### 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" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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 = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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 = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 06731, 06985, 06986 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## 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 = 87 "{{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.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" "" "0000860962" "0" "50" "7" "92763216" "92763216" "subst" "0.000391789" "02327" "SAMD9L_000019" "g.92763216C>T" "" "" "" "SAMD9L(NM_152703.5):c.2069G>A (p.G690D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "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)" "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_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" "" ## 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 = 87 "{{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)" "" "0000860962" "00018390" "50" "2069" "0" "2069" "0" "c.2069G>A" "r.(?)" "p.(Gly690Asp)" "" "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)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0