### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RET) # 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}}" "RET" "ret proto-oncogene" "10" "q11.2" "unknown" "NG_007489.1" "UD_129588635232" "" "http://www.LOVD.nl/RET" "" "1" "9967" "5979" "164761" "1" "1" "1" "1" "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/RET_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2016-11-25 15:27:56" "00000" "2025-10-03 10:48:03" ## 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}}" "00017640" "RET" "transcript variant 2" "001" "NM_020975.4" "" "NP_066124.1" "" "" "" "-190" "5427" "3345" "43572517" "43625799" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 15 "{{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" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00900" "CCHS" "hypoventilation, central, syndrome, congenital, with/without Hirschsprung disease (CCHS1)" "AD" "209880" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01365" "HSCR1" "Hirschsprung disease, type 1 (HSCR1)" "AD" "142623" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-07-31 12:29:23" "01428" "MTC" "carcinoma, thyroid, medullary, familial (MTC)" "AD" "155240" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01465" "MEN2B" "neoplasia, endocrine, multiple, type IIb (MEN-2B)" "AD" "162300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01503" "pheochromocytoma" "pheochromocytoma (susceptibility to)" "AD" "171300" "cerebral cortex" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-01-04 19:51:33" "01504" "MEN2A" "neoplasia, endocrine, multiple, type II1 (MEN-2A)" "AD" "171400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01966" "HHF1" "hypoglycemia, hyperinsulinemic, familial, type 1(HHF-1)" "AD;AR" "256450" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04296" "MINAS" "neoplasia, multiple inherited alleles (MINAS)" "AD;AR;SMo" "" "" "" "" "00006" "2015-07-02 09:20:44" "00006" "2021-12-10 21:51:32" "05093" "cancer" "cancer" "" "" "" "" "" "00006" "2015-10-23 13:34:05" "" "" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" "05863" "HSCR" "Hirschsprung disease (HSCR)" "" "" "" "" "" "00006" "2020-10-26 17:45:34" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "RET" "01365" "RET" "01428" "RET" "01465" "RET" "01503" "RET" "01504" ## Individuals ## Do not remove or alter this header ## ## Count = 86 "{{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}}" "00036659" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036660" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036661" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036662" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036663" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036664" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036665" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036666" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036667" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036668" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036669" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036670" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036671" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036672" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036673" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036674" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036675" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036676" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036677" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00047320" "" "" "" "1" "" "00727" "{PMID:Foppiani 2008:18299477}" "" "M" "" "(Italy)" "" "0" "" "" "" "" "00047856" "" "" "" "1" "" "00727" "{PMID:Mastroianno 2011:21678021}" "" "M" "" "(Italy)" "" "0" "" "" "" "" "00047857" "" "" "" "1" "" "00727" "{PMID:Mastroianno 2011:21678021}" "" "M" "" "(Italy)" "" "0" "" "" "" "" "00047858" "" "" "" "1" "" "00727" "{PMID:Mastroianno 2011:21678021}" "" "M" "" "(Italy)" "" "0" "" "" "" "" "00047859" "" "" "" "1" "" "00727" "{PMID:Mastroianno 2011:21678021}" "" "F" "" "(Italy)" "" "0" "" "" "" "" "00047871" "" "" "" "1" "" "00727" "{PMID:Ercolino 2014:24361808}" "" "M" "" "(Italy)" "" "0" "" "" "" "26" "00081502" "" "" "" "1" "" "00006" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" "00208623" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00210007" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00222830" "" "" "" "1" "" "03007" "" "" "M" "" "" "" "0" "" "" "" "" "00222831" "" "" "" "1" "" "03007" "" "" "M" "" "" "" "0" "" "" "" "" "00222832" "" "" "" "1" "" "03007" "" "" "" "" "" "" "0" "" "" "" "" "00222833" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00222834" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00222835" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00222836" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00222837" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00222838" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00222839" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00222840" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00222841" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00222842" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00222843" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00222844" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00222845" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00222846" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00222847" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00222848" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00222849" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00222850" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00222851" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00222852" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00222853" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00222854" "" "" "" "1" "" "03007" "" "" "M" "" "" "" "0" "" "" "" "" "00222855" "" "" "" "1" "" "03007" "" "" "" "" "" "" "0" "" "" "" "" "00290039" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290040" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290041" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290042" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290043" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290044" "" "" "" "182" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295595" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00304242" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307087" "" "" "" "2" "" "03750" "" "" "M" "yes" "Spain" "" "0" "" "" "" "" "00308730" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00316148" "" "" "" "2" "" "00006" "{PMID:Heidet 2017:28566479}" "affected fetus and 1st degree relative" "" "" "France" "" "0" "" "" "" "K3" "00316150" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "fetus" "" "" "France" "" "0" "" "" "" "K32" "00316180" "" "" "" "2" "" "00006" "{PMID:Heidet 2017:28566479}" "affected patient and uncle/aunt/cousin" "" "" "France" "" "0" "" "" "" "K83" "00316185" "" "" "" "2" "" "00006" "{PMID:Heidet 2017:28566479}" "affected patient and 1st degree relative" "" "" "France" "" "0" "" "" "" "K91" "00375209" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00396847" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396848" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396849" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396850" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396851" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396852" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396853" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396854" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396855" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396856" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396857" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00406993" "" "" "" "2" "" "00006" "{PMID:Jiang 2022:33563768}" "analysis 486 colorectal cancer patients" "" "" "China" "" "0" "" "" "" "" "00433144" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "monozygotic twins" "F" "" "Ecuador" "" "0" "" "" "" "Pat125,1" "00436397" "" "" "" "1" "" "03628" "" "" "M" "no" "Hungary" "" "" "" "" "" "" "00451461" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Co-occurrence of two different monogenic diseases (a pathogenic variant in the RET gene was identified as a secondary finding)" "M" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-045" "00460296" "" "" "" "1" "" "02765" "" "" "M" "no" "" "" "0" "" "" "Caucasian" "" "00466028" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 67 "{{individualid}}" "{{diseaseid}}" "00036665" "00198" "00036677" "00198" "00047320" "04296" "00047856" "04296" "00047857" "04296" "00047858" "04296" "00047859" "04296" "00047871" "04296" "00081502" "00900" "00222830" "01365" "00222831" "01365" "00222832" "01365" "00222833" "01428" "00222834" "01428" "00222835" "01428" "00222836" "01428" "00222837" "01428" "00222838" "01428" "00222839" "01428" "00222840" "01428" "00222841" "01428" "00222842" "01428" "00222843" "01428" "00222844" "01428" "00222845" "01428" "00222846" "01428" "00222847" "01428" "00222848" "01428" "00222849" "01428" "00222850" "01428" "00222851" "01428" "00222852" "01428" "00222853" "01428" "00222854" "01365" "00222855" "01365" "00290039" "00198" "00290040" "00198" "00290041" "00198" "00290042" "00198" "00290043" "00198" "00290044" "00198" "00295595" "00198" "00304242" "00198" "00307087" "01365" "00308730" "00000" "00316148" "05342" "00316150" "05342" "00316180" "05342" "00316185" "05342" "00375209" "00198" "00396847" "00198" "00396848" "00198" "00396849" "00198" "00396850" "00198" "00396851" "00198" "00396852" "00198" "00396853" "00198" "00396854" "00198" "00396855" "00198" "00396856" "00198" "00396857" "00198" "00406993" "05489" "00433144" "05292" "00436397" "05093" "00451461" "01966" "00460296" "00198" "00466028" "05863" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00900, 01365, 01428, 01465, 01503, 01504, 01966, 04296, 05093, 05292, 05342, 05489, 05863 ## Count = 31 "{{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/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000034723" "04296" "00047320" "00727" "Unknown" "" "neoplasia, multiple inherited alleles; cutaneous malignant melanoma <55y; Parathyroid chief cell adenoma 55y; Thyroid sclerotic papillary carcinoma 55y; Thyroid C cell hyperplasia 55y" "" "" "" "" "" "" "" "" "" "" "neoplasia, multiple inherited alleles (MINAS)" "" "0000034776" "04296" "00047871" "00006" "Unknown" "" "macrocephaly, café au lait patches and axillary freckling 57y; Kyphoscoliosis 57y; Multiple cutaneous neurofibromas 57y; Thyroid C-cell hyperplasia 57y; Parathyroid hyperplasia 57y" "" "" "" "" "" "" "" "" "" "" "neoplasia, multiple inherited alleles (MINAS)" "" "0000035016" "04296" "00047859" "00006" "Unknown" "" "primary hyperparathyroidism 13y; Pituitary tumour 15y" "" "" "" "" "" "" "" "" "" "" "neoplasia, multiple inherited alleles (MINAS)" "" "0000035017" "04296" "00047858" "00006" "Unknown" "" "no features 6y" "" "" "" "" "" "" "" "" "" "" "neoplasia, multiple inherited alleles (MINAS)" "" "0000035256" "04296" "00047857" "00006" "Unknown" "" "primary hyperparathyroidism 40y; Cushing syndrome (implied pituitary origin) 40y; Carcinoid tumour 40y; Lipoma 40y; Angiofibroma 40y; Papillary thyroid cancer 40y; Medullary thyroid cancer 40y; Gastrinoma 41y" "" "" "" "" "" "" "" "" "" "" "neoplasia, multiple inherited alleles (MINAS)" "" "0000035257" "04296" "00047856" "00006" "Unknown" "" "pituitary tumour 38y; Primary hyperparathyroidism 45y; Papillary thyroid cancer 46y; Medullary thyroid cancer 46y; Gastric carcinoid tumour 47y; Gastrinoma" "" "" "" "" "" "" "" "" "" "" "neoplasia, multiple inherited alleles (MINAS)" "" "0000061104" "00900" "00081502" "00006" "Isolated (sporadic)" "" "autonomic nervous system dysfunction (decreased heart rate variability, abnormal pupillary reaction to light); Hirschsprung disease (HP:0002251, LS); no tumour" "" "" "" "" "" "" "" "" "" "" "" "" "0000156622" "00198" "00036665" "01164" "Unknown" "" "medullar thyroid cancer" "" "" "" "" "" "" "" "" "" "" "medullar thyroid cancer" "" "0000156623" "00198" "00036677" "01164" "Unknown" "" "MEN2A" "" "" "" "" "" "" "" "" "" "" "MEN2A" "" "0000223160" "00198" "00295595" "01164" "Unknown" "" "Breast carcinoma (HP:0003002)" "" "" "" "" "" "" "" "" "" "" "" "" "0000232906" "01365" "00307087" "03750" "Familial, autosomal recessive" "01y" "HP:0002251" "01y" "15y" "HP:0002251" "" "" "" "" "" "" "HSCR1" "Hirschsprung disease" "" "0000239895" "05342" "00316148" "00006" "Unknown" "" "bilateral kidney agenesis; rigth ventricular dilation" "" "" "" "" "" "" "" "" "" "" "bilateral kidney agenesis" "" "0000239897" "05342" "00316150" "00006" "Unknown" "" "renal hypoplasia" "" "" "" "" "" "" "" "" "" "" "renal hypoplasia" "" "0000239927" "05342" "00316180" "00006" "Unknown" "" "bilateral multicystic dysplasia" "" "" "" "" "" "" "" "" "" "" "bilateral multicystic dysplasia" "" "0000239932" "05342" "00316185" "00006" "Unknown" "" "unilateral kidney agenesis" "" "" "" "" "" "" "" "" "" "" "unilateral kidney agenesis" "" "0000270419" "00198" "00375209" "01164" "Unknown" "" "Abdominal symptom (HP:0011458); Neurodevelopmental abnormality (HP:0012759); Constipation (HP:0002019); Delayed speech and language development (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "" "0000290005" "00198" "00396847" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000290006" "00198" "00396848" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000290007" "00198" "00396849" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000290008" "00198" "00396850" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000290009" "00198" "00396851" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000290010" "00198" "00396852" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000290011" "00198" "00396853" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000290012" "00198" "00396854" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000290013" "00198" "00396855" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000290014" "00198" "00396856" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000290015" "00198" "00396857" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000323670" "05292" "00433144" "00006" "Unknown" "6m" "immuno-osseous dysplasia, chromosomal disorder and other syndromic primary immunodeficiency diseases" "" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000326577" "05093" "00436397" "03628" "Unknown" "" "adrenocortical cancer" "" "33y" "" "" "" "" "" "" "" "" "" "" "0000340198" "01966" "00451461" "04221" "Familial, autosomal dominant" "" "Seizure, chronic constipation, \r\nAttention deficit hyperactivity disorder. Secondary finding: Multiple endocrine neoplasia, Type IIA (OMIM: 171400)" "" "21y" "" "" "" "" "" "" "" "Hyperinsulinemic hypoglycemia, familial, 1" "Hyperinsulinemic hypoglycemia" "" "0000348025" "00198" "00460296" "02765" "Familial, autosomal dominant" "74" "27y-medullary thyroid cancer;73y-clear cell renal cell carcinoma" "" "27" "" "" "" "" "" "" "" "MEN2" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 86 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000036729" "00036659" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036730" "00036660" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036731" "00036661" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036732" "00036662" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036733" "00036663" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036734" "00036664" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036735" "00036665" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036736" "00036666" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036737" "00036667" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036738" "00036668" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036739" "00036669" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036740" "00036670" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036741" "00036671" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036742" "00036672" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036743" "00036673" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036744" "00036674" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036745" "00036675" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036746" "00036676" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036747" "00036677" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000047419" "00047320" "1" "00727" "00727" "2015-08-20 17:20:40" "" "" "SEQ" "DNA" "" "" "0000047982" "00047856" "1" "00727" "00727" "2015-08-28 15:50:55" "" "" "SEQ" "DNA" "" "" "0000047983" "00047857" "1" "00727" "00727" "2015-08-28 16:27:38" "" "" "SEQ" "DNA" "" "" "0000047984" "00047858" "1" "00727" "00727" "2015-08-28 16:29:40" "" "" "SEQ" "DNA" "" "" "0000047985" "00047859" "1" "00727" "00727" "2015-08-28 16:31:59" "" "" "SEQ" "DNA" "" "" "0000047997" "00047871" "1" "00727" "00727" "2015-09-01 12:22:25" "" "" "SEQ" "DNA" "" "" "0000081632" "00081502" "1" "00006" "00006" "2016-10-16 10:43:07" "" "" "SEQ" "DNA" "" "" "0000209672" "00208623" "1" "01164" "01164" "2018-12-12 12:06:13" "" "" "SEQ-NG" "DNA" "" "" "0000211064" "00210007" "1" "01164" "01164" "2018-12-25 09:53:54" "" "" "SEQ-NG" "DNA" "" "" "0000223902" "00222830" "1" "03007" "03007" "2013-01-30 09:35:07" "03007" "2013-02-14 08:53:21" "SEQ" "DNA" "" "" "0000223903" "00222831" "1" "03007" "03007" "2013-01-30 09:23:38" "03007" "2013-02-14 08:57:26" "SEQ" "DNA" "" "" "0000223904" "00222832" "1" "03007" "03007" "2013-02-14 08:41:15" "" "" "SEQ" "DNA" "" "" "0000223905" "00222833" "1" "00000" "00002" "2011-05-23 16:44:54" "00002" "2011-05-23 17:01:21" "?" "?" "" "" "0000223906" "00222834" "1" "00000" "00002" "2011-05-23 16:53:51" "00002" "2011-05-23 17:01:53" "?" "?" "" "" "0000223907" "00222835" "1" "00000" "00002" "2011-05-23 16:58:50" "00002" "2011-05-23 17:02:40" "?" "?" "" "" "0000223908" "00222836" "1" "00000" "00002" "2011-05-23 17:03:28" "" "" "?" "?" "" "" "0000223909" "00222837" "1" "00000" "00002" "2011-05-23 17:05:06" "" "" "?" "?" "" "" "0000223910" "00222838" "1" "00000" "00002" "2011-05-23 17:07:19" "" "" "?" "?" "" "" "0000223911" "00222839" "1" "00000" "00002" "2011-05-23 17:11:36" "" "" "?" "?" "" "" "0000223912" "00222840" "1" "00000" "00002" "2011-05-23 17:15:09" "" "" "?" "?" "" "" "0000223913" "00222841" "1" "00000" "00002" "2011-05-23 17:09:41" "" "" "?" "?" "" "" "0000223914" "00222842" "1" "00000" "00002" "2011-05-23 17:18:38" "" "" "?" "?" "" "" "0000223915" "00222843" "1" "00000" "00002" "2011-05-23 17:20:55" "" "" "?" "?" "" "" "0000223916" "00222844" "1" "00000" "00002" "2011-05-23 17:23:20" "" "" "?" "?" "" "" "0000223917" "00222845" "1" "00000" "00002" "2011-05-23 17:27:33" "" "" "?" "?" "" "" "0000223918" "00222846" "1" "00000" "00002" "2011-05-23 17:25:27" "" "" "?" "?" "" "" "0000223919" "00222847" "1" "00000" "00002" "2011-05-23 17:29:07" "" "" "?" "?" "" "" "0000223920" "00222848" "1" "00000" "00002" "2011-05-23 17:32:25" "" "" "?" "?" "" "" "0000223921" "00222849" "1" "00000" "00002" "2011-05-23 17:34:20" "" "" "?" "?" "" "" "0000223922" "00222850" "1" "00000" "00002" "2011-05-23 17:36:01" "" "" "?" "?" "" "" "0000223923" "00222851" "1" "00000" "00002" "2011-05-23 17:37:43" "" "" "?" "?" "" "" "0000223924" "00222852" "1" "00000" "00002" "2011-05-23 17:41:15" "" "" "?" "?" "" "" "0000223925" "00222853" "1" "00000" "00002" "2011-05-23 17:39:21" "" "" "?" "?" "" "" "0000223926" "00222854" "1" "03007" "03007" "2013-01-30 09:29:14" "03007" "2013-02-14 08:59:14" "SEQ" "DNA" "" "" "0000223927" "00222855" "1" "03007" "03007" "2013-02-14 08:47:28" "00006" "2013-02-15 17:18:22" "SEQ" "DNA" "" "" "0000291207" "00290039" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291208" "00290040" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291209" "00290041" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291210" "00290042" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291211" "00290043" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291212" "00290044" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296765" "00295595" "1" "01164" "01164" "2020-03-18 10:49:30" "" "" "SEQ-NG-S" "DNA" "" "" "0000305371" "00304242" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308229" "00307087" "1" "03750" "03750" "2020-07-30 19:13:16" "03750" "2020-07-30 19:37:35" "SEQ-NG" "DNA" "" "WES" "0000309875" "00308730" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000317330" "00316148" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000317332" "00316150" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000317362" "00316180" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000317367" "00316185" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000376403" "00375209" "1" "01164" "01164" "2021-05-31 12:03:02" "" "" "SEQ-NG-S" "DNA" "" "" "0000398088" "00396847" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ" "DNA" "" "" "0000398089" "00396848" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ" "DNA" "" "" "0000398090" "00396849" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ" "DNA" "" "" "0000398091" "00396850" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ" "DNA" "" "" "0000398092" "00396851" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ" "DNA" "" "" "0000398093" "00396852" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ" "DNA" "" "" "0000398094" "00396853" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ" "DNA" "" "" "0000398095" "00396854" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ" "DNA" "" "" "0000398096" "00396855" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ" "DNA" "" "" "0000398097" "00396856" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ" "DNA" "" "" "0000398098" "00396857" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ" "DNA" "" "" "0000408239" "00406993" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000434575" "00433144" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000437879" "00436397" "1" "03628" "03628" "2023-09-10 14:52:41" "" "" "SEQ;SEQ-NG-I" "DNA" "PBMC" "Illumina Hereditary cancer panel incl 113 tumor susceptibility genes" "0000453062" "00451461" "1" "04221" "04221" "2024-06-06 23:12:59" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000461928" "00460296" "1" "02765" "02765" "2025-01-22 23:12:01" "" "" "SEQ-NG-I" "DNA" "" "" "0000467679" "00466028" "1" "01741" "01741" "2025-07-08 10:26:56" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 89 "{{screeningid}}" "{{geneid}}" "0000036729" "RET" "0000036730" "RET" "0000036731" "RET" "0000036732" "RET" "0000036733" "RET" "0000036734" "RET" "0000036735" "RET" "0000036736" "RET" "0000036737" "RET" "0000036738" "RET" "0000036739" "RET" "0000036740" "RET" "0000036741" "RET" "0000036742" "RET" "0000036743" "RET" "0000036744" "RET" "0000036745" "RET" "0000036746" "RET" "0000036747" "RET" "0000047419" "RET" "0000047982" "MEN1" "0000047982" "RET" "0000047983" "MEN1" "0000047983" "RET" "0000047984" "MEN1" "0000047984" "RET" "0000047985" "MEN1" "0000047985" "RET" "0000047997" "NF1" "0000047997" "RET" "0000081632" "PHOX2B" "0000223902" "RET" "0000223903" "RET" "0000223904" "RET" "0000223905" "RET" "0000223906" "RET" "0000223907" "RET" "0000223908" "RET" "0000223909" "RET" "0000223910" "RET" "0000223911" "RET" "0000223912" "RET" "0000223913" "RET" "0000223914" "RET" "0000223915" "RET" "0000223916" "RET" "0000223917" "RET" "0000223918" "RET" "0000223919" "RET" "0000223920" "RET" "0000223921" "RET" "0000223922" "RET" "0000223923" "RET" "0000223924" "RET" "0000223925" "RET" "0000223926" "RET" "0000223927" "RET" "0000308229" "ASCL1" "0000308229" "BDNF" "0000308229" "CYP2B6" "0000308229" "ECE1" "0000308229" "EDN3" "0000308229" "EDNRB" "0000308229" "GDNF" "0000308229" "GEMIN2" "0000308229" "MITF" "0000308229" "RET" "0000309875" "RET" "0000317330" "RET" "0000317332" "NOTCH2" "0000317332" "RET" "0000317362" "RET" "0000317367" "RET" "0000398088" "RET" "0000398089" "RET" "0000398090" "RET" "0000398091" "RET" "0000398092" "RET" "0000398093" "RET" "0000398094" "RET" "0000398095" "RET" "0000398096" "RET" "0000398097" "RET" "0000398098" "RET" "0000453062" "ABCC8" "0000461928" "RET" "0000467679" "EDN3" "0000467679" "EDNRB" "0000467679" "RET" ## 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 = 295 "{{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}}" "0000063854" "1" "90" "10" "43609949" "43609949" "subst" "4.1247E-6" "01164" "RET_000113" "g.43609949G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43114501G>T" "" "pathogenic" "" "0000063855" "1" "90" "10" "43609948" "43609948" "subst" "1.23759E-5" "01164" "RET_000111" "g.43609948T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43114500T>C" "" "pathogenic" "" "0000063856" "1" "90" "10" "43609949" "43609949" "subst" "4.1247E-6" "01164" "RET_000114" "g.43609949G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43114501G>A" "" "pathogenic" "" "0000063857" "1" "90" "10" "43609103" "43609103" "subst" "0" "01164" "RET_000020" "g.43609103G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43113655G>T" "" "pathogenic" "" "0000063858" "1" "90" "10" "43609097" "43609097" "subst" "0" "01164" "RET_000012" "g.43609097G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43113649G>C" "" "pathogenic" "" "0000063859" "1" "90" "10" "43609096" "43609096" "subst" "4.09293E-6" "01164" "RET_000010" "g.43609096T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43113648T>C" "" "pathogenic" "" "0000063860" "1" "50" "10" "43612233" "43612233" "subst" "0" "01164" "RET_000103" "g.43612233C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43116785C>T" "" "VUS" "" "0000063861" "1" "90" "10" "43609076" "43609076" "subst" "0" "01164" "RET_000006" "g.43609076G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43113628G>A" "" "pathogenic" "" "0000063862" "1" "90" "10" "43609069" "43609069" "subst" "0" "01164" "RET_000001" "g.43609069T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43113621T>C" "" "pathogenic" "" "0000063863" "1" "90" "10" "43613906" "43613906" "subst" "2.03174E-5" "01164" "RET_000104" "g.43613906G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43118458G>T" "" "pathogenic" "" "0000063864" "1" "10" "10" "43613908" "43613908" "subst" "0.00209292" "01164" "RET_000105" "g.43613908A>T" "" "" "" "" "" "Germline" "" "rs77742903" "0" "" "" "g.43118460A>T" "" "benign" "" "0000063865" "1" "50" "10" "43600328" "43600329" "del" "0" "01164" "RET_000119" "g.43600328_43600329del" "" "" "" "" "" "Germline" "" "rs66654736" "0" "" "" "g.43104880_43104881del" "" "VUS" "" "0000063866" "1" "90" "10" "43615610" "43615610" "subst" "0" "01164" "RET_000101" "g.43615610C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43120162C>T" "" "pathogenic" "" "0000063867" "1" "90" "10" "43609948" "43609948" "subst" "0" "01164" "RET_000112" "g.43609948T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43114500T>A" "" "pathogenic" "" "0000063868" "1" "90" "10" "43614996" "43614996" "subst" "0.000126701" "01164" "RET_000106" "g.43614996G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43119548G>A" "" "pathogenic" "" "0000063869" "1" "90" "10" "43617416" "43617416" "subst" "4.06062E-6" "01164" "RET_000102" "g.43617416T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43121968T>C" "" "pathogenic" "" "0000063870" "1" "90" "10" "43615592" "43615592" "subst" "1.22021E-5" "01164" "RET_000107" "g.43615592T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43120144T>G" "" "pathogenic" "" "0000063871" "1" "10" "10" "43610129" "43610129" "subst" "0.000118363" "01164" "RET_000115" "g.43610129G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43114681G>A" "" "benign" "" "0000063872" "1" "90" "10" "43609939" "43609939" "subst" "4.13555E-6" "01164" "RET_000110" "g.43609939G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43114491G>T" "" "pathogenic" "" "0000076110" "0" "90" "10" "43614996" "43614996" "subst" "0.000126701" "00727" "RET_000106" "g.43614996G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43119548G>A" "" "pathogenic" "" "0000076755" "0" "90" "10" "43610045" "43610045" "subst" "0" "00727" "RET_000221" "g.43610045A>T" "" "{PMID:Mastroianno 2011:21678021}" "" "" "" "Germline" "" "" "0" "" "" "g.43114597A>T" "" "pathogenic" "" "0000076758" "0" "90" "10" "43610045" "43610045" "subst" "0" "00727" "RET_000221" "g.43610045A>T" "" "{PMID:Mastroianno 2011:21678021}" "" "" "" "Germline" "" "" "0" "" "" "g.43114597A>T" "" "pathogenic" "" "0000076759" "0" "90" "10" "43610045" "43610045" "subst" "0" "00727" "RET_000221" "g.43610045A>T" "" "{PMID:Mastroianno 2011:21678021}" "" "" "" "Germline" "" "" "0" "" "" "g.43114597A>T" "" "pathogenic" "" "0000076762" "0" "90" "10" "43610045" "43610045" "subst" "0" "00727" "RET_000221" "g.43610045A>T" "" "{PMID:Mastroianno 2011:21678021}" "" "" "" "Germline" "" "" "0" "" "" "g.43114597A>T" "" "pathogenic" "" "0000076784" "0" "90" "10" "43614996" "43614996" "subst" "0.000126701" "00727" "RET_000106" "g.43614996G>A" "" "{PMID:Ercolino 2014:24361808}" "" "" "" "Germline" "" "" "0" "" "" "g.43119548G>A" "" "pathogenic" "" "0000132304" "1" "50" "10" "43622099" "43622099" "subst" "2.8425E-5" "00006" "RET_000222" "g.43622099C>T" "" "{PMID:Amiel 2003:12640453}, {DOI:Amiel 2003:10.1038/ng1130}" "" "P1039L" "" "Germline" "" "" "0" "" "" "g.43126651C>T" "" "VUS" "" "0000248197" "0" "10" "10" "43606687" "43606687" "subst" "0.695594" "02325" "RET_000234" "g.43606687A>G" "" "" "" "RET(NM_020975.4):c.1296A>G (p.A432=), RET(NM_020975.6):c.1296A>G (p.A432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43111239A>G" "" "benign" "" "0000248627" "0" "10" "10" "43595968" "43595968" "subst" "0.730852" "02325" "RET_000224" "g.43595968A>G" "" "" "" "RET(NM_020975.4):c.135A>G (p.A45=), RET(NM_020975.6):c.135A>G (p.A45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43100520A>G" "" "benign" "" "0000250395" "0" "30" "10" "43622095" "43622095" "subst" "0.000605032" "02329" "RET_000252" "g.43622095A>G" "" "" "" "RET(NM_020975.4):c.3112A>G (p.T1038A), RET(NM_020975.6):c.3112A>G (p.(Thr1038Ala), p.T1038A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43126647A>G" "" "likely benign" "" "0000250900" "0" "10" "10" "43606687" "43606687" "subst" "0.695594" "02326" "RET_000234" "g.43606687A>G" "" "" "" "RET(NM_020975.4):c.1296A>G (p.A432=), RET(NM_020975.6):c.1296A>G (p.A432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43111239A>G" "" "benign" "" "0000252797" "0" "50" "10" "43613908" "43613908" "subst" "0.00209292" "02326" "RET_000105" "g.43613908A>T" "" "" "" "RET(NM_020975.4):c.2372A>T (p.Y791F), RET(NM_020975.6):c.2372A>T (p.Y791F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43118460A>T" "" "VUS" "" "0000297646" "0" "10" "10" "43622217" "43622217" "subst" "0.790877" "02325" "RET_000253" "g.43622217T>C" "" "" "" "RET(NM_020630.7):c.*15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43126769T>C" "" "benign" "" "0000297648" "0" "30" "10" "43595999" "43595999" "subst" "0.00275005" "02325" "RET_000226" "g.43595999C>A" "" "" "" "RET(NM_020630.4):c.166C>A (p.(Leu56Met)), RET(NM_020975.6):c.166C>A (p.L56M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43100551C>A" "" "likely benign" "" "0000297649" "0" "10" "10" "43610119" "43610119" "subst" "0.210975" "02325" "RET_000242" "g.43610119G>A" "" "" "" "RET(NM_020975.4):c.2071G>A (p.G691S), RET(NM_020975.6):c.2071G>A (p.G691S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43114671G>A" "" "benign" "" "0000297650" "0" "10" "10" "43613843" "43613843" "subst" "0.739176" "02325" "RET_000243" "g.43613843G>T" "" "" "" "RET(NM_020975.4):c.2307G>T (p.L769=), RET(NM_020975.6):c.2307G>T (p.L769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43118395G>T" "" "benign" "" "0000297652" "0" "30" "10" "43613867" "43613867" "subst" "3.24939E-5" "02325" "RET_000245" "g.43613867C>T" "" "" "" "RET(NM_020975.4):c.2331C>T (p.N777=), RET(NM_020975.6):c.2331C>T (p.N777=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43118419C>T" "" "likely benign" "" "0000297653" "0" "10" "10" "43615094" "43615094" "subst" "0.0453653" "02325" "RET_000247" "g.43615094C>T" "" "" "" "RET(NM_020630.4):c.2508C>T (p.(Ser836=)), RET(NM_020975.4):c.2508C>T (p.S836=), RET(NM_020975.6):c.2508C>T (p.S836=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43119646C>T" "" "benign" "" "0000297654" "0" "10" "10" "43615633" "43615633" "subst" "0.212036" "02325" "RET_000248" "g.43615633C>G" "" "" "" "RET(NM_020975.4):c.2712C>G (p.S904=), RET(NM_020975.6):c.2712C>G (p.S904=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43120185C>G" "" "benign" "" "0000297655" "0" "10" "10" "43620335" "43620335" "subst" "0.0192692" "02325" "RET_000250" "g.43620335C>T" "" "" "" "RET(NM_020630.4):c.2944C>T (p.(Arg982Cys)), RET(NM_020975.4):c.2944C>T (p.R982C), RET(NM_020975.6):c.2944C>T (p.R982C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43124887C>T" "" "benign" "" "0000297656" "0" "10" "10" "43596179" "43596179" "subst" "0.258266" "02325" "RET_000228" "g.43596179G>A" "" "" "" "RET(NM_020975.4):c.337+9G>A, RET(NM_020975.6):c.337+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43100731G>A" "" "benign" "" "0000297657" "0" "10" "10" "43597827" "43597827" "subst" "0.0073879" "02325" "RET_000229" "g.43597827C>A" "" "" "" "RET(NM_020630.4):c.375C>A (p.(Val125=)), RET(NM_020975.6):c.375C>A (p.V125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43102379C>A" "" "benign" "" "0000299305" "0" "10" "10" "43606650" "43606650" "subst" "0.00821105" "02329" "RET_000233" "g.43606650C>T" "" "" "" "RET(NM_020630.4):c.1264-5C>T (p.?), RET(NM_020975.4):c.1264-5C>T, RET(NM_020975.6):c.1264-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43111202C>T" "" "benign" "" "0000299306" "0" "10" "10" "43606856" "43606856" "subst" "0.00215943" "02329" "RET_000235" "g.43606856G>A" "" "" "" "RET(NM_020975.4):c.1465G>A (p.D489N), RET(NM_020975.6):c.1465G>A (p.D489N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43111408G>A" "" "benign" "" "0000299307" "0" "10" "10" "43595999" "43595999" "subst" "0.00275005" "02329" "RET_000226" "g.43595999C>A" "" "" "" "RET(NM_020630.4):c.166C>A (p.(Leu56Met)), RET(NM_020975.6):c.166C>A (p.L56M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43100551C>A" "" "benign" "" "0000299308" "0" "30" "10" "43596033" "43596033" "subst" "0.00102442" "02329" "RET_000227" "g.43596033G>A" "" "" "" "RET(NM_020975.6):c.200G>A (p.R67H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43100585G>A" "" "likely benign" "" "0000299309" "0" "50" "10" "43610129" "43610129" "subst" "0.000118363" "02329" "RET_000115" "g.43610129G>A" "" "" "" "RET(NM_020975.6):c.2081G>A (p.R694Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43114681G>A" "" "VUS" "" "0000299310" "0" "10" "10" "43620335" "43620335" "subst" "0.0192692" "02329" "RET_000250" "g.43620335C>T" "" "" "" "RET(NM_020630.4):c.2944C>T (p.(Arg982Cys)), RET(NM_020975.4):c.2944C>T (p.R982C), RET(NM_020975.6):c.2944C>T (p.R982C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43124887C>T" "" "benign" "" "0000299311" "0" "10" "10" "43597827" "43597827" "subst" "0.0073879" "02329" "RET_000229" "g.43597827C>A" "" "" "" "RET(NM_020630.4):c.375C>A (p.(Val125=)), RET(NM_020975.6):c.375C>A (p.V125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43102379C>A" "" "benign" "" "0000299312" "0" "30" "10" "43572762" "43572764" "del" "0" "02329" "RET_000223" "g.43572762_43572764del" "" "" "" "RET(NM_020975.6):c.56_58delTGC (p.L19del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43077314_43077316del" "" "likely benign" "" "0000299313" "0" "30" "10" "43598087" "43598087" "subst" "1.63016E-5" "02329" "RET_000230" "g.43598087G>A" "" "" "" "RET(NM_020975.6):c.625+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43102639G>A" "" "likely benign" "" "0000301424" "0" "10" "10" "43606650" "43606650" "subst" "0.00821105" "02326" "RET_000233" "g.43606650C>T" "" "" "" "RET(NM_020630.4):c.1264-5C>T (p.?), RET(NM_020975.4):c.1264-5C>T, RET(NM_020975.6):c.1264-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43111202C>T" "" "benign" "" "0000301425" "0" "90" "10" "43609076" "43609076" "subst" "0" "02326" "RET_000006" "g.43609076G>A" "" "" "" "RET(NM_020975.4):c.1832G>A (p.C611Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43113628G>A" "" "pathogenic" "" "0000301426" "0" "90" "10" "43609096" "43609096" "subst" "4.09293E-6" "02326" "RET_000009" "g.43609096T>A" "" "" "" "RET(NM_020975.4):c.1852T>A (p.C618S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43113648T>A" "" "pathogenic" "" "0000301427" "0" "90" "10" "43609097" "43609097" "subst" "0" "02326" "RET_000012" "g.43609097G>C" "" "" "" "RET(NM_020975.4):c.1853G>C (p.C618S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43113649G>C" "" "pathogenic" "" "0000301428" "0" "90" "10" "43609102" "43609102" "subst" "0" "02326" "RET_000015" "g.43609102T>C" "" "" "" "RET(NM_020975.4):c.1858T>C (p.C620R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43113654T>C" "" "pathogenic" "" "0000301429" "0" "90" "10" "43609103" "43609103" "subst" "0" "02326" "RET_000020" "g.43609103G>T" "" "" "" "RET(NM_020975.4):c.1859G>T (p.C620F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43113655G>T" "" "pathogenic" "" "0000301430" "0" "90" "10" "43609948" "43609948" "subst" "1.23759E-5" "02326" "RET_000111" "g.43609948T>C" "" "" "" "RET(NM_020975.4):c.1900T>C (p.C634R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43114500T>C" "" "pathogenic" "" "0000301431" "0" "90" "10" "43609948" "43609948" "subst" "0" "02326" "RET_000239" "g.43609948T>G" "" "" "" "RET(NM_020975.4):c.1900T>G (p.C634G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43114500T>G" "" "pathogenic" "" "0000301432" "0" "90" "10" "43609949" "43609949" "subst" "4.1247E-6" "02326" "RET_000114" "g.43609949G>A" "" "" "" "RET(NM_020975.4):c.1901G>A (p.C634Y), RET(NM_020975.6):c.1901G>A (p.C634Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43114501G>A" "" "pathogenic" "" "0000301433" "0" "90" "10" "43609949" "43609949" "subst" "0" "02326" "RET_000240" "g.43609949G>C" "" "" "" "RET(NM_020975.4):c.1901G>C (p.C634S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43114501G>C" "" "pathogenic" "" "0000301434" "0" "30" "10" "43609994" "43609994" "subst" "0.000323174" "02326" "RET_000241" "g.43609994C>T" "" "" "" "RET(NM_020975.4):c.1946C>T (p.S649L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43114546C>T" "" "likely benign" "" "0000301435" "0" "30" "10" "43613867" "43613867" "subst" "3.24939E-5" "02326" "RET_000245" "g.43613867C>T" "" "" "" "RET(NM_020975.4):c.2331C>T (p.N777=), RET(NM_020975.6):c.2331C>T (p.N777=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43118419C>T" "" "likely benign" "" "0000301436" "0" "90" "10" "43613906" "43613906" "subst" "2.03174E-5" "02326" "RET_000104" "g.43613906G>T" "" "" "" "RET(NM_020975.4):c.2370G>T (p.L790F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43118458G>T" "" "pathogenic" "" "0000301437" "0" "90" "10" "43614996" "43614996" "subst" "0.000126701" "02326" "RET_000106" "g.43614996G>A" "" "" "" "RET(NM_020975.4):c.2410G>A (p.V804M), RET(NM_020975.6):c.2410G>A (p.V804M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43119548G>A" "" "pathogenic" "" "0000301438" "0" "90" "10" "43614996" "43614996" "subst" "0" "02326" "RET_000246" "g.43614996G>C" "" "" "" "RET(NM_020975.4):c.2410G>C (p.V804L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43119548G>C" "" "pathogenic" "" "0000301439" "0" "10" "10" "43615094" "43615094" "subst" "0.0453653" "02326" "RET_000247" "g.43615094C>T" "" "" "" "RET(NM_020630.4):c.2508C>T (p.(Ser836=)), RET(NM_020975.4):c.2508C>T (p.S836=), RET(NM_020975.6):c.2508C>T (p.S836=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43119646C>T" "" "benign" "" "0000301440" "0" "10" "10" "43615633" "43615633" "subst" "0.212036" "02326" "RET_000248" "g.43615633C>G" "" "" "" "RET(NM_020975.4):c.2712C>G (p.S904=), RET(NM_020975.6):c.2712C>G (p.S904=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43120185C>G" "" "benign" "" "0000301441" "0" "50" "10" "43617401" "43617401" "subst" "0" "02326" "RET_000249" "g.43617401T>C" "" "" "" "RET(NM_020975.4):c.2738T>C (p.I913T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43121953T>C" "" "VUS" "" "0000301442" "0" "90" "10" "43617416" "43617416" "subst" "4.06062E-6" "02326" "RET_000102" "g.43617416T>C" "" "" "" "RET(NM_020975.4):c.2753T>C (p.M918T), RET(NM_020975.6):c.2753T>C (p.M918T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43121968T>C" "" "pathogenic" "" "0000301443" "0" "10" "10" "43620335" "43620335" "subst" "0.0192692" "02326" "RET_000250" "g.43620335C>T" "" "" "" "RET(NM_020630.4):c.2944C>T (p.(Arg982Cys)), RET(NM_020975.4):c.2944C>T (p.R982C), RET(NM_020975.6):c.2944C>T (p.R982C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43124887C>T" "" "benign" "" "0000301444" "0" "10" "10" "43600559" "43600559" "subst" "0.0002522" "02326" "RET_000231" "g.43600559T>C" "" "" "" "RET(NM_020975.4):c.785T>C (p.V262A), RET(NM_020975.6):c.785T>C (p.(Val262Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43105111T>C" "" "benign" "" "0000307033" "0" "30" "10" "43609941" "43609941" "subst" "0.000123984" "01943" "RET_000238" "g.43609941C>T" "" "" "" "RET(NM_020975.4):c.1893C>T (p.D631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43114493C>T" "" "likely benign" "" "0000307034" "0" "50" "10" "43622042" "43622042" "subst" "2.43675E-5" "01943" "RET_000251" "g.43622042C>T" "" "" "" "RET(NM_020975.4):c.3059C>T (p.A1020V, p.(Ala1020Val)), RET(NM_020975.6):c.3059C>T (p.A1020V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43126594C>T" "" "VUS" "" "0000307035" "0" "10" "10" "43600607" "43600607" "subst" "0.00211343" "01943" "RET_000232" "g.43600607C>A" "" "" "" "RET(NM_020975.4):c.833C>A (p.T278N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43105159C>A" "" "benign" "" "0000338096" "0" "30" "10" "43613947" "43613947" "subst" "5.8572E-5" "02327" "RET_000255" "g.43613947T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43118499T>C" "" "likely benign" "" "0000338097" "0" "10" "10" "43615505" "43615505" "subst" "0.204117" "02327" "RET_000256" "g.43615505G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43120057G>A" "" "benign" "" "0000340077" "0" "10" "10" "43597827" "43597827" "subst" "0.0073879" "02327" "RET_000229" "g.43597827C>A" "" "" "" "RET(NM_020630.4):c.375C>A (p.(Val125=)), RET(NM_020975.6):c.375C>A (p.V125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43102379C>A" "" "benign" "" "0000340079" "0" "10" "10" "43606687" "43606687" "subst" "0.695594" "02327" "RET_000234" "g.43606687A>G" "" "" "" "RET(NM_020975.4):c.1296A>G (p.A432=), RET(NM_020975.6):c.1296A>G (p.A432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43111239A>G" "" "benign" "" "0000340082" "0" "10" "10" "43615094" "43615094" "subst" "0.0453653" "02327" "RET_000247" "g.43615094C>T" "" "" "" "RET(NM_020630.4):c.2508C>T (p.(Ser836=)), RET(NM_020975.4):c.2508C>T (p.S836=), RET(NM_020975.6):c.2508C>T (p.S836=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43119646C>T" "" "benign" "" "0000340083" "0" "10" "10" "43615633" "43615633" "subst" "0.212036" "02327" "RET_000248" "g.43615633C>G" "" "" "" "RET(NM_020975.4):c.2712C>G (p.S904=), RET(NM_020975.6):c.2712C>G (p.S904=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43120185C>G" "" "benign" "" "0000344431" "0" "90" "10" "43609076" "43609076" "subst" "0" "02327" "RET_000006" "g.43609076G>A" "" "" "" "RET(NM_020975.4):c.1832G>A (p.C611Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43113628G>A" "" "pathogenic" "" "0000344436" "0" "90" "10" "43609948" "43609948" "subst" "1.23759E-5" "02327" "RET_000111" "g.43609948T>C" "" "" "" "RET(NM_020975.4):c.1900T>C (p.C634R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43114500T>C" "" "pathogenic" "" "0000344437" "0" "90" "10" "43609949" "43609949" "subst" "4.1247E-6" "02327" "RET_000114" "g.43609949G>A" "" "" "" "RET(NM_020975.4):c.1901G>A (p.C634Y), RET(NM_020975.6):c.1901G>A (p.C634Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43114501G>A" "" "pathogenic" "" "0000345010" "0" "50" "10" "43617454" "43617454" "subst" "4.06058E-6" "02327" "RET_000258" "g.43617454C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43122006C>A" "" "VUS" "" "0000346222" "0" "10" "10" "43610119" "43610119" "subst" "0.210975" "02327" "RET_000242" "g.43610119G>A" "" "" "" "RET(NM_020975.4):c.2071G>A (p.G691S), RET(NM_020975.6):c.2071G>A (p.G691S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43114671G>A" "" "benign" "" "0000346256" "0" "50" "10" "43612138" "43612138" "subst" "4.06058E-6" "02327" "RET_000254" "g.43612138G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43116690G>A" "" "VUS" "" "0000347232" "0" "10" "10" "43595999" "43595999" "subst" "0.00275005" "02327" "RET_000226" "g.43595999C>A" "" "" "" "RET(NM_020630.4):c.166C>A (p.(Leu56Met)), RET(NM_020975.6):c.166C>A (p.L56M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43100551C>A" "" "benign" "" "0000347331" "0" "50" "10" "43615562" "43615562" "subst" "4.06987E-6" "02327" "RET_000257" "g.43615562C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43120114C>G" "" "VUS" "" "0000349407" "0" "50" "10" "43600607" "43600607" "subst" "0.00211343" "02327" "RET_000232" "g.43600607C>A" "" "" "" "RET(NM_020975.4):c.833C>A (p.T278N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43105159C>A" "" "VUS" "" "0000350196" "0" "30" "10" "43613908" "43613908" "subst" "0.00209292" "02327" "RET_000105" "g.43613908A>T" "" "" "" "RET(NM_020975.4):c.2372A>T (p.Y791F), RET(NM_020975.6):c.2372A>T (p.Y791F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43118460A>T" "" "likely benign" "" "0000350666" "0" "90" "10" "43614996" "43614996" "subst" "0.000126701" "02327" "RET_000106" "g.43614996G>A" "" "" "" "RET(NM_020975.4):c.2410G>A (p.V804M), RET(NM_020975.6):c.2410G>A (p.V804M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43119548G>A" "" "pathogenic" "" "0000350753" "0" "70" "10" "43620313" "43620327" "del" "0" "02327" "RET_000259" "g.43620313_43620327del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43124865_43124879del" "" "likely pathogenic" "" "0000351196" "0" "10" "10" "43596179" "43596179" "subst" "0.258266" "02327" "RET_000228" "g.43596179G>A" "" "" "" "RET(NM_020975.4):c.337+9G>A, RET(NM_020975.6):c.337+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43100731G>A" "" "benign" "" "0000439887" "0" "90" "10" "43614996" "43614996" "subst" "0.000126701" "01164" "RET_000106" "g.43614996G>A" "" "" "" "" "ACMG grading: PM1,PP5,PM2,PS3,PP1,PM5; reported in Fink 1996. Int J Cancer 69: 312; Febrero 2015. J Endocrinol Invest 38: 1233; George Priya Doss 2014. Mol Biosyst 10: 421" "Germline" "" "rs79658334" "0" "" "" "g.43119548G>A" "" "pathogenic" "ACMG" "0000442482" "0" "50" "10" "43607573" "43607573" "subst" "0" "01164" "RET_000260" "g.43607573C>G" "" "" "" "" "" "Germline" "" "rs764616982" "0" "" "" "g.43112125C>G" "" "VUS" "ACMG" "0000455672" "11" "55" "10" "43572670" "43572670" "subst" "3.4575E-5" "03007" "RET_000023" "g.43572670G>C" "" "Human Mutation humu-2012-0537.R1 (in press)" "" "" "" "Germline" "" "" "0" "" "" "g.43077222G>C" "" "VUS" "" "0000455673" "0" "55" "10" "43601894" "43601894" "subst" "0.000123071" "03007" "RET_000021" "g.43601894G>A" "" "Human Mutation humu-2012-0537.R1 (in press)" "" "" "" "Unknown" "" "" "0" "" "" "g.43106446G>A" "" "VUS" "" "0000455674" "0" "55" "10" "43602028" "43602028" "subst" "0.000141431" "03007" "RET_000024" "g.43602028G>A" "" "Human Mutation humu-2012-0537.R1 (in press)" "" "" "" "Unknown" "" "" "0" "" "" "g.43106580G>A" "" "VUS" "" "0000455675" "0" "55" "10" "43609069" "43609069" "subst" "0" "00000" "RET_000001" "g.43609069T>C" "" "{PMID:Frank-Raue et al 2011:20979234}" "" "" "" "Unknown" "" "" "0" "" "" "g.43113621T>C" "" "VUS" "" "0000455676" "0" "55" "10" "43609069" "43609069" "subst" "0" "00000" "RET_000002" "g.43609069T>G" "" "{PMID:Frank-Raue et al 2011:20979234}" "" "" "" "Unknown" "" "" "0" "" "" "g.43113621T>G" "" "VUS" "" "0000455677" "0" "55" "10" "43609070" "43609070" "subst" "0" "00000" "RET_000003" "g.43609070G>A" "" "{PMID:Frank-Raue et al 2011:20979234}" "" "" "" "Unknown" "" "" "0" "" "" "g.43113622G>A" "" "VUS" "" "0000455678" "0" "55" "10" "43609070" "43609070" "subst" "0" "00000" "RET_000004" "g.43609070G>C" "" "{PMID:Frank-Raue et al 2011:20979234}" "" "" "" "Unknown" "" "" "0" "" "" "g.43113622G>C" "" "VUS" "" "0000455679" "0" "55" "10" "43609070" "43609070" "subst" "0" "00000" "RET_000005" "g.43609070G>T" "" "{PMID:Frank-Raue et al 2011:20979234}" "" "" "" "Unknown" "" "" "0" "" "" "g.43113622G>T" "" "VUS" "" "0000455680" "0" "55" "10" "43609076" "43609076" "subst" "0" "00000" "RET_000006" "g.43609076G>A" "" "{PMID:Frank-Raue et al 2011:20979234}" "" "" "" "Unknown" "" "" "0" "" "" "g.43113628G>A" "" "VUS" "" "0000455681" "0" "55" "10" "43609076" "43609076" "subst" "0" "00000" "RET_000008" "g.43609076G>T" "" "{PMID:Frank-Raue et al 2011:20979234}" "" "" "" "Unknown" "" "" "0" "" "" "g.43113628G>T" "" "VUS" "" "0000455682" "0" "55" "10" "43609076" "43609076" "subst" "0" "00000" "RET_000008" "g.43609076G>T" "" "{PMID:Frank-Raue et al 2011:20979234}" "" "" "" "Unknown" "" "" "0" "" "" "g.43113628G>T" "" "VUS" "" "0000455683" "0" "55" "10" "43609077" "43609077" "subst" "0" "00000" "RET_000007" "g.43609077C>G" "" "{PMID:Frank-Raue et al 2011:20979234}" "" "" "" "Unknown" "" "" "0" "" "" "g.43113629C>G" "" "VUS" "" "0000455684" "0" "55" "10" "43609096" "43609096" "subst" "4.09293E-6" "00000" "RET_000009" "g.43609096T>A" "" "{PMID:Frank-Raue et al 2011:20979234}" "" "" "" "Unknown" "" "" "0" "" "" "g.43113648T>A" "" "VUS" "" "0000455685" "0" "55" "10" "43609096" "43609096" "subst" "4.09293E-6" "00000" "RET_000010" "g.43609096T>C" "" "{PMID:Frank-Raue et al 2011:20979234}" "" "" "" "Unknown" "" "" "0" "" "" "g.43113648T>C" "" "VUS" "" "0000455686" "0" "55" "10" "43609096" "43609096" "subst" "0" "00000" "RET_000011" "g.43609096T>G" "" "{PMID:Frank-Raue et al 2011:20979234}" "" "" "" "Unknown" "" "" "0" "" "" "g.43113648T>G" "" "VUS" "" "0000455687" "0" "55" "10" "43609097" "43609097" "subst" "0" "00000" "RET_000013" "g.43609097G>A" "" "{PMID:Frank-Raue et al 2011:20979234}" "" "" "" "Unknown" "" "" "0" "" "" "g.43113649G>A" "" "VUS" "" "0000455688" "0" "55" "10" "43609097" "43609097" "subst" "0" "00000" "RET_000012" "g.43609097G>C" "" "{PMID:Frank-Raue et al 2011:20979234}" "" "" "" "Unknown" "" "" "0" "" "" "g.43113649G>C" "" "VUS" "" "0000455689" "0" "55" "10" "43609097" "43609097" "subst" "0" "00000" "RET_000014" "g.43609097G>T" "" "{PMID:Frank-Raue et al 2011:20979234}" "" "" "" "Unknown" "" "" "0" "" "" "g.43113649G>T" "" "VUS" "" "0000455690" "0" "55" "10" "43609102" "43609102" "subst" "0" "00000" "RET_000015" "g.43609102T>C" "" "{PMID:Frank-Raue et al 2011:20979234}" "" "" "" "Unknown" "" "" "0" "" "" "g.43113654T>C" "" "VUS" "" "0000455691" "0" "55" "10" "43609102" "43609102" "subst" "0" "00000" "RET_000016" "g.43609102T>G" "" "{PMID:Frank-Raue et al 2011:20979234}" "" "" "" "Unknown" "" "" "0" "" "" "g.43113654T>G" "" "VUS" "" "0000455692" "0" "55" "10" "43609103" "43609103" "subst" "0" "00000" "RET_000017" "g.43609103G>A" "" "{PMID:Frank-Raue et al 2011:20979234}" "" "" "" "Unknown" "" "" "0" "" "" "g.43113655G>A" "" "VUS" "" "0000455693" "0" "55" "10" "43609103" "43609103" "subst" "0" "00000" "RET_000018" "g.43609103G>C" "" "{PMID:Frank-Raue et al 2011:20979234}" "" "" "" "Unknown" "" "" "0" "" "" "g.43113655G>C" "" "VUS" "" "0000455694" "0" "55" "10" "43609103" "43609103" "subst" "0" "00000" "RET_000020" "g.43609103G>T" "" "{PMID:Frank-Raue et al 2011:20979234}" "" "" "" "Unknown" "" "" "0" "" "" "g.43113655G>T" "" "VUS" "" "0000455695" "0" "55" "10" "43609104" "43609104" "subst" "0" "00000" "RET_000019" "g.43609104C>G" "" "{PMID:Frank-Raue et al 2011:20979234}" "" "" "" "Unknown" "" "" "0" "" "" "g.43113656C>G" "" "VUS" "" "0000455696" "21" "55" "10" "43613884" "43613884" "subst" "4.06177E-6" "03007" "RET_000022" "g.43613884A>G" "" "Human Mutation humu-2012-0537.R1 (in press)" "" "" "" "Germline" "" "" "0" "" "" "g.43118436A>G" "" "VUS" "" "0000455697" "0" "55" "10" "43622101" "43622104" "del" "0" "03007" "RET_000025" "g.43622101_43622104del" "" "Human Mutation humu-2012-0537.R1 (in press)" "" "" "" "De novo" "" "" "0" "" "" "g.43126653_43126656del" "" "VUS" "" "0000539877" "0" "30" "10" "43595968" "43595968" "subst" "0.730852" "01943" "RET_000224" "g.43595968A>G" "" "" "" "RET(NM_020975.4):c.135A>G (p.A45=), RET(NM_020975.6):c.135A>G (p.A45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43100520A>G" "" "likely benign" "" "0000539878" "0" "10" "10" "43596179" "43596179" "subst" "0.258266" "01943" "RET_000228" "g.43596179G>A" "" "" "" "RET(NM_020975.4):c.337+9G>A, RET(NM_020975.6):c.337+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43100731G>A" "" "benign" "" "0000539879" "0" "50" "10" "43597900" "43597902" "del" "0" "02325" "RET_000261" "g.43597900_43597902del" "" "" "" "RET(NM_020975.6):c.448_450delTTC (p.F150del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43102452_43102454del" "" "VUS" "" "0000539880" "0" "70" "10" "43601945" "43601945" "subst" "0" "02325" "RET_000262" "g.43601945G>A" "" "" "" "RET(NM_020975.6):c.989G>A (p.R330Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43106497G>A" "" "likely pathogenic" "" "0000539881" "0" "10" "10" "43606650" "43606650" "subst" "0.00821105" "01804" "RET_000233" "g.43606650C>T" "" "" "" "RET(NM_020630.4):c.1264-5C>T (p.?), RET(NM_020975.4):c.1264-5C>T, RET(NM_020975.6):c.1264-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43111202C>T" "" "benign" "" "0000539882" "0" "50" "10" "43606657" "43606657" "subst" "0" "02325" "RET_000263" "g.43606657C>G" "" "" "" "RET(NM_020975.6):c.1266C>G (p.I422M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43111209C>G" "" "VUS" "" "0000539883" "0" "10" "10" "43606687" "43606687" "subst" "0.695594" "01943" "RET_000234" "g.43606687A>G" "" "" "" "RET(NM_020975.4):c.1296A>G (p.A432=), RET(NM_020975.6):c.1296A>G (p.A432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43111239A>G" "" "benign" "" "0000539884" "0" "50" "10" "43609058" "43609058" "subst" "0" "02325" "RET_000264" "g.43609058G>T" "" "" "" "RET(NM_020975.6):c.1814G>T (p.G605V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43113610G>T" "" "VUS" "" "0000539885" "0" "90" "10" "43609097" "43609097" "subst" "0" "02327" "RET_000012" "g.43609097G>C" "" "" "" "RET(NM_020975.4):c.1853G>C (p.C618S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43113649G>C" "" "pathogenic" "" "0000539886" "0" "90" "10" "43609103" "43609103" "subst" "0" "02327" "RET_000020" "g.43609103G>T" "" "" "" "RET(NM_020975.4):c.1859G>T (p.C620F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43113655G>T" "" "pathogenic" "" "0000539887" "0" "90" "10" "43609104" "43609104" "subst" "0" "02325" "RET_000265" "g.43609104C>A" "" "" "" "RET(NM_020975.6):c.1860C>A (p.C620*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43113656C>A" "" "pathogenic" "" "0000539888" "0" "90" "10" "43609950" "43609950" "subst" "4.12439E-6" "02326" "RET_000266" "g.43609950C>G" "" "" "" "RET(NM_020975.4):c.1902C>G (p.C634W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43114502C>G" "" "pathogenic" "" "0000539889" "0" "50" "10" "43609987" "43609987" "subst" "0" "02326" "RET_000267" "g.43609987A>G" "" "" "" "RET(NM_020975.4):c.1939A>G (p.I647V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43114539A>G" "" "VUS" "" "0000539890" "0" "30" "10" "43609990" "43609990" "subst" "0.000106435" "02325" "RET_000268" "g.43609990G>A" "" "" "" "RET(NM_020975.6):c.1942G>A (p.V648I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43114542G>A" "" "likely benign" "" "0000539891" "0" "30" "10" "43610100" "43610100" "subst" "0.000256707" "02327" "RET_000269" "g.43610100G>A" "" "" "" "RET(NM_020975.4):c.2052G>A (p.P684=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43114652G>A" "" "likely benign" "" "0000539892" "0" "10" "10" "43610119" "43610119" "subst" "0.210975" "01943" "RET_000242" "g.43610119G>A" "" "" "" "RET(NM_020975.4):c.2071G>A (p.G691S), RET(NM_020975.6):c.2071G>A (p.G691S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43114671G>A" "" "benign" "" "0000539893" "0" "90" "10" "43613840" "43613840" "subst" "0" "02326" "RET_000270" "g.43613840G>C" "" "" "" "RET(NM_020975.4):c.2304G>C (p.E768D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43118392G>C" "" "pathogenic" "" "0000539894" "0" "30" "10" "43613843" "43613843" "subst" "0.739176" "01943" "RET_000243" "g.43613843G>T" "" "" "" "RET(NM_020975.4):c.2307G>T (p.L769=), RET(NM_020975.6):c.2307G>T (p.L769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43118395G>T" "" "likely benign" "" "0000539895" "0" "30" "10" "43613867" "43613867" "subst" "3.24939E-5" "02327" "RET_000245" "g.43613867C>T" "" "" "" "RET(NM_020975.4):c.2331C>T (p.N777=), RET(NM_020975.6):c.2331C>T (p.N777=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43118419C>T" "" "likely benign" "" "0000539896" "0" "10" "10" "43615094" "43615094" "subst" "0.0453653" "01943" "RET_000247" "g.43615094C>T" "" "" "" "RET(NM_020630.4):c.2508C>T (p.(Ser836=)), RET(NM_020975.4):c.2508C>T (p.S836=), RET(NM_020975.6):c.2508C>T (p.S836=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43119646C>T" "" "benign" "" "0000539897" "0" "10" "10" "43615633" "43615633" "subst" "0.212036" "01943" "RET_000248" "g.43615633C>G" "" "" "" "RET(NM_020975.4):c.2712C>G (p.S904=), RET(NM_020975.6):c.2712C>G (p.S904=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43120185C>G" "" "benign" "" "0000539898" "0" "10" "10" "43620335" "43620335" "subst" "0.0192692" "02327" "RET_000250" "g.43620335C>T" "" "" "" "RET(NM_020630.4):c.2944C>T (p.(Arg982Cys)), RET(NM_020975.4):c.2944C>T (p.R982C), RET(NM_020975.6):c.2944C>T (p.R982C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43124887C>T" "" "benign" "" "0000539899" "0" "50" "10" "43620373" "43620373" "subst" "4.46664E-5" "01943" "RET_000271" "g.43620373A>C" "" "" "" "RET(NM_020975.4):c.2982A>C (p.K994N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43124925A>C" "" "VUS" "" "0000539900" "0" "50" "10" "43622077" "43622077" "subst" "2.43643E-5" "02325" "RET_000272" "g.43622077G>A" "" "" "" "RET(NM_020975.6):c.3094G>A (p.G1032S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43126629G>A" "" "VUS" "" "0000612460" "0" "50" "10" "43597991" "43597991" "subst" "0.000129988" "01943" "RET_000273" "g.43597991G>A" "" "" "" "RET(NM_020975.4):c.539G>A (p.R180Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43102543G>A" "" "VUS" "" "0000612461" "0" "30" "10" "43601986" "43601986" "subst" "4.09383E-6" "01943" "RET_000274" "g.43601986G>A" "" "" "" "RET(NM_020975.4):c.1030G>A (p.G344S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43106538G>A" "" "likely benign" "" "0000612462" "0" "50" "10" "43608318" "43608320" "del" "0" "01943" "RET_000276" "g.43608318_43608320del" "" "" "" "RET(NM_020975.4):c.1666_1668delTCC (p.S556del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43112870_43112872del" "" "VUS" "" "0000612463" "0" "50" "10" "43608379" "43608379" "subst" "0" "02325" "RET_000277" "g.43608379A>C" "" "" "" "RET(NM_020975.6):c.1727A>C (p.Q576P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43112931A>C" "" "VUS" "" "0000612464" "0" "30" "10" "43609989" "43609989" "subst" "9.82688E-5" "01943" "RET_000278" "g.43609989C>T" "" "" "" "RET(NM_020975.4):c.1941C>T (p.I647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43114541C>T" "" "likely benign" "" "0000612465" "0" "50" "10" "43610053" "43610053" "subst" "2.44194E-5" "02327" "RET_000279" "g.43610053A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43114605A>G" "" "VUS" "" "0000612467" "0" "50" "10" "43615142" "43615142" "subst" "0.000170915" "02325" "RET_000281" "g.43615142C>G" "" "" "" "RET(NM_020975.6):c.2556C>G (p.(Ile852Met), p.I852M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43119694C>G" "" "VUS" "" "0000622385" "0" "30" "10" "43607620" "43607620" "subst" "0" "02325" "RET_000275" "g.43607620C>T" "" "" "" "RET(NM_020975.6):c.1596C>T (p.G532=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43112172C>T" "" "likely benign" "" "0000622386" "0" "70" "10" "43617466" "43617466" "dup" "0" "02325" "RET_000282" "g.43617466dup" "" "" "" "RET(NM_020975.6):c.2801+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43122018dup" "" "likely pathogenic" "" "0000647896" "1" "10" "10" "43597793" "43597793" "subst" "0.000766896" "03575" "RET_000283" "g.43597793G>A" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs76397662}" "Germline" "" "rs76397662" "0" "" "" "g.43102345G>A" "" "benign" "" "0000647897" "1" "50" "10" "43601830" "43601830" "subst" "0.000566645" "03575" "RET_000284" "g.43601830G>A" "7/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; {DB:CLININrs34682185}" "Germline" "" "rs34682185" "0" "" "" "g.43106382G>A" "" "VUS" "" "0000647898" "1" "70" "10" "43610046" "43610046" "subst" "2.03573E-5" "03575" "RET_000285" "g.43610046G>T" "2/2777 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs146646971}" "Germline" "" "rs146646971" "0" "" "" "g.43114598G>T" "" "likely pathogenic" "" "0000647899" "1" "50" "10" "43615142" "43615142" "subst" "0.000170915" "03575" "RET_000281" "g.43615142C>G" "1/2788 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs377767426}" "Germline" "" "rs377767426" "0" "" "" "g.43119694C>G" "" "VUS" "" "0000647900" "1" "50" "10" "43615532" "43615532" "subst" "8.9662E-5" "03575" "RET_000286" "g.43615532G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs145170911}" "Germline" "" "rs145170911" "0" "" "" "g.43120084G>A" "" "VUS" "" "0000647901" "1" "50" "10" "43620335" "43620335" "subst" "0.0192692" "03575" "RET_000250" "g.43620335C>T" "182/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 182 heterozygous; {DB:CLININrs17158558}" "Germline" "" "rs17158558" "0" "" "" "g.43124887C>T" "" "VUS" "" "0000653473" "0" "70" "10" "43610046" "43610046" "subst" "2.03573E-5" "01164" "RET_000285" "g.43610046G>T" "" "" "" "" "ACMG: PS3,PM2,PP3; BC at age 39y, maternal aunt laryngeal carcinoma; Muzza et al. 2010. Eur J Endocrinol 162: 771; Xu et al. 2016. Thyroid 26: 1744; Jaber et al. 2018. J Clin Endocrinol Metab 103: 1269; Yehia et al. 2018. PLoS Genet 14: e1007352" "Germline" "" "rs146646971" "0" "" "" "g.43114598G>T" "" "likely pathogenic" "ACMG" "0000656486" "0" "30" "10" "43608351" "43608351" "subst" "0.000170572" "01943" "RET_000287" "g.43608351G>A" "" "" "" "RET(NM_020975.4):c.1699G>A (p.D567N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43112903G>A" "" "likely benign" "" "0000669059" "3" "50" "10" "43620335" "43620335" "subst" "0.0192692" "03575" "RET_000250" "g.43620335C>T" "6/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 6 homozygous; {DB:CLININrs17158558}" "Germline" "" "rs17158558" "0" "" "" "g.43124887C>T" "" "VUS" "" "0000675117" "3" "90" "10" "43608363" "43608363" "subst" "1.21827E-5" "03750" "RET_000288" "g.43608363G>A" "" "" "" "" "" "Germline" "yes" "rs750958377" "0" "" "" "g.43112915G>A" "" "pathogenic (recessive)" "ACMG" "0000678844" "0" "30" "10" "43622095" "43622095" "subst" "0.000605032" "02325" "RET_000252" "g.43622095A>G" "" "" "" "RET(NM_020975.4):c.3112A>G (p.T1038A), RET(NM_020975.6):c.3112A>G (p.(Thr1038Ala), p.T1038A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684777" "0" "30" "10" "43600607" "43600607" "subst" "0.00211343" "00004" "RET_000232" "g.43600607C>A" "frequency 0.014" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.43105159C>A" "" "likely benign" "" "0000690719" "0" "50" "10" "43606905" "43606905" "subst" "0" "02325" "RET_000289" "g.43606905A>T" "" "" "" "RET(NM_020975.6):c.1514A>T (p.E505V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000699854" "0" "70" "10" "43608351" "43608351" "subst" "0.000170572" "00006" "RET_000287" "g.43608351G>A" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "g.43112903G>A" "" "VUS" "" "0000699886" "0" "70" "10" "43610111" "43610111" "subst" "0" "00006" "RET_000292" "g.43610111C>T" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "g.43114663C>T" "" "VUS" "" "0000699891" "0" "70" "10" "43609951" "43609951" "subst" "0" "00006" "RET_000291" "g.43609951C>T" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "g.43114503C>T" "" "VUS" "" "0000699939" "0" "70" "10" "43610129" "43610129" "subst" "0.000118363" "00006" "RET_000115" "g.43610129G>A" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "g.43114681G>A" "" "VUS" "" "0000703842" "0" "30" "10" "43600496" "43600496" "subst" "0" "03779" "RET_000293" "g.43600496C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs1178140696" "0" "" "" "" "" "likely benign" "" "0000722812" "0" "50" "10" "43601863" "43601863" "subst" "0" "02325" "RET_000294" "g.43601863G>A" "" "" "" "RET(NM_020975.6):c.907G>A (p.V303M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722813" "0" "70" "10" "43601998" "43601998" "subst" "0" "02325" "RET_000295" "g.43601998C>T" "" "" "" "RET(NM_020975.6):c.1042C>T (p.R348W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722814" "0" "50" "10" "43608408" "43608408" "subst" "8.12394E-6" "02325" "RET_000296" "g.43608408C>T" "" "" "" "RET(NM_020975.6):c.1756C>T (p.L586F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722815" "0" "50" "10" "43608411" "43608411" "subst" "8.12466E-6" "02325" "RET_000297" "g.43608411C>T" "" "" "" "RET(NM_020975.6):c.1759C>T (p.R587W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722816" "0" "50" "10" "43613834" "43613834" "subst" "6.09548E-5" "02325" "RET_000298" "g.43613834G>A" "" "" "" "RET(NM_020975.6):c.2298G>A (p.P766=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722817" "0" "90" "10" "43622165" "43622165" "subst" "4.06597E-6" "02325" "RET_000299" "g.43622165T>C" "" "" "" "RET(NM_020975.6):c.3182T>C (p.L1061P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000788001" "0" "90" "10" "43609076" "43609076" "subst" "0" "01164" "RET_000006" "g.43609076G>A" "" "Landsvater et al. 1996. Hum 97: 11; Kaserer et al. 2001. Am J Surg Pathol 25: 1245; Liu et al. 2017. Medicine 96: 5967; Schuurman et al. 2001. Neth J Med 58: 236; Sjursen et al. 2013. Fam Cancer 12: 529; Ito et al. 1997. Cancer Res 57: 2870-2" "" "" "ACMG grading: PS3,PM2,PM5,PP3" "Germline" "" "rs377767397" "0" "" "" "" "" "pathogenic" "ACMG" "0000804414" "0" "50" "10" "43598001" "43598001" "subst" "0" "01943" "RET_000300" "g.43598001C>T" "" "" "" "RET(NM_020975.4):c.549C>T (p.G183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804415" "0" "30" "10" "43598049" "43598049" "subst" "7.31452E-5" "02326" "RET_000301" "g.43598049C>T" "" "" "" "RET(NM_020975.4):c.597C>T (p.N199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804416" "0" "50" "10" "43607621" "43607621" "subst" "0" "02325" "RET_000302" "g.43607621G>A" "" "" "" "RET(NM_020975.6):c.1597G>A (p.G533S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804417" "0" "90" "10" "43608412" "43608412" "subst" "0" "02325" "RET_000303" "g.43608412G>A" "" "" "" "RET(NM_020975.6):c.1759+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804418" "0" "50" "10" "43609043" "43609043" "subst" "2.07859E-5" "02325" "RET_000304" "g.43609043G>A" "" "" "" "RET(NM_020975.6):c.1799G>A (p.R600Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804419" "0" "90" "10" "43609076" "43609076" "subst" "0" "01943" "RET_000006" "g.43609076G>A" "" "" "" "RET(NM_020975.4):c.1832G>A (p.C611Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804421" "0" "30" "10" "43610100" "43610100" "subst" "0.000256707" "01943" "RET_000269" "g.43610100G>A" "" "" "" "RET(NM_020975.4):c.2052G>A (p.P684=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804422" "0" "50" "10" "43615063" "43615063" "subst" "0" "02325" "RET_000306" "g.43615063A>G" "" "" "" "RET(NM_020975.6):c.2477A>G (p.Y826C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804423" "0" "10" "10" "43615094" "43615094" "subst" "0.0453653" "01804" "RET_000247" "g.43615094C>T" "" "" "" "RET(NM_020630.4):c.2508C>T (p.(Ser836=)), RET(NM_020975.4):c.2508C>T (p.S836=), RET(NM_020975.6):c.2508C>T (p.S836=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000830296" "0" "70" "10" "43609939" "43609939" "subst" "4.13555E-6" "00006" "RET_000110" "g.43609939G>T" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.43114491G>T" "" "likely pathogenic (dominant)" "" "0000830297" "0" "70" "10" "43609939" "43609939" "subst" "4.13555E-6" "00006" "RET_000110" "g.43609939G>T" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.43114491G>T" "" "likely pathogenic (dominant)" "" "0000830298" "0" "70" "10" "43609939" "43609939" "subst" "4.13555E-6" "00006" "RET_000110" "g.43609939G>T" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.43114491G>T" "" "likely pathogenic (dominant)" "" "0000830299" "0" "70" "10" "43609939" "43609939" "subst" "4.13555E-6" "00006" "RET_000110" "g.43609939G>T" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.43114491G>T" "" "likely pathogenic (dominant)" "" "0000830300" "0" "90" "10" "43609948" "43609948" "subst" "1.23759E-5" "00006" "RET_000111" "g.43609948T>C" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.43114500T>C" "" "pathogenic (dominant)" "" "0000830301" "0" "90" "10" "43609948" "43609948" "subst" "1.23759E-5" "00006" "RET_000111" "g.43609948T>C" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.43114500T>C" "" "pathogenic (dominant)" "" "0000830302" "0" "90" "10" "43609949" "43609949" "subst" "4.1247E-6" "00006" "RET_000114" "g.43609949G>A" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.43114501G>A" "" "pathogenic (dominant)" "" "0000830303" "0" "90" "10" "43609949" "43609949" "subst" "4.1247E-6" "00006" "RET_000114" "g.43609949G>A" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.43114501G>A" "" "pathogenic (dominant)" "" "0000830304" "0" "90" "10" "43609950" "43609950" "subst" "4.12439E-6" "00006" "RET_000266" "g.43609950C>G" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.43114502C>G" "" "pathogenic (dominant)" "" "0000830305" "0" "70" "10" "43615613" "43615613" "subst" "0" "00006" "RET_000307" "g.43615613G>T" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.43120165G>T" "" "likely pathogenic (dominant)" "" "0000830306" "0" "90" "10" "43617416" "43617416" "subst" "4.06062E-6" "00006" "RET_000102" "g.43617416T>C" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.43121968T>C" "" "pathogenic (dominant)" "" "0000845116" "0" "50" "10" "43601830" "43601830" "subst" "0.000566645" "00006" "RET_000284" "g.43601830G>A" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.43106382G>A" "" "VUS" "" "0000852483" "0" "90" "10" "43601877" "43601877" "del" "0" "01943" "RET_000308" "g.43601877del" "" "" "" "RET(NM_020975.4):c.921delA (p.E309Sfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000852484" "0" "90" "10" "43613906" "43613906" "subst" "2.03174E-5" "02327" "RET_000104" "g.43613906G>T" "" "" "" "RET(NM_020975.4):c.2370G>T (p.L790F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000852485" "0" "90" "10" "43615592" "43615592" "subst" "1.22021E-5" "02327" "RET_000107" "g.43615592T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000852486" "0" "90" "10" "43617416" "43617416" "subst" "4.06062E-6" "02325" "RET_000102" "g.43617416T>C" "" "" "" "RET(NM_020975.4):c.2753T>C (p.M918T), RET(NM_020975.6):c.2753T>C (p.M918T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000852487" "0" "90" "10" "43619222" "43619222" "subst" "0" "02326" "RET_000311" "g.43619222C>T" "" "" "" "RET(NM_020975.4):c.2905C>T (p.R969W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861903" "0" "30" "10" "43595999" "43595999" "subst" "0.00275005" "01804" "RET_000226" "g.43595999C>A" "" "" "" "RET(NM_020630.4):c.166C>A (p.(Leu56Met)), RET(NM_020975.6):c.166C>A (p.L56M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861904" "0" "30" "10" "43601973" "43601973" "subst" "8.99545E-5" "02326" "RET_000309" "g.43601973G>A" "" "" "" "RET(NM_020975.4):c.1017G>A (p.S339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861905" "0" "30" "10" "43608353" "43608353" "subst" "0.000162455" "02325" "RET_000310" "g.43608353C>T" "" "" "" "RET(NM_020975.6):c.1701C>T (p.D567=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861906" "0" "50" "10" "43609104" "43609104" "subst" "0" "01943" "RET_000019" "g.43609104C>G" "" "" "" "RET(NM_020975.4):c.1860C>G (p.C620W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861907" "0" "30" "10" "43620335" "43620335" "subst" "0.0192692" "01804" "RET_000250" "g.43620335C>T" "" "" "" "RET(NM_020630.4):c.2944C>T (p.(Arg982Cys)), RET(NM_020975.4):c.2944C>T (p.R982C), RET(NM_020975.6):c.2944C>T (p.R982C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889126" "0" "30" "10" "43600581" "43600581" "subst" "0" "02325" "RET_000312" "g.43600581G>A" "" "" "" "RET(NM_020975.6):c.807G>A (p.A269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889127" "0" "50" "10" "43604498" "43604498" "subst" "1.63083E-5" "02325" "RET_000313" "g.43604498C>A" "" "" "" "RET(NM_020975.4):c.1083C>A (p.(Asn361Lys)), RET(NM_020975.6):c.1083C>A (p.N361K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889128" "0" "30" "10" "43609941" "43609941" "subst" "0.000123984" "02326" "RET_000238" "g.43609941C>T" "" "" "" "RET(NM_020975.4):c.1893C>T (p.D631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889129" "0" "30" "10" "43615013" "43615013" "subst" "5.99336E-5" "02326" "RET_000314" "g.43615013C>T" "" "" "" "RET(NM_020975.4):c.2427C>T (p.Y809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889130" "0" "30" "10" "43620367" "43620367" "subst" "0.00169731" "02326" "RET_000315" "g.43620367G>A" "" "" "" "RET(NM_020975.4):c.2976G>A (p.P992=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889131" "0" "50" "10" "43622096" "43622096" "subst" "1.62427E-5" "02326" "RET_000316" "g.43622096C>T" "" "" "" "RET(NM_020975.4):c.3113C>T (p.T1038I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913278" "0" "70" "10" "43600391" "43600391" "subst" "0" "02327" "RET_000317" "g.43600391G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913279" "0" "70" "10" "43600466" "43600466" "subst" "0" "02325" "RET_000318" "g.43600466G>A" "" "" "" "RET(NM_020975.6):c.692G>A (p.R231H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913280" "0" "70" "10" "43608404" "43608404" "subst" "0" "02325" "RET_000319" "g.43608404C>G" "" "" "" "RET(NM_020975.6):c.1752C>G (p.D584E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913281" "0" "10" "10" "43610085" "43610085" "subst" "0.00108342" "02329" "RET_000320" "g.43610085C>T" "" "" "" "RET(NM_020975.6):c.2037C>T (p.P679=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913282" "0" "30" "10" "43615004" "43615004" "subst" "0.000145942" "02326" "RET_000321" "g.43615004C>T" "" "" "" "RET(NM_020975.4):c.2418C>T (p.Y806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920367" "1" "90" "10" "43609124" "43609124" "subst" "0" "00006" "RET_000322" "g.43609124G>T" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "main disease-related variant" "Germline" "" "" "0" "" "" "g.43113676G>T" "" "pathogenic" "ACMG" "0000925149" "0" "50" "10" "43600477" "43600477" "subst" "0" "02325" "RET_000323" "g.43600477G>A" "" "" "" "RET(NM_020975.6):c.703G>A (p.E235K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925150" "0" "30" "10" "43604533" "43604533" "subst" "0.000577611" "02326" "RET_000324" "g.43604533C>T" "" "" "" "RET(NM_020975.4):c.1118C>T (p.A373V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925151" "0" "30" "10" "43609136" "43609136" "subst" "0.000280706" "02326" "RET_000325" "g.43609136C>T" "" "" "" "RET(NM_020975.4):c.1879+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925152" "0" "50" "10" "43613908" "43613908" "subst" "0.00209292" "02325" "RET_000105" "g.43613908A>T" "" "" "" "RET(NM_020975.4):c.2372A>T (p.Y791F), RET(NM_020975.6):c.2372A>T (p.Y791F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929676" "0" "50" "10" "43597980" "43597980" "subst" "0" "02325" "RET_000326" "g.43597980T>G" "" "" "" "RET(NM_020975.6):c.528T>G (p.I176M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929677" "0" "30" "10" "43615074" "43615074" "subst" "3.69191E-5" "02327" "RET_000327" "g.43615074G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929678" "0" "50" "10" "43622042" "43622042" "subst" "2.43675E-5" "02325" "RET_000251" "g.43622042C>T" "" "" "" "RET(NM_020975.4):c.3059C>T (p.A1020V, p.(Ala1020Val)), RET(NM_020975.6):c.3059C>T (p.A1020V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933315" "0" "50" "10" "43609994" "43609994" "subst" "0.000323174" "03628" "RET_000241" "g.43609994C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43114546C>T" "" "VUS" "ACMG" "0000949389" "0" "70" "10" "43596110" "43596110" "subst" "0" "02325" "RET_000328" "g.43596110G>A" "" "" "" "RET(NM_020975.6):c.277G>A (p.G93S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000949390" "0" "50" "10" "43606933" "43606933" "subst" "0" "01804" "RET_000329" "g.43606933A>T" "" "" "" "RET(NM_020630.4):c.1522+20A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949391" "0" "90" "10" "43609949" "43609949" "subst" "4.1247E-6" "02325" "RET_000114" "g.43609949G>A" "" "" "" "RET(NM_020975.4):c.1901G>A (p.C634Y), RET(NM_020975.6):c.1901G>A (p.C634Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949392" "0" "90" "10" "43615002" "43615002" "subst" "0" "02325" "RET_000330" "g.43615002T>G" "" "" "" "RET(NM_020975.6):c.2416T>G (p.Y806D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949393" "0" "90" "10" "43615003" "43615004" "ins" "0" "02325" "RET_000331" "g.43615003_43615004insGC" "" "" "" "RET(NM_020975.6):c.2417_2418insGC (p.Y806*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949394" "0" "30" "10" "43622003" "43622003" "subst" "0.000154692" "02326" "RET_000332" "g.43622003C>T" "" "" "" "RET(NM_020975.4):c.3040-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949395" "0" "30" "10" "43622095" "43622095" "subst" "0.000605032" "02326" "RET_000252" "g.43622095A>G" "" "" "" "RET(NM_020975.4):c.3112A>G (p.T1038A), RET(NM_020975.6):c.3112A>G (p.(Thr1038Ala), p.T1038A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965713" "0" "90" "10" "43604611" "43604611" "subst" "0" "02325" "RET_000333" "g.43604611C>T" "" "" "" "RET(NM_020975.6):c.1196C>T (p.P399L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000965714" "0" "30" "10" "43606856" "43606856" "subst" "0.00215943" "02326" "RET_000235" "g.43606856G>A" "" "" "" "RET(NM_020975.4):c.1465G>A (p.D489N), RET(NM_020975.6):c.1465G>A (p.D489N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965715" "0" "30" "10" "43613867" "43613867" "subst" "3.24939E-5" "02329" "RET_000245" "g.43613867C>T" "" "" "" "RET(NM_020975.4):c.2331C>T (p.N777=), RET(NM_020975.6):c.2331C>T (p.N777=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979029" "0" "70" "10" "43595928" "43595928" "subst" "0" "02327" "RET_000334" "g.43595928C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000979030" "0" "10" "10" "43597827" "43597827" "subst" "0.0073879" "01804" "RET_000229" "g.43597827C>A" "" "" "" "RET(NM_020630.4):c.375C>A (p.(Val125=)), RET(NM_020975.6):c.375C>A (p.V125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000979031" "0" "30" "10" "43600559" "43600559" "subst" "0.0002522" "01804" "RET_000231" "g.43600559T>C" "" "" "" "RET(NM_020975.4):c.785T>C (p.V262A), RET(NM_020975.6):c.785T>C (p.(Val262Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979032" "0" "30" "10" "43601894" "43601894" "subst" "0.000123071" "01804" "RET_000021" "g.43601894G>A" "" "" "" "RET(NM_020975.6):c.938G>A (p.(Arg313Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979033" "0" "50" "10" "43607615" "43607615" "subst" "0" "01804" "RET_000335" "g.43607615T>A" "" "" "" "RET(NM_020975.6):c.1591T>A (p.(Cys531Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979034" "0" "50" "10" "43609942" "43609942" "subst" "9.50013E-5" "01804" "RET_000336" "g.43609942G>A" "" "" "" "RET(NM_020975.6):c.1894G>A (p.(Glu632Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979035" "0" "50" "10" "43615142" "43615142" "subst" "0.000170915" "01804" "RET_000281" "g.43615142C>G" "" "" "" "RET(NM_020975.6):c.2556C>G (p.(Ile852Met), p.I852M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979036" "0" "50" "10" "43615578" "43615578" "subst" "2.44155E-5" "01804" "RET_000337" "g.43615578G>A" "" "" "" "RET(NM_020975.4):c.2657G>A (p.(Arg886Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979037" "0" "30" "10" "43615594" "43615594" "subst" "0.000256308" "02326" "RET_000338" "g.43615594G>A" "" "" "" "RET(NM_020630.4):c.2673G>A (p.(Ser891=)), RET(NM_020975.4):c.2673G>A (p.S891=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979038" "0" "30" "10" "43622095" "43622095" "subst" "0.000605032" "01804" "RET_000252" "g.43622095A>G" "" "" "" "RET(NM_020975.4):c.3112A>G (p.T1038A), RET(NM_020975.6):c.3112A>G (p.(Thr1038Ala), p.T1038A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979039" "0" "50" "10" "43622158" "43622158" "subst" "0" "01804" "RET_000339" "g.43622158A>G" "" "" "" "RET(NM_020975.6):c.3175A>G (p.(Asn1059Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987570" "21" "90" "10" "43614996" "43614996" "subst" "0.000126701" "04221" "RET_000106" "g.43614996G>A" "" "" "" "" "This variant was confirmed by Sanger sequencing in patient and parents (maternal confirmed). This variant was identified as a secondary finding in WES study; Chiloiro 2024:38339173, Miller 2022:35802134, Repetto 2022:35612671" "Germline" "yes" "rs79658334" "0" "" "" "g.43119548G>A" "{CV:37102}" "pathogenic (dominant)" "ACMG" "0000988483" "0" "50" "10" "43622051" "43622051" "subst" "0" "03779" "RET_000340" "g.43622051C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs138912894" "0" "" "" "" "" "VUS" "" "0000998284" "0" "30" "10" "43601964" "43601964" "subst" "8.17755E-6" "02325" "RET_000341" "g.43601964C>T" "" "" "" "RET(NM_020975.6):c.1008C>T (p.N336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998285" "0" "50" "10" "43604498" "43604498" "subst" "1.63083E-5" "01804" "RET_000313" "g.43604498C>A" "" "" "" "RET(NM_020975.4):c.1083C>A (p.(Asn361Lys)), RET(NM_020975.6):c.1083C>A (p.N361K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998286" "0" "30" "10" "43604597" "43604597" "subst" "3.25201E-5" "02325" "RET_000342" "g.43604597C>T" "" "" "" "RET(NM_020975.6):c.1182C>T (p.N394=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998287" "0" "10" "10" "43606650" "43606650" "subst" "0.00821105" "02327" "RET_000233" "g.43606650C>T" "" "" "" "RET(NM_020630.4):c.1264-5C>T (p.?), RET(NM_020975.4):c.1264-5C>T, RET(NM_020975.6):c.1264-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000998288" "0" "50" "10" "43610033" "43610033" "subst" "0" "01804" "RET_000343" "g.43610033A>G" "" "" "" "RET(NM_020975.4):c.1985A>G (p.(Lys662Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998289" "0" "30" "10" "43610078" "43610078" "subst" "4.47937E-5" "01804" "RET_000344" "g.43610078G>A" "" "" "" "RET(NM_020975.4):c.2030G>A (p.(Arg677Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998290" "0" "30" "10" "43610118" "43610118" "subst" "3.67044E-5" "01804" "RET_000345" "g.43610118C>T" "" "" "" "RET(NM_020630.4):c.2070C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998291" "0" "50" "10" "43610129" "43610129" "subst" "0.000118363" "02327" "RET_000115" "g.43610129G>A" "" "" "" "RET(NM_020975.6):c.2081G>A (p.R694Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998292" "0" "50" "10" "43612152" "43612152" "subst" "0" "01804" "RET_000346" "g.43612152A>C" "" "" "" "RET(NM_020975.4):c.2257A>C (p.(Thr753Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998293" "0" "50" "10" "43615050" "43615050" "subst" "0" "01804" "RET_000347" "g.43615050G>A" "" "" "" "RET(NM_020975.4):c.2464G>A (p.(Val822Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998294" "0" "30" "10" "43622042" "43622042" "subst" "2.43675E-5" "01804" "RET_000251" "g.43622042C>T" "" "" "" "RET(NM_020975.4):c.3059C>T (p.A1020V, p.(Ala1020Val)), RET(NM_020975.6):c.3059C>T (p.A1020V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998295" "0" "50" "10" "43623658" "43623658" "subst" "4.06055E-6" "01804" "RET_000348" "g.43623658T>C" "" "" "" "RET(NM_020975.4):c.3286T>C (p.(Tyr1096His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014617" "0" "30" "10" "43597857" "43597857" "subst" "0.000166522" "01804" "RET_000349" "g.43597857C>T" "" "" "" "RET(NM_020630.4):c.405C>T (p.(Gly135=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014618" "0" "30" "10" "43597920" "43597920" "subst" "0.000426382" "02327" "RET_000350" "g.43597920C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014619" "0" "30" "10" "43609140" "43609140" "subst" "8.67267E-5" "02326" "RET_000351" "g.43609140C>T" "" "" "" "RET(NM_020975.4):c.1879+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014620" "0" "30" "10" "43612012" "43612012" "subst" "0" "01804" "RET_000352" "g.43612012T>G" "" "" "" "RET(NM_020630.4):c.2137-20T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014621" "0" "30" "10" "43620388" "43620388" "subst" "6.49699E-5" "02329" "RET_000353" "g.43620388G>A" "" "" "" "RET(NM_020975.6):c.2997G>A (p.A999=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001021299" "0" "90" "10" "43615592" "43615592" "subst" "1.22021E-5" "02765" "RET_000107" "g.43615592T>G" "" "" "" "2491T>G (Ser891Ala)" "" "Germline" "" "" "0" "" "" "g.43120144T>G" "" "pathogenic" "ACMG" "0001025740" "0" "30" "10" "43596033" "43596033" "subst" "0.00102442" "02327" "RET_000227" "g.43596033G>A" "" "" "" "RET(NM_020975.6):c.200G>A (p.R67H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025741" "0" "50" "10" "43609942" "43609942" "subst" "9.50013E-5" "02327" "RET_000336" "g.43609942G>A" "" "" "" "RET(NM_020975.6):c.1894G>A (p.(Glu632Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025742" "0" "70" "10" "43609995" "43609995" "subst" "0" "02325" "RET_000354" "g.43609995G>A" "" "" "" "RET(NM_020975.6):c.1947G>A (p.S649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025743" "0" "30" "10" "43610085" "43610085" "subst" "0.00108342" "02327" "RET_000320" "g.43610085C>T" "" "" "" "RET(NM_020975.6):c.2037C>T (p.P679=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025744" "0" "30" "10" "43622085" "43622085" "subst" "1.21818E-5" "01804" "RET_000355" "g.43622085A>G" "" "" "" "RET(NM_020630.4):c.3102A>G (p.(Ser1034=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001030025" "0" "50" "10" "43609105" "43609105" "subst" "0" "03779" "RET_000356" "g.43609105G>A" "" "" "" "" "" "Unknown" "" "rs1228204486" "0" "" "" "" "" "VUS" "" "0001037897" "0" "50" "10" "43596029" "43596029" "subst" "0" "02325" "RET_000357" "g.43596029T>A" "" "" "" "RET(NM_020975.6):c.196T>A (p.F66I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037898" "0" "90" "10" "43609076" "43609077" "delins" "0" "02327" "RET_000358" "g.43609076_43609077delinsAT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001037899" "0" "50" "10" "43613907" "43613907" "subst" "4.06379E-5" "02325" "RET_000359" "g.43613907T>A" "" "" "" "RET(NM_020975.6):c.2371T>A (p.Y791N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037900" "0" "90" "10" "43614996" "43614996" "subst" "0.000126701" "02325" "RET_000106" "g.43614996G>A" "" "" "" "RET(NM_020975.4):c.2410G>A (p.V804M), RET(NM_020975.6):c.2410G>A (p.V804M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001037901" "0" "50" "10" "43615117" "43615117" "subst" "4.06994E-6" "01804" "RET_000280" "g.43615117G>T" "" "" "" "RET(NM_020975.6):c.2531G>T (p.(Arg844Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045033" "0" "50" "10" "43609122" "43609122" "subst" "3.69258E-5" "03779" "RET_000360" "g.43609122G>A" "" "" "" "" "" "Unknown" "" "rs147692872" "0" "" "" "" "" "VUS" "" "0001045578" "0" "90" "10" "43606763" "43606763" "dup" "0" "01741" "RET_000361" "g.43606763dup" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.43111315dup" "" "pathogenic" "" "0001046236" "0" "50" "10" "43572753" "43572753" "subst" "0" "02325" "RET_000362" "g.43572753T>C" "" "" "" "RET(NM_020975.6):c.47T>C (p.L16P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046237" "0" "30" "10" "43615594" "43615594" "subst" "0.000256308" "01804" "RET_000338" "g.43615594G>A" "" "" "" "RET(NM_020630.4):c.2673G>A (p.(Ser891=)), RET(NM_020975.4):c.2673G>A (p.S891=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047201" "0" "10" "10" "43620335" "43620335" "subst" "0.0192692" "03779" "RET_000250" "g.43620335C>T" "" "" "" "" "" "Unknown" "" "rs17158558" "0" "" "" "" "" "benign" "" "0001047261" "0" "90" "10" "43615592" "43615592" "subst" "1.22021E-5" "03779" "RET_000107" "g.43615592T>G" "" "" "" "" "" "Unknown" "" "rs75234356" "0" "" "" "" "" "pathogenic" "" "0001047495" "0" "30" "10" "43613908" "43613908" "subst" "0.00209292" "03779" "RET_000105" "g.43613908A>T" "" "" "" "" "" "Unknown" "" "rs77724903" "0" "" "" "" "" "likely benign" "" "0001047574" "0" "50" "10" "43622095" "43622095" "subst" "0.000605032" "03779" "RET_000252" "g.43622095A>G" "" "" "" "" "" "Unknown" "" "rs201740483" "0" "" "" "" "" "VUS" "" "0001047987" "0" "50" "10" "43615117" "43615117" "subst" "4.47693E-5" "03779" "RET_000363" "g.43615117G>A" "" "" "" "" "" "Unknown" "" "rs55947360" "0" "" "" "" "" "VUS" "" "0001048005" "0" "10" "10" "43617536" "43617536" "subst" "0" "03779" "RET_000364" "g.43617536G>A" "" "" "" "" "" "Unknown" "" "rs3026773" "0" "" "" "" "" "benign" "" "0001048032" "0" "50" "10" "43619163" "43619163" "subst" "0" "03779" "RET_000365" "g.43619163G>A" "" "" "" "" "" "Unknown" "" "rs2133004812" "0" "" "" "" "" "VUS" "" "0001048037" "0" "90" "10" "43613906" "43613906" "subst" "2.03174E-5" "03779" "RET_000104" "g.43613906G>T" "" "" "" "" "" "Unknown" "" "rs75030001" "0" "" "" "" "" "pathogenic" "" "0001048435" "0" "50" "10" "43619248" "43619248" "subst" "" "03779" "chr10_006530" "g.43619248C>G" "" "" "" "" "" "Unknown" "" "rs375414982" "0" "" "" "" "" "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 RET ## Count = 295 "{{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}}" "0000063854" "00017640" "90" "1901" "0" "1901" "0" "c.1901G>T" "r.(?)" "p.(Cys634Phe)" "" "0000063855" "00017640" "90" "1900" "0" "1900" "0" "c.1900T>C" "r.(?)" "p.(Cys634Arg)" "" "0000063856" "00017640" "90" "1901" "0" "1901" "0" "c.1901G>A" "r.(?)" "p.(Cys634Tyr)" "" "0000063857" "00017640" "90" "1859" "0" "1859" "0" "c.1859G>T" "r.(?)" "p.(Cys620Phe)" "" "0000063858" "00017640" "90" "1853" "0" "1853" "0" "c.1853G>C" "r.(?)" "p.(Cys618Ser)" "" "0000063859" "00017640" "90" "1852" "0" "1852" "0" "c.1852T>C" "r.(?)" "p.(Cys618Arg)" "" "0000063860" "00017640" "50" "2284" "54" "2284" "54" "c.2284+54C>T" "r.(=)" "p.(=)" "" "0000063861" "00017640" "90" "1832" "0" "1832" "0" "c.1832G>A" "r.(?)" "p.(Cys611Tyr)" "" "0000063862" "00017640" "90" "1825" "0" "1825" "0" "c.1825T>C" "r.(?)" "p.(Cys609Arg)" "" "0000063863" "00017640" "90" "2370" "0" "2370" "0" "c.2370G>T" "r.(?)" "p.(Leu790Phe)" "" "0000063864" "00017640" "10" "2372" "0" "2372" "0" "c.2372A>T" "r.(?)" "p.(Tyr791Phe)" "" "0000063865" "00017640" "50" "626" "-72" "626" "-71" "c.626-72_626-71del" "r.(=)" "p.(=)" "" "0000063866" "00017640" "90" "2689" "0" "2689" "0" "c.2689C>T" "r.(?)" "p.(Arg897*)" "" "0000063867" "00017640" "90" "1900" "0" "1900" "0" "c.1900T>A" "r.(?)" "p.(Cys634Ser)" "" "0000063868" "00017640" "90" "2410" "0" "2410" "0" "c.2410G>A" "r.(?)" "p.(Val804Met)" "" "0000063869" "00017640" "90" "2753" "0" "2753" "0" "c.2753T>C" "r.(?)" "p.(Met918Thr)" "" "0000063870" "00017640" "90" "2671" "0" "2671" "0" "c.2671T>G" "r.(?)" "p.(Ser891Ala)" "" "0000063871" "00017640" "10" "2081" "0" "2081" "0" "c.2081G>A" "r.(?)" "p.(Arg694Gln)" "" "0000063872" "00017640" "90" "1891" "0" "1891" "0" "c.1891G>T" "r.(?)" "p.(Asp631Tyr)" "" "0000076110" "00017640" "90" "2410" "0" "2410" "0" "c.2410G>A" "r.(?)" "p.(Val804Met)" "" "0000076755" "00017640" "90" "1997" "0" "1997" "0" "c.1997A>T" "r.(?)" "p.(Lys666Met)" "11" "0000076758" "00017640" "90" "1997" "0" "1997" "0" "c.1997A>T" "r.(?)" "p.(Lys666Met)" "11" "0000076759" "00017640" "90" "1997" "0" "1997" "0" "c.1997A>T" "r.(?)" "p.(Lys666Met)" "11" "0000076762" "00017640" "90" "1997" "0" "1997" "0" "c.1997A>T" "r.(?)" "p.(Lys666Met)" "11" "0000076784" "00017640" "90" "2410" "0" "2410" "0" "c.2410G>A" "r.(?)" "p.(Val804Met)" "14" "0000132304" "00017640" "50" "3116" "0" "3116" "0" "c.3116C>T" "r.(?)" "p.(Pro1039Leu)" "19" "0000248197" "00017640" "10" "1296" "0" "1296" "0" "c.1296A>G" "r.(?)" "p.(Ala432=)" "" "0000248627" "00017640" "10" "135" "0" "135" "0" "c.135=" "r.(=)" "p.(Ala45=)" "" "0000250395" "00017640" "30" "3112" "0" "3112" "0" "c.3112A>G" "r.(?)" "p.(Thr1038Ala)" "" "0000250900" "00017640" "10" "1296" "0" "1296" "0" "c.1296A>G" "r.(?)" "p.(Ala432=)" "" "0000252797" "00017640" "50" "2372" "0" "2372" "0" "c.2372A>T" "r.(?)" "p.(Tyr791Phe)" "" "0000297646" "00017640" "10" "3187" "47" "3187" "47" "c.3187+47T>C" "r.(=)" "p.(=)" "" "0000297648" "00017640" "30" "166" "0" "166" "0" "c.166C>A" "r.(?)" "p.(Leu56Met)" "" "0000297649" "00017640" "10" "2071" "0" "2071" "0" "c.2071G>A" "r.(?)" "p.(Gly691Ser)" "" "0000297650" "00017640" "10" "2307" "0" "2307" "0" "c.2307=" "r.(=)" "p.(Leu769=)" "" "0000297652" "00017640" "30" "2331" "0" "2331" "0" "c.2331C>T" "r.(?)" "p.(Asn777=)" "" "0000297653" "00017640" "10" "2508" "0" "2508" "0" "c.2508C>T" "r.(?)" "p.(Ser836=)" "" "0000297654" "00017640" "10" "2712" "0" "2712" "0" "c.2712C>G" "r.(?)" "p.(Ser904=)" "" "0000297655" "00017640" "10" "2944" "0" "2944" "0" "c.2944C>T" "r.(?)" "p.(Arg982Cys)" "" "0000297656" "00017640" "10" "337" "9" "337" "9" "c.337+9G>A" "r.(=)" "p.(=)" "" "0000297657" "00017640" "10" "375" "0" "375" "0" "c.375C>A" "r.(?)" "p.(Val125=)" "" "0000299305" "00017640" "10" "1264" "-5" "1264" "-5" "c.1264-5C>T" "r.spl?" "p.?" "" "0000299306" "00017640" "10" "1465" "0" "1465" "0" "c.1465G>A" "r.(?)" "p.(Asp489Asn)" "" "0000299307" "00017640" "10" "166" "0" "166" "0" "c.166C>A" "r.(?)" "p.(Leu56Met)" "" "0000299308" "00017640" "30" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Arg67His)" "" "0000299309" "00017640" "50" "2081" "0" "2081" "0" "c.2081G>A" "r.(?)" "p.(Arg694Gln)" "" "0000299310" "00017640" "10" "2944" "0" "2944" "0" "c.2944C>T" "r.(?)" "p.(Arg982Cys)" "" "0000299311" "00017640" "10" "375" "0" "375" "0" "c.375C>A" "r.(?)" "p.(Val125=)" "" "0000299312" "00017640" "30" "56" "0" "58" "0" "c.56_58del" "r.(?)" "p.(Leu19del)" "" "0000299313" "00017640" "30" "625" "10" "625" "10" "c.625+10G>A" "r.(=)" "p.(=)" "" "0000301424" "00017640" "10" "1264" "-5" "1264" "-5" "c.1264-5C>T" "r.spl?" "p.?" "" "0000301425" "00017640" "90" "1832" "0" "1832" "0" "c.1832G>A" "r.(?)" "p.(Cys611Tyr)" "" "0000301426" "00017640" "90" "1852" "0" "1852" "0" "c.1852T>A" "r.(?)" "p.(Cys618Ser)" "" "0000301427" "00017640" "90" "1853" "0" "1853" "0" "c.1853G>C" "r.(?)" "p.(Cys618Ser)" "" "0000301428" "00017640" "90" "1858" "0" "1858" "0" "c.1858T>C" "r.(?)" "p.(Cys620Arg)" "" "0000301429" "00017640" "90" "1859" "0" "1859" "0" "c.1859G>T" "r.(?)" "p.(Cys620Phe)" "" "0000301430" "00017640" "90" "1900" "0" "1900" "0" "c.1900T>C" "r.(?)" "p.(Cys634Arg)" "" "0000301431" "00017640" "90" "1900" "0" "1900" "0" "c.1900T>G" "r.(?)" "p.(Cys634Gly)" "" "0000301432" "00017640" "90" "1901" "0" "1901" "0" "c.1901G>A" "r.(?)" "p.(Cys634Tyr)" "" "0000301433" "00017640" "90" "1901" "0" "1901" "0" "c.1901G>C" "r.(?)" "p.(Cys634Ser)" "" "0000301434" "00017640" "30" "1946" "0" "1946" "0" "c.1946C>T" "r.(?)" "p.(Ser649Leu)" "" "0000301435" "00017640" "30" "2331" "0" "2331" "0" "c.2331C>T" "r.(?)" "p.(Asn777=)" "" "0000301436" "00017640" "90" "2370" "0" "2370" "0" "c.2370G>T" "r.(?)" "p.(Leu790Phe)" "" "0000301437" "00017640" "90" "2410" "0" "2410" "0" "c.2410G>A" "r.(?)" "p.(Val804Met)" "" "0000301438" "00017640" "90" "2410" "0" "2410" "0" "c.2410G>C" "r.(?)" "p.(Val804Leu)" "" "0000301439" "00017640" "10" "2508" "0" "2508" "0" "c.2508C>T" "r.(?)" "p.(Ser836=)" "" "0000301440" "00017640" "10" "2712" "0" "2712" "0" "c.2712C>G" "r.(?)" "p.(Ser904=)" "" "0000301441" "00017640" "50" "2738" "0" "2738" "0" "c.2738T>C" "r.(?)" "p.(Ile913Thr)" "" "0000301442" "00017640" "90" "2753" "0" "2753" "0" "c.2753T>C" "r.(?)" "p.(Met918Thr)" "" "0000301443" "00017640" "10" "2944" "0" "2944" "0" "c.2944C>T" "r.(?)" "p.(Arg982Cys)" "" "0000301444" "00017640" "10" "785" "0" "785" "0" "c.785T>C" "r.(?)" "p.(Val262Ala)" "" "0000307033" "00017640" "30" "1893" "0" "1893" "0" "c.1893C>T" "r.(?)" "p.(Asp631=)" "" "0000307034" "00017640" "50" "3059" "0" "3059" "0" "c.3059C>T" "r.(?)" "p.(Ala1020Val)" "" "0000307035" "00017640" "10" "833" "0" "833" "0" "c.833C>A" "r.(?)" "p.(Thr278Asn)" "" "0000338096" "00017640" "30" "2392" "19" "2392" "19" "c.2392+19T>C" "r.(=)" "p.(=)" "" "0000338097" "00017640" "10" "2608" "-24" "2608" "-24" "c.2608-24G>A" "r.(=)" "p.(=)" "" "0000340077" "00017640" "10" "375" "0" "375" "0" "c.375C>A" "r.(?)" "p.(Val125=)" "" "0000340079" "00017640" "10" "1296" "0" "1296" "0" "c.1296A>G" "r.(?)" "p.(Ala432=)" "" "0000340082" "00017640" "10" "2508" "0" "2508" "0" "c.2508C>T" "r.(?)" "p.(Ser836=)" "" "0000340083" "00017640" "10" "2712" "0" "2712" "0" "c.2712C>G" "r.(?)" "p.(Ser904=)" "" "0000344431" "00017640" "90" "1832" "0" "1832" "0" "c.1832G>A" "r.(?)" "p.(Cys611Tyr)" "" "0000344436" "00017640" "90" "1900" "0" "1900" "0" "c.1900T>C" "r.(?)" "p.(Cys634Arg)" "" "0000344437" "00017640" "90" "1901" "0" "1901" "0" "c.1901G>A" "r.(?)" "p.(Cys634Tyr)" "" "0000345010" "00017640" "50" "2791" "0" "2791" "0" "c.2791C>A" "r.(?)" "p.(Gln931Lys)" "" "0000346222" "00017640" "10" "2071" "0" "2071" "0" "c.2071G>A" "r.(?)" "p.(Gly691Ser)" "" "0000346256" "00017640" "50" "2243" "0" "2243" "0" "c.2243G>A" "r.(?)" "p.(Gly748Asp)" "" "0000347232" "00017640" "10" "166" "0" "166" "0" "c.166C>A" "r.(?)" "p.(Leu56Met)" "" "0000347331" "00017640" "50" "2641" "0" "2641" "0" "c.2641C>G" "r.(?)" "p.(Leu881Val)" "" "0000349407" "00017640" "50" "833" "0" "833" "0" "c.833C>A" "r.(?)" "p.(Thr278Asn)" "" "0000350196" "00017640" "30" "2372" "0" "2372" "0" "c.2372A>T" "r.(?)" "p.(Tyr791Phe)" "" "0000350666" "00017640" "90" "2410" "0" "2410" "0" "c.2410G>A" "r.(?)" "p.(Val804Met)" "" "0000350753" "00017640" "70" "2940" "-18" "2940" "-4" "c.2940-18_2940-4del" "r.spl?" "p.?" "" "0000351196" "00017640" "10" "337" "9" "337" "9" "c.337+9G>A" "r.(=)" "p.(=)" "" "0000439887" "00017640" "90" "2410" "0" "2410" "0" "c.2410G>A" "r.(?)" "p.Val804Met" "" "0000442482" "00017640" "50" "1549" "0" "1549" "0" "c.1549C>G" "r.(?)" "p.Leu517Val" "" "0000455672" "00017640" "55" "-37" "0" "-37" "0" "c.-37G>C" "r.(?)" "p.(=)" "?" "0000455673" "00017640" "55" "938" "0" "938" "0" "c.938G>A" "r.(?)" "p.(Arg313Gln)" "5" "0000455674" "00017640" "55" "1063" "9" "1063" "9" "c.1063+9G>A" "r.(spl?)" "p.(=)" "5i" "0000455675" "00017640" "55" "1825" "0" "1825" "0" "c.1825T>C" "r.(?)" "p.(Cys609Arg)" "10" "0000455676" "00017640" "55" "1825" "0" "1825" "0" "c.1825T>G" "r.(?)" "p.(Cys609Gly)" "10" "0000455677" "00017640" "55" "1826" "0" "1826" "0" "c.1826G>A" "r.(?)" "p.(Cys609Tyr)" "10" "0000455678" "00017640" "55" "1826" "0" "1826" "0" "c.1826G>C" "r.(?)" "p.(Cys609Ser)" "10" "0000455679" "00017640" "55" "1826" "0" "1826" "0" "c.1826G>T" "r.(?)" "p.(Cys609Phe)" "10" "0000455680" "00017640" "55" "1832" "0" "1832" "0" "c.1832G>A" "r.(?)" "p.(Cys611Tyr)" "10" "0000455681" "00017640" "55" "1832" "0" "1832" "0" "c.1832G>T" "r.(?)" "p.(Cys611Phe)" "10" "0000455682" "00017640" "55" "1832" "0" "1832" "0" "c.1832G>T" "r.(?)" "p.(Cys611Phe)" "10" "0000455683" "00017640" "55" "1833" "0" "1833" "0" "c.1833C>G" "r.(?)" "p.(Cys611Trp)" "10" "0000455684" "00017640" "55" "1852" "0" "1852" "0" "c.1852T>A" "r.(?)" "p.(Cys618Ser)" "10" "0000455685" "00017640" "55" "1852" "0" "1852" "0" "c.1852T>C" "r.(?)" "p.(Cys618Arg)" "10" "0000455686" "00017640" "55" "1852" "0" "1852" "0" "c.1852T>G" "r.(?)" "p.(Cys618Gly)" "10" "0000455687" "00017640" "55" "1853" "0" "1853" "0" "c.1853G>A" "r.(?)" "p.(Cys618Tyr)" "10" "0000455688" "00017640" "55" "1853" "0" "1853" "0" "c.1853G>C" "r.(?)" "p.(Cys618Ser)" "10" "0000455689" "00017640" "55" "1853" "0" "1853" "0" "c.1853G>T" "r.(?)" "p.(Cys618Phe)" "10" "0000455690" "00017640" "55" "1858" "0" "1858" "0" "c.1858T>C" "r.(?)" "p.(Cys620Arg)" "10" "0000455691" "00017640" "55" "1858" "0" "1858" "0" "c.1858T>G" "r.(?)" "p.(Cys620Gly)" "10" "0000455692" "00017640" "55" "1859" "0" "1859" "0" "c.1859G>A" "r.(?)" "p.(Cys620Tyr)" "10" "0000455693" "00017640" "55" "1859" "0" "1859" "0" "c.1859G>C" "r.(?)" "p.(Cys620Ser)" "10" "0000455694" "00017640" "55" "1859" "0" "1859" "0" "c.1859G>T" "r.(?)" "p.(Cys620Phe)" "10" "0000455695" "00017640" "55" "1860" "0" "1860" "0" "c.1860C>G" "r.(?)" "p.(Cys620Trp)" "10" "0000455696" "00017640" "55" "2348" "0" "2348" "0" "c.2348A>G" "r.(?)" "p.(Asn783Ser)" "13" "0000455697" "00017640" "55" "3118" "0" "3121" "0" "c.3118_3121del" "r.(?)" "p.(Leu1040Trpfs*68)" "19" "0000539877" "00017640" "30" "135" "0" "135" "0" "c.135=" "r.(=)" "p.(Ala45=)" "" "0000539878" "00017640" "10" "337" "9" "337" "9" "c.337+9G>A" "r.(=)" "p.(=)" "" "0000539879" "00017640" "50" "448" "0" "450" "0" "c.448_450del" "r.(?)" "p.(Phe150del)" "" "0000539880" "00017640" "70" "989" "0" "989" "0" "c.989G>A" "r.(?)" "p.(Arg330Gln)" "" "0000539881" "00017640" "10" "1264" "-5" "1264" "-5" "c.1264-5C>T" "r.spl?" "p.?" "" "0000539882" "00017640" "50" "1266" "0" "1266" "0" "c.1266C>G" "r.(?)" "p.(Ile422Met)" "" "0000539883" "00017640" "10" "1296" "0" "1296" "0" "c.1296A>G" "r.(?)" "p.(Ala432=)" "" "0000539884" "00017640" "50" "1814" "0" "1814" "0" "c.1814G>T" "r.(?)" "p.(Gly605Val)" "" "0000539885" "00017640" "90" "1853" "0" "1853" "0" "c.1853G>C" "r.(?)" "p.(Cys618Ser)" "" "0000539886" "00017640" "90" "1859" "0" "1859" "0" "c.1859G>T" "r.(?)" "p.(Cys620Phe)" "" "0000539887" "00017640" "90" "1860" "0" "1860" "0" "c.1860C>A" "r.(?)" "p.(Cys620Ter)" "" "0000539888" "00017640" "90" "1902" "0" "1902" "0" "c.1902C>G" "r.(?)" "p.(Cys634Trp)" "" "0000539889" "00017640" "50" "1939" "0" "1939" "0" "c.1939A>G" "r.(?)" "p.(Ile647Val)" "" "0000539890" "00017640" "30" "1942" "0" "1942" "0" "c.1942G>A" "r.(?)" "p.(Val648Ile)" "" "0000539891" "00017640" "30" "2052" "0" "2052" "0" "c.2052G>A" "r.(?)" "p.(Pro684=)" "" "0000539892" "00017640" "10" "2071" "0" "2071" "0" "c.2071G>A" "r.(?)" "p.(Gly691Ser)" "" "0000539893" "00017640" "90" "2304" "0" "2304" "0" "c.2304G>C" "r.(?)" "p.(Glu768Asp)" "" "0000539894" "00017640" "30" "2307" "0" "2307" "0" "c.2307=" "r.(=)" "p.(Leu769=)" "" "0000539895" "00017640" "30" "2331" "0" "2331" "0" "c.2331C>T" "r.(?)" "p.(Asn777=)" "" "0000539896" "00017640" "10" "2508" "0" "2508" "0" "c.2508C>T" "r.(?)" "p.(Ser836=)" "" "0000539897" "00017640" "10" "2712" "0" "2712" "0" "c.2712C>G" "r.(?)" "p.(Ser904=)" "" "0000539898" "00017640" "10" "2944" "0" "2944" "0" "c.2944C>T" "r.(?)" "p.(Arg982Cys)" "" "0000539899" "00017640" "50" "2982" "0" "2982" "0" "c.2982A>C" "r.(?)" "p.(Lys994Asn)" "" "0000539900" "00017640" "50" "3094" "0" "3094" "0" "c.3094G>A" "r.(?)" "p.(Gly1032Ser)" "" "0000612460" "00017640" "50" "539" "0" "539" "0" "c.539G>A" "r.(?)" "p.(Arg180Gln)" "" "0000612461" "00017640" "30" "1030" "0" "1030" "0" "c.1030G>A" "r.(?)" "p.(Gly344Ser)" "" "0000612462" "00017640" "50" "1666" "0" "1668" "0" "c.1666_1668del" "r.(?)" "p.(Ser556del)" "" "0000612463" "00017640" "50" "1727" "0" "1727" "0" "c.1727A>C" "r.(?)" "p.(Gln576Pro)" "" "0000612464" "00017640" "30" "1941" "0" "1941" "0" "c.1941C>T" "r.(?)" "p.(Ile647=)" "" "0000612465" "00017640" "50" "2005" "0" "2005" "0" "c.2005A>G" "r.(?)" "p.(Ile669Val)" "" "0000612467" "00017640" "50" "2556" "0" "2556" "0" "c.2556C>G" "r.(?)" "p.(Ile852Met)" "" "0000622385" "00017640" "30" "1596" "0" "1596" "0" "c.1596C>T" "r.(?)" "p.(Gly532=)" "" "0000622386" "00017640" "70" "2801" "2" "2801" "2" "c.2801+2dup" "r.spl?" "p.?" "" "0000647896" "00017640" "10" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "" "0000647897" "00017640" "50" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Val292Met)" "" "0000647898" "00017640" "70" "1998" "0" "1998" "0" "c.1998G>T" "r.(?)" "p.(Lys666Asn)" "" "0000647899" "00017640" "50" "2556" "0" "2556" "0" "c.2556C>G" "r.(?)" "p.(Ile852Met)" "" "0000647900" "00017640" "50" "2611" "0" "2611" "0" "c.2611G>A" "r.(?)" "p.(Val871Ile)" "" "0000647901" "00017640" "50" "2944" "0" "2944" "0" "c.2944C>T" "r.(?)" "p.(Arg982Cys)" "" "0000653473" "00017640" "70" "1998" "0" "1998" "0" "c.1998G>T" "r.(?)" "p.(Lys666Asn)" "" "0000656486" "00017640" "30" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Asp567Asn)" "" "0000669059" "00017640" "50" "2944" "0" "2944" "0" "c.2944C>T" "r.(?)" "p.(Arg982Cys)" "" "0000675117" "00017640" "90" "1711" "0" "1711" "0" "c.1711G>A" "r.(1711g>a)" "p.(Asp571Asn)" "" "0000678844" "00017640" "30" "3112" "0" "3112" "0" "c.3112A>G" "r.(?)" "p.(Thr1038Ala)" "" "0000684777" "00017640" "30" "833" "0" "833" "0" "c.833C>A" "r.(?)" "p.(Thr278Asn)" "" "0000690719" "00017640" "50" "1514" "0" "1514" "0" "c.1514A>T" "r.(?)" "p.(Glu505Val)" "" "0000699854" "00017640" "70" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Asp567Asn)" "" "0000699886" "00017640" "70" "2063" "0" "2063" "0" "c.2063C>T" "r.(?)" "p.(Ser688Phe)" "" "0000699891" "00017640" "70" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Arg635Cys)" "" "0000699939" "00017640" "70" "2081" "0" "2081" "0" "c.2081G>A" "r.(?)" "p.(Arg694Gln)" "" "0000703842" "00017640" "30" "722" "0" "722" "0" "c.722C>T" "r.(?)" "p.(Ala241Val)" "" "0000722812" "00017640" "50" "907" "0" "907" "0" "c.907G>A" "r.(?)" "p.(Val303Met)" "" "0000722813" "00017640" "70" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Arg348Trp)" "" "0000722814" "00017640" "50" "1756" "0" "1756" "0" "c.1756C>T" "r.(?)" "p.(Leu586Phe)" "" "0000722815" "00017640" "50" "1759" "0" "1759" "0" "c.1759C>T" "r.(?)" "p.(Arg587Trp)" "" "0000722816" "00017640" "50" "2298" "0" "2298" "0" "c.2298G>A" "r.(?)" "p.(Pro766=)" "" "0000722817" "00017640" "90" "3182" "0" "3182" "0" "c.3182T>C" "r.(?)" "p.(Leu1061Pro)" "" "0000788001" "00017640" "90" "1832" "0" "1832" "0" "c.1832G>A" "r.(?)" "p.(Cys611Tyr)" "" "0000804414" "00017640" "50" "549" "0" "549" "0" "c.549C>T" "r.(?)" "p.(Gly183=)" "" "0000804415" "00017640" "30" "597" "0" "597" "0" "c.597C>T" "r.(?)" "p.(Asn199=)" "" "0000804416" "00017640" "50" "1597" "0" "1597" "0" "c.1597G>A" "r.(?)" "p.(Gly533Ser)" "" "0000804417" "00017640" "90" "1759" "1" "1759" "1" "c.1759+1G>A" "r.spl?" "p.?" "" "0000804418" "00017640" "50" "1799" "0" "1799" "0" "c.1799G>A" "r.(?)" "p.(Arg600Gln)" "" "0000804419" "00017640" "90" "1832" "0" "1832" "0" "c.1832G>A" "r.(?)" "p.(Cys611Tyr)" "" "0000804421" "00017640" "30" "2052" "0" "2052" "0" "c.2052G>A" "r.(?)" "p.(Pro684=)" "" "0000804422" "00017640" "50" "2477" "0" "2477" "0" "c.2477A>G" "r.(?)" "p.(Tyr826Cys)" "" "0000804423" "00017640" "10" "2508" "0" "2508" "0" "c.2508C>T" "r.(?)" "p.(Ser836=)" "" "0000830296" "00017640" "70" "1891" "0" "1891" "0" "c.1891G>T" "r.(?)" "p.(Asp631Tyr)" "" "0000830297" "00017640" "70" "1891" "0" "1891" "0" "c.1891G>T" "r.(?)" "p.(Asp631Tyr)" "" "0000830298" "00017640" "70" "1891" "0" "1891" "0" "c.1891G>T" "r.(?)" "p.(Asp631Tyr)" "" "0000830299" "00017640" "70" "1891" "0" "1891" "0" "c.1891G>T" "r.(?)" "p.(Asp631Tyr)" "" "0000830300" "00017640" "90" "1900" "0" "1900" "0" "c.1900T>C" "r.(?)" "p.(Cys634Arg)" "" "0000830301" "00017640" "90" "1900" "0" "1900" "0" "c.1900T>C" "r.(?)" "p.(Cys634Arg)" "" "0000830302" "00017640" "90" "1901" "0" "1901" "0" "c.1901G>A" "r.(?)" "p.(Cys634Tyr)" "" "0000830303" "00017640" "90" "1901" "0" "1901" "0" "c.1901G>A" "r.(?)" "p.(Cys634Tyr)" "" "0000830304" "00017640" "90" "1902" "0" "1902" "0" "c.1902C>G" "r.(?)" "p.(Cys634Trp)" "" "0000830305" "00017640" "70" "2692" "0" "2692" "0" "c.2692G>T" "r.(?)" "p.(Asp898Tyr)" "" "0000830306" "00017640" "90" "2753" "0" "2753" "0" "c.2753T>C" "r.(?)" "p.(Met918Thr)" "" "0000845116" "00017640" "90" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Val292Met)" "" "0000852483" "00017640" "90" "921" "0" "921" "0" "c.921del" "r.(?)" "p.(Glu309Serfs*3)" "" "0000852484" "00017640" "90" "2370" "0" "2370" "0" "c.2370G>T" "r.(?)" "p.(Leu790Phe)" "" "0000852485" "00017640" "90" "2671" "0" "2671" "0" "c.2671T>G" "r.(?)" "p.(Ser891Ala)" "" "0000852486" "00017640" "90" "2753" "0" "2753" "0" "c.2753T>C" "r.(?)" "p.(Met918Thr)" "" "0000852487" "00017640" "90" "2905" "0" "2905" "0" "c.2905C>T" "r.(?)" "p.(Arg969Trp)" "" "0000861903" "00017640" "30" "166" "0" "166" "0" "c.166C>A" "r.(?)" "p.(Leu56Met)" "" "0000861904" "00017640" "30" "1017" "0" "1017" "0" "c.1017G>A" "r.(?)" "p.(Ser339=)" "" "0000861905" "00017640" "30" "1701" "0" "1701" "0" "c.1701C>T" "r.(?)" "p.(Asp567=)" "" "0000861906" "00017640" "50" "1860" "0" "1860" "0" "c.1860C>G" "r.(?)" "p.(Cys620Trp)" "" "0000861907" "00017640" "30" "2944" "0" "2944" "0" "c.2944C>T" "r.(?)" "p.(Arg982Cys)" "" "0000889126" "00017640" "30" "807" "0" "807" "0" "c.807G>A" "r.(?)" "p.(Ala269=)" "" "0000889127" "00017640" "50" "1083" "0" "1083" "0" "c.1083C>A" "r.(?)" "p.(Asn361Lys)" "" "0000889128" "00017640" "30" "1893" "0" "1893" "0" "c.1893C>T" "r.(?)" "p.(Asp631=)" "" "0000889129" "00017640" "30" "2427" "0" "2427" "0" "c.2427C>T" "r.(?)" "p.(Tyr809=)" "" "0000889130" "00017640" "30" "2976" "0" "2976" "0" "c.2976G>A" "r.(?)" "p.(Pro992=)" "" "0000889131" "00017640" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Thr1038Ile)" "" "0000913278" "00017640" "70" "626" "-9" "626" "-9" "c.626-9G>A" "r.(=)" "p.(=)" "" "0000913279" "00017640" "70" "692" "0" "692" "0" "c.692G>A" "r.(?)" "p.(Arg231His)" "" "0000913280" "00017640" "70" "1752" "0" "1752" "0" "c.1752C>G" "r.(?)" "p.(Asp584Glu)" "" "0000913281" "00017640" "10" "2037" "0" "2037" "0" "c.2037C>T" "r.(?)" "p.(Pro679=)" "" "0000913282" "00017640" "30" "2418" "0" "2418" "0" "c.2418C>T" "r.(?)" "p.(Tyr806=)" "" "0000920367" "00017640" "90" "1879" "1" "1879" "1" "c.1879+1G>T" "r.spl" "p.?" "10i" "0000925149" "00017640" "50" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Glu235Lys)" "" "0000925150" "00017640" "30" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Ala373Val)" "" "0000925151" "00017640" "30" "1879" "13" "1879" "13" "c.1879+13C>T" "r.(=)" "p.(=)" "" "0000925152" "00017640" "50" "2372" "0" "2372" "0" "c.2372A>T" "r.(?)" "p.(Tyr791Phe)" "" "0000929676" "00017640" "50" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Ile176Met)" "" "0000929677" "00017640" "30" "2488" "0" "2488" "0" "c.2488G>A" "r.(?)" "p.(Gly830Arg)" "" "0000929678" "00017640" "50" "3059" "0" "3059" "0" "c.3059C>T" "r.(?)" "p.(Ala1020Val)" "" "0000933315" "00017640" "50" "1946" "0" "1946" "0" "c.1946C>T" "r.(?)" "p.(Ser649Leu)" "" "0000949389" "00017640" "70" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Gly93Ser)" "" "0000949390" "00017640" "50" "1522" "20" "1522" "20" "c.1522+20A>T" "r.(=)" "p.(=)" "" "0000949391" "00017640" "90" "1901" "0" "1901" "0" "c.1901G>A" "r.(?)" "p.(Cys634Tyr)" "" "0000949392" "00017640" "90" "2416" "0" "2416" "0" "c.2416T>G" "r.(?)" "p.(Tyr806Asp)" "" "0000949393" "00017640" "90" "2417" "0" "2418" "0" "c.2417_2418insGC" "r.(?)" "p.(Tyr806*)" "" "0000949394" "00017640" "30" "3040" "-20" "3040" "-20" "c.3040-20C>T" "r.(=)" "p.(=)" "" "0000949395" "00017640" "30" "3112" "0" "3112" "0" "c.3112A>G" "r.(?)" "p.(Thr1038Ala)" "" "0000965713" "00017640" "90" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Pro399Leu)" "" "0000965714" "00017640" "30" "1465" "0" "1465" "0" "c.1465G>A" "r.(?)" "p.(Asp489Asn)" "" "0000965715" "00017640" "30" "2331" "0" "2331" "0" "c.2331C>T" "r.(?)" "p.(Asn777=)" "" "0000979029" "00017640" "70" "95" "0" "95" "0" "c.95C>T" "r.(?)" "p.(Ser32Leu)" "" "0000979030" "00017640" "10" "375" "0" "375" "0" "c.375C>A" "r.(?)" "p.(Val125=)" "" "0000979031" "00017640" "30" "785" "0" "785" "0" "c.785T>C" "r.(?)" "p.(Val262Ala)" "" "0000979032" "00017640" "30" "938" "0" "938" "0" "c.938G>A" "r.(?)" "p.(Arg313Gln)" "" "0000979033" "00017640" "50" "1591" "0" "1591" "0" "c.1591T>A" "r.(?)" "p.(Cys531Ser)" "" "0000979034" "00017640" "50" "1894" "0" "1894" "0" "c.1894G>A" "r.(?)" "p.(Glu632Lys)" "" "0000979035" "00017640" "50" "2556" "0" "2556" "0" "c.2556C>G" "r.(?)" "p.(Ile852Met)" "" "0000979036" "00017640" "50" "2657" "0" "2657" "0" "c.2657G>A" "r.(?)" "p.(Arg886Gln)" "" "0000979037" "00017640" "30" "2673" "0" "2673" "0" "c.2673G>A" "r.(?)" "p.(=)" "" "0000979038" "00017640" "30" "3112" "0" "3112" "0" "c.3112A>G" "r.(?)" "p.(Thr1038Ala)" "" "0000979039" "00017640" "50" "3175" "0" "3175" "0" "c.3175A>G" "r.(?)" "p.(Asn1059Asp)" "" "0000987570" "00017640" "90" "2410" "0" "2410" "0" "c.2410G>A" "r.(?)" "p.(Val804Met)" "14" "0000988483" "00017640" "50" "3068" "0" "3068" "0" "c.3068C>T" "r.(?)" "p.(Pro1023Leu)" "" "0000998284" "00017640" "30" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(=)" "" "0000998285" "00017640" "50" "1083" "0" "1083" "0" "c.1083C>A" "r.(?)" "p.(Asn361Lys)" "" "0000998286" "00017640" "30" "1182" "0" "1182" "0" "c.1182C>T" "r.(?)" "p.(=)" "" "0000998287" "00017640" "10" "1264" "-5" "1264" "-5" "c.1264-5C>T" "r.spl?" "p.?" "" "0000998288" "00017640" "50" "1985" "0" "1985" "0" "c.1985A>G" "r.(?)" "p.(Lys662Arg)" "" "0000998289" "00017640" "30" "2030" "0" "2030" "0" "c.2030G>A" "r.(?)" "p.(Arg677Gln)" "" "0000998290" "00017640" "30" "2070" "0" "2070" "0" "c.2070C>T" "r.(?)" "p.(=)" "" "0000998291" "00017640" "50" "2081" "0" "2081" "0" "c.2081G>A" "r.(?)" "p.(Arg694Gln)" "" "0000998292" "00017640" "50" "2257" "0" "2257" "0" "c.2257A>C" "r.(?)" "p.(Thr753Pro)" "" "0000998293" "00017640" "50" "2464" "0" "2464" "0" "c.2464G>A" "r.(?)" "p.(Val822Met)" "" "0000998294" "00017640" "30" "3059" "0" "3059" "0" "c.3059C>T" "r.(?)" "p.(Ala1020Val)" "" "0000998295" "00017640" "50" "3286" "0" "3286" "0" "c.3286T>C" "r.(?)" "p.(Tyr1096His)" "" "0001014617" "00017640" "30" "405" "0" "405" "0" "c.405C>T" "r.(?)" "p.(=)" "" "0001014618" "00017640" "30" "468" "0" "468" "0" "c.468C>T" "r.(?)" "p.(=)" "" "0001014619" "00017640" "30" "1879" "17" "1879" "17" "c.1879+17C>T" "r.(=)" "p.(=)" "" "0001014620" "00017640" "30" "2137" "-20" "2137" "-20" "c.2137-20T>G" "r.(=)" "p.(=)" "" "0001014621" "00017640" "30" "2997" "0" "2997" "0" "c.2997G>A" "r.(?)" "p.(=)" "" "0001021299" "00017640" "90" "2671" "0" "2671" "0" "c.2671T>G" "r.(?)" "p.(Ser891Ala)" "" "0001025740" "00017640" "30" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Arg67His)" "" "0001025741" "00017640" "50" "1894" "0" "1894" "0" "c.1894G>A" "r.(?)" "p.(Glu632Lys)" "" "0001025742" "00017640" "70" "1947" "0" "1947" "0" "c.1947G>A" "r.(?)" "p.(=)" "" "0001025743" "00017640" "30" "2037" "0" "2037" "0" "c.2037C>T" "r.(?)" "p.(Pro679=)" "" "0001025744" "00017640" "30" "3102" "0" "3102" "0" "c.3102A>G" "r.(?)" "p.(=)" "" "0001030025" "00017640" "50" "1861" "0" "1861" "0" "c.1861G>A" "r.(?)" "p.(Glu621Lys)" "" "0001037897" "00017640" "50" "196" "0" "196" "0" "c.196T>A" "r.(?)" "p.(Phe66Ile)" "" "0001037898" "00017640" "90" "1832" "0" "1833" "0" "c.1832_1833delinsAT" "r.(?)" "p.(Cys611Tyr)" "" "0001037899" "00017640" "50" "2371" "0" "2371" "0" "c.2371T>A" "r.(?)" "p.(Tyr791Asn)" "" "0001037900" "00017640" "90" "2410" "0" "2410" "0" "c.2410G>A" "r.(?)" "p.(Val804Met)" "" "0001037901" "00017640" "50" "2531" "0" "2531" "0" "c.2531G>T" "r.(?)" "p.(Arg844Leu)" "" "0001045033" "00017640" "50" "1878" "0" "1878" "0" "c.1878G>A" "r.(?)" "p.(Gln626=)" "" "0001045578" "00017640" "90" "1372" "0" "1372" "0" "c.1372dup" "r.(1372dup)" "p.(Ala458GlyfsTer12)" "" "0001046236" "00017640" "50" "47" "0" "47" "0" "c.47T>C" "r.(?)" "p.(Leu16Pro)" "" "0001046237" "00017640" "30" "2673" "0" "2673" "0" "c.2673G>A" "r.(?)" "p.(=)" "" "0001047201" "00017640" "10" "2944" "0" "2944" "0" "c.2944C>T" "r.(?)" "p.(Arg982Cys)" "" "0001047261" "00017640" "90" "2671" "0" "2671" "0" "c.2671T>G" "r.(?)" "p.(Ser891Ala)" "" "0001047495" "00017640" "30" "2372" "0" "2372" "0" "c.2372A>T" "r.(?)" "p.(Tyr791Phe)" "" "0001047574" "00017640" "50" "3112" "0" "3112" "0" "c.3112A>G" "r.(?)" "p.(Thr1038Ala)" "" "0001047987" "00017640" "50" "2531" "0" "2531" "0" "c.2531G>A" "r.(?)" "p.(Arg844Gln)" "" "0001048005" "00017640" "10" "2801" "72" "2801" "72" "c.2801+72G>A" "r.(?)" "p.(?)" "" "0001048032" "00017640" "50" "2846" "0" "2846" "0" "c.2846G>A" "r.(?)" "p.(Gly949Glu)" "" "0001048037" "00017640" "90" "2370" "0" "2370" "0" "c.2370G>T" "r.(?)" "p.(Leu790Phe)" "" "0001048435" "00017640" "50" "2931" "0" "2931" "0" "c.2931C>G" "r.(?)" "p.(Ser977Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 86 "{{screeningid}}" "{{variantid}}" "0000036729" "0000063854" "0000036730" "0000063855" "0000036731" "0000063856" "0000036732" "0000063857" "0000036733" "0000063858" "0000036734" "0000063859" "0000036735" "0000063860" "0000036736" "0000063861" "0000036737" "0000063862" "0000036738" "0000063863" "0000036739" "0000063864" "0000036740" "0000063865" "0000036741" "0000063866" "0000036742" "0000063867" "0000036743" "0000063868" "0000036744" "0000063869" "0000036745" "0000063870" "0000036746" "0000063871" "0000036747" "0000063872" "0000047419" "0000076110" "0000047982" "0000076755" "0000047983" "0000076758" "0000047984" "0000076759" "0000047985" "0000076762" "0000047997" "0000076784" "0000081632" "0000132304" "0000209672" "0000439887" "0000211064" "0000442482" "0000223902" "0000455672" "0000223903" "0000455673" "0000223904" "0000455674" "0000223905" "0000455675" "0000223906" "0000455676" "0000223907" "0000455677" "0000223908" "0000455678" "0000223909" "0000455679" "0000223910" "0000455680" "0000223911" "0000455681" "0000223912" "0000455682" "0000223913" "0000455683" "0000223914" "0000455684" "0000223915" "0000455685" "0000223916" "0000455686" "0000223917" "0000455687" "0000223918" "0000455688" "0000223919" "0000455689" "0000223920" "0000455690" "0000223921" "0000455691" "0000223922" "0000455692" "0000223923" "0000455693" "0000223924" "0000455694" "0000223925" "0000455695" "0000223926" "0000455696" "0000223927" "0000455697" "0000291207" "0000647896" "0000291208" "0000647897" "0000291209" "0000647898" "0000291210" "0000647899" "0000291211" "0000647900" "0000291212" "0000647901" "0000296765" "0000653473" "0000305371" "0000669059" "0000308229" "0000675117" "0000309875" "0000684777" "0000317330" "0000699854" "0000317332" "0000699939" "0000317362" "0000699886" "0000317367" "0000699891" "0000376403" "0000788001" "0000398088" "0000830296" "0000398089" "0000830297" "0000398090" "0000830298" "0000398091" "0000830299" "0000398092" "0000830300" "0000398093" "0000830301" "0000398094" "0000830302" "0000398095" "0000830303" "0000398096" "0000830304" "0000398097" "0000830305" "0000398098" "0000830306" "0000408239" "0000845116" "0000434575" "0000920367" "0000437879" "0000933315" "0000453062" "0000987570" "0000461928" "0001021299" "0000467679" "0001045578"