### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FAM104A) # 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}}" "FAM104A" "family with sequence similarity 104, member A" "17" "q25.1" "unknown" "NC_000017.10" "UD_136018976579" "" "https://www.LOVD.nl/VCF1" "" "1" "25918" "84923" "0" "1" "1" "1" "1" "NOTE: gene name changed from FAM104A to VCF1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from FAM104A to VCF1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-09-18 16:46:34" "00000" "2026-01-20 18:57:21" ## 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}}" "00007528" "FAM104A" "transcript variant 2" "001" "NM_032837.2" "" "NP_116226.2" "" "" "" "-88" "2737" "561" "71228533" "71203492" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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 ## ## 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 = 56 "{{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}}" "0000248701" "0" "10" "17" "71192873" "71192873" "subst" "0.500275" "02325" "COG1_000004" "g.71192873A>G" "" "" "" "COG1(NM_018714.3):c.543A>G (p.A181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73196734A>G" "" "benign" "" "0000248864" "0" "10" "17" "71196809" "71196809" "subst" "0.521331" "02325" "COG1_000007" "g.71196809A>G" "" "" "" "COG1(NM_018714.3):c.1175A>G (p.N392S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73200670A>G" "" "benign" "" "0000253559" "0" "10" "17" "71192859" "71192859" "subst" "0.00132545" "01943" "COG1_000003" "g.71192859A>G" "" "" "" "COG1(NM_018714.2):c.529A>G (p.I177V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73196720A>G" "" "benign" "" "0000266870" "0" "30" "17" "71196139" "71196139" "subst" "0.00527781" "02325" "COG1_000001" "g.71196139C>T" "" "" "" "COG1(NM_018714.2):c.1049C>T (p.(Thr350Met)), COG1(NM_018714.3):c.1049C>T (p.T350M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73200000C>T" "" "likely benign" "" "0000266871" "0" "10" "17" "71201675" "71201675" "subst" "0.948609" "02325" "COG1_000010" "g.71201675T>C" "" "" "" "COG1(NM_018714.3):c.2383-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73205536T>C" "" "benign" "" "0000266872" "0" "10" "17" "71192663" "71192663" "subst" "0.498818" "02325" "COG1_000002" "g.71192663G>A" "" "" "" "COG1(NM_018714.3):c.333G>A (p.Q111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73196524G>A" "" "benign" "" "0000273753" "0" "10" "17" "71202837" "71202837" "subst" "0.00131223" "01943" "COG1_000012" "g.71202837T>G" "" "" "" "COG1(NM_018714.2):c.2620-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73206698T>G" "" "benign" "" "0000273754" "0" "10" "17" "71193397" "71193397" "subst" "0.000929881" "01943" "COG1_000006" "g.71193397G>T" "" "" "" "COG1(NM_018714.2):c.775G>T (p.V259L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73197258G>T" "" "benign" "" "0000325572" "0" "50" "17" "71193106" "71193106" "subst" "3.24876E-5" "01804" "COG1_000005" "g.71193106G>A" "" "" "" "COG1(NM_018714.2):c.628G>A (p.(Glu210Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73196967G>A" "" "VUS" "" "0000325574" "0" "30" "17" "71199837" "71199837" "subst" "2.03031E-5" "01804" "COG1_000009" "g.71199837G>T" "" "" "" "COG1(NM_018714.2):c.2287G>T (p.(Ala763Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73203698G>T" "" "likely benign" "" "0000325575" "0" "50" "17" "71201726" "71201726" "subst" "1.62434E-5" "01804" "COG1_000011" "g.71201726C>T" "" "" "" "COG1(NM_018714.2):c.2417C>T (p.(Ala806Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73205587C>T" "" "VUS" "" "0000325576" "0" "50" "17" "71202959" "71202965" "del" "0" "01804" "COG1_000013" "g.71202959_71202965del" "" "" "" "COG1(NM_018714.2):c.2729+3_2729+9del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73206820_73206826del" "" "VUS" "" "0000325577" "0" "50" "17" "71205863" "71205863" "subst" "0" "01804" "FAM104A_000001" "g.71205863G>C" "" "" "" "FAM104A(NM_001098832.1):c.429C>G (p.(Ser143Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73209724G>C" "" "VUS" "" "0000325578" "0" "30" "17" "71208842" "71208842" "subst" "0" "01804" "FAM104A_000002" "g.71208842A>G" "" "" "" "FAM104A(NM_001098832.1):c.359T>C (p.(Leu120Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73212703A>G" "" "likely benign" "" "0000346341" "0" "30" "17" "71204565" "71204565" "subst" "0" "02327" "COG1_000014" "g.71204565G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73208426G>A" "" "likely benign" "" "0000562925" "0" "30" "17" "71189266" "71189266" "subst" "0.0110929" "01804" "COG1_000016" "g.71189266G>C" "" "" "" "COG1(NM_018714.2):c.58G>C (p.(Ala20Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73193127G>C" "" "likely benign" "" "0000562926" "0" "50" "17" "71189295" "71189295" "subst" "0.000134544" "01943" "COG1_000017" "g.71189295G>C" "" "" "" "COG1(NM_018714.2):c.87G>C (p.E29D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73193156G>C" "" "VUS" "" "0000562927" "0" "30" "17" "71193525" "71193525" "subst" "0.00563021" "02325" "COG1_000018" "g.71193525G>C" "" "" "" "COG1(NM_018714.2):c.903G>C (p.(Gln301His)), COG1(NM_018714.3):c.903G>C (p.Q301H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73197386G>C" "" "likely benign" "" "0000562928" "0" "30" "17" "71196139" "71196139" "subst" "0.00527781" "01804" "COG1_000001" "g.71196139C>T" "" "" "" "COG1(NM_018714.2):c.1049C>T (p.(Thr350Met)), COG1(NM_018714.3):c.1049C>T (p.T350M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73200000C>T" "" "likely benign" "" "0000562930" "0" "10" "17" "71197748" "71197748" "subst" "0.521622" "02325" "COG1_000020" "g.71197748G>A" "" "" "" "COG1(NM_018714.3):c.1782G>A (p.E594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73201609G>A" "" "benign" "" "0000562932" "0" "30" "17" "71201807" "71201807" "subst" "0" "01943" "COG1_000022" "g.71201807A>C" "" "" "" "COG1(NM_018714.2):c.2498A>C (p.K833T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73205668A>C" "" "likely benign" "" "0000623753" "0" "50" "17" "71189242" "71189242" "subst" "0.000826105" "01943" "COG1_000023" "g.71189242C>T" "" "" "" "COG1(NM_018714.2):c.34C>T (p.R12W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73193103C>T" "" "VUS" "" "0000658240" "0" "30" "17" "71199854" "71199854" "subst" "0.00121413" "01943" "COG1_000024" "g.71199854A>G" "" "" "" "COG1(NM_018714.2):c.2304A>G (p.T768=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73203715A>G" "" "likely benign" "" "0000658241" "0" "30" "17" "71202836" "71202837" "del" "4.47027E-5" "01943" "COG1_000025" "g.71202836_71202837del" "" "" "" "COG1(NM_018714.2):c.2620-11_2620-10delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73206697_73206698del" "" "likely benign" "" "0000658242" "0" "30" "17" "71204547" "71204547" "subst" "0.000504008" "01943" "COG1_000026" "g.71204547C>G" "" "" "" "COG1(NM_018714.2):c.2900C>G (p.P967R, p.(Pro967Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73208408C>G" "" "likely benign" "" "0000692453" "0" "50" "17" "71189371" "71189371" "subst" "1.73668E-5" "01943" "COG1_000027" "g.71189371C>T" "" "" "" "COG1(NM_018714.2):c.163C>T (p.R55W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726649" "0" "70" "17" "71189209" "71189209" "subst" "1.68444E-5" "01943" "COG1_000028" "g.71189209A>G" "" "" "" "COG1(NM_018714.2):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000726650" "0" "50" "17" "71197990" "71197992" "del" "0" "01804" "COG1_000029" "g.71197990_71197992del" "" "" "" "COG1(NM_018714.2):c.2024_2026del (p.(Leu675del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726651" "0" "90" "17" "71202892" "71202892" "dup" "0" "02329" "COG1_000030" "g.71202892dup" "" "" "" "COG1(NM_018714.3):c.2665dupC (p.R889Pfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000808235" "0" "30" "17" "71189473" "71189473" "subst" "4.67785E-5" "01804" "COG1_000031" "g.71189473C>T" "" "" "" "COG1(NM_018714.2):c.265C>T (p.(Arg89Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808236" "0" "30" "17" "71192731" "71192731" "subst" "0.000337034" "01804" "COG1_000032" "g.71192731C>T" "" "" "" "COG1(NM_018714.2):c.401C>T (p.(Ser134Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808237" "0" "50" "17" "71192766" "71192766" "subst" "0" "01943" "COG1_000033" "g.71192766C>T" "" "" "" "COG1(NM_018714.2):c.436C>T (p.L146F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808238" "0" "50" "17" "71192866" "71192866" "subst" "0" "01804" "COG1_000034" "g.71192866A>G" "" "" "" "COG1(NM_018714.2):c.536A>G (p.(Gln179Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808239" "0" "50" "17" "71196808" "71196809" "ins" "0" "01943" "COG1_000035" "g.71196808_71196809insGT" "" "" "" "COG1(NM_018714.2):c.1174_1175insGT (p.N392Sfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808240" "0" "30" "17" "71197829" "71197829" "subst" "0" "01943" "COG1_000036" "g.71197829G>T" "" "" "" "COG1(NM_018714.2):c.1863G>T (p.L621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855078" "0" "30" "17" "71197678" "71197678" "subst" "0.0039491" "01804" "COG1_000038" "g.71197678G>A" "" "" "" "COG1(NM_018714.2):c.1712G>A (p.(Arg571Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855079" "0" "70" "17" "71199271" "71199271" "subst" "0" "01943" "COG1_000039" "g.71199271C>T" "" "" "" "COG1(NM_018714.2):c.2206C>T (p.R736*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000865480" "0" "30" "17" "71193525" "71193525" "subst" "0.00563021" "01804" "COG1_000018" "g.71193525G>C" "" "" "" "COG1(NM_018714.2):c.903G>C (p.(Gln301His)), COG1(NM_018714.3):c.903G>C (p.Q301H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865481" "0" "50" "17" "71197677" "71197677" "subst" "4.87547E-5" "01943" "COG1_000037" "g.71197677C>T" "" "" "" "COG1(NM_018714.2):c.1711C>T (p.R571W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894231" "0" "30" "17" "71199781" "71199781" "subst" "0.00103138" "01804" "COG1_000040" "g.71199781A>G" "" "" "" "COG1(NM_018714.2):c.2231A>G (p.(Tyr744Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894232" "0" "70" "17" "71203354" "71203354" "subst" "8.1215E-6" "01804" "COG1_000041" "g.71203354C>T" "" "" "" "COG1(NM_018714.2):c.2764C>T (p.(Arg922*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000894233" "0" "30" "17" "71204547" "71204547" "subst" "0.000504008" "01804" "COG1_000026" "g.71204547C>G" "" "" "" "COG1(NM_018714.2):c.2900C>G (p.P967R, p.(Pro967Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914962" "0" "30" "17" "71199822" "71199822" "subst" "1.21819E-5" "01804" "COG1_000042" "g.71199822C>G" "" "" "" "COG1(NM_018714.2):c.2272C>G (p.(Arg758Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951028" "0" "30" "17" "71204484" "71204484" "subst" "4.06141E-6" "01804" "COG1_000043" "g.71204484A>G" "" "" "" "COG1(NM_018714.2):c.2837A>G (p.(Asp946Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982756" "0" "50" "17" "71189365" "71189365" "subst" "0" "01804" "COG1_000045" "g.71189365G>A" "" "" "" "COG1(NM_018714.3):c.157G>A (p.(Gly53Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982757" "0" "50" "17" "71192890" "71192890" "subst" "8.13101E-6" "02325" "COG1_000046" "g.71192890G>A" "" "" "" "COG1(NM_018714.3):c.560G>A (p.R187Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982758" "0" "50" "17" "71196022" "71196022" "subst" "0" "01804" "COG1_000047" "g.71196022T>G" "" "" "" "COG1(NM_018714.3):c.932T>G (p.(Leu311Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982759" "0" "50" "17" "71197813" "71197814" "del" "0" "01804" "COG1_000048" "g.71197813_71197814del" "" "" "" "COG1(NM_018714.3):c.1847_1848del (p.(Arg616Thrfs*31))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982760" "0" "50" "17" "71202345" "71202345" "subst" "0" "01804" "COG1_000049" "g.71202345G>T" "" "" "" "COG1(NM_018714.3):c.2563G>T (p.(Asp855Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982761" "0" "50" "17" "71202955" "71202955" "subst" "4.06184E-6" "01804" "COG1_000050" "g.71202955A>C" "" "" "" "COG1(NM_018714.3):c.2728A>C (p.(Arg910=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042145" "0" "50" "17" "71196786" "71196786" "subst" "1.21819E-5" "01804" "COG1_000051" "g.71196786C>G" "" "" "" "COG1(NM_018714.3):c.1152C>G (p.(Asp384Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042146" "0" "50" "17" "71197816" "71197816" "subst" "8.12348E-6" "01804" "COG1_000052" "g.71197816T>C" "" "" "" "COG1(NM_018714.3):c.1850T>C (p.(Leu617Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042147" "0" "50" "17" "71201800" "71201800" "subst" "4.06095E-6" "01804" "COG1_000053" "g.71201800C>T" "" "" "" "COG1(NM_018714.3):c.2491C>T (p.(Arg831Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042148" "0" "30" "17" "71202288" "71202288" "subst" "0.000150266" "01804" "COG1_000054" "g.71202288C>G" "" "" "" "COG1(NM_018714.3):c.2511-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066873" "0" "50" "17" "71232418" "71232418" "subst" "4.06812E-5" "01804" "C17orf80_000001" "g.71232418C>T" "" "" "" "C17orf80(NM_001351264.2):c.797C>T (p.(Thr266Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066874" "0" "50" "17" "71239110" "71239110" "subst" "0.000170755" "01804" "C17orf80_000002" "g.71239110T>C" "" "" "" "C17orf80(NM_001351264.2):c.1697T>C (p.(Val566Ala))" "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 FAM104A ## Count = 56 "{{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}}" "0000248701" "00007528" "10" "13356" "0" "13356" "0" "c.*12795T>C" "r.(=)" "p.(=)" "" "0000248864" "00007528" "10" "9420" "0" "9420" "0" "c.*8859T>C" "r.(=)" "p.(=)" "" "0000253559" "00007528" "10" "13370" "0" "13370" "0" "c.*12809T>C" "r.(=)" "p.(=)" "" "0000266870" "00007528" "30" "10090" "0" "10090" "0" "c.*9529G>A" "r.(=)" "p.(=)" "" "0000266871" "00007528" "10" "4554" "0" "4554" "0" "c.*3993A>G" "r.(=)" "p.(=)" "" "0000266872" "00007528" "10" "13566" "0" "13566" "0" "c.*13005C>T" "r.(=)" "p.(=)" "" "0000273753" "00007528" "10" "3392" "0" "3392" "0" "c.*2831A>C" "r.(=)" "p.(=)" "" "0000273754" "00007528" "10" "12832" "0" "12832" "0" "c.*12271C>A" "r.(=)" "p.(=)" "" "0000325572" "00007528" "50" "13123" "0" "13123" "0" "c.*12562C>T" "r.(=)" "p.(=)" "" "0000325574" "00007528" "30" "6392" "0" "6392" "0" "c.*5831C>A" "r.(=)" "p.(=)" "" "0000325575" "00007528" "50" "4503" "0" "4503" "0" "c.*3942G>A" "r.(=)" "p.(=)" "" "0000325576" "00007528" "50" "3265" "0" "3271" "0" "c.*2704_*2710del" "r.(=)" "p.(=)" "" "0000325577" "00007528" "50" "366" "0" "366" "0" "c.366C>G" "r.(?)" "p.(Ser122Arg)" "" "0000325578" "00007528" "30" "322" "-2935" "322" "-2935" "c.322-2935T>C" "r.(=)" "p.(=)" "" "0000346341" "00007528" "30" "1664" "0" "1664" "0" "c.*1103C>T" "r.(=)" "p.(=)" "" "0000562925" "00007528" "30" "16963" "0" "16963" "0" "c.*16402C>G" "r.(=)" "p.(=)" "" "0000562926" "00007528" "50" "16934" "0" "16934" "0" "c.*16373C>G" "r.(=)" "p.(=)" "" "0000562927" "00007528" "30" "12704" "0" "12704" "0" "c.*12143C>G" "r.(=)" "p.(=)" "" "0000562928" "00007528" "30" "10090" "0" "10090" "0" "c.*9529G>A" "r.(=)" "p.(=)" "" "0000562930" "00007528" "10" "8481" "0" "8481" "0" "c.*7920C>T" "r.(=)" "p.(=)" "" "0000562932" "00007528" "30" "4422" "0" "4422" "0" "c.*3861T>G" "r.(=)" "p.(=)" "" "0000623753" "00007528" "50" "16987" "0" "16987" "0" "c.*16426G>A" "r.(=)" "p.(=)" "" "0000658240" "00007528" "30" "6375" "0" "6375" "0" "c.*5814T>C" "r.(=)" "p.(=)" "" "0000658241" "00007528" "30" "3392" "0" "3393" "0" "c.*2831_*2832del" "r.(=)" "p.(=)" "" "0000658242" "00007528" "30" "1682" "0" "1682" "0" "c.*1121G>C" "r.(=)" "p.(=)" "" "0000692453" "00007528" "50" "16858" "0" "16858" "0" "c.*16297G>A" "r.(=)" "p.(=)" "" "0000726649" "00007528" "70" "17020" "0" "17020" "0" "c.*16459T>C" "r.(=)" "p.(=)" "" "0000726650" "00007528" "50" "8241" "0" "8243" "0" "c.*7680_*7682del" "r.(=)" "p.(=)" "" "0000726651" "00007528" "90" "3342" "0" "3342" "0" "c.*2781dup" "r.(?)" "p.(=)" "" "0000808235" "00007528" "30" "16756" "0" "16756" "0" "c.*16195G>A" "r.(=)" "p.(=)" "" "0000808236" "00007528" "30" "13498" "0" "13498" "0" "c.*12937G>A" "r.(=)" "p.(=)" "" "0000808237" "00007528" "50" "13463" "0" "13463" "0" "c.*12902G>A" "r.(=)" "p.(=)" "" "0000808238" "00007528" "50" "13363" "0" "13363" "0" "c.*12802T>C" "r.(=)" "p.(=)" "" "0000808239" "00007528" "50" "9420" "0" "9421" "0" "c.*8859_*8860insAC" "r.(=)" "p.(=)" "" "0000808240" "00007528" "30" "8400" "0" "8400" "0" "c.*7839C>A" "r.(=)" "p.(=)" "" "0000855078" "00007528" "30" "8551" "0" "8551" "0" "c.*7990C>T" "r.(=)" "p.(=)" "" "0000855079" "00007528" "70" "6958" "0" "6958" "0" "c.*6397G>A" "r.(=)" "p.(=)" "" "0000865480" "00007528" "30" "12704" "0" "12704" "0" "c.*12143C>G" "r.(=)" "p.(=)" "" "0000865481" "00007528" "50" "8552" "0" "8552" "0" "c.*7991G>A" "r.(=)" "p.(=)" "" "0000894231" "00007528" "30" "6448" "0" "6448" "0" "c.*5887T>C" "r.(=)" "p.(=)" "" "0000894232" "00007528" "70" "2875" "0" "2875" "0" "c.*2314G>A" "r.(=)" "p.(=)" "" "0000894233" "00007528" "30" "1682" "0" "1682" "0" "c.*1121G>C" "r.(=)" "p.(=)" "" "0000914962" "00007528" "30" "6407" "0" "6407" "0" "c.*5846G>C" "r.(=)" "p.(=)" "" "0000951028" "00007528" "30" "1745" "0" "1745" "0" "c.*1184T>C" "r.(=)" "p.(=)" "" "0000982756" "00007528" "50" "16864" "0" "16864" "0" "c.*16303C>T" "r.(=)" "p.(=)" "" "0000982757" "00007528" "50" "13339" "0" "13339" "0" "c.*12778C>T" "r.(=)" "p.(=)" "" "0000982758" "00007528" "50" "10207" "0" "10207" "0" "c.*9646A>C" "r.(=)" "p.(=)" "" "0000982759" "00007528" "50" "8416" "0" "8417" "0" "c.*7855_*7856del" "r.(=)" "p.(=)" "" "0000982760" "00007528" "50" "3884" "0" "3884" "0" "c.*3323C>A" "r.(=)" "p.(=)" "" "0000982761" "00007528" "50" "3274" "0" "3274" "0" "c.*2713T>G" "r.(=)" "p.(=)" "" "0001042145" "00007528" "50" "9443" "0" "9443" "0" "c.*8882G>C" "r.(=)" "p.(=)" "" "0001042146" "00007528" "50" "8413" "0" "8413" "0" "c.*7852A>G" "r.(=)" "p.(=)" "" "0001042147" "00007528" "50" "4429" "0" "4429" "0" "c.*3868G>A" "r.(=)" "p.(=)" "" "0001042148" "00007528" "30" "3941" "0" "3941" "0" "c.*3380G>C" "r.(=)" "p.(=)" "" "0001066873" "00007528" "50" "-3973" "0" "-3973" "0" "c.-3973G>A" "r.(?)" "p.(=)" "" "0001066874" "00007528" "50" "-10665" "0" "-10665" "0" "c.-10665A>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0