### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SAMD9L) # 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}}" "SAMD9L" "sterile alpha motif domain containing 9-like" "7" "q21.2" "unknown" "NC_000007.13" "UD_132465538377" "" "https://www.LOVD.nl/SAMD9L" "" "1" "1349" "219285" "611170" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-12-22 12:03:38" "00006" "2026-03-06 17:26:39" ## 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}}" "00018390" "SAMD9L" "sterile alpha motif domain containing 9-like" "001" "NM_152703.2" "" "NP_689916.2" "" "" "" "-1216" "5917" "4755" "92777680" "92759368" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" "06731" "ATXPC" "Ataxia-pancytopenia syndrome" "AD" "159550" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06985" "SCA49" "ataxia, spinocerebellar, type 49" "AD" "619806" "" "" "" "00006" "2022-12-22 12:01:29" "" "" "06986" "M7MLS1" "monosomy 7 myelodysplasia and leukemia syndrome, type 1" "AD" "252270" "" "" "" "00006" "2022-12-22 12:03:03" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SAMD9L" "06731" "SAMD9L" "06985" "SAMD9L" "06986" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00472918" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "no" "Iran" "" "0" "" "" "" "Fam105618Pat15" "00473234" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "no" "Iran" "" "0" "" "" "" "Fam111477Pat431" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00472918" "05384" "00473234" "04255" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04255, 05384, 06731, 06985, 06986 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000357713" "05384" "00472918" "00006" "Unknown" "13y" "Sporadic case, prematurity, frequent falling, ataxia, mild ID, EMG/NCV: chronic sensorimotor neuropathy." "" "" "" "" "" "" "" "" "hereditary neuropathy" "0000358029" "04255" "00473234" "00006" "Familial, autosomal dominant" "59y" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000474587" "00472918" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474903" "00473234" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 93 "{{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}}" "0000533067" "0" "30" "7" "92762000" "92762000" "subst" "0.00224113" "01943" "SAMD9L_000002" "g.92762000T>C" "" "" "" "SAMD9L(NM_152703.4):c.3285A>G (p.K1095=), SAMD9L(NM_152703.5):c.3285A>G (p.K1095=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93132687T>C" "" "likely benign" "" "0000533068" "0" "30" "7" "92762258" "92762258" "subst" "0.00200077" "01943" "SAMD9L_000003" "g.92762258A>G" "" "" "" "SAMD9L(NM_001303496.1):c.3027T>C (p.(Cys1009=)), SAMD9L(NM_152703.4):c.3027T>C (p.C1009=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93132945A>G" "" "likely benign" "" "0000533069" "0" "50" "7" "92762328" "92762328" "subst" "1.63211E-5" "01943" "SAMD9L_000004" "g.92762328C>T" "" "" "" "SAMD9L(NM_152703.2):c.2957G>A (p.(Arg986His)), SAMD9L(NM_152703.4):c.2957G>A (p.R986H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93133015C>T" "" "VUS" "" "0000533070" "0" "70" "7" "92762645" "92762645" "subst" "0" "02327" "SAMD9L_000005" "g.92762645G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93133332G>T" "" "likely pathogenic" "" "0000533071" "0" "50" "7" "92762797" "92762797" "subst" "4.11502E-6" "01943" "SAMD9L_000006" "g.92762797C>A" "" "" "" "SAMD9L(NM_152703.2):c.2488G>T (p.(Glu830*)), SAMD9L(NM_152703.4):c.2488G>T (p.E830*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93133484C>A" "" "VUS" "" "0000533072" "0" "30" "7" "92763720" "92763720" "subst" "0.0139421" "01804" "SAMD9L_000007" "g.92763720G>A" "" "" "" "SAMD9L(NM_001303496.1):c.1565C>T (p.(Ala522Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93134407G>A" "" "likely benign" "" "0000533073" "0" "30" "7" "92763782" "92763782" "subst" "0.00223556" "01943" "SAMD9L_000008" "g.92763782T>C" "" "" "" "SAMD9L(NM_152703.4):c.1503A>G (p.R501=), SAMD9L(NM_152703.5):c.1503A>G (p.(Arg501=), p.R501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93134469T>C" "" "likely benign" "" "0000533074" "0" "30" "7" "92763782" "92763782" "subst" "0.00223556" "02326" "SAMD9L_000008" "g.92763782T>C" "" "" "" "SAMD9L(NM_152703.4):c.1503A>G (p.R501=), SAMD9L(NM_152703.5):c.1503A>G (p.(Arg501=), p.R501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93134469T>C" "" "likely benign" "" "0000533075" "0" "50" "7" "92764210" "92764210" "subst" "5.28997E-5" "01943" "SAMD9L_000009" "g.92764210G>A" "" "" "" "SAMD9L(NM_152703.4):c.1075C>T (p.R359W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93134897G>A" "" "VUS" "" "0000611324" "0" "50" "7" "92761722" "92761722" "subst" "0" "01943" "SAMD9L_000011" "g.92761722C>G" "" "" "" "SAMD9L(NM_152703.4):c.3563G>C (p.R1188P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93132409C>G" "" "VUS" "" "0000611325" "0" "30" "7" "92761875" "92761875" "subst" "0.0234423" "01804" "SAMD9L_000012" "g.92761875C>G" "" "" "" "SAMD9L(NM_001303496.1):c.3410G>C (p.(Gly1137Ala)), SAMD9L(NM_152703.5):c.3410G>C (p.G1137A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93132562C>G" "" "likely benign" "" "0000611326" "0" "50" "7" "92762155" "92762155" "subst" "2.85868E-5" "01943" "SAMD9L_000013" "g.92762155G>A" "" "" "" "SAMD9L(NM_152703.4):c.3130C>T (p.R1044C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93132842G>A" "" "VUS" "" "0000611327" "0" "30" "7" "92764419" "92764419" "subst" "0.0180415" "01804" "SAMD9L_000015" "g.92764419A>G" "" "" "" "SAMD9L(NM_001303496.1):c.866T>C (p.(Phe289Ser)), SAMD9L(NM_152703.5):c.866T>C (p.F289S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93135106A>G" "" "likely benign" "" "0000621952" "0" "50" "7" "92761147" "92761147" "dup" "0" "01943" "SAMD9L_000010" "g.92761147dup" "" "" "" "SAMD9L(NM_152703.2):c.4140dupA (p.(Gln1381fs)), SAMD9L(NM_152703.4):c.4140dupA (p.Q1381Tfs*77), SAMD9L(NM_152703.5):c.4140dupA (p.Q1381Tfs*77)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93131834dup" "" "VUS" "" "0000621953" "0" "30" "7" "92764071" "92764071" "subst" "0" "02326" "SAMD9L_000014" "g.92764071T>G" "" "" "" "SAMD9L(NM_152703.5):c.1214A>C (p.N405T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93134758T>G" "" "likely benign" "" "0000655918" "0" "30" "7" "92761053" "92761053" "subst" "9.35987E-5" "01943" "SAMD9L_000016" "g.92761053C>T" "" "" "" "SAMD9L(NM_152703.4):c.4232G>A (p.R1411Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93131740C>T" "" "likely benign" "" "0000655919" "0" "90" "7" "92762329" "92762329" "subst" "0" "02327" "SAMD9L_000017" "g.92762329G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93133016G>A" "" "pathogenic" "" "0000655920" "0" "30" "7" "92762435" "92762435" "subst" "3.27565E-5" "02326" "SAMD9L_000018" "g.92762435G>A" "" "" "" "SAMD9L(NM_152703.5):c.2850C>T (p.Y950=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93133122G>A" "" "likely benign" "" "0000655921" "0" "50" "7" "92763216" "92763216" "subst" "0.000391789" "02325" "SAMD9L_000019" "g.92763216C>T" "" "" "" "SAMD9L(NM_152703.5):c.2069G>A (p.(Gly690Asp), p.G690D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93133903C>T" "" "VUS" "" "0000655922" "0" "50" "7" "92763408" "92763408" "subst" "0" "02327" "SAMD9L_000020" "g.92763408G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93134095G>A" "" "VUS" "" "0000655923" "0" "30" "7" "92764880" "92764880" "subst" "1.22202E-5" "02326" "SAMD9L_000021" "g.92764880A>G" "" "" "" "SAMD9L(NM_152703.5):c.405T>C (p.I135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93135567A>G" "" "likely benign" "" "0000678223" "0" "30" "7" "92763589" "92763589" "subst" "0.0015828" "01943" "SAMD9L_000022" "g.92763589C>T" "" "" "" "SAMD9L(NM_152703.4):c.1696G>A (p.A566T), SAMD9L(NM_152703.5):c.1696G>A (p.A566T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678224" "0" "30" "7" "92764901" "92764901" "subst" "0.000154814" "02326" "SAMD9L_000023" "g.92764901A>G" "" "" "" "SAMD9L(NM_152703.5):c.384T>C (p.D128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690102" "0" "10" "7" "92762258" "92762258" "subst" "0.00200077" "01804" "SAMD9L_000003" "g.92762258A>G" "" "" "" "SAMD9L(NM_001303496.1):c.3027T>C (p.(Cys1009=)), SAMD9L(NM_152703.4):c.3027T>C (p.C1009=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721600" "0" "30" "7" "92761115" "92761115" "subst" "0.00113348" "02326" "SAMD9L_000024" "g.92761115C>T" "" "" "" "SAMD9L(NM_152703.5):c.4170G>A (p.L1390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721601" "0" "50" "7" "92761147" "92761147" "dup" "0" "02325" "SAMD9L_000010" "g.92761147dup" "" "" "" "SAMD9L(NM_152703.2):c.4140dupA (p.(Gln1381fs)), SAMD9L(NM_152703.4):c.4140dupA (p.Q1381Tfs*77), SAMD9L(NM_152703.5):c.4140dupA (p.Q1381Tfs*77)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721602" "0" "50" "7" "92762554" "92762554" "subst" "1.63788E-5" "01943" "SAMD9L_000025" "g.92762554C>T" "" "" "" "SAMD9L(NM_152703.4):c.2731G>A (p.G911R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721603" "0" "50" "7" "92764432" "92764432" "subst" "2.04452E-5" "02325" "SAMD9L_000026" "g.92764432G>A" "" "" "" "SAMD9L(NM_152703.5):c.853C>T (p.R285W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721604" "0" "30" "7" "92765101" "92765101" "subst" "8.13286E-6" "01943" "SAMD9L_000027" "g.92765101A>G" "" "" "" "SAMD9L(NM_152703.4):c.184T>C (p.W62R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803291" "0" "30" "7" "92761203" "92761203" "subst" "0.000118846" "01943" "SAMD9L_000028" "g.92761203A>G" "" "" "" "SAMD9L(NM_152703.2):c.4082T>C (p.(Val1361Ala)), SAMD9L(NM_152703.4):c.4082T>C (p.V1361A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803292" "0" "50" "7" "92762625" "92762625" "subst" "4.10169E-6" "02325" "SAMD9L_000029" "g.92762625T>C" "" "" "" "SAMD9L(NM_152703.5):c.2660A>G (p.Y887C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803293" "0" "30" "7" "92763367" "92763367" "subst" "0" "01943" "SAMD9L_000030" "g.92763367A>C" "" "" "" "SAMD9L(NM_152703.4):c.1918T>G (p.S640A), SAMD9L(NM_152703.5):c.1918T>G (p.S640A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803294" "0" "30" "7" "92764864" "92764864" "subst" "0" "02326" "SAMD9L_000031" "g.92764864C>T" "" "" "" "SAMD9L(NM_152703.5):c.421G>A (p.V141M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851717" "0" "50" "7" "92761908" "92761908" "subst" "0" "01943" "SAMD9L_000033" "g.92761908A>G" "" "" "" "SAMD9L(NM_152703.4):c.3377T>C (p.V1126A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851718" "0" "50" "7" "92762866" "92762866" "subst" "0" "02327" "SAMD9L_000035" "g.92762866C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851719" "0" "50" "7" "92764617" "92764617" "subst" "4.06878E-6" "02329" "SAMD9L_000040" "g.92764617C>T" "" "" "" "SAMD9L(NM_152703.5):c.668G>A (p.R223Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860959" "0" "30" "7" "92761430" "92761430" "subst" "8.18123E-5" "01943" "SAMD9L_000032" "g.92761430T>C" "" "" "" "SAMD9L(NM_152703.4):c.3855A>G (p.K1285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860960" "0" "50" "7" "92761966" "92761966" "subst" "1.63136E-5" "01943" "SAMD9L_000034" "g.92761966G>A" "" "" "" "SAMD9L(NM_152703.4):c.3319C>T (p.R1107C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860961" "0" "70" "7" "92762328" "92762328" "subst" "1.63211E-5" "02327" "SAMD9L_000004" "g.92762328C>T" "" "" "" "SAMD9L(NM_152703.2):c.2957G>A (p.(Arg986His)), SAMD9L(NM_152703.4):c.2957G>A (p.R986H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000860963" "0" "50" "7" "92763220" "92763220" "subst" "0.000102" "01943" "SAMD9L_000036" "g.92763220G>A" "" "" "" "SAMD9L(NM_152703.4):c.2065C>T (p.R689*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860964" "0" "30" "7" "92763372" "92763372" "subst" "0.00193353" "01804" "SAMD9L_000037" "g.92763372C>T" "" "" "" "SAMD9L(NM_001303496.1):c.1913G>A (p.(Arg638His)), SAMD9L(NM_152703.5):c.1913G>A (p.R638H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860965" "0" "30" "7" "92763377" "92763377" "subst" "0.00475192" "01804" "SAMD9L_000038" "g.92763377G>A" "" "" "" "SAMD9L(NM_001303496.1):c.1908C>T (p.(Pro636=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860966" "0" "50" "7" "92763736" "92763736" "subst" "0.000293434" "01943" "SAMD9L_000039" "g.92763736A>G" "" "" "" "SAMD9L(NM_152703.4):c.1549T>C (p.W517R), SAMD9L(NM_152703.5):c.1549T>C (p.(Trp517Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888026" "0" "30" "7" "92760714" "92760714" "subst" "6.52646E-5" "02325" "SAMD9L_000041" "g.92760714C>T" "" "" "" "SAMD9L(NM_152703.5):c.4571G>A (p.(Arg1524His), p.R1524H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888027" "0" "30" "7" "92760745" "92760745" "subst" "3.67092E-5" "02326" "SAMD9L_000042" "g.92760745T>C" "" "" "" "SAMD9L(NM_152703.5):c.4540A>G (p.K1514E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888028" "0" "30" "7" "92762000" "92762000" "subst" "0.00224113" "02326" "SAMD9L_000002" "g.92762000T>C" "" "" "" "SAMD9L(NM_152703.4):c.3285A>G (p.K1095=), SAMD9L(NM_152703.5):c.3285A>G (p.K1095=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888029" "0" "30" "7" "92762183" "92762183" "subst" "0.0030866" "02326" "SAMD9L_000043" "g.92762183A>G" "" "" "" "SAMD9L(NM_152703.5):c.3102T>C (p.D1034=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888031" "0" "30" "7" "92763290" "92763290" "subst" "0.000114165" "02326" "SAMD9L_000045" "g.92763290T>G" "" "" "" "SAMD9L(NM_152703.5):c.1995A>C (p.T665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888032" "0" "30" "7" "92763367" "92763367" "subst" "0" "02326" "SAMD9L_000030" "g.92763367A>C" "" "" "" "SAMD9L(NM_152703.4):c.1918T>G (p.S640A), SAMD9L(NM_152703.5):c.1918T>G (p.S640A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888033" "0" "30" "7" "92763589" "92763589" "subst" "0.0015828" "02326" "SAMD9L_000022" "g.92763589C>T" "" "" "" "SAMD9L(NM_152703.4):c.1696G>A (p.A566T), SAMD9L(NM_152703.5):c.1696G>A (p.A566T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912822" "0" "10" "7" "92761875" "92761875" "subst" "0.0234423" "02329" "SAMD9L_000012" "g.92761875C>G" "" "" "" "SAMD9L(NM_001303496.1):c.3410G>C (p.(Gly1137Ala)), SAMD9L(NM_152703.5):c.3410G>C (p.G1137A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912823" "0" "50" "7" "92762433" "92762436" "dup" "0" "02326" "SAMD9L_000046" "g.92762433_92762436dup" "" "" "" "SAMD9L(NM_152703.5):c.2849_2852dup (p.(Ser952Hisfs*2)), SAMD9L(NM_152703.5):c.2849_2852dupACAC (p.S952Hfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912824" "0" "10" "7" "92762681" "92762681" "subst" "0.174051" "02329" "SAMD9L_000047" "g.92762681A>G" "" "" "" "SAMD9L(NM_152703.5):c.2604T>C (p.A868=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912825" "0" "30" "7" "92763035" "92763035" "subst" "4.07554E-6" "02326" "SAMD9L_000048" "g.92763035C>G" "" "" "" "SAMD9L(NM_152703.5):c.2250G>C (p.L750=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912826" "0" "30" "7" "92763331" "92763331" "subst" "4.0802E-6" "02326" "SAMD9L_000049" "g.92763331C>T" "" "" "" "SAMD9L(NM_152703.5):c.1954G>A (p.V652I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912827" "0" "10" "7" "92764489" "92764489" "subst" "0.111573" "02329" "SAMD9L_000050" "g.92764489C>T" "" "" "" "SAMD9L(NM_152703.5):c.796G>A (p.V266I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924780" "0" "10" "7" "92760738" "92760738" "subst" "0.0565139" "02329" "SAMD9L_000051" "g.92760738T>G" "" "" "" "SAMD9L(NM_152703.5):c.4547A>C (p.N1516T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924781" "0" "30" "7" "92763372" "92763372" "subst" "0.00193353" "02326" "SAMD9L_000037" "g.92763372C>T" "" "" "" "SAMD9L(NM_001303496.1):c.1913G>A (p.(Arg638His)), SAMD9L(NM_152703.5):c.1913G>A (p.R638H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924782" "0" "10" "7" "92764982" "92764982" "subst" "0.222544" "02329" "SAMD9L_000052" "g.92764982C>T" "" "" "" "SAMD9L(NM_152703.5):c.303G>A (p.Q101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948962" "0" "30" "7" "92763376" "92763376" "subst" "0.000130521" "02326" "SAMD9L_000053" "g.92763376C>T" "" "" "" "SAMD9L(NM_152703.5):c.1909G>A (p.A637T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964711" "0" "50" "7" "92761147" "92761147" "dup" "0" "02329" "SAMD9L_000010" "g.92761147dup" "" "" "" "SAMD9L(NM_152703.2):c.4140dupA (p.(Gln1381fs)), SAMD9L(NM_152703.4):c.4140dupA (p.Q1381Tfs*77), SAMD9L(NM_152703.5):c.4140dupA (p.Q1381Tfs*77)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964712" "0" "10" "7" "92764068" "92764068" "subst" "0.00690165" "02329" "SAMD9L_000054" "g.92764068C>T" "" "" "" "SAMD9L(NM_152703.5):c.1217G>A (p.R406Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977898" "0" "30" "7" "92763782" "92763782" "subst" "0.00223556" "01804" "SAMD9L_000008" "g.92763782T>C" "" "" "" "SAMD9L(NM_152703.4):c.1503A>G (p.R501=), SAMD9L(NM_152703.5):c.1503A>G (p.(Arg501=), p.R501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977899" "0" "30" "7" "92764106" "92764106" "subst" "4.09792E-6" "01804" "SAMD9L_000055" "g.92764106A>G" "" "" "" "SAMD9L(NM_152703.5):c.1179T>C (p.(Ser393=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977900" "0" "50" "7" "92765186" "92765186" "subst" "0" "01804" "SAMD9L_000056" "g.92765186G>T" "" "" "" "SAMD9L(NM_152703.5):c.99C>A (p.(Tyr33*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996736" "0" "30" "7" "92760892" "92760892" "subst" "4.07143E-5" "01804" "SAMD9L_000057" "g.92760892G>A" "" "" "" "SAMD9L(NM_152703.2):c.4393C>T (p.(Arg1465Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996737" "0" "30" "7" "92760927" "92760927" "subst" "0" "01804" "SAMD9L_000058" "g.92760927G>A" "" "" "" "SAMD9L(NM_152703.2):c.4358C>T (p.(Ser1453Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996738" "0" "30" "7" "92761026" "92761026" "subst" "4.88404E-5" "01804" "SAMD9L_000059" "g.92761026C>T" "" "" "" "SAMD9L(NM_152703.2):c.4259G>A (p.(Ser1420Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996739" "0" "50" "7" "92761147" "92761147" "dup" "0" "01804" "SAMD9L_000010" "g.92761147dup" "" "" "" "SAMD9L(NM_152703.2):c.4140dupA (p.(Gln1381fs)), SAMD9L(NM_152703.4):c.4140dupA (p.Q1381Tfs*77), SAMD9L(NM_152703.5):c.4140dupA (p.Q1381Tfs*77)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996740" "0" "30" "7" "92761203" "92761203" "subst" "0.000118846" "01804" "SAMD9L_000028" "g.92761203A>G" "" "" "" "SAMD9L(NM_152703.2):c.4082T>C (p.(Val1361Ala)), SAMD9L(NM_152703.4):c.4082T>C (p.V1361A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996741" "0" "70" "7" "92762328" "92762328" "subst" "1.63211E-5" "01804" "SAMD9L_000004" "g.92762328C>T" "" "" "" "SAMD9L(NM_152703.2):c.2957G>A (p.(Arg986His)), SAMD9L(NM_152703.4):c.2957G>A (p.R986H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000996742" "0" "50" "7" "92762797" "92762797" "subst" "4.11502E-6" "01804" "SAMD9L_000006" "g.92762797C>A" "" "" "" "SAMD9L(NM_152703.2):c.2488G>T (p.(Glu830*)), SAMD9L(NM_152703.4):c.2488G>T (p.E830*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996743" "0" "50" "7" "92763127" "92763127" "subst" "0" "01804" "SAMD9L_000060" "g.92763127C>T" "" "" "" "SAMD9L(NM_152703.2):c.2158G>A (p.(Asp720Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996744" "0" "50" "7" "92763369" "92763369" "subst" "0" "01804" "SAMD9L_000061" "g.92763369C>T" "" "" "" "SAMD9L(NM_152703.2):c.1916G>A (p.(Gly639Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996745" "0" "30" "7" "92763625" "92763625" "subst" "2.88144E-5" "01804" "SAMD9L_000062" "g.92763625C>T" "" "" "" "SAMD9L(NM_152703.2):c.1660G>A (p.(Glu554Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996746" "0" "50" "7" "92764033" "92764033" "subst" "2.04898E-5" "01804" "SAMD9L_000063" "g.92764033T>C" "" "" "" "SAMD9L(NM_152703.2):c.1252A>G (p.(Ile418Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996747" "0" "50" "7" "92764263" "92764263" "subst" "4.06918E-6" "01804" "SAMD9L_000064" "g.92764263A>G" "" "" "" "SAMD9L(NM_152703.2):c.1022T>C (p.(Leu341Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996748" "0" "50" "7" "92764780" "92764780" "subst" "9.77987E-5" "01804" "SAMD9L_000065" "g.92764780C>G" "" "" "" "SAMD9L(NM_152703.2):c.505G>C (p.(Asp169His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996749" "0" "50" "7" "92765131" "92765131" "subst" "0" "02329" "SAMD9L_000066" "g.92765131C>G" "" "" "" "SAMD9L(NM_152703.5):c.154G>C (p.E52Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996750" "0" "50" "7" "92765275" "92765275" "subst" "0" "02327" "SAMD9L_000067" "g.92765275G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014390" "0" "50" "7" "92761483" "92761483" "subst" "0" "02325" "SAMD9L_000068" "g.92761483A>G" "" "" "" "SAMD9L(NM_152703.5):c.3802T>C (p.F1268L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014391" "0" "10" "7" "92764419" "92764419" "subst" "0.0180415" "02329" "SAMD9L_000015" "g.92764419A>G" "" "" "" "SAMD9L(NM_001303496.1):c.866T>C (p.(Phe289Ser)), SAMD9L(NM_152703.5):c.866T>C (p.F289S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025442" "0" "30" "7" "92763377" "92763377" "subst" "0.00475192" "02327" "SAMD9L_000038" "g.92763377G>A" "" "" "" "SAMD9L(NM_001303496.1):c.1908C>T (p.(Pro636=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036582" "0" "30" "7" "92760714" "92760714" "subst" "6.52646E-5" "01804" "SAMD9L_000041" "g.92760714C>T" "" "" "" "SAMD9L(NM_152703.5):c.4571G>A (p.(Arg1524His), p.R1524H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036583" "0" "50" "7" "92762158" "92762158" "subst" "4.0831E-6" "02325" "SAMD9L_000069" "g.92762158G>A" "" "" "" "SAMD9L(NM_152703.5):c.3127C>T (p.Q1043*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036584" "0" "10" "7" "92762257" "92762257" "subst" "0.00190709" "01804" "SAMD9L_000070" "g.92762257G>C" "" "" "" "SAMD9L(NM_152703.5):c.3028C>G (p.(Gln1010Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001052724" "0" "50" "7" "92762433" "92762436" "dup" "0" "01804" "SAMD9L_000046" "g.92762433_92762436dup" "" "" "" "SAMD9L(NM_152703.5):c.2849_2852dup (p.(Ser952Hisfs*2)), SAMD9L(NM_152703.5):c.2849_2852dupACAC (p.S952Hfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052725" "0" "30" "7" "92763216" "92763216" "subst" "0.000391789" "01804" "SAMD9L_000019" "g.92763216C>T" "" "" "" "SAMD9L(NM_152703.5):c.2069G>A (p.(Gly690Asp), p.G690D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052726" "0" "30" "7" "92763736" "92763736" "subst" "0.000293434" "01804" "SAMD9L_000039" "g.92763736A>G" "" "" "" "SAMD9L(NM_152703.4):c.1549T>C (p.W517R), SAMD9L(NM_152703.5):c.1549T>C (p.(Trp517Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064748" "0" "50" "7" "92763736" "92763736" "subst" "0.000293434" "02327" "SAMD9L_000039" "g.92763736A>G" "" "" "" "SAMD9L(NM_152703.4):c.1549T>C (p.W517R), SAMD9L(NM_152703.5):c.1549T>C (p.(Trp517Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001068985" "1" "50" "7" "92762977" "92762977" "subst" "0" "00006" "SAMD9L_000073" "g.92762977T>G" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.93133664T>G" "SCV006075211" "VUS" "ACMG" "0001069301" "0" "70" "7" "92762803" "92762803" "subst" "0" "00006" "SAMD9L_000072" "g.92762803G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1_VS, PM" "Germline" "" "" "0" "" "" "g.93133490G>A" "SCV006075210" "likely pathogenic" "ACMG" "0001070069" "0" "50" "7" "92761005" "92761005" "subst" "0" "00006" "SAMD9L_000071" "g.92761005T>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.93131692T>C" "SCV006075209" "VUS" "ACMG" ## 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 SAMD9L ## Count = 93 "{{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}}" "0000533067" "00018390" "30" "3285" "0" "3285" "0" "c.3285A>G" "r.(?)" "p.(Lys1095=)" "" "0000533068" "00018390" "30" "3027" "0" "3027" "0" "c.3027T>C" "r.(?)" "p.(Cys1009=)" "" "0000533069" "00018390" "50" "2957" "0" "2957" "0" "c.2957G>A" "r.(?)" "p.(Arg986His)" "" "0000533070" "00018390" "70" "2640" "0" "2640" "0" "c.2640C>A" "r.(?)" "p.(His880Gln)" "" "0000533071" "00018390" "50" "2488" "0" "2488" "0" "c.2488G>T" "r.(?)" "p.(Glu830Ter)" "" "0000533072" "00018390" "30" "1565" "0" "1565" "0" "c.1565C>T" "r.(?)" "p.(Ala522Val)" "" "0000533073" "00018390" "30" "1503" "0" "1503" "0" "c.1503A>G" "r.(?)" "p.(Arg501=)" "" "0000533074" "00018390" "30" "1503" "0" "1503" "0" "c.1503A>G" "r.(?)" "p.(Arg501=)" "" "0000533075" "00018390" "50" "1075" "0" "1075" "0" "c.1075C>T" "r.(?)" "p.(Arg359Trp)" "" "0000611324" "00018390" "50" "3563" "0" "3563" "0" "c.3563G>C" "r.(?)" "p.(Arg1188Pro)" "" "0000611325" "00018390" "30" "3410" "0" "3410" "0" "c.3410G>C" "r.(?)" "p.(Gly1137Ala)" "" "0000611326" "00018390" "50" "3130" "0" "3130" "0" "c.3130C>T" "r.(?)" "p.(Arg1044Cys)" "" "0000611327" "00018390" "30" "866" "0" "866" "0" "c.866T>C" "r.(?)" "p.(Phe289Ser)" "" "0000621952" "00018390" "50" "4140" "0" "4140" "0" "c.4140dup" "r.(?)" "p.(Gln1381ThrfsTer77)" "" "0000621953" "00018390" "30" "1214" "0" "1214" "0" "c.1214A>C" "r.(?)" "p.(Asn405Thr)" "" "0000655918" "00018390" "30" "4232" "0" "4232" "0" "c.4232G>A" "r.(?)" "p.(Arg1411Gln)" "" "0000655919" "00018390" "90" "2956" "0" "2956" "0" "c.2956C>T" "r.(?)" "p.(Arg986Cys)" "" "0000655920" "00018390" "30" "2850" "0" "2850" "0" "c.2850C>T" "r.(?)" "p.(Tyr950=)" "" "0000655921" "00018390" "50" "2069" "0" "2069" "0" "c.2069G>A" "r.(?)" "p.(Gly690Asp)" "" "0000655922" "00018390" "50" "1877" "0" "1877" "0" "c.1877C>T" "r.(?)" "p.(Ser626Leu)" "" "0000655923" "00018390" "30" "405" "0" "405" "0" "c.405T>C" "r.(?)" "p.(Ile135=)" "" "0000678223" "00018390" "30" "1696" "0" "1696" "0" "c.1696G>A" "r.(?)" "p.(Ala566Thr)" "" "0000678224" "00018390" "30" "384" "0" "384" "0" "c.384T>C" "r.(?)" "p.(Asp128=)" "" "0000690102" "00018390" "10" "3027" "0" "3027" "0" "c.3027T>C" "r.(?)" "p.(Cys1009=)" "" "0000721600" "00018390" "30" "4170" "0" "4170" "0" "c.4170G>A" "r.(?)" "p.(Leu1390=)" "" "0000721601" "00018390" "50" "4140" "0" "4140" "0" "c.4140dup" "r.(?)" "p.(Gln1381ThrfsTer77)" "" "0000721602" "00018390" "50" "2731" "0" "2731" "0" "c.2731G>A" "r.(?)" "p.(Gly911Arg)" "" "0000721603" "00018390" "50" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Arg285Trp)" "" "0000721604" "00018390" "30" "184" "0" "184" "0" "c.184T>C" "r.(?)" "p.(Trp62Arg)" "" "0000803291" "00018390" "30" "4082" "0" "4082" "0" "c.4082T>C" "r.(?)" "p.(Val1361Ala)" "" "0000803292" "00018390" "50" "2660" "0" "2660" "0" "c.2660A>G" "r.(?)" "p.(Tyr887Cys)" "" "0000803293" "00018390" "30" "1918" "0" "1918" "0" "c.1918T>G" "r.(?)" "p.(Ser640Ala)" "" "0000803294" "00018390" "30" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Val141Met)" "" "0000851717" "00018390" "50" "3377" "0" "3377" "0" "c.3377T>C" "r.(?)" "p.(Val1126Ala)" "" "0000851718" "00018390" "50" "2419" "0" "2419" "0" "c.2419G>A" "r.(?)" "p.(Glu807Lys)" "" "0000851719" "00018390" "50" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" "0000860959" "00018390" "30" "3855" "0" "3855" "0" "c.3855A>G" "r.(?)" "p.(Lys1285=)" "" "0000860960" "00018390" "50" "3319" "0" "3319" "0" "c.3319C>T" "r.(?)" "p.(Arg1107Cys)" "" "0000860961" "00018390" "70" "2957" "0" "2957" "0" "c.2957G>A" "r.(?)" "p.(Arg986His)" "" "0000860963" "00018390" "50" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Arg689*)" "" "0000860964" "00018390" "30" "1913" "0" "1913" "0" "c.1913G>A" "r.(?)" "p.(Arg638His)" "" "0000860965" "00018390" "30" "1908" "0" "1908" "0" "c.1908C>T" "r.(?)" "p.(Pro636=)" "" "0000860966" "00018390" "50" "1549" "0" "1549" "0" "c.1549T>C" "r.(?)" "p.(Trp517Arg)" "" "0000888026" "00018390" "30" "4571" "0" "4571" "0" "c.4571G>A" "r.(?)" "p.(Arg1524His)" "" "0000888027" "00018390" "30" "4540" "0" "4540" "0" "c.4540A>G" "r.(?)" "p.(Lys1514Glu)" "" "0000888028" "00018390" "30" "3285" "0" "3285" "0" "c.3285A>G" "r.(?)" "p.(Lys1095=)" "" "0000888029" "00018390" "30" "3102" "0" "3102" "0" "c.3102T>C" "r.(?)" "p.(Asp1034=)" "" "0000888031" "00018390" "30" "1995" "0" "1995" "0" "c.1995A>C" "r.(?)" "p.(Thr665=)" "" "0000888032" "00018390" "30" "1918" "0" "1918" "0" "c.1918T>G" "r.(?)" "p.(Ser640Ala)" "" "0000888033" "00018390" "30" "1696" "0" "1696" "0" "c.1696G>A" "r.(?)" "p.(Ala566Thr)" "" "0000912822" "00018390" "10" "3410" "0" "3410" "0" "c.3410G>C" "r.(?)" "p.(Gly1137Ala)" "" "0000912823" "00018390" "50" "2849" "0" "2852" "0" "c.2849_2852dup" "r.(?)" "p.(Ser952Hisfs*2)" "" "0000912824" "00018390" "10" "2604" "0" "2604" "0" "c.2604T>C" "r.(?)" "p.(Ala868=)" "" "0000912825" "00018390" "30" "2250" "0" "2250" "0" "c.2250G>C" "r.(?)" "p.(Leu750=)" "" "0000912826" "00018390" "30" "1954" "0" "1954" "0" "c.1954G>A" "r.(?)" "p.(Val652Ile)" "" "0000912827" "00018390" "10" "796" "0" "796" "0" "c.796G>A" "r.(?)" "p.(Val266Ile)" "" "0000924780" "00018390" "10" "4547" "0" "4547" "0" "c.4547A>C" "r.(?)" "p.(Asn1516Thr)" "" "0000924781" "00018390" "30" "1913" "0" "1913" "0" "c.1913G>A" "r.(?)" "p.(Arg638His)" "" "0000924782" "00018390" "10" "303" "0" "303" "0" "c.303G>A" "r.(?)" "p.(Gln101=)" "" "0000948962" "00018390" "30" "1909" "0" "1909" "0" "c.1909G>A" "r.(?)" "p.(Ala637Thr)" "" "0000964711" "00018390" "50" "4140" "0" "4140" "0" "c.4140dup" "r.(?)" "p.(Gln1381ThrfsTer77)" "" "0000964712" "00018390" "10" "1217" "0" "1217" "0" "c.1217G>A" "r.(?)" "p.(Arg406Gln)" "" "0000977898" "00018390" "30" "1503" "0" "1503" "0" "c.1503A>G" "r.(?)" "p.(Arg501=)" "" "0000977899" "00018390" "30" "1179" "0" "1179" "0" "c.1179T>C" "r.(?)" "p.(=)" "" "0000977900" "00018390" "50" "99" "0" "99" "0" "c.99C>A" "r.(?)" "p.(Tyr33*)" "" "0000996736" "00018390" "30" "4393" "0" "4393" "0" "c.4393C>T" "r.(?)" "p.(Arg1465Cys)" "" "0000996737" "00018390" "30" "4358" "0" "4358" "0" "c.4358C>T" "r.(?)" "p.(Ser1453Leu)" "" "0000996738" "00018390" "30" "4259" "0" "4259" "0" "c.4259G>A" "r.(?)" "p.(Ser1420Asn)" "" "0000996739" "00018390" "50" "4140" "0" "4140" "0" "c.4140dup" "r.(?)" "p.(Gln1381ThrfsTer77)" "" "0000996740" "00018390" "30" "4082" "0" "4082" "0" "c.4082T>C" "r.(?)" "p.(Val1361Ala)" "" "0000996741" "00018390" "70" "2957" "0" "2957" "0" "c.2957G>A" "r.(?)" "p.(Arg986His)" "" "0000996742" "00018390" "50" "2488" "0" "2488" "0" "c.2488G>T" "r.(?)" "p.(Glu830Ter)" "" "0000996743" "00018390" "50" "2158" "0" "2158" "0" "c.2158G>A" "r.(?)" "p.(Asp720Asn)" "" "0000996744" "00018390" "50" "1916" "0" "1916" "0" "c.1916G>A" "r.(?)" "p.(Gly639Glu)" "" "0000996745" "00018390" "30" "1660" "0" "1660" "0" "c.1660G>A" "r.(?)" "p.(Glu554Lys)" "" "0000996746" "00018390" "50" "1252" "0" "1252" "0" "c.1252A>G" "r.(?)" "p.(Ile418Val)" "" "0000996747" "00018390" "50" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Pro)" "" "0000996748" "00018390" "50" "505" "0" "505" "0" "c.505G>C" "r.(?)" "p.(Asp169His)" "" "0000996749" "00018390" "50" "154" "0" "154" "0" "c.154G>C" "r.(?)" "p.(Glu52Gln)" "" "0000996750" "00018390" "50" "10" "0" "10" "0" "c.10C>T" "r.(?)" "p.(Gln4*)" "" "0001014390" "00018390" "50" "3802" "0" "3802" "0" "c.3802T>C" "r.(?)" "p.(Phe1268Leu)" "" "0001014391" "00018390" "10" "866" "0" "866" "0" "c.866T>C" "r.(?)" "p.(Phe289Ser)" "" "0001025442" "00018390" "30" "1908" "0" "1908" "0" "c.1908C>T" "r.(?)" "p.(Pro636=)" "" "0001036582" "00018390" "30" "4571" "0" "4571" "0" "c.4571G>A" "r.(?)" "p.(Arg1524His)" "" "0001036583" "00018390" "50" "3127" "0" "3127" "0" "c.3127C>T" "r.(?)" "p.(Gln1043*)" "" "0001036584" "00018390" "10" "3028" "0" "3028" "0" "c.3028C>G" "r.(?)" "p.(Gln1010Glu)" "" "0001052724" "00018390" "50" "2849" "0" "2852" "0" "c.2849_2852dup" "r.(?)" "p.(Ser952Hisfs*2)" "" "0001052725" "00018390" "30" "2069" "0" "2069" "0" "c.2069G>A" "r.(?)" "p.(Gly690Asp)" "" "0001052726" "00018390" "30" "1549" "0" "1549" "0" "c.1549T>C" "r.(?)" "p.(Trp517Arg)" "" "0001064748" "00018390" "50" "1549" "0" "1549" "0" "c.1549T>C" "r.(?)" "p.(Trp517Arg)" "" "0001068985" "00018390" "50" "2308" "0" "2308" "0" "c.2308A>C" "r.(?)" "p.(Lys770Gln)" "" "0001069301" "00018390" "70" "2482" "0" "2482" "0" "c.2482C>T" "r.(?)" "p.(Arg828Ter)" "" "0001070069" "00018390" "50" "4280" "0" "4280" "0" "c.4280A>G" "r.(?)" "p.(Tyr1427Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000474587" "0001068985" "0000474587" "0001070069" "0000474903" "0001069301"