### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = POT1) # 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}}" "POT1" "protection of telomeres 1" "7" "q31.33" "unknown" "NG_029232.1" "UD_132118603543" "" "http://www.LOVD.nl/POT1" "" "1" "17284" "25913" "606478" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/POT1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-10-14 17:07:33" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00016554" "POT1" "protection of telomeres 1 homolog (S. pombe), transcript variant 4" "001" "NM_001042594.1" "" "NP_001036059.1" "" "" "" "-863" "3088" "1512" "124570037" "124462440" "" "0000-00-00 00:00:00" "" "" "00024185" "POT1" "transcript variant 1" "003" "NM_015450.2" "" "NP_056265.2" "" "" "" "-601" "3481" "1905" "124570037" "124462440" "00006" "2016-10-14 17:05:48" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00115" "CRMCC" "microangiopathy, cerebroretinal, with calcifications and cysts (CRMCC, Coats plus syndrome)" "AR" "612199" "" "" "" "00001" "2013-03-08 10:55:44" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01415" "LFS" "Li-Fraumeni syndrome (LFS)" "AD" "151623" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04104" "CMM10" "melanoma, cutaneous, malignant, susceptibility to, type 10 (CMM-10)" "AD" "615848" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05087" "STS" "sarcoma, soft tissue (STS)" "" "" "" "" "" "00006" "2015-10-23 12:08:53" "" "" "05291" "GLM9" "glioma, susceptibility to, type 9 (GLM-9)" "AD" "616568" "" "" "" "00006" "2017-06-24 12:48:03" "00006" "2021-12-10 21:51:32" "05295" "angiosarcoma" "angiosarcoma" "" "" "" "" "" "00006" "2017-06-26 12:47:46" "" "" "05464" "HNPCC (Lynch)" "cancer, colorectal, nonpolyposis, hereditary (Lynch syndrome)" "" "" "" "" "" "00006" "2018-08-02 08:56:34" "00006" "2025-07-24 09:00:47" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "POT1" "04104" "POT1" "05291" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00050581" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00081459" "" "" "" "2" "" "00015" "{PMID:Takai 2016:27013236}" "2-geenration family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "" "00105406" "" "" "" "1" "" "02117" "" "" "-" "no" "Spain" "" "0" "" "" "" "15S661" "00105407" "" "" "" "1" "" "02117" "" "" "-" "no" "France" "" "0" "" "" "" "G6" "00105409" "" "" "" "1" "" "02117" "" "" "?" "no" "Germany" "" "0" "" "" "" "ASC4" "00105410" "" "" "" "1" "" "02117" "" "" "" "" "Spain" "" "0" "" "" "" "14T187" "00105411" "" "" "" "1" "" "02117" "" "" "?" "no" "Spain" "" "0" "" "" "" "14T189" "00249425" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00276123" "" "" "" "1" "" "03308" "" "" "?" "no" "Spain" "" "0" "" "" "European Non-Finish" "" "00294314" "" "" "" "57" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305130" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00379341" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "182182" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00050581" "00198" "00081459" "00115" "00105406" "01415" "00105407" "01415" "00105409" "05295" "00105410" "05087" "00105411" "05087" "00276123" "05464" "00294314" "00198" "00305130" "00198" "00379341" "04104" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00115, 00198, 01415, 04104, 05087, 05291, 05295, 05464 ## Count = 9 "{{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}}" "0000037193" "00198" "00050581" "00006" "Isolated (sporadic)" "" "patent ductus arteriosus, midline central nervous system lipomas, global developmental delay, abnormality of the sclera, short philtrum" "" "" "" "" "" "" "" "" "" "" "" "0000061061" "00115" "00081459" "00006" "Familial, autosomal recessive" "" "intrauterine growth retardation, intracranial calcification in a\r\ndistribution typical of CP, leukoencephalopathy, retinal exudates typical of CP; sparse hair (1), 3y-fractures (1), 3y-GI ectasias (1)" "" "" "" "" "" "" "" "" "" "" "" "0000083804" "05295" "00105409" "02117" "Unknown" "" "sporadic cardiac angiosarcoma" "" "" "" "" "" "" "" "" "" "" "" "0000083944" "01415" "00105406" "02117" "Unknown" "" "Li-fraumeni syndrome, cardiac angiosarcoma" "" "" "" "" "" "" "" "" "" "" "" "0000083945" "01415" "00105407" "02117" "Familial, autosomal dominant" "" "Li-fraumeni syndrome, billateral breast angiosarcoma" "" "" "" "" "" "" "" "" "" "" "" "0000083946" "05087" "00105410" "02117" "-" "" "sporadic cardiac sarcoma" "" "" "" "" "" "" "" "" "" "" "" "0000083947" "05087" "00105411" "02117" "-" "" "sporadic cardiac sarcoma" "" "" "" "" "" "" "" "" "" "" "" "0000210710" "05464" "00276123" "03308" "Unknown" "" "Colorectal cancer (28y)" "" "28y" "" "" "MSS" "" "" "" "" "" "" "0000273215" "04104" "00379341" "01164" "Familial, autosomal dominant" "54y" "Patient with 2 malignant melanomas and > 20 basal cell carcinomas, son 19 yrs with malignant melanoma, sister 40 yrs uterine carcinoma, mother breast carcinoma at 55 yrs, father colon carcinoma at 66 yrs, uncle ms malignant melanoma at 37 yrs, son of uncle colon carcinoma at 49 yrs." "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050526" "00050581" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000081554" "00081459" "1" "00015" "00015" "2016-10-13 13:41:23" "" "" "SEQ" "DNA" "" "" "0000105878" "00105406" "1" "02117" "02117" "2017-06-23 12:46:06" "02117" "2017-06-23 14:42:40" "PCR" "DNA" "" "" "0000105879" "00105407" "1" "02117" "02117" "2017-06-23 14:49:11" "" "" "PCR" "DNA" "blood" "" "0000105880" "00105409" "1" "02117" "02117" "2017-06-23 16:06:06" "" "" "PCR" "DNA" "Normal cardiac" "" "0000105881" "00105410" "1" "02117" "02117" "2017-06-23 16:20:55" "" "" "PCR" "DNA" "Normal cardiac tissue" "" "0000105882" "00105411" "1" "02117" "02117" "2017-06-23 16:33:04" "" "" "PCR" "DNA" "Normal cardiac tissue" "" "0000250533" "00249425" "1" "01164" "01164" "2019-07-31 15:28:32" "" "" "SEQ-NG-S" "DNA" "" "" "0000277268" "00276123" "1" "03308" "03308" "2020-01-28 10:50:26" "" "" "PCR" "DNA" "blood" "" "0000295482" "00294314" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306259" "00305130" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000380541" "00379341" "1" "01164" "01164" "2021-08-04 15:24:03" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000081554" "POT1" "0000105878" "POT1" "0000105879" "POT1" "0000105880" "POT1" "0000105881" "POT1" "0000105882" "POT1" "0000277268" "POT1" "0000380541" "POT1" ## 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 = 99 "{{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}}" "0000079506" "0" "90" "7" "121000064" "135573959" "del" "0" "00006" "IMPDH1_000003" "g.121000064_135573959del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000132211" "3" "90" "7" "124487037" "124487037" "subst" "0" "00015" "POT1_000001" "g.124487037G>A" "" "{PMID:Takai 2016:27013236}" "" "" "" "Germline" "yes" "" "0" "" "" "g.124846983G>A" "" "pathogenic" "" "0000171456" "0" "70" "7" "124491974" "124491974" "subst" "0" "02117" "POT1_000002" "g.124491974G>A" "" "" "" "1560C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.124851920G>A" "" "likely pathogenic" "" "0000171457" "0" "70" "7" "124475348" "124475348" "subst" "4.06517E-6" "02117" "POT1_000006" "g.124475348G>T" "" "" "" "124475347G>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.124835294G>T" "" "likely pathogenic" "" "0000171458" "0" "70" "7" "124503603" "124503603" "subst" "0" "02117" "POT1_000005" "g.124503603G>A" "" "" "" "946C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.124863549G>A" "" "likely pathogenic" "" "0000171459" "0" "70" "7" "124503601" "124503601" "subst" "4.06775E-6" "02117" "POT1_000004" "g.124503601G>A" "" "" "" "948C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.124863547G>A" "" "likely pathogenic" "" "0000171460" "0" "70" "7" "124503403" "124503403" "subst" "0" "02117" "POT1_000003" "g.124503403C>T" "" "" "" "1145-1G>A" "" "Germline/De novo (untested)" "-" "" "0" "" "" "g.124863349C>T" "" "likely pathogenic" "" "0000249105" "0" "10" "7" "124499002" "124499002" "subst" "0.582809" "02325" "POT1_000015" "g.124499002A>C" "" "" "" "POT1(NM_015450.3):c.702+9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124858948A>C" "" "benign" "" "0000255243" "0" "30" "7" "124538446" "124538446" "del" "0" "01943" "POT1_000020" "g.124538446del" "" "" "" "POT1(NM_015450.2):c.-153-9delT, POT1(NM_015450.3):c.-153-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124898392del" "" "likely benign" "" "0000297278" "0" "10" "7" "124486980" "124486980" "subst" "0.692895" "02325" "POT1_000012" "g.124486980T>C" "" "" "" "POT1(NM_015450.3):c.1006+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124846926T>C" "" "benign" "" "0000297280" "0" "10" "7" "124475325" "124475329" "del" "0" "02325" "POT1_000009" "g.124475325_124475329del" "" "" "" "POT1(NM_015450.3):c.1505+32_1505+36delTGTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124835271_124835275del" "" "benign" "" "0000297281" "0" "50" "7" "124532385" "124532385" "subst" "0" "02325" "POT1_000019" "g.124532385C>T" "" "" "" "POT1(NM_015450.3):c.59G>A (p.G20D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124892331C>T" "" "VUS" "" "0000297282" "0" "10" "7" "124499003" "124499003" "subst" "0.582405" "02325" "POT1_000016" "g.124499003T>A" "" "" "" "POT1(NM_015450.3):c.702+8A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124858949T>A" "" "benign" "" "0000299061" "0" "10" "7" "124481185" "124481185" "subst" "0.0135679" "02329" "POT1_000011" "g.124481185C>A" "" "" "" "POT1(NM_001042594.1):c.818G>T (p.(Gly273Val)), POT1(NM_015450.3):c.1211G>T (p.G404V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124841131C>A" "" "benign" "" "0000299062" "0" "10" "7" "124464037" "124464037" "subst" "0.00782852" "02329" "POT1_000007" "g.124464037T>G" "" "" "" "POT1(NM_015450.3):c.1884A>C (p.T628=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124823983T>G" "" "benign" "" "0000299063" "0" "30" "7" "124503610" "124503610" "subst" "0.000150545" "02329" "POT1_000017" "g.124503610T>C" "" "" "" "POT1(NM_001042594.1):c.-54A>G (p.(=)), POT1(NM_015450.3):c.340A>G (p.I114V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124863556T>C" "" "likely benign" "" "0000299064" "0" "10" "7" "124491951" "124491951" "subst" "0.00618373" "02329" "POT1_000013" "g.124491951T>C" "" "" "" "POT1(NM_015450.3):c.924A>G (p.Q308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124851897T>C" "" "benign" "" "0000301146" "0" "30" "7" "124491972" "124491972" "subst" "0.00277861" "02326" "POT1_000014" "g.124491972C>A" "" "" "" "POT1(NM_001042594.1):c.510G>T (p.(Gln170His)), POT1(NM_015450.2):c.903G>T (p.Q301H), POT1(NM_015450.3):c.903G>T (p.Q301H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124851918C>A" "" "likely benign" "" "0000306215" "0" "30" "7" "124464124" "124464124" "subst" "1.30944E-5" "01943" "POT1_000008" "g.124464124T>C" "" "" "" "POT1(NM_015450.2):c.1797A>G (p.A599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124824070T>C" "" "likely benign" "" "0000306216" "0" "30" "7" "124532380" "124532380" "subst" "0.000166755" "01943" "POT1_000018" "g.124532380T>C" "" "" "" "POT1(NM_015450.2):c.64A>G (p.I22V), POT1(NM_015450.3):c.64A>G (p.I22V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124892326T>C" "" "likely benign" "" "0000306217" "0" "30" "7" "124491972" "124491972" "subst" "0.00277861" "01943" "POT1_000014" "g.124491972C>A" "" "" "" "POT1(NM_001042594.1):c.510G>T (p.(Gln170His)), POT1(NM_015450.2):c.903G>T (p.Q301H), POT1(NM_015450.3):c.903G>T (p.Q301H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124851918C>A" "" "likely benign" "" "0000530599" "0" "50" "7" "124465337" "124465337" "subst" "0" "01804" "POT1_000021" "g.124465337C>A" "" "" "" "POT1(NM_001042594.1):c.1368G>T (p.(Met456Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124825283C>A" "" "VUS" "" "0000530600" "0" "90" "7" "124469393" "124469396" "del" "0" "02329" "POT1_000022" "g.124469393_124469396del" "" "" "" "POT1(NM_015450.3):c.1507_1510delTGTA (p.C503Nfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124829339_124829342del" "" "pathogenic" "" "0000530601" "0" "10" "7" "124475325" "124475329" "dup" "0" "02325" "POT1_000023" "g.124475325_124475329dup" "" "" "" "POT1(NM_001042594.1):c.1112+32_1112+36dup (p.(=)), POT1(NM_015450.3):c.1505+29_1505+33dupTTTTG, POT1(NM_015450.3):c.1505+32_1505+36dupTGTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124835271_124835275dup" "" "benign" "" "0000530602" "0" "10" "7" "124481185" "124481185" "subst" "0.0135679" "01804" "POT1_000011" "g.124481185C>A" "" "" "" "POT1(NM_001042594.1):c.818G>T (p.(Gly273Val)), POT1(NM_015450.3):c.1211G>T (p.G404V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124841131C>A" "" "benign" "" "0000530604" "0" "30" "7" "124491972" "124491972" "subst" "0.00277861" "01804" "POT1_000014" "g.124491972C>A" "" "" "" "POT1(NM_001042594.1):c.510G>T (p.(Gln170His)), POT1(NM_015450.2):c.903G>T (p.Q301H), POT1(NM_015450.3):c.903G>T (p.Q301H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124851918C>A" "" "likely benign" "" "0000530605" "0" "30" "7" "124493124" "124493124" "subst" "6.51593E-5" "01943" "POT1_000025" "g.124493124T>A" "" "" "" "POT1(NM_015450.2):c.771A>T (p.T257=), POT1(NM_015450.3):c.771A>T (p.T257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124853070T>A" "" "likely benign" "" "0000530606" "0" "30" "7" "124503610" "124503610" "subst" "0.000150545" "01804" "POT1_000017" "g.124503610T>C" "" "" "" "POT1(NM_001042594.1):c.-54A>G (p.(=)), POT1(NM_015450.3):c.340A>G (p.I114V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124863556T>C" "" "likely benign" "" "0000530608" "0" "30" "7" "124537284" "124537287" "del" "0" "02326" "POT1_000027" "g.124537284_124537287del" "" "" "" "POT1(NM_015450.3):c.-39-15_-39-12delCTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124897230_124897233del" "" "likely benign" "" "0000579832" "0" "50" "7" "124532340" "124532340" "subst" "0" "01164" "POT1_000028" "g.124532340G>A" "" "" "" "" "ACMG grading: PP3, PM2" "Germline" "" "" "0" "" "" "g.124892286G>A" "" "VUS" "ACMG" "0000610657" "0" "50" "7" "124482953" "124482953" "dup" "0" "02327" "POT1_000031" "g.124482953dup" "" "" "" "POT1(NM_015450.3):c.1071dup (p.Gln358SerfsTer13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124842899dup" "" "VUS" "" "0000621815" "0" "10" "7" "124465416" "124465416" "subst" "0.00184807" "02329" "POT1_000029" "g.124465416A>T" "" "" "" "POT1(NM_015450.3):c.1687-5T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124825362A>T" "" "benign" "" "0000621816" "0" "50" "7" "124482897" "124482897" "subst" "0.000439641" "02325" "POT1_000030" "g.124482897T>C" "" "" "" "POT1(NM_001042594.1):c.734A>G (p.(Gln245Arg)), POT1(NM_015450.2):c.1127A>G (p.Q376R), POT1(NM_015450.3):c.1127A>G (p.Q376R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124842843T>C" "" "VUS" "" "0000632035" "0" "50" "7" "124482897" "124482897" "subst" "0.000439641" "03308" "POT1_000030" "g.124482897T>C" "" "" "" "" "VUS (PathoMan)" "Germline" "?" "rs143635917" "0" "" "" "g.124842843T>C" "" "VUS" "" "0000652171" "1" "10" "7" "124481185" "124481185" "subst" "0.0135679" "03575" "POT1_000011" "g.124481185C>A" "57/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "57 heterozygous; {DB:CLININrs35536751}" "Germline" "" "rs35536751" "0" "" "" "g.124841131C>A" "" "benign" "" "0000655729" "0" "30" "7" "124481168" "124481168" "subst" "0.000516785" "01943" "POT1_000032" "g.124481168C>G" "" "" "" "POT1(NM_015450.2):c.1228G>C (p.D410H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124841114C>G" "" "likely benign" "" "0000655730" "0" "30" "7" "124491938" "124491938" "subst" "4.0664E-6" "02326" "POT1_000024" "g.124491938C>T" "" "" "" "POT1(NM_015450.3):c.937G>A (p.D313N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124851884C>T" "" "likely benign" "" "0000655731" "0" "90" "7" "124493082" "124493082" "subst" "0" "01943" "POT1_000033" "g.124493082G>T" "" "" "" "POT1(NM_015450.2):c.813C>A (p.Y271*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124853028G>T" "" "pathogenic" "" "0000669947" "3" "10" "7" "124481185" "124481185" "subst" "0.0135679" "03575" "POT1_000011" "g.124481185C>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs35536751}" "Germline" "" "rs35536751" "0" "" "" "g.124841131C>A" "" "benign" "" "0000677946" "0" "30" "7" "124491959" "124491959" "subst" "8.13087E-6" "01943" "POT1_000034" "g.124491959T>C" "" "" "" "POT1(NM_015450.2):c.916A>G (p.I306V), POT1(NM_015450.3):c.916A>G (p.I306V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677947" "0" "30" "7" "124491959" "124491959" "subst" "8.13087E-6" "02326" "POT1_000034" "g.124491959T>C" "" "" "" "POT1(NM_015450.2):c.916A>G (p.I306V), POT1(NM_015450.3):c.916A>G (p.I306V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689895" "0" "70" "7" "124493092" "124493092" "subst" "0" "02327" "POT1_000035" "g.124493092C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000689896" "0" "30" "7" "124532380" "124532380" "subst" "0.000166755" "02326" "POT1_000018" "g.124532380T>C" "" "" "" "POT1(NM_015450.2):c.64A>G (p.I22V), POT1(NM_015450.3):c.64A>G (p.I22V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721210" "0" "70" "7" "124510964" "124510964" "subst" "0" "02327" "POT1_000036" "g.124510964C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000793684" "0" "50" "7" "124491937" "124491937" "subst" "0" "01164" "POT1_000037" "g.124491937T>A" "" "" "" "" "ACMG: PM2_SUP, BP4" "Germline" "?" "" "" "" "" "" "VCV000664586.5" "VUS" "ACMG" "0000802885" "0" "10" "7" "124475325" "124475329" "del" "0" "02369" "POT1_000009" "g.124475325_124475329del" "" "" "" "POT1(NM_015450.3):c.1505+32_1505+36delTGTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802886" "0" "10" "7" "124475325" "124475329" "dup" "0" "02369" "POT1_000023" "g.124475325_124475329dup" "" "" "" "POT1(NM_001042594.1):c.1112+32_1112+36dup (p.(=)), POT1(NM_015450.3):c.1505+29_1505+33dupTTTTG, POT1(NM_015450.3):c.1505+32_1505+36dupTGTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802887" "0" "50" "7" "124475422" "124475422" "subst" "9.34253E-5" "02325" "POT1_000038" "g.124475422A>C" "" "" "" "POT1(NM_015450.3):c.1416T>G (p.S472R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802888" "0" "50" "7" "124482897" "124482897" "subst" "0.000439641" "01943" "POT1_000030" "g.124482897T>C" "" "" "" "POT1(NM_001042594.1):c.734A>G (p.(Gln245Arg)), POT1(NM_015450.2):c.1127A>G (p.Q376R), POT1(NM_015450.3):c.1127A>G (p.Q376R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802889" "0" "30" "7" "124483025" "124483025" "subst" "0" "01943" "POT1_000039" "g.124483025G>A" "" "" "" "POT1(NM_015450.2):c.1007-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802890" "0" "10" "7" "124499002" "124499003" "delins" "0" "02369" "POT1_000040" "g.124499002_124499003delinsCA" "" "" "" "POT1(NM_015450.3):c.702+8_702+9delATinsTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851395" "0" "30" "7" "124538446" "124538446" "del" "0" "02326" "POT1_000020" "g.124538446del" "" "" "" "POT1(NM_015450.2):c.-153-9delT, POT1(NM_015450.3):c.-153-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860606" "0" "50" "7" "124503669" "124503669" "subst" "0" "01804" "POT1_000041" "g.124503669T>C" "" "" "" "POT1(NM_001042594.1):c.-113A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000877069" "0" "10" "7" "124491951" "124491951" "subst" "0.00618373" "03779" "POT1_000013" "g.124491951T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs34398311" "0" "" "" "" "" "benign" "" "0000887576" "0" "50" "7" "124482936" "124482936" "subst" "2.05138E-5" "02325" "POT1_000042" "g.124482936C>T" "" "" "" "POT1(NM_015450.3):c.1088G>A (p.R363Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887577" "0" "70" "7" "124493077" "124493077" "subst" "0" "02327" "POT1_000043" "g.124493077C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887578" "0" "50" "7" "124511096" "124511096" "subst" "0" "02326" "POT1_000044" "g.124511096C>A" "" "" "" "POT1(NM_015450.3):c.125-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912635" "0" "50" "7" "124464129" "124464129" "subst" "0" "02329" "POT1_000045" "g.124464129C>G" "" "" "" "POT1(NM_015450.3):c.1793-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912636" "0" "10" "7" "124465416" "124465416" "subst" "0.00184807" "02326" "POT1_000029" "g.124465416A>T" "" "" "" "POT1(NM_015450.3):c.1687-5T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927816" "0" "50" "7" "124503603" "124503603" "subst" "0" "03779" "POT1_000005" "g.124503603G>A" "" "" "" "" "" "Unknown" "" "rs1554426966" "0" "" "" "" "" "VUS" "" "0000929274" "0" "90" "7" "124503656" "124503663" "del" "0" "02329" "POT1_000046" "g.124503656_124503663del" "" "" "" "POT1(NM_015450.3):c.289_296delACCAGCTC (p.T97Wfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948816" "0" "30" "7" "124475325" "124475329" "dup" "0" "01804" "POT1_000023" "g.124475325_124475329dup" "" "" "" "POT1(NM_001042594.1):c.1112+32_1112+36dup (p.(=)), POT1(NM_015450.3):c.1505+29_1505+33dupTTTTG, POT1(NM_015450.3):c.1505+32_1505+36dupTGTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948817" "0" "30" "7" "124493124" "124493124" "subst" "6.51593E-5" "02326" "POT1_000025" "g.124493124T>A" "" "" "" "POT1(NM_015450.2):c.771A>T (p.T257=), POT1(NM_015450.3):c.771A>T (p.T257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948818" "0" "50" "7" "124493127" "124493127" "subst" "1.62849E-5" "01804" "POT1_000047" "g.124493127C>G" "" "" "" "POT1(NM_001042594.1):c.375G>C (p.(Gln125His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948819" "0" "30" "7" "124499052" "124499052" "subst" "0" "01804" "POT1_000048" "g.124499052A>G" "" "" "" "POT1(NM_015450.2):c.661T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948820" "0" "30" "7" "124537283" "124537283" "subst" "0" "01804" "POT1_000049" "g.124537283A>G" "" "" "" "POT1(NM_001042594.1):c.-301-17T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964401" "0" "50" "7" "124464092" "124464092" "subst" "0" "01804" "POT1_000050" "g.124464092T>C" "" "" "" "POT1(NM_015450.2):c.1829A>G (p.(Tyr610Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964402" "0" "30" "7" "124518170" "124518170" "subst" "0" "01804" "POT1_000051" "g.124518170T>A" "" "" "" "POT1(NM_001042594.1):c.-139+14150delinsT (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964403" "0" "30" "7" "124561077" "124561077" "subst" "0" "01804" "POT1_000052" "g.124561077G>C" "" "" "" "POT1(NM_015450.2):c.-226-5377C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977505" "0" "30" "7" "124491972" "124491972" "subst" "0.00277861" "02329" "POT1_000014" "g.124491972C>A" "" "" "" "POT1(NM_001042594.1):c.510G>T (p.(Gln170His)), POT1(NM_015450.2):c.903G>T (p.Q301H), POT1(NM_015450.3):c.903G>T (p.Q301H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977506" "0" "30" "7" "124517908" "124517923" "del" "0" "01804" "POT1_000053" "g.124517908_124517923del" "" "" "" "POT1(NM_001042594.1):c.-138-14216_-138-14201del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996164" "0" "30" "7" "124465356" "124465356" "subst" "2.04023E-5" "01804" "POT1_000054" "g.124465356T>C" "" "" "" "POT1(NM_015450.2):c.1742A>G (p.(Lys581Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996165" "0" "30" "7" "124469439" "124469439" "subst" "0.00104254" "02369" "POT1_000055" "g.124469439T>C" "" "" "" "POT1(NM_015450.3):c.1506-43A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996166" "0" "30" "7" "124481183" "124481183" "subst" "8.14365E-6" "01804" "POT1_000056" "g.124481183C>T" "" "" "" "POT1(NM_015450.2):c.1213G>A (p.(Ala405Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996167" "0" "50" "7" "124482897" "124482897" "subst" "0.000439641" "01804" "POT1_000030" "g.124482897T>C" "" "" "" "POT1(NM_001042594.1):c.734A>G (p.(Gln245Arg)), POT1(NM_015450.2):c.1127A>G (p.Q376R), POT1(NM_015450.3):c.1127A>G (p.Q376R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996168" "0" "30" "7" "124491986" "124491986" "subst" "4.06818E-6" "01804" "POT1_000057" "g.124491986A>C" "" "" "" "POT1(NM_015450.2):c.889T>G (p.(Leu297Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996169" "0" "30" "7" "124503387" "124503387" "subst" "3.88031E-5" "01804" "POT1_000058" "g.124503387T>G" "" "" "" "POT1(NM_001042594.1):c.153+17A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996170" "0" "30" "7" "124532374" "124532374" "subst" "1.06805E-5" "01804" "POT1_000059" "g.124532374T>C" "" "" "" "POT1(NM_015450.2):c.70A>G (p.(Asn24Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001008522" "0" "50" "7" "124481029" "124481029" "subst" "4.09142E-6" "03779" "POT1_000060" "g.124481029T>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs771226403" "0" "" "" "" "" "VUS" "" "0001014268" "0" "10" "7" "124465509" "124465509" "subst" "0" "02369" "POT1_000061" "g.124465509A>C" "" "" "" "POT1(NM_015450.3):c.1687-98T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014269" "0" "10" "7" "124469267" "124469267" "subst" "0.414578" "02369" "POT1_000062" "g.124469267A>T" "" "" "" "POT1(NM_015450.3):c.1594+41T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014270" "0" "10" "7" "124480869" "124480869" "subst" "0" "02369" "POT1_000063" "g.124480869T>C" "" "" "" "POT1(NM_015450.3):c.1369+158A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014271" "0" "10" "7" "124481245" "124481245" "subst" "0.414269" "02369" "POT1_000064" "g.124481245G>A" "" "" "" "POT1(NM_015450.3):c.1164-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014272" "0" "10" "7" "124481403" "124481403" "subst" "0" "02369" "POT1_000065" "g.124481403T>A" "" "" "" "POT1(NM_015450.3):c.1164-171A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014273" "0" "10" "7" "124481420" "124481420" "subst" "0" "02369" "POT1_000066" "g.124481420T>A" "" "" "" "POT1(NM_015450.3):c.1164-188A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014274" "0" "10" "7" "124486980" "124486980" "subst" "0.692895" "02369" "POT1_000012" "g.124486980T>C" "" "" "" "POT1(NM_015450.3):c.1006+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014275" "0" "10" "7" "124492038" "124492038" "subst" "0.32361" "02369" "POT1_000067" "g.124492038T>C" "" "" "" "POT1(NM_015450.3):c.870-33A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014276" "0" "50" "7" "124493170" "124493170" "subst" "0" "01804" "POT1_000068" "g.124493170T>C" "" "" "" "POT1(NM_015450.2):c.725A>G (p.(Tyr242Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029388" "0" "90" "7" "124503601" "124503601" "subst" "4.06775E-6" "03779" "POT1_000004" "g.124503601G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs780936436" "0" "" "" "" "" "pathogenic" "" "0001030853" "0" "70" "7" "124532358" "124532358" "subst" "0" "03779" "POT1_000069" "g.124532358A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001046097" "0" "30" "7" "124532380" "124532380" "subst" "0.000166755" "02327" "POT1_000018" "g.124532380T>C" "" "" "" "POT1(NM_015450.2):c.64A>G (p.I22V), POT1(NM_015450.3):c.64A>G (p.I22V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052824" "0" "10" "7" "124465256" "124465256" "subst" "0.010145" "02369" "POT1_000070" "g.124465256T>C" "" "" "" "POT1(NM_015450.3):c.1792+50A>G (None)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001052825" "0" "70" "7" "124482953" "124482953" "dup" "0" "02369" "POT1_000031" "g.124482953dup" "" "" "" "POT1(NM_015450.3):c.1071dup (p.Gln358SerfsTer13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001052826" "0" "30" "7" "124493336" "124493336" "subst" "0" "02369" "POT1_000071" "g.124493336C>T" "" "" "" "POT1(NM_015450.3):c.703-144G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052827" "0" "30" "7" "124569916" "124569916" "subst" "0" "01804" "POT1_000072" "g.124569916G>A" "" "" "" "POT1(NM_001042594.1):c.-742C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001061190" "0" "70" "7" "124487054" "124487054" "subst" "0" "03779" "POT1_000073" "g.124487054T>C" "" "" "" "" "" "Unknown" "" "rs2485418749" "0" "" "" "" "" "likely pathogenic" "" "0001064815" "0" "10" "7" "124481185" "124481185" "subst" "0.0135679" "02327" "POT1_000011" "g.124481185C>A" "" "" "" "POT1(NM_001042594.1):c.818G>T (p.(Gly273Val)), POT1(NM_015450.3):c.1211G>T (p.G404V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001064816" "0" "50" "7" "124482968" "124482968" "subst" "0" "01804" "POT1_000074" "g.124482968C>G" "" "" "" "POT1(NM_015450.2):c.1056G>C (p.(Leu352Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064817" "0" "30" "7" "124499002" "124499003" "delins" "0" "02327" "POT1_000040" "g.124499002_124499003delinsCA" "" "" "" "POT1(NM_015450.3):c.702+8_702+9delATinsTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes POT1 ## Count = 183 "{{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}}" "0000079506" "00024185" "00" "-8388608" "0" "3465857" "0" "c.-11004523_*3463952del" "r.0?" "p.0?" "" "0000079506" "00016554" "00" "-8388608" "0" "3465464" "0" "c.-11004785_*3463952del" "r.0?" "p.0?" "" "0000132211" "00024185" "90" "965" "0" "965" "0" "c.965C>T" "r.(965c>u)" "p.(Ser322Leu)" "12" "0000171456" "00024185" "70" "901" "0" "901" "0" "c.901C>T" "r.(?)" "p.(Gln301*)" "11" "0000171457" "00024185" "70" "1490" "0" "1490" "0" "c.1490C>A" "r.(?)" "p.(Thr497Lys)" "15" "0000171458" "00024185" "70" "347" "0" "347" "0" "c.347C>T" "r.(?)" "p.(Pro116Leu)" "8" "0000171459" "00024185" "70" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Cys)" "8" "0000171460" "00024185" "70" "546" "1" "546" "1" "c.546+1G>A" "r.spl" "p.?" "8i" "0000249105" "00024185" "10" "702" "9" "702" "9" "c.702+9T>G" "r.(=)" "p.(=)" "" "0000249105" "00016554" "10" "309" "9" "309" "9" "c.309+9T>G" "r.(=)" "p.(=)" "" "0000255243" "00024185" "30" "-153" "-9" "-153" "-9" "c.-153-9del" "r.(=)" "p.(=)" "" "0000255243" "00016554" "30" "-415" "-9" "-415" "-9" "c.-415-9del" "r.(=)" "p.(=)" "" "0000297278" "00024185" "10" "1006" "16" "1006" "16" "c.1006+16A>G" "r.(=)" "p.(=)" "" "0000297278" "00016554" "10" "613" "16" "613" "16" "c.613+16A>G" "r.(=)" "p.(=)" "" "0000297280" "00024185" "10" "1505" "32" "1505" "36" "c.1505+32_1505+36del" "r.(=)" "p.(=)" "" "0000297280" "00016554" "10" "1112" "32" "1112" "36" "c.1112+32_1112+36del" "r.(=)" "p.(=)" "" "0000297281" "00024185" "50" "59" "0" "59" "0" "c.59G>A" "r.(?)" "p.(Gly20Asp)" "" "0000297281" "00016554" "50" "-204" "0" "-204" "0" "c.-204G>A" "r.(?)" "p.(=)" "" "0000297282" "00024185" "10" "702" "8" "702" "8" "c.702+8A>T" "r.(=)" "p.(=)" "" "0000297282" "00016554" "10" "309" "8" "309" "8" "c.309+8A>T" "r.(=)" "p.(=)" "" "0000299061" "00024185" "10" "1211" "0" "1211" "0" "c.1211G>T" "r.(?)" "p.(Gly404Val)" "" "0000299061" "00016554" "10" "818" "0" "818" "0" "c.818G>T" "r.(?)" "p.(Gly273Val)" "" "0000299062" "00024185" "10" "1884" "0" "1884" "0" "c.1884A>C" "r.(?)" "p.(Thr628=)" "" "0000299062" "00016554" "10" "1491" "0" "1491" "0" "c.1491A>C" "r.(?)" "p.(Thr497=)" "" "0000299063" "00024185" "30" "340" "0" "340" "0" "c.340A>G" "r.(?)" "p.(Ile114Val)" "" "0000299063" "00016554" "30" "-54" "0" "-54" "0" "c.-54A>G" "r.(?)" "p.(=)" "" "0000299064" "00024185" "10" "924" "0" "924" "0" "c.924A>G" "r.(?)" "p.(Gln308=)" "" "0000299064" "00016554" "10" "531" "0" "531" "0" "c.531A>G" "r.(?)" "p.(Gln177=)" "" "0000301146" "00024185" "30" "903" "0" "903" "0" "c.903G>T" "r.(?)" "p.(Gln301His)" "" "0000301146" "00016554" "30" "510" "0" "510" "0" "c.510G>T" "r.(?)" "p.(Gln170His)" "" "0000306215" "00024185" "30" "1797" "0" "1797" "0" "c.1797A>G" "r.(?)" "p.(Ala599=)" "" "0000306215" "00016554" "30" "1404" "0" "1404" "0" "c.1404A>G" "r.(?)" "p.(Ala468=)" "" "0000306216" "00024185" "30" "64" "0" "64" "0" "c.64A>G" "r.(?)" "p.(Ile22Val)" "" "0000306216" "00016554" "30" "-199" "0" "-199" "0" "c.-199A>G" "r.(?)" "p.(=)" "" "0000306217" "00024185" "30" "903" "0" "903" "0" "c.903G>T" "r.(?)" "p.(Gln301His)" "" "0000306217" "00016554" "30" "510" "0" "510" "0" "c.510G>T" "r.(?)" "p.(Gln170His)" "" "0000530599" "00024185" "50" "1761" "0" "1761" "0" "c.1761G>T" "r.(?)" "p.(Met587Ile)" "" "0000530599" "00016554" "50" "1368" "0" "1368" "0" "c.1368G>T" "r.(?)" "p.(Met456Ile)" "" "0000530600" "00024185" "90" "1507" "0" "1510" "0" "c.1507_1510del" "r.(?)" "p.(Cys503AsnfsTer6)" "" "0000530600" "00016554" "90" "1114" "0" "1117" "0" "c.1114_1117del" "r.(?)" "p.(Cys372AsnfsTer6)" "" "0000530601" "00024185" "10" "1505" "32" "1505" "36" "c.1505+32_1505+36dup" "r.(=)" "p.(=)" "" "0000530601" "00016554" "10" "1112" "32" "1112" "36" "c.1112+32_1112+36dup" "r.(=)" "p.(=)" "" "0000530602" "00024185" "10" "1211" "0" "1211" "0" "c.1211G>T" "r.(?)" "p.(Gly404Val)" "" "0000530602" "00016554" "10" "818" "0" "818" "0" "c.818G>T" "r.(?)" "p.(Gly273Val)" "" "0000530604" "00024185" "30" "903" "0" "903" "0" "c.903G>T" "r.(?)" "p.(Gln301His)" "" "0000530604" "00016554" "30" "510" "0" "510" "0" "c.510G>T" "r.(?)" "p.(Gln170His)" "" "0000530605" "00024185" "30" "771" "0" "771" "0" "c.771A>T" "r.(?)" "p.(Thr257=)" "" "0000530605" "00016554" "30" "378" "0" "378" "0" "c.378A>T" "r.(?)" "p.(Thr126=)" "" "0000530606" "00024185" "30" "340" "0" "340" "0" "c.340A>G" "r.(?)" "p.(Ile114Val)" "" "0000530606" "00016554" "30" "-54" "0" "-54" "0" "c.-54A>G" "r.(?)" "p.(=)" "" "0000530608" "00024185" "30" "-39" "-15" "-39" "-12" "c.-39-15_-39-12del" "r.(=)" "p.(=)" "" "0000530608" "00016554" "30" "-301" "-15" "-301" "-12" "c.-301-15_-301-12del" "r.(=)" "p.(=)" "" "0000579832" "00024185" "50" "104" "0" "104" "0" "c.104C>T" "r.(?)" "p.(Pro35Leu)" "" "0000610657" "00024185" "50" "1071" "0" "1071" "0" "c.1071dup" "r.(?)" "p.(Gln358SerfsTer13)" "" "0000610657" "00016554" "50" "678" "0" "678" "0" "c.678dup" "r.(?)" "p.(Gln227SerfsTer13)" "" "0000621815" "00024185" "10" "1687" "-5" "1687" "-5" "c.1687-5T>A" "r.spl?" "p.?" "" "0000621815" "00016554" "10" "1294" "-5" "1294" "-5" "c.1294-5T>A" "r.spl?" "p.?" "" "0000621816" "00024185" "50" "1127" "0" "1127" "0" "c.1127A>G" "r.(?)" "p.(Gln376Arg)" "" "0000621816" "00016554" "50" "734" "0" "734" "0" "c.734A>G" "r.(?)" "p.(Gln245Arg)" "" "0000632035" "00024185" "50" "1127" "0" "1127" "0" "c.1127A>G" "r.(?)" "p.(Gln376Arg)" "" "0000652171" "00024185" "10" "1211" "0" "1211" "0" "c.1211G>T" "r.(?)" "p.(Gly404Val)" "" "0000652171" "00016554" "10" "818" "0" "818" "0" "c.818G>T" "r.(?)" "p.(Gly273Val)" "" "0000655729" "00024185" "30" "1228" "0" "1228" "0" "c.1228G>C" "r.(?)" "p.(Asp410His)" "" "0000655729" "00016554" "30" "835" "0" "835" "0" "c.835G>C" "r.(?)" "p.(Asp279His)" "" "0000655730" "00024185" "30" "937" "0" "937" "0" "c.937G>A" "r.(?)" "p.(Asp313Asn)" "" "0000655730" "00016554" "30" "544" "0" "544" "0" "c.544G>A" "r.(?)" "p.(Asp182Asn)" "" "0000655731" "00024185" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Tyr271Ter)" "" "0000655731" "00016554" "90" "420" "0" "420" "0" "c.420C>A" "r.(?)" "p.(Tyr140Ter)" "" "0000669947" "00024185" "10" "1211" "0" "1211" "0" "c.1211G>T" "r.(?)" "p.(Gly404Val)" "" "0000669947" "00016554" "10" "818" "0" "818" "0" "c.818G>T" "r.(?)" "p.(Gly273Val)" "" "0000677946" "00024185" "30" "916" "0" "916" "0" "c.916A>G" "r.(?)" "p.(Ile306Val)" "" "0000677946" "00016554" "30" "523" "0" "523" "0" "c.523A>G" "r.(?)" "p.(Ile175Val)" "" "0000677947" "00024185" "30" "916" "0" "916" "0" "c.916A>G" "r.(?)" "p.(Ile306Val)" "" "0000677947" "00016554" "30" "523" "0" "523" "0" "c.523A>G" "r.(?)" "p.(Ile175Val)" "" "0000689895" "00024185" "70" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Gly268Asp)" "" "0000689895" "00016554" "70" "410" "0" "410" "0" "c.410G>A" "r.(?)" "p.(Gly137Asp)" "" "0000689896" "00024185" "30" "64" "0" "64" "0" "c.64A>G" "r.(?)" "p.(Ile22Val)" "" "0000689896" "00016554" "30" "-199" "0" "-199" "0" "c.-199A>G" "r.(?)" "p.(=)" "" "0000721210" "00024185" "70" "255" "1" "255" "1" "c.255+1G>T" "r.spl?" "p.?" "" "0000721210" "00016554" "70" "-138" "-7270" "-138" "-7270" "c.-138-7270G>T" "r.(=)" "p.(=)" "" "0000793684" "00024185" "50" "938" "0" "938" "0" "c.938A>T" "r.(?)" "p.(Asp313Val)" "" "0000802885" "00024185" "10" "1505" "32" "1505" "36" "c.1505+32_1505+36del" "r.(=)" "p.(=)" "" "0000802885" "00016554" "10" "1112" "32" "1112" "36" "c.1112+32_1112+36del" "r.(=)" "p.(=)" "" "0000802886" "00024185" "10" "1505" "32" "1505" "36" "c.1505+32_1505+36dup" "r.(=)" "p.(=)" "" "0000802886" "00016554" "10" "1112" "32" "1112" "36" "c.1112+32_1112+36dup" "r.(=)" "p.(=)" "" "0000802887" "00024185" "50" "1416" "0" "1416" "0" "c.1416T>G" "r.(?)" "p.(Ser472Arg)" "" "0000802887" "00016554" "50" "1023" "0" "1023" "0" "c.1023T>G" "r.(?)" "p.(Ser341Arg)" "" "0000802888" "00024185" "50" "1127" "0" "1127" "0" "c.1127A>G" "r.(?)" "p.(Gln376Arg)" "" "0000802888" "00016554" "50" "734" "0" "734" "0" "c.734A>G" "r.(?)" "p.(Gln245Arg)" "" "0000802889" "00024185" "30" "1007" "-8" "1007" "-8" "c.1007-8C>T" "r.(=)" "p.(=)" "" "0000802889" "00016554" "30" "614" "-8" "614" "-8" "c.614-8C>T" "r.(=)" "p.(=)" "" "0000802890" "00024185" "10" "702" "8" "702" "9" "c.702+8_702+9delinsTG" "r.(=)" "p.(=)" "" "0000802890" "00016554" "10" "309" "8" "309" "9" "c.309+8_309+9delinsTG" "r.(=)" "p.(=)" "" "0000851395" "00024185" "30" "-153" "-9" "-153" "-9" "c.-153-9del" "r.(=)" "p.(=)" "" "0000851395" "00016554" "30" "-415" "-9" "-415" "-9" "c.-415-9del" "r.(=)" "p.(=)" "" "0000860606" "00024185" "50" "281" "0" "281" "0" "c.281A>G" "r.(?)" "p.(Gln94Arg)" "" "0000860606" "00016554" "50" "-113" "0" "-113" "0" "c.-113A>G" "r.(?)" "p.(=)" "" "0000877069" "00024185" "10" "924" "0" "924" "0" "c.924A>G" "r.(?)" "p.(Gln308=)" "" "0000887576" "00024185" "50" "1088" "0" "1088" "0" "c.1088G>A" "r.(?)" "p.(Arg363Gln)" "" "0000887576" "00016554" "50" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Arg232Gln)" "" "0000887577" "00024185" "70" "818" "0" "818" "0" "c.818G>A" "r.(?)" "p.(Arg273Gln)" "" "0000887577" "00016554" "70" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142Gln)" "" "0000887578" "00024185" "50" "125" "-1" "125" "-1" "c.125-1G>T" "r.spl?" "p.?" "" "0000887578" "00016554" "50" "-138" "-7402" "-138" "-7402" "c.-138-7402G>T" "r.(=)" "p.(=)" "" "0000912635" "00024185" "50" "1793" "-1" "1793" "-1" "c.1793-1G>C" "r.spl?" "p.?" "" "0000912635" "00016554" "50" "1400" "-1" "1400" "-1" "c.1400-1G>C" "r.spl?" "p.?" "" "0000912636" "00024185" "10" "1687" "-5" "1687" "-5" "c.1687-5T>A" "r.spl?" "p.?" "" "0000912636" "00016554" "10" "1294" "-5" "1294" "-5" "c.1294-5T>A" "r.spl?" "p.?" "" "0000927816" "00024185" "50" "347" "0" "347" "0" "c.347C>T" "r.(?)" "p.(Pro116Leu)" "" "0000929274" "00024185" "90" "289" "0" "296" "0" "c.289_296del" "r.(?)" "p.(Thr97Trpfs*8)" "" "0000929274" "00016554" "90" "-105" "0" "-98" "0" "c.-105_-98del" "r.(?)" "p.(=)" "" "0000948816" "00024185" "30" "1505" "32" "1505" "36" "c.1505+32_1505+36dup" "r.(=)" "p.(=)" "" "0000948816" "00016554" "30" "1112" "32" "1112" "36" "c.1112+32_1112+36dup" "r.(=)" "p.(=)" "" "0000948817" "00024185" "30" "771" "0" "771" "0" "c.771A>T" "r.(?)" "p.(Thr257=)" "" "0000948817" "00016554" "30" "378" "0" "378" "0" "c.378A>T" "r.(?)" "p.(Thr126=)" "" "0000948818" "00024185" "50" "768" "0" "768" "0" "c.768G>C" "r.(?)" "p.(Gln256His)" "" "0000948818" "00016554" "50" "375" "0" "375" "0" "c.375G>C" "r.(?)" "p.(Gln125His)" "" "0000948819" "00024185" "30" "661" "0" "661" "0" "c.661T>C" "r.(?)" "p.(=)" "" "0000948819" "00016554" "30" "268" "0" "268" "0" "c.268T>C" "r.(?)" "p.(=)" "" "0000948820" "00024185" "30" "-39" "-17" "-39" "-17" "c.-39-17T>C" "r.(=)" "p.(=)" "" "0000948820" "00016554" "30" "-301" "-17" "-301" "-17" "c.-301-17T>C" "r.(=)" "p.(=)" "" "0000964401" "00024185" "50" "1829" "0" "1829" "0" "c.1829A>G" "r.(?)" "p.(Tyr610Cys)" "" "0000964401" "00016554" "50" "1436" "0" "1436" "0" "c.1436A>G" "r.(?)" "p.(Tyr479Cys)" "" "0000964402" "00024185" "30" "125" "-7075" "125" "-7075" "c.125-7075A>T" "r.(=)" "p.(=)" "" "0000964402" "00016554" "30" "-139" "14150" "-139" "14150" "c.-139+14150A>T" "r.(=)" "p.(=)" "" "0000964403" "00024185" "30" "-226" "-5377" "-226" "-5377" "c.-226-5377C>G" "r.(=)" "p.(=)" "" "0000964403" "00016554" "30" "-488" "-5377" "-488" "-5377" "c.-488-5377C>G" "r.(=)" "p.(=)" "" "0000977505" "00024185" "30" "903" "0" "903" "0" "c.903G>T" "r.(?)" "p.(Gln301His)" "" "0000977505" "00016554" "30" "510" "0" "510" "0" "c.510G>T" "r.(?)" "p.(Gln170His)" "" "0000977506" "00024185" "30" "125" "-6815" "125" "-6800" "c.125-6815_125-6800del" "r.(=)" "p.(=)" "" "0000977506" "00016554" "30" "-138" "-14216" "-138" "-14201" "c.-138-14216_-138-14201del" "r.(=)" "p.(=)" "" "0000996164" "00024185" "30" "1742" "0" "1742" "0" "c.1742A>G" "r.(?)" "p.(Lys581Arg)" "" "0000996164" "00016554" "30" "1349" "0" "1349" "0" "c.1349A>G" "r.(?)" "p.(Lys450Arg)" "" "0000996165" "00024185" "30" "1506" "-43" "1506" "-43" "c.1506-43A>G" "r.(=)" "p.(=)" "" "0000996165" "00016554" "30" "1113" "-43" "1113" "-43" "c.1113-43A>G" "r.(=)" "p.(=)" "" "0000996166" "00024185" "30" "1213" "0" "1213" "0" "c.1213G>A" "r.(?)" "p.(Ala405Thr)" "" "0000996166" "00016554" "30" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Ala274Thr)" "" "0000996167" "00024185" "50" "1127" "0" "1127" "0" "c.1127A>G" "r.(?)" "p.(Gln376Arg)" "" "0000996167" "00016554" "50" "734" "0" "734" "0" "c.734A>G" "r.(?)" "p.(Gln245Arg)" "" "0000996168" "00024185" "30" "889" "0" "889" "0" "c.889T>G" "r.(?)" "p.(Leu297Val)" "" "0000996168" "00016554" "30" "496" "0" "496" "0" "c.496T>G" "r.(?)" "p.(Leu166Val)" "" "0000996169" "00024185" "30" "546" "17" "546" "17" "c.546+17A>C" "r.(=)" "p.(=)" "" "0000996169" "00016554" "30" "153" "17" "153" "17" "c.153+17A>C" "r.(=)" "p.(=)" "" "0000996170" "00024185" "30" "70" "0" "70" "0" "c.70A>G" "r.(?)" "p.(Asn24Asp)" "" "0000996170" "00016554" "30" "-193" "0" "-193" "0" "c.-193A>G" "r.(?)" "p.(=)" "" "0001008522" "00024185" "50" "1367" "0" "1367" "0" "c.1367A>C" "r.(?)" "p.(Glu456Ala)" "" "0001014268" "00024185" "10" "1687" "-98" "1687" "-98" "c.1687-98T>G" "r.(=)" "p.(=)" "" "0001014268" "00016554" "10" "1294" "-98" "1294" "-98" "c.1294-98T>G" "r.(=)" "p.(=)" "" "0001014269" "00024185" "10" "1594" "41" "1594" "41" "c.1594+41T>A" "r.(=)" "p.(=)" "" "0001014269" "00016554" "10" "1201" "41" "1201" "41" "c.1201+41T>A" "r.(=)" "p.(=)" "" "0001014270" "00024185" "10" "1369" "158" "1369" "158" "c.1369+158A>G" "r.(=)" "p.(=)" "" "0001014270" "00016554" "10" "976" "158" "976" "158" "c.976+158A>G" "r.(=)" "p.(=)" "" "0001014271" "00024185" "10" "1164" "-13" "1164" "-13" "c.1164-13C>T" "r.(=)" "p.(=)" "" "0001014271" "00016554" "10" "771" "-13" "771" "-13" "c.771-13C>T" "r.(=)" "p.(=)" "" "0001014272" "00024185" "10" "1164" "-171" "1164" "-171" "c.1164-171A>T" "r.(=)" "p.(=)" "" "0001014272" "00016554" "10" "771" "-171" "771" "-171" "c.771-171A>T" "r.(=)" "p.(=)" "" "0001014273" "00024185" "10" "1164" "-188" "1164" "-188" "c.1164-188A>T" "r.(=)" "p.(=)" "" "0001014273" "00016554" "10" "771" "-188" "771" "-188" "c.771-188A>T" "r.(=)" "p.(=)" "" "0001014274" "00024185" "10" "1006" "16" "1006" "16" "c.1006+16A>G" "r.(=)" "p.(=)" "" "0001014274" "00016554" "10" "613" "16" "613" "16" "c.613+16A>G" "r.(=)" "p.(=)" "" "0001014275" "00024185" "10" "870" "-33" "870" "-33" "c.870-33A>G" "r.(=)" "p.(=)" "" "0001014275" "00016554" "10" "477" "-33" "477" "-33" "c.477-33A>G" "r.(=)" "p.(=)" "" "0001014276" "00024185" "50" "725" "0" "725" "0" "c.725A>G" "r.(?)" "p.(Tyr242Cys)" "" "0001014276" "00016554" "50" "332" "0" "332" "0" "c.332A>G" "r.(?)" "p.(Tyr111Cys)" "" "0001029388" "00024185" "90" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Cys)" "" "0001030853" "00024185" "70" "86" "0" "86" "0" "c.86T>A" "r.(?)" "p.(Val29Glu)" "" "0001046097" "00024185" "30" "64" "0" "64" "0" "c.64A>G" "r.(?)" "p.(Ile22Val)" "" "0001046097" "00016554" "30" "-199" "0" "-199" "0" "c.-199A>G" "r.(?)" "p.(=)" "" "0001052824" "00024185" "10" "1792" "50" "1792" "50" "c.1792+50A>G" "r.(=)" "p.(=)" "" "0001052824" "00016554" "10" "1399" "50" "1399" "50" "c.1399+50A>G" "r.(=)" "p.(=)" "" "0001052825" "00024185" "70" "1071" "0" "1071" "0" "c.1071dup" "r.(?)" "p.(Gln358SerfsTer13)" "" "0001052825" "00016554" "70" "678" "0" "678" "0" "c.678dup" "r.(?)" "p.(Gln227SerfsTer13)" "" "0001052826" "00024185" "30" "703" "-144" "703" "-144" "c.703-144G>A" "r.(=)" "p.(=)" "" "0001052826" "00016554" "30" "310" "-144" "310" "-144" "c.310-144G>A" "r.(=)" "p.(=)" "" "0001052827" "00024185" "30" "-480" "0" "-480" "0" "c.-480C>T" "r.(?)" "p.(=)" "" "0001052827" "00016554" "30" "-742" "0" "-742" "0" "c.-742C>T" "r.(?)" "p.(=)" "" "0001061190" "00024185" "70" "950" "-2" "950" "-2" "c.950-2A>G" "r.(?)" "p.(?)" "" "0001064815" "00024185" "10" "1211" "0" "1211" "0" "c.1211G>T" "r.(?)" "p.(Gly404Val)" "" "0001064815" "00016554" "10" "818" "0" "818" "0" "c.818G>T" "r.(?)" "p.(Gly273Val)" "" "0001064816" "00024185" "50" "1056" "0" "1056" "0" "c.1056G>C" "r.(?)" "p.(Leu352Phe)" "" "0001064816" "00016554" "50" "663" "0" "663" "0" "c.663G>C" "r.(?)" "p.(Leu221Phe)" "" "0001064817" "00024185" "30" "702" "8" "702" "9" "c.702+8_702+9delinsTG" "r.(=)" "p.(=)" "" "0001064817" "00016554" "30" "309" "8" "309" "9" "c.309+8_309+9delinsTG" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000050526" "0000079506" "0000081554" "0000132211" "0000105878" "0000171456" "0000105879" "0000171457" "0000105880" "0000171458" "0000105881" "0000171459" "0000105882" "0000171460" "0000250533" "0000579832" "0000277268" "0000632035" "0000295482" "0000652171" "0000306259" "0000669947" "0000380541" "0000793684"