### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DAAM2) # 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}}" "DAAM2" "dishevelled associated activator of morphogenesis 2" "6" "p21.1" "unknown" "NC_000006.11" "UD_136022137982" "" "https://www.LOVD.nl/DAAM2" "" "1" "18143" "23500" "606627" "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/DAAM2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-11-30 18:48:08" "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}}" "00006070" "DAAM2" "transcript variant 1" "001" "NM_001201427.1" "" "NP_001188356.1" "" "" "" "-139" "6047" "3207" "39760159" "39872653" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00399" "NPHS" "nephrotic syndrome (NPHS)" "" "" "" "" "" "00006" "2014-06-06 10:05:35" "00006" "2018-07-03 16:45:22" "02534" "WDSTS" "Wiedemann-Steiner syndrome" "PG" "605130" "" "thick eyebrows, synophrys and thick eyelashes with vertically narrow and down-slanting palpebral fissures.  \r\nglobal developmental delay (HP:0001263); intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); short stature (HP:0004322); no obesity (-HP:0001513); digital abnormalities (HP_0011297); hypertrichosis over their forearms, legs and back" "" "00006" "2014-09-25 23:29:40" "00006" "2023-01-03 20:54:56" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DAAM2" "00399" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00056297" "" "" "" "2" "" "01482" "{PMID:Calvel 2015:26544196}" "2-generation family, affected boy and brother (different variants/phenotypes)" "F" "" "Poland" "" "0" "" "" "" "" "00056341" "" "" "00056297" "1" "" "00006" "{PMID:Calvel 2015:26544196}" "brother of 56297" "M" "" "Poland" "" "0" "" "" "" "" "00324103" "" "" "" "1" "" "00006" "{PMID:Schneider 2020:33232676}, {DOI:Schneider 2020:10.1016/j.ajhg.2020.11.008}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "Arab" "B3174" "00324104" "" "" "" "1" "" "00006" "{PMID:Schneider 2020:33232676}, {DOI:Schneider 2020:10.1016/j.ajhg.2020.11.008}" "" "M" "yes" "" "" "0" "" "" "Arab" "B1068" "00324105" "" "" "" "1" "" "00006" "{PMID:Schneider 2020:33232676}, {DOI:Schneider 2020:10.1016/j.ajhg.2020.11.008}" "" "M" "yes" "Turkey" "" "0" "" "" "" "HN-F629" "00324106" "" "" "" "1" "" "00006" "{PMID:Schneider 2020:33232676}, {DOI:Schneider 2020:10.1016/j.ajhg.2020.11.008}" "" "M" "yes" "" "" "0" "" "" "Arab" "HN-F25" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00056297" "00198" "00056297" "02534" "00056341" "00198" "00324103" "00399" "00324104" "00399" "00324105" "00399" "00324106" "00399" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00399, 02534 ## Count = 7 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Growth/Height_SDS}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000042920" "02534" "00056297" "01482" "Familial, autosomal dominant" "07y06m" "Intrauterine growth retardation\r\nPostnatal growth retardation\r\nShort palpebral fissures\r\nHypertelorism\r\nEpicanthus\r\nWide nasal bridge/broad nasal tip\r\nMicrognathia\r\nRib anomalies\r\nDelayed bone age\r\nConstipation\r\nLow hair line\r\nDevelopmental delay\r\nIntellectual disability\r\nHypotonia\r\nAmbiguous genitalia\r\nDiscordance between gender and karyotype\r\nAbnormal gonadal development\r\nNormal TSH, T4, GH, LH, high FSH, E2, low T levels" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000042953" "00198" "00056297" "00006" "Unknown" "" "46,XY sexual development (DSD), complete gonadal dysgenes" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000042954" "00198" "00056341" "00006" "Unknown" "" "penoscrotal hypospadias" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242684" "00399" "00324103" "00006" "Familial, autosomal recessive" "" "see paper; ..., steroid-resistant nephrotic syndrome" "" "" "" "" "" "" "" "" "" "" "" "nephrotic syndrome" "" "0000242685" "00399" "00324104" "00006" "Familial, autosomal recessive" "" "see paper; ..., steroid-resistant nephrotic syndrome" "" "" "" "" "" "" "" "" "" "" "" "nephrotic syndrome" "" "0000242686" "00399" "00324105" "00006" "Familial, autosomal recessive" "" "see paper; ..., nephrotic syndrome" "" "" "" "" "" "" "" "" "" "" "" "nephrotic syndrome" "" "0000242687" "00399" "00324106" "00006" "Familial, autosomal recessive" "" "see paper; ..., steroid-resistant nephrotic syndrome" "" "" "" "" "" "" "" "" "" "" "" "nephrotic syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000056291" "00056297" "1" "00006" "00006" "2015-12-11 13:10:07" "" "" "arrayCGH" "DNA" "" "" "0000056292" "00056341" "1" "00006" "00006" "2015-12-11 13:34:51" "" "" "arrayCGH" "DNA" "" "" "0000325292" "00324103" "1" "00006" "00006" "2020-11-30 19:34:13" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000325293" "00324104" "1" "00006" "00006" "2020-11-30 19:34:13" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000325294" "00324105" "1" "00006" "00006" "2020-11-30 19:34:13" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000325295" "00324106" "1" "00006" "00006" "2020-11-30 19:34:13" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000325292" "DAAM2" "0000325293" "DAAM2" "0000325294" "DAAM2" "0000325295" "DAAM2" ## 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 = 81 "{{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}}" "0000086528" "21" "70" "6" "39830072" "39997620" "" "0" "00006" "DAAM2_000001" "g.(?_39830072)_(39997620_?)dup" "" "{PMID:Calvel 2015:26544196}" "" "" "167 kb duplication; DAAM2 variant might be associated with DSD phenotype" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000086529" "21" "70" "6" "39830072" "39997620" "" "0" "00006" "DAAM2_000001" "g.(?_39830072)_(39997620_?)dup" "" "{PMID:Calvel 2015:26544196}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000246472" "0" "10" "6" "39881102" "39881102" "subst" "0.063514" "02330" "MOCS1_000012" "g.39881102A>T" "" "" "" "MOCS1(NM_005943.6):c.716T>A (p.L239H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39913358A>T" "" "benign" "" "0000249542" "0" "30" "6" "39902170" "39902170" "subst" "9.70273E-5" "02325" "MOCS1_000026" "g.39902170A>G" "" "" "" "MOCS1(NM_001075098.4):c.-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39934431A>G" "" "likely benign" "" "0000279851" "0" "50" "6" "39883911" "39883911" "subst" "3.66038E-5" "02330" "MOCS1_000006" "g.39883911G>A" "" "" "" "MOCS1(NM_005943.6):c.484C>T (p.R162W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39916167G>A" "" "VUS" "" "0000279852" "0" "10" "6" "39881509" "39881509" "subst" "0.00601274" "02330" "MOCS1_000004" "g.39881509C>G" "" "" "" "MOCS1(NM_005943.6):c.645+9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39913765C>G" "" "benign" "" "0000282563" "0" "30" "6" "39876860" "39876860" "subst" "4.0622E-6" "02325" "MOCS1_000001" "g.39876860T>C" "" "" "" "MOCS1(NM_005943.6):c.1121A>G (p.Q374R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39909084T>C" "" "likely benign" "" "0000282564" "0" "30" "6" "39895263" "39895263" "subst" "0.00228409" "02325" "MOCS1_000010" "g.39895263C>T" "" "" "" "MOCS1(NM_005943.5):c.55G>A (p.G19S), MOCS1(NM_005943.6):c.55G>A (p.G19S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39927524C>T" "" "likely benign" "" "0000283702" "0" "90" "6" "39893421" "39893421" "subst" "4.49038E-5" "02329" "MOCS1_000007" "g.39893421C>T" "" "" "" "MOCS1(NM_001358530.2):c.418+1G>A, MOCS1(NM_005943.6):c.418+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39925677C>T" "" "pathogenic" "" "0000291923" "0" "30" "6" "39895263" "39895263" "subst" "0.00228409" "01943" "MOCS1_000010" "g.39895263C>T" "" "" "" "MOCS1(NM_005943.5):c.55G>A (p.G19S), MOCS1(NM_005943.6):c.55G>A (p.G19S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39927524C>T" "" "likely benign" "" "0000331005" "0" "50" "6" "39869689" "39869689" "subst" "0.000192344" "01804" "DAAM2_000003" "g.39869689C>T" "" "" "" "DAAM2(NM_001201427.1):c.3083C>T (p.(Ser1028Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39901913C>T" "" "VUS" "" "0000331007" "0" "50" "6" "39880751" "39880751" "subst" "0.000134116" "01804" "MOCS1_000003" "g.39880751G>A" "" "" "" "MOCS1(NM_001075098.3):c.758-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39913007G>A" "" "VUS" "" "0000331008" "0" "50" "6" "39881511" "39881511" "subst" "0.000142164" "01804" "MOCS1_000005" "g.39881511G>A" "" "" "" "MOCS1(NM_001075098.3):c.645+7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39913767G>A" "" "VUS" "" "0000331010" "0" "50" "6" "39895162" "39895162" "subst" "4.1085E-6" "01804" "MOCS1_000009" "g.39895162C>G" "" "" "" "MOCS1(NM_001075098.3):c.156G>C (p.(Glu52Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39927423C>G" "" "VUS" "" "0000337975" "0" "70" "6" "39893421" "39893421" "subst" "4.49038E-5" "02327" "MOCS1_000007" "g.39893421C>T" "" "" "" "MOCS1(NM_001358530.2):c.418+1G>A, MOCS1(NM_005943.6):c.418+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39925677C>T" "" "likely pathogenic" "" "0000345678" "0" "70" "6" "39893463" "39893463" "subst" "5.7033E-5" "02327" "MOCS1_000011" "g.39893463C>T" "" "" "" "MOCS1(NM_005943.6):c.377G>A (p.G126D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39925719C>T" "" "likely pathogenic" "" "0000351167" "0" "30" "6" "39838114" "39838114" "subst" "0" "02327" "DAAM2_000004" "g.39838114A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39870338A>G" "" "likely benign" "" "0000528800" "0" "30" "6" "39846016" "39846016" "subst" "0.00135658" "01804" "DAAM2_000005" "g.39846016C>G" "" "" "" "DAAM2(NM_001201427.1):c.1339C>G (p.(Gln447Glu)), DAAM2(NM_001201427.2):c.1339C>G (p.Q447E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39878240C>G" "" "likely benign" "" "0000528801" "0" "30" "6" "39865007" "39865007" "subst" "0.00383456" "01804" "DAAM2_000006" "g.39865007T>C" "" "" "" "DAAM2(NM_001201427.1):c.2567T>C (p.(Ile856Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39897231T>C" "" "likely benign" "" "0000528802" "0" "30" "6" "39877666" "39877666" "subst" "0.00045966" "02326" "MOCS1_000017" "g.39877666G>A" "" "" "" "MOCS1(NM_005943.5):c.1015C>T (p.R339W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39909922G>A" "" "likely benign" "" "0000528803" "0" "30" "6" "39880617" "39880617" "subst" "0.000666001" "02326" "MOCS1_000018" "g.39880617C>T" "" "" "" "MOCS1(NM_005943.5):c.870+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39912873C>T" "" "likely benign" "" "0000528804" "0" "30" "6" "39880653" "39880653" "subst" "0.000779657" "02326" "MOCS1_000019" "g.39880653C>T" "" "" "" "MOCS1(NM_005943.5):c.853G>A (p.E285K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39912909C>T" "" "likely benign" "" "0000528805" "0" "10" "6" "39881120" "39881120" "subst" "0.0397708" "02330" "MOCS1_000020" "g.39881120G>A" "" "" "" "MOCS1(NM_005943.6):c.698C>T (p.A233V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39913376G>A" "" "benign" "" "0000528806" "0" "10" "6" "39883802" "39883802" "subst" "0.0684216" "02330" "MOCS1_000021" "g.39883802A>T" "" "" "" "MOCS1(NM_005943.6):c.583+10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39916058A>T" "" "benign" "" "0000528807" "0" "10" "6" "39883806" "39883806" "subst" "0.00754654" "02330" "MOCS1_000022" "g.39883806G>A" "" "" "" "MOCS1(NM_005943.6):c.583+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39916062G>A" "" "benign" "" "0000528808" "0" "30" "6" "39883846" "39883846" "subst" "0" "01943" "MOCS1_000023" "g.39883846C>A" "" "" "" "MOCS1(NM_005943.5):c.549G>T (p.V183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39916102C>A" "" "likely benign" "" "0000528809" "0" "50" "6" "39883940" "39883940" "subst" "0.000321329" "02325" "MOCS1_000024" "g.39883940C>T" "" "" "" "MOCS1(NM_005943.6):c.455G>A (p.G152D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39916196C>T" "" "VUS" "" "0000528810" "0" "90" "6" "39893421" "39893421" "subst" "4.49038E-5" "02325" "MOCS1_000007" "g.39893421C>T" "" "" "" "MOCS1(NM_001358530.2):c.418+1G>A, MOCS1(NM_005943.6):c.418+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39925677C>T" "" "pathogenic" "" "0000528811" "0" "90" "6" "39893463" "39893463" "subst" "5.7033E-5" "02325" "MOCS1_000011" "g.39893463C>T" "" "" "" "MOCS1(NM_005943.6):c.377G>A (p.G126D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39925719C>T" "" "pathogenic" "" "0000528812" "0" "10" "6" "39893510" "39893510" "subst" "0.00621237" "02330" "MOCS1_000025" "g.39893510G>A" "" "" "" "MOCS1(NM_005943.6):c.330C>T (p.L110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39925766G>A" "" "benign" "" "0000610345" "0" "30" "6" "39881098" "39881098" "subst" "0.000113742" "01943" "MOCS1_000027" "g.39881098G>C" "" "" "" "MOCS1(NM_005943.5):c.720C>G (p.P240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39913354G>C" "" "likely benign" "" "0000689731" "0" "50" "6" "39864627" "39864627" "subst" "0.000110346" "01943" "DAAM2_000018" "g.39864627G>A" "" "" "" "DAAM2(NM_015345.3):c.2381G>A (p.R794H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000708265" "1" "90" "6" "39832783" "39832783" "subst" "4.24982E-6" "00006" "DAAM2_000019" "g.39832783G>C" "" "{PMID:Schneider 2020:33232676}, {DOI:Schneider 2020:10.1016/j.ajhg.2020.11.008}" "" "" "" "Germline" "" "" "0" "" "" "g.39865007G>C" "" "pathogenic (recessive)" "" "0000708266" "3" "90" "6" "39839308" "39839308" "subst" "0.000291429" "00006" "DAAM2_000020" "g.39839308G>A" "" "{PMID:Schneider 2020:33232676}, {DOI:Schneider 2020:10.1016/j.ajhg.2020.11.008}" "" "" "" "Germline" "" "" "0" "" "" "g.39871532G>A" "" "pathogenic (recessive)" "" "0000708267" "3" "90" "6" "39846010" "39846010" "subst" "0" "00006" "DAAM2_000021" "g.39846010C>T" "" "{PMID:Schneider 2020:33232676}, {DOI:Schneider 2020:10.1016/j.ajhg.2020.11.008}" "" "" "" "Germline" "" "" "0" "" "" "g.39878234C>T" "" "pathogenic (recessive)" "" "0000708268" "3" "90" "6" "39869689" "39869689" "subst" "0.000192344" "00006" "DAAM2_000003" "g.39869689C>T" "" "{PMID:Schneider 2020:33232676}, {DOI:Schneider 2020:10.1016/j.ajhg.2020.11.008}" "" "NM_015345.3:c.3080C>T" "" "Germline" "" "" "0" "" "" "g.39901913C>T" "" "pathogenic (recessive)" "" "0000708269" "2" "70" "6" "39847153" "39847153" "subst" "0.00156246" "00006" "DAAM2_000022" "g.39847153C>A" "" "{PMID:Schneider 2020:33232676}, {DOI:Schneider 2020:10.1016/j.ajhg.2020.11.008}" "" "" "" "Germline" "" "" "0" "" "" "g.39879377C>A" "" "likely pathogenic (recessive)" "" "0000720928" "0" "50" "6" "39893446" "39893446" "subst" "0.000297452" "01943" "MOCS1_000008" "g.39893446G>A" "" "" "" "MOCS1(NM_005943.5):c.394C>T (p.R132W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720929" "0" "50" "6" "39893576" "39893576" "subst" "0.000220722" "01943" "DAAM2_000023" "g.39893576C>T" "" "" "" "MOCS1(NM_001358534.1):c.3G>A (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720930" "0" "50" "6" "39895101" "39895101" "subst" "6.93713E-5" "01943" "DAAM2_000024" "g.39895101G>A" "" "" "" "MOCS1(NM_001358530.2):c.217C>T (p.(Arg73Trp)), MOCS1(NM_005943.5):c.217C>T (p.R73W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802587" "0" "30" "6" "39893441" "39893441" "subst" "7.7436E-5" "01943" "DAAM2_000025" "g.39893441C>T" "" "" "" "MOCS1(NM_005943.5):c.399G>A (p.P133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802588" "0" "30" "6" "39902020" "39902020" "subst" "0.00130958" "02326" "DAAM2_000026" "g.39902020C>T" "" "" "" "MOCS1(NM_001075098.4):c.123+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851226" "0" "10" "6" "39832264" "39832264" "subst" "0.00166984" "02326" "DAAM2_000027" "g.39832264G>A" "" "" "" "DAAM2(NM_001201427.2):c.314G>A (p.R105H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851227" "0" "30" "6" "39835372" "39835372" "subst" "0.00198321" "02326" "DAAM2_000028" "g.39835372G>A" "" "" "" "DAAM2(NM_001201427.2):c.515G>A (p.R172H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851228" "0" "10" "6" "39869783" "39869783" "subst" "0.00338427" "02326" "DAAM2_000033" "g.39869783G>T" "" "" "" "DAAM2(NM_001201427.2):c.3177G>T (p.R1059=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860339" "0" "30" "6" "39835407" "39835407" "subst" "0.000170607" "02326" "DAAM2_000029" "g.39835407T>C" "" "" "" "DAAM2(NM_001201427.2):c.550T>C (p.L184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860340" "0" "10" "6" "39847126" "39847126" "subst" "0.00318626" "02326" "DAAM2_000030" "g.39847126C>T" "" "" "" "DAAM2(NM_001201427.2):c.1718C>T (p.P573L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860341" "0" "30" "6" "39847207" "39847207" "subst" "0.00209154" "02326" "DAAM2_000031" "g.39847207A>G" "" "" "" "DAAM2(NM_001201427.2):c.1799A>G (p.Q600R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860342" "0" "30" "6" "39856489" "39856489" "subst" "0.000812315" "02326" "DAAM2_000032" "g.39856489A>G" "" "" "" "DAAM2(NM_001201427.2):c.2095A>G (p.I699V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860343" "0" "50" "6" "39874293" "39874293" "subst" "0.000155708" "01943" "DAAM2_000034" "g.39874293C>T" "" "" "" "MOCS1(NM_001075098.3):c.*608G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860344" "0" "30" "6" "39893483" "39893483" "subst" "0.000228138" "01943" "DAAM2_000035" "g.39893483G>A" "" "" "" "MOCS1(NM_005943.5):c.357C>T (p.I119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887238" "0" "30" "6" "39824129" "39824129" "subst" "0.000918707" "02326" "DAAM2_000036" "g.39824129C>T" "" "" "" "DAAM2(NM_001201427.2):c.51C>T (p.F17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887239" "0" "30" "6" "39843236" "39843236" "subst" "9.3749E-5" "02326" "DAAM2_000037" "g.39843236C>T" "" "" "" "DAAM2(NM_001201427.2):c.1293C>T (p.I431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887240" "0" "30" "6" "39846016" "39846016" "subst" "0.00135658" "02326" "DAAM2_000005" "g.39846016C>G" "" "" "" "DAAM2(NM_001201427.1):c.1339C>G (p.(Gln447Glu)), DAAM2(NM_001201427.2):c.1339C>G (p.Q447E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887241" "0" "50" "6" "39851798" "39851798" "subst" "2.84882E-5" "02326" "DAAM2_000038" "g.39851798G>T" "" "" "" "DAAM2(NM_001201427.2):c.1906G>T (p.D636Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887242" "0" "30" "6" "39866711" "39866711" "subst" "0.000153937" "02326" "DAAM2_000039" "g.39866711G>C" "" "" "" "DAAM2(NM_001201427.2):c.2677G>C (p.V893L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887243" "0" "30" "6" "39869101" "39869101" "subst" "8.12645E-5" "02326" "DAAM2_000040" "g.39869101C>T" "" "" "" "DAAM2(NM_001201427.2):c.2835C>T (p.F945=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887244" "0" "30" "6" "39869585" "39869585" "subst" "0.000428187" "02326" "DAAM2_000041" "g.39869585G>A" "" "" "" "DAAM2(NM_001201427.2):c.2983-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912513" "0" "10" "6" "39843188" "39843188" "subst" "0.00185298" "02326" "DAAM2_000042" "g.39843188T>C" "" "" "" "DAAM2(NM_001201427.2):c.1245T>C (p.G415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912514" "0" "30" "6" "39847153" "39847153" "subst" "0.00156246" "02326" "DAAM2_000022" "g.39847153C>A" "" "" "" "DAAM2(NM_001201427.2):c.1745C>A (p.P582H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912515" "0" "30" "6" "39856551" "39856551" "subst" "0.000183754" "02326" "DAAM2_000043" "g.39856551C>T" "" "" "" "DAAM2(NM_001201427.2):c.2145+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912516" "0" "10" "6" "39864764" "39864764" "subst" "0.00271262" "02326" "DAAM2_000044" "g.39864764C>T" "" "" "" "DAAM2(NM_001201427.2):c.2510+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912517" "0" "30" "6" "39866692" "39866692" "subst" "0.000209311" "02326" "DAAM2_000045" "g.39866692G>A" "" "" "" "DAAM2(NM_001201427.2):c.2658G>A (p.R886=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912518" "0" "30" "6" "39867968" "39867968" "subst" "0.00221581" "02326" "DAAM2_000046" "g.39867968A>G" "" "" "" "DAAM2(NM_001201427.2):c.2795A>G (p.N932S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912519" "0" "30" "6" "39869235" "39869235" "subst" "0.00151052" "02326" "DAAM2_000002" "g.39869235G>T" "" "" "" "DAAM2(NM_001201427.2):c.2969G>T (p.R990L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912520" "0" "30" "6" "39869581" "39869581" "subst" "0.000373316" "02326" "DAAM2_000047" "g.39869581G>A" "" "" "" "DAAM2(NM_001201427.2):c.2983-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924506" "0" "30" "6" "39859415" "39859415" "subst" "0.00123354" "02326" "DAAM2_000048" "g.39859415A>G" "" "" "" "DAAM2(NM_001201427.2):c.2258A>G (p.D753G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924507" "0" "30" "6" "39869580" "39869580" "subst" "0.00100808" "02326" "DAAM2_000049" "g.39869580C>T" "" "" "" "DAAM2(NM_001201427.2):c.2983-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924508" "0" "30" "6" "39869766" "39869766" "subst" "0.000207873" "02326" "DAAM2_000050" "g.39869766G>A" "" "" "" "DAAM2(NM_001201427.2):c.3160G>A (p.A1054T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929190" "0" "30" "6" "39851742" "39851742" "subst" "0.00113675" "02326" "DAAM2_000051" "g.39851742G>A" "" "" "" "DAAM2(NM_001201427.2):c.1850G>A (p.R617H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977229" "0" "50" "6" "39874453" "39874453" "subst" "0" "01804" "DAAM2_000055" "g.39874453C>T" "" "" "" "MOCS1(NM_001358530.2):c.1591G>A (p.(Asp531Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977230" "0" "50" "6" "39880632" "39880632" "subst" "0" "01804" "DAAM2_000056" "g.39880632T>C" "" "" "" "MOCS1(NM_001358530.2):c.870+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977231" "0" "50" "6" "39895122" "39895122" "subst" "4.08E-5" "01804" "DAAM2_000057" "g.39895122C>T" "" "" "" "MOCS1(NM_001358530.2):c.196G>A (p.(Gly66Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995749" "0" "50" "6" "39881541" "39881541" "subst" "1.21841E-5" "01804" "DAAM2_000058" "g.39881541C>T" "" "" "" "MOCS1(NM_005943.5):c.622G>A (p.(Glu208Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035755" "0" "50" "6" "39835482" "39835482" "subst" "0.000158453" "01804" "DAAM2_000059" "g.39835482C>G" "" "" "" "DAAM2(NM_001201427.2):c.625C>G (p.(Arg209Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035756" "0" "50" "6" "39847094" "39847094" "subst" "0.000150636" "01804" "DAAM2_000060" "g.39847094C>A" "" "" "" "DAAM2(NM_001201427.2):c.1686C>A (p.(Pro562=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035757" "0" "30" "6" "39847198" "39847198" "subst" "0.00058193" "01804" "DAAM2_000061" "g.39847198G>C" "" "" "" "DAAM2(NM_001201427.2):c.1790G>C (p.(Arg597Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035758" "0" "50" "6" "39881089" "39881089" "subst" "0" "01804" "DAAM2_000062" "g.39881089C>T" "" "" "" "MOCS1(NM_001358530.2):c.729G>A (p.(Val243=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052340" "0" "50" "6" "39881535" "39881535" "subst" "0.00015433" "01804" "DAAM2_000063" "g.39881535C>T" "" "" "" "MOCS1(NM_001358530.2):c.628G>A (p.(Gly210Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052341" "0" "90" "6" "39893421" "39893421" "subst" "4.49038E-5" "01804" "MOCS1_000007" "g.39893421C>T" "" "" "" "MOCS1(NM_001358530.2):c.418+1G>A, MOCS1(NM_005943.6):c.418+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001052342" "0" "90" "6" "39895101" "39895101" "subst" "6.93713E-5" "01804" "DAAM2_000024" "g.39895101G>A" "" "" "" "MOCS1(NM_001358530.2):c.217C>T (p.(Arg73Trp)), MOCS1(NM_005943.5):c.217C>T (p.R73W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 DAAM2 ## Count = 81 "{{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}}" "0000086528" "00006070" "70" "258" "1279" "3208" "0" "c.(?_258+1279)_(*1_?)dup" "r.?" "p.?" "" "0000086529" "00006070" "70" "258" "1279" "3208" "0" "c.(?_258+1279)_(*1_?)dup" "r.?" "p.?" "" "0000246472" "00006070" "10" "14496" "0" "14496" "0" "c.*11289A>T" "r.(=)" "p.(=)" "" "0000249542" "00006070" "30" "35564" "0" "35564" "0" "c.*32357A>G" "r.(=)" "p.(=)" "" "0000279851" "00006070" "50" "17305" "0" "17305" "0" "c.*14098G>A" "r.(=)" "p.(=)" "" "0000279852" "00006070" "10" "14903" "0" "14903" "0" "c.*11696C>G" "r.(=)" "p.(=)" "" "0000282563" "00006070" "30" "10254" "0" "10254" "0" "c.*7047T>C" "r.(=)" "p.(=)" "" "0000282564" "00006070" "30" "28657" "0" "28657" "0" "c.*25450C>T" "r.(=)" "p.(=)" "" "0000283702" "00006070" "90" "26815" "0" "26815" "0" "c.*23608C>T" "r.(=)" "p.(=)" "" "0000291923" "00006070" "30" "28657" "0" "28657" "0" "c.*25450C>T" "r.(=)" "p.(=)" "" "0000331005" "00006070" "50" "3083" "0" "3083" "0" "c.3083C>T" "r.(?)" "p.(Ser1028Leu)" "" "0000331007" "00006070" "50" "14145" "0" "14145" "0" "c.*10938G>A" "r.(=)" "p.(=)" "" "0000331008" "00006070" "50" "14905" "0" "14905" "0" "c.*11698G>A" "r.(=)" "p.(=)" "" "0000331010" "00006070" "50" "28556" "0" "28556" "0" "c.*25349C>G" "r.(=)" "p.(=)" "" "0000337975" "00006070" "70" "26815" "0" "26815" "0" "c.*23608C>T" "r.(=)" "p.(=)" "" "0000345678" "00006070" "70" "26857" "0" "26857" "0" "c.*23650C>T" "r.(=)" "p.(=)" "" "0000351167" "00006070" "30" "874" "-2" "874" "-2" "c.874-2A>G" "r.spl?" "p.?" "" "0000528800" "00006070" "30" "1339" "0" "1339" "0" "c.1339C>G" "r.(?)" "p.(Gln447Glu)" "" "0000528801" "00006070" "30" "2567" "0" "2567" "0" "c.2567T>C" "r.(?)" "p.(Ile856Thr)" "" "0000528802" "00006070" "30" "11060" "0" "11060" "0" "c.*7853G>A" "r.(=)" "p.(=)" "" "0000528803" "00006070" "30" "14011" "0" "14011" "0" "c.*10804C>T" "r.(=)" "p.(=)" "" "0000528804" "00006070" "30" "14047" "0" "14047" "0" "c.*10840C>T" "r.(=)" "p.(=)" "" "0000528805" "00006070" "10" "14514" "0" "14514" "0" "c.*11307G>A" "r.(=)" "p.(=)" "" "0000528806" "00006070" "10" "17196" "0" "17196" "0" "c.*13989A>T" "r.(=)" "p.(=)" "" "0000528807" "00006070" "10" "17200" "0" "17200" "0" "c.*13993G>A" "r.(=)" "p.(=)" "" "0000528808" "00006070" "30" "17240" "0" "17240" "0" "c.*14033C>A" "r.(=)" "p.(=)" "" "0000528809" "00006070" "50" "17334" "0" "17334" "0" "c.*14127C>T" "r.(=)" "p.(=)" "" "0000528810" "00006070" "90" "26815" "0" "26815" "0" "c.*23608C>T" "r.(=)" "p.(=)" "" "0000528811" "00006070" "90" "26857" "0" "26857" "0" "c.*23650C>T" "r.(=)" "p.(=)" "" "0000528812" "00006070" "10" "26904" "0" "26904" "0" "c.*23697G>A" "r.(=)" "p.(=)" "" "0000610345" "00006070" "30" "14492" "0" "14492" "0" "c.*11285G>C" "r.(=)" "p.(=)" "" "0000689731" "00006070" "50" "2381" "0" "2381" "0" "c.2381G>A" "r.(?)" "p.(Arg794His)" "" "0000708265" "00006070" "90" "361" "0" "361" "0" "c.361G>C" "r.(?)" "p.(Glu121Gln)" "5" "0000708266" "00006070" "90" "1004" "0" "1004" "0" "c.1004G>A" "r.(?)" "p.(Arg335Gln)" "9" "0000708267" "00006070" "90" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445*)" "12" "0000708268" "00006070" "90" "3083" "0" "3083" "0" "c.3083C>T" "r.(?)" "p.(Ser1028Leu)" "25" "0000708269" "00006070" "70" "1745" "0" "1745" "0" "c.1745C>A" "r.(?)" "p.(Pro582His)" "14" "0000720928" "00006070" "50" "26840" "0" "26840" "0" "c.*23633G>A" "r.(=)" "p.(=)" "" "0000720929" "00006070" "50" "26970" "0" "26970" "0" "c.*23763C>T" "r.(=)" "p.(=)" "" "0000720930" "00006070" "50" "28495" "0" "28495" "0" "c.*25288G>A" "r.(=)" "p.(=)" "" "0000802587" "00006070" "30" "26835" "0" "26835" "0" "c.*23628C>T" "r.(=)" "p.(=)" "" "0000802588" "00006070" "30" "35414" "0" "35414" "0" "c.*32207C>T" "r.(=)" "p.(=)" "" "0000851226" "00006070" "10" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Arg105His)" "" "0000851227" "00006070" "30" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Arg172His)" "" "0000851228" "00006070" "10" "3177" "0" "3177" "0" "c.3177G>T" "r.(?)" "p.(Arg1059=)" "" "0000860339" "00006070" "30" "550" "0" "550" "0" "c.550T>C" "r.(?)" "p.(Leu184=)" "" "0000860340" "00006070" "10" "1718" "0" "1718" "0" "c.1718C>T" "r.(?)" "p.(Pro573Leu)" "" "0000860341" "00006070" "30" "1799" "0" "1799" "0" "c.1799A>G" "r.(?)" "p.(Gln600Arg)" "" "0000860342" "00006070" "30" "2095" "0" "2095" "0" "c.2095A>G" "r.(?)" "p.(Ile699Val)" "" "0000860343" "00006070" "50" "7687" "0" "7687" "0" "c.*4480C>T" "r.(=)" "p.(=)" "" "0000860344" "00006070" "30" "26877" "0" "26877" "0" "c.*23670G>A" "r.(=)" "p.(=)" "" "0000887238" "00006070" "30" "51" "0" "51" "0" "c.51C>T" "r.(?)" "p.(Phe17=)" "" "0000887239" "00006070" "30" "1293" "0" "1293" "0" "c.1293C>T" "r.(?)" "p.(Ile431=)" "" "0000887240" "00006070" "30" "1339" "0" "1339" "0" "c.1339C>G" "r.(?)" "p.(Gln447Glu)" "" "0000887241" "00006070" "50" "1906" "0" "1906" "0" "c.1906G>T" "r.(?)" "p.(Asp636Tyr)" "" "0000887242" "00006070" "30" "2677" "0" "2677" "0" "c.2677G>C" "r.(?)" "p.(Val893Leu)" "" "0000887243" "00006070" "30" "2835" "0" "2835" "0" "c.2835C>T" "r.(?)" "p.(Phe945=)" "" "0000887244" "00006070" "30" "2983" "-4" "2983" "-4" "c.2983-4G>A" "r.spl?" "p.?" "" "0000912513" "00006070" "10" "1245" "0" "1245" "0" "c.1245T>C" "r.(?)" "p.(Gly415=)" "" "0000912514" "00006070" "30" "1745" "0" "1745" "0" "c.1745C>A" "r.(?)" "p.(Pro582His)" "" "0000912515" "00006070" "30" "2145" "12" "2145" "12" "c.2145+12C>T" "r.(=)" "p.(=)" "" "0000912516" "00006070" "10" "2510" "8" "2510" "8" "c.2510+8C>T" "r.(=)" "p.(=)" "" "0000912517" "00006070" "30" "2658" "0" "2658" "0" "c.2658G>A" "r.(?)" "p.(Arg886=)" "" "0000912518" "00006070" "30" "2795" "0" "2795" "0" "c.2795A>G" "r.(?)" "p.(Asn932Ser)" "" "0000912519" "00006070" "30" "2969" "0" "2969" "0" "c.2969G>T" "r.(?)" "p.(Arg990Leu)" "" "0000912520" "00006070" "30" "2983" "-8" "2983" "-8" "c.2983-8G>A" "r.(=)" "p.(=)" "" "0000924506" "00006070" "30" "2258" "0" "2258" "0" "c.2258A>G" "r.(?)" "p.(Asp753Gly)" "" "0000924507" "00006070" "30" "2983" "-9" "2983" "-9" "c.2983-9C>T" "r.(=)" "p.(=)" "" "0000924508" "00006070" "30" "3160" "0" "3160" "0" "c.3160G>A" "r.(?)" "p.(Ala1054Thr)" "" "0000929190" "00006070" "30" "1850" "0" "1850" "0" "c.1850G>A" "r.(?)" "p.(Arg617His)" "" "0000977229" "00006070" "50" "7847" "0" "7847" "0" "c.*4640C>T" "r.(=)" "p.(=)" "" "0000977230" "00006070" "50" "14026" "0" "14026" "0" "c.*10819T>C" "r.(=)" "p.(=)" "" "0000977231" "00006070" "50" "28516" "0" "28516" "0" "c.*25309C>T" "r.(=)" "p.(=)" "" "0000995749" "00006070" "50" "14935" "0" "14935" "0" "c.*11728C>T" "r.(=)" "p.(=)" "" "0001035755" "00006070" "50" "625" "0" "625" "0" "c.625C>G" "r.(?)" "p.(Arg209Gly)" "" "0001035756" "00006070" "50" "1686" "0" "1686" "0" "c.1686C>A" "r.(?)" "p.(=)" "" "0001035757" "00006070" "30" "1790" "0" "1790" "0" "c.1790G>C" "r.(?)" "p.(Arg597Pro)" "" "0001035758" "00006070" "50" "14483" "0" "14483" "0" "c.*11276C>T" "r.(=)" "p.(=)" "" "0001052340" "00006070" "50" "14929" "0" "14929" "0" "c.*11722C>T" "r.(=)" "p.(=)" "" "0001052341" "00006070" "90" "26815" "0" "26815" "0" "c.*23608C>T" "r.(=)" "p.(=)" "" "0001052342" "00006070" "90" "28495" "0" "28495" "0" "c.*25288G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000056291" "0000086528" "0000056292" "0000086529" "0000325292" "0000708265" "0000325292" "0000708269" "0000325293" "0000708266" "0000325294" "0000708267" "0000325295" "0000708268"