### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RECQL4) # 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}}" "RECQL4" "RecQ protein-like 4" "8" "q24.3" "unknown" "NG_016430.1" "UD_135393217334" "{PMID:Siitonen 2003:12952869}, {PMID:Croteau 2012:22885111}" "https://www.LOVD.nl/RECQL4" "" "1" "9949" "9401" "603780" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.\r\n\r\nThis database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015." "" "g" "https://databases.lovd.nl/shared/refseq/RECQL4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2019-07-21 20:37:27" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00001769" "RECQL4" "RecQ protein-like 4" "001" "NM_004260.3" "" "NP_004251.3" "" "" "" "-42" "3775" "3628" "145743210" "145736667" "00001" "2012-11-20 16:08:59" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00052" "BGS" "Baller-Gerold syndrome (BGS)" "AR" "218600" "" "" "" "00008" "2012-08-31 10:06:44" "00006" "2021-12-10 21:51:32" "00053" "RAPADILINO" "RAPADILINO syndrome" "AR" "266280" "" "" "" "00008" "2012-08-31 10:07:24" "00006" "2021-12-10 21:51:32" "00054" "RTS2" "Rothmund-Thomson syndrome, type 2," "AR" "268400" "" "" "" "00008" "2012-08-31 10:08:34" "00006" "2021-12-10 21:51:32" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04296" "MINAS" "neoplasia, multiple inherited alleles (MINAS)" "AD;AR;SMo" "" "" "" "" "00006" "2015-07-02 09:20:44" "00006" "2021-12-10 21:51:32" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "RECQL4" "00052" "RECQL4" "00053" "RECQL4" "00054" ## Individuals ## Do not remove or alter this header ## ## Count = 49 "{{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}}" "00000344" "" "" "" "1" "" "00001" "" "carrier father/mother" "M" "" "" "" "" "" "" "Mexican" "" "00000345" "" "" "" "1" "" "00001" "" "carrier father/mother" "F" "" "" "" "" "" "" "Mexican" "" "00000346" "" "" "" "1" "" "00001" "" "" "?" "" "" "" "" "" "" "European" "" "00004160" "" "" "" "1" "" "00571" "{PMID:Colombo 2014:24518840}, {DOI:Colombo 2014:10.1038/ejhg.2014.18}" "" "F" "no" "Italy" "" "0" "" "" "" "" "00049848" "" "" "" "1" "" "01389" "" "" "M" "no" "Switzerland" ">17y" "0" "" "" "Cacasian" "" "00049865" "" "" "" "1" "" "01389" "" "" "F" "no" "Denmark" ">44y" "0" "" "" "white" "" "00049866" "" "" "" "1" "" "01389" "" "" "M" "no" "(United Kingdom (Great Britain))" ">13y" "0" "" "" "white" "" "00049867" "" "" "" "1" "" "01389" "" "" "F" "no" "United Kingdom (Great Britain)" ">09y" "0" "" "" "white" "" "00049868" "" "" "" "1" "" "01389" "" "" "M" "no" "(Switzerland)" ">08y" "0" "" "" "white" "" "00049869" "" "" "" "1" "" "01389" "" "" "F" "no" "Greece" ">11y" "0" "" "" "white" "" "00049870" "" "" "" "1" "" "01389" "" "" "M" "yes" "(Spain)" ">05y" "0" "" "" "" "" "00049871" "" "" "" "1" "" "01389" "" "" "M" "no" "(Germany)" ">12y" "0" "" "" "white" "" "00049872" "" "" "" "1" "" "01389" "" "" "F" "no" "United Kingdom (Great Britain)" ">13y" "0" "" "" "white" "" "00049873" "" "" "" "1" "" "01389" "" "" "M" "no" "France" ">16y" "0" "" "" "white" "" "00049880" "" "" "" "1" "" "01389" "" "" "M" "no" "Australia" ">04y" "0" "" "" "white" "" "00049884" "" "" "" "1" "" "01389" "" "" "F" "?" "(Ireland)" ">08y" "0" "" "" "white" "" "00049885" "" "" "" "1" "" "01389" "" "" "M" "no" "Netherlands" ">27y" "0" "" "" "white" "" "00050652" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00080908" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "no information from parents" "" "" "" "" "0" "" "" "" "" "00132285" "" "" "" "2" "" "02283" "" "affected" "F" "no" "China" "05y06m" "0" "" "" "Asian" "" "00132286" "" "" "00132285" "1" "" "02283" "" "affected" "F" "no" "China" "00y10m" "0" "" "" "Asian" "" "00132288" "" "" "" "1" "" "02283" "" "affected" "M" "no" "China" "04y06m" "0" "" "" "Asian" "" "00154496" "" "" "" "1" "" "00571" "" "" "M" "?" "Ecuador" ">19y" "0" "" "" "" "" "00154499" "" "" "" "2" "" "00571" "" "" "F" "no" "Italy" ">32y" "0" "" "" "" "" "00154500" "" "" "" "1" "" "00571" "" "" "M" "yes" "Turkey" ">16y" "0" "" "" "" "" "00154501" "" "" "" "1" "" "00571" "" "" "F" "?" "(Belgium)" ">38y" "0" "" "" "" "" "00246562" "" "" "" "1" "" "00643" "{PMID:Fostira 2020:31300551}" "" "" "" "Greece" "" "0" "" "" "" "" "00294596" "" "" "" "24" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294597" "" "" "" "27" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294598" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294599" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294600" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294601" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295585" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00296566" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00305185" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00385532" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "17026533" "00399242" "" "" "" "1" "" "00006" "{PMID:Martin 2017:29220673}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "" "" "0" "" "" "" "Pat1" "00406992" "" "" "" "2" "" "00006" "{PMID:Jiang 2022:33563768}" "analysis 486 colorectal cancer patients" "" "" "China" "" "0" "" "" "" "" "00414527" "" "" "" "1" "" "00103" "" "" "F" "" "Spain" "" "" "" "" "" "" "00414528" "" "" "" "1" "" "00103" "" "" "F" "" "Spain" "" "" "" "" "" "" "00414529" "" "" "" "1" "" "00103" "" "" "F" "" "Spain" "" "" "" "" "" "" "00414530" "" "" "" "1" "" "00103" "" "" "F" "" "Spain" "" "" "" "" "" "" "00414531" "" "" "" "1" "" "00103" "" "" "F" "" "Spain" "" "" "" "" "" "" "00414536" "" "" "" "1" "" "00103" "" "" "F" "" "Spain" "" "" "" "" "" "" "00414537" "" "" "" "1" "" "00103" "" "" "F" "" "Spain" "" "" "" "" "" "" "00430353" "" "" "" "1" "" "01082" "" "" "F" "?" "Brazil" "" "" "" "" "" "MINAS_05" "00433146" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "F" "" "Norway" "" "0" "" "" "" "Pat127,1" "00443720" "" "" "" "1" "" "04599" "" "" "M" "" "Mexico" "" "" "" "" "Mexican" "UCDMX002_S2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 49 "{{individualid}}" "{{diseaseid}}" "00000344" "00054" "00000345" "00054" "00000346" "00054" "00004160" "00054" "00049848" "00054" "00049865" "00054" "00049866" "00054" "00049867" "00054" "00049868" "00054" "00049869" "00054" "00049870" "00054" "00049871" "00054" "00049872" "00054" "00049873" "00054" "00049880" "00054" "00049884" "00054" "00049885" "00054" "00050652" "00198" "00080908" "00054" "00132285" "00054" "00132286" "00054" "00132288" "00054" "00154496" "00054" "00154499" "00054" "00154500" "00054" "00154501" "00054" "00246562" "00318" "00294596" "00198" "00294597" "00198" "00294598" "00198" "00294599" "00198" "00294600" "00198" "00294601" "00198" "00295585" "00198" "00296566" "00198" "00305185" "00198" "00385532" "04214" "00399242" "00139" "00406992" "05489" "00414527" "00318" "00414528" "00318" "00414529" "00318" "00414530" "00318" "00414531" "00318" "00414536" "00318" "00414537" "00318" "00430353" "04296" "00433146" "05292" "00443720" "05489" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00052, 00053, 00054, 00139, 00198, 00318, 04214, 04296, 05292, 05489 ## Count = 39 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000000055" "00054" "00000345" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036639" "00054" "00049848" "01389" "Familial, autosomal recessive" "15y" "Poikiloderma, short stature" "" "" "" "" "" "" "" "" "" "" "" "0000036640" "00054" "00049865" "01389" "Familial, autosomal recessive" "29y" "poikiloderma, telangiectatic lesions, punctate atrophy, alopecia, saddle nose, short ulnae, osteopenia, short stature, squamous cell carcinoma, basal cell carcinoma" "" "" "" "" "" "" "" "" "" "" "" "0000036641" "00054" "00049866" "01389" "Familial, autosomal recessive" "08y" "poikiloderme, erythema, telangiectatic lesions, hyperkeratosis, alopecia, short stature, impaired neurocognitive development, chronic diarrhoea" "" "" "" "" "" "" "" "" "" "" "" "0000036642" "00054" "00049866" "01389" "Familial, autosomal recessive" "08y" "poikiloderme, erythema, telangiectatic lesions, hyperkeratosis, alopecia, short stature, impaired neurocognitive development, chronic diarrhoea" "" "" "" "" "" "" "" "" "" "" "" "0000036643" "00054" "00049866" "01389" "Familial, autosomal recessive" "08y" "poikiloderme, erythema, telangiectatic lesions, hyperkeratosis, alopecia, short stature, impaired neurocognitive development, chronic diarrhoea" "" "" "" "" "" "" "" "" "" "" "" "0000036644" "00054" "00049866" "01389" "Familial, autosomal recessive" "08y" "poikiloderme, erythema, telangiectatic lesions, hyperkeratosis, alopecia, short stature, impaired neurocognitive development, chronic diarrhoea" "" "" "" "" "" "" "" "" "" "" "" "0000036645" "00054" "00049866" "01389" "Familial, autosomal recessive" "08y" "poikiloderme, erythema, telangiectatic lesions, hyperkeratosis, alopecia, short stature, impaired neurocognitive development, chronic diarrhoea" "" "" "" "" "" "" "" "" "" "" "" "0000036646" "00054" "00049866" "01389" "Familial, autosomal recessive" "08y" "poikiloderme, erythema, telangiectatic lesions, hyperkeratosis, alopecia, short stature, impaired neurocognitive development, chronic diarrhoea" "" "" "" "" "" "" "" "" "" "" "" "0000036647" "00054" "00049866" "01389" "Familial, autosomal recessive" "08y" "poikiloderme, erythema, telangiectatic lesions, hyperkeratosis, alopecia, short stature, impaired neurocognitive development, chronic diarrhoea" "" "" "" "" "" "" "" "" "" "" "" "0000036648" "00054" "00049866" "01389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000036649" "00054" "00049867" "01389" "Familial, autosomal recessive" "02y" "poikiloderma, microdontia, abnormalities of the long bones, short stature, delayed motor development, nutritional problems, osteosarcoma" "" "" "" "" "" "" "" "" "" "" "" "0000036650" "00054" "00049868" "01389" "Familial, autosomal recessive" "02y" "poikiloderma, erythema, telangiectatic lesions, hyperkeratosis, alopecia, cataract, frontal bossing, short stature" "" "" "" "" "" "" "" "" "" "" "" "0000036651" "00054" "00049869" "01389" "Familial, autosomal recessive" "01y06m" "poikiloderma, erythema, telangiectatic lesions, pachyonychia, delayed dentition, hypoplastic teeth, saddle nose, joint pain, slow weight gain, impaired neurocognitive development" "" "" "" "" "" "" "" "" "" "" "" "0000036652" "00054" "00049870" "01389" "Familial, autosomal recessive" "01y08m" "multiple café-au-lair spots, skeletal lesions, linear growth deficiency, chronic diarrhoea" "" "" "" "" "" "" "" "" "" "" "" "0000036653" "00054" "00049871" "01389" "Familial, autosomal recessive" "03y" "" "" "" "" "" "" "" "" "" "" "" "" "0000036654" "00054" "00049872" "01389" "Familial, autosomal recessive" "05y" "multiple café-au-lair spots, abnormalities of the long bones, hypo plastic thumbs, short stature" "" "" "" "" "" "" "" "" "" "" "" "0000036655" "00054" "00049873" "01389" "Familial, autosomal recessive" "07y" "poikiloderma" "" "" "" "" "" "" "" "" "" "" "" "0000036658" "00054" "00049880" "01389" "Familial, autosomal recessive" "01y09m" "alopecia, bilateral elbow/knee dislocations, hypoplastic thumbs, failure to thrive, chronic diarrhoea" "" "" "" "" "" "" "" "" "" "" "" "0000036659" "00054" "00049884" "01389" "Familial, autosomal recessive" "00y01m" "" "" "" "" "" "" "" "" "" "" "" "" "0000036660" "00054" "00049885" "01389" "Familial, autosomal recessive" "11y" "alopecia, dystrophic nails, osteopenia, short stature, gastrointestinal symptoms during infancy" "" "" "" "" "" "" "" "" "" "" "" "0000037264" "00198" "00050652" "00006" "Isolated (sporadic)" "" "poikiloderma, sparse scalp hair" "" "" "" "" "" "" "" "" "" "" "" "0000044577" "00054" "00004160" "00006" "Familial, autosomal recessive" "" "see paper; two siblings with a mild phenotype, mainly restricted to the skin, ..." "" "" "" "" "" "" "" "" "" "" "" "0000060477" "00054" "00080908" "01758" "Familial, autosomal recessive" "" "Rothmund-Thomson syndrome (OMIM:268400)" "" "" "" "" "" "" "" "" "" "" "" "0000105069" "00054" "00132285" "02283" "Familial, autosomal recessive" "05y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000105070" "00054" "00132286" "02283" "Familial, autosomal recessive" "00y10m" "" "" "" "" "" "" "" "" "" "" "" "" "0000105071" "00054" "00132288" "02283" "Familial, autosomal recessive" "04y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000127232" "00054" "00154496" "00571" "Unknown" "" "poikiloderma on face, limbs and buttocks; hyperkeratosis on palms, soles and knukles; onychodystophy; sparse eyebrows; keratoconus; low bone density." "00y06m" "" "" "" "" "" "" "" "RTS" "RTS" "" "0000127235" "00054" "00154499" "00571" "Familial, autosomal recessive" "" "Poikiloderma, growth delay, plantar hyperkeratosis, photosensitivity, sparse hair, eyelashes, eyebrows, onychodystrophy, dental defects, osteosclerosis and cystic-like lesions, diarrhea, food intolerance in infancy. Her younger brother died for osteosarcoma at 18y." "" "" "" "" "" "" "" "" "RTS" "RTS" "" "0000127236" "00054" "00154500" "00571" "Familial, autosomal recessive" "" "Poikiloderma, hyperkeratosis on palms and joints, dental defects, recurrent middle ear infections, IgA deficiency, knee arthritis" "" "" "" "" "" "" "" "" "RTS" "RTS" "" "0000127237" "00054" "00154501" "00571" "Isolated (sporadic)" "" "Growth delay,\r\nplantar hyperkeratosis, sparse hair, eyelashes and eyebrows, enamel defects, osteopenia, diarrhea in infancy, hypogonadism, chronic anemia, hyperferritinemia, hypercholesterolemia, no poikiloderma but only white nodular lesions on the skin and swelling.\r\nShe had alveolar rhabdomyosarcoma at 12y" "" "" "" "" "" "" "" "" "probable RTS" "probable RTS" "" "0000186413" "00318" "00246562" "00643" "Unknown" "" "family history; no triple-negative breast cancer; 46y first breast cancer; 63y ovarian cancer" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000223150" "00198" "00295585" "01164" "Unknown" "" "Breast carcinoma (HP:0003002)" "" "" "" "" "" "" "" "" "" "" "" "0000223972" "00198" "00296566" "01164" "Unknown" "" "Neoplasm by anatomical site (HP:0011793); Breast carcinoma (HP:0003002)" "" "" "" "" "" "" "" "" "" "" "" "0000279327" "04214" "00385532" "00000" "Familial, autosomal recessive" "" "" "5y" "" "" "" "" "" "" "" "" "congenital cataracts; posterior lenticonus" "" "0000292354" "00139" "00399242" "00006" "Isolated (sporadic)" "15y" "see paper; ..., prenatal period unremarkable pregnancy after IVF, birth 40w, weight 3,755 g (62P), length 53 cm (59P); neonatal stiffness (stiff baby syndrome), irritability, excessive startle reflex; no congenital anomalies; normal postnatal growth; mild to moderate developmental delay; speech with dysarthria; MRI brain normal; interaction with adults, reduced attention span, tension with irritability, anxiety; muscle hyperekplexia with exaggerated head-retraction reflex, stiffness, hypertonia; difficulties walking in straight line, stiff gait, ability to run; no seizures, but severe contraction burst in relation to trauma; large ears; EEG normal; sleeping problems in childhood" "" "" "" "" "" "" "" "" "NEDSGA" "intellectual disability" "" "0000321154" "04296" "00430353" "01082" "Familial, autosomal dominant" "" "Well-differentiated pancreatic neuroendocrine tumor (HP:0002894); Follicular variant of papillary thyroid carcinoma (HP:0002890)" "" "40y" "" "" "" "" "" "" "" "" "" "0000323672" "05292" "00433146" "00006" "Familial, autosomal recessive" "3y" "immuno-osseous dysplasia, chromosomal disorder and other syndromic primary immunodeficiency diseases" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000333002" "05489" "00443720" "04599" "Unknown" "29" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 52 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000356" "00000344" "1" "00001" "00001" "2010-12-15 21:45:45" "" "" "SEQ" "DNA" "" "" "0000000357" "00000345" "1" "00001" "00001" "2010-12-15 21:45:45" "" "" "SEQ" "DNA" "" "" "0000000358" "00000346" "1" "00001" "00001" "2010-12-15 21:45:45" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000000359" "00000344" "1" "00001" "00001" "2010-12-15 21:45:45" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000000360" "00000345" "1" "00001" "00001" "2010-12-15 21:45:45" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000000361" "00000346" "1" "00001" "00001" "2010-12-15 21:45:45" "" "" "SEQ" "DNA" "" "" "0000004088" "00004160" "1" "00571" "00571" "2014-01-09 12:45:16" "00571" "2014-01-09 20:18:32" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000049769" "00049848" "1" "01389" "01389" "2015-09-13 11:17:23" "" "" "SEQ" "DNA" "EDTA blood" "" "0000049786" "00049865" "1" "01389" "01389" "2015-09-13 15:30:21" "" "" "SEQ" "DNA" "EDTA blood" "" "0000049787" "00049866" "1" "01389" "01389" "2015-09-13 15:54:16" "" "" "SEQ" "DNA" "EDTA blood" "" "0000049788" "00049867" "1" "01389" "01389" "2015-09-13 16:30:33" "" "" "SEQ" "DNA" "EDTA blood" "" "0000049789" "00049868" "1" "01389" "01389" "2015-09-13 16:47:00" "" "" "SEQ" "DNA" "EDTA blood" "" "0000049790" "00049869" "1" "01389" "01389" "2015-09-13 17:14:51" "" "" "SEQ" "DNA" "EDTA blood" "" "0000049791" "00049870" "1" "01389" "01389" "2015-09-13 17:54:21" "" "" "SEQ" "DNA" "EDTA blood" "" "0000049792" "00049871" "1" "01389" "01389" "2015-09-13 18:16:18" "" "" "SEQ" "DNA" "EDTA blood" "" "0000049793" "00049872" "1" "01389" "01389" "2015-09-13 18:30:54" "" "" "SEQ" "DNA" "EDTA blood" "" "0000049794" "00049873" "1" "01389" "01389" "2015-09-13 18:49:11" "" "" "SEQ" "DNA" "EDTA blood" "" "0000049801" "00049880" "1" "01389" "01389" "2015-09-13 21:29:08" "" "" "SEQ" "DNA" "EDTA blood" "" "0000049805" "00049884" "1" "01389" "01389" "2015-09-13 22:33:19" "" "" "SEQ" "DNA" "EDTA blood" "" "0000049806" "00049885" "1" "01389" "01389" "2015-09-13 22:58:52" "" "" "SEQ" "DNA" "EDTA blood" "" "0000050597" "00050652" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000081020" "00080908" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000133122" "00132285" "1" "02283" "02283" "2017-10-25 17:26:37" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000133123" "00132286" "1" "02283" "02283" "2017-10-25 20:40:31" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000133124" "00132288" "1" "02283" "02283" "2017-10-25 21:09:08" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000155355" "00154496" "1" "00571" "00571" "2018-03-01 10:31:04" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "white blood cells" "" "0000155357" "00154499" "1" "00571" "00571" "2018-03-01 11:40:48" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "white blood cells" "" "0000155358" "00154500" "1" "00571" "00571" "2018-03-01 12:16:58" "" "" "PCR;SEQ" "DNA" "white blood cells" "" "0000155359" "00154501" "1" "00571" "00571" "2018-03-01 12:30:59" "" "" "PCR;SEQ" "DNA" "" "" "0000247674" "00246562" "1" "00643" "00006" "2019-07-12 12:55:51" "" "" "SEQ" "DNA" "" "gene panel" "0000295764" "00294596" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295765" "00294597" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295766" "00294598" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295767" "00294599" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295768" "00294600" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295769" "00294601" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296755" "00295585" "1" "01164" "01164" "2020-03-18 10:49:08" "" "" "SEQ-NG-S" "DNA" "" "" "0000297676" "00296566" "1" "01164" "01164" "2020-04-08 14:14:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000306314" "00305185" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000386761" "00385532" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "144 genes panel tested" "0000400486" "00399242" "1" "00006" "00006" "2022-01-17 18:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000408238" "00406992" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000415808" "00414527" "1" "00103" "00103" "2022-07-28 17:29:28" "" "" "SEQ-NG-I" "DNA" "" "" "0000415809" "00414528" "1" "00103" "00103" "2022-07-28 17:39:48" "00006" "2022-08-21 13:49:13" "SEQ-ON" "DNA" "" "" "0000415810" "00414529" "1" "00103" "00103" "2022-07-28 17:43:55" "00006" "2022-08-21 13:52:26" "SEQ-NG-I" "DNA" "" "" "0000415811" "00414530" "1" "00103" "00103" "2022-07-28 17:48:15" "00006" "2022-08-21 13:56:16" "SEQ-NG-I" "DNA" "" "" "0000415812" "00414531" "1" "00103" "00103" "2022-07-28 17:58:26" "" "" "SEQ-ON" "DNA" "" "" "0000415817" "00414536" "1" "00103" "00103" "2022-07-28 18:02:15" "" "" "SEQ-ON" "DNA" "" "" "0000415818" "00414537" "1" "00103" "00103" "2022-07-28 18:06:05" "" "" "SEQ-NG-I" "DNA" "" "" "0000431768" "00430353" "1" "01082" "01082" "2023-01-18 17:41:23" "" "" "SEQ-NG" "DNA" "" "" "0000434577" "00433146" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000445213" "00443720" "1" "04599" "04599" "2023-12-01 06:31:58" "" "" "SEQ-NG-I" "DNA" "Blood" "TruSight Cancer Sequencing Panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{geneid}}" "0000000356" "RECQL4" "0000000357" "RECQL4" "0000000358" "RECQL4" "0000000359" "RECQL4" "0000000360" "RECQL4" "0000000361" "BRCA2" "0000000361" "RECQL4" "0000004088" "RECQL4" "0000049769" "RECQL4" "0000049786" "RECQL4" "0000049787" "RECQL4" "0000049788" "RECQL4" "0000049789" "RECQL4" "0000049790" "RECQL4" "0000049791" "RECQL4" "0000049792" "RECQL4" "0000049793" "RECQL4" "0000049794" "RECQL4" "0000049801" "RECQL4" "0000049805" "RECQL4" "0000049806" "RECQL4" "0000050597" "RECQL4" "0000081020" "RECQL4" "0000155355" "RECQL4" "0000155357" "RECQL4" "0000155358" "RECQL4" "0000155359" "RECQL4" "0000247674" "BRCA2" "0000247674" "RECQL4" "0000386761" "RECQL4" "0000415808" "RECQL4" "0000415809" "RECQL4" "0000415810" "RECQL4" "0000415811" "RECQL4" "0000415812" "RECQL4" "0000415817" "RECQL4" "0000415818" "RECQL4" "0000445213" "RECQL4" ## 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 = 479 "{{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}}" "0000016571" "21" "95" "8" "145739876" "145739882" "del" "0" "00001" "RECQL4_000001" "g.145739876_145739882del" "0/132 cont chr" "{PMID:Kitao 1999:10319867}, {OMIM603780:0001}" "" "" "" "Germline" "" "" "" "" "" "g.144514492_144514498del" "" "pathogenic" "" "0000016572" "21" "95" "8" "145739876" "145739882" "del" "0" "00001" "RECQL4_000001" "g.145739876_145739882del" "0/132 cont chr" "{PMID:Kitao 1999:10319867}, {OMIM603780:0001}" "" "" "" "Germline" "" "" "" "" "" "g.144514492_144514498del" "" "pathogenic" "" "0000016573" "2" "95" "8" "145739097" "145739097" "subst" "0" "00001" "RECQL4_000004" "g.145739097C>A" "0/114 cont chr" "{PMID:Kitao 1999:10319867}, {OMIM603780:0004}" "" "" "" "Unknown" "" "" "" "" "" "g.144513713C>A" "" "pathogenic" "" "0000016574" "11" "95" "8" "145738796" "145738796" "subst" "0.000117976" "00001" "RECQL4_000002" "g.145738796G>A" "0/132 cont chr" "{PMID:Kitao 1999:10319867}, {OMIM603780:0002}" "" "" "" "Germline" "" "" "" "" "" "g.144513412G>A" "" "pathogenic" "" "0000016575" "11" "95" "8" "145738796" "145738796" "subst" "0.000117976" "00001" "RECQL4_000002" "g.145738796G>A" "0/132 cont chr" "{PMID:Kitao 1999:10319867}, {OMIM603780:0002}" "" "" "" "Germline" "" "" "" "" "" "g.144513412G>A" "" "pathogenic" "" "0000016576" "1" "95" "8" "145738492" "145738493" "del" "7.80861E-5" "00001" "RECQL4_000003" "g.145738492_145738493del" "0/114 cont chr" "{PMID:Kitao 1999:10319867}, {OMIM603780:0003}" "" "" "" "Unknown" "" "" "0" "" "" "g.144513109_144513110del" "" "pathogenic" "" "0000016799" "0" "77" "8" "145741697" "145741697" "subst" "4.16237E-6" "00015" "RECQL4_000010" "g.145741697C>T" "" "{PMID:Siitonen et al. 2003:12952869}" "" "c.806G>A (W269X); RAPADILINO 2" "1 Finnish family (com-het) with RAPADILINO syndrome" "SUMMARY record" "yes" "rs137853231" "" "" "" "g.144516313C>T" "" "likely pathogenic" "" "0000016800" "0" "99" "8" "145740708" "145740708" "del" "0.000400507" "00015" "RECQL4_000011" "g.145740708del" "2/274 cont(het)" "{PMID:Siitonen et al. 2003:12952869}, {PMID:Siitonen et al. 2009:18716613}" "" "IVS7+2delT leading skipping of exon 7; RAPADILINO 1" "12 Finnish families (8 hom and 4 com-het) with RAPADILINO syndrome" "SUMMARY record" "yes" "" "" "" "" "g.144515324del" "" "pathogenic" "" "0000016801" "0" "77" "8" "145740620" "145740620" "subst" "2.4023E-5" "00015" "RECQL4_000012" "g.145740620G>A" "" "{PMID:Siitonen et al. 2009:18716613}" "" "" "1 Finnish family (com-het) with RAPADILINO syndrome" "SUMMARY record" "yes" "" "" "" "" "g.144515236G>A" "" "likely pathogenic" "" "0000016802" "0" "77" "8" "145740367" "145740367" "del" "0.000238742" "00015" "RECQL4_000013" "g.145740367del" "" "{PMID:Siitonen et al. 2009:18716613}" "" "" "1 Finnish family (com-het) with RAPADILINO syndrome" "SUMMARY record" "yes" "" "" "" "" "g.144514983del" "" "likely pathogenic" "" "0000016803" "0" "77" "8" "145739482" "145739485" "del" "0" "00015" "RECQL4_000014" "g.145739482_145739485del" "" "{PMID:Siitonen et al. 2009:18716613}" "" "c.1885del4, p.Arg629SerfsX60" "1 Finnish family (com-het) with RAPADILINO syndrome" "SUMMARY record" "yes" "" "" "" "" "g.144514098_144514101del" "" "likely pathogenic" "" "0000016804" "0" "77" "8" "145739481" "145739484" "del" "0" "00015" "RECQL4_000015" "g.145739481_145739484del" "" "{PMID:Siitonen et al. 2009:18716613}" "" "c.1887del4, p.Glu630AlafsX59" "1 Finnish family (com-het) with RAPADILINO syndrome" "SUMMARY record" "yes" "" "" "" "" "g.144514097_144514100del" "" "likely pathogenic" "" "0000016805" "0" "77" "8" "145739460" "145739460" "subst" "4.87719E-6" "00015" "RECQL4_000016" "g.145739460A>G" "" "{PMID:Siitonen et al. 2009:18716613}" "" "" "1 Finnish family (com-het) with RAPADILINO syndrome" "SUMMARY record" "yes" "" "" "" "" "g.144514076A>G" "" "likely pathogenic" "" "0000016806" "0" "77" "8" "145739097" "145739097" "subst" "0" "00015" "RECQL4_000017" "g.145739097C>T" "" "{PMID:Siitonen et al. 2009:18716613}" "" "" "1 Finnish family (com-het) with RAPADILINO syndrome" "SUMMARY record" "yes" "" "" "" "" "g.144513713C>T" "" "likely pathogenic" "" "0000016807" "0" "77" "8" "145739064" "145739064" "subst" "0" "00015" "RECQL4_000018" "g.145739064A>C" "" "{PMID:Siitonen et al. 2009:18716613}" "" "" "1 Finnish family (com-het) with RAPADILINO syndrome" "SUMMARY record" "yes" "" "" "" "" "g.144513680A>C" "" "likely pathogenic" "" "0000016808" "0" "77" "8" "145738796" "145738796" "subst" "0.000117976" "00015" "RECQL4_000002" "g.145738796G>A" "" "{PMID:Siitonen et al. 2009:18716613}" "" "" "1 Finnish family (com-het) with RAPADILINO syndrome" "SUMMARY record" "yes" "rs137853229" "" "" "" "g.144513412G>A" "" "likely pathogenic" "" "0000016809" "0" "77" "8" "145738509" "145738509" "subst" "4.97998E-5" "00015" "RECQL4_000020" "g.145738509G>A" "" "{PMID:Siitonen et al. 2009:18716613}" "" "" "1 Finnish family (com-het) with RAPADILINO syndrome" "SUMMARY record" "yes" "" "0" "" "" "g.144513126G>A" "" "likely pathogenic" "" "0000016810" "0" "77" "8" "145737691" "145737691" "del" "1.2245E-5" "00015" "RECQL4_000021" "g.145737691del" "" "{PMID:Siitonen et al. 2009:18716613}" "" "" "1 Finnish family (com-het) with RAPADILINO syndrome" "SUMMARY record" "yes" "" "0" "" "" "g.144512308del" "" "likely pathogenic" "" "0000016811" "0" "77" "8" "145737549" "145737549" "subst" "4.15783E-6" "00015" "RECQL4_000022" "g.145737549T>A" "" "{PMID:Siitonen et al. 2003:12952869}" "" "c.3214A>T (R1072X); RAPADILINO 4" "1 Finnish family (com-het) with RAPADILINO syndrome" "SUMMARY record" "yes" "" "0" "" "" "g.144512166T>A" "" "likely pathogenic" "" "0000016812" "0" "77" "8" "145737416" "145737416" "subst" "0" "00015" "RECQL4_000023" "g.145737416G>A" "" "{PMID:Siitonen et al. 2003:12952869}" "" "c.3271C>T (Q1091X); RAPADILINO 3" "1 Finnish family (com-het) with RAPADILINO syndrome" "SUMMARY record" "yes" "" "0" "" "" "g.144512033G>A" "" "likely pathogenic" "" "0000016813" "0" "77" "8" "145736841" "145736842" "del" "4.07219E-6" "00015" "RECQL4_000024" "g.145736841_145736842del" "" "{PMID:Siitonen et al. 2009:18716613}" "" "" "1 Finnish family (com-het) with RAPADILINO syndrome" "SUMMARY record" "yes" "" "0" "" "" "g.144511458_144511459del" "" "likely pathogenic" "" "0000022999" "11" "90" "8" "145738793" "145738793" "subst" "0" "00571" "RECQL4_000025" "g.145738793G>A" "" "{PMID:Colombo 2014:24518840}, {DOI:Colombo 2014:10.1038/ejhg.2014.18}" "" "" "r.2266_2463del transcript is a physiological transcript, its expression is increased by the c.2272C>T variant" "Germline" "" "" "0" "" "" "g.144513409G>A" "" "pathogenic" "" "0000023102" "21" "90" "8" "145738492" "145738493" "del" "7.80861E-5" "00571" "RECQL4_000026" "g.145738492_145738493del" "" "{PMID:Colombo 2014:24518840}, {DOI:Colombo 2014:10.1038/ejhg.2014.18}" "" "2492_2493delAT" "" "Germline" "" "" "0" "" "" "g.144513109_144513110del" "" "pathogenic" "" "0000078654" "11" "70" "8" "145741942" "145741948" "dup" "0" "01389" "RECQL4_000041" "g.145741942_145741948dup" "1/45 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144516558_144516564dup" "" "likely pathogenic" "" "0000078659" "21" "90" "8" "145737691" "145737692" "del" "0" "01389" "RECQL4_000046" "g.145737691_145737692del" "2/45 patients" "" "" "3072_3073delAG" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000078664" "0" "70" "8" "145741184" "145741184" "subst" "0" "01389" "RECQL4_000039" "g.145741184G>A" "1/45 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144515800G>A" "" "likely pathogenic" "" "0000078665" "0" "90" "8" "145741425" "145741425" "subst" "8.1489E-6" "01389" "RECQL4_000040" "g.145741425G>A" "1/45 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144516041G>A" "" "pathogenic" "" "0000078666" "0" "70" "8" "145739445" "145739450" "dup" "0" "01389" "RECQL4_000033" "g.145739445_145739450dup" "1/45 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144514061_144514066dup" "" "likely pathogenic" "" "0000078667" "0" "90" "8" "145740367" "145740367" "del" "0.000238742" "01389" "RECQL4_000013" "g.145740367del" "2/45 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144514983del" "" "pathogenic" "" "0000078668" "11" "70" "8" "145739072" "145739072" "del" "0" "01389" "RECQL4_000032" "g.145739072del" "1/45 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144513688del" "" "likely pathogenic" "" "0000078669" "21" "90" "8" "145740627" "145740627" "subst" "4.10494E-5" "01389" "RECQL4_000037" "g.145740627C>T" "1/45 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144515243C>T" "" "pathogenic" "" "0000078670" "0" "70" "8" "145738789" "145738789" "dup" "0" "01389" "RECQL4_000031" "g.145738789dup" "1/45 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144513405dup" "" "likely pathogenic" "" "0000078671" "0" "50" "8" "145737470" "145737470" "subst" "4.31131E-6" "01389" "RECQL4_000049" "g.145737470A>C" "1/45 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144512087A>C" "" "VUS" "" "0000078672" "0" "70" "8" "145738425" "145738430" "dup" "0" "01389" "RECQL4_000030" "g.145738425_145738430dup" "1/45 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144513042_144513047dup" "" "likely pathogenic" "" "0000078673" "0" "30" "8" "145742850" "145742850" "subst" "0.00364869" "01389" "RECQL4_000045" "g.145742850T>C" "1/45 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144517466T>C" "" "likely benign" "" "0000078674" "3" "70" "8" "145738108" "145738131" "del" "0" "01389" "RECQL4_000028" "g.145738108_145738131del" "1/45 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144512725_144512748del" "" "likely pathogenic" "" "0000078675" "0" "70" "8" "145737823" "145737824" "del" "0" "01389" "RECQL4_000027" "g.145737823_145737824del" "1/45 patients" "" "" "" "" "Germline" "" "" "0" "" "" "g.144512440_144512441del" "" "likely pathogenic" "" "0000078676" "0" "90" "8" "145740367" "145740367" "del" "0.000238742" "01389" "RECQL4_000013" "g.145740367del" "2/45 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144514983del" "" "pathogenic" "" "0000078677" "21" "70" "8" "145737358" "145737358" "dup" "0" "01389" "RECQL4_000048" "g.145737358dup" "1/45 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144511975dup" "" "likely pathogenic" "" "0000078678" "11" "90" "8" "145739833" "145739833" "subst" "0.000118705" "01389" "RECQL4_000035" "g.145739833A>G" "1/45 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144514449A>G" "" "pathogenic" "" "0000078679" "0" "50" "8" "145736868" "145736868" "subst" "0" "01389" "RECQL4_000047" "g.145736868G>C" "1/45 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144511485G>C" "" "VUS" "" "0000078680" "0" "70" "8" "145742799" "145742799" "subst" "0.0236621" "01389" "RECQL4_000044" "g.145742799T>C" "1/45 patients" "" "" "" "" "Germline" "" "" "0" "" "" "g.144517415T>C" "" "likely pathogenic" "" "0000078708" "10" "50" "8" "145740372" "145740372" "subst" "0.000243991" "01389" "RECQL4_000036" "g.145740372C>G" "1/45 patients" "" "" "" "complex allele together with c.1573delT" "Germline" "yes" "" "0" "" "" "g.144514988C>G" "" "VUS" "" "0000078709" "11" "90" "8" "145740367" "145740367" "del" "0.000238742" "01389" "RECQL4_000013" "g.145740367del" "2/45 patients" "" "" "" "complex allele together with c.1568G>C" "Germline" "yes" "" "0" "" "" "g.144514983del" "" "pathogenic" "" "0000078710" "21" "90" "8" "145738796" "145738796" "subst" "0.000117976" "01389" "RECQL4_000002" "g.145738796G>A" "3/45 patients" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144513412G>A" "" "pathogenic" "" "0000078711" "20" "30" "8" "145742788" "145742788" "subst" "0" "01389" "RECQL4_000043" "g.145742788G>C" "1/45 patients" "" "" "" "" "Germline" "?" "" "0" "" "" "g.144517404G>C" "" "likely benign" "" "0000078712" "3" "50" "8" "145742514" "145742514" "subst" "0" "01389" "RECQL4_000042" "g.145742514G>A" "1/45 patients" "" "" "" "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" "?" "" "0" "" "" "g.144517130G>A" "" "VUS" "" "0000078713" "0" "50" "8" "145740632" "145740632" "subst" "0" "01389" "RECQL4_000038" "g.145740632G>T" "1/45 patients" "" "" "" "" "Germline" "?" "" "0" "" "" "g.144515248G>T" "" "VUS" "" "0000078714" "0" "90" "8" "145738395" "145738395" "subst" "2.8529E-5" "01389" "RECQL4_000029" "g.145738395G>A" "1/45 patients" "" "" "" "" "Germline" "?" "" "0" "" "" "g.144513012G>A" "" "pathogenic" "" "0000078715" "0" "50" "8" "145739551" "145739551" "subst" "0" "01389" "RECQL4_000034" "g.145739551C>T" "1/45 patients" "" "" "" "" "Germline" "?" "" "0" "" "" "g.144514167C>T" "" "VUS" "" "0000079577" "3" "90" "8" "145739097" "145739097" "subst" "0" "00006" "RECQL4_000017" "g.145739097C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "splice variant" "Germline" "" "" "0" "" "" "g.144513713C>T" "" "pathogenic" "" "0000130106" "3" "70" "8" "145741503" "145741503" "subst" "0" "01758" "RECQL4_000050" "g.145741503C>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.144516119C>A" "" "likely pathogenic" "ACMG" "0000222328" "11" "90" "8" "145739728" "145739729" "del" "0" "02283" "RECQL4_000051" "g.145739728_145739729del" "" "" "" "1724_1725delAC" "" "Germline" "yes" "" "0" "" "" "g.144514344_144514345del" "" "pathogenic" "" "0000222329" "21" "70" "8" "145741812" "145741812" "subst" "0" "02283" "RECQL4_000052" "g.145741812C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144516428C>T" "" "likely pathogenic" "" "0000222330" "11" "90" "8" "145739728" "145739729" "del" "0" "02283" "RECQL4_000051" "g.145739728_145739729del" "" "" "" "1724_1725delAC" "" "Germline" "yes" "" "0" "" "" "g.144514344_144514345del" "" "pathogenic" "" "0000222331" "21" "70" "8" "145741812" "145741812" "subst" "0" "02283" "RECQL4_000052" "g.145741812C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144516428C>T" "" "likely pathogenic" "" "0000222332" "11" "90" "8" "145738644" "145738644" "dup" "0" "02283" "RECQL4_000053" "g.145738644dup" "" "" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000222333" "21" "90" "8" "145739648" "145739685" "del" "0" "02283" "RECQL4_000054" "g.145739648_145739685del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144514264_144514301del" "" "pathogenic" "" "0000248603" "0" "10" "8" "145737636" "145737636" "subst" "0.970075" "02325" "RECQL4_000070" "g.145737636A>G" "" "" "" "RECQL4(NM_004260.4):c.3127T>C (p.L1043=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144512253A>G" "" "benign" "" "0000248915" "0" "10" "8" "145742514" "145742514" "subst" "0.970209" "02325" "RECQL4_000132" "g.145742514A>G" "" "" "" "RECQL4(NM_004260.4):c.274T>C (p.S92P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144517130A>G" "" "benign" "" "0000250555" "0" "50" "8" "145739833" "145739833" "subst" "0.000118705" "02329" "RECQL4_000035" "g.145739833A>G" "" "" "" "RECQL4(NM_004260.3):c.1697T>C (p.L566P), RECQL4(NM_004260.4):c.1697T>C (p.L566P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144514449A>G" "" "VUS" "" "0000254549" "0" "30" "8" "145746542" "145746542" "subst" "0" "01943" "LRRC14_000004" "g.145746542A>G" "" "" "" "LRRC14(NM_001272036.1):c.1162A>G (p.I388V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144521158A>G" "" "likely benign" "" "0000255251" "0" "30" "8" "145738598" "145738598" "subst" "0.000124995" "01943" "RECQL4_000088" "g.145738598A>G" "" "" "" "RECQL4(NM_004260.3):c.2463+3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144513215A>G" "" "likely benign" "" "0000255419" "0" "90" "8" "145740367" "145740367" "del" "0.000238742" "01943" "RECQL4_000105" "g.145740367del" "" "" "" "RECQL4(NM_004260.3):c.1573delT (p.C525Afs*33), RECQL4(NM_004260.4):c.1573delT (p.C525Afs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144514983del" "" "pathogenic" "" "0000291180" "0" "30" "8" "145745829" "145745829" "subst" "4.26811E-6" "01943" "LRRC14_000003" "g.145745829G>T" "" "" "" "LRRC14(NM_001272036.1):c.537G>T (p.A179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144520445G>T" "" "likely benign" "" "0000297624" "0" "10" "8" "145741130" "145741130" "subst" "0.475336" "02325" "RECQL4_000114" "g.145741130C>T" "" "" "" "RECQL4(NM_004260.4):c.1258+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144515746C>T" "" "benign" "" "0000297625" "0" "10" "8" "145739924" "145739924" "subst" "0.476835" "02325" "RECQL4_000104" "g.145739924G>A" "" "" "" "RECQL4(NM_004260.4):c.1621-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144514540G>A" "" "benign" "" "0000297626" "0" "10" "8" "145738769" "145738769" "del" "0" "02325" "RECQL4_000091" "g.145738769del" "" "" "" "RECQL4(NM_004260.4):c.2296delC (p.R766Gfs*77)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144513385del" "" "benign" "" "0000297627" "0" "10" "8" "145738592" "145738593" "del" "0" "02325" "RECQL4_000086" "g.145738592_145738593del" "" "" "" "RECQL4(NM_004260.4):c.2463+19_2463+20delCC, RECQL4(NM_004260.4):c.2463+8_2463+9delCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144513209_144513210del" "" "benign" "" "0000297628" "0" "10" "8" "145737514" "145737514" "subst" "0.490081" "02325" "RECQL4_000067" "g.145737514G>A" "" "" "" "RECQL4(NM_004260.4):c.3236+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144512131G>A" "" "benign" "" "0000297629" "0" "10" "8" "145737286" "145737286" "subst" "0.475735" "02325" "RECQL4_000063" "g.145737286G>A" "" "" "" "RECQL4(NM_004260.4):c.3393+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144511903G>A" "" "benign" "" "0000297630" "0" "10" "8" "145741765" "145741765" "subst" "0.443992" "02325" "RECQL4_000123" "g.145741765G>A" "" "" "" "RECQL4(NM_004260.4):c.738C>T (p.S246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144516381G>A" "" "benign" "" "0000297631" "0" "10" "8" "145741702" "145741702" "subst" "0.437446" "02325" "RECQL4_000122" "g.145741702C>G" "" "" "" "RECQL4(NM_004260.4):c.801G>C (p.E267D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144516318C>G" "" "benign" "" "0000299268" "0" "10" "8" "145741413" "145741413" "subst" "0.00114171" "02329" "RECQL4_000120" "g.145741413C>T" "" "" "" "RECQL4(NM_004260.3):c.1090G>A (p.(Val364Met)), RECQL4(NM_004260.4):c.1090G>A (p.V364M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144516029C>T" "" "benign" "" "0000299269" "0" "10" "8" "145741142" "145741142" "subst" "0.0241596" "02329" "RECQL4_000115" "g.145741142T>A" "" "" "" "RECQL4(NM_004260.3):c.1258+6A>T (p.(=)), RECQL4(NM_004260.4):c.1258+6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144515758T>A" "" "benign" "" "0000299270" "0" "10" "8" "145740622" "145740622" "subst" "0.00549811" "02329" "RECQL4_000110" "g.145740622C>T" "" "" "" "RECQL4(NM_004260.4):c.1395G>A (p.(Thr465=), p.T465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144515238C>T" "" "benign" "" "0000299271" "0" "10" "8" "145740375" "145740375" "subst" "0.00647082" "02329" "RECQL4_000107" "g.145740375C>T" "" "" "" "RECQL4(NM_004260.3):c.1565G>A (p.(Arg522His), p.R522H), RECQL4(NM_004260.4):c.1565G>A (p.R522H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144514991C>T" "" "benign" "" "0000299272" "0" "10" "8" "145742850" "145742850" "subst" "0.00364869" "02329" "RECQL4_000045" "g.145742850T>C" "" "" "" "RECQL4(NM_004260.3):c.161A>G (p.Q54R, p.(Gln54Arg)), RECQL4(NM_004260.4):c.161A>G (p.Q54R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144517466T>C" "" "benign" "" "0000299273" "0" "30" "8" "145739817" "145739817" "subst" "0.00203157" "02329" "RECQL4_000102" "g.145739817G>A" "" "" "" "RECQL4(NM_004260.3):c.1704+9C>T, RECQL4(NM_004260.4):c.1704+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144514433G>A" "" "likely benign" "" "0000299274" "0" "10" "8" "145739679" "145739679" "subst" "0.00652883" "02329" "RECQL4_000101" "g.145739679G>A" "" "" "" "RECQL4(NM_004260.4):c.1772C>T (p.P591L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144514295G>A" "" "benign" "" "0000299275" "0" "30" "8" "145739416" "145739416" "subst" "0.00243856" "02329" "RECQL4_000100" "g.145739416C>T" "" "" "" "RECQL4(NM_004260.3):c.1954G>A (p.V652M, p.(Val652Met)), RECQL4(NM_004260.4):c.1954G>A (p.V652M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144514032C>T" "" "likely benign" "" "0000299276" "0" "10" "8" "145742816" "145742816" "subst" "0.00105418" "02329" "RECQL4_000133" "g.145742816G>C" "" "" "" "RECQL4(NM_004260.4):c.195C>G (p.L65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144517432G>C" "" "benign" "" "0000299277" "0" "10" "8" "145739112" "145739112" "subst" "0.0151255" "02329" "RECQL4_000098" "g.145739112T>C" "" "" "" "RECQL4(NM_004260.4):c.2059-16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144513728T>C" "" "benign" "" "0000299278" "0" "30" "8" "145739121" "145739127" "del" "0" "02329" "RECQL4_000099" "g.145739121_145739127del" "" "" "" "RECQL4(NM_004260.4):c.2059-26_2059-20delTGCCCAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144513737_144513743del" "" "likely benign" "" "0000299279" "0" "10" "8" "145742799" "145742799" "subst" "0.0236621" "02329" "RECQL4_000044" "g.145742799T>C" "" "" "" "RECQL4(NM_004260.3):c.212A>G (p.(Glu71Gly)), RECQL4(NM_004260.4):c.212A>G (p.E71G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144517415T>C" "" "benign" "" "0000299280" "0" "10" "8" "145738827" "145738827" "subst" "0.00342363" "02329" "RECQL4_000094" "g.145738827C>T" "" "" "" "RECQL4(NM_004260.3):c.2238G>A (p.A746=), RECQL4(NM_004260.4):c.2238G>A (p.A746=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144513443C>T" "" "benign" "" "0000299281" "0" "50" "8" "145738808" "145738808" "subst" "0" "02329" "RECQL4_000093" "g.145738808G>A" "" "" "" "RECQL4(NM_004260.4):c.2257C>T (p.(Arg753Trp), p.R753W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144513424G>A" "" "VUS" "" "0000299282" "0" "10" "8" "145738669" "145738669" "subst" "0.0160257" "02329" "RECQL4_000090" "g.145738669C>T" "" "" "" "RECQL4(NM_004260.3):c.2395G>A (p.(Val799Met), p.V799M), RECQL4(NM_004260.4):c.2395G>A (p.V799M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144513286C>T" "" "benign" "" "0000299283" "0" "30" "8" "145738604" "145738604" "subst" "0.000829779" "02329" "RECQL4_000089" "g.145738604G>A" "" "" "" "RECQL4(NM_004260.3):c.2460C>T (p.P820=), RECQL4(NM_004260.3):c.2461C>T (p.(Pro821Ser)), RECQL4(NM_004260.4):c.2460C>T (p.P820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144513221G>A" "" "likely benign" "" "0000299284" "0" "10" "8" "145738585" "145738585" "subst" "0" "02329" "RECQL4_000085" "g.145738585G>T" "" "" "" "RECQL4(NM_004260.4):c.2463+16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144513202G>T" "" "benign" "" "0000299285" "0" "30" "8" "145738592" "145738593" "del" "0" "02329" "RECQL4_000084" "g.145738592_145738593del" "" "" "" "RECQL4(NM_004260.4):c.2463+19_2463+20delCC, RECQL4(NM_004260.4):c.2463+8_2463+9delCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144513209_144513210del" "" "likely benign" "" "0000299286" "0" "30" "8" "145738594" "145738594" "del" "0" "02329" "RECQL4_000087" "g.145738594del" "" "" "" "RECQL4(NM_004260.4):c.2463+7delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144513211del" "" "likely benign" "" "0000299287" "0" "10" "8" "145738349" "145738349" "subst" "0.0075694" "02329" "RECQL4_000079" "g.145738349G>T" "" "" "" "RECQL4(NM_004260.3):c.2636C>A (p.P879H, p.(Pro879His)), RECQL4(NM_004260.4):c.2636C>A (p.P879H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144512966G>T" "" "benign" "" "0000299288" "0" "30" "8" "145738093" "145738093" "subst" "0.00192625" "02329" "RECQL4_000075" "g.145738093C>T" "" "" "" "RECQL4(NM_004260.3):c.2817G>A (p.A939=), RECQL4(NM_004260.4):c.2817G>A (p.A939=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144512710C>T" "" "likely benign" "" "0000299289" "0" "30" "8" "145737863" "145737863" "subst" "0.000237256" "02329" "RECQL4_000073" "g.145737863C>T" "" "" "" "RECQL4(NM_004260.3):c.2967G>A (p.M989I), RECQL4(NM_004260.4):c.2967G>A (p.M989I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144512480C>T" "" "likely benign" "" "0000299290" "0" "30" "8" "145737701" "145737701" "subst" "0.00409099" "02329" "RECQL4_000071" "g.145737701C>T" "" "" "" "RECQL4(NM_004260.3):c.3062G>A (p.R1021Q, p.(Arg1021Gln)), RECQL4(NM_004260.4):c.3062G>A (p.R1021Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144512318C>T" "" "likely benign" "" "0000299291" "0" "10" "8" "145742479" "145742479" "subst" "0.00666465" "02329" "RECQL4_000131" "g.145742479C>T" "" "" "" "RECQL4(NM_004260.3):c.309G>A (p.P103=), RECQL4(NM_004260.4):c.309G>A (p.P103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144517095C>T" "" "benign" "" "0000299292" "0" "30" "8" "145737143" "145737143" "subst" "2.44778E-5" "02329" "RECQL4_000062" "g.145737143G>A" "" "" "" "RECQL4(NM_004260.4):c.3423C>T (p.C1141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144511760G>A" "" "likely benign" "" "0000299293" "0" "30" "8" "145737131" "145737131" "subst" "0.00293518" "02329" "RECQL4_000061" "g.145737131C>G" "" "" "" "RECQL4(NM_004260.3):c.3435G>C (p.Q1145H, p.(Gln1145His)), RECQL4(NM_004260.4):c.3435G>C (p.Q1145H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144511748C>G" "" "likely benign" "" "0000299294" "0" "10" "8" "145737086" "145737086" "subst" "0.00364493" "02329" "RECQL4_000059" "g.145737086C>T" "" "" "" "RECQL4(NM_004260.4):c.3480G>A (p.V1160=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144511703C>T" "" "benign" "" "0000299296" "0" "10" "8" "145736958" "145736958" "subst" "0.00111653" "02329" "RECQL4_000058" "g.145736958C>T" "" "" "" "RECQL4(NM_004260.4):c.3503-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144511575C>T" "" "benign" "" "0000299297" "0" "30" "8" "145742145" "145742145" "subst" "7.08935E-5" "02329" "RECQL4_000130" "g.145742145C>G" "" "" "" "RECQL4(NM_004260.4):c.358G>C (p.G120R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144516761C>G" "" "likely benign" "" "0000299298" "0" "30" "8" "145736832" "145736832" "subst" "0.00263891" "02329" "RECQL4_000055" "g.145736832G>A" "" "" "" "RECQL4(NM_004260.3):c.3609C>T (p.L1203=), RECQL4(NM_004260.3):c.3610C>T (p.(Pro1204Ser)), RECQL4(NM_004260.4):c.3609C>T (p.L1203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144511449G>A" "" "likely benign" "" "0000299299" "0" "10" "8" "145742038" "145742038" "subst" "0.00126978" "02329" "RECQL4_000129" "g.145742038G>C" "" "" "" "RECQL4(NM_004260.4):c.465C>G (p.V155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144516654G>C" "" "benign" "" "0000299300" "0" "10" "8" "145742011" "145742011" "subst" "0.00860162" "02329" "RECQL4_000128" "g.145742011C>T" "" "" "" "RECQL4(NM_004260.4):c.492G>A (p.E164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144516627C>T" "" "benign" "" "0000299301" "0" "30" "8" "145741888" "145741888" "subst" "0.00186418" "02329" "RECQL4_000126" "g.145741888G>C" "" "" "" "RECQL4(NM_004260.3):c.615C>G (p.P205=), RECQL4(NM_004260.4):c.615C>G (p.P205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144516504G>C" "" "likely benign" "" "0000299302" "0" "30" "8" "145741787" "145741787" "subst" "0.00101954" "02329" "RECQL4_000125" "g.145741787G>A" "" "" "" "RECQL4(NM_004260.3):c.716C>T (p.A239V), RECQL4(NM_004260.4):c.716C>T (p.A239V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144516403G>A" "" "likely benign" "" "0000299303" "0" "30" "8" "145741783" "145741783" "subst" "0" "02329" "RECQL4_000124" "g.145741783T>G" "" "" "" "RECQL4(NM_004260.3):c.720A>C (p.S240=), RECQL4(NM_004260.4):c.720A>C (p.S240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144516399T>G" "" "likely benign" "" "0000301415" "0" "30" "8" "145737295" "145737295" "subst" "0.000612035" "02326" "RECQL4_000064" "g.145737295C>T" "" "" "" "RECQL4(NM_004260.3):c.3392G>A (p.R1131K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144511912C>T" "" "likely benign" "" "0000306908" "0" "90" "8" "145741503" "145741503" "subst" "0" "01943" "RECQL4_000050" "g.145741503C>A" "" "" "" "RECQL4(NM_004260.3):c.1000G>T (p.E334*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144516119C>A" "" "pathogenic" "" "0000306909" "0" "50" "8" "145740572" "145740572" "subst" "0" "01943" "RECQL4_000109" "g.145740572C>T" "" "" "" "RECQL4(NM_004260.3):c.1445G>A (p.R482H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144515188C>T" "" "VUS" "" "0000306910" "0" "30" "8" "145740370" "145740370" "subst" "5.7901E-5" "01943" "RECQL4_000106" "g.145740370G>A" "" "" "" "RECQL4(NM_004260.3):c.1570C>T (p.P524S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144514986G>A" "" "likely benign" "" "0000306911" "0" "10" "8" "145742850" "145742850" "subst" "0.00364869" "01943" "RECQL4_000045" "g.145742850T>C" "" "" "" "RECQL4(NM_004260.3):c.161A>G (p.Q54R, p.(Gln54Arg)), RECQL4(NM_004260.4):c.161A>G (p.Q54R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144517466T>C" "" "benign" "" "0000306912" "0" "30" "8" "145739817" "145739817" "subst" "0.00203157" "01943" "RECQL4_000102" "g.145739817G>A" "" "" "" "RECQL4(NM_004260.3):c.1704+9C>T, RECQL4(NM_004260.4):c.1704+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144514433G>A" "" "likely benign" "" "0000306913" "0" "50" "8" "145739069" "145739069" "subst" "5.93652E-5" "01943" "RECQL4_000096" "g.145739069G>A" "" "" "" "RECQL4(NM_004260.3):c.2086C>T (p.R696C, p.(Arg696Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144513685G>A" "" "VUS" "" "0000306914" "0" "50" "8" "145739007" "145739007" "subst" "2.25536E-5" "01943" "RECQL4_000095" "g.145739007G>C" "" "" "" "RECQL4(NM_004260.3):c.2148C>G (p.I716M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144513623G>C" "" "VUS" "" "0000306915" "0" "30" "8" "145738805" "145738805" "subst" "0.000183996" "01943" "RECQL4_000092" "g.145738805G>A" "" "" "" "RECQL4(NM_004260.3):c.2260C>T (p.R754W, p.(Arg754Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144513421G>A" "" "likely benign" "" "0000306916" "0" "50" "8" "145738487" "145738487" "subst" "0" "01943" "RECQL4_000083" "g.145738487T>C" "" "" "" "RECQL4(NM_004260.3):c.2498A>G (p.H833R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144513104T>C" "" "VUS" "" "0000306917" "0" "30" "8" "145738441" "145738441" "subst" "0.0011331" "01943" "RECQL4_000082" "g.145738441G>A" "" "" "" "RECQL4(NM_004260.3):c.2544C>T (p.R848=), RECQL4(NM_004260.4):c.2544C>T (p.(Arg848=), p.R848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144513058G>A" "" "likely benign" "" "0000306918" "0" "50" "8" "145738257" "145738257" "subst" "7.22929E-5" "01943" "RECQL4_000077" "g.145738257C>T" "" "" "" "RECQL4(NM_004260.3):c.2728G>A (p.V910I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144512874C>T" "" "VUS" "" "0000306919" "0" "30" "8" "145738093" "145738093" "subst" "0.00192625" "01943" "RECQL4_000075" "g.145738093C>T" "" "" "" "RECQL4(NM_004260.3):c.2817G>A (p.A939=), RECQL4(NM_004260.4):c.2817G>A (p.A939=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144512710C>T" "" "likely benign" "" "0000306920" "0" "30" "8" "145737878" "145737878" "subst" "5.72452E-5" "01943" "RECQL4_000074" "g.145737878G>A" "" "" "" "RECQL4(NM_004260.3):c.2952C>T (p.S984=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144512495G>A" "" "likely benign" "" "0000306921" "0" "30" "8" "145737701" "145737701" "subst" "0.00409099" "01943" "RECQL4_000071" "g.145737701C>T" "" "" "" "RECQL4(NM_004260.3):c.3062G>A (p.R1021Q, p.(Arg1021Gln)), RECQL4(NM_004260.4):c.3062G>A (p.R1021Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144512318C>T" "" "likely benign" "" "0000306922" "0" "30" "8" "145742479" "145742479" "subst" "0.00666465" "01943" "RECQL4_000131" "g.145742479C>T" "" "" "" "RECQL4(NM_004260.3):c.309G>A (p.P103=), RECQL4(NM_004260.4):c.309G>A (p.P103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144517095C>T" "" "likely benign" "" "0000306923" "0" "30" "8" "145737545" "145737545" "subst" "3.75379E-5" "01943" "RECQL4_000068" "g.145737545G>A" "" "" "" "RECQL4(NM_004260.3):c.3218C>T (p.T1073I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144512162G>A" "" "likely benign" "" "0000306924" "0" "30" "8" "145737373" "145737373" "subst" "0.00482194" "01943" "RECQL4_000065" "g.145737373C>T" "" "" "" "RECQL4(NM_004260.3):c.3314G>A (p.G1105D, p.(Gly1105Asp)), RECQL4(NM_004260.4):c.3314G>A (p.G1105D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144511990C>T" "" "likely benign" "" "0000306925" "0" "30" "8" "145737123" "145737123" "subst" "0.00137746" "01943" "RECQL4_000060" "g.145737123G>A" "" "" "" "RECQL4(NM_004260.3):c.3443C>T (p.S1148F, p.(=)), RECQL4(NM_004260.4):c.3443C>T (p.S1148F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144511740G>A" "" "likely benign" "" "0000306926" "0" "30" "8" "145736832" "145736832" "subst" "0.00263891" "01943" "RECQL4_000055" "g.145736832G>A" "" "" "" "RECQL4(NM_004260.3):c.3609C>T (p.L1203=), RECQL4(NM_004260.3):c.3610C>T (p.(Pro1204Ser)), RECQL4(NM_004260.4):c.3609C>T (p.L1203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144511449G>A" "" "likely benign" "" "0000306927" "0" "30" "8" "145741787" "145741787" "subst" "0.00101954" "01943" "RECQL4_000125" "g.145741787G>A" "" "" "" "RECQL4(NM_004260.3):c.716C>T (p.A239V), RECQL4(NM_004260.4):c.716C>T (p.A239V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144516403G>A" "" "likely benign" "" "0000306928" "0" "30" "8" "145741618" "145741618" "subst" "4.07724E-6" "01943" "RECQL4_000121" "g.145741618C>T" "" "" "" "RECQL4(NM_004260.3):c.885G>A (p.E295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144516234C>T" "" "likely benign" "" "0000332461" "0" "30" "8" "145732032" "145732032" "subst" "0.000214751" "01804" "GPT_000003" "g.145732032G>A" "" "" "" "GPT(NM_005309.2):c.1280G>A (p.(Arg427His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144506649G>A" "" "likely benign" "" "0000332462" "0" "50" "8" "145732114" "145732114" "subst" "0.00444435" "01804" "GPT_000004" "g.145732114G>C" "" "" "" "GPT(NM_005309.2):c.1288G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144506731G>C" "" "VUS" "" "0000332464" "0" "30" "8" "145732151" "145732151" "subst" "0.00134835" "01804" "GPT_000005" "g.145732151G>A" "" "" "" "GPT(NM_005309.2):c.1325G>A (p.(Arg442His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144506768G>A" "" "likely benign" "" "0000332465" "0" "50" "8" "145732180" "145732180" "subst" "0.00455261" "01804" "GPT_000006" "g.145732180G>C" "" "" "" "GPT(NM_005309.2):c.1354G>C (p.(Val452Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144506797G>C" "" "VUS" "" "0000332467" "0" "30" "8" "145736082" "145736082" "subst" "0.00221995" "01804" "MFSD3_000001" "g.145736082T>C" "" "" "" "MFSD3(NM_138431.1):c.932T>C (p.(Met311Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144510699T>C" "" "likely benign" "" "0000332468" "0" "30" "8" "145736215" "145736215" "subst" "0.000876776" "01804" "MFSD3_000002" "g.145736215G>A" "" "" "" "MFSD3(NM_138431.1):c.994G>A (p.(Gly332Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144510832G>A" "" "likely benign" "" "0000332469" "0" "50" "8" "145736254" "145736254" "subst" "0.00155965" "01804" "MFSD3_000003" "g.145736254C>T" "" "" "" "MFSD3(NM_138431.1):c.1033C>T (p.(Arg345Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144510871C>T" "" "VUS" "" "0000332470" "0" "50" "8" "145736287" "145736287" "subst" "1.25749E-5" "01804" "MFSD3_000004" "g.145736287G>C" "" "" "" "MFSD3(NM_138431.1):c.1065+1G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144510904G>C" "" "VUS" "" "0000332471" "0" "50" "8" "145736910" "145736910" "subst" "0.000399974" "01804" "RECQL4_000056" "g.145736910G>A" "" "" "" "RECQL4(NM_004260.3):c.3531C>T (p.Y1177=), RECQL4(NM_004260.3):c.3532C>T (p.(Arg1178Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144511527G>A" "" "VUS" "" "0000332472" "0" "30" "8" "145737131" "145737131" "subst" "0.00293518" "01804" "RECQL4_000061" "g.145737131C>G" "" "" "" "RECQL4(NM_004260.3):c.3435G>C (p.Q1145H, p.(Gln1145His)), RECQL4(NM_004260.4):c.3435G>C (p.Q1145H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144511748C>G" "" "likely benign" "" "0000332473" "0" "50" "8" "145737458" "145737458" "subst" "0" "01804" "RECQL4_000066" "g.145737458G>A" "" "" "" "RECQL4(NM_004260.3):c.3238-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144512075G>A" "" "VUS" "" "0000332474" "0" "50" "8" "145737591" "145737591" "subst" "4.09202E-6" "01804" "RECQL4_000069" "g.145737591G>A" "" "" "" "RECQL4(NM_004260.3):c.3173C>T (p.(Pro1058Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144512208G>A" "" "VUS" "" "0000332475" "0" "50" "8" "145737836" "145737836" "subst" "0" "01804" "RECQL4_000072" "g.145737836C>A" "" "" "" "RECQL4(NM_004260.3):c.2995G>T (p.(Gly999Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144512453C>A" "" "VUS" "" "0000332476" "0" "50" "8" "145738162" "145738162" "subst" "0.000226114" "01804" "RECQL4_000076" "g.145738162C>A" "" "" "" "RECQL4(NM_004260.3):c.2756-8G>T, RECQL4(NM_004260.3):c.2757-8G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144512779C>A" "" "VUS" "" "0000332477" "0" "50" "8" "145738272" "145738272" "subst" "0" "01804" "RECQL4_000078" "g.145738272G>T" "" "" "" "RECQL4(NM_004260.3):c.2714C>A (p.(Pro905His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144512889G>T" "" "VUS" "" "0000332478" "0" "30" "8" "145738425" "145738430" "dup" "0" "01804" "RECQL4_000080" "g.145738425_145738430dup" "" "" "" "RECQL4(NM_004260.3):c.2569_2574dupTGCACC (p.C857_T858dup), RECQL4(NM_004260.3):c.2575_2576insTGCACC (p.(Cys857_Thr858dup)), RECQL4(NM_004260.4):c.2..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144513042_144513047dup" "" "likely benign" "" "0000332479" "0" "50" "8" "145738425" "145738430" "del" "0" "01804" "RECQL4_000081" "g.145738425_145738430del" "" "" "" "RECQL4(NM_004260.3):c.2570_2575del (p.(Leu857_His858del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144513042_144513047del" "" "VUS" "" "0000332480" "0" "50" "8" "145739069" "145739069" "subst" "0.00107517" "01804" "RECQL4_000097" "g.145739069G>T" "" "" "" "RECQL4(NM_004260.3):c.2086C>A (p.R696S, p.(Arg696Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144513685G>T" "" "VUS" "" "0000332484" "0" "30" "8" "145740707" "145740707" "subst" "0.00241121" "01804" "RECQL4_000111" "g.145740707C>T" "" "" "" "RECQL4(NM_004260.3):c.1390+3G>A, RECQL4(NM_004260.3):c.1390+3delinsA (p.?), RECQL4(NM_004260.4):c.1390+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144515323C>T" "" "likely benign" "" "0000332485" "0" "50" "8" "145740728" "145740728" "subst" "4.0788E-6" "01804" "RECQL4_000112" "g.145740728G>A" "" "" "" "RECQL4(NM_004260.3):c.1372C>T (p.(Pro458Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144515344G>A" "" "VUS" "" "0000332486" "0" "50" "8" "145740752" "145740752" "subst" "0.000293446" "01804" "RECQL4_000113" "g.145740752C>T" "" "" "" "RECQL4(NM_004260.3):c.1348G>A (p.(Val450Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144515368C>T" "" "VUS" "" "0000332487" "0" "50" "8" "145741168" "145741168" "subst" "0.000908035" "01804" "RECQL4_000116" "g.145741168G>C" "" "" "" "RECQL4(NM_004260.3):c.1238C>G (p.A413G, p.(Ala413Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144515784G>C" "" "VUS" "" "0000332488" "0" "50" "8" "145741169" "145741169" "subst" "0.000907961" "01804" "RECQL4_000117" "g.145741169C>T" "" "" "" "RECQL4(NM_004260.3):c.1237G>A (p.A413T, p.(Ala413Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144515785C>T" "" "VUS" "" "0000332489" "0" "30" "8" "145741187" "145741187" "subst" "0.000163353" "01804" "RECQL4_000118" "g.145741187C>T" "" "" "" "RECQL4(NM_004260.3):c.1219G>A (p.(Glu407Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144515803C>T" "" "likely benign" "" "0000332492" "0" "50" "8" "145741895" "145741895" "subst" "7.1344E-5" "01804" "RECQL4_000127" "g.145741895C>T" "" "" "" "RECQL4(NM_004260.3):c.608G>A (p.(Gly203Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144516511C>T" "" "VUS" "" "0000332493" "0" "30" "8" "145742799" "145742799" "subst" "0.0236621" "01804" "RECQL4_000044" "g.145742799T>C" "" "" "" "RECQL4(NM_004260.3):c.212A>G (p.(Glu71Gly)), RECQL4(NM_004260.4):c.212A>G (p.E71G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144517415T>C" "" "likely benign" "" "0000332494" "0" "30" "8" "145742850" "145742850" "subst" "0.00364869" "01804" "RECQL4_000045" "g.145742850T>C" "" "" "" "RECQL4(NM_004260.3):c.161A>G (p.Q54R, p.(Gln54Arg)), RECQL4(NM_004260.4):c.161A>G (p.Q54R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144517466T>C" "" "likely benign" "" "0000332496" "0" "50" "8" "145745747" "145745747" "subst" "0.00227131" "01804" "LRRC14_000002" "g.145745747A>T" "" "" "" "LRRC14(NM_001272036.1):c.455A>T (p.(Gln152Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144520363A>T" "" "VUS" "" "0000355075" "3" "70" "8" "145737527" "145737527" "subst" "0" "00571" "RECQL4_000134" "g.145737527C>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.144512144C>A" "" "likely pathogenic" "" "0000355079" "21" "70" "8" "145737812" "145737813" "del" "0" "00571" "RECQL4_000135" "g.145737812_145737813del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144512429_144512430del" "" "likely pathogenic" "" "0000355080" "3" "70" "8" "145737776" "145737776" "subst" "0" "00571" "RECQL4_000136" "g.145737776T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144512393T>C" "" "likely pathogenic" "" "0000355081" "0" "50" "8" "145738646" "145738654" "del" "0" "00571" "RECQL4_000137" "g.145738646_145738654del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.144513263_144513271del" "{CV-RCV:000234695}" "VUS" "" "0000500524" "0" "90" "8" "145739492" "145739492" "subst" "0" "00643" "RECQL4_000141" "g.145739492C>T" "" "{PMID:Fostira 2020:31300551}" "" "" "" "Germline" "" "" "0" "" "" "g.144514108C>T" "" "pathogenic" "" "0000534262" "0" "30" "8" "145736043" "145736043" "subst" "4.85032E-6" "01804" "RECQL4_000143" "g.145736043C>T" "" "" "" "MFSD3(NM_138431.1):c.893C>T (p.(Thr298Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144510660C>T" "" "likely benign" "" "0000534265" "0" "50" "8" "145736791" "145736791" "subst" "0.00143196" "02327" "RECQL4_000146" "g.145736791C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144511408C>T" "" "VUS" "" "0000534266" "0" "50" "8" "145736819" "145736819" "subst" "0.000582361" "01943" "RECQL4_000147" "g.145736819G>A" "" "" "" "RECQL4(NM_004260.3):c.3622C>T (p.R1208C), RECQL4(NM_004260.3):c.3623C>T (p.(Arg1208Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144511436G>A" "" "VUS" "" "0000534267" "0" "30" "8" "145736819" "145736819" "subst" "0.000582361" "01804" "RECQL4_000147" "g.145736819G>A" "" "" "" "RECQL4(NM_004260.3):c.3622C>T (p.R1208C), RECQL4(NM_004260.3):c.3623C>T (p.(Arg1208Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144511436G>A" "" "likely benign" "" "0000534268" "0" "50" "8" "145736832" "145736832" "subst" "0.00263891" "01804" "RECQL4_000055" "g.145736832G>A" "" "" "" "RECQL4(NM_004260.3):c.3609C>T (p.L1203=), RECQL4(NM_004260.3):c.3610C>T (p.(Pro1204Ser)), RECQL4(NM_004260.4):c.3609C>T (p.L1203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144511449G>A" "" "VUS" "" "0000534269" "0" "10" "8" "145736832" "145736832" "subst" "0.00263891" "02326" "RECQL4_000055" "g.145736832G>A" "" "" "" "RECQL4(NM_004260.3):c.3609C>T (p.L1203=), RECQL4(NM_004260.3):c.3610C>T (p.(Pro1204Ser)), RECQL4(NM_004260.4):c.3609C>T (p.L1203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144511449G>A" "" "benign" "" "0000534270" "0" "30" "8" "145736958" "145736959" "dup" "0" "02329" "RECQL4_000148" "g.145736958_145736959dup" "" "" "" "RECQL4(NM_004260.4):c.3503-17_3503-16insGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144511575_144511576dup" "" "likely benign" "" "0000534271" "0" "30" "8" "145737071" "145737071" "subst" "0.000273431" "01943" "RECQL4_000149" "g.145737071G>A" "" "" "" "RECQL4(NM_004260.3):c.3495C>T (p.H1165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144511688G>A" "" "likely benign" "" "0000534272" "0" "30" "8" "145737110" "145737110" "subst" "0" "01943" "RECQL4_000150" "g.145737110C>G" "" "" "" "RECQL4(NM_004260.3):c.3456G>C (p.E1152D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144511727C>G" "" "likely benign" "" "0000534273" "0" "30" "8" "145737123" "145737123" "subst" "0.00137746" "01804" "RECQL4_000060" "g.145737123G>A" "" "" "" "RECQL4(NM_004260.3):c.3443C>T (p.S1148F, p.(=)), RECQL4(NM_004260.4):c.3443C>T (p.S1148F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144511740G>A" "" "likely benign" "" "0000534274" "0" "30" "8" "145737131" "145737131" "subst" "0.00293518" "01943" "RECQL4_000061" "g.145737131C>G" "" "" "" "RECQL4(NM_004260.3):c.3435G>C (p.Q1145H, p.(Gln1145His)), RECQL4(NM_004260.4):c.3435G>C (p.Q1145H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144511748C>G" "" "likely benign" "" "0000534275" "0" "30" "8" "145737135" "145737135" "subst" "0.000110124" "01943" "RECQL4_000151" "g.145737135C>T" "" "" "" "RECQL4(NM_004260.3):c.3431G>A (p.R1144H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144511752C>T" "" "likely benign" "" "0000534276" "0" "30" "8" "145737285" "145737285" "subst" "0.0231346" "02327" "RECQL4_000152" "g.145737285T>C" "" "" "" "RECQL4(NM_004260.4):c.3393+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144511902T>C" "" "likely benign" "" "0000534277" "0" "10" "8" "145737285" "145737285" "subst" "0.0231346" "02329" "RECQL4_000152" "g.145737285T>C" "" "" "" "RECQL4(NM_004260.4):c.3393+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144511902T>C" "" "benign" "" "0000534278" "0" "10" "8" "145737286" "145737286" "subst" "0.475735" "02327" "RECQL4_000063" "g.145737286G>A" "" "" "" "RECQL4(NM_004260.4):c.3393+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144511903G>A" "" "benign" "" "0000534279" "0" "50" "8" "145737340" "145737340" "subst" "0.000110625" "01943" "RECQL4_000153" "g.145737340G>A" "" "" "" "RECQL4(NM_004260.3):c.3347C>T (p.P1116L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144511957G>A" "" "VUS" "" "0000534280" "0" "30" "8" "145737350" "145737350" "subst" "0.000816203" "01804" "RECQL4_000154" "g.145737350C>G" "" "" "" "RECQL4(NM_004260.3):c.3337G>C (p.G1113R), RECQL4(NM_004260.3):c.3338G>C (p.(Gly1113Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144511967C>G" "" "likely benign" "" "0000534281" "0" "30" "8" "145737373" "145737373" "subst" "0.00482194" "01804" "RECQL4_000065" "g.145737373C>T" "" "" "" "RECQL4(NM_004260.3):c.3314G>A (p.G1105D, p.(Gly1105Asp)), RECQL4(NM_004260.4):c.3314G>A (p.G1105D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144511990C>T" "" "likely benign" "" "0000534282" "0" "30" "8" "145737514" "145737514" "subst" "0.490081" "02327" "RECQL4_000067" "g.145737514G>A" "" "" "" "RECQL4(NM_004260.4):c.3236+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144512131G>A" "" "likely benign" "" "0000534283" "0" "30" "8" "145737544" "145737544" "subst" "2.92119E-5" "01943" "RECQL4_000155" "g.145737544G>C" "" "" "" "RECQL4(NM_004260.3):c.3219C>G (p.T1073=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144512161G>C" "" "likely benign" "" "0000534284" "0" "30" "8" "145737620" "145737620" "subst" "0.000424348" "01943" "RECQL4_000156" "g.145737620T>C" "" "" "" "RECQL4(NM_004260.3):c.3143A>G (p.K1048R), RECQL4(NM_004260.4):c.3143A>G (p.K1048R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144512237T>C" "" "likely benign" "" "0000534285" "0" "30" "8" "145737630" "145737630" "subst" "0.00106893" "01804" "RECQL4_000157" "g.145737630C>T" "" "" "" "RECQL4(NM_004260.3):c.3133G>A (p.A1045T), RECQL4(NM_004260.3):c.3134G>A (p.(Ala1045Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144512247C>T" "" "likely benign" "" "0000534286" "0" "50" "8" "145737651" "145737651" "subst" "0.000130528" "01943" "RECQL4_000158" "g.145737651G>A" "" "" "" "RECQL4(NM_004260.3):c.3112C>T (p.R1038C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144512268G>A" "" "VUS" "" "0000534287" "0" "30" "8" "145737701" "145737701" "subst" "0.00409099" "02326" "RECQL4_000071" "g.145737701C>T" "" "" "" "RECQL4(NM_004260.3):c.3062G>A (p.R1021Q, p.(Arg1021Gln)), RECQL4(NM_004260.4):c.3062G>A (p.R1021Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144512318C>T" "" "likely benign" "" "0000534288" "0" "10" "8" "145737705" "145737705" "subst" "0.00228092" "01943" "RECQL4_000159" "g.145737705C>T" "" "" "" "RECQL4(NM_004260.3):c.3058G>A (p.V1020M), RECQL4(NM_004260.4):c.3058G>A (p.(Val1020Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144512322C>T" "" "benign" "" "0000534289" "0" "10" "8" "145737816" "145737816" "subst" "0.467211" "02327" "RECQL4_000160" "g.145737816C>T" "" "" "" "RECQL4(NM_004260.4):c.3014G>A (p.R1005Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144512433C>T" "" "benign" "" "0000534290" "0" "10" "8" "145737816" "145737816" "subst" "0.467211" "02325" "RECQL4_000160" "g.145737816C>T" "" "" "" "RECQL4(NM_004260.4):c.3014G>A (p.R1005Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144512433C>T" "" "benign" "" "0000534291" "0" "50" "8" "145737820" "145737820" "subst" "0.000304956" "01804" "RECQL4_000161" "g.145737820G>A" "" "" "" "RECQL4(NM_004260.3):c.3010C>T (p.R1004W), RECQL4(NM_004260.3):c.3011C>T (p.(Arg1004Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144512437G>A" "" "VUS" "" "0000534292" "0" "30" "8" "145738093" "145738093" "subst" "0.00192625" "02326" "RECQL4_000075" "g.145738093C>T" "" "" "" "RECQL4(NM_004260.3):c.2817G>A (p.A939=), RECQL4(NM_004260.4):c.2817G>A (p.A939=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144512710C>T" "" "likely benign" "" "0000534293" "0" "30" "8" "145738102" "145738102" "subst" "4.08918E-6" "01943" "RECQL4_000162" "g.145738102C>T" "" "" "" "RECQL4(NM_004260.3):c.2808G>A (p.E936=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144512719C>T" "" "likely benign" "" "0000534294" "0" "30" "8" "145738126" "145738126" "subst" "0" "01943" "RECQL4_000163" "g.145738126C>T" "" "" "" "RECQL4(NM_004260.3):c.2784G>A (p.E928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144512743C>T" "" "likely benign" "" "0000534295" "0" "30" "8" "145738214" "145738214" "subst" "8.53191E-6" "02329" "RECQL4_000164" "g.145738214A>G" "" "" "" "RECQL4(NM_004260.4):c.2755+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144512831A>G" "" "likely benign" "" "0000534296" "0" "50" "8" "145738349" "145738349" "subst" "0.0075694" "01804" "RECQL4_000079" "g.145738349G>T" "" "" "" "RECQL4(NM_004260.3):c.2636C>A (p.P879H, p.(Pro879His)), RECQL4(NM_004260.4):c.2636C>A (p.P879H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144512966G>T" "" "VUS" "" "0000534297" "0" "30" "8" "145738370" "145738370" "subst" "0" "01943" "RECQL4_000165" "g.145738370C>T" "" "" "" "RECQL4(NM_004260.3):c.2615G>A (p.R872K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144512987C>T" "" "likely benign" "" "0000534298" "0" "30" "8" "145738375" "145738375" "subst" "3.97082E-5" "01804" "RECQL4_000166" "g.145738375C>G" "" "" "" "RECQL4(NM_004260.3):c.2611G>C (p.(Gly871Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144512992C>G" "" "likely benign" "" "0000534299" "0" "30" "8" "145738400" "145738400" "subst" "6.75706E-5" "02327" "RECQL4_000167" "g.145738400G>A" "" "" "" "RECQL4(NM_004260.3):c.2585C>T (p.S862L), RECQL4(NM_004260.4):c.2585C>T (p.(Ser862Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513017G>A" "" "likely benign" "" "0000534301" "0" "30" "8" "145738441" "145738441" "subst" "0.0011331" "01804" "RECQL4_000082" "g.145738441G>A" "" "" "" "RECQL4(NM_004260.3):c.2544C>T (p.R848=), RECQL4(NM_004260.4):c.2544C>T (p.(Arg848=), p.R848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513058G>A" "" "likely benign" "" "0000534302" "0" "30" "8" "145738527" "145738527" "subst" "0" "01943" "RECQL4_000169" "g.145738527G>A" "" "" "" "RECQL4(NM_004260.3):c.2464-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513144G>A" "" "likely benign" "" "0000534303" "0" "10" "8" "145738583" "145738583" "subst" "0" "02327" "RECQL4_000170" "g.145738583G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513200G>T" "" "benign" "" "0000534305" "0" "30" "8" "145738593" "145738593" "del" "0" "02326" "RECQL4_000171" "g.145738593del" "" "" "" "RECQL4(NM_004260.3):c.2463+20delC, RECQL4(NM_004260.4):c.2463+20delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513210del" "" "likely benign" "" "0000534306" "0" "10" "8" "145738594" "145738594" "subst" "0" "01943" "RECQL4_000172" "g.145738594T>G" "" "" "" "RECQL4(NM_004260.3):c.2463+7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513211T>G" "" "benign" "" "0000534308" "0" "10" "8" "145738595" "145738595" "subst" "0.000749716" "01943" "RECQL4_000173" "g.145738595G>A" "" "" "" "RECQL4(NM_004260.3):c.2463+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513212G>A" "" "benign" "" "0000534309" "0" "30" "8" "145738604" "145738604" "subst" "0.000829779" "01943" "RECQL4_000089" "g.145738604G>A" "" "" "" "RECQL4(NM_004260.3):c.2460C>T (p.P820=), RECQL4(NM_004260.3):c.2461C>T (p.(Pro821Ser)), RECQL4(NM_004260.4):c.2460C>T (p.P820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513221G>A" "" "likely benign" "" "0000534310" "0" "30" "8" "145738604" "145738604" "subst" "0.000829779" "01804" "RECQL4_000089" "g.145738604G>A" "" "" "" "RECQL4(NM_004260.3):c.2460C>T (p.P820=), RECQL4(NM_004260.3):c.2461C>T (p.(Pro821Ser)), RECQL4(NM_004260.4):c.2460C>T (p.P820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513221G>A" "" "likely benign" "" "0000534311" "0" "30" "8" "145738604" "145738604" "subst" "0.000829779" "02326" "RECQL4_000089" "g.145738604G>A" "" "" "" "RECQL4(NM_004260.3):c.2460C>T (p.P820=), RECQL4(NM_004260.3):c.2461C>T (p.(Pro821Ser)), RECQL4(NM_004260.4):c.2460C>T (p.P820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513221G>A" "" "likely benign" "" "0000534312" "0" "30" "8" "145738640" "145738640" "subst" "2.32534E-5" "01943" "RECQL4_000174" "g.145738640G>A" "" "" "" "RECQL4(NM_004260.3):c.2424C>T (p.D808=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513257G>A" "" "likely benign" "" "0000534313" "0" "90" "8" "145738650" "145738650" "dup" "0" "02327" "RECQL4_000175" "g.145738650dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513267dup" "" "pathogenic" "" "0000534315" "0" "30" "8" "145738669" "145738669" "subst" "0.0160257" "01804" "RECQL4_000090" "g.145738669C>T" "" "" "" "RECQL4(NM_004260.3):c.2395G>A (p.(Val799Met), p.V799M), RECQL4(NM_004260.4):c.2395G>A (p.V799M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513286C>T" "" "likely benign" "" "0000534316" "0" "50" "8" "145738669" "145738669" "subst" "0.0160257" "02327" "RECQL4_000090" "g.145738669C>T" "" "" "" "RECQL4(NM_004260.3):c.2395G>A (p.(Val799Met), p.V799M), RECQL4(NM_004260.4):c.2395G>A (p.V799M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513286C>T" "" "VUS" "" "0000534317" "0" "10" "8" "145738669" "145738669" "subst" "0.0160257" "02325" "RECQL4_000090" "g.145738669C>T" "" "" "" "RECQL4(NM_004260.3):c.2395G>A (p.(Val799Met), p.V799M), RECQL4(NM_004260.4):c.2395G>A (p.V799M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513286C>T" "" "benign" "" "0000534318" "0" "10" "8" "145738669" "145738669" "subst" "0.0160257" "02326" "RECQL4_000090" "g.145738669C>T" "" "" "" "RECQL4(NM_004260.3):c.2395G>A (p.(Val799Met), p.V799M), RECQL4(NM_004260.4):c.2395G>A (p.V799M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513286C>T" "" "benign" "" "0000534319" "0" "30" "8" "145738792" "145738792" "subst" "4.22433E-5" "01943" "RECQL4_000177" "g.145738792C>T" "" "" "" "RECQL4(NM_004260.3):c.2273G>A (p.R758Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513408C>T" "" "likely benign" "" "0000534320" "0" "90" "8" "145738796" "145738796" "subst" "0.000117976" "02327" "RECQL4_000002" "g.145738796G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513412G>A" "" "pathogenic" "" "0000534321" "0" "50" "8" "145738802" "145738802" "subst" "0" "02327" "RECQL4_000178" "g.145738802G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513418G>A" "" "VUS" "" "0000534322" "0" "30" "8" "145738805" "145738805" "subst" "0.000183996" "01804" "RECQL4_000092" "g.145738805G>A" "" "" "" "RECQL4(NM_004260.3):c.2260C>T (p.R754W, p.(Arg754Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513421G>A" "" "likely benign" "" "0000534323" "0" "30" "8" "145738842" "145738842" "subst" "0.000473139" "01943" "RECQL4_000179" "g.145738842G>A" "" "" "" "RECQL4(NM_004260.3):c.2223C>T (p.A741=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513458G>A" "" "likely benign" "" "0000534324" "0" "30" "8" "145738861" "145738861" "subst" "2.0705E-5" "01804" "RECQL4_000180" "g.145738861C>T" "" "" "" "RECQL4(NM_004260.3):c.2204G>A (p.(Arg735His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513477C>T" "" "likely benign" "" "0000534325" "0" "90" "8" "145738994" "145738994" "subst" "3.45191E-5" "02327" "RECQL4_000181" "g.145738994G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513610G>A" "" "pathogenic" "" "0000534326" "0" "50" "8" "145739073" "145739073" "subst" "7.95429E-5" "01943" "RECQL4_000182" "g.145739073G>A" "" "" "" "RECQL4(NM_004260.3):c.2082C>T (p.G694=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513689G>A" "" "VUS" "" "0000534327" "0" "30" "8" "145739105" "145739107" "del" "0" "02326" "RECQL4_000183" "g.145739105_145739107del" "" "" "" "RECQL4(NM_004260.3):c.2059-8_2059-6delCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513721_144513723del" "" "likely benign" "" "0000534328" "0" "30" "8" "145739404" "145739404" "subst" "5.75308E-5" "02326" "RECQL4_000184" "g.145739404G>A" "" "" "" "RECQL4(NM_004260.3):c.1966C>T (p.L656=), RECQL4(NM_004260.4):c.1966C>T (p.L656=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144514020G>A" "" "likely benign" "" "0000534329" "0" "30" "8" "145739416" "145739416" "subst" "0.00243856" "01943" "RECQL4_000100" "g.145739416C>T" "" "" "" "RECQL4(NM_004260.3):c.1954G>A (p.V652M, p.(Val652Met)), RECQL4(NM_004260.4):c.1954G>A (p.V652M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144514032C>T" "" "likely benign" "" "0000534330" "0" "50" "8" "145739583" "145739583" "subst" "0.000564357" "02327" "RECQL4_000185" "g.145739583C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144514199C>T" "" "VUS" "" "0000534331" "0" "50" "8" "145739598" "145739598" "subst" "6.98996E-5" "02327" "RECQL4_000186" "g.145739598C>T" "" "" "" "RECQL4(NM_004260.3):c.1853G>A (p.R618Q), RECQL4(NM_004260.4):c.1853G>A (p.(Arg618Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144514214C>T" "" "VUS" "" "0000534332" "0" "30" "8" "145739611" "145739611" "subst" "0" "01804" "RECQL4_000187" "g.145739611A>G" "" "" "" "RECQL4(NM_004260.3):c.1840T>C (p.(Ser614Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144514227A>G" "" "likely benign" "" "0000534333" "0" "30" "8" "145739631" "145739631" "subst" "8.21085E-6" "01804" "RECQL4_000188" "g.145739631G>A" "" "" "" "RECQL4(NM_004260.3):c.1820C>T (p.(Ala607Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144514247G>A" "" "likely benign" "" "0000534334" "0" "50" "8" "145739731" "145739731" "subst" "8.7925E-5" "02325" "RECQL4_000189" "g.145739731C>T" "" "" "" "RECQL4(NM_004260.4):c.1720G>A (p.(Val574Ile), p.V574I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144514347C>T" "" "VUS" "" "0000534335" "0" "30" "8" "145739904" "145739904" "subst" "4.14082E-6" "01943" "RECQL4_000190" "g.145739904A>G" "" "" "" "RECQL4(NM_004260.3):c.1626T>C (p.S542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144514520A>G" "" "likely benign" "" "0000534336" "0" "30" "8" "145739917" "145739917" "subst" "0.00136036" "01943" "RECQL4_000191" "g.145739917T>C" "" "" "" "RECQL4(NM_004260.3):c.1621-8A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144514533T>C" "" "likely benign" "" "0000534337" "0" "30" "8" "145739917" "145739917" "subst" "0.00136036" "01804" "RECQL4_000191" "g.145739917T>C" "" "" "" "RECQL4(NM_004260.3):c.1621-8A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144514533T>C" "" "likely benign" "" "0000534338" "0" "30" "8" "145739917" "145739917" "subst" "0.00136036" "02326" "RECQL4_000191" "g.145739917T>C" "" "" "" "RECQL4(NM_004260.3):c.1621-8A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144514533T>C" "" "likely benign" "" "0000534339" "0" "10" "8" "145739924" "145739924" "subst" "0.476835" "02327" "RECQL4_000104" "g.145739924G>A" "" "" "" "RECQL4(NM_004260.4):c.1621-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144514540G>A" "" "benign" "" "0000534340" "0" "90" "8" "145740367" "145740367" "del" "0.000238742" "02327" "RECQL4_000105" "g.145740367del" "" "" "" "RECQL4(NM_004260.3):c.1573delT (p.C525Afs*33), RECQL4(NM_004260.4):c.1573delT (p.C525Afs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144514983del" "" "pathogenic" "" "0000534342" "0" "30" "8" "145740392" "145740392" "subst" "7.89253E-5" "01943" "RECQL4_000193" "g.145740392C>T" "" "" "" "RECQL4(NM_004260.3):c.1548G>A (p.A516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144515008C>T" "" "likely benign" "" "0000534343" "0" "90" "8" "145740627" "145740627" "subst" "4.10494E-5" "02327" "RECQL4_000037" "g.145740627C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144515243C>T" "" "pathogenic" "" "0000534344" "0" "30" "8" "145740707" "145740707" "subst" "0.00241121" "02326" "RECQL4_000111" "g.145740707C>T" "" "" "" "RECQL4(NM_004260.3):c.1390+3G>A, RECQL4(NM_004260.3):c.1390+3delinsA (p.?), RECQL4(NM_004260.4):c.1390+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144515323C>T" "" "likely benign" "" "0000534345" "0" "30" "8" "145740707" "145740707" "subst" "0.00241121" "02329" "RECQL4_000111" "g.145740707C>T" "" "" "" "RECQL4(NM_004260.3):c.1390+3G>A, RECQL4(NM_004260.3):c.1390+3delinsA (p.?), RECQL4(NM_004260.4):c.1390+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144515323C>T" "" "likely benign" "" "0000534346" "0" "90" "8" "145740708" "145740708" "del" "0.000400507" "02327" "RECQL4_000194" "g.145740708del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144515324del" "" "pathogenic" "" "0000534348" "0" "30" "8" "145741142" "145741142" "subst" "0.0241596" "01804" "RECQL4_000115" "g.145741142T>A" "" "" "" "RECQL4(NM_004260.3):c.1258+6A>T (p.(=)), RECQL4(NM_004260.4):c.1258+6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144515758T>A" "" "likely benign" "" "0000534349" "0" "10" "8" "145741142" "145741142" "subst" "0.0241596" "02327" "RECQL4_000115" "g.145741142T>A" "" "" "" "RECQL4(NM_004260.3):c.1258+6A>T (p.(=)), RECQL4(NM_004260.4):c.1258+6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144515758T>A" "" "benign" "" "0000534350" "0" "30" "8" "145741168" "145741168" "subst" "0.000908035" "02326" "RECQL4_000116" "g.145741168G>C" "" "" "" "RECQL4(NM_004260.3):c.1238C>G (p.A413G, p.(Ala413Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144515784G>C" "" "likely benign" "" "0000534351" "0" "30" "8" "145741169" "145741169" "subst" "0.000907961" "02326" "RECQL4_000117" "g.145741169C>T" "" "" "" "RECQL4(NM_004260.3):c.1237G>A (p.A413T, p.(Ala413Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144515785C>T" "" "likely benign" "" "0000534352" "0" "50" "8" "145741236" "145741236" "subst" "0.000146978" "02327" "RECQL4_000195" "g.145741236A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144515852A>G" "" "VUS" "" "0000534353" "0" "90" "8" "145741257" "145741257" "subst" "0" "02327" "RECQL4_000196" "g.145741257C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144515873C>T" "" "pathogenic" "" "0000534354" "0" "30" "8" "145741283" "145741283" "subst" "4.09873E-6" "01943" "RECQL4_000197" "g.145741283T>C" "" "" "" "RECQL4(NM_004260.3):c.1132-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144515899T>C" "" "likely benign" "" "0000534355" "0" "30" "8" "145741363" "145741363" "subst" "1.63973E-5" "01943" "RECQL4_000198" "g.145741363C>T" "" "" "" "RECQL4(NM_004260.3):c.1131+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144515979C>T" "" "likely benign" "" "0000534356" "0" "30" "8" "145741432" "145741432" "subst" "4.07352E-6" "01943" "RECQL4_000199" "g.145741432G>A" "" "" "" "RECQL4(NM_004260.3):c.1071C>T (p.N357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144516048G>A" "" "likely benign" "" "0000534357" "0" "90" "8" "145741454" "145741455" "del" "7.73735E-5" "01804" "RECQL4_000140" "g.145741454_145741455del" "" "" "" "RECQL4(NM_004260.3):c.1048_1049del (p.(Arg350Glyfs*21)), RECQL4(NM_004260.4):c.1048_1049delAG (p.R350Gfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144516070_144516071del" "" "pathogenic" "" "0000534358" "0" "90" "8" "145741454" "145741455" "del" "7.73735E-5" "02327" "RECQL4_000140" "g.145741454_145741455del" "" "" "" "RECQL4(NM_004260.3):c.1048_1049del (p.(Arg350Glyfs*21)), RECQL4(NM_004260.4):c.1048_1049delAG (p.R350Gfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144516070_144516071del" "" "pathogenic" "" "0000534359" "0" "10" "8" "145741702" "145741702" "subst" "0.437446" "02327" "RECQL4_000122" "g.145741702C>G" "" "" "" "RECQL4(NM_004260.4):c.801G>C (p.E267D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144516318C>G" "" "benign" "" "0000534361" "0" "30" "8" "145741748" "145741748" "subst" "0.00538177" "01804" "RECQL4_000201" "g.145741748G>A" "" "" "" "RECQL4(NM_004260.3):c.755C>T (p.(Pro252Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144516364G>A" "" "likely benign" "" "0000534362" "0" "10" "8" "145741765" "145741765" "subst" "0.443992" "02327" "RECQL4_000123" "g.145741765G>A" "" "" "" "RECQL4(NM_004260.4):c.738C>T (p.S246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144516381G>A" "" "benign" "" "0000534363" "0" "30" "8" "145741780" "145741780" "subst" "0" "01943" "RECQL4_000202" "g.145741780G>C" "" "" "" "RECQL4(NM_004260.3):c.723C>G (p.A241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144516396G>C" "" "likely benign" "" "0000534364" "0" "30" "8" "145741896" "145741896" "subst" "4.19386E-6" "01804" "RECQL4_000203" "g.145741896C>T" "" "" "" "RECQL4(NM_004260.3):c.607G>A (p.(Gly203Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144516512C>T" "" "likely benign" "" "0000534366" "0" "30" "8" "145741960" "145741960" "subst" "0.00359007" "01943" "RECQL4_000205" "g.145741960C>T" "" "" "" "RECQL4(NM_004260.3):c.543G>A (p.Q181=), RECQL4(NM_004260.4):c.543G>A (p.Q181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144516576C>T" "" "likely benign" "" "0000534367" "0" "30" "8" "145742156" "145742156" "subst" "0.000535995" "01943" "RECQL4_000206" "g.145742156G>A" "" "" "" "RECQL4(NM_004260.3):c.355-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144516772G>A" "" "likely benign" "" "0000534368" "0" "50" "8" "145742480" "145742480" "subst" "0.000592834" "01943" "RECQL4_000207" "g.145742480G>A" "" "" "" "RECQL4(NM_004260.3):c.308C>T (p.P103L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144517096G>A" "" "VUS" "" "0000534369" "0" "30" "8" "145742794" "145742794" "del" "0" "02327" "RECQL4_000208" "g.145742794del" "" "" "" "RECQL4(NM_004260.3):c.213+6delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144517410del" "" "likely benign" "" "0000534370" "0" "10" "8" "145742879" "145742879" "subst" "0.53651" "02327" "RECQL4_000209" "g.145742879T>C" "" "" "" "RECQL4(NM_004260.4):c.132A>G (p.E44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144517495T>C" "" "benign" "" "0000534371" "0" "10" "8" "145742879" "145742879" "subst" "0.53651" "02325" "RECQL4_000209" "g.145742879T>C" "" "" "" "RECQL4(NM_004260.4):c.132A>G (p.E44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144517495T>C" "" "benign" "" "0000534372" "0" "30" "8" "145743149" "145743149" "subst" "0.000111185" "01804" "RECQL4_000210" "g.145743149A>C" "" "" "" "RECQL4(NM_004260.3):c.20T>G (p.(Val7Gly), p.V7G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144517765A>C" "" "likely benign" "" "0000611533" "0" "30" "8" "145737904" "145737904" "subst" "3.26848E-5" "01943" "RECQL4_000215" "g.145737904C>T" "" "" "" "RECQL4(NM_004260.3):c.2926G>A (p.E976K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144512521C>T" "" "likely benign" "" "0000611534" "0" "50" "8" "145738238" "145738238" "subst" "0.000275451" "01943" "RECQL4_000216" "g.145738238G>A" "" "" "" "RECQL4(NM_004260.3):c.2747C>T (p.P916L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144512855G>A" "" "VUS" "" "0000611535" "0" "10" "8" "145738349" "145738349" "subst" "0.0075694" "01943" "RECQL4_000079" "g.145738349G>T" "" "" "" "RECQL4(NM_004260.3):c.2636C>A (p.P879H, p.(Pro879His)), RECQL4(NM_004260.4):c.2636C>A (p.P879H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144512966G>T" "" "benign" "" "0000611536" "0" "50" "8" "145738435" "145738435" "subst" "0" "01943" "RECQL4_000217" "g.145738435G>T" "" "" "" "RECQL4(NM_004260.3):c.2550C>A (p.F850L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513052G>T" "" "VUS" "" "0000611537" "0" "30" "8" "145738591" "145738591" "subst" "0" "01943" "RECQL4_000218" "g.145738591G>A" "" "" "" "RECQL4(NM_004260.3):c.2463+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513208G>A" "" "likely benign" "" "0000611538" "0" "50" "8" "145738647" "145738647" "subst" "0.000110864" "01804" "RECQL4_000219" "g.145738647C>T" "" "" "" "RECQL4(NM_004260.3):c.2418G>A (p.(Gly806Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513264C>T" "" "VUS" "" "0000611539" "0" "30" "8" "145738700" "145738700" "subst" "4.35036E-6" "01804" "RECQL4_000220" "g.145738700A>C" "" "" "" "RECQL4(NM_004260.3):c.2365T>G (p.(His788Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513317A>C" "" "likely benign" "" "0000611540" "0" "50" "8" "145738767" "145738767" "del" "0" "01804" "RECQL4_000221" "g.145738767del" "" "" "" "RECQL4(NM_004260.3):c.2300del (p.(Gly767ValfsTer443))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513384del" "" "VUS" "" "0000611541" "0" "50" "8" "145739029" "145739029" "subst" "0" "01943" "RECQL4_000222" "g.145739029C>T" "" "" "" "RECQL4(NM_004260.3):c.2126G>A (p.R709Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513645C>T" "" "VUS" "" "0000611542" "0" "30" "8" "145739416" "145739416" "subst" "0.00243856" "01804" "RECQL4_000100" "g.145739416C>T" "" "" "" "RECQL4(NM_004260.3):c.1954G>A (p.V652M, p.(Val652Met)), RECQL4(NM_004260.4):c.1954G>A (p.V652M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144514032C>T" "" "likely benign" "" "0000611543" "0" "50" "8" "145739846" "145739846" "subst" "0.000278028" "01943" "RECQL4_000223" "g.145739846G>A" "" "" "" "RECQL4(NM_004260.3):c.1684C>T (p.R562W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144514462G>A" "" "VUS" "" "0000611544" "0" "30" "8" "145740375" "145740375" "subst" "0.00647082" "01804" "RECQL4_000107" "g.145740375C>T" "" "" "" "RECQL4(NM_004260.3):c.1565G>A (p.(Arg522His), p.R522H), RECQL4(NM_004260.4):c.1565G>A (p.R522H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144514991C>T" "" "likely benign" "" "0000611545" "0" "30" "8" "145740707" "145740707" "subst" "0.00241121" "02327" "RECQL4_000111" "g.145740707C>T" "" "" "" "RECQL4(NM_004260.3):c.1390+3G>A, RECQL4(NM_004260.3):c.1390+3delinsA (p.?), RECQL4(NM_004260.4):c.1390+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144515323C>T" "" "likely benign" "" "0000611546" "0" "30" "8" "145741455" "145741455" "subst" "8.14498E-6" "01943" "RECQL4_000225" "g.145741455T>C" "" "" "" "RECQL4(NM_004260.3):c.1048A>G (p.R350G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144516071T>C" "" "likely benign" "" "0000611547" "0" "50" "8" "145742451" "145742451" "subst" "0.000220731" "01943" "RECQL4_000227" "g.145742451G>T" "" "" "" "RECQL4(NM_004260.3):c.337C>A (p.L113M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144517067G>T" "" "VUS" "" "0000622026" "0" "50" "8" "145737147" "145737147" "subst" "4.48859E-5" "02325" "RECQL4_000214" "g.145737147C>T" "" "" "" "RECQL4(NM_004260.4):c.3419G>A (p.R1140H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144511764C>T" "" "VUS" "" "0000622027" "0" "30" "8" "145737863" "145737863" "subst" "0.000237256" "02326" "RECQL4_000073" "g.145737863C>T" "" "" "" "RECQL4(NM_004260.3):c.2967G>A (p.M989I), RECQL4(NM_004260.4):c.2967G>A (p.M989I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144512480C>T" "" "likely benign" "" "0000622028" "0" "30" "8" "145740619" "145740619" "subst" "0.00122331" "01943" "RECQL4_000224" "g.145740619C>T" "" "" "" "RECQL4(NM_004260.3):c.1398G>A (p.P466=), RECQL4(NM_004260.4):c.1398G>A (p.P466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144515235C>T" "" "likely benign" "" "0000622029" "0" "50" "8" "145741473" "145741473" "subst" "1.62897E-5" "01943" "RECQL4_000226" "g.145741473G>A" "" "" "" "RECQL4(NM_004260.3):c.1030C>T (p.R344W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144516089G>A" "" "VUS" "" "0000622030" "0" "30" "8" "145743032" "145743032" "subst" "0.00015163" "02326" "RECQL4_000228" "g.145743032C>A" "" "" "" "RECQL4(NM_004260.3):c.85-13G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144517648C>A" "" "likely benign" "" "0000652453" "1" "30" "8" "145737373" "145737373" "subst" "0.00482194" "03575" "RECQL4_000065" "g.145737373C>T" "24/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "24 heterozygous; {DB:CLININrs36078464}\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs36078464" "0" "" "" "g.144511990C>T" "" "likely benign" "" "0000652454" "1" "10" "8" "145738669" "145738669" "subst" "0.0160257" "03575" "RECQL4_000090" "g.145738669C>T" "27/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "27 heterozygous, no homozygous; {DB:CLININrs34293591}\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs34293591" "0" "" "" "g.144513286C>T" "" "benign" "" "0000652455" "1" "10" "8" "145738687" "145738687" "subst" "0.00971049" "03575" "RECQL4_000229" "g.145738687G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs35098923}\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs35098923" "0" "" "" "g.144513304G>A" "" "benign" "" "0000652456" "1" "10" "8" "145740375" "145740375" "subst" "0.00647082" "03575" "RECQL4_000107" "g.145740375C>T" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs35842750}" "Germline" "" "rs35842750" "0" "" "" "g.144514991C>T" "" "benign" "" "0000652457" "1" "10" "8" "145740376" "145740376" "subst" "0.0166969" "03575" "RECQL4_000230" "g.145740376G>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs35407712}" "Germline" "" "rs35407712" "0" "" "" "g.144514992G>A" "" "benign" "" "0000652458" "1" "30" "8" "145741989" "145741989" "subst" "0.000183407" "03575" "RECQL4_000231" "g.145741989G>A" "1/2788 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs188859497}" "Germline" "" "rs188859497" "0" "" "" "g.144516605G>A" "" "likely benign" "" "0000653462" "0" "70" "8" "145738994" "145738994" "subst" "3.45191E-5" "01164" "RECQL4_000181" "g.145738994G>A" "" "" "" "" "ACMG: PVS1,PM2; BC (invasive, ductal) at age 49y, mother BC at age 70y, 2 aunts (ms) BC at age 65y and 69y, respectively" "Germline" "" "rs746691436" "0" "" "" "g.144513610G>A" "" "likely pathogenic" "ACMG" "0000656040" "0" "30" "8" "145736819" "145736819" "subst" "0.000582361" "02326" "RECQL4_000147" "g.145736819G>A" "" "" "" "RECQL4(NM_004260.3):c.3622C>T (p.R1208C), RECQL4(NM_004260.3):c.3623C>T (p.(Arg1208Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144511436G>A" "" "likely benign" "" "0000656041" "0" "30" "8" "145737071" "145737071" "subst" "0.000273431" "02326" "RECQL4_000149" "g.145737071G>A" "" "" "" "RECQL4(NM_004260.3):c.3495C>T (p.H1165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144511688G>A" "" "likely benign" "" "0000656044" "0" "30" "8" "145738261" "145738261" "subst" "0.000218802" "01943" "RECQL4_000232" "g.145738261A>G" "" "" "" "RECQL4(NM_004260.3):c.2724T>C (p.L908=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144512878A>G" "" "likely benign" "" "0000656045" "0" "90" "8" "145738492" "145738493" "del" "7.80861E-5" "01943" "RECQL4_000003" "g.145738492_145738493del" "" "" "" "RECQL4(NM_004260.3):c.2492_2493delAT (p.H831Rfs*52), RECQL4(NM_004260.4):c.2492_2493del (p.(His831Argfs*52))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513109_144513110del" "" "pathogenic" "" "0000656046" "0" "30" "8" "145738595" "145738595" "subst" "0.000749716" "02326" "RECQL4_000173" "g.145738595G>A" "" "" "" "RECQL4(NM_004260.3):c.2463+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513212G>A" "" "likely benign" "" "0000656047" "0" "50" "8" "145738814" "145738814" "subst" "3.33289E-5" "01943" "RECQL4_000233" "g.145738814G>A" "" "" "" "RECQL4(NM_004260.3):c.2251C>T (p.R751W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513430G>A" "" "VUS" "" "0000656048" "0" "30" "8" "145739375" "145739375" "subst" "0" "02326" "RECQL4_000234" "g.145739375G>A" "" "" "" "RECQL4(NM_004260.3):c.1995C>T (p.H665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144513991G>A" "" "likely benign" "" "0000656049" "0" "30" "8" "145739609" "145739609" "subst" "4.10873E-6" "01943" "RECQL4_000235" "g.145739609G>A" "" "" "" "RECQL4(NM_004260.3):c.1842C>T (p.S614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144514225G>A" "" "likely benign" "" "0000656050" "0" "30" "8" "145739817" "145739817" "subst" "0.00203157" "02326" "RECQL4_000102" "g.145739817G>A" "" "" "" "RECQL4(NM_004260.3):c.1704+9C>T, RECQL4(NM_004260.4):c.1704+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144514433G>A" "" "likely benign" "" "0000656051" "0" "30" "8" "145739847" "145739847" "subst" "0" "01943" "RECQL4_000236" "g.145739847T>C" "" "" "" "RECQL4(NM_004260.3):c.1683A>G (p.Q561=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144514463T>C" "" "likely benign" "" "0000656052" "0" "50" "8" "145740356" "145740356" "subst" "0" "01943" "RECQL4_000237" "g.145740356C>T" "" "" "" "RECQL4(NM_004260.3):c.1584G>A (p.L528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144514972C>T" "" "VUS" "" "0000656053" "0" "50" "8" "145741168" "145741168" "subst" "0.000908035" "01943" "RECQL4_000116" "g.145741168G>C" "" "" "" "RECQL4(NM_004260.3):c.1238C>G (p.A413G, p.(Ala413Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144515784G>C" "" "VUS" "" "0000656054" "0" "50" "8" "145741169" "145741169" "subst" "0.000907961" "01943" "RECQL4_000117" "g.145741169C>T" "" "" "" "RECQL4(NM_004260.3):c.1237G>A (p.A413T, p.(Ala413Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144515785C>T" "" "VUS" "" "0000656056" "0" "30" "8" "145741960" "145741960" "subst" "0.00359007" "02326" "RECQL4_000205" "g.145741960C>T" "" "" "" "RECQL4(NM_004260.3):c.543G>A (p.Q181=), RECQL4(NM_004260.4):c.543G>A (p.Q181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144516576C>T" "" "likely benign" "" "0000656057" "0" "30" "8" "145742577" "145742577" "subst" "4.68814E-6" "02325" "RECQL4_000238" "g.145742577G>A" "" "" "" "RECQL4(NM_004260.4):c.214-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144517193G>A" "" "likely benign" "" "0000660285" "0" "90" "8" "145740627" "145740627" "subst" "4.10494E-5" "01164" "RECQL4_000037" "g.145740627C>T" "" "" "" "" "ACMG grading: PVS1,PM2,PP5; BC at age 48y and 50y; Lindor et al. 2000. Am J Med Genet 90: 223; van Rij et al. 2017. Eur J Pediatr 176: 279" "Germline" "" "rs117642173" "0" "" "" "g.144515243C>T" "" "pathogenic" "ACMG" "0000670002" "3" "30" "8" "145737373" "145737373" "subst" "0.00482194" "03575" "RECQL4_000065" "g.145737373C>T" "1/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs36078464}\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs36078464" "0" "" "" "g.144511990C>T" "" "likely benign" "" "0000678334" "0" "30" "8" "145737713" "145737713" "subst" "8.17949E-6" "02326" "RECQL4_000239" "g.145737713G>A" "" "" "" "RECQL4(NM_004260.3):c.3056-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678335" "0" "30" "8" "145738298" "145738298" "subst" "6.53201E-5" "02326" "RECQL4_000240" "g.145738298A>G" "" "" "" "RECQL4(NM_004260.3):c.2687T>C (p.V896A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678336" "0" "50" "8" "145738761" "145738761" "subst" "0" "01943" "RECQL4_000241" "g.145738761A>G" "" "" "" "RECQL4(NM_004260.3):c.2303T>C (p.V768A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678337" "0" "90" "8" "145740367" "145740367" "del" "0.000238742" "02325" "RECQL4_000013" "g.145740367del" "" "" "" "RECQL4(NM_004260.3):c.1573delT (p.C525Afs*33), RECQL4(NM_004260.4):c.1573delT (p.C525Afs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000678338" "0" "50" "8" "145740455" "145740455" "subst" "9.5935E-5" "01943" "RECQL4_000242" "g.145740455G>A" "" "" "" "RECQL4(NM_004260.3):c.1485C>T (p.G495=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678339" "0" "30" "8" "145741413" "145741413" "subst" "0.00114171" "01804" "RECQL4_000120" "g.145741413C>T" "" "" "" "RECQL4(NM_004260.3):c.1090G>A (p.(Val364Met)), RECQL4(NM_004260.4):c.1090G>A (p.V364M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678340" "0" "30" "8" "145741797" "145741797" "subst" "0" "01804" "RECQL4_000243" "g.145741797C>T" "" "" "" "RECQL4(NM_004260.3):c.706G>A (p.(Gly236Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690209" "0" "30" "8" "145736910" "145736910" "subst" "0.000399974" "01943" "RECQL4_000056" "g.145736910G>A" "" "" "" "RECQL4(NM_004260.3):c.3531C>T (p.Y1177=), RECQL4(NM_004260.3):c.3532C>T (p.(Arg1178Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690210" "0" "50" "8" "145737770" "145737770" "subst" "0.000252592" "01943" "RECQL4_000244" "g.145737770C>T" "" "" "" "RECQL4(NM_004260.3):c.3055+5G>A, RECQL4(NM_004260.4):c.3055+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721871" "0" "30" "8" "145737701" "145737701" "subst" "0.00409099" "01804" "RECQL4_000071" "g.145737701C>T" "" "" "" "RECQL4(NM_004260.3):c.3062G>A (p.R1021Q, p.(Arg1021Gln)), RECQL4(NM_004260.4):c.3062G>A (p.R1021Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721872" "0" "30" "8" "145738160" "145738160" "subst" "2.46704E-5" "01804" "RECQL4_000245" "g.145738160G>A" "" "" "" "RECQL4(NM_004260.3):c.2756-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721873" "0" "90" "8" "145738439" "145738440" "del" "0" "01943" "RECQL4_000246" "g.145738439_145738440del" "" "" "" "RECQL4(NM_004260.3):c.2547_2548delGT (p.F850Pfs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721874" "0" "70" "8" "145738522" "145738522" "subst" "0.000101215" "01943" "RECQL4_000247" "g.145738522C>G" "" "" "" "RECQL4(NM_004260.3):c.2464-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721875" "0" "50" "8" "145738638" "145738638" "subst" "0.000317129" "01943" "RECQL4_000248" "g.145738638C>T" "" "" "" "RECQL4(NM_004260.3):c.2426G>A (p.G809E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721876" "0" "50" "8" "145738644" "145738644" "subst" "0.000157688" "01943" "RECQL4_000249" "g.145738644C>T" "" "" "" "RECQL4(NM_004260.3):c.2420G>A (p.R807H), RECQL4(NM_004260.4):c.2420G>A (p.(Arg807His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721877" "0" "50" "8" "145738950" "145738950" "subst" "5.39612E-5" "01943" "RECQL4_000250" "g.145738950C>T" "" "" "" "RECQL4(NM_004260.3):c.2200+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721878" "0" "30" "8" "145739085" "145739085" "subst" "4.01929E-5" "01943" "RECQL4_000251" "g.145739085C>T" "" "" "" "RECQL4(NM_004260.3):c.2070G>A (p.T690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721879" "0" "30" "8" "145739430" "145739430" "subst" "4.3681E-5" "01804" "RECQL4_000252" "g.145739430C>T" "" "" "" "RECQL4(NM_004260.3):c.1940G>A (p.(Arg647His)), RECQL4(NM_004260.4):c.1940G>A (p.R647H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721880" "0" "30" "8" "145739604" "145739604" "subst" "0.000521865" "01804" "RECQL4_000253" "g.145739604T>C" "" "" "" "RECQL4(NM_004260.3):c.1847A>G (p.(Asn616Ser)), RECQL4(NM_004260.4):c.1847A>G (p.N616S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721881" "0" "50" "8" "145739604" "145739604" "subst" "0.000521865" "02325" "RECQL4_000253" "g.145739604T>C" "" "" "" "RECQL4(NM_004260.3):c.1847A>G (p.(Asn616Ser)), RECQL4(NM_004260.4):c.1847A>G (p.N616S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721882" "0" "30" "8" "145740557" "145740557" "subst" "5.90842E-5" "01943" "RECQL4_000108" "g.145740557C>T" "" "" "" "RECQL4(NM_004260.3):c.1460G>A (p.R487H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721883" "0" "50" "8" "145741388" "145741388" "subst" "0.000392741" "01943" "RECQL4_000254" "g.145741388C>G" "" "" "" "RECQL4(NM_004260.3):c.1115G>C (p.R372T, p.(Arg372Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721884" "0" "30" "8" "145741612" "145741612" "subst" "0.000672339" "01943" "RECQL4_000255" "g.145741612G>A" "" "" "" "RECQL4(NM_004260.3):c.891C>T (p.D297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721885" "0" "30" "8" "145741938" "145741938" "subst" "0.000560382" "01943" "RECQL4_000204" "g.145741938C>T" "" "" "" "RECQL4(NM_004260.3):c.565G>A (p.G189S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803549" "0" "30" "8" "145737373" "145737373" "subst" "0.00482194" "02329" "RECQL4_000065" "g.145737373C>T" "" "" "" "RECQL4(NM_004260.3):c.3314G>A (p.G1105D, p.(Gly1105Asp)), RECQL4(NM_004260.4):c.3314G>A (p.G1105D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803550" "0" "30" "8" "145737821" "145737821" "subst" "0.00017694" "01943" "RECQL4_000256" "g.145737821C>T" "" "" "" "RECQL4(NM_004260.3):c.3009G>A (p.V1003=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803551" "0" "30" "8" "145737877" "145737877" "subst" "0.000588803" "02326" "RECQL4_000257" "g.145737877C>T" "" "" "" "RECQL4(NM_004260.3):c.2953G>A (p.V985M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803552" "0" "30" "8" "145737915" "145737915" "subst" "0" "01943" "RECQL4_000258" "g.145737915T>A" "" "" "" "RECQL4(NM_004260.3):c.2915A>T (p.Q972L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803553" "0" "30" "8" "145738162" "145738162" "subst" "0.000226114" "01943" "RECQL4_000076" "g.145738162C>A" "" "" "" "RECQL4(NM_004260.3):c.2756-8G>T, RECQL4(NM_004260.3):c.2757-8G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803554" "0" "30" "8" "145738406" "145738406" "subst" "1.67142E-5" "02326" "RECQL4_000259" "g.145738406G>A" "" "" "" "RECQL4(NM_004260.3):c.2579C>T (p.P860L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803555" "0" "90" "8" "145738439" "145738440" "del" "0" "02326" "RECQL4_000246" "g.145738439_145738440del" "" "" "" "RECQL4(NM_004260.3):c.2547_2548delGT (p.F850Pfs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803556" "0" "50" "8" "145738639" "145738639" "subst" "0.000125682" "01943" "RECQL4_000260" "g.145738639C>T" "" "" "" "RECQL4(NM_004260.3):c.2425G>A (p.G809R), RECQL4(NM_004260.4):c.2425G>A (p.G809R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803557" "0" "50" "8" "145739069" "145739069" "subst" "0.00107517" "01943" "RECQL4_000097" "g.145739069G>T" "" "" "" "RECQL4(NM_004260.3):c.2086C>A (p.R696S, p.(Arg696Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803558" "0" "30" "8" "145739347" "145739347" "subst" "0" "01943" "RECQL4_000261" "g.145739347G>A" "" "" "" "RECQL4(NM_004260.3):c.2023C>T (p.H675Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803559" "0" "50" "8" "145739845" "145739845" "subst" "7.76721E-5" "01943" "RECQL4_000262" "g.145739845C>T" "" "" "" "RECQL4(NM_004260.3):c.1685G>A (p.R562Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803560" "0" "50" "8" "145740372" "145740372" "subst" "0.000243991" "01943" "RECQL4_000036" "g.145740372C>G" "" "" "" "RECQL4(NM_004260.3):c.1568G>C (p.S523T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803561" "0" "30" "8" "145741388" "145741388" "subst" "0.000392741" "01804" "RECQL4_000254" "g.145741388C>G" "" "" "" "RECQL4(NM_004260.3):c.1115G>C (p.R372T, p.(Arg372Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803562" "0" "30" "8" "145741888" "145741888" "subst" "0.00186418" "02326" "RECQL4_000126" "g.145741888G>C" "" "" "" "RECQL4(NM_004260.3):c.615C>G (p.P205=), RECQL4(NM_004260.4):c.615C>G (p.P205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803563" "0" "30" "8" "145742058" "145742058" "subst" "3.51519E-5" "01943" "RECQL4_000263" "g.145742058G>A" "" "" "" "RECQL4(NM_004260.3):c.445C>T (p.P149S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803564" "0" "50" "8" "145743140" "145743140" "subst" "0" "01943" "RECQL4_000264" "g.145743140C>T" "" "" "" "RECQL4(NM_004260.3):c.29G>A (p.R10Q), RECQL4(NM_004260.4):c.29G>A (p.(Arg10Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000814441" "0" "90" "8" "145738492" "145738493" "del" "7.80861E-5" "00000" "RECQL4_000003" "g.145738492_145738493del" "" "{PMID:Lenassi 2020:31848469}" "" "RECQL4 c.2492_2493del p.(His831ArgfsTer52) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.144513109_144513110del" "" "pathogenic" "ACMG" "0000833387" "1" "50" "8" "145737131" "145737131" "subst" "0.00293518" "00006" "RECQL4_000061" "g.145737131C>G" "" "{PMID:Martin 2017:29220673}" "" "" "" "Germline" "" "" "0" "" "" "g.144511748C>G" "" "VUS" "" "0000833388" "2" "50" "8" "145740707" "145740707" "subst" "0.00241121" "00006" "RECQL4_000111" "g.145740707C>T" "" "{PMID:Martin 2017:29220673}" "" "" "" "Germline" "" "" "0" "" "" "g.144515323C>T" "" "VUS" "" "0000845115" "0" "50" "8" "145741443" "145741443" "subst" "8.14564E-5" "00006" "RECQL4_000265" "g.145741443C>T" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.144516059C>T" "" "VUS" "" "0000851855" "0" "30" "8" "145737788" "145737788" "subst" "0.000111738" "02326" "RECQL4_000267" "g.145737788G>A" "" "" "" "RECQL4(NM_004260.3):c.3042C>T (p.H1014=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851856" "0" "50" "8" "145737936" "145737936" "subst" "3.26603E-5" "01943" "RECQL4_000268" "g.145737936G>A" "" "" "" "RECQL4(NM_004260.3):c.2894C>T (p.P965L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851857" "0" "30" "8" "145738400" "145738400" "subst" "6.75706E-5" "01943" "RECQL4_000167" "g.145738400G>A" "" "" "" "RECQL4(NM_004260.3):c.2585C>T (p.S862L), RECQL4(NM_004260.4):c.2585C>T (p.(Ser862Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851858" "0" "50" "8" "145738725" "145738725" "subst" "2.5992E-5" "01943" "RECQL4_000272" "g.145738725C>T" "" "" "" "RECQL4(NM_004260.3):c.2339G>A (p.R780Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851859" "0" "50" "8" "145738752" "145738752" "subst" "9.05228E-5" "01804" "RECQL4_000273" "g.145738752G>A" "" "" "" "RECQL4(NM_004260.3):c.2312C>T (p.(Thr771Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851860" "0" "30" "8" "145739019" "145739019" "subst" "0" "01943" "RECQL4_000275" "g.145739019G>A" "" "" "" "RECQL4(NM_004260.3):c.2136C>T (p.D712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851861" "0" "50" "8" "145739338" "145739338" "subst" "0" "01943" "RECQL4_000276" "g.145739338C>T" "" "" "" "RECQL4(NM_004260.3):c.2032G>A (p.V678M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851862" "0" "30" "8" "145739385" "145739385" "subst" "0" "01804" "RECQL4_000277" "g.145739385G>A" "" "" "" "RECQL4(NM_004260.3):c.1985C>T (p.(Pro662Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851863" "0" "50" "8" "145739598" "145739598" "subst" "6.98996E-5" "01943" "RECQL4_000186" "g.145739598C>T" "" "" "" "RECQL4(NM_004260.3):c.1853G>A (p.R618Q), RECQL4(NM_004260.4):c.1853G>A (p.(Arg618Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851864" "0" "30" "8" "145742794" "145742794" "del" "0" "01943" "RECQL4_000208" "g.145742794del" "" "" "" "RECQL4(NM_004260.3):c.213+6delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851865" "0" "30" "8" "145743027" "145743027" "subst" "0" "01943" "RECQL4_000279" "g.145743027G>A" "" "" "" "RECQL4(NM_004260.3):c.85-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851866" "0" "30" "8" "145743149" "145743149" "subst" "0.000111185" "02326" "RECQL4_000210" "g.145743149A>C" "" "" "" "RECQL4(NM_004260.3):c.20T>G (p.(Val7Gly), p.V7G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861139" "0" "30" "8" "145736817" "145736817" "subst" "0.000101813" "01943" "RECQL4_000266" "g.145736817G>A" "" "" "" "RECQL4(NM_004260.3):c.3624C>T (p.R1208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861140" "0" "30" "8" "145737350" "145737350" "subst" "0.000816203" "01943" "RECQL4_000154" "g.145737350C>G" "" "" "" "RECQL4(NM_004260.3):c.3337G>C (p.G1113R), RECQL4(NM_004260.3):c.3338G>C (p.(Gly1113Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861141" "0" "50" "8" "145737820" "145737820" "subst" "0.000304956" "01943" "RECQL4_000161" "g.145737820G>A" "" "" "" "RECQL4(NM_004260.3):c.3010C>T (p.R1004W), RECQL4(NM_004260.3):c.3011C>T (p.(Arg1004Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861142" "0" "50" "8" "145738442" "145738442" "subst" "0.000119508" "01943" "RECQL4_000269" "g.145738442C>T" "" "" "" "RECQL4(NM_004260.3):c.2543G>A (p.R848H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861143" "0" "50" "8" "145738445" "145738445" "subst" "1.02196E-5" "01804" "RECQL4_000270" "g.145738445T>C" "" "" "" "RECQL4(NM_004260.3):c.2540A>G (p.(Gln847Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861144" "0" "30" "8" "145738482" "145738482" "subst" "0.000127349" "01943" "RECQL4_000271" "g.145738482C>T" "" "" "" "RECQL4(NM_004260.3):c.2503G>A (p.D835N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861145" "0" "30" "8" "145738970" "145738970" "subst" "0" "01804" "RECQL4_000274" "g.145738970C>G" "" "" "" "RECQL4(NM_004260.3):c.2185G>C (p.(Val729Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861146" "0" "50" "8" "145740323" "145740323" "subst" "0" "01804" "RECQL4_000278" "g.145740323G>C" "" "" "" "RECQL4(NM_004260.3):c.1617C>G (p.(Asp539Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000873699" "0" "70" "8" "145742059" "145742059" "dup" "0" "00103" "RECQL4_000280" "g.145742059dup" "" "" "" "447dupC" "" "Germline" "" "" "0" "" "" "g.144516675dup" "" "likely pathogenic" "ACMG" "0000873703" "0" "90" "8" "145738796" "145738796" "subst" "0.000117976" "00103" "RECQL4_000002" "g.145738796G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.144513412G>A" "" "pathogenic" "ACMG" "0000873712" "0" "90" "8" "145738439" "145738440" "del" "0" "00103" "RECQL4_000246" "g.145738439_145738440del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.144513056_144513057del" "" "pathogenic" "ACMG" "0000873713" "0" "70" "8" "145737547" "145737547" "del" "0" "00103" "RECQL4_000281" "g.145737547del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.144512164del" "" "likely pathogenic" "ACMG" "0000876917" "0" "70" "8" "145741454" "145741455" "del" "7.73735E-5" "00103" "RECQL4_000140" "g.145741454_145741455del" "" "" "" "1048_1049delAG" "" "Germline" "" "" "0" "" "" "g.144516070_144516071del" "" "likely pathogenic" "" "0000876918" "0" "70" "8" "145742468" "145742468" "del" "0" "00103" "RECQL4_000282" "g.145742468del" "" "" "" "" "" "Germline" "" "" "0" "" "" "NC_000008.11:g.144517084del" "" "likely pathogenic" "ACMG" "0000876919" "0" "90" "8" "145738994" "145738994" "subst" "3.45191E-5" "00103" "RECQL4_000181" "g.145738994G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.144513610G>A" "" "pathogenic" "ACMG" "0000888234" "0" "30" "8" "145737123" "145737123" "subst" "0.00137746" "02326" "RECQL4_000060" "g.145737123G>A" "" "" "" "RECQL4(NM_004260.3):c.3443C>T (p.S1148F, p.(=)), RECQL4(NM_004260.4):c.3443C>T (p.S1148F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888235" "0" "30" "8" "145737350" "145737350" "subst" "0.000816203" "02326" "RECQL4_000154" "g.145737350C>G" "" "" "" "RECQL4(NM_004260.3):c.3337G>C (p.G1113R), RECQL4(NM_004260.3):c.3338G>C (p.(Gly1113Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888236" "0" "30" "8" "145737630" "145737630" "subst" "0.00106893" "02326" "RECQL4_000157" "g.145737630C>T" "" "" "" "RECQL4(NM_004260.3):c.3133G>A (p.A1045T), RECQL4(NM_004260.3):c.3134G>A (p.(Ala1045Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888237" "0" "10" "8" "145738538" "145738538" "subst" "0.00255099" "02326" "RECQL4_000283" "g.145738538A>G" "" "" "" "RECQL4(NM_004260.3):c.2464-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888238" "0" "30" "8" "145738649" "145738649" "subst" "0.00151825" "02326" "RECQL4_000284" "g.145738649G>A" "" "" "" "RECQL4(NM_004260.3):c.2415C>T (p.A805=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888239" "0" "30" "8" "145738804" "145738804" "subst" "0.000192269" "01804" "RECQL4_000285" "g.145738804C>T" "" "" "" "RECQL4(NM_004260.3):c.2261G>A (p.(Arg754Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888240" "0" "30" "8" "145738827" "145738827" "subst" "0.00342363" "02326" "RECQL4_000094" "g.145738827C>T" "" "" "" "RECQL4(NM_004260.3):c.2238G>A (p.A746=), RECQL4(NM_004260.4):c.2238G>A (p.A746=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888241" "0" "50" "8" "145739073" "145739073" "subst" "7.95429E-5" "02327" "RECQL4_000182" "g.145739073G>A" "" "" "" "RECQL4(NM_004260.3):c.2082C>T (p.G694=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888242" "0" "90" "8" "145739833" "145739833" "subst" "0.000118705" "02327" "RECQL4_000035" "g.145739833A>G" "" "" "" "RECQL4(NM_004260.3):c.1697T>C (p.L566P), RECQL4(NM_004260.4):c.1697T>C (p.L566P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888243" "0" "70" "8" "145739833" "145739833" "subst" "0.000118705" "02326" "RECQL4_000035" "g.145739833A>G" "" "" "" "RECQL4(NM_004260.3):c.1697T>C (p.L566P), RECQL4(NM_004260.4):c.1697T>C (p.L566P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000888244" "0" "30" "8" "145740375" "145740375" "subst" "0.00647082" "02326" "RECQL4_000107" "g.145740375C>T" "" "" "" "RECQL4(NM_004260.3):c.1565G>A (p.(Arg522His), p.R522H), RECQL4(NM_004260.4):c.1565G>A (p.R522H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888245" "0" "10" "8" "145741870" "145741870" "subst" "0.0003594" "02329" "RECQL4_000286" "g.145741870A>G" "" "" "" "RECQL4(NM_004260.4):c.633T>C (p.D211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888246" "0" "30" "8" "145741983" "145741983" "subst" "0.000188061" "01804" "RECQL4_000287" "g.145741983G>A" "" "" "" "RECQL4(NM_004260.3):c.520C>T (p.(His174Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888247" "0" "10" "8" "145742488" "145742488" "subst" "0.00259364" "02326" "RECQL4_000288" "g.145742488G>A" "" "" "" "RECQL4(NM_004260.3):c.300C>T (p.G100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912911" "0" "30" "8" "145737131" "145737131" "subst" "0.00293518" "02326" "RECQL4_000061" "g.145737131C>G" "" "" "" "RECQL4(NM_004260.3):c.3435G>C (p.Q1145H, p.(Gln1145His)), RECQL4(NM_004260.4):c.3435G>C (p.Q1145H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912912" "0" "30" "8" "145737619" "145737619" "subst" "8.16033E-6" "02326" "RECQL4_000289" "g.145737619C>T" "" "" "" "RECQL4(NM_004260.3):c.3144G>A (p.K1048=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912913" "0" "50" "8" "145737650" "145737650" "subst" "4.89428E-5" "02325" "RECQL4_000290" "g.145737650C>T" "" "" "" "RECQL4(NM_004260.4):c.3113G>A (p.R1038H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912914" "0" "30" "8" "145738227" "145738227" "subst" "0" "02325" "RECQL4_000291" "g.145738227C>T" "" "" "" "RECQL4(NM_004260.4):c.2755+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912915" "0" "30" "8" "145738261" "145738261" "subst" "0.000218802" "02326" "RECQL4_000232" "g.145738261A>G" "" "" "" "RECQL4(NM_004260.3):c.2724T>C (p.L908=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912916" "0" "10" "8" "145739506" "145739506" "subst" "0.00207802" "02326" "RECQL4_000292" "g.145739506G>T" "" "" "" "RECQL4(NM_004260.3):c.1879-15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912917" "0" "70" "8" "145739833" "145739833" "subst" "0.000118705" "02325" "RECQL4_000035" "g.145739833A>G" "" "" "" "RECQL4(NM_004260.3):c.1697T>C (p.L566P), RECQL4(NM_004260.4):c.1697T>C (p.L566P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912918" "0" "90" "8" "145740458" "145740458" "subst" "0" "02327" "RECQL4_000293" "g.145740458T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912919" "0" "90" "8" "145741454" "145741455" "del" "7.73735E-5" "02325" "RECQL4_000140" "g.145741454_145741455del" "" "" "" "RECQL4(NM_004260.3):c.1048_1049del (p.(Arg350Glyfs*21)), RECQL4(NM_004260.4):c.1048_1049delAG (p.R350Gfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000917054" "0" "90" "8" "145738439" "145738440" "del" "0" "01082" "RECQL4_000246" "g.145738439_145738440del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.144513056_144513057del" "406969" "pathogenic" "ACMG" "0000920329" "11" "90" "8" "145738796" "145738796" "subst" "0.000117976" "00006" "RECQL4_000002" "g.145738796G>A" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "yes" "" "0" "" "" "g.144513412G>A" "" "pathogenic" "ACMG" "0000920368" "21" "50" "8" "145737710" "145737710" "subst" "0" "00006" "RECQL4_000294" "g.145737710G>T" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "yes" "" "0" "" "" "g.144512327G>T" "" "VUS" "ACMG" "0000924844" "0" "30" "8" "145736056" "145736056" "subst" "0.00327274" "01804" "RECQL4_000295" "g.145736056C>T" "" "" "" "MFSD3(NM_138431.1):c.906C>T (p.(Phe302=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924845" "0" "30" "8" "145737962" "145737962" "subst" "7.7532E-5" "02326" "RECQL4_000296" "g.145737962G>A" "" "" "" "RECQL4(NM_004260.3):c.2886-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924846" "0" "30" "8" "145738425" "145738430" "dup" "0" "02326" "RECQL4_000030" "g.145738425_145738430dup" "" "" "" "RECQL4(NM_004260.3):c.2569_2574dupTGCACC (p.C857_T858dup), RECQL4(NM_004260.3):c.2575_2576insTGCACC (p.(Cys857_Thr858dup)), RECQL4(NM_004260.4):c.2..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924847" "0" "50" "8" "145739470" "145739470" "subst" "0" "01804" "RECQL4_000297" "g.145739470C>T" "" "" "" "RECQL4(NM_004260.3):c.1900G>A (p.(Val634Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924848" "0" "30" "8" "145740619" "145740619" "subst" "0.00122331" "02326" "RECQL4_000224" "g.145740619C>T" "" "" "" "RECQL4(NM_004260.3):c.1398G>A (p.P466=), RECQL4(NM_004260.4):c.1398G>A (p.P466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924849" "0" "30" "8" "145741783" "145741783" "subst" "0" "02326" "RECQL4_000124" "g.145741783T>G" "" "" "" "RECQL4(NM_004260.3):c.720A>C (p.S240=), RECQL4(NM_004260.4):c.720A>C (p.S240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924850" "0" "30" "8" "145741787" "145741787" "subst" "0.00101954" "02326" "RECQL4_000125" "g.145741787G>A" "" "" "" "RECQL4(NM_004260.3):c.716C>T (p.A239V), RECQL4(NM_004260.4):c.716C>T (p.A239V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929426" "0" "50" "8" "145738639" "145738639" "subst" "0.000125682" "02325" "RECQL4_000260" "g.145738639C>T" "" "" "" "RECQL4(NM_004260.3):c.2425G>A (p.G809R), RECQL4(NM_004260.4):c.2425G>A (p.G809R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929427" "0" "50" "8" "145739069" "145739069" "subst" "5.93652E-5" "01804" "RECQL4_000096" "g.145739069G>A" "" "" "" "RECQL4(NM_004260.3):c.2086C>T (p.R696C, p.(Arg696Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929428" "0" "10" "8" "145742850" "145742850" "subst" "0.00364869" "02326" "RECQL4_000045" "g.145742850T>C" "" "" "" "RECQL4(NM_004260.3):c.161A>G (p.Q54R, p.(Gln54Arg)), RECQL4(NM_004260.4):c.161A>G (p.Q54R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949048" "0" "30" "8" "145738441" "145738441" "subst" "0.0011331" "02329" "RECQL4_000082" "g.145738441G>A" "" "" "" "RECQL4(NM_004260.3):c.2544C>T (p.R848=), RECQL4(NM_004260.4):c.2544C>T (p.(Arg848=), p.R848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949049" "0" "50" "8" "145740372" "145740372" "subst" "0.000243991" "02326" "RECQL4_000036" "g.145740372C>G" "" "" "" "RECQL4(NM_004260.3):c.1568G>C (p.S523T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949050" "0" "30" "8" "145741960" "145741960" "subst" "0.00359007" "02329" "RECQL4_000205" "g.145741960C>T" "" "" "" "RECQL4(NM_004260.3):c.543G>A (p.Q181=), RECQL4(NM_004260.4):c.543G>A (p.Q181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952115" "0" "90" "8" "145743135" "145743135" "subst" "0" "04599" "RECQL4_000298" "g.145743135G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.144517751G>A" "" "pathogenic" "ACMG" "0000964928" "0" "50" "8" "145739027" "145739027" "subst" "0" "02325" "RECQL4_000299" "g.145739027G>A" "" "" "" "RECQL4(NM_004260.4):c.2128C>T (p.R710C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964929" "0" "50" "8" "145739430" "145739430" "subst" "4.3681E-5" "02325" "RECQL4_000252" "g.145739430C>T" "" "" "" "RECQL4(NM_004260.3):c.1940G>A (p.(Arg647His)), RECQL4(NM_004260.4):c.1940G>A (p.R647H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978134" "0" "30" "8" "145736521" "145736521" "subst" "0.00170085" "01804" "RECQL4_000300" "g.145736521G>A" "" "" "" "MFSD3(NM_138431.3):c.1213G>A (p.(Asp405Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978135" "0" "50" "8" "145738245" "145738245" "subst" "2.19294E-5" "01804" "RECQL4_000301" "g.145738245C>T" "" "" "" "RECQL4(NM_004260.4):c.2740G>A (p.(Asp914Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978136" "0" "50" "8" "145738755" "145738757" "dup" "0" "01804" "RECQL4_000302" "g.145738755_145738757dup" "" "" "" "RECQL4(NM_004260.4):c.2307_2309dup (p.(Ala770dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978137" "0" "30" "8" "145739587" "145739587" "subst" "8.23242E-5" "02329" "RECQL4_000303" "g.145739587G>A" "" "" "" "RECQL4(NM_004260.4):c.1864C>T (p.L622=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978138" "0" "50" "8" "145739716" "145739716" "subst" "0" "01804" "RECQL4_000304" "g.145739716G>T" "" "" "" "RECQL4(NM_004260.4):c.1735C>A (p.(Leu579Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978139" "0" "30" "8" "145740622" "145740622" "subst" "0.00549811" "01804" "RECQL4_000110" "g.145740622C>T" "" "" "" "RECQL4(NM_004260.4):c.1395G>A (p.(Thr465=), p.T465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978140" "0" "30" "8" "145741217" "145741217" "subst" "0" "01804" "RECQL4_000305" "g.145741217C>T" "" "" "" "RECQL4(NM_004260.4):c.1189G>A (p.(Val397Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997062" "0" "30" "8" "145732120" "145732120" "subst" "0" "01804" "RECQL4_000306" "g.145732120G>T" "" "" "" "GPT(NM_005309.2):c.1294G>T (p.(Gly432Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997063" "0" "50" "8" "145732307" "145732307" "subst" "0" "01804" "RECQL4_000307" "g.145732307C>T" "" "" "" "GPT(NM_005309.2):c.1415C>T (p.(Pro472Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997064" "0" "30" "8" "145737373" "145737373" "subst" "0.00482194" "02327" "RECQL4_000065" "g.145737373C>T" "" "" "" "RECQL4(NM_004260.3):c.3314G>A (p.G1105D, p.(Gly1105Asp)), RECQL4(NM_004260.4):c.3314G>A (p.G1105D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997065" "0" "50" "8" "145738769" "145738769" "subst" "0.00892857" "01804" "RECQL4_000308" "g.145738769G>A" "" "" "" "RECQL4(NM_004260.3):c.2295+1C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997066" "0" "50" "8" "145738769" "145738769" "subst" "0.00297619" "01804" "RECQL4_000309" "g.145738769G>T" "" "" "" "RECQL4(NM_004260.3):c.2295+1C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997067" "0" "30" "8" "145740619" "145740619" "subst" "0.00122331" "02329" "RECQL4_000224" "g.145740619C>T" "" "" "" "RECQL4(NM_004260.3):c.1398G>A (p.P466=), RECQL4(NM_004260.4):c.1398G>A (p.P466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997068" "0" "30" "8" "145741153" "145741153" "subst" "3.6843E-5" "01804" "RECQL4_000310" "g.145741153C>T" "" "" "" "RECQL4(NM_004260.3):c.1253G>A (p.(Arg418Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014426" "0" "50" "8" "145737271" "145737271" "subst" "0" "02329" "RECQL4_000311" "g.145737271C>G" "" "" "" "RECQL4(NM_004260.4):c.3393+23G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014427" "0" "90" "8" "145737702" "145737702" "subst" "2.86191E-5" "02327" "RECQL4_000312" "g.145737702G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014428" "0" "30" "8" "145739672" "145739672" "subst" "2.47709E-5" "02329" "RECQL4_000313" "g.145739672G>A" "" "" "" "RECQL4(NM_004260.4):c.1779C>T (p.A593=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014429" "0" "30" "8" "145741426" "145741426" "subst" "0" "02329" "RECQL4_000314" "g.145741426C>T" "" "" "" "RECQL4(NM_004260.4):c.1077G>A (p.K359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025494" "0" "30" "8" "145737123" "145737123" "subst" "0.00137746" "02329" "RECQL4_000060" "g.145737123G>A" "" "" "" "RECQL4(NM_004260.3):c.3443C>T (p.S1148F, p.(=)), RECQL4(NM_004260.4):c.3443C>T (p.S1148F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025495" "0" "30" "8" "145737620" "145737620" "subst" "0.000424348" "02329" "RECQL4_000156" "g.145737620T>C" "" "" "" "RECQL4(NM_004260.3):c.3143A>G (p.K1048R), RECQL4(NM_004260.4):c.3143A>G (p.K1048R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025496" "0" "50" "8" "145737770" "145737770" "subst" "0.000252592" "02329" "RECQL4_000244" "g.145737770C>T" "" "" "" "RECQL4(NM_004260.3):c.3055+5G>A, RECQL4(NM_004260.4):c.3055+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025497" "0" "30" "8" "145738093" "145738093" "subst" "0.00192625" "02327" "RECQL4_000075" "g.145738093C>T" "" "" "" "RECQL4(NM_004260.3):c.2817G>A (p.A939=), RECQL4(NM_004260.4):c.2817G>A (p.A939=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025498" "0" "30" "8" "145738177" "145738177" "subst" "4.98264E-5" "02329" "RECQL4_000315" "g.145738177C>T" "" "" "" "RECQL4(NM_004260.4):c.2756-23G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025499" "0" "30" "8" "145738425" "145738430" "dup" "0" "02329" "RECQL4_000030" "g.145738425_145738430dup" "" "" "" "RECQL4(NM_004260.3):c.2569_2574dupTGCACC (p.C857_T858dup), RECQL4(NM_004260.3):c.2575_2576insTGCACC (p.(Cys857_Thr858dup)), RECQL4(NM_004260.4):c.2..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025500" "0" "30" "8" "145738593" "145738593" "del" "0" "02329" "RECQL4_000171" "g.145738593del" "" "" "" "RECQL4(NM_004260.3):c.2463+20delC, RECQL4(NM_004260.4):c.2463+20delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025501" "0" "30" "8" "145738926" "145738926" "subst" "9.07741E-5" "02329" "RECQL4_000316" "g.145738926C>G" "" "" "" "RECQL4(NM_004260.4):c.2200+29G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025502" "0" "30" "8" "145739404" "145739404" "subst" "5.75308E-5" "02329" "RECQL4_000184" "g.145739404G>A" "" "" "" "RECQL4(NM_004260.3):c.1966C>T (p.L656=), RECQL4(NM_004260.4):c.1966C>T (p.L656=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025503" "0" "10" "8" "145740510" "145740510" "subst" "0.00696578" "02329" "RECQL4_000317" "g.145740510C>G" "" "" "" "RECQL4(NM_004260.4):c.1483+24G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001036859" "0" "50" "8" "145731920" "145731920" "subst" "0" "02325" "RECQL4_000318" "g.145731920G>A" "" "" "" "GPT(NM_005309.3):c.1168G>A (p.A390T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036860" "0" "50" "8" "145736832" "145736834" "del" "0" "01804" "RECQL4_000319" "g.145736832_145736834del" "" "" "" "RECQL4(NM_004260.4):c.3609_3611del (p.(Leu1204del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036861" "0" "50" "8" "145736909" "145736909" "subst" "8.97629E-5" "01804" "RECQL4_000320" "g.145736909C>T" "" "" "" "RECQL4(NM_004260.4):c.3532G>A (p.(Gly1178Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036862" "0" "50" "8" "145737179" "145737179" "subst" "0" "01804" "RECQL4_000321" "g.145737179G>A" "" "" "" "RECQL4(NM_004260.4):c.3394-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036863" "0" "50" "8" "145737560" "145737560" "subst" "8.26617E-6" "01804" "RECQL4_000322" "g.145737560G>T" "" "" "" "RECQL4(NM_004260.4):c.3203C>A (p.(Ala1068Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036864" "0" "50" "8" "145737644" "145737644" "subst" "5.30253E-5" "01804" "RECQL4_000323" "g.145737644G>A" "" "" "" "RECQL4(NM_004260.4):c.3119C>T (p.(Pro1040Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036865" "0" "30" "8" "145737705" "145737705" "subst" "0.00228092" "01804" "RECQL4_000159" "g.145737705C>T" "" "" "" "RECQL4(NM_004260.3):c.3058G>A (p.V1020M), RECQL4(NM_004260.4):c.3058G>A (p.(Val1020Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036866" "0" "50" "8" "145738286" "145738286" "subst" "0" "01804" "RECQL4_000324" "g.145738286T>C" "" "" "" "RECQL4(NM_004260.4):c.2699A>G (p.(His900Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036867" "0" "30" "8" "145738384" "145738384" "subst" "0.000838841" "01804" "RECQL4_000325" "g.145738384G>C" "" "" "" "RECQL4(NM_004260.4):c.2601C>G (p.(Ala867=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036868" "0" "30" "8" "145738400" "145738400" "subst" "6.75706E-5" "01804" "RECQL4_000167" "g.145738400G>A" "" "" "" "RECQL4(NM_004260.3):c.2585C>T (p.S862L), RECQL4(NM_004260.4):c.2585C>T (p.(Ser862Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036869" "0" "90" "8" "145738492" "145738493" "del" "7.80861E-5" "01804" "RECQL4_000003" "g.145738492_145738493del" "" "" "" "RECQL4(NM_004260.3):c.2492_2493delAT (p.H831Rfs*52), RECQL4(NM_004260.4):c.2492_2493del (p.(His831Argfs*52))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001036870" "0" "50" "8" "145738644" "145738644" "subst" "0.000157688" "01804" "RECQL4_000249" "g.145738644C>T" "" "" "" "RECQL4(NM_004260.3):c.2420G>A (p.R807H), RECQL4(NM_004260.4):c.2420G>A (p.(Arg807His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036871" "0" "50" "8" "145738799" "145738799" "subst" "4.19171E-6" "01804" "RECQL4_000326" "g.145738799C>T" "" "" "" "RECQL4(NM_004260.4):c.2266G>A (p.(Val756Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036872" "0" "50" "8" "145738808" "145738808" "subst" "0" "01804" "RECQL4_000093" "g.145738808G>A" "" "" "" "RECQL4(NM_004260.4):c.2257C>T (p.(Arg753Trp), p.R753W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036873" "0" "50" "8" "145738981" "145738981" "subst" "2.10346E-5" "01804" "RECQL4_000327" "g.145738981T>A" "" "" "" "RECQL4(NM_004260.4):c.2174A>T (p.(His725Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036874" "0" "50" "8" "145739006" "145739006" "subst" "1.34707E-5" "01804" "RECQL4_000328" "g.145739006C>T" "" "" "" "RECQL4(NM_004260.4):c.2149G>A (p.(Ala717Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036875" "0" "50" "8" "145739430" "145739430" "subst" "6.00614E-5" "01804" "RECQL4_000329" "g.145739430C>A" "" "" "" "RECQL4(NM_004260.4):c.1940G>T (p.(Arg647Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036876" "0" "50" "8" "145739451" "145739453" "del" "0" "01804" "RECQL4_000330" "g.145739451_145739453del" "" "" "" "RECQL4(NM_004260.4):c.1918_1920del (p.(Leu640del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036877" "0" "50" "8" "145739484" "145739484" "subst" "3.13513E-5" "01804" "RECQL4_000331" "g.145739484C>T" "" "" "" "RECQL4(NM_004260.4):c.1886G>A (p.(Arg629Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036878" "0" "50" "8" "145739598" "145739598" "subst" "6.98996E-5" "01804" "RECQL4_000186" "g.145739598C>T" "" "" "" "RECQL4(NM_004260.3):c.1853G>A (p.R618Q), RECQL4(NM_004260.4):c.1853G>A (p.(Arg618Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036879" "0" "50" "8" "145739731" "145739731" "subst" "8.7925E-5" "01804" "RECQL4_000189" "g.145739731C>T" "" "" "" "RECQL4(NM_004260.4):c.1720G>A (p.(Val574Ile), p.V574I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036880" "0" "50" "8" "145740393" "145740393" "subst" "0" "01804" "RECQL4_000332" "g.145740393G>A" "" "" "" "RECQL4(NM_004260.4):c.1547C>T (p.(Ala516Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036881" "0" "50" "8" "145740421" "145740421" "subst" "0" "01804" "RECQL4_000333" "g.145740421C>T" "" "" "" "RECQL4(NM_004260.4):c.1519G>A (p.(Gly507Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036882" "0" "30" "8" "145740702" "145740702" "subst" "4.08958E-6" "01804" "RECQL4_000334" "g.145740702C>T" "" "" "" "RECQL4(NM_004260.4):c.1390+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036883" "0" "50" "8" "145741191" "145741191" "subst" "0" "01804" "RECQL4_000335" "g.145741191C>T" "" "" "" "RECQL4(NM_004260.4):c.1215G>A (p.(Leu405=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036884" "0" "50" "8" "145741247" "145741247" "subst" "0.00021241" "01804" "RECQL4_000336" "g.145741247C>T" "" "" "" "RECQL4(NM_004260.4):c.1159G>A (p.(Gly387Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036885" "0" "30" "8" "145741431" "145741431" "subst" "3.66578E-5" "01804" "RECQL4_000337" "g.145741431T>C" "" "" "" "RECQL4(NM_004260.4):c.1072A>G (p.(Met358Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036886" "0" "50" "8" "145741604" "145741604" "subst" "0" "01804" "RECQL4_000338" "g.145741604C>A" "" "" "" "RECQL4(NM_004260.4):c.899G>T (p.(Gly300Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036887" "0" "50" "8" "145741905" "145741905" "subst" "0" "01804" "RECQL4_000339" "g.145741905C>T" "" "" "" "RECQL4(NM_004260.4):c.598G>A (p.(Asp200Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036888" "0" "50" "8" "145743140" "145743140" "subst" "0" "01804" "RECQL4_000264" "g.145743140C>T" "" "" "" "RECQL4(NM_004260.3):c.29G>A (p.R10Q), RECQL4(NM_004260.4):c.29G>A (p.(Arg10Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RECQL4 ## Count = 479 "{{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}}" "0000016571" "00001769" "95" "1650" "0" "1656" "0" "c.1650_1656del" "r.(?)" "p.(Ala551Tyrfs*5)" "10" "0000016572" "00001769" "95" "1650" "0" "1656" "0" "c.1650_1656del" "r.(?)" "p.(Ala551Tyrfs*5)" "10" "0000016573" "00001769" "95" "2059" "-1" "2059" "-1" "c.2059-1G>T" "r.2059_2200del" "p.Ala687Valfs*" "12i" "0000016574" "00001769" "95" "2269" "0" "2269" "0" "c.2269C>T" "r.2269c>u" "p.Gln757*" "14" "0000016575" "00001769" "95" "2269" "0" "2269" "0" "c.2269C>T" "r.2269c>u" "p.Gln757*" "14" "0000016576" "00001769" "95" "2492" "0" "2493" "0" "c.2492_2493del" "r.(?)" "p.(His831Argfs*52)" "15" "0000016799" "00001769" "77" "806" "0" "806" "0" "c.806G>A" "r.(806g>a)" "p.(Trp269*)" "05" "0000016800" "00001769" "99" "1390" "2" "1390" "2" "c.1390+2del" "r.1259_1390del" "p.Ala420_Ala463del" "07i" "0000016801" "00001769" "77" "1397" "0" "1397" "0" "c.1397C>T" "r.(1397c>u)" "p.(Pro466Leu)" "08" "0000016802" "00001769" "77" "1573" "0" "1573" "0" "c.1573del" "r.(?)" "p.(Cys525Alafs*33)" "09" "0000016803" "00001769" "77" "1885" "0" "1888" "0" "c.1885_1888del" "r.(1885_1888del)" "p.(Arg629Serfs*60)" "12" "0000016804" "00001769" "77" "1887" "0" "1890" "0" "c.1887_1890del" "r.(1887_1890del)" "p.(Glu630Alafs*59)" "12" "0000016805" "00001769" "77" "1910" "0" "1910" "0" "c.1910T>C" "r.(1910u>c)" "p.(Phe637Ser)" "12" "0000016806" "00001769" "77" "2059" "-1" "2059" "-1" "c.2059-1G>A" "r.spl?" "p.?" "12i" "0000016807" "00001769" "77" "2091" "0" "2091" "0" "c.2091T>G" "r.(2091u>g)" "p.(Phe697Leu)" "13" "0000016808" "00001769" "77" "2269" "0" "2269" "0" "c.2269C>T" "r.(2269c>u)" "p.(Gln757*)" "14" "0000016809" "00001769" "77" "2476" "0" "2476" "0" "c.2476C>T" "r.(2476c>u)" "p.(Arg826*)" "15" "0000016810" "00001769" "77" "3072" "0" "3072" "0" "c.3072del" "r.(?)" "p.(Val1026Cysfs*18)" "18" "0000016811" "00001769" "77" "3214" "0" "3214" "0" "c.3214A>T" "r.(3214a>u)" "p.(Arg1072*)" "18" "0000016812" "00001769" "77" "3271" "0" "3271" "0" "c.3271C>T" "r.(3271c>u)" "p.(Gln1091*)" "19" "0000016813" "00001769" "77" "3599" "0" "3600" "0" "c.3599_3600del" "r.(?)" "p.(Thr1200Argfs*26)" "21" "0000022999" "00001769" "90" "2272" "0" "2272" "0" "c.2272C>T" "r.[=, 2266_2463del]" "p.[Arg758*, Val756_Gln821del]" "14" "0000023102" "00001769" "90" "2492" "0" "2493" "0" "c.2492_2493del" "r.2492_2493del" "p.His831Argfs*52" "15" "0000078654" "00001769" "70" "558" "0" "564" "0" "c.558_564dup" "r.(?)" "p.(Gly189Argfs*11)" "5" "0000078659" "00001769" "90" "3072" "0" "3073" "0" "c.3072_3073del" "r.0?" "p.(Val1026Alafs*6)" "18" "0000078664" "00001769" "70" "1222" "0" "1222" "0" "c.1222C>T" "r.0?" "p.(Gln408*)" "6" "0000078665" "00001769" "90" "1078" "0" "1078" "0" "c.1078C>T" "r.0?" "p.(Gln360*)" "5" "0000078666" "00001769" "70" "1930" "0" "1935" "0" "c.1930_1935dup" "r.(?)" "p.(Ala644_Thr645dup)" "12" "0000078667" "00001769" "90" "1573" "0" "1573" "0" "c.1573del" "r.(?)" "p.(Cys525Alafs*33)" "9" "0000078668" "00001769" "70" "2085" "0" "2085" "0" "c.2085del" "r.0?" "p.(Lys695Asnfs*148)" "13" "0000078669" "00001769" "90" "1391" "-1" "1391" "-1" "c.1391-1G>A" "r.spl?" "p.?" "7i" "0000078670" "00001769" "70" "2277" "0" "2277" "0" "c.2277dup" "r.(?)" "p.(Phe760Leufs*49)" "14" "0000078671" "00001769" "50" "3237" "-20" "3237" "-20" "c.3237-20T>G" "r.(spl?)" "p.(=)" "19i" "0000078672" "00001769" "70" "2569" "0" "2574" "0" "c.2569_2574dup" "r.(?)" "p.(Cys857_Thr858dup)" "15" "0000078673" "00001769" "30" "161" "0" "161" "0" "c.161A>G" "r.(?)" "p.(Gln54Arg)" "15" "0000078674" "00001769" "70" "2789" "0" "2812" "0" "c.2789_2812del" "r.(?)" "p.(His930_Leu937del)" "16" "0000078675" "00001769" "70" "3008" "0" "3009" "0" "c.3008_3009del" "r.(?)" "p.(Val1003Alafs*29)" "17" "0000078676" "00001769" "90" "1573" "0" "1573" "0" "c.1573del" "r.(?)" "p.(Cys525Alafs*33)" "9" "0000078677" "00001769" "70" "3330" "0" "3330" "0" "c.3330dup" "r.(?)" "p.(Glu1111Argfs*116)" "19" "0000078678" "00001769" "90" "1697" "0" "1697" "0" "c.1697T>C" "r.(?)" "p.(Leu566Pro)" "10" "0000078679" "00001769" "50" "3573" "0" "3573" "0" "c.3573C>G" "r.(?)" "p.(Ser1191Arg)" "21" "0000078680" "00001769" "70" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Glu71Gly)" "3" "0000078708" "00001769" "50" "1568" "0" "1568" "0" "c.1568G>C" "r.(?)" "p.(Ser523Thr)" "9" "0000078709" "00001769" "90" "1573" "0" "1573" "0" "c.1573del" "r.(?)" "p.(Cys525Alafs*33)" "9" "0000078710" "00001769" "90" "2269" "0" "2269" "0" "c.2269C>T" "r.(?)" "p.(Gln757*)" "14" "0000078711" "00001769" "30" "213" "10" "213" "10" "c.213+10C>G" "r.(=)" "p.(=)" "3i" "0000078712" "00001769" "50" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Pro92Ser)" "4" "0000078713" "00001769" "50" "1391" "-6" "1391" "-6" "c.1391-6C>A" "r.(=)" "p.(=)" "7i" "0000078714" "00001769" "90" "2590" "0" "2590" "0" "c.2590C>T" "r.(?)" "p.(Gln864*)" "15" "0000078715" "00001769" "50" "1878" "22" "1878" "22" "c.1878+22G>A" "r.(=)" "p.(=)" "11i" "0000079577" "00001769" "00" "2059" "-1" "2059" "-1" "c.2059-1G>A" "r.spl?" "p.?" "" "0000130106" "00001769" "70" "1000" "0" "1000" "0" "c.1000G>T" "r.(?)" "p.(Glu334*)" "" "0000222328" "00001769" "90" "1724" "0" "1725" "0" "c.1724_1725del" "r.(?)" "p.(His575Argfs*7)" "11" "0000222329" "00001769" "70" "691" "0" "691" "0" "c.691G>A" "r.(?)" "p.(Gly231Ser)" "5" "0000222330" "00001769" "90" "1724" "0" "1725" "0" "c.1724_1725del" "r.(?)" "p.(His575Argfs*7)" "11" "0000222331" "00001769" "70" "691" "0" "691" "0" "c.691G>A" "r.(?)" "p.(Gly231Ser)" "5" "0000222332" "00001769" "90" "2421" "0" "2421" "0" "c.2421dup" "r.(?)" "p.(Asp808*)" "14" "0000222333" "00001769" "90" "1770" "0" "1807" "0" "c.1770_1807del" "r.(?)" "p.(Pro591Hisfs*2)" "" "0000248603" "00001769" "10" "3127" "0" "3127" "0" "c.3127=" "r.(=)" "p.(Leu1043=)" "" "0000248915" "00001769" "10" "274" "0" "274" "0" "c.274=" "r.(=)" "p.(Pro92=)" "" "0000250555" "00001769" "50" "1697" "0" "1697" "0" "c.1697T>C" "r.(?)" "p.(Leu566Pro)" "" "0000254549" "00001769" "30" "-3374" "0" "-3374" "0" "c.-3374T>C" "r.(?)" "p.(=)" "" "0000255251" "00001769" "30" "2463" "3" "2463" "3" "c.2463+3T>C" "r.spl?" "p.?" "" "0000255419" "00001769" "90" "1573" "0" "1573" "0" "c.1573del" "r.(?)" "p.(Cys525AlafsTer33)" "" "0000291180" "00001769" "30" "-2661" "0" "-2661" "0" "c.-2661C>A" "r.(?)" "p.(=)" "" "0000297624" "00001769" "10" "1258" "18" "1258" "18" "c.1258+18G>A" "r.(=)" "p.(=)" "" "0000297625" "00001769" "10" "1621" "-15" "1621" "-15" "c.1621-15C>T" "r.(=)" "p.(=)" "" "0000297626" "00001769" "10" "2294" "0" "2296" "0" "c.2294_2296=" "r.(=)" "p.(Leu765=)" "" "0000297627" "00001769" "10" "2463" "18" "2463" "19" "c.2463+18_2463+19del" "r.(=)" "p.(=)" "" "0000297628" "00001769" "10" "3236" "13" "3236" "13" "c.3236+13C>T" "r.(=)" "p.(=)" "" "0000297629" "00001769" "10" "3393" "8" "3393" "8" "c.3393+8C>T" "r.(=)" "p.(=)" "" "0000297630" "00001769" "10" "738" "0" "738" "0" "c.738C>T" "r.(?)" "p.(Ser246=)" "" "0000297631" "00001769" "10" "801" "0" "801" "0" "c.801G>C" "r.(?)" "p.(Glu267Asp)" "" "0000299268" "00001769" "10" "1090" "0" "1090" "0" "c.1090G>A" "r.(?)" "p.(Val364Met)" "" "0000299269" "00001769" "10" "1258" "6" "1258" "6" "c.1258+6A>T" "r.(=)" "p.(=)" "" "0000299270" "00001769" "10" "1395" "0" "1395" "0" "c.1395G>A" "r.(?)" "p.(Thr465=)" "" "0000299271" "00001769" "10" "1565" "0" "1565" "0" "c.1565G>A" "r.(?)" "p.(Arg522His)" "" "0000299272" "00001769" "10" "161" "0" "161" "0" "c.161A>G" "r.(?)" "p.(Gln54Arg)" "" "0000299273" "00001769" "30" "1704" "9" "1704" "9" "c.1704+9C>T" "r.(=)" "p.(=)" "" "0000299274" "00001769" "10" "1772" "0" "1772" "0" "c.1772C>T" "r.(?)" "p.(Pro591Leu)" "" "0000299275" "00001769" "30" "1954" "0" "1954" "0" "c.1954G>A" "r.(?)" "p.(Val652Met)" "" "0000299276" "00001769" "10" "195" "0" "195" "0" "c.195C>G" "r.(?)" "p.(Leu65=)" "" "0000299277" "00001769" "10" "2059" "-16" "2059" "-16" "c.2059-16A>G" "r.(=)" "p.(=)" "" "0000299278" "00001769" "30" "2059" "-26" "2059" "-20" "c.2059-26_2059-20del" "r.(=)" "p.(=)" "" "0000299279" "00001769" "10" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Glu71Gly)" "" "0000299280" "00001769" "10" "2238" "0" "2238" "0" "c.2238G>A" "r.(?)" "p.(Ala746=)" "" "0000299281" "00001769" "50" "2257" "0" "2257" "0" "c.2257C>T" "r.(?)" "p.(Arg753Trp)" "" "0000299282" "00001769" "10" "2395" "0" "2395" "0" "c.2395G>A" "r.(?)" "p.(Val799Met)" "" "0000299283" "00001769" "30" "2460" "0" "2460" "0" "c.2460C>T" "r.(?)" "p.(Pro820=)" "" "0000299284" "00001769" "10" "2463" "16" "2463" "16" "c.2463+16C>A" "r.(=)" "p.(=)" "" "0000299285" "00001769" "30" "2463" "18" "2463" "19" "c.2463+18_2463+19del" "r.(=)" "p.(=)" "" "0000299286" "00001769" "30" "2463" "7" "2463" "7" "c.2463+7del" "r.(=)" "p.(=)" "" "0000299287" "00001769" "10" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Pro879His)" "" "0000299288" "00001769" "30" "2817" "0" "2817" "0" "c.2817G>A" "r.(?)" "p.(Ala939=)" "" "0000299289" "00001769" "30" "2967" "0" "2967" "0" "c.2967G>A" "r.(?)" "p.(Met989Ile)" "" "0000299290" "00001769" "30" "3062" "0" "3062" "0" "c.3062G>A" "r.(?)" "p.(Arg1021Gln)" "" "0000299291" "00001769" "10" "309" "0" "309" "0" "c.309G>A" "r.(?)" "p.(Pro103=)" "" "0000299292" "00001769" "30" "3423" "0" "3423" "0" "c.3423C>T" "r.(?)" "p.(Cys1141=)" "" "0000299293" "00001769" "30" "3435" "0" "3435" "0" "c.3435G>C" "r.(?)" "p.(Gln1145His)" "" "0000299294" "00001769" "10" "3480" "0" "3480" "0" "c.3480G>A" "r.(?)" "p.(Val1160=)" "" "0000299296" "00001769" "10" "3503" "-20" "3503" "-20" "c.3503-20G>A" "r.(=)" "p.(=)" "" "0000299297" "00001769" "30" "358" "0" "358" "0" "c.358G>C" "r.(?)" "p.(Gly120Arg)" "" "0000299298" "00001769" "30" "3609" "0" "3609" "0" "c.3609C>T" "r.(?)" "p.(Leu1203=)" "" "0000299299" "00001769" "10" "465" "0" "465" "0" "c.465C>G" "r.(?)" "p.(Val155=)" "" "0000299300" "00001769" "10" "492" "0" "492" "0" "c.492G>A" "r.(?)" "p.(Glu164=)" "" "0000299301" "00001769" "30" "615" "0" "615" "0" "c.615C>G" "r.(?)" "p.(Pro205=)" "" "0000299302" "00001769" "30" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Ala239Val)" "" "0000299303" "00001769" "30" "720" "0" "720" "0" "c.720A>C" "r.(?)" "p.(Ser240=)" "" "0000301415" "00001769" "30" "3392" "0" "3392" "0" "c.3392G>A" "r.(?)" "p.(Arg1131Lys)" "" "0000306908" "00001769" "90" "1000" "0" "1000" "0" "c.1000G>T" "r.(?)" "p.(Glu334Ter)" "" "0000306909" "00001769" "50" "1445" "0" "1445" "0" "c.1445G>A" "r.(?)" "p.(Arg482His)" "" "0000306910" "00001769" "30" "1570" "0" "1570" "0" "c.1570C>T" "r.(?)" "p.(Pro524Ser)" "" "0000306911" "00001769" "10" "161" "0" "161" "0" "c.161A>G" "r.(?)" "p.(Gln54Arg)" "" "0000306912" "00001769" "30" "1704" "9" "1704" "9" "c.1704+9C>T" "r.(=)" "p.(=)" "" "0000306913" "00001769" "50" "2086" "0" "2086" "0" "c.2086C>T" "r.(?)" "p.(Arg696Cys)" "" "0000306914" "00001769" "50" "2148" "0" "2148" "0" "c.2148C>G" "r.(?)" "p.(Ile716Met)" "" "0000306915" "00001769" "30" "2260" "0" "2260" "0" "c.2260C>T" "r.(?)" "p.(Arg754Trp)" "" "0000306916" "00001769" "50" "2498" "0" "2498" "0" "c.2498A>G" "r.(?)" "p.(His833Arg)" "" "0000306917" "00001769" "30" "2544" "0" "2544" "0" "c.2544C>T" "r.(?)" "p.(Arg848=)" "" "0000306918" "00001769" "50" "2728" "0" "2728" "0" "c.2728G>A" "r.(?)" "p.(Val910Ile)" "" "0000306919" "00001769" "30" "2817" "0" "2817" "0" "c.2817G>A" "r.(?)" "p.(Ala939=)" "" "0000306920" "00001769" "30" "2952" "0" "2952" "0" "c.2952C>T" "r.(?)" "p.(Ser984=)" "" "0000306921" "00001769" "30" "3062" "0" "3062" "0" "c.3062G>A" "r.(?)" "p.(Arg1021Gln)" "" "0000306922" "00001769" "30" "309" "0" "309" "0" "c.309G>A" "r.(?)" "p.(Pro103=)" "" "0000306923" "00001769" "30" "3218" "0" "3218" "0" "c.3218C>T" "r.(?)" "p.(Thr1073Ile)" "" "0000306924" "00001769" "30" "3314" "0" "3314" "0" "c.3314G>A" "r.(?)" "p.(Gly1105Asp)" "" "0000306925" "00001769" "30" "3443" "0" "3443" "0" "c.3443C>T" "r.(?)" "p.(Ser1148Phe)" "" "0000306926" "00001769" "30" "3609" "0" "3609" "0" "c.3609C>T" "r.(?)" "p.(Leu1203=)" "" "0000306927" "00001769" "30" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Ala239Val)" "" "0000306928" "00001769" "30" "885" "0" "885" "0" "c.885G>A" "r.(?)" "p.(Glu295=)" "" "0000332461" "00001769" "30" "8410" "0" "8410" "0" "c.*4782C>T" "r.(=)" "p.(=)" "" "0000332462" "00001769" "50" "8328" "0" "8328" "0" "c.*4700C>G" "r.(=)" "p.(=)" "" "0000332464" "00001769" "30" "8291" "0" "8291" "0" "c.*4663C>T" "r.(=)" "p.(=)" "" "0000332465" "00001769" "50" "8262" "0" "8262" "0" "c.*4634C>G" "r.(=)" "p.(=)" "" "0000332467" "00001769" "30" "4360" "0" "4360" "0" "c.*732A>G" "r.(=)" "p.(=)" "" "0000332468" "00001769" "30" "4227" "0" "4227" "0" "c.*599C>T" "r.(=)" "p.(=)" "" "0000332469" "00001769" "50" "4188" "0" "4188" "0" "c.*560G>A" "r.(=)" "p.(=)" "" "0000332470" "00001769" "50" "4155" "0" "4155" "0" "c.*527C>G" "r.(=)" "p.(=)" "" "0000332471" "00001769" "50" "3531" "0" "3531" "0" "c.3531C>T" "r.(?)" "p.(Tyr1177=)" "" "0000332472" "00001769" "30" "3435" "0" "3435" "0" "c.3435G>C" "r.(?)" "p.(Gln1145His)" "" "0000332473" "00001769" "50" "3237" "-8" "3237" "-8" "c.3237-8C>T" "r.(=)" "p.(=)" "" "0000332474" "00001769" "50" "3172" "0" "3172" "0" "c.3172C>T" "r.(?)" "p.(Arg1058Cys)" "" "0000332475" "00001769" "50" "2994" "0" "2994" "0" "c.2994G>T" "r.(?)" "p.(Trp998Cys)" "" "0000332476" "00001769" "50" "2756" "-8" "2756" "-8" "c.2756-8G>T" "r.(=)" "p.(=)" "" "0000332477" "00001769" "50" "2713" "0" "2713" "0" "c.2713C>A" "r.(?)" "p.(Pro905Thr)" "" "0000332478" "00001769" "30" "2569" "0" "2574" "0" "c.2569_2574dup" "r.(?)" "p.(Cys857_Thr858dup)" "" "0000332479" "00001769" "50" "2569" "0" "2574" "0" "c.2569_2574del" "r.(?)" "p.(Cys857_Thr858del)" "" "0000332480" "00001769" "50" "2086" "0" "2086" "0" "c.2086C>A" "r.(?)" "p.(Arg696Ser)" "" "0000332484" "00001769" "30" "1390" "3" "1390" "3" "c.1390+3G>A" "r.spl?" "p.?" "" "0000332485" "00001769" "50" "1372" "0" "1372" "0" "c.1372C>T" "r.(?)" "p.(Pro458Ser)" "" "0000332486" "00001769" "50" "1348" "0" "1348" "0" "c.1348G>A" "r.(?)" "p.(Val450Met)" "" "0000332487" "00001769" "50" "1238" "0" "1238" "0" "c.1238C>G" "r.(?)" "p.(Ala413Gly)" "" "0000332488" "00001769" "50" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Ala413Thr)" "" "0000332489" "00001769" "30" "1219" "0" "1219" "0" "c.1219G>A" "r.(?)" "p.(Glu407Lys)" "" "0000332492" "00001769" "50" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Gly203Glu)" "" "0000332493" "00001769" "30" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Glu71Gly)" "" "0000332494" "00001769" "30" "161" "0" "161" "0" "c.161A>G" "r.(?)" "p.(Gln54Arg)" "" "0000332496" "00001769" "50" "-2579" "0" "-2579" "0" "c.-2579T>A" "r.(?)" "p.(=)" "" "0000355075" "00001769" "70" "3236" "0" "3236" "0" "c.3236G>T" "r.[[3236g>u;3236_3237ins3236+1_3137-1],3056_3393del]" "p.[Ser1079MetfsTer17,Gly1019AlafsTer95]" "18" "0000355079" "00001769" "70" "3021" "0" "3022" "0" "c.3021_3022del" "r.3021_3022del" "p.Cys1008Profs*24" "17" "0000355080" "00001769" "70" "3054" "0" "3054" "0" "c.3054A>G" "r.spl?" "p.(Thr1018=)" "17" "0000355081" "00001769" "50" "2412" "0" "2420" "0" "c.2412_2420del" "r.(?)" "p.(Ala805_Arg807del)" "9" "0000500524" "00001769" "90" "1879" "-1" "1879" "-1" "c.1879-1G>A" "r.spl" "p.?" "" "0000534262" "00001769" "30" "4399" "0" "4399" "0" "c.*771G>A" "r.(=)" "p.(=)" "" "0000534265" "00001769" "50" "3651" "0" "3651" "0" "c.*23G>A" "r.(=)" "p.(=)" "" "0000534266" "00001769" "50" "3622" "0" "3622" "0" "c.3622C>T" "r.(?)" "p.(Arg1208Cys)" "" "0000534267" "00001769" "30" "3622" "0" "3622" "0" "c.3622C>T" "r.(?)" "p.(Arg1208Cys)" "" "0000534268" "00001769" "50" "3609" "0" "3609" "0" "c.3609C>T" "r.(?)" "p.(Leu1203=)" "" "0000534269" "00001769" "10" "3609" "0" "3609" "0" "c.3609C>T" "r.(?)" "p.(Leu1203=)" "" "0000534270" "00001769" "30" "3503" "-18" "3503" "-17" "c.3503-18_3503-17dup" "r.(=)" "p.(=)" "" "0000534271" "00001769" "30" "3495" "0" "3495" "0" "c.3495C>T" "r.(?)" "p.(His1165=)" "" "0000534272" "00001769" "30" "3456" "0" "3456" "0" "c.3456G>C" "r.(?)" "p.(Glu1152Asp)" "" "0000534273" "00001769" "30" "3443" "0" "3443" "0" "c.3443C>T" "r.(?)" "p.(Ser1148Phe)" "" "0000534274" "00001769" "30" "3435" "0" "3435" "0" "c.3435G>C" "r.(?)" "p.(Gln1145His)" "" "0000534275" "00001769" "30" "3431" "0" "3431" "0" "c.3431G>A" "r.(?)" "p.(Arg1144His)" "" "0000534276" "00001769" "30" "3393" "9" "3393" "9" "c.3393+9A>G" "r.(=)" "p.(=)" "" "0000534277" "00001769" "10" "3393" "9" "3393" "9" "c.3393+9A>G" "r.(=)" "p.(=)" "" "0000534278" "00001769" "10" "3393" "8" "3393" "8" "c.3393+8C>T" "r.(=)" "p.(=)" "" "0000534279" "00001769" "50" "3347" "0" "3347" "0" "c.3347C>T" "r.(?)" "p.(Pro1116Leu)" "" "0000534280" "00001769" "30" "3337" "0" "3337" "0" "c.3337G>C" "r.(?)" "p.(Gly1113Arg)" "" "0000534281" "00001769" "30" "3314" "0" "3314" "0" "c.3314G>A" "r.(?)" "p.(Gly1105Asp)" "" "0000534282" "00001769" "30" "3236" "13" "3236" "13" "c.3236+13C>T" "r.(=)" "p.(=)" "" "0000534283" "00001769" "30" "3219" "0" "3219" "0" "c.3219C>G" "r.(?)" "p.(Thr1073=)" "" "0000534284" "00001769" "30" "3143" "0" "3143" "0" "c.3143A>G" "r.(?)" "p.(Lys1048Arg)" "" "0000534285" "00001769" "30" "3133" "0" "3133" "0" "c.3133G>A" "r.(?)" "p.(Ala1045Thr)" "" "0000534286" "00001769" "50" "3112" "0" "3112" "0" "c.3112C>T" "r.(?)" "p.(Arg1038Cys)" "" "0000534287" "00001769" "30" "3062" "0" "3062" "0" "c.3062G>A" "r.(?)" "p.(Arg1021Gln)" "" "0000534288" "00001769" "10" "3058" "0" "3058" "0" "c.3058G>A" "r.(?)" "p.(Val1020Met)" "" "0000534289" "00001769" "10" "3014" "0" "3014" "0" "c.3014G>A" "r.(?)" "p.(Arg1005Gln)" "" "0000534290" "00001769" "10" "3014" "0" "3014" "0" "c.3014G>A" "r.(?)" "p.(Arg1005Gln)" "" "0000534291" "00001769" "50" "3010" "0" "3010" "0" "c.3010C>T" "r.(?)" "p.(Arg1004Trp)" "" "0000534292" "00001769" "30" "2817" "0" "2817" "0" "c.2817G>A" "r.(?)" "p.(Ala939=)" "" "0000534293" "00001769" "30" "2808" "0" "2808" "0" "c.2808G>A" "r.(?)" "p.(Glu936=)" "" "0000534294" "00001769" "30" "2784" "0" "2784" "0" "c.2784G>A" "r.(?)" "p.(Glu928=)" "" "0000534295" "00001769" "30" "2755" "16" "2755" "16" "c.2755+16T>C" "r.(=)" "p.(=)" "" "0000534296" "00001769" "50" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Pro879His)" "" "0000534297" "00001769" "30" "2615" "0" "2615" "0" "c.2615G>A" "r.(?)" "p.(Arg872Lys)" "" "0000534298" "00001769" "30" "2610" "0" "2610" "0" "c.2610G>C" "r.(?)" "p.(Gly870=)" "" "0000534299" "00001769" "30" "2585" "0" "2585" "0" "c.2585C>T" "r.(?)" "p.(Ser862Leu)" "" "0000534301" "00001769" "30" "2544" "0" "2544" "0" "c.2544C>T" "r.(?)" "p.(Arg848=)" "" "0000534302" "00001769" "30" "2464" "-6" "2464" "-6" "c.2464-6C>T" "r.(=)" "p.(=)" "" "0000534303" "00001769" "10" "2463" "18" "2463" "18" "c.2463+18C>A" "r.(=)" "p.(=)" "" "0000534305" "00001769" "30" "2463" "19" "2463" "19" "c.2463+19del" "r.(=)" "p.(=)" "" "0000534306" "00001769" "10" "2463" "7" "2463" "7" "c.2463+7A>C" "r.(=)" "p.(=)" "" "0000534308" "00001769" "10" "2463" "6" "2463" "6" "c.2463+6C>T" "r.(=)" "p.(=)" "" "0000534309" "00001769" "30" "2460" "0" "2460" "0" "c.2460C>T" "r.(?)" "p.(Pro820=)" "" "0000534310" "00001769" "30" "2460" "0" "2460" "0" "c.2460C>T" "r.(?)" "p.(Pro820=)" "" "0000534311" "00001769" "30" "2460" "0" "2460" "0" "c.2460C>T" "r.(?)" "p.(Pro820=)" "" "0000534312" "00001769" "30" "2424" "0" "2424" "0" "c.2424C>T" "r.(?)" "p.(Asp808=)" "" "0000534313" "00001769" "90" "2415" "0" "2415" "0" "c.2415dup" "r.(?)" "p.(Gly806ArgfsTer3)" "" "0000534315" "00001769" "30" "2395" "0" "2395" "0" "c.2395G>A" "r.(?)" "p.(Val799Met)" "" "0000534316" "00001769" "50" "2395" "0" "2395" "0" "c.2395G>A" "r.(?)" "p.(Val799Met)" "" "0000534317" "00001769" "10" "2395" "0" "2395" "0" "c.2395G>A" "r.(?)" "p.(Val799Met)" "" "0000534318" "00001769" "10" "2395" "0" "2395" "0" "c.2395G>A" "r.(?)" "p.(Val799Met)" "" "0000534319" "00001769" "30" "2273" "0" "2273" "0" "c.2273G>A" "r.(?)" "p.(Arg758Gln)" "" "0000534320" "00001769" "90" "2269" "0" "2269" "0" "c.2269C>T" "r.(?)" "p.(Gln757Ter)" "" "0000534321" "00001769" "50" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(Arg755Trp)" "" "0000534322" "00001769" "30" "2260" "0" "2260" "0" "c.2260C>T" "r.(?)" "p.(Arg754Trp)" "" "0000534323" "00001769" "30" "2223" "0" "2223" "0" "c.2223C>T" "r.(?)" "p.(Ala741=)" "" "0000534324" "00001769" "30" "2204" "0" "2204" "0" "c.2204G>A" "r.(?)" "p.(Arg735His)" "" "0000534325" "00001769" "90" "2161" "0" "2161" "0" "c.2161C>T" "r.(?)" "p.(Arg721Ter)" "" "0000534326" "00001769" "50" "2082" "0" "2082" "0" "c.2082C>T" "r.(?)" "p.(Gly694=)" "" "0000534327" "00001769" "30" "2059" "-8" "2059" "-6" "c.2059-8_2059-6del" "r.(=)" "p.(=)" "" "0000534328" "00001769" "30" "1966" "0" "1966" "0" "c.1966C>T" "r.(?)" "p.(Leu656=)" "" "0000534329" "00001769" "30" "1954" "0" "1954" "0" "c.1954G>A" "r.(?)" "p.(Val652Met)" "" "0000534330" "00001769" "50" "1868" "0" "1868" "0" "c.1868G>A" "r.(?)" "p.(Arg623His)" "" "0000534331" "00001769" "50" "1853" "0" "1853" "0" "c.1853G>A" "r.(?)" "p.(Arg618Gln)" "" "0000534332" "00001769" "30" "1840" "0" "1840" "0" "c.1840T>C" "r.(?)" "p.(Ser614Pro)" "" "0000534333" "00001769" "30" "1820" "0" "1820" "0" "c.1820C>T" "r.(?)" "p.(Ala607Val)" "" "0000534334" "00001769" "50" "1720" "0" "1720" "0" "c.1720G>A" "r.(?)" "p.(Val574Ile)" "" "0000534335" "00001769" "30" "1626" "0" "1626" "0" "c.1626T>C" "r.(?)" "p.(Ser542=)" "" "0000534336" "00001769" "30" "1621" "-8" "1621" "-8" "c.1621-8A>G" "r.(=)" "p.(=)" "" "0000534337" "00001769" "30" "1621" "-8" "1621" "-8" "c.1621-8A>G" "r.(=)" "p.(=)" "" "0000534338" "00001769" "30" "1621" "-8" "1621" "-8" "c.1621-8A>G" "r.(=)" "p.(=)" "" "0000534339" "00001769" "10" "1621" "-15" "1621" "-15" "c.1621-15C>T" "r.(=)" "p.(=)" "" "0000534340" "00001769" "90" "1573" "0" "1573" "0" "c.1573del" "r.(?)" "p.(Cys525AlafsTer33)" "" "0000534342" "00001769" "30" "1548" "0" "1548" "0" "c.1548G>A" "r.(?)" "p.(Ala516=)" "" "0000534343" "00001769" "90" "1391" "-1" "1391" "-1" "c.1391-1G>A" "r.spl?" "p.?" "" "0000534344" "00001769" "30" "1390" "3" "1390" "3" "c.1390+3G>A" "r.spl?" "p.?" "" "0000534345" "00001769" "30" "1390" "3" "1390" "3" "c.1390+3G>A" "r.spl?" "p.?" "" "0000534346" "00001769" "90" "1390" "2" "1390" "2" "c.1390+2del" "r.spl?" "p.?" "" "0000534348" "00001769" "30" "1258" "6" "1258" "6" "c.1258+6A>T" "r.(=)" "p.(=)" "" "0000534349" "00001769" "10" "1258" "6" "1258" "6" "c.1258+6A>T" "r.(=)" "p.(=)" "" "0000534350" "00001769" "30" "1238" "0" "1238" "0" "c.1238C>G" "r.(?)" "p.(Ala413Gly)" "" "0000534351" "00001769" "30" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Ala413Thr)" "" "0000534352" "00001769" "50" "1170" "0" "1170" "0" "c.1170T>C" "r.(?)" "p.(Phe390=)" "" "0000534353" "00001769" "90" "1149" "0" "1149" "0" "c.1149G>A" "r.(?)" "p.(Trp383Ter)" "" "0000534354" "00001769" "30" "1132" "-9" "1132" "-9" "c.1132-9A>G" "r.(=)" "p.(=)" "" "0000534355" "00001769" "30" "1131" "9" "1131" "9" "c.1131+9G>A" "r.(=)" "p.(=)" "" "0000534356" "00001769" "30" "1071" "0" "1071" "0" "c.1071C>T" "r.(?)" "p.(Asn357=)" "" "0000534357" "00001769" "90" "1048" "0" "1049" "0" "c.1048_1049del" "r.(?)" "p.(Arg350GlyfsTer21)" "" "0000534358" "00001769" "90" "1048" "0" "1049" "0" "c.1048_1049del" "r.(?)" "p.(Arg350GlyfsTer21)" "" "0000534359" "00001769" "10" "801" "0" "801" "0" "c.801G>C" "r.(?)" "p.(Glu267Asp)" "" "0000534361" "00001769" "30" "755" "0" "755" "0" "c.755C>T" "r.(?)" "p.(Pro252Leu)" "" "0000534362" "00001769" "10" "738" "0" "738" "0" "c.738C>T" "r.(?)" "p.(Ser246=)" "" "0000534363" "00001769" "30" "723" "0" "723" "0" "c.723C>G" "r.(?)" "p.(Ala241=)" "" "0000534364" "00001769" "30" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000534366" "00001769" "30" "543" "0" "543" "0" "c.543G>A" "r.(?)" "p.(Gln181=)" "" "0000534367" "00001769" "30" "355" "-8" "355" "-8" "c.355-8C>T" "r.(=)" "p.(=)" "" "0000534368" "00001769" "50" "308" "0" "308" "0" "c.308C>T" "r.(?)" "p.(Pro103Leu)" "" "0000534369" "00001769" "30" "213" "6" "213" "6" "c.213+6del" "r.(=)" "p.(=)" "" "0000534370" "00001769" "10" "132" "0" "132" "0" "c.132A>G" "r.(?)" "p.(Glu44=)" "" "0000534371" "00001769" "10" "132" "0" "132" "0" "c.132A>G" "r.(?)" "p.(Glu44=)" "" "0000534372" "00001769" "30" "20" "0" "20" "0" "c.20T>G" "r.(?)" "p.(Val7Gly)" "" "0000611533" "00001769" "30" "2926" "0" "2926" "0" "c.2926G>A" "r.(?)" "p.(Glu976Lys)" "" "0000611534" "00001769" "50" "2747" "0" "2747" "0" "c.2747C>T" "r.(?)" "p.(Pro916Leu)" "" "0000611535" "00001769" "10" "2636" "0" "2636" "0" "c.2636C>A" "r.(?)" "p.(Pro879His)" "" "0000611536" "00001769" "50" "2550" "0" "2550" "0" "c.2550C>A" "r.(?)" "p.(Phe850Leu)" "" "0000611537" "00001769" "30" "2463" "10" "2463" "10" "c.2463+10C>T" "r.(=)" "p.(=)" "" "0000611538" "00001769" "50" "2417" "0" "2417" "0" "c.2417G>A" "r.(?)" "p.(Gly806Glu)" "" "0000611539" "00001769" "30" "2364" "0" "2364" "0" "c.2364T>G" "r.(?)" "p.(His788Gln)" "" "0000611540" "00001769" "50" "2299" "0" "2299" "0" "c.2299del" "r.(?)" "p.(Val767TrpfsTer76)" "" "0000611541" "00001769" "50" "2126" "0" "2126" "0" "c.2126G>A" "r.(?)" "p.(Arg709Gln)" "" "0000611542" "00001769" "30" "1954" "0" "1954" "0" "c.1954G>A" "r.(?)" "p.(Val652Met)" "" "0000611543" "00001769" "50" "1684" "0" "1684" "0" "c.1684C>T" "r.(?)" "p.(Arg562Trp)" "" "0000611544" "00001769" "30" "1565" "0" "1565" "0" "c.1565G>A" "r.(?)" "p.(Arg522His)" "" "0000611545" "00001769" "30" "1390" "3" "1390" "3" "c.1390+3G>A" "r.spl?" "p.?" "" "0000611546" "00001769" "30" "1048" "0" "1048" "0" "c.1048A>G" "r.(?)" "p.(Arg350Gly)" "" "0000611547" "00001769" "50" "337" "0" "337" "0" "c.337C>A" "r.(?)" "p.(Leu113Met)" "" "0000622026" "00001769" "50" "3419" "0" "3419" "0" "c.3419G>A" "r.(?)" "p.(Arg1140His)" "" "0000622027" "00001769" "30" "2967" "0" "2967" "0" "c.2967G>A" "r.(?)" "p.(Met989Ile)" "" "0000622028" "00001769" "30" "1398" "0" "1398" "0" "c.1398G>A" "r.(?)" "p.(Pro466=)" "" "0000622029" "00001769" "50" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344Trp)" "" "0000622030" "00001769" "30" "85" "-13" "85" "-13" "c.85-13G>T" "r.(=)" "p.(=)" "" "0000652453" "00001769" "30" "3315" "0" "3315" "0" "c.3315G>A" "" "" "" "0000652454" "00001769" "10" "2396" "0" "2396" "0" "c.2396G>A" "" "" "" "0000652455" "00001769" "10" "2378" "0" "2378" "0" "c.2378C>T" "r.(?)" "p.(Pro793Leu)" "" "0000652456" "00001769" "10" "1565" "0" "1565" "0" "c.1565G>A" "r.(?)" "p.(Arg522His)" "" "0000652457" "00001769" "10" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Arg522Cys)" "" "0000652458" "00001769" "30" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Leu172Phe)" "" "0000653462" "00001769" "70" "2161" "0" "2161" "0" "c.2161C>T" "r.(?)" "p.(Arg721*)" "" "0000656040" "00001769" "30" "3622" "0" "3622" "0" "c.3622C>T" "r.(?)" "p.(Arg1208Cys)" "" "0000656041" "00001769" "30" "3495" "0" "3495" "0" "c.3495C>T" "r.(?)" "p.(His1165=)" "" "0000656044" "00001769" "30" "2724" "0" "2724" "0" "c.2724T>C" "r.(?)" "p.(Leu908=)" "" "0000656045" "00001769" "90" "2492" "0" "2493" "0" "c.2492_2493del" "r.(?)" "p.(His831ArgfsTer52)" "" "0000656046" "00001769" "30" "2463" "6" "2463" "6" "c.2463+6C>T" "r.(=)" "p.(=)" "" "0000656047" "00001769" "50" "2251" "0" "2251" "0" "c.2251C>T" "r.(?)" "p.(Arg751Trp)" "" "0000656048" "00001769" "30" "1995" "0" "1995" "0" "c.1995C>T" "r.(?)" "p.(His665=)" "" "0000656049" "00001769" "30" "1842" "0" "1842" "0" "c.1842C>T" "r.(?)" "p.(Ser614=)" "" "0000656050" "00001769" "30" "1704" "9" "1704" "9" "c.1704+9C>T" "r.(=)" "p.(=)" "" "0000656051" "00001769" "30" "1683" "0" "1683" "0" "c.1683A>G" "r.(?)" "p.(Gln561=)" "" "0000656052" "00001769" "50" "1584" "0" "1584" "0" "c.1584G>A" "r.(?)" "p.(Leu528=)" "" "0000656053" "00001769" "50" "1238" "0" "1238" "0" "c.1238C>G" "r.(?)" "p.(Ala413Gly)" "" "0000656054" "00001769" "50" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Ala413Thr)" "" "0000656056" "00001769" "30" "543" "0" "543" "0" "c.543G>A" "r.(?)" "p.(Gln181=)" "" "0000656057" "00001769" "30" "214" "-3" "214" "-3" "c.214-3C>T" "r.spl?" "p.?" "" "0000660285" "00001769" "90" "1391" "-1" "1391" "-1" "c.1391-1G>A" "r.(?)" "p.(?)" "" "0000670002" "00001769" "30" "3315" "0" "3315" "0" "c.3315G>A" "" "" "" "0000678334" "00001769" "30" "3056" "-6" "3056" "-6" "c.3056-6C>T" "r.(=)" "p.(=)" "" "0000678335" "00001769" "30" "2687" "0" "2687" "0" "c.2687T>C" "r.(?)" "p.(Val896Ala)" "" "0000678336" "00001769" "50" "2303" "0" "2303" "0" "c.2303T>C" "r.(?)" "p.(Val768Ala)" "" "0000678337" "00001769" "90" "1573" "0" "1573" "0" "c.1573del" "r.(?)" "p.(Cys525AlafsTer33)" "" "0000678338" "00001769" "50" "1485" "0" "1485" "0" "c.1485C>T" "r.(?)" "p.(Gly495=)" "" "0000678339" "00001769" "30" "1090" "0" "1090" "0" "c.1090G>A" "r.(?)" "p.(Val364Met)" "" "0000678340" "00001769" "30" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Gly236Ser)" "" "0000690209" "00001769" "30" "3531" "0" "3531" "0" "c.3531C>T" "r.(?)" "p.(Tyr1177=)" "" "0000690210" "00001769" "50" "3055" "5" "3055" "5" "c.3055+5G>A" "r.spl?" "p.?" "" "0000721871" "00001769" "30" "3062" "0" "3062" "0" "c.3062G>A" "r.(?)" "p.(Arg1021Gln)" "" "0000721872" "00001769" "30" "2756" "-6" "2756" "-6" "c.2756-6C>T" "r.(=)" "p.(=)" "" "0000721873" "00001769" "90" "2547" "0" "2548" "0" "c.2547_2548del" "r.(?)" "p.(Phe850Profs*33)" "" "0000721874" "00001769" "70" "2464" "-1" "2464" "-1" "c.2464-1G>C" "r.spl?" "p.?" "" "0000721875" "00001769" "50" "2426" "0" "2426" "0" "c.2426G>A" "r.(?)" "p.(Gly809Glu)" "" "0000721876" "00001769" "50" "2420" "0" "2420" "0" "c.2420G>A" "r.(?)" "p.(Arg807His)" "" "0000721877" "00001769" "50" "2200" "5" "2200" "5" "c.2200+5G>A" "r.spl?" "p.?" "" "0000721878" "00001769" "30" "2070" "0" "2070" "0" "c.2070G>A" "r.(?)" "p.(Thr690=)" "" "0000721879" "00001769" "30" "1940" "0" "1940" "0" "c.1940G>A" "r.(?)" "p.(Arg647His)" "" "0000721880" "00001769" "30" "1847" "0" "1847" "0" "c.1847A>G" "r.(?)" "p.(Asn616Ser)" "" "0000721881" "00001769" "50" "1847" "0" "1847" "0" "c.1847A>G" "r.(?)" "p.(Asn616Ser)" "" "0000721882" "00001769" "30" "1460" "0" "1460" "0" "c.1460G>A" "r.(?)" "p.(Arg487His)" "" "0000721883" "00001769" "50" "1115" "0" "1115" "0" "c.1115G>C" "r.(?)" "p.(Arg372Thr)" "" "0000721884" "00001769" "30" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(Asp297=)" "" "0000721885" "00001769" "30" "565" "0" "565" "0" "c.565G>A" "r.(?)" "p.(Gly189Ser)" "" "0000803549" "00001769" "30" "3314" "0" "3314" "0" "c.3314G>A" "r.(?)" "p.(Gly1105Asp)" "" "0000803550" "00001769" "30" "3009" "0" "3009" "0" "c.3009G>A" "r.(?)" "p.(Val1003=)" "" "0000803551" "00001769" "30" "2953" "0" "2953" "0" "c.2953G>A" "r.(?)" "p.(Val985Met)" "" "0000803552" "00001769" "30" "2915" "0" "2915" "0" "c.2915A>T" "r.(?)" "p.(Gln972Leu)" "" "0000803553" "00001769" "30" "2756" "-8" "2756" "-8" "c.2756-8G>T" "r.(=)" "p.(=)" "" "0000803554" "00001769" "30" "2579" "0" "2579" "0" "c.2579C>T" "r.(?)" "p.(Pro860Leu)" "" "0000803555" "00001769" "90" "2547" "0" "2548" "0" "c.2547_2548del" "r.(?)" "p.(Phe850Profs*33)" "" "0000803556" "00001769" "50" "2425" "0" "2425" "0" "c.2425G>A" "r.(?)" "p.(Gly809Arg)" "" "0000803557" "00001769" "50" "2086" "0" "2086" "0" "c.2086C>A" "r.(?)" "p.(Arg696Ser)" "" "0000803558" "00001769" "30" "2023" "0" "2023" "0" "c.2023C>T" "r.(?)" "p.(His675Tyr)" "" "0000803559" "00001769" "50" "1685" "0" "1685" "0" "c.1685G>A" "r.(?)" "p.(Arg562Gln)" "" "0000803560" "00001769" "50" "1568" "0" "1568" "0" "c.1568G>C" "r.(?)" "p.(Ser523Thr)" "" "0000803561" "00001769" "30" "1115" "0" "1115" "0" "c.1115G>C" "r.(?)" "p.(Arg372Thr)" "" "0000803562" "00001769" "30" "615" "0" "615" "0" "c.615C>G" "r.(?)" "p.(Pro205=)" "" "0000803563" "00001769" "30" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Pro149Ser)" "" "0000803564" "00001769" "50" "29" "0" "29" "0" "c.29G>A" "r.(?)" "p.(Arg10Gln)" "" "0000814441" "00001769" "90" "2492" "0" "2493" "0" "c.2492_2493del" "r.(?)" "p.(His831ArgfsTer52)" "" "0000833387" "00001769" "50" "3435" "0" "3435" "0" "c.3435G>C" "r.(?)" "p.(Gln1145His)" "" "0000833388" "00001769" "50" "1390" "3" "1390" "3" "c.1390+3G>A" "r.spl?" "p.(?)" "" "0000845115" "00001769" "90" "1060" "0" "1060" "0" "c.1060G>A" "r.(?)" "p.(Val354Ile)" "" "0000851855" "00001769" "30" "3042" "0" "3042" "0" "c.3042C>T" "r.(?)" "p.(His1014=)" "" "0000851856" "00001769" "50" "2894" "0" "2894" "0" "c.2894C>T" "r.(?)" "p.(Pro965Leu)" "" "0000851857" "00001769" "30" "2585" "0" "2585" "0" "c.2585C>T" "r.(?)" "p.(Ser862Leu)" "" "0000851858" "00001769" "50" "2339" "0" "2339" "0" "c.2339G>A" "r.(?)" "p.(Arg780Gln)" "" "0000851859" "00001769" "50" "2312" "0" "2312" "0" "c.2312C>T" "r.(?)" "p.(Thr771Met)" "" "0000851860" "00001769" "30" "2136" "0" "2136" "0" "c.2136C>T" "r.(?)" "p.(Asp712=)" "" "0000851861" "00001769" "50" "2032" "0" "2032" "0" "c.2032G>A" "r.(?)" "p.(Val678Met)" "" "0000851862" "00001769" "30" "1985" "0" "1985" "0" "c.1985C>T" "r.(?)" "p.(Pro662Leu)" "" "0000851863" "00001769" "50" "1853" "0" "1853" "0" "c.1853G>A" "r.(?)" "p.(Arg618Gln)" "" "0000851864" "00001769" "30" "213" "6" "213" "6" "c.213+6del" "r.(=)" "p.(=)" "" "0000851865" "00001769" "30" "85" "-8" "85" "-8" "c.85-8C>T" "r.(=)" "p.(=)" "" "0000851866" "00001769" "30" "20" "0" "20" "0" "c.20T>G" "r.(?)" "p.(Val7Gly)" "" "0000861139" "00001769" "30" "3624" "0" "3624" "0" "c.3624C>T" "r.(?)" "p.(Arg1208=)" "" "0000861140" "00001769" "30" "3337" "0" "3337" "0" "c.3337G>C" "r.(?)" "p.(Gly1113Arg)" "" "0000861141" "00001769" "50" "3010" "0" "3010" "0" "c.3010C>T" "r.(?)" "p.(Arg1004Trp)" "" "0000861142" "00001769" "50" "2543" "0" "2543" "0" "c.2543G>A" "r.(?)" "p.(Arg848His)" "" "0000861143" "00001769" "50" "2540" "0" "2540" "0" "c.2540A>G" "r.(?)" "p.(Gln847Arg)" "" "0000861144" "00001769" "30" "2503" "0" "2503" "0" "c.2503G>A" "r.(?)" "p.(Asp835Asn)" "" "0000861145" "00001769" "30" "2185" "0" "2185" "0" "c.2185G>C" "r.(?)" "p.(Val729Leu)" "" "0000861146" "00001769" "50" "1617" "0" "1617" "0" "c.1617C>G" "r.(?)" "p.(Asp539Glu)" "" "0000873699" "00001769" "70" "447" "0" "447" "0" "c.447dup" "r.(447dup)" "p.(Ser150Leufs*8)" "" "0000873703" "00001769" "90" "2269" "0" "2269" "0" "c.2269C>T" "r.(2269c>u)" "p.(Gln757*)" "" "0000873712" "00001769" "90" "2547" "0" "2548" "0" "c.2547_2548del" "r.(2547_2548del)" "p.(Phe850Profs*33)" "" "0000873713" "00001769" "70" "3217" "0" "3217" "0" "c.3217del" "r.(3217del)" "p.(Thr1073Profs*8)" "" "0000876917" "00001769" "70" "1048" "0" "1049" "0" "c.1048_1049del" "r.(?)" "p.(Arg350Glyfs*21)" "" "0000876918" "00001769" "70" "320" "0" "320" "0" "c.320del" "r.(302del)" "p.(Gln107Argfs*7)" "" "0000876919" "00001769" "90" "2161" "0" "2161" "0" "c.2161C>T" "r.(?)" "p.(Arg721*)" "" "0000888234" "00001769" "30" "3443" "0" "3443" "0" "c.3443C>T" "r.(?)" "p.(Ser1148Phe)" "" "0000888235" "00001769" "30" "3337" "0" "3337" "0" "c.3337G>C" "r.(?)" "p.(Gly1113Arg)" "" "0000888236" "00001769" "30" "3133" "0" "3133" "0" "c.3133G>A" "r.(?)" "p.(Ala1045Thr)" "" "0000888237" "00001769" "10" "2464" "-17" "2464" "-17" "c.2464-17T>C" "r.(=)" "p.(=)" "" "0000888238" "00001769" "30" "2415" "0" "2415" "0" "c.2415C>T" "r.(?)" "p.(Ala805=)" "" "0000888239" "00001769" "30" "2261" "0" "2261" "0" "c.2261G>A" "r.(?)" "p.(Arg754Gln)" "" "0000888240" "00001769" "30" "2238" "0" "2238" "0" "c.2238G>A" "r.(?)" "p.(Ala746=)" "" "0000888241" "00001769" "50" "2082" "0" "2082" "0" "c.2082C>T" "r.(?)" "p.(Gly694=)" "" "0000888242" "00001769" "90" "1697" "0" "1697" "0" "c.1697T>C" "r.(?)" "p.(Leu566Pro)" "" "0000888243" "00001769" "70" "1697" "0" "1697" "0" "c.1697T>C" "r.(?)" "p.(Leu566Pro)" "" "0000888244" "00001769" "30" "1565" "0" "1565" "0" "c.1565G>A" "r.(?)" "p.(Arg522His)" "" "0000888245" "00001769" "10" "633" "0" "633" "0" "c.633T>C" "r.(?)" "p.(Asp211=)" "" "0000888246" "00001769" "30" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(His174Tyr)" "" "0000888247" "00001769" "10" "300" "0" "300" "0" "c.300C>T" "r.(?)" "p.(Gly100=)" "" "0000912911" "00001769" "30" "3435" "0" "3435" "0" "c.3435G>C" "r.(?)" "p.(Gln1145His)" "" "0000912912" "00001769" "30" "3144" "0" "3144" "0" "c.3144G>A" "r.(?)" "p.(Lys1048=)" "" "0000912913" "00001769" "50" "3113" "0" "3113" "0" "c.3113G>A" "r.(?)" "p.(Arg1038His)" "" "0000912914" "00001769" "30" "2755" "3" "2755" "3" "c.2755+3G>A" "r.spl?" "p.?" "" "0000912915" "00001769" "30" "2724" "0" "2724" "0" "c.2724T>C" "r.(?)" "p.(Leu908=)" "" "0000912916" "00001769" "10" "1879" "-15" "1879" "-15" "c.1879-15C>A" "r.(=)" "p.(=)" "" "0000912917" "00001769" "70" "1697" "0" "1697" "0" "c.1697T>C" "r.(?)" "p.(Leu566Pro)" "" "0000912918" "00001769" "90" "1484" "-2" "1484" "-2" "c.1484-2A>G" "r.spl?" "p.?" "" "0000912919" "00001769" "90" "1048" "0" "1049" "0" "c.1048_1049del" "r.(?)" "p.(Arg350GlyfsTer21)" "" "0000917054" "00001769" "90" "2547" "0" "2548" "0" "c.2547_2548del" "r.(?)" "p.(Phe850Profs*33)" "" "0000920329" "00001769" "90" "2269" "0" "2269" "0" "c.2269C>T" "r.(?)" "p.(Gln757Ter)" "14" "0000920368" "00001769" "50" "3056" "-3" "3056" "-3" "c.3056-3C>A" "r.spl?" "p.?" "17i" "0000924844" "00001769" "30" "4386" "0" "4386" "0" "c.*758G>A" "r.(=)" "p.(=)" "" "0000924845" "00001769" "30" "2886" "-18" "2886" "-18" "c.2886-18C>T" "r.(=)" "p.(=)" "" "0000924846" "00001769" "30" "2569" "0" "2574" "0" "c.2569_2574dup" "r.(?)" "p.(Cys857_Thr858dup)" "" "0000924847" "00001769" "50" "1900" "0" "1900" "0" "c.1900G>A" "r.(?)" "p.(Val634Met)" "" "0000924848" "00001769" "30" "1398" "0" "1398" "0" "c.1398G>A" "r.(?)" "p.(Pro466=)" "" "0000924849" "00001769" "30" "720" "0" "720" "0" "c.720A>C" "r.(?)" "p.(Ser240=)" "" "0000924850" "00001769" "30" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Ala239Val)" "" "0000929426" "00001769" "50" "2425" "0" "2425" "0" "c.2425G>A" "r.(?)" "p.(Gly809Arg)" "" "0000929427" "00001769" "50" "2086" "0" "2086" "0" "c.2086C>T" "r.(?)" "p.(Arg696Cys)" "" "0000929428" "00001769" "10" "161" "0" "161" "0" "c.161A>G" "r.(?)" "p.(Gln54Arg)" "" "0000949048" "00001769" "30" "2544" "0" "2544" "0" "c.2544C>T" "r.(?)" "p.(Arg848=)" "" "0000949049" "00001769" "50" "1568" "0" "1568" "0" "c.1568G>C" "r.(?)" "p.(Ser523Thr)" "" "0000949050" "00001769" "30" "543" "0" "543" "0" "c.543G>A" "r.(?)" "p.(Gln181=)" "" "0000952115" "00001769" "90" "34" "0" "34" "0" "c.34C>T" "r.(?)" "p.(Gln12*)" "" "0000964928" "00001769" "50" "2128" "0" "2128" "0" "c.2128C>T" "r.(?)" "p.?" "" "0000964929" "00001769" "50" "1940" "0" "1940" "0" "c.1940G>A" "r.(?)" "p.(Arg647His)" "" "0000978134" "00001769" "30" "3921" "0" "3921" "0" "c.*293C>T" "r.(=)" "p.(=)" "" "0000978135" "00001769" "50" "2741" "0" "2741" "0" "c.2741G>A" "r.(?)" "p.?" "" "0000978136" "00001769" "50" "2308" "0" "2310" "0" "c.2308_2310dup" "r.?" "p.?" "" "0000978137" "00001769" "30" "1864" "0" "1864" "0" "c.1864C>T" "r.(?)" "p.?" "" "0000978138" "00001769" "50" "1735" "0" "1735" "0" "c.1735C>A" "r.(?)" "p.?" "" "0000978139" "00001769" "30" "1395" "0" "1395" "0" "c.1395G>A" "r.(?)" "p.(Thr465=)" "" "0000978140" "00001769" "30" "1189" "0" "1189" "0" "c.1189G>A" "r.(?)" "p.?" "" "0000997062" "00001769" "30" "8322" "0" "8322" "0" "c.*4694C>A" "r.(=)" "p.(=)" "" "0000997063" "00001769" "50" "8135" "0" "8135" "0" "c.*4507G>A" "r.(=)" "p.(=)" "" "0000997064" "00001769" "30" "3314" "0" "3314" "0" "c.3314G>A" "r.(?)" "p.(Gly1105Asp)" "" "0000997065" "00001769" "50" "2296" "0" "2296" "0" "c.2296C>T" "r.(?)" "p.?" "" "0000997066" "00001769" "50" "2296" "0" "2296" "0" "c.2296C>A" "r.(?)" "p.?" "" "0000997067" "00001769" "30" "1398" "0" "1398" "0" "c.1398G>A" "r.(?)" "p.(Pro466=)" "" "0000997068" "00001769" "30" "1253" "0" "1253" "0" "c.1253G>A" "r.(?)" "p.?" "" "0001014426" "00001769" "50" "3394" "23" "3394" "23" "c.3394+23G>C" "r.(=)" "p.(=)" "" "0001014427" "00001769" "90" "3062" "0" "3062" "0" "c.3062C>T" "r.(?)" "p.?" "" "0001014428" "00001769" "30" "1779" "0" "1779" "0" "c.1779C>T" "r.(?)" "p.?" "" "0001014429" "00001769" "30" "1077" "0" "1077" "0" "c.1077G>A" "r.(?)" "p.?" "" "0001025494" "00001769" "30" "3443" "0" "3443" "0" "c.3443C>T" "r.(?)" "p.(Ser1148Phe)" "" "0001025495" "00001769" "30" "3143" "0" "3143" "0" "c.3143A>G" "r.(?)" "p.(Lys1048Arg)" "" "0001025496" "00001769" "50" "3055" "5" "3055" "5" "c.3055+5G>A" "r.spl?" "p.?" "" "0001025497" "00001769" "30" "2817" "0" "2817" "0" "c.2817G>A" "r.(?)" "p.(Ala939=)" "" "0001025498" "00001769" "30" "2757" "-23" "2757" "-23" "c.2757-23G>A" "r.(=)" "p.(=)" "" "0001025499" "00001769" "30" "2569" "0" "2574" "0" "c.2569_2574dup" "r.(?)" "p.(Cys857_Thr858dup)" "" "0001025500" "00001769" "30" "2463" "19" "2463" "19" "c.2463+19del" "r.(=)" "p.(=)" "" "0001025501" "00001769" "30" "2200" "29" "2200" "29" "c.2200+29G>C" "r.(=)" "p.(=)" "" "0001025502" "00001769" "30" "1966" "0" "1966" "0" "c.1966C>T" "r.(?)" "p.(Leu656=)" "" "0001025503" "00001769" "10" "1483" "24" "1483" "24" "c.1483+24G>C" "r.(=)" "p.(=)" "" "0001036859" "00001769" "50" "8522" "0" "8522" "0" "c.*4894C>T" "r.(=)" "p.(=)" "" "0001036860" "00001769" "50" "3610" "0" "3612" "0" "c.3610_3612del" "r.?" "p.?" "" "0001036861" "00001769" "50" "3533" "0" "3533" "0" "c.3533G>A" "r.(?)" "p.?" "" "0001036862" "00001769" "50" "3395" "-7" "3395" "-7" "c.3395-7C>T" "r.(=)" "p.(=)" "" "0001036863" "00001769" "50" "3204" "0" "3204" "0" "c.3204C>A" "r.(?)" "p.?" "" "0001036864" "00001769" "50" "3120" "0" "3120" "0" "c.3120C>T" "r.(?)" "p.?" "" "0001036865" "00001769" "30" "3058" "0" "3058" "0" "c.3058G>A" "r.(?)" "p.(Val1020Met)" "" "0001036866" "00001769" "50" "2700" "0" "2700" "0" "c.2700A>G" "r.(?)" "p.?" "" "0001036867" "00001769" "30" "2602" "0" "2602" "0" "c.2602C>G" "r.(?)" "p.?" "" "0001036868" "00001769" "30" "2585" "0" "2585" "0" "c.2585C>T" "r.(?)" "p.(Ser862Leu)" "" "0001036869" "00001769" "90" "2492" "0" "2493" "0" "c.2492_2493del" "r.(?)" "p.(His831ArgfsTer52)" "" "0001036870" "00001769" "50" "2420" "0" "2420" "0" "c.2420G>A" "r.(?)" "p.(Arg807His)" "" "0001036871" "00001769" "50" "2266" "0" "2266" "0" "c.2266G>A" "r.(?)" "p.?" "" "0001036872" "00001769" "50" "2257" "0" "2257" "0" "c.2257C>T" "r.(?)" "p.(Arg753Trp)" "" "0001036873" "00001769" "50" "2174" "0" "2174" "0" "c.2174A>T" "r.(?)" "p.?" "" "0001036874" "00001769" "50" "2149" "0" "2149" "0" "c.2149G>A" "r.(?)" "p.?" "" "0001036875" "00001769" "50" "1940" "0" "1940" "0" "c.1940G>T" "r.(?)" "p.?" "" "0001036876" "00001769" "50" "1918" "0" "1920" "0" "c.1918_1920del" "r.?" "p.?" "" "0001036877" "00001769" "50" "1886" "0" "1886" "0" "c.1886G>A" "r.(?)" "p.?" "" "0001036878" "00001769" "50" "1853" "0" "1853" "0" "c.1853G>A" "r.(?)" "p.(Arg618Gln)" "" "0001036879" "00001769" "50" "1720" "0" "1720" "0" "c.1720G>A" "r.(?)" "p.(Val574Ile)" "" "0001036880" "00001769" "50" "1547" "0" "1547" "0" "c.1547C>T" "r.(?)" "p.?" "" "0001036881" "00001769" "50" "1519" "0" "1519" "0" "c.1519G>A" "r.(?)" "p.?" "" "0001036882" "00001769" "30" "1390" "8" "1390" "8" "c.1390+8G>A" "r.(=)" "p.(=)" "" "0001036883" "00001769" "50" "1215" "0" "1215" "0" "c.1215G>A" "r.(?)" "p.?" "" "0001036884" "00001769" "50" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.?" "" "0001036885" "00001769" "30" "1072" "0" "1072" "0" "c.1072A>G" "r.(?)" "p.?" "" "0001036886" "00001769" "50" "899" "0" "899" "0" "c.899G>T" "r.(?)" "p.?" "" "0001036887" "00001769" "50" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.?" "" "0001036888" "00001769" "50" "29" "0" "29" "0" "c.29G>A" "r.(?)" "p.(Arg10Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 75 "{{screeningid}}" "{{variantid}}" "0000000356" "0000016571" "0000000356" "0000016574" "0000000357" "0000016572" "0000000357" "0000016575" "0000000358" "0000016573" "0000000359" "0000016574" "0000000360" "0000016575" "0000000361" "0000016573" "0000000361" "0000016576" "0000004088" "0000022999" "0000004088" "0000023102" "0000049769" "0000078654" "0000049769" "0000078659" "0000049786" "0000078664" "0000049786" "0000078665" "0000049787" "0000078666" "0000049787" "0000078667" "0000049788" "0000078668" "0000049788" "0000078669" "0000049789" "0000078670" "0000049789" "0000078671" "0000049790" "0000078672" "0000049790" "0000078673" "0000049791" "0000078674" "0000049792" "0000078675" "0000049792" "0000078676" "0000049793" "0000078677" "0000049793" "0000078678" "0000049794" "0000078679" "0000049794" "0000078680" "0000049801" "0000078708" "0000049801" "0000078709" "0000049801" "0000078710" "0000049801" "0000078711" "0000049805" "0000078712" "0000049805" "0000078713" "0000049806" "0000078714" "0000049806" "0000078715" "0000050597" "0000079577" "0000081020" "0000130106" "0000133122" "0000222328" "0000133122" "0000222329" "0000133123" "0000222330" "0000133123" "0000222331" "0000133124" "0000222332" "0000133124" "0000222333" "0000155355" "0000355075" "0000155357" "0000355079" "0000155358" "0000355080" "0000155359" "0000355081" "0000247674" "0000500524" "0000295764" "0000652453" "0000295765" "0000652454" "0000295766" "0000652455" "0000295767" "0000652456" "0000295768" "0000652457" "0000295769" "0000652458" "0000296755" "0000653462" "0000297676" "0000660285" "0000306314" "0000670002" "0000386761" "0000814441" "0000400486" "0000833387" "0000400486" "0000833388" "0000408238" "0000845115" "0000415808" "0000873699" "0000415809" "0000876917" "0000415810" "0000876918" "0000415811" "0000876919" "0000415812" "0000873703" "0000415817" "0000873712" "0000415818" "0000873713" "0000431768" "0000917054" "0000434577" "0000920329" "0000434577" "0000920368" "0000445213" "0000952115"