### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SAMD9) # 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}}" "SAMD9" "sterile alpha motif domain containing 9" "7" "q21.2" "unknown" "NC_000007.13" "UD_132118379149" "" "https://www.LOVD.nl/SAMD9" "" "1" "1348" "54809" "610456" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SAMD9_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-12-28 16:28:58" "00000" "2025-11-01 13:22:20" ## 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}}" "00018389" "SAMD9" "transcript variant 1" "002" "NM_017654.3" "" "NP_060124.2" "" "" "" "-270" "6585" "4770" "92747336" "92728826" "" "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}}" "02945" "NFTC" "Tumoral calcinosis, familial, normophosphatemic" "AR" "610455" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06736" "MIRAGE" "MIRAGE syndrome" "AD" "617053" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "07052" "adrenal hyperplasia" "adrenal hyperplasia" "" "" "" "" "" "00006" "2023-12-24 11:17:16" "00006" "2025-10-31 12:56:23" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SAMD9" "02945" "SAMD9" "06736" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00397591" "" "" "" "2" "" "04141" "{PMID:Topaz 2006:16960814}, {PMID:Chefetz 2008:18094730}" "2-generation family, 2 affected sibs, unaffected heterozygous carrier parents; maternal grandparents Jewish-Yemenite origin, paternal grandmother/paternal grandfather Jewish-Moroccan origin" "M" "?" "Israel" "" "0" "" "" "Jewish-Yemenite;Jewish-Morocco" "Fam1;FamPatII2" "00397592" "" "" "00397591" "1" "" "04141" "{PMID:Chefetz 2008:18094730}" "sister" "F" "?" "Israel" "" "0" "" "" "Jewish-Yemenite;Jewish-Morocco" "FamPatII1" "00444485" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat93" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00397591" "02945" "00397592" "02945" "00444485" "07052" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02945, 06736, 07052 ## Count = 3 "{{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}}" "0000290715" "02945" "00397591" "04141" "Familial, autosomal recessive" "06y" "Retinopathy of prematurity: HP:0500049: Subcutaneous nodule HP:0001482: Edema HP:0000969: Erythema HP:0010783: Gingivitis HP:0000230" "06y" "06y" "Retinopathy of prematurity: HP:0500049: Subcutaneous nodule HP:0001482: Edema HP:0000969: Erythema HP:0010783: Gingivitis HP:0000230" "" "" "" "" "Normophosphatemic familial tumoral calcinosis" "" "0000302060" "02945" "00397592" "04141" "Familial, autosomal recessive" "06y" "Retinopathy of prematurity (HP:0500049), Subcutaneous calcification (HP:0007618), Edema (HP:0000969), Erythema (HP:0010783), Abnormal pigmentation of the oral mucosa (HP:0100669), Gingivitis (HP:0000230)" "06y" "06y" "06" "" "" "" "" "Normophosphatemic Familial Tumoral Calcinosis" "Normophosphatemic Familial Tumoral Calcinosis" "0000333738" "07052" "00444485" "00006" "Familial, autosomal dominant" "" "dehydration; intrauterine growth retardation; asphyxia neonatorum; convulsions; infections; MODS; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP" "1d" "" "" "" "" "" "" "MIRAGE" "MIRAGE syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000398830" "00397591" "1" "04141" "04141" "2021-12-26 21:21:16" "00006" "2021-12-28 16:47:20" "microsat;PCRq;RFLP;SEQ" "DNA" "" "" "0000398931" "00397592" "1" "00006" "00006" "2021-12-28 16:32:33" "" "" "SEQ" "DNA" "" "" "0000446053" "00444485" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000398830" "SAMD9" "0000398931" "SAMD9" "0000446053" "SAMD9" ## 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 = 121 "{{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}}" "0000256006" "0" "50" "7" "92730918" "92730918" "subst" "0" "01943" "SAMD9_000001" "g.92730918A>G" "" "" "" "SAMD9(NM_017654.3):c.4493T>C (p.I1498T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93101605A>G" "" "VUS" "" "0000331693" "0" "50" "7" "92732406" "92732406" "subst" "2.84821E-5" "01804" "SAMD9_000002" "g.92732406A>G" "" "" "" "SAMD9(NM_001193307.1):c.3005T>C (p.(Leu1002Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93103093A>G" "" "VUS" "" "0000533056" "0" "50" "7" "92731606" "92731606" "del" "4.08133E-6" "01943" "SAMD9_000003" "g.92731606del" "" "" "" "SAMD9(NM_017654.3):c.3805delG (p.D1269Ifs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93102293del" "" "VUS" "" "0000533057" "0" "50" "7" "92732196" "92732196" "subst" "0.000142389" "01943" "SAMD9_000004" "g.92732196A>G" "" "" "" "SAMD9(NM_017654.3):c.3215T>C (p.L1072P), SAMD9(NM_017654.4):c.3215T>C (p.(Leu1072Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93102883A>G" "" "VUS" "" "0000533058" "0" "90" "7" "92732491" "92732491" "subst" "0" "02325" "SAMD9_000005" "g.92732491C>T" "" "" "" "SAMD9(NM_017654.4):c.2920G>A (p.E974K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93103178C>T" "" "pathogenic" "" "0000533059" "0" "30" "7" "92732566" "92732566" "subst" "0.000427524" "01943" "SAMD9_000006" "g.92732566C>A" "" "" "" "SAMD9(NM_017654.3):c.2845G>T (p.A949S, p.(Ala949Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93103253C>A" "" "likely benign" "" "0000533060" "0" "90" "7" "92732940" "92732940" "subst" "0" "02327" "SAMD9_000007" "g.92732940C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93103627C>T" "" "pathogenic" "" "0000533061" "0" "30" "7" "92733157" "92733157" "subst" "9.34344E-5" "02325" "SAMD9_000008" "g.92733157A>T" "" "" "" "SAMD9(NM_017654.4):c.2254T>A (p.(Trp752Arg), p.W752R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93103844A>T" "" "likely benign" "" "0000533062" "0" "30" "7" "92733727" "92733727" "subst" "2.44031E-5" "01943" "SAMD9_000009" "g.92733727C>T" "" "" "" "SAMD9(NM_017654.3):c.1684G>A (p.A562T), SAMD9(NM_017654.4):c.1684G>A (p.(Ala562Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93104414C>T" "" "likely benign" "" "0000533063" "0" "30" "7" "92734000" "92734000" "subst" "0" "01804" "SAMD9_000010" "g.92734000C>G" "" "" "" "SAMD9(NM_001193307.1):c.1411G>C (p.(Glu471Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93104687C>G" "" "likely benign" "" "0000533064" "0" "10" "7" "92734064" "92734064" "subst" "0.00442273" "01943" "SAMD9_000011" "g.92734064A>G" "" "" "" "SAMD9(NM_017654.3):c.1347T>C (p.N449=), SAMD9(NM_017654.4):c.1347T>C (p.(Asn449=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93104751A>G" "" "benign" "" "0000533065" "0" "70" "7" "92734638" "92734638" "subst" "0" "01804" "SAMD9_000012" "g.92734638T>G" "" "" "" "SAMD9(NM_001193307.1):c.773A>C (p.(Glu258Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93105325T>G" "" "likely pathogenic" "" "0000611313" "0" "30" "7" "92730745" "92730745" "subst" "0.00561857" "01804" "SAMD9_000013" "g.92730745C>T" "" "" "" "SAMD9(NM_001193307.1):c.4666G>A (p.(Ala1556Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93101432C>T" "" "likely benign" "" "0000611314" "0" "30" "7" "92731309" "92731309" "subst" "0.00144865" "01943" "SAMD9_000014" "g.92731309C>T" "" "" "" "SAMD9(NM_017654.3):c.4102G>A (p.E1368K), SAMD9(NM_017654.4):c.4102G>A (p.E1368K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93101996C>T" "" "likely benign" "" "0000611315" "0" "30" "7" "92731309" "92731309" "subst" "0.00144865" "02326" "SAMD9_000014" "g.92731309C>T" "" "" "" "SAMD9(NM_017654.3):c.4102G>A (p.E1368K), SAMD9(NM_017654.4):c.4102G>A (p.E1368K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93101996C>T" "" "likely benign" "" "0000611316" "0" "30" "7" "92731410" "92731410" "subst" "0.000224387" "01943" "SAMD9_000015" "g.92731410C>A" "" "" "" "SAMD9(NM_017654.3):c.4001G>T (p.R1334I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93102097C>A" "" "likely benign" "" "0000611317" "0" "30" "7" "92731586" "92731586" "subst" "0.0150273" "01804" "SAMD9_000016" "g.92731586A>G" "" "" "" "SAMD9(NM_001193307.1):c.3825T>C (p.(Phe1275=)), SAMD9(NM_017654.4):c.3825T>C (p.F1275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93102273A>G" "" "likely benign" "" "0000611318" "0" "30" "7" "92732212" "92732212" "subst" "0" "01804" "SAMD9_000017" "g.92732212C>G" "" "" "" "SAMD9(NM_001193307.1):c.3199G>C (p.(Val1067Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93102899C>G" "" "likely benign" "" "0000611319" "0" "50" "7" "92732725" "92732725" "subst" "0.00050164" "01943" "SAMD9_000018" "g.92732725A>G" "" "" "" "SAMD9(NM_017654.3):c.2686T>C (p.Y896H), SAMD9(NM_017654.4):c.2686T>C (p.Y896H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93103412A>G" "" "VUS" "" "0000611320" "0" "70" "7" "92733360" "92733360" "subst" "0" "01943" "SAMD9_000019" "g.92733360T>C" "" "" "" "SAMD9(NM_017654.3):c.2051A>G (p.Y684C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93104047T>C" "" "likely pathogenic" "" "0000611321" "0" "50" "7" "92733645" "92733645" "subst" "0" "01804" "SAMD9_000020" "g.92733645A>G" "" "" "" "SAMD9(NM_001193307.1):c.1766T>C (p.(Leu589Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93104332A>G" "" "VUS" "" "0000611322" "0" "30" "7" "92734359" "92734359" "subst" "5.28503E-5" "01804" "SAMD9_000021" "g.92734359T>A" "" "" "" "SAMD9(NM_001193307.1):c.1052A>T (p.(Asp351Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93105046T>A" "" "likely benign" "" "0000611323" "0" "50" "7" "92735396" "92735396" "subst" "0" "01804" "SAMD9_000023" "g.92735396A>T" "" "" "" "SAMD9(NM_001193307.1):c.15T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93106083A>T" "" "VUS" "" "0000621951" "0" "30" "7" "92735065" "92735065" "subst" "0" "01943" "SAMD9_000022" "g.92735065C>T" "" "" "" "SAMD9(NM_017654.3):c.346G>A (p.G116S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93105752C>T" "" "likely benign" "" "0000655912" "0" "30" "7" "92730753" "92730753" "subst" "7.72458E-5" "02326" "SAMD9_000024" "g.92730753A>G" "" "" "" "SAMD9(NM_017654.3):c.4658T>C (p.I1553T), SAMD9(NM_017654.4):c.4658T>C (p.I1553T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93101440A>G" "" "likely benign" "" "0000655913" "0" "50" "7" "92730994" "92730994" "subst" "6.91186E-5" "02327" "SAMD9_000025" "g.92730994G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93101681G>A" "" "VUS" "" "0000655914" "0" "50" "7" "92733611" "92733612" "del" "0" "01943" "SAMD9_000026" "g.92733611_92733612del" "" "" "" "SAMD9(NM_017654.3):c.1800_1801delAA (p.E600Dfs*12), SAMD9(NM_017654.4):c.1800_1801delAA (p.E600Dfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93104298_93104299del" "" "VUS" "" "0000655915" "0" "50" "7" "92733766" "92733766" "subst" "4.06593E-6" "02327" "SAMD9_000027" "g.92733766C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93104453C>T" "" "VUS" "" "0000655916" "0" "30" "7" "92734802" "92734802" "subst" "0.000219398" "01943" "SAMD9_000028" "g.92734802T>C" "" "" "" "SAMD9(NM_017654.3):c.609A>G (p.T203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93105489T>C" "" "likely benign" "" "0000655917" "0" "50" "7" "92735029" "92735029" "subst" "0" "01943" "SAMD9_000029" "g.92735029T>C" "" "" "" "SAMD9(NM_017654.3):c.382A>G (p.M128V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93105716T>C" "" "VUS" "" "0000678218" "0" "50" "7" "92730687" "92730687" "subst" "0.00170385" "01943" "SAMD9_000030" "g.92730687C>T" "" "" "" "SAMD9(NM_017654.3):c.4724G>A (p.G1575E), SAMD9(NM_017654.4):c.4724G>A (p.G1575E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678219" "0" "50" "7" "92730753" "92730753" "subst" "7.72458E-5" "01943" "SAMD9_000024" "g.92730753A>G" "" "" "" "SAMD9(NM_017654.3):c.4658T>C (p.I1553T), SAMD9(NM_017654.4):c.4658T>C (p.I1553T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678220" "0" "30" "7" "92732240" "92732240" "subst" "0.000370156" "01804" "SAMD9_000031" "g.92732240T>C" "" "" "" "SAMD9(NM_001193307.1):c.3171A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678221" "0" "30" "7" "92732403" "92732403" "subst" "0.001469" "01943" "SAMD9_000032" "g.92732403T>C" "" "" "" "SAMD9(NM_017654.3):c.3008A>G (p.N1003S), SAMD9(NM_017654.4):c.3008A>G (p.(Asn1003Ser), p.N1003S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678222" "0" "10" "7" "92733975" "92733975" "subst" "0.0594348" "02327" "SAMD9_000033" "g.92733975G>A" "" "" "" "SAMD9(NM_017654.4):c.1436C>T (p.T479M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690097" "0" "30" "7" "92732403" "92732403" "subst" "0.001469" "02326" "SAMD9_000032" "g.92732403T>C" "" "" "" "SAMD9(NM_017654.3):c.3008A>G (p.N1003S), SAMD9(NM_017654.4):c.3008A>G (p.(Asn1003Ser), p.N1003S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690098" "0" "50" "7" "92732725" "92732725" "subst" "0.00050164" "02325" "SAMD9_000018" "g.92732725A>G" "" "" "" "SAMD9(NM_017654.3):c.2686T>C (p.Y896H), SAMD9(NM_017654.4):c.2686T>C (p.Y896H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690099" "0" "50" "7" "92733358" "92733358" "subst" "5.28623E-5" "02325" "SAMD9_000034" "g.92733358G>A" "" "" "" "SAMD9(NM_017654.4):c.2053C>T (p.R685*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690100" "0" "30" "7" "92734832" "92734832" "subst" "9.34481E-5" "02326" "SAMD9_000035" "g.92734832C>T" "" "" "" "SAMD9(NM_017654.4):c.579G>A (p.P193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690101" "0" "30" "7" "92735316" "92735316" "subst" "0.000187611" "01943" "SAMD9_000036" "g.92735316T>A" "" "" "" "SAMD9(NM_017654.3):c.95A>T (p.H32L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721597" "0" "50" "7" "92730738" "92730738" "subst" "8.13015E-5" "01943" "SAMD9_000037" "g.92730738A>T" "" "" "" "SAMD9(NM_017654.3):c.4673T>A (p.L1558*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721598" "0" "70" "7" "92733531" "92733531" "del" "0.000130178" "01943" "SAMD9_000038" "g.92733531del" "" "" "" "SAMD9(NM_017654.3):c.1880delC (p.S627Ffs*16), SAMD9(NM_017654.4):c.1880del (p.(Ser627PhefsTer16)), SAMD9(NM_017654.4):c.1880delC (p.S627Ffs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721599" "0" "50" "7" "92734103" "92734103" "subst" "8.14823E-6" "02325" "SAMD9_000039" "g.92734103C>T" "" "" "" "SAMD9(NM_017654.4):c.1308G>A (p.(Trp436*), p.W436*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803285" "0" "50" "7" "92730753" "92730753" "subst" "7.72458E-5" "02325" "SAMD9_000024" "g.92730753A>G" "" "" "" "SAMD9(NM_017654.3):c.4658T>C (p.I1553T), SAMD9(NM_017654.4):c.4658T>C (p.I1553T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803286" "0" "50" "7" "92731079" "92731081" "del" "0" "01943" "SAMD9_000040" "g.92731079_92731081del" "" "" "" "SAMD9(NM_017654.3):c.4334_4336delAAC (p.(Gln1445del)), SAMD9(NM_017654.3):c.4334_4336delAAC (p.Q1445del), SAMD9(NM_017654.4):c.4334_4336delAAC (p....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803287" "0" "50" "7" "92732104" "92732104" "subst" "0" "01943" "SAMD9_000041" "g.92732104G>C" "" "" "" "SAMD9(NM_017654.3):c.3307C>G (p.L1103V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803288" "0" "50" "7" "92733338" "92733338" "subst" "7.3238E-5" "02325" "SAMD9_000042" "g.92733338C>T" "" "" "" "SAMD9(NM_017654.4):c.2073G>A (p.W691*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803289" "0" "30" "7" "92734358" "92734358" "subst" "0.000170754" "01943" "SAMD9_000043" "g.92734358G>A" "" "" "" "SAMD9(NM_017654.3):c.1053C>T (p.D351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803290" "0" "30" "7" "92734749" "92734749" "subst" "0.000125927" "01943" "SAMD9_000044" "g.92734749C>T" "" "" "" "SAMD9(NM_017654.3):c.662G>A (p.R221Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000831233" "11" "90" "7" "92730928" "92730928" "subst" "0" "00006" "SAMD9_000045" "g.92730928T>C" "" "{PMID:Chefetz 2008:18094730}" "" "K1495E" "variant found in controls 1/154 Yemenite Jews, 0/612 non-Yemenite, 0/93 non-Jewish Yemenite" "Germline" "yes" "" "0" "" "" "g.93101615T>C" "{CV:16268}" "pathogenic (recessive)" "" "0000831234" "21" "90" "7" "92734381" "92734381" "subst" "3.65991E-5" "00006" "SAMD9_000046" "g.92734381G>A" "" "{PMID:Chefetz 2008:18094730}" "" "R344X" "variant found in controls 5/154 Yemenite Jews, 0/183 non-Yemenite, 0/93 non-Jewish Yemenite" "Germline" "yes" "" "0" "" "" "g.93105068G>A" "" "pathogenic (recessive)" "" "0000831235" "11" "90" "7" "92730928" "92730928" "subst" "0" "00006" "SAMD9_000045" "g.92730928T>C" "" "{PMID:Topaz 2006:16960814}, {PMID:Chefetz 2008:18094730}" "" "K1495E" "variant found in controls 1/154 Yemenite Jews, 0/612 non-Yemenite, 0/93 non-Jewish Yemenite" "Germline" "yes" "" "0" "" "" "g.93101615T>C" "{CV:16268}" "pathogenic (recessive)" "" "0000831236" "21" "90" "7" "92734381" "92734381" "subst" "3.65991E-5" "00006" "SAMD9_000046" "g.92734381G>A" "" "{PMID:Chefetz 2008:18094730}" "" "R344X" "variant found in controls 5/154 Yemenite Jews, 0/183 non-Yemenite, 0/93 non-Jewish Yemenite" "Germline" "yes" "" "0" "" "" "g.93105068G>A" "" "pathogenic (recessive)" "" "0000847797" "0" "70" "7" "92732842" "92732842" "subst" "0" "03779" "SAMD9_000047" "g.92732842G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000851716" "0" "50" "7" "92730687" "92730687" "subst" "0.00170385" "02325" "SAMD9_000030" "g.92730687C>T" "" "" "" "SAMD9(NM_017654.3):c.4724G>A (p.G1575E), SAMD9(NM_017654.4):c.4724G>A (p.G1575E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860951" "0" "30" "7" "92730881" "92730881" "subst" "3.66509E-5" "01943" "SAMD9_000048" "g.92730881G>A" "" "" "" "SAMD9(NM_017654.3):c.4530C>T (p.S1510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860952" "0" "30" "7" "92731766" "92731766" "dup" "0" "01804" "SAMD9_000049" "g.92731766dup" "" "" "" "SAMD9(NM_001193307.1):c.3651dup (p.(Asp1218*)), SAMD9(NM_017654.4):c.3651dupT (p.D1218*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860953" "0" "30" "7" "92732008" "92732008" "subst" "0.000109908" "02326" "SAMD9_000050" "g.92732008T>C" "" "" "" "SAMD9(NM_017654.4):c.3403A>G (p.I1135V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860954" "0" "30" "7" "92732235" "92732235" "subst" "0.000353863" "01943" "SAMD9_000051" "g.92732235T>C" "" "" "" "SAMD9(NM_017654.3):c.3176A>G (p.H1059R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860955" "0" "30" "7" "92732769" "92732769" "subst" "0.0167787" "01804" "SAMD9_000052" "g.92732769T>C" "" "" "" "SAMD9(NM_001193307.1):c.2642A>G (p.(Asp881Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860956" "0" "30" "7" "92734065" "92734065" "subst" "0.0138709" "01804" "SAMD9_000053" "g.92734065T>C" "" "" "" "SAMD9(NM_001193307.1):c.1346A>G (p.(Asn449Ser)), SAMD9(NM_017654.4):c.1346A>G (p.N449S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860957" "0" "30" "7" "92735154" "92735154" "subst" "0.00416416" "01804" "SAMD9_000054" "g.92735154G>A" "" "" "" "SAMD9(NM_001193307.1):c.257C>T (p.(Ser86Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860958" "0" "10" "7" "92735188" "92735188" "subst" "0.0205359" "01804" "SAMD9_000055" "g.92735188G>A" "" "" "" "SAMD9(NM_001193307.1):c.223C>T (p.(Arg75Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888023" "0" "30" "7" "92731344" "92731344" "subst" "0.000668667" "02326" "SAMD9_000056" "g.92731344T>C" "" "" "" "SAMD9(NM_001193307.1):c.4067A>G (p.(Glu1356Gly)), SAMD9(NM_017654.4):c.4067A>G (p.E1356G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888024" "0" "50" "7" "92733407" "92733407" "subst" "0" "02325" "SAMD9_000057" "g.92733407G>C" "" "" "" "SAMD9(NM_017654.4):c.2004C>G (p.D668E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888025" "0" "50" "7" "92733611" "92733612" "del" "0" "02326" "SAMD9_000026" "g.92733611_92733612del" "" "" "" "SAMD9(NM_017654.3):c.1800_1801delAA (p.E600Dfs*12), SAMD9(NM_017654.4):c.1800_1801delAA (p.E600Dfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912819" "0" "10" "7" "92733975" "92733975" "subst" "0.0594348" "02329" "SAMD9_000033" "g.92733975G>A" "" "" "" "SAMD9(NM_017654.4):c.1436C>T (p.T479M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912820" "0" "10" "7" "92734051" "92734051" "subst" "0.0545691" "02329" "SAMD9_000058" "g.92734051C>T" "" "" "" "SAMD9(NM_017654.4):c.1360G>A (p.A454T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912821" "0" "10" "7" "92734451" "92734451" "subst" "0.371014" "02329" "SAMD9_000059" "g.92734451A>G" "" "" "" "SAMD9(NM_017654.4):c.960T>C (p.Y320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924773" "0" "10" "7" "92731586" "92731586" "subst" "0.0150273" "02329" "SAMD9_000016" "g.92731586A>G" "" "" "" "SAMD9(NM_001193307.1):c.3825T>C (p.(Phe1275=)), SAMD9(NM_017654.4):c.3825T>C (p.F1275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924774" "0" "30" "7" "92731766" "92731766" "dup" "0" "02326" "SAMD9_000049" "g.92731766dup" "" "" "" "SAMD9(NM_001193307.1):c.3651dup (p.(Asp1218*)), SAMD9(NM_017654.4):c.3651dupT (p.D1218*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924775" "0" "10" "7" "92732731" "92732731" "subst" "0.00538029" "02329" "SAMD9_000060" "g.92732731T>C" "" "" "" "SAMD9(NM_017654.4):c.2680A>G (p.K894E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924776" "0" "50" "7" "92733531" "92733531" "del" "0.000130178" "02326" "SAMD9_000038" "g.92733531del" "" "" "" "SAMD9(NM_017654.3):c.1880delC (p.S627Ffs*16), SAMD9(NM_017654.4):c.1880del (p.(Ser627PhefsTer16)), SAMD9(NM_017654.4):c.1880delC (p.S627Ffs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924777" "0" "10" "7" "92733766" "92733766" "subst" "0.0895522" "02329" "SAMD9_000061" "g.92733766C>A" "" "" "" "SAMD9(NM_017654.4):c.1645G>T (p.V549L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924778" "0" "10" "7" "92734065" "92734065" "subst" "0.0138709" "02329" "SAMD9_000053" "g.92734065T>C" "" "" "" "SAMD9(NM_001193307.1):c.1346A>G (p.(Asn449Ser)), SAMD9(NM_017654.4):c.1346A>G (p.N449S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924779" "0" "10" "7" "92734983" "92734983" "subst" "0.115554" "02329" "SAMD9_000062" "g.92734983A>G" "" "" "" "SAMD9(NM_017654.4):c.428T>C (p.(Ile143Thr), p.I143T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000954263" "0" "70" "7" "92730813" "92730813" "subst" "0" "00006" "SAMD9_000063" "g.92730813C>T" "" "{PMID:Duan 2023:37586839}" "" "" "" "De novo" "" "" "0" "" "" "g.93101500C>T" "" "likely pathogenic" "ACMG" "0000964710" "0" "30" "7" "92735165" "92735165" "subst" "6.50005E-5" "02326" "SAMD9_000064" "g.92735165C>T" "" "" "" "SAMD9(NM_017654.4):c.246G>A (p.S82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977891" "0" "10" "7" "92731599" "92731599" "subst" "0.000987803" "01804" "SAMD9_000065" "g.92731599A>G" "" "" "" "SAMD9(NM_017654.4):c.3812T>C (p.(Phe1271Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977892" "0" "50" "7" "92731668" "92731668" "subst" "0.000122392" "01804" "SAMD9_000066" "g.92731668A>C" "" "" "" "SAMD9(NM_017654.4):c.3743T>G (p.(Leu1248Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977893" "0" "30" "7" "92732403" "92732403" "subst" "0.001469" "01804" "SAMD9_000032" "g.92732403T>C" "" "" "" "SAMD9(NM_017654.3):c.3008A>G (p.N1003S), SAMD9(NM_017654.4):c.3008A>G (p.(Asn1003Ser), p.N1003S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977894" "0" "50" "7" "92733157" "92733157" "subst" "9.34344E-5" "01804" "SAMD9_000008" "g.92733157A>T" "" "" "" "SAMD9(NM_017654.4):c.2254T>A (p.(Trp752Arg), p.W752R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977895" "0" "50" "7" "92733531" "92733531" "del" "0.000130178" "01804" "SAMD9_000038" "g.92733531del" "" "" "" "SAMD9(NM_017654.3):c.1880delC (p.S627Ffs*16), SAMD9(NM_017654.4):c.1880del (p.(Ser627PhefsTer16)), SAMD9(NM_017654.4):c.1880delC (p.S627Ffs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977896" "0" "10" "7" "92734064" "92734064" "subst" "0.00442273" "01804" "SAMD9_000011" "g.92734064A>G" "" "" "" "SAMD9(NM_017654.3):c.1347T>C (p.N449=), SAMD9(NM_017654.4):c.1347T>C (p.(Asn449=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977897" "0" "90" "7" "92734381" "92734381" "subst" "3.65991E-5" "01804" "SAMD9_000046" "g.92734381G>A" "" "" "" "SAMD9(NM_017654.4):c.1030C>T (p.(Arg344Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000996719" "0" "30" "7" "92731079" "92731081" "del" "0" "01804" "SAMD9_000040" "g.92731079_92731081del" "" "" "" "SAMD9(NM_017654.3):c.4334_4336delAAC (p.(Gln1445del)), SAMD9(NM_017654.3):c.4334_4336delAAC (p.Q1445del), SAMD9(NM_017654.4):c.4334_4336delAAC (p....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996720" "0" "30" "7" "92731344" "92731344" "subst" "0.000668667" "01804" "SAMD9_000056" "g.92731344T>C" "" "" "" "SAMD9(NM_001193307.1):c.4067A>G (p.(Glu1356Gly)), SAMD9(NM_017654.4):c.4067A>G (p.E1356G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996721" "0" "30" "7" "92731401" "92731401" "subst" "1.22442E-5" "01804" "SAMD9_000067" "g.92731401A>G" "" "" "" "SAMD9(NM_017654.3):c.4010T>C (p.(Val1337Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996722" "0" "30" "7" "92731525" "92731525" "subst" "2.44224E-5" "01804" "SAMD9_000068" "g.92731525C>T" "" "" "" "SAMD9(NM_017654.3):c.3886G>A (p.(Val1296Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996723" "0" "30" "7" "92731647" "92731647" "subst" "3.67386E-5" "01804" "SAMD9_000069" "g.92731647G>A" "" "" "" "SAMD9(NM_017654.3):c.3764C>T (p.(Pro1255Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996724" "0" "50" "7" "92731683" "92731686" "del" "0" "01804" "SAMD9_000070" "g.92731683_92731686del" "" "" "" "SAMD9(NM_017654.3):c.3728_3731delACAA (p.(Asn1243fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996725" "0" "30" "7" "92731698" "92731698" "subst" "4.07521E-6" "01804" "SAMD9_000071" "g.92731698A>C" "" "" "" "SAMD9(NM_017654.3):c.3713T>G (p.(Ile1238Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996726" "0" "30" "7" "92732219" "92732219" "subst" "1.22035E-5" "01804" "SAMD9_000072" "g.92732219A>C" "" "" "" "SAMD9(NM_017654.3):c.3192T>G (p.(Asn1064Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996727" "0" "50" "7" "92732277" "92732277" "subst" "0" "01804" "SAMD9_000073" "g.92732277C>A" "" "" "" "SAMD9(NM_017654.3):c.3134G>T (p.(Gly1045Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996728" "0" "30" "7" "92732566" "92732566" "subst" "0.000427524" "01804" "SAMD9_000006" "g.92732566C>A" "" "" "" "SAMD9(NM_017654.3):c.2845G>T (p.A949S, p.(Ala949Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996729" "0" "50" "7" "92732766" "92732766" "subst" "2.85698E-5" "01804" "SAMD9_000074" "g.92732766A>C" "" "" "" "SAMD9(NM_017654.3):c.2645T>G (p.(Phe882Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996730" "0" "50" "7" "92733281" "92733281" "subst" "0" "01804" "SAMD9_000075" "g.92733281T>G" "" "" "" "SAMD9(NM_017654.3):c.2130A>C (p.(Lys710Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996731" "0" "30" "7" "92733409" "92733409" "subst" "3.65913E-5" "01804" "SAMD9_000076" "g.92733409C>T" "" "" "" "SAMD9(NM_001193307.1):c.2002G>A (p.(Asp668Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996732" "0" "50" "7" "92733499" "92733499" "subst" "4.06875E-6" "01804" "SAMD9_000077" "g.92733499A>G" "" "" "" "SAMD9(NM_017654.3):c.1912T>C (p.(Ser638Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996733" "0" "30" "7" "92733883" "92733883" "subst" "1.62619E-5" "01804" "SAMD9_000078" "g.92733883G>A" "" "" "" "SAMD9(NM_017654.3):c.1528C>T (p.(Pro510Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996734" "0" "30" "7" "92734429" "92734429" "subst" "8.14087E-6" "01804" "SAMD9_000079" "g.92734429A>G" "" "" "" "SAMD9(NM_001193307.1):c.982T>C (p.(Tyr328His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996735" "0" "30" "7" "92734557" "92734557" "subst" "8.13114E-6" "01804" "SAMD9_000080" "g.92734557C>T" "" "" "" "SAMD9(NM_001193307.1):c.854G>A (p.(Arg285Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014389" "0" "50" "7" "92731079" "92731081" "del" "0" "02325" "SAMD9_000040" "g.92731079_92731081del" "" "" "" "SAMD9(NM_017654.3):c.4334_4336delAAC (p.(Gln1445del)), SAMD9(NM_017654.3):c.4334_4336delAAC (p.Q1445del), SAMD9(NM_017654.4):c.4334_4336delAAC (p....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025440" "0" "70" "7" "92732473" "92732473" "subst" "0" "02327" "SAMD9_000081" "g.92732473C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025441" "0" "50" "7" "92733649" "92733649" "subst" "4.0707E-6" "02325" "SAMD9_000082" "g.92733649C>A" "" "" "" "SAMD9(NM_017654.4):c.1762G>T (p.D588Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036571" "0" "50" "7" "92730928" "92730928" "subst" "0" "02327" "SAMD9_000083" "g.92730928T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036572" "0" "50" "7" "92731206" "92731206" "subst" "0" "01804" "SAMD9_000084" "g.92731206G>C" "" "" "" "SAMD9(NM_017654.4):c.4205C>G (p.(Ser1402Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036573" "0" "50" "7" "92731306" "92731306" "subst" "1.22063E-5" "01804" "SAMD9_000085" "g.92731306A>G" "" "" "" "SAMD9(NM_017654.4):c.4105T>C (p.(Tyr1369His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036574" "0" "50" "7" "92731474" "92731474" "subst" "4.0715E-6" "01804" "SAMD9_000086" "g.92731474A>G" "" "" "" "SAMD9(NM_017654.4):c.3937T>C (p.(Ser1313Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036575" "0" "70" "7" "92731565" "92731565" "subst" "0" "01804" "SAMD9_000087" "g.92731565G>T" "" "" "" "SAMD9(NM_017654.4):c.3846C>A (p.(Asn1282Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001036576" "0" "50" "7" "92732269" "92732269" "subst" "0" "02327" "SAMD9_000088" "g.92732269C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036577" "0" "50" "7" "92732593" "92732603" "del" "0" "01804" "SAMD9_000089" "g.92732593_92732603del" "" "" "" "SAMD9(NM_017654.4):c.2809_2819del (p.(Gln937Ilefs*17))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036578" "0" "50" "7" "92732982" "92732982" "del" "2.033E-5" "01804" "SAMD9_000090" "g.92732982del" "" "" "" "SAMD9(NM_017654.4):c.2429del (p.(Leu810ArgfsTer9))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036579" "0" "30" "7" "92733727" "92733727" "subst" "2.44031E-5" "01804" "SAMD9_000009" "g.92733727C>T" "" "" "" "SAMD9(NM_017654.3):c.1684G>A (p.A562T), SAMD9(NM_017654.4):c.1684G>A (p.(Ala562Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036580" "0" "50" "7" "92734128" "92734128" "subst" "0" "01804" "SAMD9_000091" "g.92734128A>C" "" "" "" "SAMD9(NM_017654.4):c.1283T>G (p.(Leu428*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036581" "0" "10" "7" "92734983" "92734983" "subst" "0.115554" "01804" "SAMD9_000062" "g.92734983A>G" "" "" "" "SAMD9(NM_017654.4):c.428T>C (p.(Ile143Thr), p.I143T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001052719" "0" "30" "7" "92730825" "92730825" "subst" "8.55049E-5" "01804" "SAMD9_000092" "g.92730825C>T" "" "" "" "SAMD9(NM_017654.4):c.4586G>A (p.(Arg1529His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052720" "0" "30" "7" "92732196" "92732196" "subst" "0.000142389" "01804" "SAMD9_000004" "g.92732196A>G" "" "" "" "SAMD9(NM_017654.3):c.3215T>C (p.L1072P), SAMD9(NM_017654.4):c.3215T>C (p.(Leu1072Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052721" "0" "50" "7" "92733744" "92733744" "subst" "0" "01804" "SAMD9_000093" "g.92733744A>G" "" "" "" "SAMD9(NM_017654.4):c.1667T>C (p.(Leu556Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052722" "0" "50" "7" "92734103" "92734103" "subst" "8.14823E-6" "01804" "SAMD9_000039" "g.92734103C>T" "" "" "" "SAMD9(NM_017654.4):c.1308G>A (p.(Trp436*), p.W436*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052723" "0" "50" "7" "92734684" "92734684" "del" "0" "01804" "SAMD9_000094" "g.92734684del" "" "" "" "SAMD9(NM_017654.4):c.730del (p.(His244Metfs*23))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SAMD9 ## Count = 121 "{{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}}" "0000256006" "00018389" "50" "4493" "0" "4493" "0" "c.4493T>C" "r.(?)" "p.(Ile1498Thr)" "" "0000331693" "00018389" "50" "3005" "0" "3005" "0" "c.3005T>C" "r.(?)" "p.(Leu1002Pro)" "" "0000533056" "00018389" "50" "3805" "0" "3805" "0" "c.3805del" "r.(?)" "p.(Asp1269IlefsTer10)" "" "0000533057" "00018389" "50" "3215" "0" "3215" "0" "c.3215T>C" "r.(?)" "p.(Leu1072Pro)" "" "0000533058" "00018389" "90" "2920" "0" "2920" "0" "c.2920G>A" "r.(?)" "p.(Glu974Lys)" "" "0000533059" "00018389" "30" "2845" "0" "2845" "0" "c.2845G>T" "r.(?)" "p.(Ala949Ser)" "" "0000533060" "00018389" "90" "2471" "0" "2471" "0" "c.2471G>A" "r.(?)" "p.(Arg824Gln)" "" "0000533061" "00018389" "30" "2254" "0" "2254" "0" "c.2254T>A" "r.(?)" "p.(Trp752Arg)" "" "0000533062" "00018389" "30" "1684" "0" "1684" "0" "c.1684G>A" "r.(?)" "p.(Ala562Thr)" "" "0000533063" "00018389" "30" "1411" "0" "1411" "0" "c.1411G>C" "r.(?)" "p.(Glu471Gln)" "" "0000533064" "00018389" "10" "1347" "0" "1347" "0" "c.1347T>C" "r.(?)" "p.(Asn449=)" "" "0000533065" "00018389" "70" "773" "0" "773" "0" "c.773A>C" "r.(?)" "p.(Glu258Ala)" "" "0000611313" "00018389" "30" "4666" "0" "4666" "0" "c.4666G>A" "r.(?)" "p.(Ala1556Thr)" "" "0000611314" "00018389" "30" "4102" "0" "4102" "0" "c.4102G>A" "r.(?)" "p.(Glu1368Lys)" "" "0000611315" "00018389" "30" "4102" "0" "4102" "0" "c.4102G>A" "r.(?)" "p.(Glu1368Lys)" "" "0000611316" "00018389" "30" "4001" "0" "4001" "0" "c.4001G>T" "r.(?)" "p.(Arg1334Ile)" "" "0000611317" "00018389" "30" "3825" "0" "3825" "0" "c.3825T>C" "r.(?)" "p.(Phe1275=)" "" "0000611318" "00018389" "30" "3199" "0" "3199" "0" "c.3199G>C" "r.(?)" "p.(Val1067Leu)" "" "0000611319" "00018389" "50" "2686" "0" "2686" "0" "c.2686T>C" "r.(?)" "p.(Tyr896His)" "" "0000611320" "00018389" "70" "2051" "0" "2051" "0" "c.2051A>G" "r.(?)" "p.(Tyr684Cys)" "" "0000611321" "00018389" "50" "1766" "0" "1766" "0" "c.1766T>C" "r.(?)" "p.(Leu589Pro)" "" "0000611322" "00018389" "30" "1052" "0" "1052" "0" "c.1052A>T" "r.(?)" "p.(Asp351Val)" "" "0000611323" "00018389" "50" "15" "0" "15" "0" "c.15T>A" "r.(?)" "p.(Leu5=)" "" "0000621951" "00018389" "30" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Gly116Ser)" "" "0000655912" "00018389" "30" "4658" "0" "4658" "0" "c.4658T>C" "r.(?)" "p.(Ile1553Thr)" "" "0000655913" "00018389" "50" "4417" "0" "4417" "0" "c.4417C>T" "r.(?)" "p.(Arg1473Cys)" "" "0000655914" "00018389" "50" "1800" "0" "1801" "0" "c.1800_1801del" "r.(?)" "p.(Glu600AspfsTer12)" "" "0000655915" "00018389" "50" "1645" "0" "1645" "0" "c.1645G>A" "r.(?)" "p.(Val549Met)" "" "0000655916" "00018389" "30" "609" "0" "609" "0" "c.609A>G" "r.(?)" "p.(Thr203=)" "" "0000655917" "00018389" "50" "382" "0" "382" "0" "c.382A>G" "r.(?)" "p.(Met128Val)" "" "0000678218" "00018389" "50" "4724" "0" "4724" "0" "c.4724G>A" "r.(?)" "p.(Gly1575Glu)" "" "0000678219" "00018389" "50" "4658" "0" "4658" "0" "c.4658T>C" "r.(?)" "p.(Ile1553Thr)" "" "0000678220" "00018389" "30" "3171" "0" "3171" "0" "c.3171A>G" "r.(?)" "p.(Ala1057=)" "" "0000678221" "00018389" "30" "3008" "0" "3008" "0" "c.3008A>G" "r.(?)" "p.(Asn1003Ser)" "" "0000678222" "00018389" "10" "1436" "0" "1436" "0" "c.1436C>T" "r.(?)" "p.(Thr479Met)" "" "0000690097" "00018389" "30" "3008" "0" "3008" "0" "c.3008A>G" "r.(?)" "p.(Asn1003Ser)" "" "0000690098" "00018389" "50" "2686" "0" "2686" "0" "c.2686T>C" "r.(?)" "p.(Tyr896His)" "" "0000690099" "00018389" "50" "2053" "0" "2053" "0" "c.2053C>T" "r.(?)" "p.(Arg685Ter)" "" "0000690100" "00018389" "30" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Pro193=)" "" "0000690101" "00018389" "30" "95" "0" "95" "0" "c.95A>T" "r.(?)" "p.(His32Leu)" "" "0000721597" "00018389" "50" "4673" "0" "4673" "0" "c.4673T>A" "r.(?)" "p.(Leu1558*)" "" "0000721598" "00018389" "70" "1880" "0" "1880" "0" "c.1880del" "r.(?)" "p.(Ser627Phefs*16)" "" "0000721599" "00018389" "50" "1308" "0" "1308" "0" "c.1308G>A" "r.(?)" "p.(Trp436*)" "" "0000803285" "00018389" "50" "4658" "0" "4658" "0" "c.4658T>C" "r.(?)" "p.(Ile1553Thr)" "" "0000803286" "00018389" "50" "4334" "0" "4336" "0" "c.4334_4336del" "r.(?)" "p.(Gln1445del)" "" "0000803287" "00018389" "50" "3307" "0" "3307" "0" "c.3307C>G" "r.(?)" "p.(Leu1103Val)" "" "0000803288" "00018389" "50" "2073" "0" "2073" "0" "c.2073G>A" "r.(?)" "p.(Trp691*)" "" "0000803289" "00018389" "30" "1053" "0" "1053" "0" "c.1053C>T" "r.(?)" "p.(Asp351=)" "" "0000803290" "00018389" "30" "662" "0" "662" "0" "c.662G>A" "r.(?)" "p.(Arg221Gln)" "" "0000831233" "00018389" "90" "4483" "0" "4483" "0" "c.4483A>G" "r.(?)" "p.(Lys1495Glu)" "" "0000831234" "00018389" "90" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344*)" "" "0000831235" "00018389" "90" "4483" "0" "4483" "0" "c.4483A>G" "r.(?)" "p.(Lys1495Glu)" "" "0000831236" "00018389" "90" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344*)" "" "0000847797" "00018389" "70" "2569" "0" "2569" "0" "c.2569C>T" "r.(?)" "p.(Leu857Phe)" "" "0000851716" "00018389" "50" "4724" "0" "4724" "0" "c.4724G>A" "r.(?)" "p.(Gly1575Glu)" "" "0000860951" "00018389" "30" "4530" "0" "4530" "0" "c.4530C>T" "r.(?)" "p.(Ser1510=)" "" "0000860952" "00018389" "30" "3651" "0" "3651" "0" "c.3651dup" "r.(?)" "p.(Asp1218*)" "" "0000860953" "00018389" "30" "3403" "0" "3403" "0" "c.3403A>G" "r.(?)" "p.(Ile1135Val)" "" "0000860954" "00018389" "30" "3176" "0" "3176" "0" "c.3176A>G" "r.(?)" "p.(His1059Arg)" "" "0000860955" "00018389" "30" "2642" "0" "2642" "0" "c.2642A>G" "r.(?)" "p.(Asp881Gly)" "" "0000860956" "00018389" "30" "1346" "0" "1346" "0" "c.1346A>G" "r.(?)" "p.(Asn449Ser)" "" "0000860957" "00018389" "30" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Ser86Phe)" "" "0000860958" "00018389" "10" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75Trp)" "" "0000888023" "00018389" "30" "4067" "0" "4067" "0" "c.4067A>G" "r.(?)" "p.(Glu1356Gly)" "" "0000888024" "00018389" "50" "2004" "0" "2004" "0" "c.2004C>G" "r.(?)" "p.(Asp668Glu)" "" "0000888025" "00018389" "50" "1800" "0" "1801" "0" "c.1800_1801del" "r.(?)" "p.(Glu600AspfsTer12)" "" "0000912819" "00018389" "10" "1436" "0" "1436" "0" "c.1436C>T" "r.(?)" "p.(Thr479Met)" "" "0000912820" "00018389" "10" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Ala454Thr)" "" "0000912821" "00018389" "10" "960" "0" "960" "0" "c.960T>C" "r.(?)" "p.(Tyr320=)" "" "0000924773" "00018389" "10" "3825" "0" "3825" "0" "c.3825T>C" "r.(?)" "p.(Phe1275=)" "" "0000924774" "00018389" "30" "3651" "0" "3651" "0" "c.3651dup" "r.(?)" "p.(Asp1218*)" "" "0000924775" "00018389" "10" "2680" "0" "2680" "0" "c.2680A>G" "r.(?)" "p.(Lys894Glu)" "" "0000924776" "00018389" "50" "1880" "0" "1880" "0" "c.1880del" "r.(?)" "p.(Ser627Phefs*16)" "" "0000924777" "00018389" "10" "1645" "0" "1645" "0" "c.1645G>T" "r.(?)" "p.(Val549Leu)" "" "0000924778" "00018389" "10" "1346" "0" "1346" "0" "c.1346A>G" "r.(?)" "p.(Asn449Ser)" "" "0000924779" "00018389" "10" "428" "0" "428" "0" "c.428T>C" "r.(?)" "p.(Ile143Thr)" "" "0000954263" "00018389" "70" "4598" "0" "4598" "0" "c.4598G>A" "r.(?)" "p.(Arg1533Gln)" "" "0000964710" "00018389" "30" "246" "0" "246" "0" "c.246G>A" "r.(?)" "p.(=)" "" "0000977891" "00018389" "10" "3812" "0" "3812" "0" "c.3812T>C" "r.(?)" "p.(Phe1271Ser)" "" "0000977892" "00018389" "50" "3743" "0" "3743" "0" "c.3743T>G" "r.(?)" "p.(Leu1248*)" "" "0000977893" "00018389" "30" "3008" "0" "3008" "0" "c.3008A>G" "r.(?)" "p.(Asn1003Ser)" "" "0000977894" "00018389" "50" "2254" "0" "2254" "0" "c.2254T>A" "r.(?)" "p.(Trp752Arg)" "" "0000977895" "00018389" "50" "1880" "0" "1880" "0" "c.1880del" "r.(?)" "p.(Ser627Phefs*16)" "" "0000977896" "00018389" "10" "1347" "0" "1347" "0" "c.1347T>C" "r.(?)" "p.(Asn449=)" "" "0000977897" "00018389" "90" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344*)" "" "0000996719" "00018389" "30" "4334" "0" "4336" "0" "c.4334_4336del" "r.(?)" "p.(Gln1445del)" "" "0000996720" "00018389" "30" "4067" "0" "4067" "0" "c.4067A>G" "r.(?)" "p.(Glu1356Gly)" "" "0000996721" "00018389" "30" "4010" "0" "4010" "0" "c.4010T>C" "r.(?)" "p.(Val1337Ala)" "" "0000996722" "00018389" "30" "3886" "0" "3886" "0" "c.3886G>A" "r.(?)" "p.(Val1296Met)" "" "0000996723" "00018389" "30" "3764" "0" "3764" "0" "c.3764C>T" "r.(?)" "p.(Pro1255Leu)" "" "0000996724" "00018389" "50" "3728" "0" "3731" "0" "c.3728_3731del" "r.(?)" "p.(Asn1243Metfs*5)" "" "0000996725" "00018389" "30" "3713" "0" "3713" "0" "c.3713T>G" "r.(?)" "p.(Ile1238Ser)" "" "0000996726" "00018389" "30" "3192" "0" "3192" "0" "c.3192T>G" "r.(?)" "p.(Asn1064Lys)" "" "0000996727" "00018389" "50" "3134" "0" "3134" "0" "c.3134G>T" "r.(?)" "p.(Gly1045Val)" "" "0000996728" "00018389" "30" "2845" "0" "2845" "0" "c.2845G>T" "r.(?)" "p.(Ala949Ser)" "" "0000996729" "00018389" "50" "2645" "0" "2645" "0" "c.2645T>G" "r.(?)" "p.(Phe882Cys)" "" "0000996730" "00018389" "50" "2130" "0" "2130" "0" "c.2130A>C" "r.(?)" "p.(Lys710Asn)" "" "0000996731" "00018389" "30" "2002" "0" "2002" "0" "c.2002G>A" "r.(?)" "p.(Asp668Asn)" "" "0000996732" "00018389" "50" "1912" "0" "1912" "0" "c.1912T>C" "r.(?)" "p.(Ser638Pro)" "" "0000996733" "00018389" "30" "1528" "0" "1528" "0" "c.1528C>T" "r.(?)" "p.(Pro510Ser)" "" "0000996734" "00018389" "30" "982" "0" "982" "0" "c.982T>C" "r.(?)" "p.(Tyr328His)" "" "0000996735" "00018389" "30" "854" "0" "854" "0" "c.854G>A" "r.(?)" "p.(Arg285Gln)" "" "0001014389" "00018389" "50" "4334" "0" "4336" "0" "c.4334_4336del" "r.(?)" "p.(Gln1445del)" "" "0001025440" "00018389" "70" "2938" "0" "2938" "0" "c.2938G>A" "r.(?)" "p.(Gly980Arg)" "" "0001025441" "00018389" "50" "1762" "0" "1762" "0" "c.1762G>T" "r.(?)" "p.(Asp588Tyr)" "" "0001036571" "00018389" "50" "4483" "0" "4483" "0" "c.4483A>T" "r.(?)" "p.(Lys1495*)" "" "0001036572" "00018389" "50" "4205" "0" "4205" "0" "c.4205C>G" "r.(?)" "p.(Ser1402Cys)" "" "0001036573" "00018389" "50" "4105" "0" "4105" "0" "c.4105T>C" "r.(?)" "p.(Tyr1369His)" "" "0001036574" "00018389" "50" "3937" "0" "3937" "0" "c.3937T>C" "r.(?)" "p.(Ser1313Pro)" "" "0001036575" "00018389" "70" "3846" "0" "3846" "0" "c.3846C>A" "r.(?)" "p.(Asn1282Lys)" "" "0001036576" "00018389" "50" "3142" "0" "3142" "0" "c.3142G>A" "r.(?)" "p.(Gly1048Arg)" "" "0001036577" "00018389" "50" "2809" "0" "2819" "0" "c.2809_2819del" "r.(?)" "p.(Gln937Ilefs*17)" "" "0001036578" "00018389" "50" "2429" "0" "2429" "0" "c.2429del" "r.(?)" "p.(Leu810Argfs*9)" "" "0001036579" "00018389" "30" "1684" "0" "1684" "0" "c.1684G>A" "r.(?)" "p.(Ala562Thr)" "" "0001036580" "00018389" "50" "1283" "0" "1283" "0" "c.1283T>G" "r.(?)" "p.(Leu428*)" "" "0001036581" "00018389" "10" "428" "0" "428" "0" "c.428T>C" "r.(?)" "p.(Ile143Thr)" "" "0001052719" "00018389" "30" "4586" "0" "4586" "0" "c.4586G>A" "r.(?)" "p.(Arg1529His)" "" "0001052720" "00018389" "30" "3215" "0" "3215" "0" "c.3215T>C" "r.(?)" "p.(Leu1072Pro)" "" "0001052721" "00018389" "50" "1667" "0" "1667" "0" "c.1667T>C" "r.(?)" "p.(Leu556Pro)" "" "0001052722" "00018389" "50" "1308" "0" "1308" "0" "c.1308G>A" "r.(?)" "p.(Trp436*)" "" "0001052723" "00018389" "50" "730" "0" "730" "0" "c.730del" "r.(?)" "p.(His244Metfs*23)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000398830" "0000831235" "0000398830" "0000831236" "0000398931" "0000831233" "0000398931" "0000831234" "0000446053" "0000954263"