### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IGF1R) # 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}}" "IGF1R" "insulin-like growth factor 1 receptor" "15" "q26.3" "unknown" "NG_009492.1" "UD_132118790655" "" "http://www.LOVD.nl/IGF1R" "Growth Genetics Consortium " "1" "5465" "3480" "147370" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden (Nederland) with the help of the Growth Genetics Consortium." "" "g" "http://databases.lovd.nl/shared/refseq/IGF1R_codingDNA.html" "1" "" "A Growth Genetics Consortium gene variant database\r\n
\r\n
\r\n" "-1" "" "-1" "00001" "2008-06-01 00:00:00" "00006" "2017-03-10 17:24:13" "00000" "2023-01-11 15:44:22" ## 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}}" "00009867" "IGF1R" "insulin-like growth factor 1 receptor" "001" "NM_000875.3" "" "NP_000866.1" "" "" "" "-50" "11192" "4104" "99192761" "99507759" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00232" "SRS;RSS" "Silver-Russell syndrome (SRS, Russell-Silver syndrome (RSS))" "AD" "180860" "" "" "" "00006" "2013-10-09 19:30:21" "00006" "2021-12-10 21:51:32" "00808" "-" "Growth retardation with deafness and mental retardation due to IGF1 deficiency" "AR" "608747" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02070" "SHORT" "SHORT syndrome (SHORT)" "AD" "269880" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02075" "IGF1RES" "insulin-like growth factor 1, resistance to" "AD;AR" "270450" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04184" "stature, short" "stature, short" "" "" "" "" "" "00006" "2015-02-09 15:44:22" "00006" "2015-02-09 15:45:17" "05611" "NDD" "neurodevelopmental delay (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2019-08-07 19:22:28" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "IGF1R" "02075" ## Individuals ## Do not remove or alter this header ## ## Count = 31 "{{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}}" "00046337" "" "" "00047816" "1" "" "00672" "{PMID:Prontera 2015:26252249}, {DOI:Prontera 2015:10.1002/humu.22853}" "5-generation family, 1 affected (SHORT syndrome), heterozygous carriers have short stature" "F" "yes" "Italy" "" "0" "" "" "" "" "00047816" "" "" "" "22" "" "00006" "{PMID:Prontera 2015:26252249}, {DOI:Prontera 2015:10.1002/humu.22853}" "5-generation family, 21 affected (16F, 5M)" "" "no" "Italy" "" "0" "" "" "" "" "00079759" "" "" "" "1" "" "01720" "{PMID:Abuzzahab 2003:14657428}, {PMID:Raile 2006:16569742}" "older brother of 16569742.c2, son of 16569742.c3" "M" "no" "(Germany)" "" "0" "" "" "" "" "00079760" "" "" "" "1" "" "01720" "{PMID:Raile 2006:16569742}" "older brother of 14657428.p2, son of 16569742.c3; broad, round nasal tip, short broad fingers" "M" "no" "(Germany)" "" "0" "" "" "" "" "00079761" "" "" "" "1" "" "01720" "{PMID16569742:Raile 2006}" "mother of 14657428.p2 and 16569742.c2" "F" "" "(Germany)" "" "0" "" "" "" "" "00079762" "" "" "" "1" "" "01720" "" "" "F" "" "Netherlands" "" "0" "" "W.A. Ester et al, table 1 shows the changes before and after GH therapy" "" "" "00079763" "" "" "" "1" "" "01720" "" "" "M" "" "(Netherlands)" "" "0" "" "" "" "" "00079764" "" "" "" "1" "" "01720" "{PMID:Hwa 2005:15827093}" "affected mother (15928254.c2) diagnosed with IUGR and short stature" "F" "no" "Japan" "" "0" "" "" "Japanese" "" "00079766" "" "" "" "1" "" "01720" "{PMID:Inagaki 2007:17264177}" "" "F" "" "Russian Federation" "" "0" "" "" "Russian" "" "00079769" "" "" "" "1" "" "01720" "{PMID:Fang 2009:19240156}" "" "M" "no" "(United States)" "" "0" "" "" "white" "" "00079771" "" "" "" "1" "" "01720" "{PMID:Walenkamp 2008:18349070}" "two siblings of patient had a normal height" "F" "no" "" "" "0" "" "" "" "" "00079772" "" "" "" "1" "" "01720" "{PMID:Walenkamp 2006:16757531}" "mother of t16757531.p2" "F" "no" "(Netherlands)" "" "0" "" "" "" "" "00079773" "" "" "" "1" "" "01720" "{PMID:Walenkamp 2006:16757531}" "daugther of 16757531.p1, father Hindoestani descent" "F" "" "(Netherlands)" "" "0" "" "" "Hindoestani" "" "00079781" "" "" "" "1" "" "01720" "{PMID:Abuzzahab 2003:14657428}" "" "F" "no" "(United States)" "" "0" "" "" "-" "" "00079803" "" "" "" "13" "" "00006" "{PMID:Hwa 2005:15827093}" "" "F" "" "Japan" "" "0" "" "" "" "" "00079804" "" "" "" "2" "" "00006" "{PMID:Kawashima 2005:15928254}" "" "?" "" "Japan" "" "0" "" "" "" "" "00079805" "" "" "" "1" "" "00006" "{PMID:Kawashima 2005:15928254}" "" "?" "no" "Japan" "" "0" "" "" "" "" "00079806" "" "" "" "15" "" "00006" "{PMID:Hwa 2005:15827093}" "" "" "" "Japan" "" "0" "" "" "" "" "00079807" "" "" "" "2" "" "00006" "{PMID:Hwa 2005:15827093}" "" "" "" "Japan" "" "0" "" "" "" "" "00079808" "" "" "" "16" "" "00006" "{PMID:Hwa 2005:15827093}" "" "" "" "Japan" "" "0" "" "" "" "" "00079809" "" "" "" "15" "" "00006" "{PMID:Hwa 2005:15827093}" "" "" "" "Japan" "" "0" "" "" "" "" "00079810" "" "" "" "18" "" "00006" "{PMID:Hwa 2005:15827093}" "" "" "" "Japan" "" "0" "" "" "" "" "00079869" "" "" "" "2" "" "01721" "{PMID:Wallborn 2010:20357178}" "" "F" "" "Germany" "" "0" "" "" "" "" "00080116" "" "" "" "1" "" "01594" "{PMID:Spengler 2012:22683032}, for EUCID-SRS consortium" "" "F" "" "" "" "0" "" "" "" "22683032-PatSR6882" "00080117" "" "" "" "1" "" "01594" "{PMID:Bruce 2009:19752157}, for EUCID-SRS consortium" "" "F" "" "" "" "0" "" "" "" "19752157-PatSRS-ue-6" "00269866" "" "" "" "4" "" "00006" "{PMID:Mohn 2011:21811077}" "2-generation family, 4 affected (3F, M), proband, sister, 2 maternal aunts (father deceaxed)" "F;M" "" "Italy" "" "0" "" "" "" "Fam" "00291349" "" "" "" "195" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291350" "" "" "" "150" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304486" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304487" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00418712" "" "" "" "1" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Fam14" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 32 "{{individualid}}" "{{diseaseid}}" "00046337" "02070" "00047816" "04184" "00079759" "02075" "00079760" "02075" "00079761" "02075" "00079762" "00808" "00079763" "00198" "00079764" "02075" "00079766" "00808" "00079769" "02075" "00079771" "00198" "00079772" "02075" "00079773" "02075" "00079781" "02075" "00079803" "00000" "00079804" "00198" "00079805" "00198" "00079806" "00000" "00079807" "00000" "00079808" "00000" "00079809" "00000" "00079810" "00000" "00079869" "02075" "00080116" "00198" "00080116" "00232" "00080117" "00232" "00269866" "00198" "00291349" "00198" "00291350" "00198" "00304486" "00198" "00304487" "00198" "00418712" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00232, 00808, 02070, 02075, 04184, 05611 ## Count = 29 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Head/Microcephaly}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Feeding/Problems}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Face/Shape}}" "{{Phenotype/Intrauterine_growth_retardation/HPO/0001511}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Growth/Retardation/Postnatal/HPO_0008897}}" "{{Phenotype/Asymmetry/Body}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000034686" "04184" "00047816" "00006" "Familial, autosomal dominant" "" "see paper; high IGFI levels, short stature, type 2 diabetes (5 individuals), ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034687" "02070" "00046337" "00672" "Familial, autosomal recessive" "" "see paper; SHORT syndrome, high IGFI levels, CNS defects, developmental delay, pronounced progeroid appearance, ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059470" "02075" "00079759" "01720" "Familial, autosomal recessive" "" "insulin-like growth factor 1, resistance to; neurology normal; retardation of speech, primary microcephaly, bilateral clinodactyly; pectus excavatum; Broad nasal bridge,thin u.lip,long & smooth philtrum,broad l.lip,bushy eyebrows, receding hairline; Clinodactyly, pectus excavatum, short broad fingers, short distal phalanges" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059471" "02075" "00079760" "01720" "Familial, autosomal recessive" "" "insulin-like growth factor 1, resistance to; Growth pattern same as older brother; Broad nasal bridge, long&smooth philtrum, thin upper lip, inverted fleshy lower lip; Short distal falanges, bilateral clinodactyly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059472" "02075" "00079761" "01720" "Unknown" "" "insulin-like growth factor 1, resistance to; Primary microcephaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059473" "00808" "00079762" "01720" "Isolated (sporadic)" "" "insulin-like growth factor I deficiency; neurology normal; Bilateral hearing loss, hyperlaxity of joints; Dimples in lumbar region; Triangular face, low placed posterior rotated ears, medial flaring eyebrows; Hypertelorsim, bilateral clinodactyly; delayed dentition and hypocanthal folds" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059474" "00198" "00079763" "01720" "Isolated (sporadic)" "" "delayed growth; Has hearing and speech difficulties; Thin upper lip; Hypertelorism, upward slant, extra nipple; rotation deformity tibial bones, proximal implanted thumbs, broad feet" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059475" "02075" "00079764" "01720" "Familial, autosomal recessive" "" "insulin-like growth factor 1, resistance to; Intelligence quotient; IUGR, at 2y noticed to have growth failure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059477" "00808" "00079766" "01720" "Familial" "" "insulin-like growth factor I deficiency; Triangular shape of face; Small hands and feet; younger brother birth length 50cm, birth weight 3000g, height 86cm (-1.2) at 2.5 y; aunt height 128cm (-5.7), menarche at 13y; several maternal siblings died in neonatal period due to unknown causes" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059480" "02075" "00079769" "01720" "Familial, autosomal recessive" "" "11.3y, GH therapy (0.7mg/kg/wk), height velocity 7.2cm/yr; 7.5m GH therapy Tanner II scrotal hair; IQ age-appropriate school level; affected mother and maternal half brother (15y, 166.4cm -0.5SDS) at 15y, sister of patient 9.5y, 123.2cm, -1.94 SDS;i nsulin-like growth factor 1, resistance to; neurology normal; Bifid Uvula, microcephalic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059482" "00198" "00079771" "01720" "Familial, autosomal recessive" "" "regular menstrual cycle, speech development slow; no skeletal abnormalities; abdominal fat distributed in a lobular patternt; high pitched voice, extreme myopia, motor development normal, sit 10m, w 17m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059483" "02075" "00079772" "01720" "Familial, autosomal recessive" "" "insulin-like growth factor 1, resistance to; Postnatally severe failure to thrive; no facial dysmorphism; 1975 (35y) Arginine stimulation test with maximal GH respons of 62mU/L; needed postnatally nasogastric tube feeding (first year of life), due to poor appetite; pregnancy complicated by Hyperemesis Gravidarum; IQ above average" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059484" "02075" "00079773" "01720" "Familial" "" "insulin-like growth factor 1, resistance to; Extremly poor appetite; Brachycephaly; Hypotelorism, triangular face, small mouth, thin lips, prominent ears; placental weight 290g, -2.4SDS; pregnancy complicated by Hyperemesis Gravidarum, Oligohydramnion; at 10m Percutaneous Gastrostoma positioned, failure to thrive persisted; psychomotor development showed 3m motor delay (Bayley test); 14m Arginine stimulation test" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059492" "02075" "00079781" "01720" "Familial, autosomal recessive" "" "insulin-like growth factor 1, resistance to; Psychomotor agitation; nonverbal learning disorder, social phobias; acquisition of gross and fine motor skills mildly delayed; first tooth erupted at 14m; verbal IQ 134, performance IQ 89; rapid, pressured speech, anxious affect; obsessive tendencies, excessive fantasy role playing, social phobias; rate acquisition secudary sexual characteristics normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059514" "00000" "00079803" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059515" "00000" "00079804" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059516" "00000" "00079805" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059517" "00000" "00079806" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059518" "00000" "00079807" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059519" "00000" "00079808" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059520" "00000" "00079809" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059521" "00000" "00079810" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059580" "02075" "00079869" "01721" "Unknown" "" "insulin-like growth factor 1, resistance to; developmental delay (Kaufmann Assessment for Children -2.0 SDS); no skeletal abnormalities; no facial dysmorphism;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059581" "00198" "00079805" "00006" "Unknown" "" "unexplained IUGR; birth\r\nweight (<-1.5 SD), short stature (<-2.0 SD)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059582" "00198" "00079804" "00006" "Unknown" "" "unexplained IUGR; birthweight (<-1.5 SD) and short stature (<-2.0 SD)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059693" "00232" "00080117" "01594" "Unknown" "" "" "" "macrocephaly congenital" "" "feeding problems" "" "" "" "prominent forehead" "small" "" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "molecular SRS (Netchine Harbison-Score 5/6)" "SRS" "" "0000082740" "00232" "00080116" "01594" "Unknown" "" "" "" "no macrocephaly congenital" "" "no feeding problems" "" "" "" "no prominent forehead" "not small" "" "" "" "" "growth retardation (postnatal)" "no asymmetric growth" "unlikely SRS (Netchine Harbison-Score 1/6)" "SRS-like (Bartholdi 21,4%)" "" "0000207660" "00198" "00269866" "00006" "Familial, autosomal dominant" "" "see paper; ..., short stature, impaired\r\ncarbohydrate homeostasis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "short stature" "" "0000310011" "05611" "00418712" "00006" "Unknown" "" "speech delay; motor delay; intellectual disability; no autism spectrum disorder; no behavioral problems; no facial dysmorphism; enuresis; microcephaly, scoliosis, reflux" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 31 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000046442" "00046337" "1" "00672" "00672" "2015-07-07 17:10:25" "00006" "2015-08-27 23:02:31" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000047933" "00047816" "1" "00006" "00006" "2015-08-27 22:39:15" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000079833" "00079759" "1" "01720" "01720" "2009-06-16 15:37:08" "00002" "2009-07-16 21:09:41" "PCRdig;RT-PCR;SEQ" "RNA;DNA" "" "" "0000079834" "00079760" "1" "01720" "01720" "2009-06-17 16:26:57" "00002" "2009-07-16 21:10:11" "SEQ;Western" "DNA" "" "" "0000079835" "00079761" "1" "01720" "01720" "2009-06-17 16:41:17" "00002" "2009-07-16 21:14:11" "Western" "DNA" "" "" "0000079836" "00079762" "1" "01720" "01720" "2009-06-19 12:21:41" "00002" "2009-07-17 17:07:09" "MLPA" "DNA" "" "" "0000079837" "00079763" "1" "01720" "01720" "2009-06-19 12:47:21" "00002" "2009-07-17 17:12:17" "arrayCNV;MLPA" "DNA" "" "" "0000079838" "00079764" "1" "01720" "01720" "2009-06-23 13:49:38" "00002" "2009-07-16 23:30:43" "PCRdig;SEQ;Western" "DNA" "" "" "0000079840" "00079766" "1" "01720" "01720" "2009-06-25 20:12:34" "00002" "2009-07-17 16:39:29" "PCRdig;RT-PCR;SEQ;Western" "RNA;DNA" "" "" "0000079843" "00079769" "1" "01720" "01720" "2009-06-30 10:35:23" "00002" "2009-07-17 17:05:46" "RT-PCR;SEQ" "RNA;DNA" "" "" "0000079845" "00079771" "1" "01720" "01720" "2009-07-02 10:42:28" "00002" "2009-07-16 20:10:02" "arrayCGH;MLPA;Western" "RNA;DNA" "" "" "0000079846" "00079772" "1" "01720" "01720" "2009-07-02 15:16:04" "00002" "2009-07-17 16:46:24" "RT-PCR;SEQ" "RNA;DNA" "" "" "0000079847" "00079773" "1" "01720" "01720" "2009-07-02 16:07:06" "00002" "2009-07-17 16:49:59" "RT-PCR;SEQ" "RNA;DNA" "" "" "0000079855" "00079781" "1" "01720" "01720" "2009-07-10 10:22:59" "00002" "2009-07-16 20:55:17" "SEQ;SSCA" "DNA" "" "" "0000079877" "00079803" "1" "00006" "00006" "2009-07-17 17:47:24" "" "" "SEQ" "DNA" "" "" "0000079878" "00079804" "1" "00006" "00006" "2009-07-17 17:47:24" "" "" "SEQ" "DNA" "" "" "0000079879" "00079805" "1" "00006" "00006" "2009-07-17 17:47:24" "" "" "SEQ" "DNA" "" "" "0000079880" "00079806" "1" "00006" "00006" "2009-07-17 17:47:24" "" "" "SEQ" "DNA" "" "" "0000079881" "00079807" "1" "00006" "00006" "2009-07-17 17:47:24" "" "" "SEQ" "DNA" "" "" "0000079882" "00079808" "1" "00006" "00006" "2009-07-17 17:47:24" "" "" "SEQ" "DNA" "" "" "0000079883" "00079809" "1" "00006" "00006" "2009-07-17 17:47:24" "" "" "SEQ" "DNA" "" "" "0000079884" "00079810" "1" "00006" "00006" "2009-07-17 17:47:24" "" "" "SEQ" "DNA" "" "" "0000079943" "00079869" "1" "01721" "01721" "2011-02-23 17:21:14" "" "" "DHPLC;SEQ" "DNA" "" "" "0000080209" "00080116" "1" "01594" "00008" "2016-09-01 17:30:25" "" "" "arrayCNV; STR; FISH" "DNA" "" "" "0000080210" "00080117" "1" "01594" "00008" "2016-09-01 17:30:25" "" "" "arrayCNV" "DNA" "" "" "0000271019" "00269866" "1" "00006" "00006" "2019-12-08 14:22:29" "" "" "SEQ" "DNA" "" "" "0000292517" "00291349" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292518" "00291350" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305615" "00304486" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305616" "00304487" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000420007" "00418712" "1" "00006" "00006" "2022-10-04 17:07:48" "" "" "SEQ;SEQ-NG" "DNA" "" "panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{geneid}}" "0000046442" "IGF1R" "0000047933" "IGF1R" "0000079833" "IGF1R" "0000079834" "IGF1R" "0000079835" "IGF1R" "0000079836" "IGF1R" "0000079837" "IGF1R" "0000079838" "IGF1R" "0000079840" "IGF1R" "0000079843" "IGF1R" "0000079845" "IGF1R" "0000079846" "IGF1R" "0000079847" "IGF1R" "0000079855" "IGF1R" "0000079877" "IGF1R" "0000079878" "IGF1R" "0000079879" "IGF1R" "0000079880" "IGF1R" "0000079881" "IGF1R" "0000079882" "IGF1R" "0000079883" "IGF1R" "0000079884" "IGF1R" "0000079943" "IGF1R" "0000271019" "IGF1R" ## 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 = 258 "{{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}}" "0000074016" "3" "70" "15" "99460105" "99460105" "subst" "0" "00672" "IGF1R_000025" "g.99460105G>T" "" "{PMID:Prontera 2015:26252249}, {DOI:Prontera 2015:10.1002/humu.22853}" "" "" "" "Germline" "yes" "" "0" "" "" "g.98916876G>T" "" "likely pathogenic" "" "0000076670" "1" "70" "15" "99460105" "99460105" "subst" "0" "00006" "IGF1R_000025" "g.99460105G>T" "" "{PMID:Prontera 2015:26252249}, {DOI:Prontera 2015:10.1002/humu.22853}" "" "" "" "Germline" "yes" "" "0" "" "" "g.98916876G>T" "" "likely pathogenic" "" "0000128616" "21" "90" "15" "99250961" "99250961" "subst" "0" "01720" "IGF1R_000004" "g.99250961C>T" "3/184" "{PMID:Abuzzahab 2003:14657428}, {PMID:Raile 2006:16569742}, {OMIM147370:0003}" "DdeI+" "Arg59stop" "number IGF-I receptors per fibroblast low compared to controls" "Germline" "" "" "0" "" "" "g.98707732C>T" "" "pathogenic" "" "0000128617" "21" "90" "15" "99250961" "99250961" "subst" "0" "01720" "IGF1R_000004" "g.99250961C>T" "" "{PMID:Raile 2006:16569742}, {OMIM147370:0003}" "DdeI" "Arg59Ter" "heterozygous deactivation of one IGF1R allele" "Germline" "" "" "0" "" "" "g.98707732C>T" "" "pathogenic" "" "0000128618" "0" "90" "15" "99250961" "99250961" "subst" "0" "01720" "IGF1R_000004" "g.99250961C>T" "" "{PMID:Raile 2006:16569742}, {OMIM147370:0003}" "DdeI" "Arg59Ter" "heterozygous deactivation of one IGF1R allele" "Germline" "" "" "0" "" "" "g.98707732C>T" "" "pathogenic" "" "0000128619" "0" "70" "15" "0" "0" "" "0" "01720" "IGF1R_000000" "g.?" "" "" "-" "" "deletion exon 1-21 at 15q26.2; de novo, in patient" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000128620" "0" "70" "15" "0" "0" "" "0" "01720" "IGF1R_000000" "g.?" "1/214" "" "-" "" "deletion exon 3-21 at 15q26.3; de novo, in patient" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000128621" "21" "70" "15" "99465391" "99465391" "subst" "0.0000121826" "01720" "IGF1R_000011" "g.99465391G>A" "1/74" "{PMID:Kawashima 2005:15928254}, {OMIM147370:0004}" "AciI-" "G>A, Arg709Gln" "variant changes cleavage site IGF1R pro-receptor" "Germline" "" "" "0" "" "" "g.98922162G>A" "" "likely pathogenic" "" "0000128623" "20" "70" "15" "99454613" "99454613" "subst" "0.00159587" "01720" "IGF1R_000003" "g.99454613G>A" "" "{PMID:Inagaki 2007:17264177}, {OMIM147370:0005}" "KpnI" "1577G>A, R481Q" "" "Germline" "" "" "0" "" "" "g.98911384G>A" "" "likely pathogenic" "" "0000128626" "10" "70" "15" "99482480" "99482498" "dup" "0" "01720" "IGF1R_000013" "g.99482480_99482498dup" "" "{PMID:Fang 2009:19240156}" "-" "" "" "Germline" "" "" "0" "" "" "g.98939251_98939269dup" "" "likely pathogenic" "" "0000128628" "0" "70" "15" "0" "0" "" "0" "01720" "IGF1R_000015" "g.?" "1/10" "{PMID:Walenkamp 2008:18349070}" "-" "c.?" "FISH and arrayCGH reveal 5.2 Mb deletion 15q26.2-qter, starting at SPATA8 spanning 34 genes; RNA expression reduced; MLPA tested exons 2, 8 and 18" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000128629" "0" "70" "15" "99478244" "99478244" "subst" "0" "01720" "IGF1R_000014" "g.99478244G>A" "?/4" "{PMID:Walenkamp 2006:16757531}" "-" "p.E1050K" "" "Germline" "" "" "0" "" "" "g.98935015G>A" "" "likely pathogenic" "" "0000128630" "21" "70" "15" "99478244" "99478244" "subst" "0" "01720" "IGF1R_000014" "g.99478244G>A" "?/4" "{PMID:Walenkamp 2006:16757531}" "-" "p.E1050K" "" "Germline" "" "" "0" "" "" "g.98935015G>A" "" "likely pathogenic" "" "0000128638" "11" "70" "15" "99251109" "99251109" "subst" "0" "01720" "IGF1R_000021" "g.99251109G>A" "1/176" "{PMID:Abuzzahab 2003:14657428}, {OMIM147370:0001}" "-" "G>A, R108Q" "" "Germline" "" "" "0" "" "" "g.98707880G>A" "" "likely pathogenic" "" "0000128660" "0" "30" "15" "99465473" "99465473" "subst" "0.0960386" "00006" "IGF1R_000005" "g.99465473C>T" "13/48" "{PMID:Kawashima 2005:15928254}" "" "C>T, Thr736Thr" "2 homozygous cases" "Germline" "" "" "0" "" "" "g.98922244C>T" "" "likely benign" "" "0000128661" "3" "30" "15" "0" "0" "" "0" "00006" "IGF1R_000006" "g.?" "1/24 cases" "{PMID:Kawashima 2005:15928254}" "" "977_980delCTTT" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000128662" "1" "30" "15" "99434612" "99434612" "subst" "0.0000204594" "00006" "IGF1R_000007" "g.99434612C>T" "1/48 chromosomes" "{PMID:Kawashima 2005:15928254}" "" "C>T Pro204Pro" "" "Germline" "" "" "0" "" "" "g.98891383C>T" "" "likely benign" "" "0000128663" "0" "30" "15" "99478225" "99478225" "subst" "0.396872" "00006" "IGF1R_000008" "g.99478225G>A" "15/48" "{PMID:Kawashima 2005:15928254}" "" "G>A Gly1013Gly" "Gly1013 should be Glu1013" "Germline" "" "rs2229765" "0" "" "" "g.98934996G>A" "" "likely benign" "" "0000128664" "0" "30" "15" "99500605" "99500605" "subst" "0.0592408" "00006" "IGF1R_000009" "g.99500605C>T" "2/48" "{PMID:Kawashima 2005:15928254}" "" "C>T Thr1316Thr" "Thr1316 should be Tyr1316" "Germline" "" "rs17847203" "0" "" "" "g.98957376C>T" "" "likely benign" "" "0000128665" "0" "30" "15" "99472734" "99472734" "subst" "0" "00006" "IGF1R_000012" "g.99472734C>T" "16/48" "{PMID:Kawashima 2005:15928254}" "" "IVS13-53T>C" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs4486868" "0" "" "" "g.98929505C>T" "" "likely benign" "" "0000128666" "0" "30" "15" "99473606" "99473606" "subst" "0" "00006" "IGF1R_000002" "g.99473606A>G" "15/48" "{PMID:Kawashima 2005:15928254}" "" "IVS15+72A>G" "3 homozygous cases" "Germline" "" "rs45467992" "0" "" "" "g.98930377A>G" "" "likely benign" "" "0000128667" "0" "30" "15" "99500256" "99500256" "subst" "0.353681" "00006" "IGF1R_000001" "g.99500256G>A" "18/48" "{PMID:Kawashima 2005:15928254}" "" "IVS20-34G>A" "3 homozygous cases" "Germline" "" "rs2593053" "0" "" "" "g.98957027G>A" "" "likely benign" "" "0000128726" "21" "90" "15" "99459250" "99459250" "subst" "0" "01721" "IGF1R_000022" "g.99459250T>A" "" "{PMID:Wallborn 2010:20357178}" "" "V599E" "functional analysis variant by expression cloning" "Germline" "" "" "0" "" "" "g.98916021T>A" "" "pathogenic" "" "0000128773" "21" "70" "15" "99251131" "99251131" "subst" "0" "01720" "IGF1R_000020" "g.99251131A>C" "1/176" "{PMID:Abuzzahab 2003:14657428}, {OMIM147370:0002}" "-" "A>C, K115N" "" "Germline" "" "" "0" "" "" "g.98707902A>C" "" "likely pathogenic" "" "0000129158" "0" "50" "15" "0" "0" "" "0" "01594" "IGF1R_000026" "g.(89100001_97043375)_(102405124_qter)del" "" "{PMID:Spengler 2012:22683032}, for EUCID-SRS consortium" "" "" "deletion affecting 26 RefSeq genes incl. IGF1R" "De novo" "" "" "0" "normal methylation H19/IGF2:IG-DMR, KCNQ1OT1:TSS-DMR" "arr[hg19] 15q26(97,043,375-102,405,124)x1 dn" "" "" "VUS" "" "0000129159" "0" "50" "15" "0" "0" "" "0" "01594" "IGF1R_000027" "g.(98500001_99203445)_(101798740_qter)del" "" "{PMID:Bruce 2009:19752157}, for EUCID-SRS consortium" "" "" "deletion affecting IGF1R" "De novo" "" "" "0" "normal methylation H19/IGF2:IG-DMR, KCNQ1OT1:TSS-DMR" "arr[hg19] 15q26.3(99,203,445-101,798,740 )x1 dn" "" "" "VUS" "" "0000253889" "0" "10" "15" "99467934" "99467934" "subst" "0.342965" "01943" "IGF1R_000045" "g.99467934A>C" "" "" "" "IGF1R(NM_000875.4):c.2782+21A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98924705A>C" "" "benign" "" "0000255932" "0" "50" "15" "99459988" "99459988" "subst" "0" "01943" "IGF1R_000040" "g.99459988A>T" "" "" "" "IGF1R(NM_000875.4):c.2084A>T (p.E695V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98916759A>T" "" "VUS" "" "0000256119" "0" "50" "15" "99467220" "99467220" "subst" "0" "01943" "IGF1R_000042" "g.99467220A>G" "" "" "" "IGF1R(NM_000875.3):c.2601A>G (p.(Ile867Met)), IGF1R(NM_000875.4):c.2601A>G (p.I867M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98923991A>G" "" "VUS" "" "0000289484" "0" "10" "15" "99440161" "99440161" "subst" "0.00213856" "01943" "IGF1R_000031" "g.99440161C>T" "" "" "" "IGF1R(NM_000875.4):c.1102+27C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98896932C>T" "" "benign" "" "0000289485" "0" "30" "15" "99442797" "99442797" "subst" "0.000617219" "01943" "IGF1R_000032" "g.99442797C>T" "" "" "" "IGF1R(NM_000875.3):c.1194C>T (p.(Ser398=)), IGF1R(NM_000875.4):c.1194C>T (p.S398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98899568C>T" "" "likely benign" "" "0000289486" "0" "10" "15" "99452143" "99452143" "subst" "0.00116261" "01943" "IGF1R_000033" "g.99452143C>G" "" "" "" "IGF1R(NM_000875.3):c.1462+15C>G (p.(=)), IGF1R(NM_000875.4):c.1462+15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98908914C>G" "" "benign" "" "0000289487" "0" "50" "15" "99454613" "99454613" "subst" "0.00159587" "01943" "IGF1R_000003" "g.99454613G>A" "" "" "" "IGF1R(NM_000875.3):c.1532G>A (p.(Arg511Gln)), IGF1R(NM_000875.4):c.1532G>A (p.R511Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98911384G>A" "" "VUS" "" "0000289488" "0" "10" "15" "99456253" "99456253" "subst" "0.585522" "01943" "IGF1R_000034" "g.99456253T>C" "" "" "" "IGF1R(NM_000875.4):c.1590-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98913024T>C" "" "benign" "" "0000289489" "0" "10" "15" "99456369" "99456369" "subst" "0.00856495" "01943" "IGF1R_000035" "g.99456369G>A" "" "" "" "IGF1R(NM_000875.3):c.1686G>A (p.(Val562=)), IGF1R(NM_000875.4):c.1686G>A (p.V562=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98913140G>A" "" "benign" "" "0000289490" "0" "30" "15" "99459278" "99459278" "subst" "0.00779239" "01943" "IGF1R_000036" "g.99459278C>T" "" "" "" "IGF1R(NM_000875.3):c.1914C>T (p.(Asn638=)), IGF1R(NM_000875.4):c.1914C>T (p.N638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98916049C>T" "" "likely benign" "" "0000289491" "0" "10" "15" "99459313" "99459313" "subst" "0.00041825" "01943" "IGF1R_000037" "g.99459313G>A" "" "" "" "IGF1R(NM_000875.3):c.1949G>A (p.(Arg650Gln)), IGF1R(NM_000875.4):c.1949G>A (p.R650Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98916084G>A" "" "benign" "" "0000289492" "0" "30" "15" "99459314" "99459314" "subst" "0.00377739" "01943" "IGF1R_000038" "g.99459314G>T" "" "" "" "IGF1R(NM_000875.3):c.1950G>T (p.(Arg650=)), IGF1R(NM_000875.4):c.1950G>T (p.R650=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98916085G>T" "" "likely benign" "" "0000289493" "0" "10" "15" "99459385" "99459385" "subst" "0.00000812883" "01943" "IGF1R_000039" "g.99459385C>T" "" "" "" "IGF1R(NM_000875.4):c.1996+25C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98916156C>T" "" "benign" "" "0000289495" "0" "90" "15" "99467243" "99467243" "subst" "0" "01943" "IGF1R_000043" "g.99467243T>G" "" "" "" "IGF1R(NM_000875.4):c.2622+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98924014T>G" "" "pathogenic" "" "0000289496" "0" "10" "15" "99467930" "99467930" "subst" "0.00248184" "01943" "IGF1R_000044" "g.99467930G>A" "" "" "" "IGF1R(NM_000875.3):c.2782+17G>A (p.(=)), IGF1R(NM_000875.4):c.2782+17G>A, IGF1R(NM_000875.5):c.2782+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98924701G>A" "" "benign" "" "0000289497" "0" "10" "15" "99467943" "99467944" "del" "0.148442" "01943" "IGF1R_000046" "g.99467943_99467944del" "" "" "" "IGF1R(NM_000875.4):c.2782+30_2782+31delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98924714_98924715del" "" "benign" "" "0000289499" "0" "10" "15" "99478225" "99478225" "subst" "0.396872" "01943" "IGF1R_000008" "g.99478225G>A" "" "" "" "IGF1R(NM_000875.4):c.3129G>A (p.E1043=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98934996G>A" "" "benign" "" "0000289500" "0" "10" "15" "99478540" "99478540" "subst" "0.000926473" "01943" "IGF1R_000049" "g.99478540C>T" "" "" "" "IGF1R(NM_000875.3):c.3187-5C>T (p.?), IGF1R(NM_000875.4):c.3187-5C>T, IGF1R(NM_000875.5):c.3187-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98935311C>T" "" "benign" "" "0000289501" "0" "10" "15" "99478713" "99478713" "subst" "0" "01943" "IGF1R_000050" "g.99478713T>C" "" "" "" "IGF1R(NM_000875.4):c.3297+58T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98935484T>C" "" "benign" "" "0000289502" "0" "10" "15" "99478720" "99478721" "del" "0" "01943" "IGF1R_000051" "g.99478720_99478721del" "" "" "" "IGF1R(NM_000875.4):c.3297+65_3297+66delCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98935491_98935492del" "" "benign" "" "0000289503" "0" "50" "15" "99482403" "99482404" "del" "0.000933094" "01943" "IGF1R_000052" "g.99482403_99482404del" "" "" "" "IGF1R(NM_000875.4):c.3298-27_3298-26delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98939174_98939175del" "" "VUS" "" "0000289504" "0" "10" "15" "99500266" "99500266" "subst" "0.000439389" "01943" "IGF1R_000053" "g.99500266C>A" "" "" "" "IGF1R(NM_000875.4):c.3723-24C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98957037C>A" "" "benign" "" "0000289505" "0" "10" "15" "99500605" "99500605" "subst" "0.0592408" "01943" "IGF1R_000009" "g.99500605C>T" "" "" "" "IGF1R(NM_000875.4):c.4038C>T (p.Y1346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98957376C>T" "" "benign" "" "0000289506" "0" "50" "15" "99251169" "99251169" "subst" "0" "01943" "IGF1R_000028" "g.99251169C>G" "" "" "" "IGF1R(NM_000875.4):c.473C>G (p.S158C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98707940C>G" "" "VUS" "" "0000289507" "0" "10" "15" "99251356" "99251356" "subst" "0.291512" "01943" "IGF1R_000029" "g.99251356C>T" "" "" "" "IGF1R(NM_000875.4):c.640+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98708127C>T" "" "benign" "" "0000289508" "0" "10" "15" "99434816" "99434816" "subst" "0.0231427" "01943" "IGF1R_000030" "g.99434816C>A" "" "" "" "IGF1R(NM_000875.3):c.903C>A (p.(Gly301=)), IGF1R(NM_000875.4):c.903C>A (p.G301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98891587C>A" "" "benign" "" "0000345137" "0" "50" "15" "99251127" "99251127" "subst" "0" "02327" "IGF1R_000054" "g.99251127A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.98707898A>G" "" "VUS" "" "0000556327" "0" "50" "15" "99192881" "99192881" "subst" "0.00000412276" "02327" "IGF1R_000056" "g.99192881C>G" "" "" "" "IGF1R(NM_000875.3):c.71C>G (p.(Ser24Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98649652C>G" "" "VUS" "" "0000556328" "0" "30" "15" "99192888" "99192888" "subst" "0.00000412446" "01804" "IGF1R_000057" "g.99192888G>T" "" "" "" "IGF1R(NM_000875.3):c.78G>T (p.(Trp26Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98649659G>T" "" "likely benign" "" "0000556329" "0" "30" "15" "99192918" "99192918" "subst" "0.00225988" "01804" "IGF1R_000058" "g.99192918C>T" "" "" "" "IGF1R(NM_000875.3):c.94+14C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98649689C>T" "" "likely benign" "" "0000556330" "0" "30" "15" "99250885" "99250885" "subst" "0.000134031" "01804" "IGF1R_000059" "g.99250885C>T" "" "" "" "IGF1R(NM_000875.3):c.189C>T (p.(Leu63=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98707656C>T" "" "likely benign" "" "0000556331" "0" "50" "15" "99250908" "99250908" "subst" "0.0000203061" "01804" "IGF1R_000060" "g.99250908G>A" "" "" "" "IGF1R(NM_000875.3):c.212G>A (p.(Arg71His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98707679G>A" "" "VUS" "" "0000556332" "0" "10" "15" "99250921" "99250921" "subst" "0.0027616" "01804" "IGF1R_000061" "g.99250921C>T" "" "" "" "IGF1R(NM_000875.3):c.225C>T (p.(Phe75=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98707692C>T" "" "benign" "" "0000556333" "0" "30" "15" "99250933" "99250933" "subst" "0.000304616" "01804" "IGF1R_000062" "g.99250933G>A" "" "" "" "IGF1R(NM_000875.3):c.237G>A (p.(Thr79=)), IGF1R(NM_000875.4):c.237G>A (p.T79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98707704G>A" "" "likely benign" "" "0000556334" "0" "30" "15" "99251264" "99251264" "subst" "0.000790533" "01804" "IGF1R_000063" "g.99251264C>T" "" "" "" "IGF1R(NM_000875.3):c.568C>T (p.(Pro190Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98708035C>T" "" "likely benign" "" "0000556335" "0" "30" "15" "99434540" "99434540" "subst" "0.00056138" "01804" "IGF1R_000064" "g.99434540C>T" "" "" "" "IGF1R(NM_000875.3):c.641-14C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98891311C>T" "" "likely benign" "" "0000556336" "0" "50" "15" "99434577" "99434577" "subst" "0.000103674" "01804" "IGF1R_000065" "g.99434577C>T" "" "" "" "IGF1R(NM_000875.3):c.664C>T (p.(Arg222Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98891348C>T" "" "VUS" "" "0000556337" "0" "30" "15" "99434588" "99434588" "subst" "0.00000824266" "01804" "IGF1R_000066" "g.99434588C>T" "" "" "" "IGF1R(NM_000875.3):c.675C>T (p.(Thr225=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98891359C>T" "" "likely benign" "" "0000556338" "0" "30" "15" "99434720" "99434720" "subst" "0.0000162557" "01804" "IGF1R_000067" "g.99434720C>T" "" "" "" "IGF1R(NM_000875.3):c.807C>T (p.(Tyr269=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98891491C>T" "" "likely benign" "" "0000556339" "0" "50" "15" "99434748" "99434748" "subst" "0" "01804" "IGF1R_000068" "g.99434748C>T" "" "" "" "IGF1R(NM_000875.3):c.835C>T (p.(Arg279Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98891519C>T" "" "VUS" "" "0000556340" "0" "30" "15" "99434759" "99434759" "subst" "0.000762668" "01804" "IGF1R_000069" "g.99434759C>T" "" "" "" "IGF1R(NM_000875.3):c.846C>T (p.(Cys282=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98891530C>T" "" "likely benign" "" "0000556341" "0" "50" "15" "99434763" "99434763" "subst" "0.000101974" "01804" "IGF1R_000070" "g.99434763A>T" "" "" "" "IGF1R(NM_000875.3):c.850A>T (p.(Asn284Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98891534A>T" "" "VUS" "" "0000556342" "0" "10" "15" "99434777" "99434777" "subst" "0.00524527" "01804" "IGF1R_000071" "g.99434777C>T" "" "" "" "IGF1R(NM_000875.3):c.864C>T (p.(Ala288=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98891548C>T" "" "benign" "" "0000556343" "0" "30" "15" "99434811" "99434811" "subst" "0.000016675" "01804" "IGF1R_000072" "g.99434811G>A" "" "" "" "IGF1R(NM_000875.3):c.898G>A (p.(Asp300Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98891582G>A" "" "likely benign" "" "0000556344" "0" "10" "15" "99434816" "99434816" "subst" "0.0231427" "01804" "IGF1R_000030" "g.99434816C>A" "" "" "" "IGF1R(NM_000875.3):c.903C>A (p.(Gly301=)), IGF1R(NM_000875.4):c.903C>A (p.G301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98891587C>A" "" "benign" "" "0000556345" "0" "30" "15" "99434856" "99434856" "subst" "0.0000256211" "01804" "IGF1R_000073" "g.99434856G>A" "" "" "" "IGF1R(NM_000875.3):c.943G>A (p.(Gly315Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98891627G>A" "" "likely benign" "" "0000556346" "0" "30" "15" "99442689" "99442689" "subst" "0.000792" "01804" "IGF1R_000074" "g.99442689A>G" "" "" "" "IGF1R(NM_000875.3):c.1103-17A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98899460A>G" "" "likely benign" "" "0000556347" "0" "50" "15" "99442765" "99442765" "subst" "0.00056037" "01943" "IGF1R_000075" "g.99442765G>A" "" "" "" "IGF1R(NM_000875.3):c.1162G>A (p.(Val388Met)), IGF1R(NM_000875.4):c.1162G>A (p.V388M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98899536G>A" "" "VUS" "" "0000556348" "0" "30" "15" "99442765" "99442765" "subst" "0.00056037" "01804" "IGF1R_000075" "g.99442765G>A" "" "" "" "IGF1R(NM_000875.3):c.1162G>A (p.(Val388Met)), IGF1R(NM_000875.4):c.1162G>A (p.V388M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98899536G>A" "" "likely benign" "" "0000556349" "0" "50" "15" "99451936" "99451936" "subst" "0.00000406428" "01804" "IGF1R_000076" "g.99451936G>A" "" "" "" "IGF1R(NM_000875.3):c.1270G>A (p.(Asp424Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98908707G>A" "" "VUS" "" "0000556350" "0" "30" "15" "99451976" "99451976" "subst" "0.00315309" "01804" "IGF1R_000077" "g.99451976G>A" "" "" "" "IGF1R(NM_000875.3):c.1310G>A (p.(Arg437His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98908747G>A" "" "likely benign" "" "0000556351" "0" "30" "15" "99452002" "99452002" "subst" "0.00105237" "01804" "IGF1R_000078" "g.99452002A>G" "" "" "" "IGF1R(NM_000875.3):c.1336A>G (p.(Met446Val)), IGF1R(NM_000875.4):c.1336A>G (p.M446V), IGF1R(NM_000875.5):c.1336A>G (p.M446V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98908773A>G" "" "likely benign" "" "0000556352" "0" "10" "15" "99452143" "99452143" "subst" "0.00116261" "01804" "IGF1R_000033" "g.99452143C>G" "" "" "" "IGF1R(NM_000875.3):c.1462+15C>G (p.(=)), IGF1R(NM_000875.4):c.1462+15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98908914C>G" "" "benign" "" "0000556353" "0" "10" "15" "99454539" "99454539" "subst" "0.00299781" "01804" "IGF1R_000079" "g.99454539C>A" "" "" "" "IGF1R(NM_000875.3):c.1463-5C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98911310C>A" "" "benign" "" "0000556354" "0" "30" "15" "99454555" "99454555" "subst" "0.000560456" "01804" "IGF1R_000080" "g.99454555G>A" "" "" "" "IGF1R(NM_000875.3):c.1474G>A (p.(Val492Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98911326G>A" "" "likely benign" "" "0000556355" "0" "30" "15" "99454613" "99454613" "subst" "0.00159587" "01804" "IGF1R_000003" "g.99454613G>A" "" "" "" "IGF1R(NM_000875.3):c.1532G>A (p.(Arg511Gln)), IGF1R(NM_000875.4):c.1532G>A (p.R511Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98911384G>A" "" "likely benign" "" "0000556356" "0" "30" "15" "99456315" "99456315" "subst" "0.0000324889" "01804" "IGF1R_000081" "g.99456315C>T" "" "" "" "IGF1R(NM_000875.3):c.1632C>T (p.(Cys544=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98913086C>T" "" "likely benign" "" "0000556357" "0" "30" "15" "99456369" "99456369" "subst" "0.00856495" "01804" "IGF1R_000035" "g.99456369G>A" "" "" "" "IGF1R(NM_000875.3):c.1686G>A (p.(Val562=)), IGF1R(NM_000875.4):c.1686G>A (p.V562=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98913140G>A" "" "likely benign" "" "0000556358" "0" "50" "15" "99456467" "99456467" "subst" "0.000645711" "01804" "IGF1R_000082" "g.99456467G>A" "" "" "" "IGF1R(NM_000875.3):c.1784G>A (p.(Arg595His)), IGF1R(NM_000875.4):c.1784G>A (p.R595H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98913238G>A" "" "VUS" "" "0000556359" "0" "30" "15" "99459278" "99459278" "subst" "0.00779239" "01804" "IGF1R_000036" "g.99459278C>T" "" "" "" "IGF1R(NM_000875.3):c.1914C>T (p.(Asn638=)), IGF1R(NM_000875.4):c.1914C>T (p.N638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98916049C>T" "" "likely benign" "" "0000556360" "0" "10" "15" "99459314" "99459314" "subst" "0.00377739" "01804" "IGF1R_000038" "g.99459314G>T" "" "" "" "IGF1R(NM_000875.3):c.1950G>T (p.(Arg650=)), IGF1R(NM_000875.4):c.1950G>T (p.R650=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98916085G>T" "" "benign" "" "0000556361" "0" "50" "15" "99460005" "99460005" "subst" "0.0000122009" "01804" "IGF1R_000083" "g.99460005G>A" "" "" "" "IGF1R(NM_000875.3):c.2101G>A (p.(Ala701Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98916776G>A" "" "VUS" "" "0000556362" "0" "30" "15" "99465361" "99465361" "subst" "0.000426431" "01804" "IGF1R_000084" "g.99465361T>G" "" "" "" "IGF1R(NM_000875.3):c.2202-16T>G (p.(=)), IGF1R(NM_000875.5):c.2202-16T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98922132T>G" "" "likely benign" "" "0000556363" "0" "10" "15" "99467024" "99467025" "ins" "0" "01943" "IGF1R_000085" "g.99467024_99467025insA" "" "" "" "IGF1R(NM_000875.4):c.2486-81_2486-80insA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98923795_98923796insA" "" "benign" "" "0000556364" "0" "30" "15" "99467189" "99467189" "subst" "0.00204652" "01804" "IGF1R_000086" "g.99467189A>G" "" "" "" "IGF1R(NM_000875.3):c.2570A>G (p.(Asn857Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98923960A>G" "" "likely benign" "" "0000556365" "0" "30" "15" "99467825" "99467825" "subst" "0.0000121818" "01804" "IGF1R_000087" "g.99467825G>A" "" "" "" "IGF1R(NM_000875.3):c.2694G>A (p.(Pro898=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98924596G>A" "" "likely benign" "" "0000556366" "0" "30" "15" "99467831" "99467831" "subst" "0.00739026" "01804" "IGF1R_000088" "g.99467831C>T" "" "" "" "IGF1R(NM_000875.3):c.2700C>T (p.(Asn900=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98924602C>T" "" "likely benign" "" "0000556367" "0" "30" "15" "99467854" "99467854" "subst" "0" "01804" "IGF1R_000089" "g.99467854C>T" "" "" "" "IGF1R(NM_000875.3):c.2723C>T (p.(Thr908Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98924625C>T" "" "likely benign" "" "0000556368" "0" "30" "15" "99467919" "99467919" "del" "0" "01804" "IGF1R_000090" "g.99467919del" "" "" "" "IGF1R(NM_000875.3):c.2782+6del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98924690del" "" "likely benign" "" "0000556369" "0" "30" "15" "99467930" "99467930" "subst" "0.00248184" "01804" "IGF1R_000044" "g.99467930G>A" "" "" "" "IGF1R(NM_000875.3):c.2782+17G>A (p.(=)), IGF1R(NM_000875.4):c.2782+17G>A, IGF1R(NM_000875.5):c.2782+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98924701G>A" "" "likely benign" "" "0000556370" "0" "30" "15" "99467930" "99467930" "subst" "0.00248184" "02326" "IGF1R_000044" "g.99467930G>A" "" "" "" "IGF1R(NM_000875.3):c.2782+17G>A (p.(=)), IGF1R(NM_000875.4):c.2782+17G>A, IGF1R(NM_000875.5):c.2782+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98924701G>A" "" "likely benign" "" "0000556371" "0" "70" "15" "99472886" "99472886" "dup" "0" "01804" "IGF1R_000091" "g.99472886dup" "" "" "" "IGF1R(NM_000875.3):c.2879_2880insA (p.(Arg962GlufsTer3))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98929657dup" "" "likely pathogenic" "" "0000556372" "0" "30" "15" "99472904" "99472904" "subst" "0.000544428" "01804" "IGF1R_000092" "g.99472904A>G" "" "" "" "IGF1R(NM_000875.3):c.2885+15A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98929675A>G" "" "likely benign" "" "0000556373" "0" "30" "15" "99482546" "99482546" "subst" "0.000162444" "01804" "IGF1R_000093" "g.99482546C>T" "" "" "" "IGF1R(NM_000875.3):c.3414C>T (p.(Ala1138=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98939317C>T" "" "likely benign" "" "0000556374" "0" "30" "15" "99482567" "99482567" "subst" "0.0000446751" "01804" "IGF1R_000094" "g.99482567A>C" "" "" "" "IGF1R(NM_000875.3):c.3435A>C (p.(Glu1145Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98939338A>C" "" "likely benign" "" "0000556375" "0" "30" "15" "99486171" "99486171" "subst" "0.000617239" "01804" "IGF1R_000095" "g.99486171T>C" "" "" "" "IGF1R(NM_000875.3):c.3477T>C (p.(Asp1159=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98942942T>C" "" "likely benign" "" "0000556376" "0" "30" "15" "99491809" "99491809" "subst" "0.000865523" "01804" "IGF1R_000096" "g.99491809C>T" "" "" "" "IGF1R(NM_000875.3):c.3594C>T (p.(Phe1198=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98948580C>T" "" "likely benign" "" "0000556377" "0" "50" "15" "99491900" "99491900" "subst" "0.0000446722" "01804" "IGF1R_000097" "g.99491900G>A" "" "" "" "IGF1R(NM_000875.3):c.3685G>A (p.(Gly1229Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98948671G>A" "" "VUS" "" "0000556378" "0" "50" "15" "99491941" "99491941" "subst" "0.000032496" "02327" "IGF1R_000098" "g.99491941C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98948712C>T" "" "VUS" "" "0000556379" "0" "70" "15" "99491942" "99491942" "subst" "0" "01804" "IGF1R_000099" "g.99491942G>A" "" "" "" "IGF1R(NM_000875.3):c.3722+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98948713G>A" "" "likely pathogenic" "" "0000556380" "0" "50" "15" "99500471" "99500471" "subst" "0" "01804" "IGF1R_000100" "g.99500471A>T" "" "" "" "IGF1R(NM_000875.3):c.3904A>T (p.(Ser1302Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98957242A>T" "" "VUS" "" "0000556381" "0" "30" "15" "99500485" "99500485" "subst" "0.000406759" "01804" "IGF1R_000101" "g.99500485C>T" "" "" "" "IGF1R(NM_000875.3):c.3918C>T (p.(Asp1306=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98957256C>T" "" "likely benign" "" "0000556382" "0" "50" "15" "99500625" "99500625" "subst" "0.00024232" "01804" "IGF1R_000102" "g.99500625G>A" "" "" "" "IGF1R(NM_000875.3):c.4058G>A (p.(Arg1353His)), IGF1R(NM_000875.4):c.4058G>A (p.R1353H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98957396G>A" "" "VUS" "" "0000556383" "0" "50" "15" "99500633" "99500633" "subst" "0.0000533986" "01804" "IGF1R_000103" "g.99500633G>A" "" "" "" "IGF1R(NM_000875.3):c.4066G>A (p.(Glu1356Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98957404G>A" "" "VUS" "" "0000556384" "0" "50" "15" "99500636" "99500636" "subst" "0.000250895" "01804" "IGF1R_000104" "g.99500636C>T" "" "" "" "IGF1R(NM_000875.3):c.4069C>T (p.(Arg1357Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98957407C>T" "" "VUS" "" "0000556385" "0" "30" "15" "99500663" "99500663" "subst" "0.0000577911" "01804" "IGF1R_000105" "g.99500663A>C" "" "" "" "IGF1R(NM_000875.3):c.4096A>C (p.(Thr1366Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98957434A>C" "" "likely benign" "" "0000556386" "0" "50" "15" "99511918" "99511918" "subst" "0" "01804" "IGF1R_000106" "g.99511918C>G" "" "" "" "PGPEP1L(NM_001102612.2):c.380G>C (p.(Cys127Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98968689C>G" "" "VUS" "" "0000615665" "0" "30" "15" "99192894" "99192894" "subst" "0.0000904821" "01943" "IGF1R_000108" "g.99192894G>A" "" "" "" "IGF1R(NM_000875.3):c.84G>A (p.(Thr28=)), IGF1R(NM_000875.4):c.84G>A (p.T28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98649665G>A" "" "likely benign" "" "0000615666" "0" "70" "15" "99440106" "99440106" "subst" "0" "02327" "IGF1R_000109" "g.99440106C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98896877C>T" "" "likely pathogenic" "" "0000615668" "0" "50" "15" "99460060" "99460060" "subst" "0" "01804" "IGF1R_000110" "g.99460060G>A" "" "" "" "IGF1R(NM_000875.3):c.2156G>A (p.(Arg719His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98916831G>A" "" "VUS" "" "0000615669" "0" "30" "15" "99465361" "99465361" "subst" "0.000426431" "02326" "IGF1R_000084" "g.99465361T>G" "" "" "" "IGF1R(NM_000875.3):c.2202-16T>G (p.(=)), IGF1R(NM_000875.5):c.2202-16T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98922132T>G" "" "likely benign" "" "0000615670" "0" "30" "15" "99467156" "99467156" "subst" "0.0000203029" "01943" "IGF1R_000111" "g.99467156A>G" "" "" "" "IGF1R(NM_000875.3):c.2537A>G (p.(Asn846Ser)), IGF1R(NM_000875.4):c.2537A>G (p.N846S), IGF1R(NM_000875.5):c.2537A>G (p.N846S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98923927A>G" "" "likely benign" "" "0000624859" "10" "90" "15" "99442764" "99442764" "subst" "0" "00006" "IGF1R_000107" "g.99442764C>A" "" "{PMID:Mohn 2011:21811077}" "" "" "" "Germline" "yes" "" "0" "" "" "g.98899535C>A" "" "pathogenic (dominant)" "" "0000649206" "1" "30" "15" "99434816" "99434816" "subst" "0.0231427" "03575" "IGF1R_000030" "g.99434816C>A" "195/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "195 heterozygous; {DB:CLININrs2229764}" "Germline" "" "rs2229764" "0" "" "" "g.98891587C>A" "" "likely benign" "" "0000649207" "1" "30" "15" "99504004" "99504004" "subst" "0" "03575" "IGF1R_000112" "g.99504004G>A" "150/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "150 heterozygous; {DB:CLININrs61736167}" "Germline" "" "rs61736167" "0" "" "" "g.98960775G>A" "" "likely benign" "" "0000657711" "0" "50" "15" "99454583" "99454583" "subst" "0.00000406068" "02325" "IGF1R_000113" "g.99454583C>G" "" "" "" "IGF1R(NM_000875.5):c.1502C>G (p.S501W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98911354C>G" "" "VUS" "" "0000669303" "3" "30" "15" "99434816" "99434816" "subst" "0.0231427" "03575" "IGF1R_000030" "g.99434816C>A" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs2229764}" "Germline" "" "rs2229764" "0" "" "" "g.98891587C>A" "" "likely benign" "" "0000669304" "3" "30" "15" "99504004" "99504004" "subst" "0" "03575" "IGF1R_000112" "g.99504004G>A" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs61736167}" "Germline" "" "rs61736167" "0" "" "" "g.98960775G>A" "" "likely benign" "" "0000680350" "0" "50" "15" "99440077" "99440077" "subst" "0" "01804" "IGF1R_000114" "g.99440077A>G" "" "" "" "IGF1R(NM_000875.3):c.1045A>G (p.(Met349Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680351" "0" "30" "15" "99452002" "99452002" "subst" "0.00105237" "01943" "IGF1R_000078" "g.99452002A>G" "" "" "" "IGF1R(NM_000875.3):c.1336A>G (p.(Met446Val)), IGF1R(NM_000875.4):c.1336A>G (p.M446V), IGF1R(NM_000875.5):c.1336A>G (p.M446V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680352" "0" "50" "15" "99482456" "99482456" "subst" "0" "01804" "IGF1R_000115" "g.99482456C>A" "" "" "" "IGF1R(NM_000875.3):c.3324C>A (p.(Ser1108Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691919" "0" "30" "15" "99250933" "99250933" "subst" "0.000304616" "01943" "IGF1R_000062" "g.99250933G>A" "" "" "" "IGF1R(NM_000875.3):c.237G>A (p.(Thr79=)), IGF1R(NM_000875.4):c.237G>A (p.T79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691921" "0" "30" "15" "99465578" "99465578" "subst" "0" "01943" "IGF1R_000117" "g.99465578C>T" "" "" "" "IGF1R(NM_000875.4):c.2403C>T (p.I801=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691922" "0" "30" "15" "99482585" "99482585" "subst" "0.0000203077" "02325" "IGF1R_000118" "g.99482585C>T" "" "" "" "IGF1R(NM_000875.5):c.3453C>T (p.I1151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691923" "0" "50" "15" "99500625" "99500625" "subst" "0.00024232" "01943" "IGF1R_000102" "g.99500625G>A" "" "" "" "IGF1R(NM_000875.3):c.4058G>A (p.(Arg1353His)), IGF1R(NM_000875.4):c.4058G>A (p.R1353H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725399" "0" "50" "15" "99434685" "99434685" "subst" "0.000308898" "01804" "IGF1R_000119" "g.99434685G>A" "" "" "" "IGF1R(NM_000875.3):c.772G>A (p.(Gly258Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725400" "0" "50" "15" "99440128" "99440128" "subst" "0.00000406187" "01943" "IGF1R_000120" "g.99440128C>T" "" "" "" "IGF1R(NM_000875.4):c.1096C>T (p.R366W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725401" "0" "90" "15" "99456272" "99456272" "subst" "0" "02329" "IGF1R_000121" "g.99456272G>C" "" "" "" "IGF1R(NM_000875.5):c.1590-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725402" "0" "30" "15" "99465449" "99465449" "subst" "0.000292386" "01804" "IGF1R_000122" "g.99465449G>A" "" "" "" "IGF1R(NM_000875.3):c.2274G>A (p.(Thr758=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725403" "0" "90" "15" "99465660" "99465660" "subst" "0" "01943" "IGF1R_000123" "g.99465660G>T" "" "" "" "IGF1R(NM_000875.4):c.2485G>T (p.E829*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725404" "0" "50" "15" "99500577" "99500577" "subst" "0.0000204145" "01804" "IGF1R_000124" "g.99500577G>A" "" "" "" "IGF1R(NM_000875.3):c.4010G>A (p.(Arg1337His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807026" "0" "50" "15" "99192856" "99192856" "subst" "0" "01943" "IGF1R_000125" "g.99192856C>T" "" "" "" "IGF1R(NM_000875.4):c.46C>T (p.L16F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807027" "0" "30" "15" "99452002" "99452002" "subst" "0.00105237" "02325" "IGF1R_000078" "g.99452002A>G" "" "" "" "IGF1R(NM_000875.3):c.1336A>G (p.(Met446Val)), IGF1R(NM_000875.4):c.1336A>G (p.M446V), IGF1R(NM_000875.5):c.1336A>G (p.M446V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807028" "0" "50" "15" "99454627" "99454627" "subst" "0" "02325" "IGF1R_000126" "g.99454627G>T" "" "" "" "IGF1R(NM_000875.5):c.1546G>T (p.D516Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807029" "0" "30" "15" "99456467" "99456467" "subst" "0.000645711" "01943" "IGF1R_000082" "g.99456467G>A" "" "" "" "IGF1R(NM_000875.3):c.1784G>A (p.(Arg595His)), IGF1R(NM_000875.4):c.1784G>A (p.R595H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807030" "0" "30" "15" "99472788" "99472788" "subst" "0.00000406078" "01943" "IGF1R_000127" "g.99472788A>G" "" "" "" "IGF1R(NM_000875.4):c.2784A>G (p.T928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807031" "0" "30" "15" "99472818" "99472818" "subst" "0.000117763" "01804" "IGF1R_000128" "g.99472818C>T" "" "" "" "IGF1R(NM_000875.3):c.2814C>T (p.(Ile938=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807032" "0" "50" "15" "99472868" "99472868" "subst" "0" "02327" "IGF1R_000129" "g.99472868T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000831173" "0" "30" "15" "99500266" "99500266" "subst" "0.000439389" "03779" "IGF1R_000053" "g.99500266C>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs534126404" "0" "" "" "" "" "likely benign" "" "0000841603" "0" "50" "15" "99465415" "99465415" "subst" "0.0000771523" "03779" "IGF1R_000130" "g.99465415A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs146902252" "0" "" "" "" "" "VUS" "" "0000846762" "0" "90" "15" "99460032" "99460043" "del" "0" "03779" "IGF1R_000131" "g.99460032_99460043del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000864207" "0" "30" "15" "99192826" "99192826" "subst" "0.000599164" "01804" "IGF1R_000132" "g.99192826G>A" "" "" "" "IGF1R(NM_000875.3):c.16G>A (p.(Gly6Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864208" "0" "30" "15" "99192839" "99192839" "subst" "0.00000823642" "01804" "IGF1R_000133" "g.99192839C>G" "" "" "" "IGF1R(NM_000875.3):c.29C>G (p.(Pro10Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864209" "0" "30" "15" "99192894" "99192894" "subst" "0.0000904821" "01804" "IGF1R_000108" "g.99192894G>A" "" "" "" "IGF1R(NM_000875.3):c.84G>A (p.(Thr28=)), IGF1R(NM_000875.4):c.84G>A (p.T28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864210" "0" "50" "15" "99250838" "99250838" "subst" "0.00000812698" "01804" "IGF1R_000134" "g.99250838C>T" "" "" "" "IGF1R(NM_000875.3):c.142C>T (p.(Arg48Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864211" "0" "50" "15" "99250961" "99250961" "subst" "0" "01804" "IGF1R_000135" "g.99250961C>G" "" "" "" "IGF1R(NM_000875.3):c.265C>G (p.(Arg89Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864212" "0" "30" "15" "99250976" "99250976" "subst" "0.00000406246" "01804" "IGF1R_000136" "g.99250976G>A" "" "" "" "IGF1R(NM_000875.3):c.280G>A (p.(Glu94Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864213" "0" "10" "15" "99251098" "99251098" "subst" "0.00164058" "01804" "IGF1R_000137" "g.99251098G>A" "" "" "" "IGF1R(NM_000875.3):c.402G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864214" "0" "30" "15" "99251266" "99251266" "subst" "0.0000163054" "01804" "IGF1R_000138" "g.99251266G>T" "" "" "" "IGF1R(NM_000875.3):c.570G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864215" "0" "30" "15" "99434650" "99434650" "subst" "0.00000407637" "01804" "IGF1R_000139" "g.99434650C>T" "" "" "" "IGF1R(NM_000875.3):c.737C>T (p.(Thr246Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864216" "0" "50" "15" "99434677" "99434677" "subst" "0" "01804" "IGF1R_000140" "g.99434677A>G" "" "" "" "IGF1R(NM_000875.3):c.764A>G (p.(Tyr255Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864217" "0" "10" "15" "99434798" "99434798" "subst" "0.00352284" "01804" "IGF1R_000141" "g.99434798G>A" "" "" "" "IGF1R(NM_000875.3):c.885G>A (p.(Gly295=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864218" "0" "30" "15" "99434855" "99434855" "subst" "0.000191914" "01804" "IGF1R_000142" "g.99434855C>T" "" "" "" "IGF1R(NM_000875.3):c.942C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864219" "0" "30" "15" "99439973" "99439973" "del" "0" "01804" "IGF1R_000143" "g.99439973del" "" "" "" "IGF1R(NM_000875.3):c.954-13del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864220" "0" "30" "15" "99440019" "99440019" "subst" "0.00000812315" "01804" "IGF1R_000144" "g.99440019G>A" "" "" "" "IGF1R(NM_000875.3):c.987G>A (p.(Pro329=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864221" "0" "30" "15" "99440087" "99440087" "subst" "0" "01804" "IGF1R_000145" "g.99440087G>A" "" "" "" "IGF1R(NM_000875.3):c.1055G>A (p.(Gly352Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864222" "0" "50" "15" "99442760" "99442760" "subst" "0" "01804" "IGF1R_000146" "g.99442760G>T" "" "" "" "IGF1R(NM_000875.3):c.1157G>T (p.(Gly386Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864223" "0" "30" "15" "99442797" "99442797" "subst" "0.000617219" "01804" "IGF1R_000032" "g.99442797C>T" "" "" "" "IGF1R(NM_000875.3):c.1194C>T (p.(Ser398=)), IGF1R(NM_000875.4):c.1194C>T (p.S398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864224" "0" "30" "15" "99442815" "99442815" "subst" "0.000109643" "01804" "IGF1R_000147" "g.99442815C>T" "" "" "" "IGF1R(NM_000875.3):c.1212C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864225" "0" "50" "15" "99442820" "99442820" "subst" "0.000032487" "01804" "IGF1R_000148" "g.99442820G>A" "" "" "" "IGF1R(NM_000875.3):c.1217G>A (p.(Arg406His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864226" "0" "30" "15" "99452118" "99452118" "subst" "0.0000735336" "01804" "IGF1R_000149" "g.99452118G>A" "" "" "" "IGF1R(NM_000875.3):c.1452G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864227" "0" "30" "15" "99454554" "99454554" "subst" "0.0000974754" "01804" "IGF1R_000150" "g.99454554C>T" "" "" "" "IGF1R(NM_000875.3):c.1473C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864228" "0" "30" "15" "99454583" "99454583" "subst" "0.000365461" "01804" "IGF1R_000151" "g.99454583C>T" "" "" "" "IGF1R(NM_000875.3):c.1502C>T (p.(Ser501Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864229" "0" "30" "15" "99454584" "99454584" "subst" "0.00011776" "01804" "IGF1R_000152" "g.99454584G>A" "" "" "" "IGF1R(NM_000875.3):c.1503G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864230" "0" "30" "15" "99454653" "99454653" "subst" "0.0000609127" "01804" "IGF1R_000153" "g.99454653C>T" "" "" "" "IGF1R(NM_000875.3):c.1572C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864231" "0" "30" "15" "99454687" "99454687" "subst" "0.000174624" "01804" "IGF1R_000154" "g.99454687G>A" "" "" "" "IGF1R(NM_000875.3):c.1589+17G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864232" "0" "30" "15" "99456256" "99456256" "subst" "0.00000406286" "01804" "IGF1R_000155" "g.99456256A>G" "" "" "" "IGF1R(NM_000875.3):c.1590-17A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864233" "0" "30" "15" "99456396" "99456396" "subst" "0.00000406114" "01804" "IGF1R_000156" "g.99456396G>A" "" "" "" "IGF1R(NM_000875.3):c.1713G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864234" "0" "30" "15" "99456487" "99456487" "subst" "0.0000203049" "01804" "IGF1R_000157" "g.99456487T>C" "" "" "" "IGF1R(NM_000875.3):c.1804T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864235" "0" "30" "15" "99459304" "99459304" "subst" "0" "01804" "IGF1R_000158" "g.99459304G>A" "" "" "" "IGF1R(NM_000875.3):c.1940G>A (p.(Arg647His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864236" "0" "10" "15" "99459313" "99459313" "subst" "0.00041825" "01804" "IGF1R_000037" "g.99459313G>A" "" "" "" "IGF1R(NM_000875.3):c.1949G>A (p.(Arg650Gln)), IGF1R(NM_000875.4):c.1949G>A (p.R650Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864237" "0" "30" "15" "99465364" "99465364" "subst" "0.000146207" "01804" "IGF1R_000159" "g.99465364C>A" "" "" "" "IGF1R(NM_000875.3):c.2202-13C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864238" "0" "30" "15" "99465413" "99465413" "subst" "0" "01804" "IGF1R_000160" "g.99465413C>A" "" "" "" "IGF1R(NM_000875.3):c.2238C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864239" "0" "50" "15" "99465433" "99465433" "subst" "0.00000406088" "01804" "IGF1R_000161" "g.99465433G>A" "" "" "" "IGF1R(NM_000875.3):c.2258G>A (p.(Arg753Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864240" "0" "30" "15" "99465451" "99465451" "subst" "0.0000121826" "01804" "IGF1R_000162" "g.99465451C>G" "" "" "" "IGF1R(NM_000875.3):c.2276C>G (p.(Ala759Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864241" "0" "30" "15" "99465453" "99465453" "subst" "0.00000812196" "01804" "IGF1R_000163" "g.99465453G>A" "" "" "" "IGF1R(NM_000875.3):c.2278G>A (p.(Ala760Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864242" "0" "30" "15" "99465566" "99465566" "subst" "0.0000243635" "01804" "IGF1R_000164" "g.99465566A>G" "" "" "" "IGF1R(NM_000875.3):c.2391A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864243" "0" "30" "15" "99465624" "99465624" "subst" "0.0000203555" "01804" "IGF1R_000165" "g.99465624G>A" "" "" "" "IGF1R(NM_000875.3):c.2449G>A (p.(Ala817Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864244" "0" "30" "15" "99467143" "99467143" "subst" "0.0000568482" "01804" "IGF1R_000166" "g.99467143C>T" "" "" "" "IGF1R(NM_000875.3):c.2524C>T (p.(Pro842Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864245" "0" "30" "15" "99467177" "99467177" "subst" "0.000158363" "01804" "IGF1R_000167" "g.99467177C>T" "" "" "" "IGF1R(NM_000875.3):c.2558C>T (p.(Pro853Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864246" "0" "30" "15" "99467226" "99467226" "subst" "0.0000974548" "01804" "IGF1R_000168" "g.99467226C>T" "" "" "" "IGF1R(NM_000875.3):c.2607C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864247" "0" "30" "15" "99467840" "99467840" "subst" "0.0000243633" "01804" "IGF1R_000169" "g.99467840C>T" "" "" "" "IGF1R(NM_000875.3):c.2709C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864248" "0" "30" "15" "99467894" "99467894" "subst" "0" "01804" "IGF1R_000170" "g.99467894C>G" "" "" "" "IGF1R(NM_000875.3):c.2763C>G (p.(Phe921Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864249" "0" "30" "15" "99467924" "99467924" "subst" "0" "01804" "IGF1R_000171" "g.99467924T>G" "" "" "" "IGF1R(NM_000875.3):c.2782+11T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864250" "0" "50" "15" "99472846" "99472846" "subst" "0.0000121828" "01943" "IGF1R_000172" "g.99472846G>A" "" "" "" "IGF1R(NM_000875.4):c.2842G>A (p.V948M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864251" "0" "30" "15" "99472848" "99472848" "subst" "0.0000121827" "01804" "IGF1R_000173" "g.99472848G>C" "" "" "" "IGF1R(NM_000875.3):c.2844G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864252" "0" "30" "15" "99473466" "99473466" "subst" "0.0000244509" "01804" "IGF1R_000174" "g.99473466A>G" "" "" "" "IGF1R(NM_000875.3):c.2888A>G (p.(Asn963Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864253" "0" "30" "15" "99473473" "99473473" "subst" "0.0000366739" "01804" "IGF1R_000175" "g.99473473C>T" "" "" "" "IGF1R(NM_000875.3):c.2895C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864254" "0" "50" "15" "99478054" "99478054" "subst" "0.000020309" "01804" "IGF1R_000176" "g.99478054G>A" "" "" "" "IGF1R(NM_000875.3):c.2958G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864255" "0" "30" "15" "99478204" "99478204" "subst" "0.000117781" "01804" "IGF1R_000177" "g.99478204C>T" "" "" "" "IGF1R(NM_000875.3):c.3108C>T (p.(Asn1036=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864256" "0" "30" "15" "99478540" "99478540" "subst" "0.000926473" "01804" "IGF1R_000049" "g.99478540C>T" "" "" "" "IGF1R(NM_000875.3):c.3187-5C>T (p.?), IGF1R(NM_000875.4):c.3187-5C>T, IGF1R(NM_000875.5):c.3187-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864257" "0" "30" "15" "99478540" "99478540" "subst" "0.000926473" "02325" "IGF1R_000049" "g.99478540C>T" "" "" "" "IGF1R(NM_000875.3):c.3187-5C>T (p.?), IGF1R(NM_000875.4):c.3187-5C>T, IGF1R(NM_000875.5):c.3187-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864258" "0" "30" "15" "99482421" "99482421" "subst" "0.00113471" "01804" "IGF1R_000179" "g.99482421C>G" "" "" "" "IGF1R(NM_000875.3):c.3298-9C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864259" "0" "50" "15" "99486163" "99486163" "subst" "0" "01804" "IGF1R_000180" "g.99486163A>C" "" "" "" "IGF1R(NM_000875.3):c.3469A>C (p.(Thr1157Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864260" "0" "50" "15" "99486193" "99486193" "subst" "0.00000406085" "01804" "IGF1R_000181" "g.99486193C>T" "" "" "" "IGF1R(NM_000875.3):c.3499C>T (p.(Arg1167Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864261" "0" "30" "15" "99486276" "99486276" "subst" "0.000320786" "01804" "IGF1R_000182" "g.99486276C>T" "" "" "" "IGF1R(NM_000875.3):c.3582C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864262" "0" "30" "15" "99500286" "99500286" "subst" "0.000658221" "01804" "IGF1R_000183" "g.99500286G>A" "" "" "" "IGF1R(NM_000875.3):c.3723-4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864263" "0" "30" "15" "99500381" "99500381" "subst" "0.00000406068" "01804" "IGF1R_000184" "g.99500381C>T" "" "" "" "IGF1R(NM_000875.3):c.3814C>T (p.(Pro1272Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864264" "0" "50" "15" "99500432" "99500432" "subst" "0.00000812348" "01804" "IGF1R_000185" "g.99500432G>A" "" "" "" "IGF1R(NM_000875.3):c.3865G>A (p.(Glu1289Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864265" "0" "50" "15" "99500436" "99500436" "subst" "0.0000365524" "01804" "IGF1R_000186" "g.99500436C>T" "" "" "" "IGF1R(NM_000875.3):c.3869C>T (p.(Pro1290Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864266" "0" "30" "15" "99500440" "99500440" "subst" "0.0000040619" "01804" "IGF1R_000187" "g.99500440G>A" "" "" "" "IGF1R(NM_000875.3):c.3873G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864267" "0" "30" "15" "99500500" "99500500" "subst" "0.000040823" "01804" "IGF1R_000188" "g.99500500G>A" "" "" "" "IGF1R(NM_000875.3):c.3933G>A (p.(Ser1311=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864268" "0" "50" "15" "99500515" "99500515" "subst" "0.00000407481" "01804" "IGF1R_000189" "g.99500515G>T" "" "" "" "IGF1R(NM_000875.3):c.3948G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864269" "0" "30" "15" "99500542" "99500542" "subst" "0.0000285689" "01804" "IGF1R_000190" "g.99500542C>T" "" "" "" "IGF1R(NM_000875.3):c.3975C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864270" "0" "30" "15" "99500557" "99500557" "subst" "0.00000816713" "01804" "IGF1R_000191" "g.99500557C>G" "" "" "" "IGF1R(NM_000875.3):c.3990C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864271" "0" "30" "15" "99500576" "99500576" "subst" "0.000326733" "01804" "IGF1R_000192" "g.99500576C>T" "" "" "" "IGF1R(NM_000875.3):c.4009C>T (p.(Arg1337Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864272" "0" "30" "15" "99500647" "99500647" "subst" "0.000226513" "01804" "IGF1R_000193" "g.99500647G>A" "" "" "" "IGF1R(NM_000875.3):c.4080G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864273" "0" "50" "15" "99500654" "99500654" "subst" "0.00000824402" "01804" "IGF1R_000194" "g.99500654C>T" "" "" "" "IGF1R(NM_000875.3):c.4087C>T (p.(Gln1363*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000868117" "0" "30" "15" "99478609" "99478609" "subst" "0.0000134104" "03779" "IGF1R_000178" "g.99478609G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1330526325" "0" "" "" "" "" "likely benign" "" "0000868331" "0" "70" "15" "99442769" "99442774" "delins" "0" "03779" "IGF1R_000195" "g.99442769_99442774delinsCGG" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000877163" "0" "90" "15" "99467760" "99467760" "subst" "0" "03779" "IGF1R_000196" "g.99467760C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs150221450" "0" "" "" "" "" "pathogenic" "" "0000892456" "0" "50" "15" "99192881" "99192881" "subst" "0.00000412276" "01804" "IGF1R_000056" "g.99192881C>G" "" "" "" "IGF1R(NM_000875.3):c.71C>G (p.(Ser24Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892457" "0" "50" "15" "99192893" "99192893" "subst" "0" "02325" "IGF1R_000197" "g.99192893C>T" "" "" "" "IGF1R(NM_000875.5):c.83C>T (p.T28M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892458" "0" "50" "15" "99251091" "99251091" "subst" "0" "01804" "IGF1R_000198" "g.99251091A>G" "" "" "" "IGF1R(NM_000875.3):c.395A>G (p.(Asn132Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892459" "0" "50" "15" "99434725" "99434725" "subst" "0" "02327" "IGF1R_000199" "g.99434725T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892460" "0" "30" "15" "99434798" "99434798" "subst" "0.000194335" "01804" "IGF1R_000200" "g.99434798G>T" "" "" "" "IGF1R(NM_000875.3):c.885G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892461" "0" "30" "15" "99434810" "99434810" "subst" "0.0000166554" "01804" "IGF1R_000201" "g.99434810C>T" "" "" "" "IGF1R(NM_000875.3):c.897C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892462" "0" "30" "15" "99434884" "99434884" "subst" "0.000140512" "01804" "IGF1R_000202" "g.99434884G>A" "" "" "" "IGF1R(NM_000875.3):c.953+18G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892463" "0" "30" "15" "99439968" "99439968" "subst" "0" "01804" "IGF1R_000203" "g.99439968T>C" "" "" "" "IGF1R(NM_000875.3):c.954-18T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892464" "0" "30" "15" "99442853" "99442853" "subst" "0.000605125" "01804" "IGF1R_000204" "g.99442853A>G" "" "" "" "IGF1R(NM_000875.3):c.1247+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892465" "0" "30" "15" "99454581" "99454581" "subst" "0.00012182" "01804" "IGF1R_000205" "g.99454581G>A" "" "" "" "IGF1R(NM_000875.3):c.1500G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892466" "0" "50" "15" "99456362" "99456362" "subst" "0.0000690355" "01804" "IGF1R_000206" "g.99456362A>G" "" "" "" "IGF1R(NM_000875.3):c.1679A>G (p.(Lys560Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892467" "0" "50" "15" "99459982" "99459982" "subst" "0.0000243645" "01804" "IGF1R_000207" "g.99459982G>A" "" "" "" "IGF1R(NM_000875.3):c.2078G>A (p.(Gly693Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892468" "0" "30" "15" "99460052" "99460052" "subst" "0.0000121831" "01804" "IGF1R_000208" "g.99460052T>A" "" "" "" "IGF1R(NM_000875.3):c.2148T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892469" "0" "50" "15" "99460108" "99460108" "subst" "0" "01804" "IGF1R_000209" "g.99460108A>G" "" "" "" "IGF1R(NM_000875.3):c.2201+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892470" "0" "30" "15" "99467156" "99467156" "subst" "0.0000203029" "01804" "IGF1R_000111" "g.99467156A>G" "" "" "" "IGF1R(NM_000875.3):c.2537A>G (p.(Asn846Ser)), IGF1R(NM_000875.4):c.2537A>G (p.N846S), IGF1R(NM_000875.5):c.2537A>G (p.N846S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892471" "0" "30" "15" "99467156" "99467156" "subst" "0.0000203029" "02325" "IGF1R_000111" "g.99467156A>G" "" "" "" "IGF1R(NM_000875.3):c.2537A>G (p.(Asn846Ser)), IGF1R(NM_000875.4):c.2537A>G (p.N846S), IGF1R(NM_000875.5):c.2537A>G (p.N846S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892472" "0" "50" "15" "99467220" "99467220" "subst" "0" "01804" "IGF1R_000042" "g.99467220A>G" "" "" "" "IGF1R(NM_000875.3):c.2601A>G (p.(Ile867Met)), IGF1R(NM_000875.4):c.2601A>G (p.I867M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892473" "0" "30" "15" "99467922" "99467922" "dup" "0" "01804" "IGF1R_000210" "g.99467922dup" "" "" "" "IGF1R(NM_000875.3):c.2782+9dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892474" "0" "30" "15" "99478675" "99478675" "subst" "0.0000604262" "01804" "IGF1R_000211" "g.99478675G>T" "" "" "" "IGF1R(NM_000875.3):c.3297+20G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892475" "0" "30" "15" "99482424" "99482424" "subst" "0.00000406587" "01804" "IGF1R_000212" "g.99482424C>T" "" "" "" "IGF1R(NM_000875.3):c.3298-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892476" "0" "30" "15" "99500473" "99500473" "subst" "0.0000569096" "01804" "IGF1R_000213" "g.99500473C>T" "" "" "" "IGF1R(NM_000875.3):c.3906C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892477" "0" "30" "15" "99500474" "99500474" "subst" "0.0000284601" "01804" "IGF1R_000214" "g.99500474G>A" "" "" "" "IGF1R(NM_000875.3):c.3907G>A (p.(Val1303Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892478" "0" "30" "15" "99500492" "99500492" "subst" "0.000122255" "01804" "IGF1R_000215" "g.99500492G>A" "" "" "" "IGF1R(NM_000875.3):c.3925G>A (p.(Ala1309Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892479" "0" "30" "15" "99500554" "99500554" "subst" "0.0000367635" "01804" "IGF1R_000216" "g.99500554C>T" "" "" "" "IGF1R(NM_000875.3):c.3987C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000903258" "0" "70" "15" "99486224" "99486224" "subst" "0" "03779" "IGF1R_000217" "g.99486224G>A" "" "" "" "" "" "Unknown" "" "rs1596476159" "0" "" "" "" "" "likely pathogenic" "" "0000905093" "0" "30" "15" "99500439" "99500439" "subst" "0" "03779" "IGF1R_000221" "g.99500439A>G" "" "" "" "" "" "Unknown" "" "rs1215292877" "0" "" "" "" "" "likely benign" "" "0000905146" "0" "70" "15" "99482586" "99482586" "subst" "0" "03779" "IGF1R_000220" "g.99482586G>A" "" "" "" "" "" "Unknown" "" "rs1596472892" "0" "" "" "" "" "likely pathogenic" "" "0000905239" "0" "70" "15" "99452067" "99452067" "dup" "0" "03779" "IGF1R_000218" "g.99452067dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000905840" "0" "90" "15" "99478548" "99478548" "subst" "0" "03779" "IGF1R_000219" "g.99478548C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000907880" "0" "50" "15" "99478609" "99478609" "subst" "0.0000134104" "03779" "IGF1R_000178" "g.99478609G>A" "" "" "" "" "" "Unknown" "" "rs1330526325" "0" "" "" "" "" "VUS" "" "0000907882" "0" "50" "15" "99434674" "99434674" "subst" "0" "03779" "IGF1R_000222" "g.99434674A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000909974" "0" "70" "15" "99500555" "99500555" "subst" "0.0000408417" "00006" "IGF1R_000223" "g.99500555G>A" "" "{PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "Germline" "" "" "0" "" "" "g.98957326G>A" "" "VUS" "" "0000914435" "0" "30" "15" "99434786" "99434786" "subst" "0.000230565" "01804" "IGF1R_000224" "g.99434786C>T" "" "" "" "IGF1R(NM_000875.3):c.873C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914436" "0" "50" "15" "99454674" "99454674" "subst" "0" "01804" "IGF1R_000225" "g.99454674A>G" "" "" "" "IGF1R(NM_000875.3):c.1589+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914437" "0" "50" "15" "99460015" "99460015" "subst" "0" "01804" "IGF1R_000226" "g.99460015A>G" "" "" "" "IGF1R(NM_000875.3):c.2111A>G (p.(Lys704Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914438" "0" "70" "15" "99460062" "99460062" "subst" "0" "01804" "IGF1R_000227" "g.99460062A>G" "" "" "" "IGF1R(NM_000875.3):c.2158A>G (p.(Lys720Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914439" "0" "30" "15" "99478613" "99478613" "subst" "0.000207878" "01804" "IGF1R_000228" "g.99478613C>T" "" "" "" "IGF1R(NM_000875.3):c.3255C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914440" "0" "50" "15" "99486259" "99486259" "subst" "0" "02327" "IGF1R_000229" "g.99486259T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914441" "0" "50" "15" "99491841" "99491841" "subst" "0" "01804" "IGF1R_000230" "g.99491841C>G" "" "" "" "IGF1R(NM_000875.3):c.3626C>G (p.(Ala1209Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914442" "0" "50" "15" "99491936" "99491936" "subst" "0.0000974786" "01804" "IGF1R_000231" "g.99491936C>T" "" "" "" "IGF1R(NM_000875.3):c.3721C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914443" "0" "30" "15" "99500517" "99500517" "subst" "0.00000407561" "01804" "IGF1R_000232" "g.99500517C>G" "" "" "" "IGF1R(NM_000875.3):c.3950C>G (p.(Pro1317Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes IGF1R ## Count = 258 "{{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}}" "0000074016" "00009867" "70" "2201" "0" "2201" "0" "c.2201G>T" "r.2201_2202ins2201+1_2201+75" "p.Pro733_Arg734insMYPAHVKFQFAKPTAQAGSVAFLPT" "10" "0000076670" "00009867" "70" "2201" "0" "2201" "0" "c.2201G>T" "r.2201_2202ins2201+1_2201+75" "p.Pro733_Arg734insMYPAHVKFQFAKPTAQAGSVAFLPT" "10" "0000128616" "00009867" "90" "265" "0" "265" "0" "c.265C>T" "r.265c>u" "p.Arg89*" "2" "0000128617" "00009867" "90" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Arg89*)" "2" "0000128618" "00009867" "90" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Arg89*)" "2" "0000128619" "00009867" "70" "" "" "" "" "c.(?_rs11630665)_(rs12912857_?)del" "r.(?)" "p.(?)" "01_21" "0000128620" "00009867" "70" "" "" "" "" "c.(?_rs11857366)_(rs7169385_?)del" "r.(?)" "p.(?)" "2i_21i" "0000128621" "00009867" "70" "2216" "0" "2216" "0" "c.2216G>A" "r.(?)" "p.(Arg739Gln)" "11" "0000128623" "00009867" "70" "1532" "0" "1532" "0" "c.1532G>A" "r.1532g>a" "p.Arg511Gln" "7" "0000128626" "00009867" "70" "3348" "0" "3366" "0" "c.3348_3366dup" "r.3348_3366dup" "p.Met1123Argfs*14" "18" "0000128628" "00009867" "70" "" "" "" "" "c.(?-50)_(*7088+?)del" "r.0" "p.0" "2" "0000128629" "00009867" "70" "3148" "0" "3148" "0" "c.3148G>A" "r.3148g>a" "p.Glu1050Lys" "16" "0000128630" "00009867" "70" "3148" "0" "3148" "0" "c.3148G>A" "r.c.3148g>a" "p.Glu1050Lys" "16" "0000128638" "00009867" "70" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Arg138Gln)" "2" "0000128660" "00009867" "30" "2298" "0" "2298" "0" "c.2298C>T" "r.(?)" "p.(=)" "11" "0000128661" "00009867" "30" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "1" "0000128662" "00009867" "30" "699" "0" "699" "0" "c.699C>T" "r.(?)" "p.(Pro204=)" "3" "0000128663" "00009867" "30" "3129" "0" "3129" "0" "c.3129G>A" "r.(?)" "p.(=)" "16" "0000128664" "00009867" "30" "4038" "0" "4038" "0" "c.4038C>T" "r.(?)" "p.(=)" "21" "0000128665" "00009867" "30" "2783" "-53" "2783" "-53" "c.2783-53C>T" "r.(=)" "p.(=)" "13i" "0000128666" "00009867" "30" "2956" "72" "2956" "72" "c.2956+72A>G" "r.(=)" "p.(=)" "15i" "0000128667" "00009867" "30" "3723" "-34" "3723" "-34" "c.3723-34G>A" "r.(=)" "p.(=)" "20i" "0000128726" "00009867" "90" "1886" "0" "1886" "0" "c.1886T>A" "r.(?)" "p.(Val629Glu)" "9" "0000128773" "00009867" "70" "435" "0" "435" "0" "c.435A>C" "r.(?)" "p.(Lys145Asn)" "2" "0000129158" "00009867" "50" "-1" "0" "4105" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "" "0000129159" "00009867" "50" "95" "-1" "4105" "0" "c.(?_95-1)_(*1_?)del" "r.0?" "p.0?" "" "0000253889" "00009867" "10" "2782" "21" "2782" "21" "c.2782+21A>C" "r.(=)" "p.(=)" "" "0000255932" "00009867" "50" "2084" "0" "2084" "0" "c.2084A>T" "r.(?)" "p.(Glu695Val)" "" "0000256119" "00009867" "50" "2601" "0" "2601" "0" "c.2601A>G" "r.(?)" "p.(Ile867Met)" "" "0000289484" "00009867" "10" "1102" "27" "1102" "27" "c.1102+27C>T" "r.(=)" "p.(=)" "" "0000289485" "00009867" "30" "1194" "0" "1194" "0" "c.1194C>T" "r.(?)" "p.(Ser398=)" "" "0000289486" "00009867" "10" "1462" "15" "1462" "15" "c.1462+15C>G" "r.(=)" "p.(=)" "" "0000289487" "00009867" "50" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511Gln)" "" "0000289488" "00009867" "10" "1590" "-20" "1590" "-20" "c.1590-20T>C" "r.(=)" "p.(=)" "" "0000289489" "00009867" "10" "1686" "0" "1686" "0" "c.1686G>A" "r.(?)" "p.(Val562=)" "" "0000289490" "00009867" "30" "1914" "0" "1914" "0" "c.1914C>T" "r.(?)" "p.(Asn638=)" "" "0000289491" "00009867" "10" "1949" "0" "1949" "0" "c.1949G>A" "r.(?)" "p.(Arg650Gln)" "" "0000289492" "00009867" "30" "1950" "0" "1950" "0" "c.1950G>T" "r.(?)" "p.(Arg650=)" "" "0000289493" "00009867" "10" "1996" "25" "1996" "25" "c.1996+25C>T" "r.(=)" "p.(=)" "" "0000289495" "00009867" "90" "2622" "2" "2622" "2" "c.2622+2T>G" "r.spl?" "p.?" "" "0000289496" "00009867" "10" "2782" "17" "2782" "17" "c.2782+17G>A" "r.(=)" "p.(=)" "" "0000289497" "00009867" "10" "2782" "30" "2782" "31" "c.2782+30_2782+31del" "r.(=)" "p.(=)" "" "0000289499" "00009867" "10" "3129" "0" "3129" "0" "c.3129G>A" "r.(?)" "p.(Glu1043=)" "" "0000289500" "00009867" "10" "3187" "-5" "3187" "-5" "c.3187-5C>T" "r.spl?" "p.?" "" "0000289501" "00009867" "10" "3297" "58" "3297" "58" "c.3297+58T>C" "r.(=)" "p.(=)" "" "0000289502" "00009867" "10" "3297" "65" "3297" "66" "c.3297+65_3297+66del" "r.(=)" "p.(=)" "" "0000289503" "00009867" "50" "3298" "-27" "3298" "-26" "c.3298-27_3298-26del" "r.(=)" "p.(=)" "" "0000289504" "00009867" "10" "3723" "-24" "3723" "-24" "c.3723-24C>A" "r.(=)" "p.(=)" "" "0000289505" "00009867" "10" "4038" "0" "4038" "0" "c.4038C>T" "r.(?)" "p.(Tyr1346=)" "" "0000289506" "00009867" "50" "473" "0" "473" "0" "c.473C>G" "r.(?)" "p.(Ser158Cys)" "" "0000289507" "00009867" "10" "640" "20" "640" "20" "c.640+20C>T" "r.(=)" "p.(=)" "" "0000289508" "00009867" "10" "903" "0" "903" "0" "c.903C>A" "r.(?)" "p.(Gly301=)" "" "0000345137" "00009867" "50" "431" "0" "431" "0" "c.431A>G" "r.(?)" "p.(Glu144Gly)" "" "0000556327" "00009867" "50" "71" "0" "71" "0" "c.71C>G" "r.(?)" "p.(Ser24Trp)" "" "0000556328" "00009867" "30" "78" "0" "78" "0" "c.78G>T" "r.(?)" "p.(Trp26Cys)" "" "0000556329" "00009867" "30" "94" "14" "94" "14" "c.94+14C>T" "r.(=)" "p.(=)" "" "0000556330" "00009867" "30" "189" "0" "189" "0" "c.189C>T" "r.(?)" "p.(Leu63=)" "" "0000556331" "00009867" "50" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Arg71His)" "" "0000556332" "00009867" "10" "225" "0" "225" "0" "c.225C>T" "r.(?)" "p.(Phe75=)" "" "0000556333" "00009867" "30" "237" "0" "237" "0" "c.237G>A" "r.(?)" "p.(Thr79=)" "" "0000556334" "00009867" "30" "568" "0" "568" "0" "c.568C>T" "r.(?)" "p.(Pro190Ser)" "" "0000556335" "00009867" "30" "641" "-14" "641" "-14" "c.641-14C>T" "r.(=)" "p.(=)" "" "0000556336" "00009867" "50" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(Arg222Trp)" "" "0000556337" "00009867" "30" "675" "0" "675" "0" "c.675C>T" "r.(?)" "p.(Thr225=)" "" "0000556338" "00009867" "30" "807" "0" "807" "0" "c.807C>T" "r.(?)" "p.(Tyr269=)" "" "0000556339" "00009867" "50" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Cys)" "" "0000556340" "00009867" "30" "846" "0" "846" "0" "c.846C>T" "r.(?)" "p.(Cys282=)" "" "0000556341" "00009867" "50" "850" "0" "850" "0" "c.850A>T" "r.(?)" "p.(Asn284Tyr)" "" "0000556342" "00009867" "10" "864" "0" "864" "0" "c.864C>T" "r.(?)" "p.(Ala288=)" "" "0000556343" "00009867" "30" "898" "0" "898" "0" "c.898G>A" "r.(?)" "p.(Asp300Asn)" "" "0000556344" "00009867" "10" "903" "0" "903" "0" "c.903C>A" "r.(?)" "p.(Gly301=)" "" "0000556345" "00009867" "30" "943" "0" "943" "0" "c.943G>A" "r.(?)" "p.(Gly315Ser)" "" "0000556346" "00009867" "30" "1103" "-17" "1103" "-17" "c.1103-17A>G" "r.(=)" "p.(=)" "" "0000556347" "00009867" "50" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000556348" "00009867" "30" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000556349" "00009867" "50" "1270" "0" "1270" "0" "c.1270G>A" "r.(?)" "p.(Asp424Asn)" "" "0000556350" "00009867" "30" "1310" "0" "1310" "0" "c.1310G>A" "r.(?)" "p.(Arg437His)" "" "0000556351" "00009867" "30" "1336" "0" "1336" "0" "c.1336A>G" "r.(?)" "p.(Met446Val)" "" "0000556352" "00009867" "10" "1462" "15" "1462" "15" "c.1462+15C>G" "r.(=)" "p.(=)" "" "0000556353" "00009867" "10" "1463" "-5" "1463" "-5" "c.1463-5C>A" "r.spl?" "p.?" "" "0000556354" "00009867" "30" "1474" "0" "1474" "0" "c.1474G>A" "r.(?)" "p.(Val492Ile)" "" "0000556355" "00009867" "30" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511Gln)" "" "0000556356" "00009867" "30" "1632" "0" "1632" "0" "c.1632C>T" "r.(?)" "p.(Cys544=)" "" "0000556357" "00009867" "30" "1686" "0" "1686" "0" "c.1686G>A" "r.(?)" "p.(Val562=)" "" "0000556358" "00009867" "50" "1784" "0" "1784" "0" "c.1784G>A" "r.(?)" "p.(Arg595His)" "" "0000556359" "00009867" "30" "1914" "0" "1914" "0" "c.1914C>T" "r.(?)" "p.(Asn638=)" "" "0000556360" "00009867" "10" "1950" "0" "1950" "0" "c.1950G>T" "r.(?)" "p.(Arg650=)" "" "0000556361" "00009867" "50" "2101" "0" "2101" "0" "c.2101G>A" "r.(?)" "p.(Ala701Thr)" "" "0000556362" "00009867" "30" "2202" "-16" "2202" "-16" "c.2202-16T>G" "r.(=)" "p.(=)" "" "0000556363" "00009867" "10" "2486" "-81" "2486" "-80" "c.2486-81_2486-80insA" "r.(=)" "p.(=)" "" "0000556364" "00009867" "30" "2570" "0" "2570" "0" "c.2570A>G" "r.(?)" "p.(Asn857Ser)" "" "0000556365" "00009867" "30" "2694" "0" "2694" "0" "c.2694G>A" "r.(?)" "p.(Pro898=)" "" "0000556366" "00009867" "30" "2700" "0" "2700" "0" "c.2700C>T" "r.(?)" "p.(Asn900=)" "" "0000556367" "00009867" "30" "2723" "0" "2723" "0" "c.2723C>T" "r.(?)" "p.(Thr908Ile)" "" "0000556368" "00009867" "30" "2782" "6" "2782" "6" "c.2782+6del" "r.(=)" "p.(=)" "" "0000556369" "00009867" "30" "2782" "17" "2782" "17" "c.2782+17G>A" "r.(=)" "p.(=)" "" "0000556370" "00009867" "30" "2782" "17" "2782" "17" "c.2782+17G>A" "r.(=)" "p.(=)" "" "0000556371" "00009867" "70" "2882" "0" "2882" "0" "c.2882dup" "r.(?)" "p.(Arg962GlufsTer3)" "" "0000556372" "00009867" "30" "2885" "15" "2885" "15" "c.2885+15A>G" "r.(=)" "p.(=)" "" "0000556373" "00009867" "30" "3414" "0" "3414" "0" "c.3414C>T" "r.(?)" "p.(Ala1138=)" "" "0000556374" "00009867" "30" "3435" "0" "3435" "0" "c.3435A>C" "r.(?)" "p.(Glu1145Asp)" "" "0000556375" "00009867" "30" "3477" "0" "3477" "0" "c.3477T>C" "r.(?)" "p.(Asp1159=)" "" "0000556376" "00009867" "30" "3594" "0" "3594" "0" "c.3594C>T" "r.(?)" "p.(Phe1198=)" "" "0000556377" "00009867" "50" "3685" "0" "3685" "0" "c.3685G>A" "r.(?)" "p.(Gly1229Ser)" "" "0000556378" "00009867" "50" "3722" "4" "3722" "4" "c.3722+4C>T" "r.spl?" "p.?" "" "0000556379" "00009867" "70" "3722" "5" "3722" "5" "c.3722+5G>A" "r.spl?" "p.?" "" "0000556380" "00009867" "50" "3904" "0" "3904" "0" "c.3904A>T" "r.(?)" "p.(Ser1302Cys)" "" "0000556381" "00009867" "30" "3918" "0" "3918" "0" "c.3918C>T" "r.(?)" "p.(Asp1306=)" "" "0000556382" "00009867" "50" "4058" "0" "4058" "0" "c.4058G>A" "r.(?)" "p.(Arg1353His)" "" "0000556383" "00009867" "50" "4066" "0" "4066" "0" "c.4066G>A" "r.(?)" "p.(Glu1356Lys)" "" "0000556384" "00009867" "50" "4069" "0" "4069" "0" "c.4069C>T" "r.(?)" "p.(Arg1357Trp)" "" "0000556385" "00009867" "30" "4096" "0" "4096" "0" "c.4096A>C" "r.(?)" "p.(Thr1366Pro)" "" "0000556386" "00009867" "50" "15351" "0" "15351" "0" "c.*11247C>G" "r.(=)" "p.(=)" "" "0000615665" "00009867" "30" "84" "0" "84" "0" "c.84G>A" "r.(?)" "p.(Thr28=)" "" "0000615666" "00009867" "70" "1074" "0" "1074" "0" "c.1074C>T" "r.(?)" "p.(Gly358=)" "" "0000615668" "00009867" "50" "2156" "0" "2156" "0" "c.2156G>A" "r.(?)" "p.(Arg719His)" "" "0000615669" "00009867" "30" "2202" "-16" "2202" "-16" "c.2202-16T>G" "r.(=)" "p.(=)" "" "0000615670" "00009867" "30" "2537" "0" "2537" "0" "c.2537A>G" "r.(?)" "p.(Asn846Ser)" "" "0000624859" "00009867" "90" "1161" "0" "1161" "0" "c.1161C>A" "r.(?)" "p.(Tyr387*)" "" "0000649206" "00009867" "30" "903" "0" "903" "0" "c.903C>A" "r.(=)" "p.(=)" "" "0000649207" "00009867" "30" "7437" "0" "7437" "0" "c.*3333G>A" "r.(=)" "p.(=)" "" "0000657711" "00009867" "50" "1502" "0" "1502" "0" "c.1502C>G" "r.(?)" "p.(Ser501Trp)" "" "0000669303" "00009867" "30" "903" "0" "903" "0" "c.903C>A" "r.(=)" "p.(=)" "" "0000669304" "00009867" "30" "7437" "0" "7437" "0" "c.*3333G>A" "r.(=)" "p.(=)" "" "0000680350" "00009867" "50" "1045" "0" "1045" "0" "c.1045A>G" "r.(?)" "p.(Met349Val)" "" "0000680351" "00009867" "30" "1336" "0" "1336" "0" "c.1336A>G" "r.(?)" "p.(Met446Val)" "" "0000680352" "00009867" "50" "3324" "0" "3324" "0" "c.3324C>A" "r.(?)" "p.(Ser1108Arg)" "" "0000691919" "00009867" "30" "237" "0" "237" "0" "c.237G>A" "r.(?)" "p.(Thr79=)" "" "0000691921" "00009867" "30" "2403" "0" "2403" "0" "c.2403C>T" "r.(?)" "p.(Ile801=)" "" "0000691922" "00009867" "30" "3453" "0" "3453" "0" "c.3453C>T" "r.(?)" "p.(Ile1151=)" "" "0000691923" "00009867" "50" "4058" "0" "4058" "0" "c.4058G>A" "r.(?)" "p.(Arg1353His)" "" "0000725399" "00009867" "50" "772" "0" "772" "0" "c.772G>A" "r.(?)" "p.(Gly258Ser)" "" "0000725400" "00009867" "50" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Arg366Trp)" "" "0000725401" "00009867" "90" "1590" "-1" "1590" "-1" "c.1590-1G>C" "r.spl?" "p.?" "" "0000725402" "00009867" "30" "2274" "0" "2274" "0" "c.2274G>A" "r.(?)" "p.(Thr758=)" "" "0000725403" "00009867" "90" "2485" "0" "2485" "0" "c.2485G>T" "r.(?)" "p.(Glu829*)" "" "0000725404" "00009867" "50" "4010" "0" "4010" "0" "c.4010G>A" "r.(?)" "p.(Arg1337His)" "" "0000807026" "00009867" "50" "46" "0" "46" "0" "c.46C>T" "r.(?)" "p.(Leu16Phe)" "" "0000807027" "00009867" "30" "1336" "0" "1336" "0" "c.1336A>G" "r.(?)" "p.(Met446Val)" "" "0000807028" "00009867" "50" "1546" "0" "1546" "0" "c.1546G>T" "r.(?)" "p.(Asp516Tyr)" "" "0000807029" "00009867" "30" "1784" "0" "1784" "0" "c.1784G>A" "r.(?)" "p.(Arg595His)" "" "0000807030" "00009867" "30" "2784" "0" "2784" "0" "c.2784A>G" "r.(?)" "p.(Thr928=)" "" "0000807031" "00009867" "30" "2814" "0" "2814" "0" "c.2814C>T" "r.(?)" "p.(Ile938=)" "" "0000807032" "00009867" "50" "2864" "0" "2864" "0" "c.2864T>G" "r.(?)" "p.(Leu955Arg)" "" "0000831173" "00009867" "30" "3723" "-24" "3723" "-24" "c.3723-24C>A" "r.(?)" "p.(?)" "" "0000841603" "00009867" "50" "2240" "0" "2240" "0" "c.2240A>G" "r.(?)" "p.(Asn747Ser)" "" "0000846762" "00009867" "90" "2128" "0" "2139" "0" "c.2128_2139del" "r.(?)" "p.(Gln710_Lys713del)" "" "0000864207" "00009867" "30" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Gly6Arg)" "" "0000864208" "00009867" "30" "29" "0" "29" "0" "c.29C>G" "r.(?)" "p.(Pro10Arg)" "" "0000864209" "00009867" "30" "84" "0" "84" "0" "c.84G>A" "r.(?)" "p.(Thr28=)" "" "0000864210" "00009867" "50" "142" "0" "142" "0" "c.142C>T" "r.(?)" "p.(Arg48Cys)" "" "0000864211" "00009867" "50" "265" "0" "265" "0" "c.265C>G" "r.(?)" "p.(Arg89Gly)" "" "0000864212" "00009867" "30" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Glu94Lys)" "" "0000864213" "00009867" "10" "402" "0" "402" "0" "c.402G>A" "r.(?)" "p.(Arg134=)" "" "0000864214" "00009867" "30" "570" "0" "570" "0" "c.570G>T" "r.(?)" "p.(Pro190=)" "" "0000864215" "00009867" "30" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(Thr246Met)" "" "0000864216" "00009867" "50" "764" "0" "764" "0" "c.764A>G" "r.(?)" "p.(Tyr255Cys)" "" "0000864217" "00009867" "10" "885" "0" "885" "0" "c.885G>A" "r.(?)" "p.(Gly295=)" "" "0000864218" "00009867" "30" "942" "0" "942" "0" "c.942C>T" "r.(?)" "p.(Asn314=)" "" "0000864219" "00009867" "30" "954" "-13" "954" "-13" "c.954-13del" "r.(=)" "p.(=)" "" "0000864220" "00009867" "30" "987" "0" "987" "0" "c.987G>A" "r.(?)" "p.(Pro329=)" "" "0000864221" "00009867" "30" "1055" "0" "1055" "0" "c.1055G>A" "r.(?)" "p.(Gly352Glu)" "" "0000864222" "00009867" "50" "1157" "0" "1157" "0" "c.1157G>T" "r.(?)" "p.(Gly386Val)" "" "0000864223" "00009867" "30" "1194" "0" "1194" "0" "c.1194C>T" "r.(?)" "p.(Ser398=)" "" "0000864224" "00009867" "30" "1212" "0" "1212" "0" "c.1212C>T" "r.(?)" "p.(Asn404=)" "" "0000864225" "00009867" "50" "1217" "0" "1217" "0" "c.1217G>A" "r.(?)" "p.(Arg406His)" "" "0000864226" "00009867" "30" "1452" "0" "1452" "0" "c.1452G>A" "r.(?)" "p.(Glu484=)" "" "0000864227" "00009867" "30" "1473" "0" "1473" "0" "c.1473C>T" "r.(?)" "p.(Asp491=)" "" "0000864228" "00009867" "30" "1502" "0" "1502" "0" "c.1502C>T" "r.(?)" "p.(Ser501Leu)" "" "0000864229" "00009867" "30" "1503" "0" "1503" "0" "c.1503G>A" "r.(?)" "p.(Ser501=)" "" "0000864230" "00009867" "30" "1572" "0" "1572" "0" "c.1572C>T" "r.(?)" "p.(Thr524=)" "" "0000864231" "00009867" "30" "1589" "17" "1589" "17" "c.1589+17G>A" "r.(=)" "p.(=)" "" "0000864232" "00009867" "30" "1590" "-17" "1590" "-17" "c.1590-17A>G" "r.(=)" "p.(=)" "" "0000864233" "00009867" "30" "1713" "0" "1713" "0" "c.1713G>A" "r.(?)" "p.(Leu571=)" "" "0000864234" "00009867" "30" "1804" "0" "1804" "0" "c.1804T>C" "r.(?)" "p.(Leu602=)" "" "0000864235" "00009867" "30" "1940" "0" "1940" "0" "c.1940G>A" "r.(?)" "p.(Arg647His)" "" "0000864236" "00009867" "10" "1949" "0" "1949" "0" "c.1949G>A" "r.(?)" "p.(Arg650Gln)" "" "0000864237" "00009867" "30" "2202" "-13" "2202" "-13" "c.2202-13C>A" "r.(=)" "p.(=)" "" "0000864238" "00009867" "30" "2238" "0" "2238" "0" "c.2238C>A" "r.(?)" "p.(Ala746=)" "" "0000864239" "00009867" "50" "2258" "0" "2258" "0" "c.2258G>A" "r.(?)" "p.(Arg753Gln)" "" "0000864240" "00009867" "30" "2276" "0" "2276" "0" "c.2276C>G" "r.(?)" "p.(Ala759Gly)" "" "0000864241" "00009867" "30" "2278" "0" "2278" "0" "c.2278G>A" "r.(?)" "p.(Ala760Thr)" "" "0000864242" "00009867" "30" "2391" "0" "2391" "0" "c.2391A>G" "r.(?)" "p.(Thr797=)" "" "0000864243" "00009867" "30" "2449" "0" "2449" "0" "c.2449G>A" "r.(?)" "p.(Ala817Thr)" "" "0000864244" "00009867" "30" "2524" "0" "2524" "0" "c.2524C>T" "r.(?)" "p.(Pro842Ser)" "" "0000864245" "00009867" "30" "2558" "0" "2558" "0" "c.2558C>T" "r.(?)" "p.(Pro853Leu)" "" "0000864246" "00009867" "30" "2607" "0" "2607" "0" "c.2607C>T" "r.(?)" "p.(Tyr869=)" "" "0000864247" "00009867" "30" "2709" "0" "2709" "0" "c.2709C>T" "r.(?)" "p.(Ala903=)" "" "0000864248" "00009867" "30" "2763" "0" "2763" "0" "c.2763C>G" "r.(?)" "p.(Phe921Leu)" "" "0000864249" "00009867" "30" "2782" "11" "2782" "11" "c.2782+11T>G" "r.(=)" "p.(=)" "" "0000864250" "00009867" "50" "2842" "0" "2842" "0" "c.2842G>A" "r.(?)" "p.(Val948Met)" "" "0000864251" "00009867" "30" "2844" "0" "2844" "0" "c.2844G>C" "r.(?)" "p.(Val948=)" "" "0000864252" "00009867" "30" "2888" "0" "2888" "0" "c.2888A>G" "r.(?)" "p.(Asn963Ser)" "" "0000864253" "00009867" "30" "2895" "0" "2895" "0" "c.2895C>T" "r.(?)" "p.(Ser965=)" "" "0000864254" "00009867" "50" "2958" "0" "2958" "0" "c.2958G>A" "r.(?)" "p.(Val986=)" "" "0000864255" "00009867" "30" "3108" "0" "3108" "0" "c.3108C>T" "r.(?)" "p.(Asn1036=)" "" "0000864256" "00009867" "30" "3187" "-5" "3187" "-5" "c.3187-5C>T" "r.spl?" "p.?" "" "0000864257" "00009867" "30" "3187" "-5" "3187" "-5" "c.3187-5C>T" "r.spl?" "p.?" "" "0000864258" "00009867" "30" "3298" "-9" "3298" "-9" "c.3298-9C>G" "r.(=)" "p.(=)" "" "0000864259" "00009867" "50" "3469" "0" "3469" "0" "c.3469A>C" "r.(?)" "p.(Thr1157Pro)" "" "0000864260" "00009867" "50" "3499" "0" "3499" "0" "c.3499C>T" "r.(?)" "p.(Arg1167Trp)" "" "0000864261" "00009867" "30" "3582" "0" "3582" "0" "c.3582C>T" "r.(?)" "p.(Asp1194=)" "" "0000864262" "00009867" "30" "3723" "-4" "3723" "-4" "c.3723-4G>A" "r.spl?" "p.?" "" "0000864263" "00009867" "30" "3814" "0" "3814" "0" "c.3814C>T" "r.(?)" "p.(Pro1272Ser)" "" "0000864264" "00009867" "50" "3865" "0" "3865" "0" "c.3865G>A" "r.(?)" "p.(Glu1289Lys)" "" "0000864265" "00009867" "50" "3869" "0" "3869" "0" "c.3869C>T" "r.(?)" "p.(Pro1290Leu)" "" "0000864266" "00009867" "30" "3873" "0" "3873" "0" "c.3873G>A" "r.(?)" "p.(Glu1291=)" "" "0000864267" "00009867" "30" "3933" "0" "3933" "0" "c.3933G>A" "r.(?)" "p.(Ser1311=)" "" "0000864268" "00009867" "50" "3948" "0" "3948" "0" "c.3948G>T" "r.(?)" "p.(Leu1316=)" "" "0000864269" "00009867" "30" "3975" "0" "3975" "0" "c.3975C>T" "r.(?)" "p.(Ala1325=)" "" "0000864270" "00009867" "30" "3990" "0" "3990" "0" "c.3990C>G" "r.(?)" "p.(Gly1330=)" "" "0000864271" "00009867" "30" "4009" "0" "4009" "0" "c.4009C>T" "r.(?)" "p.(Arg1337Cys)" "" "0000864272" "00009867" "30" "4080" "0" "4080" "0" "c.4080G>A" "r.(?)" "p.(Pro1360=)" "" "0000864273" "00009867" "50" "4087" "0" "4087" "0" "c.4087C>T" "r.(?)" "p.(Gln1363*)" "" "0000868117" "00009867" "30" "3251" "0" "3251" "0" "c.3251G>A" "r.(?)" "p.(Arg1084Gln)" "" "0000868331" "00009867" "70" "1166" "0" "1171" "0" "c.1166_1171delinsCGG" "r.(?)" "p.(Lys389_Arg391delinsThrGly)" "" "0000877163" "00009867" "90" "2629" "0" "2629" "0" "c.2629C>T" "r.(?)" "p.(Arg877Ter)" "" "0000892456" "00009867" "50" "71" "0" "71" "0" "c.71C>G" "r.(?)" "p.(Ser24Trp)" "" "0000892457" "00009867" "50" "83" "0" "83" "0" "c.83C>T" "r.(?)" "p.(Thr28Met)" "" "0000892458" "00009867" "50" "395" "0" "395" "0" "c.395A>G" "r.(?)" "p.(Asn132Ser)" "" "0000892459" "00009867" "50" "812" "0" "812" "0" "c.812T>C" "r.(?)" "p.(Phe271Ser)" "" "0000892460" "00009867" "30" "885" "0" "885" "0" "c.885G>T" "r.(?)" "p.(Gly295=)" "" "0000892461" "00009867" "30" "897" "0" "897" "0" "c.897C>T" "r.(?)" "p.(His299=)" "" "0000892462" "00009867" "30" "953" "18" "953" "18" "c.953+18G>A" "r.(=)" "p.(=)" "" "0000892463" "00009867" "30" "954" "-18" "954" "-18" "c.954-18T>C" "r.(=)" "p.(=)" "" "0000892464" "00009867" "30" "1247" "3" "1247" "3" "c.1247+3A>G" "r.spl?" "p.?" "" "0000892465" "00009867" "30" "1500" "0" "1500" "0" "c.1500G>A" "r.(?)" "p.(Thr500=)" "" "0000892466" "00009867" "50" "1679" "0" "1679" "0" "c.1679A>G" "r.(?)" "p.(Lys560Arg)" "" "0000892467" "00009867" "50" "2078" "0" "2078" "0" "c.2078G>A" "r.(?)" "p.(Gly693Asp)" "" "0000892468" "00009867" "30" "2148" "0" "2148" "0" "c.2148T>A" "r.(?)" "p.(Ala716=)" "" "0000892469" "00009867" "50" "2201" "3" "2201" "3" "c.2201+3A>G" "r.spl?" "p.?" "" "0000892470" "00009867" "30" "2537" "0" "2537" "0" "c.2537A>G" "r.(?)" "p.(Asn846Ser)" "" "0000892471" "00009867" "30" "2537" "0" "2537" "0" "c.2537A>G" "r.(?)" "p.(Asn846Ser)" "" "0000892472" "00009867" "50" "2601" "0" "2601" "0" "c.2601A>G" "r.(?)" "p.(Ile867Met)" "" "0000892473" "00009867" "30" "2782" "9" "2782" "9" "c.2782+9dup" "r.(=)" "p.(=)" "" "0000892474" "00009867" "30" "3297" "20" "3297" "20" "c.3297+20G>T" "r.(=)" "p.(=)" "" "0000892475" "00009867" "30" "3298" "-6" "3298" "-6" "c.3298-6C>T" "r.(=)" "p.(=)" "" "0000892476" "00009867" "30" "3906" "0" "3906" "0" "c.3906C>T" "r.(?)" "p.(Ser1302=)" "" "0000892477" "00009867" "30" "3907" "0" "3907" "0" "c.3907G>A" "r.(?)" "p.(Val1303Ile)" "" "0000892478" "00009867" "30" "3925" "0" "3925" "0" "c.3925G>A" "r.(?)" "p.(Ala1309Thr)" "" "0000892479" "00009867" "30" "3987" "0" "3987" "0" "c.3987C>T" "r.(?)" "p.(Pro1329=)" "" "0000903258" "00009867" "70" "3530" "0" "3530" "0" "c.3530G>A" "r.(?)" "p.(Arg1177His)" "" "0000905093" "00009867" "30" "3872" "0" "3872" "0" "c.3872A>G" "r.(?)" "p.(Glu1291Gly)" "" "0000905146" "00009867" "70" "3454" "0" "3454" "0" "c.3454G>A" "r.(?)" "p.(Gly1152Arg)" "" "0000905239" "00009867" "70" "1401" "0" "1401" "0" "c.1401dup" "r.(?)" "p.(Thr468AspfsTer2)" "" "0000905840" "00009867" "90" "3190" "0" "3190" "0" "c.3190C>T" "r.(?)" "p.(Arg1064Ter)" "" "0000907880" "00009867" "50" "3251" "0" "3251" "0" "c.3251G>A" "r.(?)" "p.(Arg1084Gln)" "" "0000907882" "00009867" "50" "761" "0" "761" "0" "c.761A>T" "r.(?)" "p.(Tyr254Phe)" "" "0000909974" "00009867" "70" "3988" "0" "3988" "0" "c.3988G>A" "r.(?)" "p.(Gly1330Ser)" "" "0000914435" "00009867" "30" "873" "0" "873" "0" "c.873C>T" "r.(?)" "p.(Ser291=)" "" "0000914436" "00009867" "50" "1589" "4" "1589" "4" "c.1589+4A>G" "r.spl?" "p.?" "" "0000914437" "00009867" "50" "2111" "0" "2111" "0" "c.2111A>G" "r.(?)" "p.(Lys704Arg)" "" "0000914438" "00009867" "70" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Lys720Glu)" "" "0000914439" "00009867" "30" "3255" "0" "3255" "0" "c.3255C>T" "r.(?)" "p.(Gly1085=)" "" "0000914440" "00009867" "50" "3565" "0" "3565" "0" "c.3565T>C" "r.(?)" "p.(Phe1189Leu)" "" "0000914441" "00009867" "50" "3626" "0" "3626" "0" "c.3626C>G" "r.(?)" "p.(Ala1209Gly)" "" "0000914442" "00009867" "50" "3721" "0" "3721" "0" "c.3721C>T" "r.(?)" "p.(Leu1241=)" "" "0000914443" "00009867" "30" "3950" "0" "3950" "0" "c.3950C>G" "r.(?)" "p.(Pro1317Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{variantid}}" "0000046442" "0000074016" "0000047933" "0000076670" "0000079833" "0000128616" "0000079834" "0000128617" "0000079835" "0000128618" "0000079836" "0000128619" "0000079837" "0000128620" "0000079838" "0000128621" "0000079840" "0000128623" "0000079843" "0000128626" "0000079845" "0000128628" "0000079846" "0000128629" "0000079847" "0000128630" "0000079855" "0000128638" "0000079855" "0000128773" "0000079877" "0000128660" "0000079878" "0000128661" "0000079879" "0000128662" "0000079880" "0000128663" "0000079881" "0000128664" "0000079882" "0000128665" "0000079883" "0000128666" "0000079884" "0000128667" "0000079943" "0000128726" "0000080209" "0000129158" "0000080210" "0000129159" "0000271019" "0000624859" "0000292517" "0000649206" "0000292518" "0000649207" "0000305615" "0000669303" "0000305616" "0000669304" "0000420007" "0000909974"