asp1051Tyr)" "17" "Calx-beta 8 (1051-1092)" "0000373373" "00000149" "15" "3191" "0" "3191" "0" "c.3191A>C" "r.(?)" "p.(Glu1064Ala)" "17" "Calx-beta 8 (1051-1092)" "0000373374" "00000149" "15" "3191" "0" "3191" "0" "c.3191A>C" "r.(?)" "p.(Glu1064Ala)" "17" "Calx-beta 8 (1051-1092)" "0000373375" "00000149" "35" "12269" "0" "12269" "0" "c.12269C>A" "r.(?)" "p.(Thr4090Asn)" "59" "Calx-beta 27 (4082-4122)" "0000373376" "00000149" "35" "12269" "0" "12269" "0" "c.12269C>A" "r.(?)" "p.(Thr4090Asn)" "59" "Calx-beta 27 (4082-4122)" "0000373377" "00000149" "15" "8407" "0" "8407" "0" "c.8407G>A" "r.(?)" "p.(Ala2803Thr)" "37" "" "0000373378" "00000149" "15" "8407" "0" "8407" "0" "c.8407G>A" "r.(?)" "p.(Ala2803Thr)" "37" "" "0000373379" "00000149" "15" "4864" "0" "4864" "0" "c.4864T>C" "r.(?)" "p.(Tyr1622His)" "22" "" "0000373380" "00000149" "35" "6229" "0" "6229" "0" "c.6229G>A" "r.(?)" "p.(Glu2077Lys)" "28" "Calx-beta 14 (2038-2078)" "0000373381" "00000149" "99" "17368" "0" "17369" "0" "c.17368_17369delinsTTAT" "r.(?)" "p.(Ser5790Leufs*6)" "80" "" "0000373382" "00000149" "99" "17368" "0" "17369" "0" "c.17368_17369delinsTTAT" "r.(?)" "p.(Ser5790Leufs*6)" "80" "" "0000373383" "00000149" "11" "558" "103" "558" "123" "c.558+103_558+123delinsCTCCAGG" "r.(=)" "p.(=)" "5i" "" "0000373384" "00000149" "11" "558" "103" "558" "123" "c.558+103_558+123delinsCTCCAGG" "r.(=)" "p.(=)" "5i" "" "0000373385" "00000149" "11" "558" "103" "558" "123" "c.558+103_558+123delinsCTCCAGG" "r.(=)" "p.(=)" "5i" "" "0000373386" "00000149" "11" "558" "103" "558" "123" "c.558+103_558+123delinsCTCCAGG" "r.(=)" "p.(=)" "5i" "" "0000373387" "00000149" "15" "558" "103" "558" "123" "c.558+103_558+123delinsCTCCAGG" "r.(=)" "p.(=)" "5i" "" "0000373388" "00000149" "15" "4939" "0" "4939" "0" "c.4939A>G" "r.(?)" "p.(Ile1647Val)" "23" "Calx-beta 11 (1626-1666)" "0000373389" "00000149" "15" "4939" "0" "4939" "0" "c.4939A>G" "r.(?)" 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"p.(Ser955*)" "15" "Calx-beta 7 (938-979)" "0000373427" "00000149" "99" "2864" "0" "2864" "0" "c.2864C>A" "r.(?)" "p.(Ser955*)" "15" "Calx-beta 7 (938-979)" "0000373428" "00000149" "99" "2864" "0" "2864" "0" "c.2864C>A" "r.(?)" "p.(Ser955*)" "15" "Calx-beta 7 (938-979)" "0000373429" "00000149" "35" "17756" "-4" "17756" "-4" "c.17756-4A>G" "r.(=)" "p.(=)" "82i" "" "0000373430" "00000149" "35" "17756" "-4" "17756" "-4" "c.17756-4A>G" "r.(=)" "p.(=)" "82i" "" "0000373431" "00000149" "99" "7129" "0" "7129" "0" "c.7129C>T" "r.(?)" "p.(Arg2377*)" "32" "" "0000373432" "00000149" "99" "12226" "0" "12228" "0" "c.12226_12228delins(18)" "r.(?)" "p.(Ile4076delinsValAspGluSerArg*)" "59" "" "0000373434" "00000149" "75" "4400" "0" "4400" "0" "c.4400G>A" "r.(?)" "p.(Gly1467Glu)" "21" "" "0000373435" "00000149" "75" "4400" "0" "4400" "0" "c.4400G>A" "r.(?)" "p.(Gly1467Glu)" "21" "" "0000373436" "00000149" "99" "1380" "0" "1380" "0" "c.1380del" "r.(?)" "p.(Gln462Argfs*37)" "8" "Calx-beta 4 (447-488)" "0000373437" "00000149" "99" "4887" "0" "4888" "0" "c.4887_4888insATTTGCTAAT" "r.(?)" "p.(Ala1630Ilefs*3)" "22" "Calx-beta 11 (1626-1666)" "0000373438" "00000149" "35" "6559" "0" "6559" "0" "c.6559A>G" "r.(?)" "p.(Ile2187Val)" "30" "Calx-beta 15 (2165-2205)" "0000373439" "00000149" "35" "6559" "0" "6559" "0" "c.6559A>G" "r.(?)" "p.(Ile2187Val)" "30" "Calx-beta 15 (2165-2205)" "0000373440" "00000149" "75" "2399" "0" "2399" "0" "c.2399G>A" "r.(?)" "p.(Arg800Gln)" "13" "" "0000373441" "00000149" "75" "3974" "0" "3974" "0" "c.3974C>T" "r.(=)" "p.(Thr1325Met)" "20" "" "0000373442" "00000149" "99" "17488" "0" "17488" "0" "c.17488C>T" "r.(=)" "p.(Gln5830*)" "81" "" "0000373443" "00000149" "99" "18310" "0" "18310" "0" "c.18310G>T" "r.spl" "p.(Glu6104Ter)" "86" "Cytoplasmic 3(6081-6104)" "0000373444" "00000149" "75" "14366" "0" "14366" "0" "c.14366G>A" "r.(?)" "p.(Arg4789Gln)" "70" "" "0000373445" "00000149" "75" "14366" "0" "14366" "0" "c.14366G>A" "r.(?)" "p.(Arg4789Gln)" "70" "" "0000373446" "00000149" "99" "16040" "0" "16040" "0" "c.16040del" "r.(?)" "p.(Asp5347Valfs*22)" "74" "" "0000373447" "00000149" "99" "16040" "0" "16040" "0" "c.16040del" "r.(?)" "p.(Asp5347Valfs*22)" "74" "" "0000373448" "00000149" "99" "16040" "0" "16040" "0" "c.16040del" "r.(?)" "p.(Asp5347Valfs*22)" "74" "" "0000373449" "00000149" "99" "16040" "0" "16040" "0" "c.16040del" "r.(?)" "p.(Asp5347Valfs*22)" "74" "" "0000373450" "00000149" "99" "16040" "0" "16040" "0" "c.16040del" "r.(?)" "p.(Asp5347Valfs*22)" "74" "" "0000373451" "00000149" "99" "16040" "0" "16040" "0" "c.16040del" "r.(?)" "p.(Asp5347Valfs*22)" "74" "" "0000373452" "00000149" "99" "16040" "0" "16040" "0" "c.16040del" "r.(?)" "p.(Asp5347Valfs*22)" "74" "" "0000373453" "00000149" "99" "16040" "0" "16040" "0" "c.16040del" "r.(?)" "p.(Asp5347Valfs*22)" "74" "" "0000373454" "00000149" "99" "16040" "0" "16040" "0" "c.16040del" "r.(?)" "p.(Asp5347Valfs*22)" "74" "" "0000373455" "00000149" "99" "16040" "0" "16040" "0" "c.16040del" "r.(?)" "p.(Asp5347Valfs*22)" "74" "" "0000373456" "00000149" "99" "16040" "0" "16040" "0" "c.16040del" "r.(?)" "p.(Asp5347Valfs*22)" "74" "" "0000373457" "00000149" "99" "16040" "0" "16040" "0" "c.16040del" "r.(?)" "p.(Asp5347Valfs*22)" "74" "" "0000373458" "00000149" "99" "16040" "0" "16040" "0" "c.16040del" "r.(?)" "p.(Asp5347Valfs*22)" "74" "" "0000373459" "00000149" "99" "16040" "0" "16040" "0" "c.16040del" "r.(?)" "p.(Asp5347Valfs*22)" "74" "" "0000373460" "00000149" "99" "17755" "617" "17856" "6703" "c.17755+617_17856+6703delinsTAGACAGGGTTTCACCA" "r.(?)" "p.(Gly5919Aspfs*15)" "82i_83i" "" "0000373461" "00000149" "99" "17755" "617" "17856" "6703" "c.17755+617_17856+6703delinsTAGACAGGGTTTCACCA" "r.(?)" "p.(Gly5919Aspfs*15)" "82i_83i" "" "0000373462" "00000149" "99" "17755" "617" "17856" "6703" "c.17755+617_17856+6703delinsTAGACAGGGTTTCACCA" "r.(?)" "p.(Gly5919Aspfs*15)" "82i_83i" "" "0000373463" "00000149" "99" "17755" "617" "17856" "6703" "c.17755+617_17856+6703delinsTAGACAGGGTTTCACCA" "r.(?)" "p.(Gly5919Aspfs*15)" "82i_83i" "" "0000373464" "00000149" "99" "17755" "617" "17856" "6703" "c.17755+617_17856+6703delinsTAGACAGGGTTTCACCA" "r.(?)" "p.(Gly5919Aspfs*15)" "82i_83i" "" "0000373465" "00000149" "99" "17755" "617" "17856" "6703" "c.17755+617_17856+6703delinsTAGACAGGGTTTCACCA" "r.(?)" "p.(Gly5919Aspfs*15)" "82i_83i" "" "0000373466" "00000149" "99" "2145" "0" "2149" "0" "c.2145_2149del" "r.(?)" "p.(Leu715Phefs*6)" "11" "Calx-beta 5 (706-745)" "0000373467" "00000149" "99" "2612" "0" "2612" "0" "c.2612del" "r.(?)" "p.(Gly871Glufs*8)" "14" "" "0000373468" "00000149" "15" "3443" "0" "3443" "0" "c.3443G>A" "r.(?)" "p.(Gly1148Asp)" "19" "" "0000373469" "00000149" "75" "11974" "0" "11974" "0" "c.11974G>A" "r.(?)" "p.(Asp3992Asn)" "58" "Calx-beta 26 (3965-4005)" "0000373470" "00000149" "75" "11974" "0" "11974" "0" "c.11974G>A" "r.(?)" "p.(Asp3992Asn)" "58" "Calx-beta 26 (3965-4005)" "0000373471" "00000149" "75" "11974" "0" "11974" "0" "c.11974G>A" "r.(?)" "p.(Asp3992Asn)" "58" "Calx-beta 26 (3965-4005)" "0000373472" "00000149" "75" "14278" "0" "14278" "0" "c.14278C>T" "r.(?)" "p.(Pro4760Ser)" "70" "" "0000373473" "00000149" "75" "10019" "0" "10019" "0" "c.10019T>G" "r.(?)" "p.(Val3340Gly)" "47" "" "0000373474" "00000149" "75" "10019" "0" "10019" "0" "c.10019T>G" "r.(?)" "p.(Val3340Gly)" "47" "" "0000373475" "00000149" "75" "10019" "0" "10019" "0" "c.10019T>G" "r.(?)" "p.(Val3340Gly)" "47" "" "0000373476" "00000149" "75" "10019" "0" "10019" "0" "c.10019T>G" "r.(?)" "p.(Val3340Gly)" "47" "" "0000373477" "00000149" "11" "10577" "0" "10577" "0" "c.10577T>C" "r.(?)" "p.(Met3526Thr)" "51" "EAR 6 (3491-3534)" "0000373478" "00000149" "35" "11579" "0" "11579" "0" "c.11579C>T" "r.(?)" "p.(Pro3860Leu)" "55" "Calx-beta 25 (3834-3875)" "0000373479" "00000149" "35" "18226" "0" "18226" "0" "c.18226T>G" "r.(?)" "p.(Phe6076Val)" "86" "Transmembrane 5 (6060-6080)" "0000373480" "00000149" "99" "11550" "0" "11550" "0" "c.11550del" "r.(?)" "p.(Glu3851Lysfs*27)" "55" "Calx-beta 25 (3834-3875)" "0000373481" "00000149" "75" "7130" "0" "7130" "0" "c.7130G>A" "r.(?)" "p.(Arg2377Gln)" "32" "" "0000373482" "00000149" "75" "13048" "0" "13048" "0" "c.13048T>C" "r.(?)" "p.(Ser4350Pro)" "64" "Calx-beta 29 (4313-4353)" "0000373483" "00000149" "75" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Glu)" "7" "" "0000373484" "00000149" "99" "7006" "0" "7006" "0" "c.7006C>T" "r.(?)" "p.(Arg2336*)" "32" "" "0000373485" "00000149" "99" "14455" "0" "14456" "0" "c.14455_14456del" "r.(?)" "p.(Arg4819Alafs*11)" "70" "" "0000373486" "00000149" "99" "6382" "0" "6382" "0" "c.6382C>T" "r.(?)" "p.(Arg2128*)" "29" "" "0000373487" "00000149" "99" "17099" "0" "17100" "0" "c.17099_17100del" "r.(?)" "p.(Asn5700Thrfs*7)" "79" "" "0000373488" "00000149" "99" "6984" "0" "6985" "0" "c.6984_6985del" "r.(?)" "p.(Gly2329Argfs*17)" "32" "" "0000373489" "00000149" "99" "9906" "1" "9906" "1" "c.9906+1G>A" "r.(?)" "p.(?)" "46i" "" "0000373490" "00000149" "99" "1477" "0" "1477" "0" "c.1477C>T" "r.(?)" "p.(Arg493*)" "8" "" "0000373491" "00000149" "99" "1509" "3" "1509" "3" "c.1509+3A>G" "r.(?)" "p.(?)" "8i" "" "0000373492" "00000149" "99" "16876" "0" "16876" "0" "c.16876C>T" "r.(?)" "p.(Gln5626*)" "78" "" "0000373493" "00000149" "99" "16876" "0" "16876" "0" "c.16876C>T" "r.(?)" "p.(Gln5626*)" "78" "" "0000373494" "00000149" "99" "6952" "-1" "7133" "1" "c.6952-?_7133+?del" "r.(?)" "p.(?)" "32" "Calx-beta 16 (2283-2323)" "0000373495" "00000149" "99" "10468" "0" "10468" "0" "c.10468C>T" "r.(?)" "p.(Gln3490*)" "50" "" "0000373496" "00000149" "99" "10468" "0" "10468" "0" "c.10468C>T" "r.(?)" "p.(Gln3490*)" "50" "" "0000373497" "00000149" "99" "6093" "0" "6093" "0" "c.6093del" "r.(?)" "p.(Ala2032Argfs*27)" "28" "Calx-beta 14 (1966-2079)" "0000373498" "00000149" "99" "9184" "3" "9184" "3" "c.9184+3A>G" "r.(?)" "p.(?)" "42i" "" "0000373499" "00000149" "99" "12143" "0" "12143" "0" "c.12143C>A" "r.(?)" "p.(Ser4048*)" "59" "Calx-beta 27 (4020-4123)" "0000373500" "00000149" "99" "3023" "-1" "16611" "1" "c.3023-?_16611+?dup" "r.(?)" "p.(?)" "17_77" "" "0000373501" "00000149" "99" "18025" "0" "18025" "0" "c.18025C>T" "r.(?)" "p.(Arg6009*)" "85" "Cytoplasmic 2 (6001-6010)" "0000373502" "00000149" "99" "10527" "0" "10527" "0" "c.10527dup" "r.(?)" "p.(Phe3510Leufs*28)" "50" "EAR 6 (3491-3534)" "0000373503" "00000149" "99" "9877" "0" "9877" "0" "c.9877C>T" "r.(?)" "p.(Arg3293*)" "46" "" "0000373504" "00000149" "75" "4072" "0" "4072" "0" "c.4072T>C" "r.(?)" "p.(Ser1358Pro)" "20" "" "0000373505" "00000149" "99" "6133" "0" "6133" "0" "c.6133G>T" "r.(?)" "p.(Gly2045*)" "28" "Calx-beta 14 (1966-2079)" "0000373506" "00000149" "99" "10054" "-1" "10054" "-1" "c.10054-1G>T" "r.(?)" "p.(?)" "47i" "" "0000373507" "00000149" "99" "1608" "0" "1608" "0" "c.1608C>G" "r.(?)" "p.(Tyr536*)" "9" "" "0000373508" "00000149" "99" "1608" "0" "1608" "0" "c.1608C>G" "r.(?)" "p.(Tyr536*)" "9" "" "0000373509" "00000149" "99" "15981" "0" "15981" "0" "c.15981del" "r.(?)" "p.(Phe5328Serfs*41)" "74" "Calx-beta 34 (5288-5332)" "0000373510" "00000149" "99" "8005" "0" "8005" "0" "c.8005del" "r.(?)" "p.(Glu2669Lysfs*4)" "34" "Calx-beta 18 (2584-2676)" "0000373511" "00000149" "99" "18884" "0" "18887" "0" "c.18884_18887del" "r.(?)" "p.(Glu6295Alafs*31)" "90" "Cytoplasmic 4 (6155-6306)" "0000373512" "00000149" "99" "4379" "-1" "16196" "1" "c.4379-?_16196+?del" "r.(?)" "p.(?)" "21_75" "Calx-beta 10 (1504-1544) - Calx-beta 34 (5291-5333)" "0000373513" "00000149" "99" "1701" "0" "1701" "0" "c.1701del" "r.(?)" "p.(Leu568Cysfs*8)" "9" "" "0000373514" "00000149" "75" "17909" "0" "17909" "0" "c.17909G>C" "r.(?)" "p.(Cys5970Ser)" "84" "Extracellular 1 (5961-5979)" "0000373515" "00000149" "75" "10768" "0" "10768" "0" "c.10768A>T" "r.(?)" "p.(Ser3590Cys)" "51" "Calx-beta 23 (3525-3625)" "0000373516" "00000149" "75" "8084" "0" "8084" "0" "c.8084T>G" "r.(?)" "p.(Ile2695Ser)" "34" "" "0000373518" "00000149" "99" "12932" "0" "12932" "0" "c.12932del" "r.(?)" "p.(Ala4311Glufs*19)" "64" "" "0000480154" "00000149" "99" "18883" "0" "18886" "0" "c.18883_18886del" "r.(?)" "p.Glu6295Serfs*31" "" "" "0000526278" "00000149" "10" "22" "9" "22" "9" "c.22+9T>C" "r.(=)" "p.(=)" "" "" "0000526279" "00000149" "30" "22" "9" "22" "9" "c.22+9T>C" "r.(=)" "p.(=)" "" "" "0000526280" "00000149" "30" "23" "-664" "23" "-663" "c.23-664_23-663del" "r.(=)" "p.(=)" "" "" "0000526281" "00000149" "10" "42" "0" "42" "0" "c.42A>T" "r.(?)" "p.(Leu14Phe)" "" "" "0000526282" "00000149" "10" "357" "8" "357" "8" "c.357+8C>T" "r.(=)" "p.(=)" "" "" "0000526283" "00000149" "30" "357" "36" "357" "36" "c.357+36del" "r.(=)" "p.(=)" "" "" "0000526284" "00000149" "30" "357" "41" "357" "41" "c.357+41dup" "r.(=)" "p.(=)" "" "" "0000526285" "00000149" "30" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Ala156Thr)" "" "" "0000526286" "00000149" "50" "574" "0" "574" "0" "c.574A>G" "r.(?)" "p.(Asn192Asp)" "" "" "0000526287" "00000149" "50" "649" "0" "649" "0" "c.649A>G" "r.(?)" "p.(Asn217Asp)" "" "" "0000526288" "00000149" "50" "853" "0" "853" "0" "c.853C>G" "r.(?)" "p.(Arg285Gly)" "" "" "0000526289" "00000149" "50" "1055" "0" "1055" "0" "c.1055C>T" "r.(?)" "p.(Pro352Leu)" "" "" "0000526290" "00000149" "30" "1056" "0" "1056" "0" "c.1056G>A" "r.(?)" "p.(Pro352=)" "" "" "0000526291" "00000149" "10" "1086" "0" "1086" "0" "c.1086A>G" "r.(?)" "p.(Leu362=)" "" "" "0000526292" "00000149" "90" "1289" "0" "1290" "0" "c.1289_1290del" "r.(?)" "p.(Ser430CysfsTer11)" "" "" "0000526294" "00000149" "50" "1374" "0" "1374" "0" "c.1374T>A" "r.(?)" "p.(Phe458Leu)" "" "" "0000526295" "00000149" "50" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Ser511Asn)" "" "" "0000526296" "00000149" "10" "1839" "7" "1839" "7" "c.1839+7G>A" "r.(=)" "p.(=)" "" "" "0000526297" "00000149" "50" "2045" "0" "2045" "0" "c.2045C>G" "r.(?)" "p.(Thr682Ser)" "" "" "0000526299" "00000149" "50" "2284" "0" "2284" "0" "c.2284C>T" "r.(?)" "p.(Arg762Cys)" "" "" "0000526300" "00000149" "50" "2320" "0" "2320" "0" "c.2320G>A" "r.(?)" "p.(Gly774Arg)" "" "" "0000526301" "00000149" "10" "2355" "0" "2355" "0" "c.2355C>T" "r.(?)" "p.(Pro785=)" "" "" "0000526302" "00000149" "50" "2399" "0" "2399" "0" "c.2399G>C" "r.(?)" "p.(Arg800Pro)" "" "" "0000526303" "00000149" "50" "2636" "0" "2636" "0" "c.2636C>T" "r.(?)" "p.(Thr879Met)" "" "" "0000526304" "00000149" "30" "3151" "0" "3151" "0" "c.3151G>T" "r.(?)" "p.(Asp1051Tyr)" "" "" "0000526305" "00000149" "30" "3151" "0" "3151" "0" "c.3151G>T" "r.(?)" "p.(Asp1051Tyr)" "" "" "0000526306" "00000149" "10" "3255" "0" "3255" "0" "c.3255T>C" "r.(?)" "p.(Asp1085=)" "" "" "0000526307" "00000149" "10" "3289" "191" "3289" "192" "c.3289+191_3289+192insC" "r.(=)" "p.(=)" "" "" "0000526308" "00000149" "30" "3303" "0" "3303" "0" "c.3303A>G" "r.(?)" "p.(Val1101=)" "" "" "0000526309" "00000149" "50" "3397" "0" "3397" "0" "c.3397G>A" "r.(?)" "p.(Gly1133Arg)" "" "" "0000526310" "00000149" "30" "3416" "21" "3416" "21" "c.3416+21C>T" "r.(=)" "p.(=)" "" "" "0000526311" "00000149" "50" "3662" "0" "3662" "0" "c.3662T>C" "r.(?)" "p.(Leu1221Pro)" "" "" "0000526312" "00000149" "30" "3769" "0" "3769" "0" "c.3769G>A" "r.(?)" "p.(Val1257Ile)" "" "" "0000526313" "00000149" "30" "3819" "0" "3819" "0" "c.3819G>A" "r.(?)" "p.(Arg1273=)" "" "" "0000526314" "00000149" "90" "3946" "0" "3947" "0" "c.3946_3947insGC" "r.(?)" "p.(Gln1316ArgfsTer19)" "" "" "0000526315" "00000149" "50" "3947" "0" "3947" "0" "c.3947A>C" "r.(?)" "p.(Gln1316Pro)" "" "" "0000526316" "00000149" "10" "3956" "0" "3956" "0" "c.3956G>A" "r.(?)" "p.(Arg1319Gln)" "" "" "0000526317" "00000149" "90" "4108" "0" "4108" "0" "c.4108T>G" "r.(?)" "p.(Phe1370Val)" "" "" "0000526318" "00000149" "30" "4128" "0" "4128" "0" "c.4128C>T" "r.(?)" "p.(Asp1376=)" "" "" "0000526319" "00000149" "30" "4152" "0" "4152" "0" "c.4152G>T" "r.(?)" "p.(Gly1384=)" "" "" "0000526320" "00000149" "50" "4214" "0" "4214" "0" "c.4214C>T" "r.(?)" "p.(Ser1405Phe)" "" "" "0000526321" "00000149" "30" "4214" "0" "4214" "0" "c.4214C>T" "r.(?)" "p.(Ser1405Phe)" "" "" "0000526322" "00000149" "30" "4260" "0" "4260" "0" "c.4260A>G" "r.(?)" "p.(Glu1420=)" "" "" "0000526323" "00000149" "50" "4260" "0" "4260" "0" "c.4260A>G" "r.(?)" "p.(Glu1420=)" "" "" "0000526324" "00000149" "10" "4260" "0" "4260" "0" "c.4260A>G" "r.(?)" "p.(Glu1420=)" "" "" "0000526325" "00000149" "50" "4373" "0" "4373" "0" "c.4373C>G" "r.(?)" "p.(Thr1458Ser)" "" "" "0000526326" "00000149" "50" "4429" "0" "4429" "0" "c.4429A>G" "r.(?)" "p.(Thr1477Ala)" "" "" "0000526327" "00000149" "50" "4507" "0" "4507" "0" "c.4507G>A" "r.(?)" "p.(Ala1503Thr)" "" "" "0000526328" "00000149" "50" "4594" "0" "4594" "0" "c.4594G>T" "r.(?)" "p.(Asp1532Tyr)" "" "" "0000526329" "00000149" "30" "4753" "-130" "4753" "-130" "c.4753-130G>C" "r.(=)" "p.(=)" "" "" "0000526330" "00000149" "30" "4770" "0" "4770" "0" "c.4770A>G" "r.(?)" "p.(Ser1590=)" "" "" "0000526331" "00000149" "30" "5178" "0" "5178" "0" "c.5178C>T" "r.(?)" "p.(Ser1726=)" "" "" "0000526332" "00000149" "10" "5221" "0" "5221" "0" "c.5221T>C" "r.(?)" "p.(Leu1741=)" "" "" "0000526333" "00000149" "10" "5444" "-17" "5444" "-17" "c.5444-17dup" "r.(=)" "p.(=)" "" "" "0000526334" "00000149" "30" "5524" "67" "5524" "67" "c.5524+67A>G" "r.(=)" "p.(=)" "" "" "0000526335" "00000149" "10" "5525" "-27" "5525" "-27" "c.5525-27del" "r.(=)" "p.(=)" "" "" "0000526337" "00000149" "50" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Val1846Ala)" "" "" "0000526338" "00000149" "50" "5687" "0" "5687" "0" "c.5687T>C" "r.(?)" "p.(Leu1896Pro)" "" "" "0000526339" "00000149" "10" "5780" "0" "5780" "0" "c.5780C>T" "r.(?)" "p.(Thr1927Met)" "" "" "0000526340" "00000149" "50" "5785" "0" "5785" "0" "c.5785G>A" "r.(?)" "p.(Ala1929Thr)" "" "" "0000526341" "00000149" "50" "5785" "0" "5785" "0" "c.5785G>T" "r.(?)" "p.(Ala1929Ser)" "" "" "0000526342" "00000149" "50" "5830" "0" "5830" "0" "c.5830G>A" "r.(?)" "p.(Asp1944Asn)" "" "" "0000526344" "00000149" "30" "5830" "0" "5830" "0" "c.5830G>A" "r.(?)" "p.(Asp1944Asn)" "" "" "0000526345" "00000149" "10" "5851" "0" "5851" "0" "c.5851G>A" "r.(?)" "p.(Val1951Ile)" "" "" "0000526346" "00000149" "50" "5939" "0" "5939" "0" "c.5939T>C" "r.(?)" "p.(Ile1980Thr)" "" "" "0000526347" "00000149" "50" "5953" "0" "5953" "0" "c.5953A>C" "r.(?)" "p.(Asn1985His)" "" "" "0000526348" "00000149" "10" "5953" "0" "5953" "0" "c.5953A>G" "r.(?)" "p.(Asn1985Asp)" "" "" "0000526349" "00000149" "30" "5962" "0" "5962" "0" "c.5962G>A" "r.(?)" "p.(Val1988Ile)" "" "" "0000526350" "00000149" "30" "6058" "0" "6058" "0" "c.6058G>A" "r.(?)" "p.(Asp2020Asn)" "" "" "0000526351" "00000149" "30" "6243" "0" "6243" "0" "c.6243T>C" "r.(?)" "p.(Ser2081=)" "" "" "0000526352" "00000149" "10" "6275" "-136" "6275" "-136" "c.6275-136T>A" "r.(=)" "p.(=)" "" "" "0000526353" "00000149" "30" "6317" "0" "6317" "0" "c.6317C>T" "r.(?)" "p.(Ala2106Val)" "" "" "0000526354" "00000149" "30" "6317" "0" "6317" "0" "c.6317C>T" "r.(?)" "p.(Ala2106Val)" "" "" "0000526355" "00000149" "30" "6317" "0" "6317" "0" "c.6317C>T" "r.(?)" "p.(Ala2106Val)" "" "" "0000526356" "00000149" "30" "6318" "0" "6318" "0" "c.6318G>A" "r.(?)" "p.(Ala2106=)" "" "" "0000526357" "00000149" "30" "6320" "0" "6320" "0" "c.6320A>C" "r.(?)" "p.(Gln2107Pro)" "" "" "0000526358" "00000149" "50" "6505" "0" "6505" "0" "c.6505A>G" "r.(?)" "p.(Ile2169Val)" "" "" "0000526359" "00000149" "50" "6568" "0" "6568" "0" "c.6568A>G" "r.(?)" "p.(Ile2190Val)" "" "" "0000526360" "00000149" "30" "6608" "0" "6608" "0" "c.6608T>C" "r.(?)" "p.(Val2203Ala)" "" "" "0000526361" "00000149" "30" "6608" "0" "6608" "0" "c.6608T>C" "r.(?)" "p.(Val2203Ala)" "" "" "0000526362" "00000149" "30" "6608" "0" "6608" "0" "c.6608T>C" "r.(?)" "p.(Val2203Ala)" "" "" "0000526363" "00000149" "90" "6635" "0" "6635" "0" "c.6635del" "r.(?)" "p.(Gly2212GlufsTer4)" "" "" "0000526364" "00000149" "50" "6730" "0" "6730" "0" "c.6730G>A" "r.(?)" "p.(Val2244Ile)" "" "" "0000526365" "00000149" "30" "6951" "225" "6951" "225" "c.6951+225dup" "r.(=)" "p.(=)" "" "" "0000526366" "00000149" "30" "7039" "0" "7039" "0" "c.7039G>A" "r.(?)" "p.(Asp2347Asn)" "" "" "0000526367" "00000149" "30" "7133" "102" "7133" "102" "c.7133+102dup" "r.(=)" "p.(=)" "" "" "0000526368" "00000149" "50" "7135" "0" "7135" "0" "c.7135G>A" "r.(?)" "p.(Gly2379Arg)" "" "" "0000526369" "00000149" "30" "7176" "0" "7176" "0" "c.7176C>G" "r.(?)" "p.(Ser2392=)" "" "" "0000526370" "00000149" "10" "7176" "0" "7176" "0" "c.7176C>T" "r.(?)" "p.(Ser2392=)" "" "" "0000526371" "00000149" "30" "7176" "0" "7176" "0" "c.7176C>T" "r.(?)" "p.(Ser2392=)" "" "" "0000526372" "00000149" "50" "7261" "0" "7261" "0" "c.7261C>T" "r.(?)" "p.(Pro2421Ser)" "" "" "0000526373" "00000149" "30" "7275" "0" "7275" "0" "c.7275T>G" "r.(?)" "p.(Thr2425=)" "" "" "0000526374" "00000149" "30" "7312" "0" "7312" "0" "c.7312A>G" "r.(?)" "p.(Thr2438Ala)" "" "" "0000526375" "00000149" "30" "7642" "0" "7642" "0" "c.7642A>G" "r.(?)" "p.(Met2548Val)" "" "" "0000526376" "00000149" "10" "7806" "0" "7806" "0" "c.7806C>G" "r.(?)" "p.(Pro2602=)" "" "" "0000526377" "00000149" "50" "7867" "0" "7867" "0" "c.7867G>A" "r.(?)" "p.(Glu2623Lys)" "" "" "0000526378" "00000149" "10" "7874" "0" "7874" "0" "c.7874G>A" "r.(?)" "p.(Arg2625His)" "" "" "0000526379" "00000149" "50" "7889" "0" "7889" "0" "c.7889C>A" "r.(?)" "p.(Thr2630Lys)" "" "" "0000526380" "00000149" "50" "8113" "0" "8113" "0" "c.8113G>C" "r.(?)" "p.(Val2705Leu)" "" "" "0000526381" "00000149" "30" "8161" "0" "8161" "0" "c.8161A>G" "r.(?)" "p.(Ile2721Val)" "" "" "0000526382" "00000149" "10" "8287" "-11" "8287" "-11" "c.8287-11G>C" "r.(=)" "p.(=)" "" "" "0000526384" "00000149" "30" "8469" "0" "8469" "0" "c.8469T>C" "r.(?)" "p.(His2823=)" "" "" "0000526385" "00000149" "10" "8572" "0" "8572" "0" "c.8572A>G" "r.(?)" "p.(Ile2858Val)" "" "" "0000526386" "00000149" "30" "8572" "0" "8572" "0" "c.8572A>G" "r.(?)" "p.(Ile2858Val)" "" "" "0000526387" "00000149" "50" "8692" "0" "8692" "0" "c.8692G>C" "r.(?)" "p.(Gly2898Arg)" "" "" "0000526388" "00000149" "10" "8700" "0" "8700" "0" "c.8700A>T" "r.(?)" "p.(Thr2900=)" "" "" "0000526389" "00000149" "30" "8730" "21" "8730" "21" "c.8730+21dup" "r.(=)" "p.(=)" "" "" "0000526390" "00000149" "50" "8824" "0" "8824" "0" "c.8824G>C" "r.(?)" "p.(Asp2942His)" "" "" "0000526391" "00000149" "50" "9158" "0" "9158" "0" "c.9158G>T" "r.(?)" "p.(Gly3053Val)" "" "" "0000526392" "00000149" "50" "9499" "0" "9499" "0" "c.9499T>G" "r.(?)" "p.(Phe3167Val)" "" "" "0000526394" "00000149" "50" "9918" "0" "9918" "0" "c.9918A>G" "r.(?)" "p.(Ile3306Met)" "" "" "0000526395" "00000149" "50" "10016" "0" "10016" "0" "c.10016G>A" "r.(?)" "p.(Ser3339Asn)" "" "" "0000526396" "00000149" "30" "10054" "-13" "10054" "-13" "c.10054-13T>A" "r.(=)" "p.(=)" "" "" "0000526399" "00000149" "50" "10997" "0" "10997" "0" "c.10997A>G" "r.(?)" "p.(Glu3666Gly)" "" "" "0000526400" "00000149" "50" "11054" "0" "11054" "0" "c.11054A>G" "r.(?)" "p.(Tyr3685Cys)" "" "" "0000526401" "00000149" "30" "11232" "0" "11232" "0" "c.11232A>G" "r.(?)" "p.(Thr3744=)" "" "" "0000526402" "00000149" "50" "11309" "0" "11309" "0" "c.11309A>G" "r.(?)" "p.(Asn3770Ser)" "" "" "0000526403" "00000149" "50" "11407" "0" "11407" "0" "c.11407G>A" "r.(?)" "p.(Ala3803Thr)" "" "" "0000526404" "00000149" "50" "11411" "0" "11411" "0" "c.11411G>T" "r.(?)" "p.(Arg3804Leu)" "" "" "0000526405" "00000149" "30" "11580" "0" "11580" "0" "c.11580G>A" "r.(?)" "p.(Pro3860=)" "" "" "0000526406" "00000149" "30" "11580" "84" "11580" "86" "c.11580+84_11580+86dup" "r.(=)" "p.(=)" "" "" "0000526407" "00000149" "30" "11580" "86" "11580" "87" "c.11580+86_11580+87insCCT" "r.(=)" "p.(=)" "" "" "0000526408" "00000149" "30" "11581" "-3" "11581" "-2" "c.11581-3_11581-2insCA" "r.spl?" "p.?" "" "" "0000526409" "00000149" "70" "11581" "-2" "11581" "-2" "c.11581-2dup" "r.spl?" "p.?" "" "" "0000526410" "00000149" "10" "11745" "0" "11745" "0" "c.11745T>C" "r.(?)" "p.(Phe3915=)" "" "" "0000526411" "00000149" "10" "11940" "217" "11940" "218" "c.11940+217_11940+218insT" "r.(=)" "p.(=)" "" "" "0000526412" "00000149" "50" "11962" "0" "11962" "0" "c.11962A>G" "r.(?)" "p.(Thr3988Ala)" "" "" "0000526413" "00000149" "30" "12181" "0" "12181" "0" "c.12181G>T" "r.(?)" "p.(Val4061Phe)" "" "" "0000526415" "00000149" "30" "12269" "0" "12269" "0" "c.12269C>A" "r.(?)" "p.(Thr4090Asn)" "" "" "0000526416" "00000149" "50" "12269" "0" "12269" "0" "c.12269C>A" "r.(?)" "p.(Thr4090Asn)" "" "" "0000526418" "00000149" "30" "12269" "0" "12269" "0" "c.12269C>A" "r.(?)" "p.(Thr4090Asn)" "" "" "0000526419" "00000149" "30" "12286" "-110" "12286" "-110" "c.12286-110dup" "r.(=)" "p.(=)" "" "" "0000526420" "00000149" "30" "12286" "-109" "12286" "-109" "c.12286-109G>C" "r.(=)" "p.(=)" "" "" "0000526421" "00000149" "50" "12379" "0" "12379" "0" "c.12379G>A" "r.(?)" "p.(Glu4127Lys)" "" "" "0000526422" "00000149" "50" "12439" "0" "12439" "0" "c.12439G>C" "r.(?)" "p.(Ala4147Pro)" "" "" "0000526423" "00000149" "50" "12476" "0" "12476" "0" "c.12476A>C" "r.(?)" "p.(His4159Pro)" "" "" "0000526424" "00000149" "30" "12495" "0" "12495" "0" "c.12495C>A" "r.(?)" "p.(Pro4165=)" "" "" "0000526425" "00000149" "10" "12527" "7" "12527" "7" "c.12527+7A>G" "r.(=)" "p.(=)" "" "" "0000526426" "00000149" "30" "12666" "101" "12666" "102" "c.12666+101_12666+102dup" "r.(=)" "p.(=)" "" "" "0000526427" "00000149" "50" "12911" "0" "12911" "0" "c.12911C>T" "r.(?)" "p.(Thr4304Met)" "" "" "0000526428" "00000149" "10" "13037" "0" "13037" "0" "c.13037C>T" "r.(?)" "p.(Pro4346Leu)" "" "" "0000526429" "00000149" "10" "13037" "0" "13037" "0" "c.13037C>T" "r.(?)" "p.(Pro4346Leu)" "" "" "0000526430" "00000149" "30" "13153" "0" "13153" "0" "c.13153A>G" "r.(?)" "p.(Ile4385Val)" "" "" "0000526431" "00000149" "50" "13181" "0" "13181" "0" "c.13181A>G" "r.(?)" "p.(Asp4394Gly)" "" "" "0000526432" "00000149" "30" "13242" "0" "13242" "0" "c.13242T>C" "r.(?)" "p.(Asp4414=)" "" "" "0000526433" "00000149" "30" "13460" "0" "13460" "0" "c.13460T>A" "r.(?)" "p.(Leu4487Gln)" "" "" "0000526434" "00000149" "50" "13496" "0" "13496" "0" "c.13496G>A" "r.(?)" "p.(Arg4499His)" "" "" "0000526435" "00000149" "10" "13654" "-7" "13654" "-7" "c.13654-7C>T" "r.(=)" "p.(=)" "" "" "0000526436" "00000149" "10" "13654" "-5" "13654" "-5" "c.13654-5C>T" "r.spl?" "p.?" "" "" "0000526437" "00000149" "30" "13772" "0" "13772" "0" "c.13772C>T" "r.(?)" "p.(Thr4591Ile)" "" "" "0000526439" "00000149" "50" "13933" "0" "13933" "0" "c.13933G>A" "r.(?)" "p.(Ala4645Thr)" "" "" "0000526440" "00000149" "50" "14317" "0" "14317" "0" "c.14317A>G" "r.(?)" "p.(Ile4773Val)" "" "" "0000526441" "00000149" "30" "14373" "0" "14373" "0" "c.14373T>A" "r.(?)" "p.(Ala4791=)" "" "" "0000526442" "00000149" "10" "14515" "0" "14515" "0" "c.14515C>G" "r.(?)" "p.(Gln4839Glu)" "" "" "0000526443" "00000149" "30" "14517" "126" "14517" "126" "c.14517+126C>T" "r.(=)" "p.(=)" "" "" "0000526444" "00000149" "10" "14836" "19" "14836" "19" "c.14836+19A>G" "r.(=)" "p.(=)" "" "" "0000526446" "00000149" "10" "14943" "0" "14943" "0" "c.14943G>C" "r.(?)" "p.(Gln4981His)" "" "" "0000526447" "00000149" "30" "14943" "0" "14943" "0" "c.14943G>C" "r.(?)" "p.(Gln4981His)" "" "" "0000526448" "00000149" "50" "15098" "0" "15098" "0" "c.15098T>C" "r.(?)" "p.(Phe5033Ser)" "" "" "0000526449" "00000149" "50" "15169" "0" "15169" "0" "c.15169C>T" "r.(?)" "p.(Pro5057Ser)" "" "" "0000526450" "00000149" "30" "15498" "0" "15498" "0" "c.15498G>A" "r.(?)" "p.(Thr5166=)" "" "" "0000526451" "00000149" "30" "16197" "-118" "16197" "-118" "c.16197-118dup" "r.(=)" "p.(=)" "" "" "0000526452" "00000149" "30" "16252" "0" "16252" "0" "c.16252G>A" "r.(?)" "p.(Val5418Met)" "" "" "0000526453" "00000149" "30" "16313" "0" "16313" "0" "c.16313C>T" "r.(?)" "p.(Thr5438Ile)" "" "" "0000526454" "00000149" "30" "16377" "0" "16377" "0" "c.16377G>T" "r.(?)" "p.(Gln5459His)" "" "" "0000526455" "00000149" "30" "16699" "0" "16699" "0" "c.16699G>A" "r.(?)" "p.(Val5567Ile)" "" "" "0000526456" "00000149" "50" "16935" "0" "16935" "0" "c.16935C>G" "r.(?)" "p.(Asn5645Lys)" "" "" "0000526457" "00000149" "30" "17187" "0" "17187" "0" "c.17187C>T" "r.(?)" "p.(Cys5729=)" "" "" "0000526458" "00000149" "50" "17188" "0" "17188" "0" "c.17188G>A" "r.(?)" "p.(Gly5730Ser)" "" "" "0000526459" "00000149" "50" "18019" "0" "18019" "0" "c.18019G>A" "r.(?)" "p.(Glu6007Lys)" "" "" "0000526460" "00000149" "50" "18021" "0" "18021" "0" "c.18021G>C" "r.(?)" "p.(Glu6007Asp)" "" "" "0000526461" "00000149" "10" "18311" "-9" "18311" "-9" "c.18311-9del" "r.(=)" "p.(=)" "" "" "0000526463" "00000149" "10" "18433" "-17" "18433" "-16" "c.18433-17_18433-16insCT" "r.(=)" "p.(=)" "" "" "0000526464" "00000149" "30" "18433" "-17" "18433" "-16" "c.18433-17_18433-16insCT" "r.(=)" "p.(=)" "" "" "0000526465" "00000149" "10" "18433" "-17" "18433" "-16" "c.18433-17_18433-16insCTT" "r.(=)" "p.(=)" "" "" "0000526466" "00000149" "10" "18433" "-5" "18433" "-5" "c.18433-5dup" "r.spl?" "p.?" "" "" "0000526467" "00000149" "30" "18470" "0" "18470" "0" "c.18470A>G" "r.(?)" "p.(Asn6157Ser)" "" "" "0000526468" "00000149" "30" "18544" "0" "18544" "0" "c.18544T>A" "r.(?)" "p.(Phe6182Ile)" "" "" "0000526469" "00000149" "50" "18694" "0" "18694" "0" "c.18694C>G" "r.(?)" "p.(Pro6232Ala)" "" "" "0000526470" "00000149" "90" "18736" "0" "18736" "0" "c.18736C>T" "r.(?)" "p.(Gln6246Ter)" "" "" "0000526471" "00000149" "30" "18746" "0" "18746" "0" "c.18746T>G" "r.(?)" "p.(Leu6249Arg)" "" "" "0000526472" "00000149" "50" "18851" "0" "18851" "0" "c.18851A>G" "r.(?)" "p.(Glu6284Gly)" "" "" "0000526473" "00000149" "30" "18879" "0" "18879" "0" "c.18879C>T" "r.(?)" "p.(Ile6293=)" "" "" "0000526474" "00000149" "30" "18909" "0" "18909" "0" "c.18909C>T" "r.(?)" "p.(Asp6303=)" "" "" "0000609828" "00000149" "30" "277" "0" "277" "0" "c.277A>G" "r.(?)" "p.(Asn93Asp)" "" "" "0000609829" "00000149" "30" "1033" "0" "1033" "0" "c.1033C>A" "r.(?)" "p.(Gln345Lys)" "" "" "0000609830" "00000149" "50" "1849" "0" "1849" "0" "c.1849G>A" "r.(?)" "p.(Val617Met)" "" "" "0000609831" "00000149" "50" "2233" "0" "2233" "0" "c.2233C>G" "r.(?)" "p.(Leu745Val)" "" "" "0000609832" "00000149" "10" "2241" "-19" "2241" "-19" "c.2241-19G>T" "r.(=)" "p.(=)" "" "" "0000609833" "00000149" "10" "2367" "8" "2367" "8" "c.2367+8C>T" "r.(=)" "p.(=)" "" "" "0000609834" "00000149" "10" "3141" "0" "3141" "0" "c.3141A>G" "r.(?)" "p.(Ala1047=)" "" "" "0000609835" "00000149" "10" "3279" "0" "3279" "0" "c.3279G>T" "r.(?)" "p.(Leu1093Phe)" "" "" "0000609836" "00000149" "30" "3780" "0" "3780" "0" "c.3780A>G" "r.(?)" "p.(Glu1260=)" "" "" "0000609837" "00000149" "30" "4373" "0" "4373" "0" "c.4373C>G" "r.(?)" "p.(Thr1458Ser)" "" "" "0000609838" "00000149" "30" "5892" "0" "5892" "0" "c.5892T>C" "r.(?)" "p.(Asn1964=)" "" "" "0000609839" "00000149" "90" "5944" "0" "5944" "0" "c.5944dup" "r.(?)" "p.(Ser1982PhefsTer2)" "" "" "0000609840" "00000149" "10" "6012" "0" "6012" "0" "c.6012G>T" "r.(?)" "p.(Leu2004Phe)" "" "" "0000609841" "00000149" "50" "6229" "0" "6229" "0" "c.6229G>A" "r.(?)" "p.(Glu2077Lys)" "" "" "0000609842" "00000149" "50" "6562" "0" "6562" "0" "c.6562T>C" "r.(?)" "p.(Tyr2188His)" "" "" "0000609843" "00000149" "50" "6587" "0" "6587" "0" "c.6587A>G" "r.(?)" "p.(Glu2196Gly)" "" "" "0000609844" "00000149" "50" "6994" "0" "6994" "0" "c.6994A>T" "r.(?)" "p.(Ile2332Phe)" "" "" "0000609845" "00000149" "50" "7024" "0" "7026" "0" "c.7024_7026dup" "r.(?)" "p.(Ile2342dup)" "" "" "0000609846" "00000149" "30" "7229" "0" "7229" "0" "c.7229A>G" "r.(?)" "p.(Tyr2410Cys)" "" "" "0000609847" "00000149" "30" "7576" "0" "7576" "0" "c.7576A>G" "r.(?)" "p.(Ile2526Val)" "" "" "0000609848" "00000149" "10" "8291" "0" "8291" "0" "c.8291C>T" "r.(?)" "p.(Ser2764Leu)" "" "" "0000609849" "00000149" "10" "8538" "0" "8538" "0" "c.8538T>G" "r.(?)" "p.(Leu2846=)" "" "" "0000609850" "00000149" "30" "8730" "9" "8730" "10" "c.8730+9_8730+10del" "r.(=)" "p.(=)" "" "" "0000609851" "00000149" "10" "9743" "0" "9743" "0" "c.9743G>A" "r.(?)" "p.(Gly3248Asp)" "" "" "0000609852" "00000149" "30" "10675" "0" "10675" "0" "c.10675C>T" "r.(?)" "p.(Leu3559Phe)" "" "" "0000609853" "00000149" "50" "11222" "0" "11222" "0" "c.11222G>A" "r.(?)" "p.(Arg3741His)" "" "" "0000609854" "00000149" "30" "11568" "0" "11568" "0" "c.11568T>C" "r.(?)" "p.(Val3856=)" "" "" "0000609855" "00000149" "30" "12171" "0" "12171" "0" "c.12171A>G" "r.(?)" "p.(Thr4057=)" "" "" "0000609856" "00000149" "50" "12704" "0" "12704" "0" "c.12704A>G" "r.(?)" "p.(Tyr4235Cys)" "" "" "0000609857" "00000149" "30" "13311" "0" "13311" "0" "c.13311C>T" "r.(?)" "p.(Ile4437=)" "" "" "0000609858" "00000149" "30" "15699" "0" "15699" "0" "c.15699G>C" "r.(?)" "p.(Met5233Ile)" "" "" "0000609859" "00000149" "10" "16031" "0" "16031" "0" "c.16031A>G" "r.(?)" "p.(Glu5344Gly)" "" "" "0000609860" "00000149" "10" "16279" "0" "16279" "0" "c.16279G>A" "r.(?)" "p.(Val5427Met)" "" "" "0000609861" "00000149" "50" "16481" "0" "16481" "0" "c.16481C>G" "r.(?)" "p.(Ser5494Cys)" "" "" "0000609862" "00000149" "50" "17668" "0" "17668" "0" "c.17668A>G" "r.(?)" "p.(Met5890Val)" "" "" "0000609863" "00000149" "30" "17892" "0" "17892" "0" "c.17892A>G" "r.(?)" "p.(Gln5964=)" "" "" "0000609864" "00000149" "50" "18176" "0" "18176" "0" "c.18176C>T" "r.(?)" "p.(Ala6059Val)" "" "" "0000609865" "00000149" "30" "18475" "0" "18475" "0" "c.18475A>G" "r.(?)" "p.(Met6159Val)" "" "" "0000609866" "00000149" "50" "18746" "0" "18746" "0" "c.18746T>G" "r.(?)" "p.(Leu6249Arg)" "" "" "0000609867" "00000149" "70" "18831" "0" "18834" "0" "c.18831_18834dup" "r.(?)" "p.(Gly6279IlefsTer13)" "" "" "0000621598" "00000149" "50" "3298" "0" "3298" "0" "c.3298G>A" "r.(?)" "p.(Val1100Ile)" "" "" "0000621599" "00000149" "50" "4349" "0" "4349" "0" "c.4349A>G" "r.(?)" "p.(Lys1450Arg)" "" "" "0000621600" "00000149" "50" "4666" "0" "4666" "0" "c.4666G>A" "r.(?)" "p.(Glu1556Lys)" "" "" "0000621601" "00000149" "30" "5620" "0" "5620" "0" "c.5620A>G" "r.(?)" "p.(Ser1874Gly)" "" "" "0000621602" "00000149" "30" "14427" "0" "14427" "0" "c.14427A>G" "r.(?)" "p.(Glu4809=)" "" "" "0000621603" "00000149" "30" "14761" "0" "14761" "0" "c.14761G>A" "r.(?)" "p.(Ala4921Thr)" "" "" "0000621604" "00000149" "90" "17386" "0" "17386" "0" "c.17386C>T" "r.(?)" "p.(Gln5796Ter)" "" "" "0000632318" "00000149" "30" "18746" "0" "18746" "0" "c.18746T>G" "r.(?)" "p.(Leu6249Arg)" "" "" "0000651780" "00000149" "10" "380" "0" "380" "0" "c.380T>G" "r.(?)" "p.(Leu127Arg)" "" "" "0000651781" "00000149" "30" "1522" "0" "1522" "0" "c.1522A>C" "r.(?)" "p.(Ile508Leu)" "" "" "0000651782" "00000149" "10" "1652" "0" "1652" "0" "c.1652T>C" "r.(?)" "p.(Val551Ala)" "" "" "0000651783" "00000149" "50" "2596" "0" "2596" "0" "c.2596C>T" "r.(?)" "p.(Arg866Trp)" "" "" "0000651784" "00000149" "10" "3289" "0" "3289" "0" "c.3289G>A" "r.(?)" "p.(Gly1097Ser)" "" "" "0000651785" "00000149" "50" "3443" "0" "3443" "0" "c.3443G>A" "r.(?)" "p.(Gly1148Asp)" "" "" "0000651786" "00000149" "50" "4214" "0" "4214" "0" "c.4214C>T" "r.(?)" "p.(Ser1405Phe)" "" "" "0000651787" "00000149" "50" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Gly2045Arg)" "" "" "0000651788" "00000149" "10" "6289" "0" "6289" "0" "c.6289C>T" "r.(?)" "p.(Arg2097Cys)" "" "" "0000651789" "00000149" "30" "6608" "0" "6608" "0" "c.6608T>C" "r.(?)" "p.(Val2203Ala)" "" "" "0000651790" "00000149" "30" "8407" "0" "8407" "0" "c.8407G>A" "r.(?)" "p.(Ala2803Thr)" "" "" "0000651791" "00000149" "10" "10872" "0" "10872" "0" "c.10872A>G" "r.(=)" "p.(=)" "" "" "0000651792" "00000149" "50" "12349" "0" "12349" "0" "c.12349C>T" "r.(?)" "p.(Arg4117Cys)" "" "" "0000651793" "00000149" "50" "12704" "0" "12704" "0" "c.12704A>G" "r.(?)" "p.(Tyr4235Cys)" "" "" "0000651794" "00000149" "50" "15169" "0" "15169" "0" "c.15169C>T" "r.(?)" "p.(Pro5057Ser)" "" "" "0000651795" "00000149" "10" "16164" "0" "16164" "0" "c.16164A>G" "r.(=)" "p.(=)" "" "" "0000653066" "00000149" "30" "5830" "0" "5830" "0" "c.5830G>A" "r.(?)" "p.(Asp1944Asn)" "" "" "0000655425" "00000149" "10" "746" "0" "746" "0" "c.746G>A" "r.(?)" "p.(Arg249Lys)" "" "" "0000655426" "00000149" "50" "2653" "0" "2655" "0" "c.2653_2655del" "r.(?)" "p.(Asp885del)" "" "" "0000655427" "00000149" "50" "7468" "0" "7468" "0" "c.7468G>A" "r.(?)" "p.(Ala2490Thr)" "" "" "0000655428" "00000149" "30" "8824" "10" "8824" "10" "c.8824+10G>A" "r.(=)" "p.(=)" "" "" "0000655429" "00000149" "50" "11974" "0" "11974" "0" "c.11974G>A" "r.(?)" "p.(Asp3992Asn)" "" "" "0000655430" "00000149" "30" "12989" "0" "12989" "0" "c.12989G>A" "r.(?)" "p.(Arg4330Lys)" "" "" "0000655431" "00000149" "30" "13560" "0" "13560" "0" "c.13560C>T" "r.(?)" "p.(Leu4520=)" "" "" "0000655432" "00000149" "30" "15698" "0" "15698" "0" "c.15698T>C" "r.(?)" "p.(Met5233Thr)" "" "" "0000655433" "00000149" "30" "17055" "0" "17055" "0" "c.17055T>G" "r.(?)" "p.(Val5685=)" "" "" "0000655434" "00000149" "90" "18310" "1" "18310" "1" "c.18310+1G>A" "r.spl?" "p.?" "" "" "0000663569" "00000149" "50" "2288" "0" "2288" "0" "c.2288A>G" "r.(?)" "p.(Asp763Gly)" "" "" "0000669862" "00000149" "10" "10872" "0" "10872" "0" "c.10872A>G" "r.(=)" "p.(=)" "" "" "0000669863" "00000149" "10" "16164" "0" "16164" "0" "c.16164A>G" "r.(=)" "p.(=)" "" "" "0000677562" "00000149" "30" "3295" "0" "3295" "0" "c.3295A>G" "r.(?)" "p.(Thr1099Ala)" "" "" "0000677563" "00000149" "50" "4429" "0" "4429" "0" "c.4429A>G" "r.(?)" "p.(Thr1477Ala)" "" "" "0000677564" "00000149" "50" "4786" "0" "4786" "0" "c.4786G>A" "r.(?)" "p.(Val1596Ile)" "" "" "0000677565" "00000149" "30" "7284" "0" "7284" "0" "c.7284T>C" "r.(?)" "p.(Asn2428=)" "" "" "0000677566" "00000149" "30" "11805" "0" "11805" "0" "c.11805C>T" "r.(?)" "p.(Asn3935=)" "" "" "0000677567" "00000149" "30" "12235" "0" "12235" "0" "c.12235A>G" "r.(?)" "p.(Lys4079Glu)" "" "" "0000677568" "00000149" "50" "12704" "0" "12704" "0" "c.12704A>G" "r.(?)" "p.(Tyr4235Cys)" "" "" "0000677569" "00000149" "30" "13549" "0" "13549" "0" "c.13549A>G" "r.(?)" "p.(Ile4517Val)" "" "" "0000677570" "00000149" "30" "13615" "0" "13615" "0" "c.13615G>C" "r.(?)" "p.(Val4539Leu)" "" "" "0000677571" "00000149" "30" "14223" "0" "14223" "0" "c.14223C>T" "r.(?)" "p.(Ala4741=)" "" "" "0000677572" "00000149" "30" "14691" "0" "14691" "0" "c.14691C>T" "r.(?)" "p.(Leu4897=)" "" "" "0000677573" "00000149" "30" "15669" "0" "15669" "0" "c.15669G>A" "r.(?)" "p.(Gly5223=)" "" "" "0000677574" "00000149" "30" "15786" "0" "15786" "0" "c.15786C>T" "r.(?)" "p.(Phe5262=)" "" "" "0000684487" "00000149" "70" "376" "0" "376" "0" "c.376A>T" "r.(?)" "p.(Lys126*)" "" "" "0000684488" "00000149" "70" "15597" "0" "15597" "0" "c.15597del" "r.(?)" "p.(Ala5200Leufs*11)" "" "" "0000684832" "00000149" "90" "15449" "0" "15450" "0" "c.15449_15450del" "r.(?)" "p.(Leu5150Hisfs*6)" "" "" "0000684987" "00000149" "70" "1718" "0" "1718" "0" "c.1718G>T" "r.(?)" "p.(Gly573Val)" "" "" "0000684988" "00000149" "70" "9440" "0" "9440" "0" "c.9440G>A" "r.(?)" "p.(Arg3147Gln)" "" "" "0000684989" "00000149" "90" "9679" "0" "9679" "0" "c.9679C>T" "r.(?)" "p.(Arg3227*)" "" "" "0000684990" "00000149" "90" "12125" "0" "12125" "0" "c.12125del" "r.(?)" "p.(Met4042Argfs*15)" "" "" "0000684991" "00000149" "90" "14973" "-2" "14973" "-2" "c.14973-2A>G" "r.spl" "p.?" "" "" "0000684992" "00000149" "90" "15494" "0" "15494" "0" "c.15494del" "r.(?)" "p.(Lys5165Argfs*46)" "" "" "0000685648" "00000149" "70" "5944" "0" "5944" "0" "c.5944dup" "r.(?)" "p.(Ser1982Phefs*2)" "" "" "0000685651" "00000149" "90" "17933" "0" "17933" "0" "c.17933A>G" "r.(?)" "p.(His5978Arg)" "" "" "0000685654" "00000149" "70" "16886" "0" "16886" "0" "c.16886G>A" "r.(?)" "p.(Trp5629*)" "" "" "0000685655" "00000149" "70" "5314" "-5" "5314" "-5" "c.5314-5T>A" "r.spl" "p.(Asn1772*)" "" "" "0000685660" "00000149" "70" "14159" "0" "14159" "0" "c.14159C>T" "r.(?)" "p.(Pro4720Leu)" "" "" "0000685664" "00000149" "70" "18054" "0" "18054" "0" "c.18054G>A" "r.(?)" "p.(Trp6018*)" "" "" "0000685699" "00000149" "70" "1892" "0" "1892" "0" "c.1892del" "r.(?)" "p.(Pro631Leufs*62)" "" "" "0000685702" "00000149" "90" "3151" "0" "3151" "0" "c.3151G>T" "r.(?)" "p.(Asp1051Tyr)" "" "" "0000685706" "00000149" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "27i_33i" "" "0000685707" "00000149" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "78i_83i" "" "0000685709" "00000149" "70" "4102" "0" "4102" "0" "c.4102A>T" "r.(?)" "p.(Asn1368Tyr)" "" "" "0000685735" "00000149" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "84i_85i" "" "0000689559" "00000149" "30" "13" "0" "13" "0" "c.13C>T" "r.(?)" "p.(Leu5=)" "" "" "0000689560" "00000149" "30" "463" "0" "463" "0" "c.463A>G" "r.(?)" "p.(Ile155Val)" "" "" "0000689561" "00000149" "90" "2864" "0" "2864" "0" "c.2864C>A" "r.(?)" "p.(Ser955Ter)" "" "" "0000689562" "00000149" "10" "3289" "0" "3289" "0" "c.3289G>A" "r.(?)" "p.(Gly1097Ser)" "" "" "0000689563" "00000149" "30" "4463" "0" "4463" "0" "c.4463G>A" "r.(?)" "p.(Arg1488Gln)" "" "" "0000689564" "00000149" "50" "4472" "0" "4472" "0" "c.4472C>T" "r.(?)" "p.(Thr1491Met)" "" "" "0000689565" "00000149" "90" "5790" "0" "5790" "0" "c.5790dup" "r.(?)" "p.(Ile1931TyrfsTer8)" "" "" "0000689566" "00000149" "50" "6290" "0" "6290" "0" "c.6290G>A" "r.(?)" "p.(Arg2097His)" "" "" "0000689567" "00000149" "90" "7446" "0" "7446" "0" "c.7446C>G" "r.(?)" "p.(Tyr2482Ter)" "" "" "0000689568" "00000149" "30" "8034" "0" "8034" "0" "c.8034T>G" "r.(?)" "p.(Thr2678=)" "" "" "0000689569" "00000149" "30" "8088" "0" "8088" "0" "c.8088G>A" "r.(?)" "p.(Leu2696=)" "" "" "0000689570" "00000149" "70" "8567" "-5" "8567" "-5" "c.8567-5A>G" "r.spl?" "p.?" "" "" "0000689571" "00000149" "30" "8661" "0" "8661" "0" "c.8661C>G" "r.(?)" "p.(Val2887=)" "" "" "0000689572" "00000149" "30" "10150" "0" "10150" "0" "c.10150G>A" "r.(?)" "p.(Glu3384Lys)" "" "" "0000689573" "00000149" "30" "11758" "-6" "11758" "-6" "c.11758-6T>C" "r.(=)" "p.(=)" "" "" "0000689574" "00000149" "50" "12539" "0" "12539" "0" "c.12539G>A" "r.(?)" "p.(Gly4180Asp)" "" "" "0000689575" "00000149" "50" "12784" "0" "12784" "0" "c.12784A>G" "r.(?)" "p.(Ser4262Gly)" "" "" "0000689576" "00000149" "30" "13367" "0" "13367" "0" "c.13367C>T" "r.(?)" "p.(Thr4456Ile)" "" "" "0000689577" "00000149" "90" "13720" "0" "13726" "0" "c.13720_13726dup" "r.(?)" "p.(Val4576GlyfsTer27)" "" "" "0000689578" "00000149" "30" "14432" "0" "14432" "0" "c.14432C>A" "r.(?)" "p.(Pro4811Gln)" "" "" "0000689579" "00000149" "30" "16285" "0" "16285" "0" "c.16285G>A" "r.(?)" "p.(Glu5429Lys)" "" "" "0000689580" "00000149" "50" "16874" "0" "16874" "0" "c.16874C>T" "r.(?)" "p.(Ser5625Leu)" "" "" "0000689581" "00000149" "50" "17212" "0" "17212" "0" "c.17212A>G" "r.(?)" "p.(Thr5738Ala)" "" "" "0000689582" "00000149" "30" "17756" "-4" "17756" "-4" "c.17756-4A>G" "r.spl?" "p.?" "" "" "0000689583" "00000149" "70" "18182" "0" "18182" "0" "c.18182del" "r.(?)" "p.(Leu6061CysfsTer9)" "" "" "0000689584" "00000149" "50" "18775" "0" "18775" "0" "c.18775G>T" "r.(?)" "p.(Asp6259Tyr)" "" "" "0000710310" "00000149" "90" "5944" "0" "5944" "0" "c.5944dup" "r.(?)" "p.(Ser1982Phefs*2)" "" "" "0000713280" "00000149" "90" "3443" "0" "3443" "0" "c.3443G>A" "r.(?)" "p.(Gly1148Asp)" "" "" "0000713341" "00000149" "90" "12798" "0" "12798" "0" "c.12798T>A" "r.(?)" "p.(Tyr4266*)" "" "" "0000713372" "00000149" "90" "14517" "0" "14517" "0" "c.14517G>C" "r.(?)" "p.(Gln4839His)" "" "" "0000713436" "00000149" "90" "746" "0" "746" "0" "c.746G>A" "r.(?)" "p.(Arg249Lys)" "" "" "0000713695" "00000149" "90" "8807" "0" "8807" "0" "c.8807C>G" "r.(?)" "p.(Ser2936*)" "" "" "0000713741" "00000149" "90" "17314" "0" "17314" "0" "c.17314C>T" "r.(?)" "p.(Arg5772*)" "" "" "0000713773" "00000149" "90" "6901" "0" "6901" "0" "c.6901C>T" "r.(?)" "p.(Gln2301*)" "" "" "0000720522" "00000149" "50" "1799" "0" "1799" "0" "c.1799A>G" "r.(?)" "p.(Asn600Ser)" "" "" "0000720523" "00000149" "70" "2461" "0" "2461" "0" "c.2461G>T" "r.(?)" "p.(Glu821*)" "" "" "0000720524" "00000149" "30" "4378" "8" "4378" "8" "c.4378+8T>A" "r.(=)" "p.(=)" "" "" "0000720525" "00000149" "30" "7014" "0" "7014" "0" "c.7014A>T" "r.(?)" "p.(Ala2338=)" "" "" "0000720526" "00000149" "50" "7702" "0" "7702" "0" "c.7702G>A" "r.(?)" "p.(Val2568Ile)" "" "" "0000720527" "00000149" "50" "7735" "0" "7735" "0" "c.7735G>A" "r.(?)" "p.(Val2579Met)" "" "" "0000720528" "00000149" "30" "8700" "0" "8700" "0" "c.8700A>T" "r.(?)" "p.(Thr2900=)" "" "" "0000720529" "00000149" "50" "9838" "0" "9838" "0" "c.9838T>C" "r.(?)" "p.(Tyr3280His)" "" "" "0000720530" "00000149" "30" "13336" "0" "13336" "0" "c.13336G>A" "r.(?)" "p.(Gly4446Arg)" "" "" "0000720531" "00000149" "50" "13382" "0" "13382" "0" "c.13382A>G" "r.(?)" "p.(His4461Arg)" "" "" "0000720532" "00000149" "50" "14864" "0" "14864" "0" "c.14864A>G" "r.(?)" "p.(Gln4955Arg)" "" "" "0000720533" "00000149" "50" "14932" "0" "14932" "0" "c.14932T>C" "r.(?)" "p.(Ser4978Pro)" "" "" "0000720534" "00000149" "50" "15334" "0" "15334" "0" "c.15334C>T" "r.(?)" "p.(Arg5112Cys)" "" "" "0000720535" "00000149" "30" "16249" "0" "16249" "0" "c.16249G>A" "r.(?)" "p.(Val5417Ile)" "" "" "0000720536" "00000149" "50" "17667" "0" "17667" "0" "c.17667C>G" "r.(?)" "p.(His5889Gln)" "" "" "0000720537" "00000149" "50" "17975" "0" "17975" "0" "c.17975C>G" "r.(?)" "p.(Ser5992Cys)" "" "" "0000720538" "00000149" "50" "18040" "0" "18040" "0" "c.18040T>C" "r.(?)" "p.(Phe6014Leu)" "" "" "0000730134" "00000149" "90" "14971" "0" "14971" "0" "c.14971C>T" "r.(?)" "p.(Arg4991*)" "" "" "0000730135" "00000149" "90" "1472" "0" "1472" "0" "c.1472del" "r.(?)" "p.(Thr491Lysfs*8)" "" "" "0000730213" "00000149" "50" "3978" "0" "3978" "0" "c.3978T>A" "r.(?)" "p.(Asp1326Glu)" "" "" "0000730284" "00000149" "90" "14971" "0" "14971" "0" "c.14971C>T" "r.(?)" "p.(Arg4991*)" "" "" "0000730290" "00000149" "90" "16225" "0" "16225" "0" "c.16225C>T" "r.(?)" "p.(Arg5409*)" "" "" "0000730992" "00000149" "70" "14767" "0" "14767" "0" "c.14767del" "r.(?)" "p.(Thr4923Profs*8)" "" "" "0000731050" "00000149" "70" "17668" "0" "17669" "0" "c.17668_17669del" "r.(?)" "p.(Met5890Valfs*10)" "" "" "0000731090" "00000149" "50" "6017" "0" "6017" "0" "c.6017G>A" "r.(?)" "p.(Gly2006Asp)" "" "" "0000731392" "00000149" "70" "3334" "0" "3334" "0" "c.3334G>T" "r.(?)" "p.(Glu1112*)" "" "" "0000731411" "00000149" "50" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Gly2045Arg)" "" "" "0000731413" "00000149" "50" "11272" "0" "11272" "0" "c.11272C>A" "r.(?)" "p.(Gln3758Lys)" "" "" "0000731417" "00000149" "50" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Gly2045Arg)" "" "" "0000731418" "00000149" "50" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Gly2045Arg)" "" "" "0000731421" "00000149" "50" "11974" "0" "11974" "0" "c.11974G>A" "r.(?)" "p.(Asp3992Asn)" "" "" "0000732445" "00000149" "90" "7569" "0" "7569" "0" "c.7569A>G" "r.(?)" "p.(Thr2523=)" "" "" "0000733237" "00000149" "70" "2922" "0" "2922" "0" "c.2922del" "r.(?)" "p.(Phe974Leufs*6)" "" "" "0000733258" "00000149" "70" "1923" "0" "1933" "0" "c.1923_1933delinsG" "r.(?)" "p.(Leu642Glnfs*48)" "" "" "0000733653" "00000149" "70" "14855" "0" "14855" "0" "c.14855del" "r.(?)" "p.(His4952Profs*64)" "" "" "0000733663" "00000149" "70" "15188" "0" "15188" "0" "c.15188T>C" "r.(?)" "p.(Leu5063Pro)" "" "" "0000735620" "00000149" "70" "4108" "0" "4108" "0" "c.4108T>G" "r.(?)" "p.(Phe1370Val)" "" "" "0000735742" "00000149" "70" "4108" "0" "4108" "0" "c.4108T>G" "r.(?)" "p.(Phe1370Val)" "" "" "0000735856" "00000149" "70" "7988" "0" "7989" "0" "c.7988_7989del" "r.(?)" "p.(Ser2663Ter)" "" "" "0000735876" "00000149" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "" "0000735900" "00000149" "70" "13757" "0" "13757" "0" "c.13757A>T" "r.(?)" "p.(Glu4586Val)" "" "" "0000735960" "00000149" "70" "7176" "0" "7176" "0" "c.7176C>T" "r.(?)" "p.(Ser2392=)" "" "" "0000735985" "00000149" "50" "8779" "0" "8779" "0" "c.8779G>A" "r.(?)" "p.(Val2927Ile)" "39" "" "0000735992" "00000149" "50" "12208" "0" "12208" "0" "c.12208G>A" "r.(?)" "p.(Val4070Ile)" "59" "" "0000759991" "00000149" "50" "2261" "0" "2261" "0" "c.2261T>C" "r.(?)" "p.(Val754Ala)" "" "" "0000760011" "00000149" "50" "17017" "0" "17017" "0" "c.17017A>G" "r.(?)" "p.(Lys5673Glu)" "" "" "0000760019" "00000149" "50" "2834" "0" "2834" "0" "c.2834G>A" "r.(?)" "p.(Gly945Glu)" "" "" "0000760308" "00000149" "50" "5504" "0" "5507" "0" "c.5504_5507del" "r.(?)" "p.(Leu1835Glnfs*9)" "" "" "0000763454" "00000149" "70" "9623" "3" "9623" "3" "c.9623+3A>C" "r.[(9495_9623del,9530_9623del,9448_9623del)]" "p.[(Tyr3166_Arg3208del),(Gly3177Glufs*5),(Ala3150Serfs*11)]" "44i" "" "0000763455" "00000149" "90" "15736" "0" "15736" "0" "c.15736C>T" "r.(?)" "p.(Arg5246*)" "74" "" "0000763456" "00000149" "90" "4231" "0" "4231" "0" "c.4231del" "r.(?)" "p.(Ala1411Profs*6)" "20" "" "0000763458" "00000149" "90" "10088" "0" "10091" "0" "c.10088_10091del" "r.(?)" "p.(Val3363Aspfs*11)" "48" "" "0000763462" "00000149" "50" "9512" "0" "9512" "0" "c.9512T>C" "r.(?)" "p.(Leu3171Ser)" "44" "" "0000763470" "00000149" "50" "2261" "0" "2261" "0" "c.2261T>C" "r.(?)" "p.(Val754Ala)" "12" "" "0000763471" "00000149" "50" "10878" "0" "10878" "0" "c.10878A>C" "r.(?)" "p.(Lys3626Asn)" "" "" "0000763563" "00000149" "90" "1608" "0" "1608" "0" "c.1608C>G" "r.(?)" "p.(Tyr536*)" "" "" "0000764087" "00000149" "50" "14282" "0" "14282" "0" "c.14282A>G" "r.(?)" "p.(His4761Arg)" "" "" "0000764165" "00000149" "90" "4231" "0" "4231" "0" "c.4231del" "r.(?)" "p.(Ala1411Profs*6)" "20" "" "0000764168" "00000149" "90" "1563" "0" "1563" "0" "c.1563del" "r.(?)" "p.(Pro522Leufs*18)" "9" "" "0000764185" "00000149" "50" "5167" "0" "5167" "0" "c.5167C>G" "r.(?)" "p.(Pro1723Ala)" "24" "" "0000764186" "00000149" "50" "14939" "0" "14939" "0" "c.14939T>C" "r.(?)" "p.(Val4980Ala)" "73" "" "0000765240" "00000149" "70" "6981" "0" "6981" "0" "c.6981del" "r.(?)" "p.(Gly2328Valfs*7)" "" "" "0000765328" "00000149" "70" "7606" "0" "7606" "0" "c.7606G>T" "r.(?)" "p.(Glu2536*)" "" "" "0000765329" "00000149" "70" "8749" "0" "8749" "0" "c.8749G>T" "r.(?)" "p.(Glu2917*)" "" "" "0000765330" "00000149" "70" "15716" "0" "15716" "0" "c.15716del" "r.(?)" "p.(Asn5239Thrfs*19)" "" "" "0000765335" "00000149" "70" "12895" "0" "12895" "0" "c.12895C>T" "r.(?)" "p.(Arg4299*)" "" "" "0000765336" "00000149" "70" "11410" "0" "11410" "0" "c.11410C>T" "r.(?)" "p.(Arg3804*)" "" "" "0000765349" "00000149" "70" "14044" "-1" "14044" "-1" "c.14044-1G>A" "r.spl" "p.?" "" "" "0000765417" "00000149" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "" "0000765418" "00000149" "70" "17204" "5" "17204" "5" "c.17204+5G>C" "r.spl" "p.?" "" "" "0000765560" "00000149" "90" "2285" "0" "2285" "0" "c.2285G>A" "r.(?)" "p.(Arg762His)" "" "" "0000765597" "00000149" "90" "4349" "0" "4349" "0" "c.4349A>G" "r.(?)" "p.(Lys1450Arg)" "" "" "0000785522" "00000149" "50" "7264" "0" "7264" "0" "c.7264C>T" "r.(?)" "p.(Leu2422Phe)" "" "" "0000786471" "00000149" "90" "956" "0" "956" "0" "c.956dup" "r.(?)" "p.(Asn319LysfsTer6)" "" "" "0000786504" "00000149" "90" "17668" "0" "17669" "0" "c.17668_17669del" "r.(?)" "p.(Met5890ValfsTer10)" "" "" "0000788129" "00000149" "90" "15736" "0" "15736" "0" "c.15736C>T" "r.(?)" "p.(Arg5246Ter)" "" "" "0000788130" "00000149" "90" "7006" "0" "7006" "0" "c.7006C>T" "r.(?)" "p.(Arg2336Ter)" "" "" "0000788170" "00000149" "90" "12403" "1" "12403" "1" "c.12403+1G>T" "r.spl" "p.?" "" "" "0000788315" "00000149" "50" "1804" "0" "1804" "0" "c.1804G>A" "r.(?)" "p.(Ala602Thr)" "9" "" "0000788372" "00000149" "50" "14319" "0" "14319" "0" "c.14319A>G" "r.(?)" "p.(Ile4773Met)" "70" "" "0000788401" "00000149" "50" "6886" "0" "6886" "0" "c.6886C>T" "r.(?)" "p.(Pro2296Ser)" "31" "" "0000788460" "00000149" "50" "16537" "0" "16537" "0" "c.16537G>A" "r.(?)" "p.(Ala5513Thr)" "77" "" "0000788474" "00000149" "50" "18527" "0" "18527" "0" "c.18527G>A" "r.(?)" "p.(Gly6176Glu)" "88" "" "0000788485" "00000149" "50" "1804" "0" "1804" "0" "c.1804G>A" "r.(?)" "p.(Ala602Thr)" "9" "" "0000789756" "00000149" "90" "6901" "0" "6901" "0" "c.6901C>T" "r.(?)" "p.(Gln2301*)" "31" "" "0000789757" "00000149" "90" "8713" "0" "8716" "0" "c.8713_8716dup" "r.(?)" "p.(Ile2906Lysfs*6)" "38" "" "0000789758" "00000149" "90" "6901" "0" "6901" "0" "c.6901C>T" "r.(?)" "p.(Gln2301*)" "31" "" "0000789759" "00000149" "90" "8713" "0" "8716" "0" "c.8713_8716dup" "r.(?)" "p.(Ile2906Lysfs*6)" "38" "" "0000789760" "00000149" "90" "6901" "0" "6901" "0" "c.6901C>T" "r.(?)" "p.(Gln2301*)" "31" "" "0000789761" "00000149" "90" "8713" "0" "8716" "0" "c.8713_8716dup" "r.(?)" "p.(Ile2906Lysfs*6)" "38" "" "0000789936" "00000149" "50" "4108" "0" "4108" "0" "c.4108T>G" "r.(4108u>g)" "p.(Phe1370Val)" "20" "" "0000794326" "00000149" "70" "18601" "0" "18601" "0" "c.18601A>C" "r.(?)" "p.(Asn6201His)" "88" "" "0000794327" "00000149" "90" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Glu)" "7" "" "0000796924" "00000149" "90" "8226" "0" "8226" "0" "c.8226T>G" "r.(?)" "p.(Ile2742Met)" "35" "" "0000796925" "00000149" "90" "3443" "0" "3443" "0" "c.3443G>A" "r.(?)" "p.(Gly1148Asp)" "19" "" "0000797639" "00000149" "70" "3430" "0" "3430" "0" "c.3430C>T" "r.(?)" "p.(Arg1144*)" "" "" "0000797684" "00000149" "70" "17195" "0" "17195" "0" "c.17195del" "r.(?)" "p.(Pro5732Leufs*54)" "" "" "0000797685" "00000149" "70" "4379" "-1" "4379" "-1" "c.4379-1G>A" "r.spl" "p.(?)" "" "" "0000802208" "00000149" "30" "1131" "0" "1131" "0" "c.1131T>G" "r.(?)" "p.(Ser377=)" "" "" "0000802209" "00000149" "30" "1464" "0" "1464" "0" "c.1464G>A" "r.(?)" "p.(Leu488=)" "" "" "0000802210" "00000149" "50" "1849" "0" "1849" "0" "c.1849G>A" "r.(?)" "p.(Val617Met)" "" "" "0000802211" "00000149" "30" "2112" "0" "2112" "0" "c.2112G>A" "r.(?)" "p.(Pro704=)" "" "" "0000802212" "00000149" "30" "2596" "0" "2596" "0" "c.2596C>T" "r.(?)" "p.(Arg866Trp)" "" "" "0000802213" "00000149" "50" "2636" "0" "2636" "0" "c.2636C>T" "r.(?)" "p.(Thr879Met)" "" "" "0000802214" "00000149" "50" "3212" "0" "3212" "0" "c.3212G>A" "r.(?)" "p.(Ser1071Asn)" "" "" "0000802215" "00000149" "50" "3599" "0" "3599" "0" "c.3599A>G" "r.(?)" "p.(Asn1200Ser)" "" "" "0000802216" "00000149" "30" "4264" "0" "4264" "0" "c.4264A>G" "r.(?)" "p.(Ser1422Gly)" "" "" "0000802217" "00000149" "50" "7109" "0" "7109" "0" "c.7109G>T" "r.(?)" "p.(Cys2370Phe)" "" "" "0000802218" "00000149" "50" "7154" "0" "7154" "0" "c.7154T>C" "r.(?)" "p.(Leu2385Pro)" "" "" "0000802219" "00000149" "30" "7287" "0" "7287" "0" "c.7287C>T" "r.(?)" "p.(Val2429=)" "" "" "0000802220" "00000149" "50" "7613" "0" "7621" "0" "c.7613_7621del" "r.(?)" "p.(Phe2538_Ile2540del)" "" "" "0000802221" "00000149" "90" "7917" "0" "7917" "0" "c.7917del" "r.(?)" "p.(Ala2640Leufs*5)" "" "" "0000802222" "00000149" "10" "8133" "0" "8133" "0" "c.8133C>T" "r.(?)" "p.(Ser2711=)" "" "" "0000802223" "00000149" "90" "8801" "0" "8801" "0" "c.8801C>A" "r.(?)" "p.(Ser2934*)" "" "" "0000802224" "00000149" "30" "12269" "0" "12269" "0" "c.12269C>A" "r.(?)" "p.(Thr4090Asn)" "" "" "0000802225" "00000149" "50" "12586" "0" "12586" "0" "c.12586C>T" "r.(?)" "p.(Pro4196Ser)" "" "" "0000802226" "00000149" "30" "14931" "0" "14931" "0" "c.14931A>G" "r.(?)" "p.(Leu4977=)" "" "" "0000802227" "00000149" "90" "16079" "-1" "16079" "-1" "c.16079-1G>A" "r.spl?" "p.?" "" "" "0000802228" "00000149" "30" "16175" "0" "16175" "0" "c.16175T>C" "r.(?)" "p.(Ile5392Thr)" "" "" "0000802229" "00000149" "30" "16986" "0" "16986" "0" "c.16986A>G" "r.(?)" "p.(Glu5662=)" "" "" "0000802230" "00000149" "30" "17676" "0" "17676" "0" "c.17676G>T" "r.(?)" "p.(Val5892=)" "" "" "0000802231" "00000149" "50" "18233" "0" "18233" "0" "c.18233T>C" "r.(?)" "p.(Val6078Ala)" "" "" "0000811943" "00000149" "70" "3141" "0" "3144" "0" "c.3141_3144del" "r.(?)" "p.(Arg1050Ilefs*40)" "" "" "0000811944" "00000149" "70" "14731" "0" "14731" "0" "c.14731A>G" "r.(?)" "p.(Arg4911Gly)" "" "" "0000811945" "00000149" "70" "11974" "0" "11974" "0" "c.11974G>A" "r.(?)" "p.(Asp3992Asn)" "" "" "0000812493" "00000149" "70" "17062" "0" "17062" "0" "c.17062C>T" "r.(?)" "p.(Arg5688*)" "" "" "0000812494" "00000149" "70" "17062" "0" "17062" "0" "c.17062C>T" "r.(?)" "p.(Arg5688*)" "" "" "0000813864" "00000149" "70" "9748" "2" "9748" "2" "c.9748+2T>C" "r.spl" "p.(?)" "" "" "0000813865" "00000149" "70" "6962" "0" "6963" "0" "c.6962_6963del" "r.(?)" "p.(Val2321Alafs*4)" "" "" "0000813868" "00000149" "70" "13232" "-1" "13232" "-1" "c.13232-1G>A" "r.spl" "p.(?)" "" "" "0000813869" "00000149" "70" "2680" "0" "2680" "0" "c.2680del" "r.(?)" "p.(Ser894Leufs*4)" "" "" "0000815741" "00000149" "70" "13165" "0" "13166" "0" "c.13165_13166insTGGAACTCCAGGAGGG" "r.(?)" "p.(Ile4389MetfsTer11)" "" "" "0000815954" "00000149" "90" "17668" "0" "17669" "0" "c.17668_17669del" "r.(?)" "p.(Met5890Valfs*10)" "" "" "0000815962" "00000149" "90" "13434" "-2" "13434" "-2" "c.13434-2A>T" "r.spl" "p.(?)" "" "" "0000816066" "00000149" "90" "14973" "-2" "14973" "-2" "c.14973-2A>G" "r.spl" "p.(?)" "" "" "0000816067" "00000149" "70" "15431" "0" "15431" "0" "c.15431dup" "r.(?)" "p.(Ala5145Serfs*3)" "" "" "0000816070" "00000149" "90" "6901" "0" "6901" "0" "c.6901C>T" "r.(?)" "p.(Gln2301*)" "" "" "0000816181" "00000149" "70" "12222" "0" "12222" "0" "c.12222G>A" "r.(?)" "p.(Trp4074*)" "" "" "0000816216" "00000149" "70" "12697" "0" "12697" "0" "c.12697dup" "r.(?)" "p.(Ser4233Lysfs*4)" "" "" "0000816239" "00000149" "70" "23" "-22417" "17856" "15293" "c.23-22417_17856+15293dup" "r.spl" "p.(?)" "1i_83i" "" "0000816250" "00000149" "50" "5665" "-1" "5665" "-1" "c.5665-1G>A" "r.spl" "p.(?)" "" "" "0000816261" "00000149" "50" "6901" "0" "6901" "0" "c.6901C>T" "r.(?)" "p.(Gln2301*)" "" "" "0000816267" "00000149" "50" "11256" "0" "11256" "0" "c.11256del" "r.(?)" "p.(Gly3753Valfs*13)" "" "" "0000816306" "00000149" "90" "9877" "0" "9877" "0" "c.9877C>T" "r.(?)" "p.(Arg3293*)" "" "" "0000816313" "00000149" "90" "15983" "0" "15985" "0" "c.15983_15985del" "r.(?)" "p.(Phe5328del)" "" "" "0000816400" "00000149" "70" "3443" "0" "3443" "0" "c.3443G>A" "r.(?)" "p.(Gly1148Asp)" "" "" "0000816401" "00000149" "70" "7374" "0" "7375" "0" "c.7374_7375del" "r.(?)" "p.(Glu2459Glyfs*35)" "" "" "0000816402" "00000149" "70" "18646" "0" "18646" "0" "c.18646del" "r.(?)" "p.(Ala6216Hisfs*13)" "" "" "0000816405" "00000149" "70" "8713" "0" "8716" "0" "c.8713_8716dup" "r.(?)" "p.(Ile2906Lysfs*6)" "" "" "0000816485" "00000149" "70" "15262" "0" "15262" "0" "c.15262G>T" "r.(?)" "p.(Glu5088*)" "" "" "0000816513" "00000149" "70" "12697" "0" "12697" "0" "c.12697dup" "r.(?)" "p.(Ser4233Lysfs*4)" "" "" "0000816525" "00000149" "90" "13655" "0" "13655" "0" "c.13655dup" "r.(?)" "p.(Asn4553Glufs*18)" "" "" "0000816644" "00000149" "90" "18625" "-1" "18625" "-1" "c.18625-1G>T" "r.(?)" "p.(?)" "" "" "0000816802" "00000149" "70" "9430" "0" "9430" "0" "c.9430G>T" "r.(?)" "p.(Glu3144*)" "" "" "0000816877" "00000149" "70" "10769" "2" "10769" "2" "c.10769+2T>A" "r.(?)" "p.(?)" "" "" "0000816878" "00000149" "70" "6049" "2" "6049" "2" "c.6049+2T>G" "r.(?)" "p.(?)" "" "" "0000817135" "00000149" "90" "5944" "0" "5944" "0" "c.5944dupT" "r.(?)" "p.(Ser1982PhefsTer2)" "" "" "0000817141" "00000149" "90" "10975" "-2" "10975" "-2" "c.10975-2A>G" "r.(?)" "p.(?)" "" "" "0000817218" "00000149" "70" "13893" "1" "13893" "2" "c.13893+1_13893+2dupGT" "r.(?)" "p.(?)" "" "" "0000818496" "00000149" "90" "3727" "0" "3727" "0" "c.3727dup" "r.(?)" "p.(Ile1243AsnfsTer18)" "" "" "0000818504" "00000149" "90" "14387" "0" "14387" "0" "c.14387dup" "r.(?)" "p.(Asp4796GlufsTer13" "" "" "0000819736" "00000149" "70" "12226" "0" "12227" "0" "c.12226_12227delins17" "r.(?)" "p.(?)" "" "" "0000819766" "00000149" "70" "4400" "0" "4400" "0" "c.4400G>A" "r.(?)" "p.(Gly1467Glu)" "" "" "0000819839" "00000149" "70" "8401" "0" "8401" "0" "c.8401G>A" "r.(?)" "p.(Gly2801Arg)" "" "" "0000819980" "00000149" "70" "2241" "-2" "2241" "-2" "c.2241-2A>G" "r.spl" "p.(?)" "" "" "0000820731" "00000149" "70" "11974" "0" "11974" "0" "c.11974G>A" "r.(?)" "p.(Asp3992Asn)" "" "" "0000820775" "00000149" "70" "3195" "0" "3195" "0" "c.3195dup" "r.(?)" "p.(Gly1066Trpfs*3)" "" "" "0000821259" "00000149" "70" "12798" "0" "12798" "0" "c.12798T>A" "r.(?)" "p.(Tyr4266*)" "" "" "0000821260" "00000149" "70" "14517" "0" "14517" "0" "c.14517G>C" "r.(?)" "p.(Gln4839His)" "" "" "0000821261" "00000149" "90" "6901" "0" "6901" "0" "c.6901C>T" "r.(?)" "p.(Gln2301*)" "" "" "0000821262" "00000149" "70" "12982" "0" "12982" "0" "c.12982G>T" "r.(?)" "p.(Glu4328*)" "" "" "0000821558" "00000149" "70" "17314" "0" "17314" "0" "c.17314C>T" "r.(?)" "p.(Arg5772*)" "" "" "0000821559" "00000149" "70" "746" "0" "746" "0" "c.746G>A" "r.(?)" "p.(Arg249Lys)" "" "" "0000822959" "00000149" "70" "12798" "0" "12798" "0" "c.12798T>A" "r.(?)" "p.(Tyr4266*)" "" "" "0000823249" "00000149" "50" "357" "48" "357" "48" "c.357+48A>G" "r.spl?" "p.?" "" "" "0000823284" "00000149" "50" "853" "0" "853" "0" "c.853C>G" "r.(?)" "p.(Arg285Gly)" "" "" "0000824724" "00000149" "50" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Glu)" "" "" "0000825817" "00000149" "70" "3934" "0" "3934" "0" "c.3934G>A" "r.(?)" "p.(Val1312Met)" "20" "" "0000825818" "00000149" "70" "7307" "0" "7307" "0" "c.7307T>G" "r.(?)" "p.(Leu2436Arg)" "33" "" "0000825932" "00000149" "70" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Glu)" "7" "" "0000825933" "00000149" "70" "18601" "0" "18601" "0" "c.18601A>C" "r.(?)" "p.(Asn6201His)" "88" "" "0000826442" "00000149" "50" "15494" "0" "15494" "0" "c.15494del" "r.(?)" "p.(Lys5165Argfs*46)" "74" "" "0000826981" "00000149" "90" "9140" "0" "9140" "0" "c.9140T>G" "r.(?)" "p.(Leu3047*)" "" "" "0000827440" "00000149" "90" "5954" "0" "5954" "0" "c.5954del" "r.(?)" "p.(Asn1985Thrfs*17)" "28" "" "0000827441" "00000149" "90" "3746" "0" "3746" "0" "c.3746T>G" "r.(?)" "p.(Leu1249*)" "20" "" "0000827442" "00000149" "90" "8401" "0" "8401" "0" "c.8401G>T" "r.(?)" "p.(Gly2801*)" "37" "" "0000827443" "00000149" "90" "10527" "0" "10527" "0" "c.10527dup" "r.(?)" "p.(Phe3510Leufs*28)" "50" "" "0000827444" "00000149" "90" "11940" "2" "11940" "2" "c.11940+2T>A" "r.spl?" "p.?" "57i" "" "0000827445" "00000149" "90" "17406" "0" "17412" "0" "c.17406_17412del" "r.(?)" "p.(Gln5803Glyfs*3)" "80" "" "0000827446" "00000149" "90" "4523" "0" "4523" "0" "c.4523del" "r.(?)" "p.(His1508Profs*38)" "21" "" "0000829459" "00000149" "50" "769" "0" "769" "0" "c.769G>A" "r.(?)" "p.(Gly257Arg)" "7" "" "0000829461" "00000149" "50" "769" "0" "769" "0" "c.769G>A" "r.(?)" "p.(Gly257Arg)" "7" "" "0000829496" "00000149" "70" "14639" "0" "14640" "0" "c.14639_14640del" "r.(?)" "p.(Ser4880*)" "71" "" "0000829497" "00000149" "70" "955" "0" "958" "0" "c.955_958dup" "r.(?)" "p.(Leu320Glnfs*6)" "7" "" "0000829521" "00000149" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "" "0000829522" "00000149" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "" "0000829607" "00000149" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "" "0000829608" "00000149" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "" "0000829609" "00000149" "50" "16262" "0" "16262" "0" "c.16262A>T" "r.(?)" "p.(Lys5421Met)" "76" "" "0000829610" "00000149" "10" "746" "0" "746" "0" "c.746G>A" "r.(?)" "p.(Arg249Lys)" "7" "" "0000829611" "00000149" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "" "0000829612" "00000149" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "" "0000829613" "00000149" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "" "0000829614" "00000149" "70" "7130" "0" "7130" "0" "c.7130G>A" "r.(?)" "p.(Arg2377Gln)" "32" "" "0000829704" "00000149" "70" "1239" "-8" "1239" "-8" "c.1239-8C>G" "r.(?)" "p.?" "" "" "0000829725" "00000149" "70" "16079" "-1455" "16196" "155" "c.16079-1455_16196+155del" "r.(?)" "p.?" "74i_75i" "" "0000829787" "00000149" "70" "18799" "0" "18799" "0" "c.18799del" "r.(?)" "p.(Thr6267Leufs*22)" "" "" "0000829808" "00000149" "70" "17314" "0" "17314" "0" "c.17314C>T" "r.(?)" "p.(Arg5772*)" "" "" "0000829966" "00000149" "50" "940" "0" "940" "0" "c.940G>A" "r.(?)" "p.(Ala314Thr)" "7" "" "0000829967" "00000149" "50" "3046" "0" "3046" "0" "c.3046G>A" "r.(?)" "p.(Glu1016Lys)" "17" "" "0000839229" "00000149" "70" "4108" "0" "4108" "0" "c.4108T>G" "r.(?)" "p.(Phe1370Val)" "" "" "0000839901" "00000149" "50" "16252" "0" "16252" "0" "c.16252G>A" "r.(?)" "p.(Val5418Met)" "" "" "0000850979" "00000149" "50" "409" "0" "409" "0" "c.409A>G" "r.(?)" "p.(Ile137Val)" "" "" "0000850980" "00000149" "50" "425" "0" "425" "0" "c.425A>G" "r.(?)" "p.(Asn142Ser)" "" "" "0000850981" "00000149" "50" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "" "" "0000850982" "00000149" "30" "2538" "0" "2538" "0" "c.2538G>A" "r.(?)" "p.(Leu846=)" "" "" "0000850983" "00000149" "70" "2898" "0" "2898" "0" "c.2898G>C" "r.(?)" "p.(Glu966Asp)" "" "" "0000850984" "00000149" "30" "5154" "0" "5154" "0" "c.5154C>T" "r.(?)" "p.(Asp1718=)" "" "" "0000850985" "00000149" "50" "5282" "0" "5282" "0" "c.5282C>G" "r.(?)" "p.(Ser1761Cys)" "" "" "0000850986" "00000149" "50" "6620" "0" "6620" "0" "c.6620A>G" "r.(?)" "p.(Asn2207Ser)" "" "" "0000850987" "00000149" "50" "7135" "0" "7135" "0" "c.7135G>A" "r.(?)" "p.(Gly2379Arg)" "" "" "0000850988" "00000149" "50" "8488" "0" "8488" "0" "c.8488C>G" "r.(?)" "p.(Leu2830Val)" "" "" "0000850989" "00000149" "30" "8903" "12" "8903" "12" "c.8903+12G>T" "r.(=)" "p.(=)" "" "" "0000850990" "00000149" "30" "10339" "0" "10339" "0" "c.10339G>A" "r.(?)" "p.(Glu3447Lys)" "" "" "0000850991" "00000149" "30" "11346" "0" "11346" "0" "c.11346G>A" "r.(?)" "p.(Ala3782=)" "" "" "0000850992" "00000149" "90" "11686" "0" "11686" "0" "c.11686del" "r.(?)" "p.(Met3896Trpfs*3)" "" "" "0000850993" "00000149" "90" "14618" "0" "14621" "0" "c.14618_14621del" "r.(?)" "p.(Lys4873Metfs*25)" "" "" "0000850994" "00000149" "90" "14971" "0" "14971" "0" "c.14971C>T" "r.(?)" "p.(Arg4991*)" "" "" "0000850995" "00000149" "50" "15188" "0" "15188" "0" "c.15188T>C" "r.(?)" "p.(Leu5063Pro)" "" "" "0000850996" "00000149" "50" "15440" "0" "15440" "0" "c.15440A>G" "r.(?)" "p.(Asp5147Gly)" "" "" "0000850997" "00000149" "50" "17528" "0" "17528" "0" "c.17528A>G" "r.(?)" "p.(Tyr5843Cys)" "" "" "0000860019" "00000149" "50" "1522" "0" "1522" "0" "c.1522A>C" "r.(?)" "p.(Ile508Leu)" "" "" "0000860020" "00000149" "90" "1850" "0" "1851" "0" "c.1850_1851del" "r.(?)" "p.(Val617Glyfs*15)" "" "" "0000860021" "00000149" "50" "4192" "0" "4192" "0" "c.4192C>T" "r.(?)" "p.(Leu1398Phe)" "" "" "0000860022" "00000149" "30" "7874" "0" "7874" "0" "c.7874G>A" "r.(?)" "p.(Arg2625His)" "" "" "0000860023" "00000149" "50" "8443" "0" "8443" "0" "c.8443A>G" "r.(?)" "p.(Thr2815Ala)" "" "" "0000860024" "00000149" "50" "8465" "0" "8465" "0" "c.8465C>A" "r.(?)" "p.(Pro2822Gln)" "" "" "0000860025" "00000149" "50" "8995" "0" "8995" "0" "c.8995C>G" "r.(?)" "p.(Gln2999Glu)" "" "" "0000860026" "00000149" "70" "10053" "3" "10053" "3" "c.10053+3A>T" "r.spl?" "p.?" "" "" "0000860027" "00000149" "30" "11761" "0" "11761" "0" "c.11761G>A" "r.(?)" "p.(Ala3921Thr)" "" "" "0000860028" "00000149" "50" "11974" "0" "11974" "0" "c.11974G>A" "r.(?)" "p.(Asp3992Asn)" "" "" "0000860029" "00000149" "50" "15953" "0" "15953" "0" "c.15953A>T" "r.(?)" "p.(Asp5318Val)" "" "" "0000860030" "00000149" "90" "16225" "0" "16225" "0" "c.16225C>T" "r.(?)" "p.(Arg5409*)" "" "" "0000860031" "00000149" "30" "18610" "0" "18610" "0" "c.18610G>T" "r.(?)" "p.(Gly6204Cys)" "" "" "0000869469" "00000149" "90" "14720" "0" "14720" "0" "c.14720T>A" "r.(?)" "p.(Val4907Asp)" "72" "" "0000869471" "00000149" "90" "14720" "0" "14720" "0" "c.14720T>A" "r.(?)" "p.(Val4907Asp)" "72" "" "0000869473" "00000149" "90" "16604" "0" "16611" "0" "c.16604_16611del" "r.spl?" "p.(Ser5535Argfs*6)" "77" "" "0000869474" "00000149" "90" "9464" "0" "9464" "0" "c.9464C>A" "r.(?)" "p.(Ala3155Asp)" "44" "" "0000869475" "00000149" "90" "16604" "0" "16611" "0" "c.16604_16611del" "r.spl?" "p.(Ser5535Argfs*6)" "77" "" "0000869476" "00000149" "90" "9464" "0" "9464" "0" "c.9464C>A" "r.(?)" "p.(Ala3155Asp)" "44" "" "0000869477" "00000149" "90" "1054" "0" "1054" "0" "c.1054C>A" "r.(?)" "p.(Pro352Thr)" "7" "" "0000869478" "00000149" "90" "16544" "0" "16544" "0" "c.16544del" "r.(?)" "p.(Leu5515*)" "77" "" "0000869479" "00000149" "90" "15008" "0" "15008" "0" "c.15008del" "r.(?)" "p.(Gly5003Alafs*13)" "74" "" "0000869480" "00000149" "90" "18386" "0" "18389" "0" "c.18386_18389dup" "r.(?)" "p.(His6130Glnfs*84)" "87" "" "0000869481" "00000149" "90" "15008" "0" "15008" "0" "c.15008del" "r.(?)" "p.(Gly5003Alafs*13)" "74" "" "0000869482" "00000149" "90" "18386" "0" "18389" "0" "c.18386_18389dup" "r.(?)" "p.(His6130Glnfs*84)" "87" "" "0000869483" "00000149" "70" "6912" "0" "6912" "0" "c.6912dup" "r.(?)" "p.(Leu2305Valfs*6)" "31" "" "0000886930" "00000149" "30" "4119" "0" "4119" "0" "c.4119G>A" "r.(?)" "p.(Ala1373=)" "" "" "0000886931" "00000149" "10" "5960" "0" "5960" "0" "c.5960C>T" "r.(?)" "p.(Pro1987Leu)" "" "" "0000886932" "00000149" "10" "6695" "0" "6695" "0" "c.6695A>G" "r.(?)" "p.(Tyr2232Cys)" "" "" "0000886933" "00000149" "10" "6952" "-10" "6952" "-10" "c.6952-10G>A" "r.(=)" "p.(=)" "" "" "0000886934" "00000149" "10" "7034" "0" "7034" "0" "c.7034A>G" "r.(?)" "p.(Asn2345Ser)" "" "" "0000886935" "00000149" "10" "7179" "0" "7179" "0" "c.7179C>T" "r.(?)" "p.(Asp2393=)" "" "" "0000886936" "00000149" "10" "7206" "0" "7206" "0" "c.7206G>A" "r.(?)" "p.(Glu2402=)" "" "" "0000886937" "00000149" "30" "9447" "6" "9447" "6" "c.9447+6G>A" "r.(=)" "p.(=)" "" "" "0000886938" "00000149" "70" "9679" "0" "9679" "0" "c.9679C>T" "r.(?)" "p.(Arg3227*)" "" "" "0000886939" "00000149" "30" "10839" "0" "10839" "0" "c.10839A>T" "r.(?)" "p.(Thr3613=)" "" "" "0000886940" "00000149" "30" "12121" "-13" "12121" "-13" "c.12121-13T>C" "r.(=)" "p.(=)" "" "" "0000886941" "00000149" "30" "12687" "0" "12687" "0" "c.12687C>T" "r.(?)" "p.(Pro4229=)" "" "" "0000886942" "00000149" "70" "17688" "0" "17688" "0" "c.17688T>G" "r.(?)" "p.(Tyr5896*)" "" "" "0000886944" "00000149" "30" "17973" "7" "17973" "7" "c.17973+7A>G" "r.(=)" "p.(=)" "" "" "0000905973" "00000149" "50" "6229" "0" "6229" "0" "c.6229G>A" "r.(?)" "p.(Glu2077Lys)" "" "" "0000917863" "00000149" "50" "5525" "-7" "5525" "-7" "c.5525-7C>T" "r.(?)" "p.(=)" "" "" "0000924388" "00000149" "30" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Ala431Val)" "" "" "0000924389" "00000149" "90" "6856" "0" "6856" "0" "c.6856C>T" "r.(?)" "p.(Arg2286*)" "" "" "0000924390" "00000149" "30" "6897" "0" "6897" "0" "c.6897C>T" "r.(?)" "p.(Thr2299=)" "" "" "0000924391" "00000149" "30" "8034" "0" "8034" "0" "c.8034T>G" "r.(?)" "p.(Thr2678=)" "" "" "0000924392" "00000149" "90" "10209" "0" "10209" "0" "c.10209del" "r.(?)" "p.(Val3404Serfs*5)" "" "" "0000927495" "00000149" "30" "411" "0" "411" "0" "c.411A>T" "r.(?)" "p.(Ile137=)" "" "" "0000929112" "00000149" "50" "425" "0" "425" "0" "c.425A>G" "r.(?)" "p.(Asn142Ser)" "" "" "0000929113" "00000149" "90" "2398" "0" "2398" "0" "c.2398C>T" "r.(?)" "p.(Arg800*)" "" "" "0000929114" "00000149" "50" "3073" "0" "3073" "0" "c.3073C>G" "r.(?)" "p.(Leu1025Val)" "" "" "0000929115" "00000149" "50" "8045" "0" "8045" "0" "c.8045G>A" "r.(?)" "p.(Ser2682Asn)" "" "" "0000929116" "00000149" "50" "11975" "0" "11975" "0" "c.11975A>G" "r.(?)" "p.(Asp3992Gly)" "" "" "0000929117" "00000149" "50" "12528" "-17" "12528" "-17" "c.12528-17T>G" "r.(=)" "p.(=)" "" "" "0000929118" "00000149" "50" "15145" "0" "15145" "0" "c.15145G>A" "r.(?)" "p.(Ala5049Thr)" "" "" "0000929119" "00000149" "50" "17996" "0" "17996" "0" "c.17996T>C" "r.(?)" "p.(Leu5999Pro)" "" "" "0000935897" "00000149" "70" "1732" "0" "1732" "0" "c.1732T>A" "r.(?)" "p.(Ser578Thr)" "" "" "0000935924" "00000149" "70" "13452" "0" "13452" "0" "c.13452T>G" "r.(?)" "p.(Ile4484Met)" "" "" "0000935954" "00000149" "90" "16439" "0" "16439" "0" "c.16439G>A" "r.(?)" "p.(Ser5480Asn)" "" "" "0000935962" "00000149" "70" "4123" "0" "4123" "0" "c.4123G>C" "r.(?)" "p.(Asp1375His)" "" "" "0000943888" "00000149" "90" "6017" "0" "6017" "0" "c.6017del" "r.(?)" "p.(Gly2006Alafs*13)" "" "" "0000943889" "00000149" "90" "7188" "0" "7189" "0" "c.7188_7189insN[14]" "r.(?)" "p.(Val2397Leufs*2)" "" "" "0000943905" "00000149" "90" "3232" "0" "3232" "0" "c.3232G>T" "r.(?)" "p.(Glu1078*)" "" "" "0000943919" "00000149" "90" "2063" "0" "2069" "0" "c.2063_2069del" "r.(?)" "p.(Val688Glyfs*3)" "5" "" "0000943952" "00000149" "70" "1055" "0" "1055" "0" "c.1055C>T" "r.(?)" "p.(Pro352Leu)" "" "" "0000948587" "00000149" "30" "500" "0" "500" "0" "c.500T>C" "r.(?)" "p.(Met167Thr)" "" "" "0000948588" "00000149" "30" "2023" "0" "2023" "0" "c.2023A>C" "r.(?)" "p.(Ile675Leu)" "" "" "0000948589" "00000149" "30" "4864" "0" "4864" "0" "c.4864T>C" "r.(?)" "p.(Tyr1622His)" "" "" "0000948590" "00000149" "30" "8204" "0" "8204" "0" "c.8204A>G" "r.(?)" "p.(Asn2735Ser)" "" "" "0000948591" "00000149" "50" "9054" "0" "9054" "0" "c.9054T>G" "r.(?)" "p.(Phe3018Leu)" "" "" "0000948592" "00000149" "30" "10607" "0" "10607" "0" "c.10607G>A" "r.(?)" "p.(Arg3536His)" "" "" "0000948593" "00000149" "30" "10962" "0" "10962" "0" "c.10962T>G" "r.(?)" "p.(=)" "" "" "0000948594" "00000149" "50" "11974" "0" "11974" "0" "c.11974G>A" "r.(?)" "p.(Asp3992Asn)" "" "" "0000948595" "00000149" "50" "12688" "0" "12688" "0" "c.12688G>A" "r.(?)" "p.(Glu4230Lys)" "" "" "0000948596" "00000149" "30" "13887" "0" "13887" "0" "c.13887A>G" "r.(?)" "p.(=)" "" "" "0000948597" "00000149" "30" "14856" "0" "14856" "0" "c.14856C>T" "r.(?)" "p.(=)" "" "" "0000948598" "00000149" "30" "15471" "0" "15471" "0" "c.15471C>T" "r.(?)" "p.(=)" "" "" "0000948599" "00000149" "50" "17735" "0" "17735" "0" "c.17735C>G" "r.(?)" "p.(Ser5912Cys)" "" "" "0000948600" "00000149" "30" "18717" "0" "18717" "0" "c.18717G>A" "r.(?)" "p.(=)" "" "" "0000958423" "00000149" "50" "14432" "0" "14432" "0" "c.14432C>A" "r.(?)" "p.(Pro4811Gln)" "" "" "0000958424" "00000149" "90" "4854" "0" "4869" "0" "c.4854_4869dup" "r.(?)" "p.(Val1624TrpfsTer3)" "" "" "0000958434" "00000149" "50" "9737" "0" "9737" "0" "c.9737C>T" "r.(?)" "p.(Ala3246Val)" "" "" "0000958436" "00000149" "50" "9737" "0" "9737" "0" "c.9737C>T" "r.(?)" "p.(Ala3246Val)" "" "" "0000958540" "00000149" "50" "12539" "0" "12539" "0" "c.12539G>A" "r.(?)" "p.(Gly4180Asp)" "" "" "0000958541" "00000149" "50" "7468" "0" "7468" "0" "c.7468G>A" "r.(?)" "p.(Ala2490Thr)" "" "" "0000958757" "00000149" "70" "8155" "1714" "10549" "5010" "c.8155+1714_10549+5010del" "r.?" "p.?" "" "" "0000958759" "00000149" "90" "10458" "0" "10458" "0" "c.10458G>A" "r.(?)" "p.(Trp3486Ter)" "" "" "0000958773" "00000149" "70" "4378" "0" "4378" "0" "c.4378G>A" "r.(?)" "p.(Gly1460Ser)" "" "" "0000958910" "00000149" "50" "10472" "0" "10472" "0" "c.10472C>G" "r.(?)" "p.(Ser3491Cys)" "" "" "0000958950" "00000149" "70" "5311" "0" "5311" "0" "c.5311C>T" "r.(?)" "p.(Gln1771Ter)" "" "" "0000958982" "00000149" "50" "5443" "0" "5443" "0" "c.5443G>T" "r.(?)" "p.(Val1815Leu)" "" "" "0000959050" "00000149" "50" "13772" "0" "13772" "0" "c.13772C>T" "r.(?)" "p.(Thr4591Ile)" "" "" "0000959208" "00000149" "70" "18883" "0" "18886" "0" "c.18883_18886del" "r.(?)" "p.(Glu6295SerfsTer31)" "" "" "0000959224" "00000149" "90" "6856" "0" "6856" "0" "c.6856C>T" "r.(?)" "p.(Arg2286Ter)" "" "" "0000959343" "00000149" "50" "12005" "0" "12005" "0" "c.12005A>G" "r.(?)" "p.(Asn4002Ser)" "" "" "0000959387" "00000149" "50" "9558" "0" "9558" "0" "c.9558C>T" "r.spl?" "p.(?,Thr3186=)" "" "" "0000960247" "00000149" "50" "6994" "0" "6994" "0" "c.6994A>T" "r.(?)" "p.(Ile2332Phe)" "" "" "0000960283" "00000149" "50" "17461" "0" "17461" "0" "c.17461T>C" "r.(?)" "p.(Ser5821Pro)" "" "" "0000963708" "00000149" "30" "454" "-5" "454" "-5" "c.454-5A>G" "r.spl?" "p.?" "" "" "0000963713" "00000149" "70" "2899" "-1" "2899" "-1" "c.2899-1G>A" "r.spl?" "p.?" "" "" "0000963723" "00000149" "50" "8726" "0" "8726" "0" "c.8726T>C" "r.(?)" "p.(Leu2909Pro)" "" "" "0000963728" "00000149" "90" "11812" "0" "11812" "0" "c.11812C>T" "r.(?)" "p.(Gln3938*)" "" "" "0000963729" "00000149" "30" "14972" "10" "14972" "10" "c.14972+10A>G" "r.(=)" "p.(=)" "" "" "0000963730" "00000149" "90" "15973" "0" "15973" "0" "c.15973C>T" "r.(?)" "p.(Gln5325*)" "" "" "0000963732" "00000149" "50" "18014" "0" "18014" "0" "c.18014A>G" "r.(?)" "p.(His6005Arg)" "" "" "0000976878" "00000149" "70" "395" "0" "395" "0" "c.395del" "r.(?)" "p.(Thr132Metfs*4)" "" "" "0000976879" "00000149" "30" "3151" "0" "3151" "0" "c.3151G>T" "r.(?)" "p.(Asp1051Tyr)" "" "" "0000976880" "00000149" "30" "3191" "0" "3191" "0" "c.3191A>C" "r.(?)" "p.(Glu1064Ala)" "" "" "0000976881" "00000149" "50" "3974" "0" "3974" "0" "c.3974C>T" "r.(?)" "p.(Thr1325Met)" "" "" "0000976882" "00000149" "30" "6095" "0" "6095" "0" "c.6095C>T" "r.(?)" "p.(Ala2032Val)" "" "" "0000976883" "00000149" "90" "8801" "0" "8801" "0" "c.8801C>A" "r.(?)" "p.(Ser2934*)" "" "" "0000976884" "00000149" "30" "10039" "0" "10039" "0" "c.10039T>C" "r.(?)" "p.(Phe3347Leu)" "" "" "0000976886" "00000149" "50" "13919" "0" "13919" "0" "c.13919G>A" "r.(?)" "p.(Gly4640Glu)" "" "" "0000976887" "00000149" "90" "14973" "-2" "14973" "-2" "c.14973-2A>G" "r.spl?" "p.?" "" "" "0000995195" "00000149" "90" "4171" "0" "4171" "0" "c.4171G>T" "r.(?)" "p.(Glu1391*)" "" "" "0000995196" "00000149" "50" "8995" "0" "8995" "0" "c.8995C>G" "r.(?)" "p.(Gln2999Glu)" "" "" "0000995197" "00000149" "30" "9634" "0" "9634" "0" "c.9634A>T" "r.(?)" "p.(Ile3212Leu)" "" "" "0000995198" "00000149" "50" "12272" "0" "12272" "0" "c.12272T>C" "r.(?)" "p.(Leu4091Pro)" "" "" "0000995199" "00000149" "50" "12394" "0" "12394" "0" "c.12394C>G" "r.(?)" "p.(Pro4132Ala)" "" "" "0000995200" "00000149" "30" "12536" "0" "12536" "0" "c.12536G>A" "r.(?)" "p.(Arg4179Gln)" "" "" "0000995201" "00000149" "90" "13893" "1" "13893" "1" "c.13893+1G>A" "r.spl?" "p.?" "" "" "0000995202" "00000149" "50" "14932" "0" "14932" "0" "c.14932T>C" "r.(?)" "p.(Ser4978Pro)" "" "" "0000995203" "00000149" "30" "16267" "0" "16267" "0" "c.16267G>A" "r.(?)" "p.(Gly5423Arg)" "" "" "0001014149" "00000149" "30" "2241" "-10" "2241" "-10" "c.2241-10A>T" "r.(=)" "p.(=)" "" "" "0001014150" "00000149" "90" "2409" "0" "2409" "0" "c.2409dup" "r.(?)" "p.(Ser804Valfs*4)" "" "" "0001014151" "00000149" "90" "17668" "0" "17669" "0" "c.17668_17669del" "r.(?)" "p.(Met5890ValfsTer10)" "" "" "0001022233" "00000149" "70" "8567" "-5" "8567" "-5" "c.8567-5A>G" "r.8566_8567ins8567-4_8567-1" "p.Gly2856ValfsTer30" "37i" "" "0001022255" "00000149" "90" "1603" "0" "1603" "0" "c.1603C>T" "r.(?)" "p.(Arg535Ter)" "" "" "0001022274" "00000149" "90" "4937" "0" "4938" "0" "c.4937_4938insCA" "r.(?)" "p.(Val1649MetfsTer16)" "" "" "0001022327" "00000149" "90" "10888" "0" "10888" "0" "c.10888G>T" "r.(?)" "p.(Gly3630Ter)" "" "" "0001025143" "00000149" "90" "12535" "0" "12535" "0" "c.12535C>T" "r.(?)" "p.(Arg4179*)" "" "" "0001025144" "00000149" "90" "18025" "0" "18025" "0" "c.18025C>T" "r.(?)" "p.(Arg6009*)" "" "" "0001030117" "00000149" "70" "9335" "0" "9336" "0" "c.9335_9336inv" "r.(?)" "p.(Phe3112*)" "" "" "0001035334" "00000149" "30" "22" "9" "22" "9" "c.22+9T>C" "r.(=)" "p.(=)" "" "" "0001035335" "00000149" "30" "581" "0" "581" "0" "c.581C>A" "r.(?)" "p.(Pro194His)" "" "" "0001035336" "00000149" "50" "1718" "0" "1718" "0" "c.1718G>T" "r.(?)" "p.(Gly573Val)" "" "" "0001035337" "00000149" "30" "1839" "7" "1839" "7" "c.1839+7G>A" "r.(=)" "p.(=)" "" "" "0001035338" "00000149" "90" "2461" "0" "2461" "0" "c.2461G>T" "r.(?)" "p.(Glu821*)" "" "" "0001035339" "00000149" "50" "3018" "0" "3018" "0" "c.3018T>C" "r.(?)" "p.(=)" "" "" "0001035340" "00000149" "30" "3559" "0" "3559" "0" "c.3559A>G" "r.(?)" "p.(Ile1187Val)" "" "" "0001035341" "00000149" "50" "3860" "0" "3860" "0" "c.3860T>C" "r.(?)" "p.(Ile1287Thr)" "" "" "0001035342" "00000149" "30" "4214" "0" "4214" "0" "c.4214C>T" "r.(?)" "p.(Ser1405Phe)" "" "" "0001035343" "00000149" "50" "4373" "0" "4373" "0" "c.4373C>G" "r.(?)" "p.(Thr1458Ser)" "" "" "0001035344" "00000149" "50" "4666" "0" "4666" "0" "c.4666G>A" "r.(?)" "p.(Glu1556Lys)" "" "" "0001035345" "00000149" "50" "5651" "0" "5651" "0" "c.5651C>T" "r.(?)" "p.(Thr1884Ile)" "" "" "0001035346" "00000149" "30" "6608" "0" "6608" "0" "c.6608T>C" "r.(?)" "p.(Val2203Ala)" "" "" "0001035347" "00000149" "50" "9100" "0" "9100" "0" "c.9100G>A" "r.(?)" "p.(Asp3034Asn)" "" "" "0001035348" "00000149" "50" "9440" "0" "9440" "0" "c.9440G>A" "r.(?)" "p.(Arg3147Gln)" "" "" "0001035349" "00000149" "30" "9643" "0" "9643" "0" "c.9643G>A" "r.(?)" "p.(Glu3215Lys)" "" "" "0001035350" "00000149" "50" "10839" "0" "10839" "0" "c.10839A>T" "r.(?)" "p.(Thr3613=)" "" "" "0001035351" "00000149" "30" "12349" "0" "12349" "0" "c.12349C>T" "r.(?)" "p.(Arg4117Cys)" "" "" "0001035352" "00000149" "30" "12592" "0" "12592" "0" "c.12592G>A" "r.(?)" "p.(Val4198Met)" "" "" "0001035353" "00000149" "30" "14515" "0" "14515" "0" "c.14515C>G" "r.(?)" "p.(Gln4839Glu)" "" "" "0001035354" "00000149" "30" "14718" "0" "14718" "0" "c.14718C>T" "r.(?)" "p.(=)" "" "" "0001035355" "00000149" "50" "16514" "0" "16514" "0" "c.16514G>A" "r.(?)" 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