Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.19078002C>A | CA338748137 | UBR4 | c.15298G>T (p.Val5100Phe) c.2419G>T (p.Val807Phe) c.523G>T (p.Val175Phe) n.3305G>T c.15451G>T (p.Val5151Phe) c.15448G>T (p.Val5150Phe) c.15436G>T (p.Val5146Phe) c.15433G>T (p.Val5145Phe) c.15427G>T (p.Val5143Phe) c.15418G>T (p.Val5140Phe) c.15367G>T (p.Val5123Phe) c.15364G>T (p.Val5122Phe) c.15331G>T (p.Val5111Phe) c.15328G>T (p.Val5110Phe) c.15295G>T (p.Val5099Phe) c.15565G>T (p.Val5189Phe) c.15562G>T (p.Val5188Phe) c.15550G>T (p.Val5184Phe) c.15547G>T (p.Val5183Phe) c.15541G>T (p.Val5181Phe) c.15532G>T (p.Val5178Phe) c.15481G>T (p.Val5161Phe) c.15478G>T (p.Val5160Phe) c.15445G>T (p.Val5149Phe) c.15442G>T (p.Val5148Phe) c.15409G>T (p.Val5137Phe) c.15544G>T (p.Val5182Phe) c.15517G>T (p.Val5173Phe) c.15463G>T (p.Val5155Phe) c.15430G>T (p.Val5144Phe) c.15406G>T (p.Val5136Phe) c.15358G>T (p.Val5120Phe) c.15307G>T (p.Val5103Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.19078002C= | CA1156956073 | UBR4 | c.15298G= (p.Val5100=) c.2419G= (p.Val807=) c.523G= (p.Val175=) n.3305G= c.15451G= (p.Val5151=) c.15448G= (p.Val5150=) c.15436G= (p.Val5146=) c.15433G= (p.Val5145=) c.15427G= (p.Val5143=) c.15418G= (p.Val5140=) c.15367G= (p.Val5123=) c.15364G= (p.Val5122=) c.15331G= (p.Val5111=) c.15328G= (p.Val5110=) c.15295G= (p.Val5099=) c.15565G= (p.Val5189=) c.15562G= (p.Val5188=) c.15550G= (p.Val5184=) c.15547G= (p.Val5183=) c.15541G= (p.Val5181=) c.15532G= (p.Val5178=) c.15481G= (p.Val5161=) c.15478G= (p.Val5160=) c.15445G= (p.Val5149=) c.15442G= (p.Val5148=) c.15409G= (p.Val5137=) c.15544G= (p.Val5182=) c.15517G= (p.Val5173=) c.15463G= (p.Val5155=) c.15430G= (p.Val5144=) c.15406G= (p.Val5136=) c.15358G= (p.Val5120=) c.15307G= (p.Val5103=) | |
1 | g.19078002C>G | CA338748138 | UBR4 | c.15298G>C (p.Val5100Leu) c.2419G>C (p.Val807Leu) c.523G>C (p.Val175Leu) n.3305G>C c.15451G>C (p.Val5151Leu) c.15448G>C (p.Val5150Leu) c.15436G>C (p.Val5146Leu) c.15433G>C (p.Val5145Leu) c.15427G>C (p.Val5143Leu) c.15418G>C (p.Val5140Leu) c.15367G>C (p.Val5123Leu) c.15364G>C (p.Val5122Leu) c.15331G>C (p.Val5111Leu) c.15328G>C (p.Val5110Leu) c.15295G>C (p.Val5099Leu) c.15565G>C (p.Val5189Leu) c.15562G>C (p.Val5188Leu) c.15550G>C (p.Val5184Leu) c.15547G>C (p.Val5183Leu) c.15541G>C (p.Val5181Leu) c.15532G>C (p.Val5178Leu) c.15481G>C (p.Val5161Leu) c.15478G>C (p.Val5160Leu) c.15445G>C (p.Val5149Leu) c.15442G>C (p.Val5148Leu) c.15409G>C (p.Val5137Leu) c.15544G>C (p.Val5182Leu) c.15517G>C (p.Val5173Leu) c.15463G>C (p.Val5155Leu) c.15430G>C (p.Val5144Leu) c.15406G>C (p.Val5136Leu) c.15358G>C (p.Val5120Leu) c.15307G>C (p.Val5103Leu) | COSMIC COSMIC COSMIC COSMIC COSMIC |
1 | g.19078002C>T | CA647914 | UBR4 | c.15298G>A (p.Val5100Ile) c.2419G>A (p.Val807Ile) c.523G>A (p.Val175Ile) n.3305G>A c.15451G>A (p.Val5151Ile) c.15448G>A (p.Val5150Ile) c.15436G>A (p.Val5146Ile) c.15433G>A (p.Val5145Ile) c.15427G>A (p.Val5143Ile) c.15418G>A (p.Val5140Ile) c.15367G>A (p.Val5123Ile) c.15364G>A (p.Val5122Ile) c.15331G>A (p.Val5111Ile) c.15328G>A (p.Val5110Ile) c.15295G>A (p.Val5099Ile) c.15565G>A (p.Val5189Ile) c.15562G>A (p.Val5188Ile) c.15550G>A (p.Val5184Ile) c.15547G>A (p.Val5183Ile) c.15541G>A (p.Val5181Ile) c.15532G>A (p.Val5178Ile) c.15481G>A (p.Val5161Ile) c.15478G>A (p.Val5160Ile) c.15445G>A (p.Val5149Ile) c.15442G>A (p.Val5148Ile) c.15409G>A (p.Val5137Ile) c.15544G>A (p.Val5182Ile) c.15517G>A (p.Val5173Ile) c.15463G>A (p.Val5155Ile) c.15430G>A (p.Val5144Ile) c.15406G>A (p.Val5136Ile) c.15358G>A (p.Val5120Ile) c.15307G>A (p.Val5103Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.19078003G>A | CA647915 | UBR4 | c.15297C>T (p.Leu5099=) c.2418C>T (p.Leu806=) c.522C>T (p.Leu174=) n.3304C>T c.15450C>T (p.Leu5150=) c.15447C>T (p.Leu5149=) c.15435C>T (p.Leu5145=) c.15432C>T (p.Leu5144=) c.15426C>T (p.Leu5142=) c.15417C>T (p.Leu5139=) c.15366C>T (p.Leu5122=) c.15363C>T (p.Leu5121=) c.15330C>T (p.Leu5110=) c.15327C>T (p.Leu5109=) c.15294C>T (p.Leu5098=) c.15564C>T (p.Leu5188=) c.15561C>T (p.Leu5187=) c.15549C>T (p.Leu5183=) c.15546C>T (p.Leu5182=) c.15540C>T (p.Leu5180=) c.15531C>T (p.Leu5177=) c.15480C>T (p.Leu5160=) c.15477C>T (p.Leu5159=) c.15444C>T (p.Leu5148=) c.15441C>T (p.Leu5147=) c.15408C>T (p.Leu5136=) c.15543C>T (p.Leu5181=) c.15516C>T (p.Leu5172=) c.15462C>T (p.Leu5154=) c.15429C>T (p.Leu5143=) c.15405C>T (p.Leu5135=) c.15357C>T (p.Leu5119=) c.15306C>T (p.Leu5102=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.19078003G>C | CA416453075 | UBR4 | c.15297C>G (p.Leu5099=) c.2418C>G (p.Leu806=) c.522C>G (p.Leu174=) n.3304C>G c.15450C>G (p.Leu5150=) c.15447C>G (p.Leu5149=) c.15435C>G (p.Leu5145=) c.15432C>G (p.Leu5144=) c.15426C>G (p.Leu5142=) c.15417C>G (p.Leu5139=) c.15366C>G (p.Leu5122=) c.15363C>G (p.Leu5121=) c.15330C>G (p.Leu5110=) c.15327C>G (p.Leu5109=) c.15294C>G (p.Leu5098=) c.15564C>G (p.Leu5188=) c.15561C>G (p.Leu5187=) c.15549C>G (p.Leu5183=) c.15546C>G (p.Leu5182=) c.15540C>G (p.Leu5180=) c.15531C>G (p.Leu5177=) c.15480C>G (p.Leu5160=) c.15477C>G (p.Leu5159=) c.15444C>G (p.Leu5148=) c.15441C>G (p.Leu5147=) c.15408C>G (p.Leu5136=) c.15543C>G (p.Leu5181=) c.15516C>G (p.Leu5172=) c.15462C>G (p.Leu5154=) c.15429C>G (p.Leu5143=) c.15405C>G (p.Leu5135=) c.15357C>G (p.Leu5119=) c.15306C>G (p.Leu5102=) | |
1 | g.19078003G= | CA1156956074 | UBR4 | c.15297C= (p.Leu5099=) c.2418C= (p.Leu806=) c.522C= (p.Leu174=) n.3304C= c.15450C= (p.Leu5150=) c.15447C= (p.Leu5149=) c.15435C= (p.Leu5145=) c.15432C= (p.Leu5144=) c.15426C= (p.Leu5142=) c.15417C= (p.Leu5139=) c.15366C= (p.Leu5122=) c.15363C= (p.Leu5121=) c.15330C= (p.Leu5110=) c.15327C= (p.Leu5109=) c.15294C= (p.Leu5098=) c.15564C= (p.Leu5188=) c.15561C= (p.Leu5187=) c.15549C= (p.Leu5183=) c.15546C= (p.Leu5182=) c.15540C= (p.Leu5180=) c.15531C= (p.Leu5177=) c.15480C= (p.Leu5160=) c.15477C= (p.Leu5159=) c.15444C= (p.Leu5148=) c.15441C= (p.Leu5147=) c.15408C= (p.Leu5136=) c.15543C= (p.Leu5181=) c.15516C= (p.Leu5172=) c.15462C= (p.Leu5154=) c.15429C= (p.Leu5143=) c.15405C= (p.Leu5135=) c.15357C= (p.Leu5119=) c.15306C= (p.Leu5102=) | |
1 | g.19078003G>T | CA416453077 | UBR4 | c.15297C>A (p.Leu5099=) c.2418C>A (p.Leu806=) c.522C>A (p.Leu174=) n.3304C>A c.15450C>A (p.Leu5150=) c.15447C>A (p.Leu5149=) c.15435C>A (p.Leu5145=) c.15432C>A (p.Leu5144=) c.15426C>A (p.Leu5142=) c.15417C>A (p.Leu5139=) c.15366C>A (p.Leu5122=) c.15363C>A (p.Leu5121=) c.15330C>A (p.Leu5110=) c.15327C>A (p.Leu5109=) c.15294C>A (p.Leu5098=) c.15564C>A (p.Leu5188=) c.15561C>A (p.Leu5187=) c.15549C>A (p.Leu5183=) c.15546C>A (p.Leu5182=) c.15540C>A (p.Leu5180=) c.15531C>A (p.Leu5177=) c.15480C>A (p.Leu5160=) c.15477C>A (p.Leu5159=) c.15444C>A (p.Leu5148=) c.15441C>A (p.Leu5147=) c.15408C>A (p.Leu5136=) c.15543C>A (p.Leu5181=) c.15516C>A (p.Leu5172=) c.15462C>A (p.Leu5154=) c.15429C>A (p.Leu5143=) c.15405C>A (p.Leu5135=) c.15357C>A (p.Leu5119=) c.15306C>A (p.Leu5102=) | |
1 | g.19078004A>C | CA338748139 | UBR4 | c.15296T>G (p.Leu5099Arg) c.2417T>G (p.Leu806Arg) c.521T>G (p.Leu174Arg) n.3303T>G c.15449T>G (p.Leu5150Arg) c.15446T>G (p.Leu5149Arg) c.15434T>G (p.Leu5145Arg) c.15431T>G (p.Leu5144Arg) c.15425T>G (p.Leu5142Arg) c.15416T>G (p.Leu5139Arg) c.15365T>G (p.Leu5122Arg) c.15362T>G (p.Leu5121Arg) c.15329T>G (p.Leu5110Arg) c.15326T>G (p.Leu5109Arg) c.15293T>G (p.Leu5098Arg) c.15563T>G (p.Leu5188Arg) c.15560T>G (p.Leu5187Arg) c.15548T>G (p.Leu5183Arg) c.15545T>G (p.Leu5182Arg) c.15539T>G (p.Leu5180Arg) c.15530T>G (p.Leu5177Arg) c.15479T>G (p.Leu5160Arg) c.15476T>G (p.Leu5159Arg) c.15443T>G (p.Leu5148Arg) c.15440T>G (p.Leu5147Arg) c.15407T>G (p.Leu5136Arg) c.15542T>G (p.Leu5181Arg) c.15515T>G (p.Leu5172Arg) c.15461T>G (p.Leu5154Arg) c.15428T>G (p.Leu5143Arg) c.15404T>G (p.Leu5135Arg) c.15356T>G (p.Leu5119Arg) c.15305T>G (p.Leu5102Arg) | |
1 | g.19078004A>G | CA338748140 | UBR4 | c.15296T>C (p.Leu5099Pro) c.2417T>C (p.Leu806Pro) c.521T>C (p.Leu174Pro) n.3303T>C c.15449T>C (p.Leu5150Pro) c.15446T>C (p.Leu5149Pro) c.15434T>C (p.Leu5145Pro) c.15431T>C (p.Leu5144Pro) c.15425T>C (p.Leu5142Pro) c.15416T>C (p.Leu5139Pro) c.15365T>C (p.Leu5122Pro) c.15362T>C (p.Leu5121Pro) c.15329T>C (p.Leu5110Pro) c.15326T>C (p.Leu5109Pro) c.15293T>C (p.Leu5098Pro) c.15563T>C (p.Leu5188Pro) c.15560T>C (p.Leu5187Pro) c.15548T>C (p.Leu5183Pro) c.15545T>C (p.Leu5182Pro) c.15539T>C (p.Leu5180Pro) c.15530T>C (p.Leu5177Pro) c.15479T>C (p.Leu5160Pro) c.15476T>C (p.Leu5159Pro) c.15443T>C (p.Leu5148Pro) c.15440T>C (p.Leu5147Pro) c.15407T>C (p.Leu5136Pro) c.15542T>C (p.Leu5181Pro) c.15515T>C (p.Leu5172Pro) c.15461T>C (p.Leu5154Pro) c.15428T>C (p.Leu5143Pro) c.15404T>C (p.Leu5135Pro) c.15356T>C (p.Leu5119Pro) c.15305T>C (p.Leu5102Pro) | |
1 | g.19078004A>T | CA338748141 | UBR4 | c.15296T>A (p.Leu5099His) c.2417T>A (p.Leu806His) c.521T>A (p.Leu174His) n.3303T>A c.15449T>A (p.Leu5150His) c.15446T>A (p.Leu5149His) c.15434T>A (p.Leu5145His) c.15431T>A (p.Leu5144His) c.15425T>A (p.Leu5142His) c.15416T>A (p.Leu5139His) c.15365T>A (p.Leu5122His) c.15362T>A (p.Leu5121His) c.15329T>A (p.Leu5110His) c.15326T>A (p.Leu5109His) c.15293T>A (p.Leu5098His) c.15563T>A (p.Leu5188His) c.15560T>A (p.Leu5187His) c.15548T>A (p.Leu5183His) c.15545T>A (p.Leu5182His) c.15539T>A (p.Leu5180His) c.15530T>A (p.Leu5177His) c.15479T>A (p.Leu5160His) c.15476T>A (p.Leu5159His) c.15443T>A (p.Leu5148His) c.15440T>A (p.Leu5147His) c.15407T>A (p.Leu5136His) c.15542T>A (p.Leu5181His) c.15515T>A (p.Leu5172His) c.15461T>A (p.Leu5154His) c.15428T>A (p.Leu5143His) c.15404T>A (p.Leu5135His) c.15356T>A (p.Leu5119His) c.15305T>A (p.Leu5102His) | |
1 | g.19078005G>A | CA338748142 | UBR4 | c.15295C>T (p.Leu5099Phe) c.2416C>T (p.Leu806Phe) c.520C>T (p.Leu174Phe) n.3302C>T c.15448C>T (p.Leu5150Phe) c.15445C>T (p.Leu5149Phe) c.15433C>T (p.Leu5145Phe) c.15430C>T (p.Leu5144Phe) c.15424C>T (p.Leu5142Phe) c.15415C>T (p.Leu5139Phe) c.15364C>T (p.Leu5122Phe) c.15361C>T (p.Leu5121Phe) c.15328C>T (p.Leu5110Phe) c.15325C>T (p.Leu5109Phe) c.15292C>T (p.Leu5098Phe) c.15562C>T (p.Leu5188Phe) c.15559C>T (p.Leu5187Phe) c.15547C>T (p.Leu5183Phe) c.15544C>T (p.Leu5182Phe) c.15538C>T (p.Leu5180Phe) c.15529C>T (p.Leu5177Phe) c.15478C>T (p.Leu5160Phe) c.15475C>T (p.Leu5159Phe) c.15442C>T (p.Leu5148Phe) c.15439C>T (p.Leu5147Phe) c.15406C>T (p.Leu5136Phe) c.15541C>T (p.Leu5181Phe) c.15514C>T (p.Leu5172Phe) c.15460C>T (p.Leu5154Phe) c.15427C>T (p.Leu5143Phe) c.15403C>T (p.Leu5135Phe) c.15355C>T (p.Leu5119Phe) c.15304C>T (p.Leu5102Phe) | gnomAD v4 |
1 | g.19078005G>C | CA338748143 | UBR4 | c.15295C>G (p.Leu5099Val) c.2416C>G (p.Leu806Val) c.520C>G (p.Leu174Val) n.3302C>G c.15448C>G (p.Leu5150Val) c.15445C>G (p.Leu5149Val) c.15433C>G (p.Leu5145Val) c.15430C>G (p.Leu5144Val) c.15424C>G (p.Leu5142Val) c.15415C>G (p.Leu5139Val) c.15364C>G (p.Leu5122Val) c.15361C>G (p.Leu5121Val) c.15328C>G (p.Leu5110Val) c.15325C>G (p.Leu5109Val) c.15292C>G (p.Leu5098Val) c.15562C>G (p.Leu5188Val) c.15559C>G (p.Leu5187Val) c.15547C>G (p.Leu5183Val) c.15544C>G (p.Leu5182Val) c.15538C>G (p.Leu5180Val) c.15529C>G (p.Leu5177Val) c.15478C>G (p.Leu5160Val) c.15475C>G (p.Leu5159Val) c.15442C>G (p.Leu5148Val) c.15439C>G (p.Leu5147Val) c.15406C>G (p.Leu5136Val) c.15541C>G (p.Leu5181Val) c.15514C>G (p.Leu5172Val) c.15460C>G (p.Leu5154Val) c.15427C>G (p.Leu5143Val) c.15403C>G (p.Leu5135Val) c.15355C>G (p.Leu5119Val) c.15304C>G (p.Leu5102Val) | |
1 | g.19078005G>T | CA338748144 | UBR4 | c.15295C>A (p.Leu5099Ile) c.2416C>A (p.Leu806Ile) c.520C>A (p.Leu174Ile) n.3302C>A c.15448C>A (p.Leu5150Ile) c.15445C>A (p.Leu5149Ile) c.15433C>A (p.Leu5145Ile) c.15430C>A (p.Leu5144Ile) c.15424C>A (p.Leu5142Ile) c.15415C>A (p.Leu5139Ile) c.15364C>A (p.Leu5122Ile) c.15361C>A (p.Leu5121Ile) c.15328C>A (p.Leu5110Ile) c.15325C>A (p.Leu5109Ile) c.15292C>A (p.Leu5098Ile) c.15562C>A (p.Leu5188Ile) c.15559C>A (p.Leu5187Ile) c.15547C>A (p.Leu5183Ile) c.15544C>A (p.Leu5182Ile) c.15538C>A (p.Leu5180Ile) c.15529C>A (p.Leu5177Ile) c.15478C>A (p.Leu5160Ile) c.15475C>A (p.Leu5159Ile) c.15442C>A (p.Leu5148Ile) c.15439C>A (p.Leu5147Ile) c.15406C>A (p.Leu5136Ile) c.15541C>A (p.Leu5181Ile) c.15514C>A (p.Leu5172Ile) c.15460C>A (p.Leu5154Ile) c.15427C>A (p.Leu5143Ile) c.15403C>A (p.Leu5135Ile) c.15355C>A (p.Leu5119Ile) c.15304C>A (p.Leu5102Ile) | |
1 | g.19078006G>A | CA416453088 | UBR4 | c.15294C>T (p.Ala5098=) c.2415C>T (p.Ala805=) c.519C>T (p.Ala173=) n.3301C>T c.15447C>T (p.Ala5149=) c.15444C>T (p.Ala5148=) c.15432C>T (p.Ala5144=) c.15429C>T (p.Ala5143=) c.15423C>T (p.Ala5141=) c.15414C>T (p.Ala5138=) c.15363C>T (p.Ala5121=) c.15360C>T (p.Ala5120=) c.15327C>T (p.Ala5109=) c.15324C>T (p.Ala5108=) c.15291C>T (p.Ala5097=) c.15561C>T (p.Ala5187=) c.15558C>T (p.Ala5186=) c.15546C>T (p.Ala5182=) c.15543C>T (p.Ala5181=) c.15537C>T (p.Ala5179=) c.15528C>T (p.Ala5176=) c.15477C>T (p.Ala5159=) c.15474C>T (p.Ala5158=) c.15441C>T (p.Ala5147=) c.15438C>T (p.Ala5146=) c.15405C>T (p.Ala5135=) c.15540C>T (p.Ala5180=) c.15513C>T (p.Ala5171=) c.15459C>T (p.Ala5153=) c.15426C>T (p.Ala5142=) c.15402C>T (p.Ala5134=) c.15354C>T (p.Ala5118=) c.15303C>T (p.Ala5101=) | |
1 | g.19078006G>C | CA647916 | UBR4 | c.15294C>G (p.Ala5098=) c.2415C>G (p.Ala805=) c.519C>G (p.Ala173=) n.3301C>G c.15447C>G (p.Ala5149=) c.15444C>G (p.Ala5148=) c.15432C>G (p.Ala5144=) c.15429C>G (p.Ala5143=) c.15423C>G (p.Ala5141=) c.15414C>G (p.Ala5138=) c.15363C>G (p.Ala5121=) c.15360C>G (p.Ala5120=) c.15327C>G (p.Ala5109=) c.15324C>G (p.Ala5108=) c.15291C>G (p.Ala5097=) c.15561C>G (p.Ala5187=) c.15558C>G (p.Ala5186=) c.15546C>G (p.Ala5182=) c.15543C>G (p.Ala5181=) c.15537C>G (p.Ala5179=) c.15528C>G (p.Ala5176=) c.15477C>G (p.Ala5159=) c.15474C>G (p.Ala5158=) c.15441C>G (p.Ala5147=) c.15438C>G (p.Ala5146=) c.15405C>G (p.Ala5135=) c.15540C>G (p.Ala5180=) c.15513C>G (p.Ala5171=) c.15459C>G (p.Ala5153=) c.15426C>G (p.Ala5142=) c.15402C>G (p.Ala5134=) c.15354C>G (p.Ala5118=) c.15303C>G (p.Ala5101=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.19078006G= | CA1149127390 | UBR4 | c.15294C= (p.Ala5098=) c.2415C= (p.Ala805=) c.519C= (p.Ala173=) n.3301C= c.15447C= (p.Ala5149=) c.15444C= (p.Ala5148=) c.15432C= (p.Ala5144=) c.15429C= (p.Ala5143=) c.15423C= (p.Ala5141=) c.15414C= (p.Ala5138=) c.15363C= (p.Ala5121=) c.15360C= (p.Ala5120=) c.15327C= (p.Ala5109=) c.15324C= (p.Ala5108=) c.15291C= (p.Ala5097=) c.15561C= (p.Ala5187=) c.15558C= (p.Ala5186=) c.15546C= (p.Ala5182=) c.15543C= (p.Ala5181=) c.15537C= (p.Ala5179=) c.15528C= (p.Ala5176=) c.15477C= (p.Ala5159=) c.15474C= (p.Ala5158=) c.15441C= (p.Ala5147=) c.15438C= (p.Ala5146=) c.15405C= (p.Ala5135=) c.15540C= (p.Ala5180=) c.15513C= (p.Ala5171=) c.15459C= (p.Ala5153=) c.15426C= (p.Ala5142=) c.15402C= (p.Ala5134=) c.15354C= (p.Ala5118=) c.15303C= (p.Ala5101=) | |
1 | g.19078006G>T | CA416453089 | UBR4 | c.15294C>A (p.Ala5098=) c.2415C>A (p.Ala805=) c.519C>A (p.Ala173=) n.3301C>A c.15447C>A (p.Ala5149=) c.15444C>A (p.Ala5148=) c.15432C>A (p.Ala5144=) c.15429C>A (p.Ala5143=) c.15423C>A (p.Ala5141=) c.15414C>A (p.Ala5138=) c.15363C>A (p.Ala5121=) c.15360C>A (p.Ala5120=) c.15327C>A (p.Ala5109=) c.15324C>A (p.Ala5108=) c.15291C>A (p.Ala5097=) c.15561C>A (p.Ala5187=) c.15558C>A (p.Ala5186=) c.15546C>A (p.Ala5182=) c.15543C>A (p.Ala5181=) c.15537C>A (p.Ala5179=) c.15528C>A (p.Ala5176=) c.15477C>A (p.Ala5159=) c.15474C>A (p.Ala5158=) c.15441C>A (p.Ala5147=) c.15438C>A (p.Ala5146=) c.15405C>A (p.Ala5135=) c.15540C>A (p.Ala5180=) c.15513C>A (p.Ala5171=) c.15459C>A (p.Ala5153=) c.15426C>A (p.Ala5142=) c.15402C>A (p.Ala5134=) c.15354C>A (p.Ala5118=) c.15303C>A (p.Ala5101=) | |
1 | g.19078007G>A | CA338748146 | UBR4 | c.15293C>T (p.Ala5098Val) c.2414C>T (p.Ala805Val) c.518C>T (p.Ala173Val) n.3300C>T c.15446C>T (p.Ala5149Val) c.15443C>T (p.Ala5148Val) c.15431C>T (p.Ala5144Val) c.15428C>T (p.Ala5143Val) c.15422C>T (p.Ala5141Val) c.15413C>T (p.Ala5138Val) c.15362C>T (p.Ala5121Val) c.15359C>T (p.Ala5120Val) c.15326C>T (p.Ala5109Val) c.15323C>T (p.Ala5108Val) c.15290C>T (p.Ala5097Val) c.15560C>T (p.Ala5187Val) c.15557C>T (p.Ala5186Val) c.15545C>T (p.Ala5182Val) c.15542C>T (p.Ala5181Val) c.15536C>T (p.Ala5179Val) c.15527C>T (p.Ala5176Val) c.15476C>T (p.Ala5159Val) c.15473C>T (p.Ala5158Val) c.15440C>T (p.Ala5147Val) c.15437C>T (p.Ala5146Val) c.15404C>T (p.Ala5135Val) c.15539C>T (p.Ala5180Val) c.15512C>T (p.Ala5171Val) c.15458C>T (p.Ala5153Val) c.15425C>T (p.Ala5142Val) c.15401C>T (p.Ala5134Val) c.15353C>T (p.Ala5118Val) c.15302C>T (p.Ala5101Val) | |
1 | g.19078007G>C | CA647917 | UBR4 | c.15293C>G (p.Ala5098Gly) c.2414C>G (p.Ala805Gly) c.518C>G (p.Ala173Gly) n.3300C>G c.15446C>G (p.Ala5149Gly) c.15443C>G (p.Ala5148Gly) c.15431C>G (p.Ala5144Gly) c.15428C>G (p.Ala5143Gly) c.15422C>G (p.Ala5141Gly) c.15413C>G (p.Ala5138Gly) c.15362C>G (p.Ala5121Gly) c.15359C>G (p.Ala5120Gly) c.15326C>G (p.Ala5109Gly) c.15323C>G (p.Ala5108Gly) c.15290C>G (p.Ala5097Gly) c.15560C>G (p.Ala5187Gly) c.15557C>G (p.Ala5186Gly) c.15545C>G (p.Ala5182Gly) c.15542C>G (p.Ala5181Gly) c.15536C>G (p.Ala5179Gly) c.15527C>G (p.Ala5176Gly) c.15476C>G (p.Ala5159Gly) c.15473C>G (p.Ala5158Gly) c.15440C>G (p.Ala5147Gly) c.15437C>G (p.Ala5146Gly) c.15404C>G (p.Ala5135Gly) c.15539C>G (p.Ala5180Gly) c.15512C>G (p.Ala5171Gly) c.15458C>G (p.Ala5153Gly) c.15425C>G (p.Ala5142Gly) c.15401C>G (p.Ala5134Gly) c.15353C>G (p.Ala5118Gly) c.15302C>G (p.Ala5101Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.19078007G= | CA1156956075 | UBR4 | c.15293C= (p.Ala5098=) c.2414C= (p.Ala805=) c.518C= (p.Ala173=) n.3300C= c.15446C= (p.Ala5149=) c.15443C= (p.Ala5148=) c.15431C= (p.Ala5144=) c.15428C= (p.Ala5143=) c.15422C= (p.Ala5141=) c.15413C= (p.Ala5138=) c.15362C= (p.Ala5121=) c.15359C= (p.Ala5120=) c.15326C= (p.Ala5109=) c.15323C= (p.Ala5108=) c.15290C= (p.Ala5097=) c.15560C= (p.Ala5187=) c.15557C= (p.Ala5186=) c.15545C= (p.Ala5182=) c.15542C= (p.Ala5181=) c.15536C= (p.Ala5179=) c.15527C= (p.Ala5176=) c.15476C= (p.Ala5159=) c.15473C= (p.Ala5158=) c.15440C= (p.Ala5147=) c.15437C= (p.Ala5146=) c.15404C= (p.Ala5135=) c.15539C= (p.Ala5180=) c.15512C= (p.Ala5171=) c.15458C= (p.Ala5153=) c.15425C= (p.Ala5142=) c.15401C= (p.Ala5134=) c.15353C= (p.Ala5118=) c.15302C= (p.Ala5101=) | |
1 | g.19078007G>T | CA338748145 | UBR4 | c.15293C>A (p.Ala5098Asp) c.2414C>A (p.Ala805Asp) c.518C>A (p.Ala173Asp) n.3300C>A c.15446C>A (p.Ala5149Asp) c.15443C>A (p.Ala5148Asp) c.15431C>A (p.Ala5144Asp) c.15428C>A (p.Ala5143Asp) c.15422C>A (p.Ala5141Asp) c.15413C>A (p.Ala5138Asp) c.15362C>A (p.Ala5121Asp) c.15359C>A (p.Ala5120Asp) c.15326C>A (p.Ala5109Asp) c.15323C>A (p.Ala5108Asp) c.15290C>A (p.Ala5097Asp) c.15560C>A (p.Ala5187Asp) c.15557C>A (p.Ala5186Asp) c.15545C>A (p.Ala5182Asp) c.15542C>A (p.Ala5181Asp) c.15536C>A (p.Ala5179Asp) c.15527C>A (p.Ala5176Asp) c.15476C>A (p.Ala5159Asp) c.15473C>A (p.Ala5158Asp) c.15440C>A (p.Ala5147Asp) c.15437C>A (p.Ala5146Asp) c.15404C>A (p.Ala5135Asp) c.15539C>A (p.Ala5180Asp) c.15512C>A (p.Ala5171Asp) c.15458C>A (p.Ala5153Asp) c.15425C>A (p.Ala5142Asp) c.15401C>A (p.Ala5134Asp) c.15353C>A (p.Ala5118Asp) c.15302C>A (p.Ala5101Asp) | gnomAD v4 |
1 | g.19078008C>A | CA338748147 | UBR4 | c.15292G>T (p.Ala5098Ser) c.2413G>T (p.Ala805Ser) c.517G>T (p.Ala173Ser) n.3299G>T c.15445G>T (p.Ala5149Ser) c.15442G>T (p.Ala5148Ser) c.15430G>T (p.Ala5144Ser) c.15427G>T (p.Ala5143Ser) c.15421G>T (p.Ala5141Ser) c.15412G>T (p.Ala5138Ser) c.15361G>T (p.Ala5121Ser) c.15358G>T (p.Ala5120Ser) c.15325G>T (p.Ala5109Ser) c.15322G>T (p.Ala5108Ser) c.15289G>T (p.Ala5097Ser) c.15559G>T (p.Ala5187Ser) c.15556G>T (p.Ala5186Ser) c.15544G>T (p.Ala5182Ser) c.15541G>T (p.Ala5181Ser) c.15535G>T (p.Ala5179Ser) c.15526G>T (p.Ala5176Ser) c.15475G>T (p.Ala5159Ser) c.15472G>T (p.Ala5158Ser) c.15439G>T (p.Ala5147Ser) c.15436G>T (p.Ala5146Ser) c.15403G>T (p.Ala5135Ser) c.15538G>T (p.Ala5180Ser) c.15511G>T (p.Ala5171Ser) c.15457G>T (p.Ala5153Ser) c.15424G>T (p.Ala5142Ser) c.15400G>T (p.Ala5134Ser) c.15352G>T (p.Ala5118Ser) c.15301G>T (p.Ala5101Ser) | |
1 | g.19078008C>G | CA338748148 | UBR4 | c.15292G>C (p.Ala5098Pro) c.2413G>C (p.Ala805Pro) c.517G>C (p.Ala173Pro) n.3299G>C c.15445G>C (p.Ala5149Pro) c.15442G>C (p.Ala5148Pro) c.15430G>C (p.Ala5144Pro) c.15427G>C (p.Ala5143Pro) c.15421G>C (p.Ala5141Pro) c.15412G>C (p.Ala5138Pro) c.15361G>C (p.Ala5121Pro) c.15358G>C (p.Ala5120Pro) c.15325G>C (p.Ala5109Pro) c.15322G>C (p.Ala5108Pro) c.15289G>C (p.Ala5097Pro) c.15559G>C (p.Ala5187Pro) c.15556G>C (p.Ala5186Pro) c.15544G>C (p.Ala5182Pro) c.15541G>C (p.Ala5181Pro) c.15535G>C (p.Ala5179Pro) c.15526G>C (p.Ala5176Pro) c.15475G>C (p.Ala5159Pro) c.15472G>C (p.Ala5158Pro) c.15439G>C (p.Ala5147Pro) c.15436G>C (p.Ala5146Pro) c.15403G>C (p.Ala5135Pro) c.15538G>C (p.Ala5180Pro) c.15511G>C (p.Ala5171Pro) c.15457G>C (p.Ala5153Pro) c.15424G>C (p.Ala5142Pro) c.15400G>C (p.Ala5134Pro) c.15352G>C (p.Ala5118Pro) c.15301G>C (p.Ala5101Pro) | |
1 | g.19078008C>T | CA338748149 | UBR4 | c.15292G>A (p.Ala5098Thr) c.2413G>A (p.Ala805Thr) c.517G>A (p.Ala173Thr) n.3299G>A c.15445G>A (p.Ala5149Thr) c.15442G>A (p.Ala5148Thr) c.15430G>A (p.Ala5144Thr) c.15427G>A (p.Ala5143Thr) c.15421G>A (p.Ala5141Thr) c.15412G>A (p.Ala5138Thr) c.15361G>A (p.Ala5121Thr) c.15358G>A (p.Ala5120Thr) c.15325G>A (p.Ala5109Thr) c.15322G>A (p.Ala5108Thr) c.15289G>A (p.Ala5097Thr) c.15559G>A (p.Ala5187Thr) c.15556G>A (p.Ala5186Thr) c.15544G>A (p.Ala5182Thr) c.15541G>A (p.Ala5181Thr) c.15535G>A (p.Ala5179Thr) c.15526G>A (p.Ala5176Thr) c.15475G>A (p.Ala5159Thr) c.15472G>A (p.Ala5158Thr) c.15439G>A (p.Ala5147Thr) c.15436G>A (p.Ala5146Thr) c.15403G>A (p.Ala5135Thr) c.15538G>A (p.Ala5180Thr) c.15511G>A (p.Ala5171Thr) c.15457G>A (p.Ala5153Thr) c.15424G>A (p.Ala5142Thr) c.15400G>A (p.Ala5134Thr) c.15352G>A (p.Ala5118Thr) c.15301G>A (p.Ala5101Thr) | |
1 | g.19078009C>A | CA338748150 | UBR4 | c.15291G>T (p.Trp5097Cys) c.2412G>T (p.Trp804Cys) c.516G>T (p.Trp172Cys) n.3298G>T c.15444G>T (p.Trp5148Cys) c.15441G>T (p.Trp5147Cys) c.15429G>T (p.Trp5143Cys) c.15426G>T (p.Trp5142Cys) c.15420G>T (p.Trp5140Cys) c.15411G>T (p.Trp5137Cys) c.15360G>T (p.Trp5120Cys) c.15357G>T (p.Trp5119Cys) c.15324G>T (p.Trp5108Cys) c.15321G>T (p.Trp5107Cys) c.15288G>T (p.Trp5096Cys) c.15558G>T (p.Trp5186Cys) c.15555G>T (p.Trp5185Cys) c.15543G>T (p.Trp5181Cys) c.15540G>T (p.Trp5180Cys) c.15534G>T (p.Trp5178Cys) c.15525G>T (p.Trp5175Cys) c.15474G>T (p.Trp5158Cys) c.15471G>T (p.Trp5157Cys) c.15438G>T (p.Trp5146Cys) c.15435G>T (p.Trp5145Cys) c.15402G>T (p.Trp5134Cys) c.15537G>T (p.Trp5179Cys) c.15510G>T (p.Trp5170Cys) c.15456G>T (p.Trp5152Cys) c.15423G>T (p.Trp5141Cys) c.15399G>T (p.Trp5133Cys) c.15351G>T (p.Trp5117Cys) c.15300G>T (p.Trp5100Cys) | dbSNP gnomAD v2 |
1 | g.19078009C= | CA1156956076 | UBR4 | c.15291G= (p.Trp5097=) c.2412G= (p.Trp804=) c.516G= (p.Trp172=) n.3298G= c.15444G= (p.Trp5148=) c.15441G= (p.Trp5147=) c.15429G= (p.Trp5143=) c.15426G= (p.Trp5142=) c.15420G= (p.Trp5140=) c.15411G= (p.Trp5137=) c.15360G= (p.Trp5120=) c.15357G= (p.Trp5119=) c.15324G= (p.Trp5108=) c.15321G= (p.Trp5107=) c.15288G= (p.Trp5096=) c.15558G= (p.Trp5186=) c.15555G= (p.Trp5185=) c.15543G= (p.Trp5181=) c.15540G= (p.Trp5180=) c.15534G= (p.Trp5178=) c.15525G= (p.Trp5175=) c.15474G= (p.Trp5158=) c.15471G= (p.Trp5157=) c.15438G= (p.Trp5146=) c.15435G= (p.Trp5145=) c.15402G= (p.Trp5134=) c.15537G= (p.Trp5179=) c.15510G= (p.Trp5170=) c.15456G= (p.Trp5152=) c.15423G= (p.Trp5141=) c.15399G= (p.Trp5133=) c.15351G= (p.Trp5117=) c.15300G= (p.Trp5100=) | |
1 | g.19078009C>G | CA338748151 | UBR4 | c.15291G>C (p.Trp5097Cys) c.2412G>C (p.Trp804Cys) c.516G>C (p.Trp172Cys) n.3298G>C c.15444G>C (p.Trp5148Cys) c.15441G>C (p.Trp5147Cys) c.15429G>C (p.Trp5143Cys) c.15426G>C (p.Trp5142Cys) c.15420G>C (p.Trp5140Cys) c.15411G>C (p.Trp5137Cys) c.15360G>C (p.Trp5120Cys) c.15357G>C (p.Trp5119Cys) c.15324G>C (p.Trp5108Cys) c.15321G>C (p.Trp5107Cys) c.15288G>C (p.Trp5096Cys) c.15558G>C (p.Trp5186Cys) c.15555G>C (p.Trp5185Cys) c.15543G>C (p.Trp5181Cys) c.15540G>C (p.Trp5180Cys) c.15534G>C (p.Trp5178Cys) c.15525G>C (p.Trp5175Cys) c.15474G>C (p.Trp5158Cys) c.15471G>C (p.Trp5157Cys) c.15438G>C (p.Trp5146Cys) c.15435G>C (p.Trp5145Cys) c.15402G>C (p.Trp5134Cys) c.15537G>C (p.Trp5179Cys) c.15510G>C (p.Trp5170Cys) c.15456G>C (p.Trp5152Cys) c.15423G>C (p.Trp5141Cys) c.15399G>C (p.Trp5133Cys) c.15351G>C (p.Trp5117Cys) c.15300G>C (p.Trp5100Cys) | |
1 | g.19078009C>T | CA338748152 | UBR4 | c.15291G>A (p.Trp5097Ter) c.2412G>A (p.Trp804Ter) c.516G>A (p.Trp172Ter) n.3298G>A c.15444G>A (p.Trp5148Ter) c.15441G>A (p.Trp5147Ter) c.15429G>A (p.Trp5143Ter) c.15426G>A (p.Trp5142Ter) c.15420G>A (p.Trp5140Ter) c.15411G>A (p.Trp5137Ter) c.15360G>A (p.Trp5120Ter) c.15357G>A (p.Trp5119Ter) c.15324G>A (p.Trp5108Ter) c.15321G>A (p.Trp5107Ter) c.15288G>A (p.Trp5096Ter) c.15558G>A (p.Trp5186Ter) c.15555G>A (p.Trp5185Ter) c.15543G>A (p.Trp5181Ter) c.15540G>A (p.Trp5180Ter) c.15534G>A (p.Trp5178Ter) c.15525G>A (p.Trp5175Ter) c.15474G>A (p.Trp5158Ter) c.15471G>A (p.Trp5157Ter) c.15438G>A (p.Trp5146Ter) c.15435G>A (p.Trp5145Ter) c.15402G>A (p.Trp5134Ter) c.15537G>A (p.Trp5179Ter) c.15510G>A (p.Trp5170Ter) c.15456G>A (p.Trp5152Ter) c.15423G>A (p.Trp5141Ter) c.15399G>A (p.Trp5133Ter) c.15351G>A (p.Trp5117Ter) c.15300G>A (p.Trp5100Ter) | |
1 | g.19078010C>A | CA338748153 | UBR4 | c.15290G>T (p.Trp5097Leu) c.2411G>T (p.Trp804Leu) c.515G>T (p.Trp172Leu) n.3297G>T c.15443G>T (p.Trp5148Leu) c.15440G>T (p.Trp5147Leu) c.15428G>T (p.Trp5143Leu) c.15425G>T (p.Trp5142Leu) c.15419G>T (p.Trp5140Leu) c.15410G>T (p.Trp5137Leu) c.15359G>T (p.Trp5120Leu) c.15356G>T (p.Trp5119Leu) c.15323G>T (p.Trp5108Leu) c.15320G>T (p.Trp5107Leu) c.15287G>T (p.Trp5096Leu) c.15557G>T (p.Trp5186Leu) c.15554G>T (p.Trp5185Leu) c.15542G>T (p.Trp5181Leu) c.15539G>T (p.Trp5180Leu) c.15533G>T (p.Trp5178Leu) c.15524G>T (p.Trp5175Leu) c.15473G>T (p.Trp5158Leu) c.15470G>T (p.Trp5157Leu) c.15437G>T (p.Trp5146Leu) c.15434G>T (p.Trp5145Leu) c.15401G>T (p.Trp5134Leu) c.15536G>T (p.Trp5179Leu) c.15509G>T (p.Trp5170Leu) c.15455G>T (p.Trp5152Leu) c.15422G>T (p.Trp5141Leu) c.15398G>T (p.Trp5133Leu) c.15350G>T (p.Trp5117Leu) c.15299G>T (p.Trp5100Leu) | |
1 | g.19078010C>G | CA338748154 | UBR4 | c.15290G>C (p.Trp5097Ser) c.2411G>C (p.Trp804Ser) c.515G>C (p.Trp172Ser) n.3297G>C c.15443G>C (p.Trp5148Ser) c.15440G>C (p.Trp5147Ser) c.15428G>C (p.Trp5143Ser) c.15425G>C (p.Trp5142Ser) c.15419G>C (p.Trp5140Ser) c.15410G>C (p.Trp5137Ser) c.15359G>C (p.Trp5120Ser) c.15356G>C (p.Trp5119Ser) c.15323G>C (p.Trp5108Ser) c.15320G>C (p.Trp5107Ser) c.15287G>C (p.Trp5096Ser) c.15557G>C (p.Trp5186Ser) c.15554G>C (p.Trp5185Ser) c.15542G>C (p.Trp5181Ser) c.15539G>C (p.Trp5180Ser) c.15533G>C (p.Trp5178Ser) c.15524G>C (p.Trp5175Ser) c.15473G>C (p.Trp5158Ser) c.15470G>C (p.Trp5157Ser) c.15437G>C (p.Trp5146Ser) c.15434G>C (p.Trp5145Ser) c.15401G>C (p.Trp5134Ser) c.15536G>C (p.Trp5179Ser) c.15509G>C (p.Trp5170Ser) c.15455G>C (p.Trp5152Ser) c.15422G>C (p.Trp5141Ser) c.15398G>C (p.Trp5133Ser) c.15350G>C (p.Trp5117Ser) c.15299G>C (p.Trp5100Ser) | |
1 | g.19078010C>T | CA338748155 | UBR4 | c.15290G>A (p.Trp5097Ter) c.2411G>A (p.Trp804Ter) c.515G>A (p.Trp172Ter) n.3297G>A c.15443G>A (p.Trp5148Ter) c.15440G>A (p.Trp5147Ter) c.15428G>A (p.Trp5143Ter) c.15425G>A (p.Trp5142Ter) c.15419G>A (p.Trp5140Ter) c.15410G>A (p.Trp5137Ter) c.15359G>A (p.Trp5120Ter) c.15356G>A (p.Trp5119Ter) c.15323G>A (p.Trp5108Ter) c.15320G>A (p.Trp5107Ter) c.15287G>A (p.Trp5096Ter) c.15557G>A (p.Trp5186Ter) c.15554G>A (p.Trp5185Ter) c.15542G>A (p.Trp5181Ter) c.15539G>A (p.Trp5180Ter) c.15533G>A (p.Trp5178Ter) c.15524G>A (p.Trp5175Ter) c.15473G>A (p.Trp5158Ter) c.15470G>A (p.Trp5157Ter) c.15437G>A (p.Trp5146Ter) c.15434G>A (p.Trp5145Ter) c.15401G>A (p.Trp5134Ter) c.15536G>A (p.Trp5179Ter) c.15509G>A (p.Trp5170Ter) c.15455G>A (p.Trp5152Ter) c.15422G>A (p.Trp5141Ter) c.15398G>A (p.Trp5133Ter) c.15350G>A (p.Trp5117Ter) c.15299G>A (p.Trp5100Ter) | |
1 | g.19078011A>C | CA338748156 | UBR4 | c.15289T>G (p.Trp5097Gly) c.2410T>G (p.Trp804Gly) c.514T>G (p.Trp172Gly) n.3296T>G c.15442T>G (p.Trp5148Gly) c.15439T>G (p.Trp5147Gly) c.15427T>G (p.Trp5143Gly) c.15424T>G (p.Trp5142Gly) c.15418T>G (p.Trp5140Gly) c.15409T>G (p.Trp5137Gly) c.15358T>G (p.Trp5120Gly) c.15355T>G (p.Trp5119Gly) c.15322T>G (p.Trp5108Gly) c.15319T>G (p.Trp5107Gly) c.15286T>G (p.Trp5096Gly) c.15556T>G (p.Trp5186Gly) c.15553T>G (p.Trp5185Gly) c.15541T>G (p.Trp5181Gly) c.15538T>G (p.Trp5180Gly) c.15532T>G (p.Trp5178Gly) c.15523T>G (p.Trp5175Gly) c.15472T>G (p.Trp5158Gly) c.15469T>G (p.Trp5157Gly) c.15436T>G (p.Trp5146Gly) c.15433T>G (p.Trp5145Gly) c.15400T>G (p.Trp5134Gly) c.15535T>G (p.Trp5179Gly) c.15508T>G (p.Trp5170Gly) c.15454T>G (p.Trp5152Gly) c.15421T>G (p.Trp5141Gly) c.15397T>G (p.Trp5133Gly) c.15349T>G (p.Trp5117Gly) c.15298T>G (p.Trp5100Gly) | gnomAD v4 |
1 | g.19078011A>G | CA338748157 | UBR4 | c.15289T>C (p.Trp5097Arg) c.2410T>C (p.Trp804Arg) c.514T>C (p.Trp172Arg) n.3296T>C c.15442T>C (p.Trp5148Arg) c.15439T>C (p.Trp5147Arg) c.15427T>C (p.Trp5143Arg) c.15424T>C (p.Trp5142Arg) c.15418T>C (p.Trp5140Arg) c.15409T>C (p.Trp5137Arg) c.15358T>C (p.Trp5120Arg) c.15355T>C (p.Trp5119Arg) c.15322T>C (p.Trp5108Arg) c.15319T>C (p.Trp5107Arg) c.15286T>C (p.Trp5096Arg) c.15556T>C (p.Trp5186Arg) c.15553T>C (p.Trp5185Arg) c.15541T>C (p.Trp5181Arg) c.15538T>C (p.Trp5180Arg) c.15532T>C (p.Trp5178Arg) c.15523T>C (p.Trp5175Arg) c.15472T>C (p.Trp5158Arg) c.15469T>C (p.Trp5157Arg) c.15436T>C (p.Trp5146Arg) c.15433T>C (p.Trp5145Arg) c.15400T>C (p.Trp5134Arg) c.15535T>C (p.Trp5179Arg) c.15508T>C (p.Trp5170Arg) c.15454T>C (p.Trp5152Arg) c.15421T>C (p.Trp5141Arg) c.15397T>C (p.Trp5133Arg) c.15349T>C (p.Trp5117Arg) c.15298T>C (p.Trp5100Arg) | |
1 | g.19078011A>T | CA338748158 | UBR4 | c.15289T>A (p.Trp5097Arg) c.2410T>A (p.Trp804Arg) c.514T>A (p.Trp172Arg) n.3296T>A c.15442T>A (p.Trp5148Arg) c.15439T>A (p.Trp5147Arg) c.15427T>A (p.Trp5143Arg) c.15424T>A (p.Trp5142Arg) c.15418T>A (p.Trp5140Arg) c.15409T>A (p.Trp5137Arg) c.15358T>A (p.Trp5120Arg) c.15355T>A (p.Trp5119Arg) c.15322T>A (p.Trp5108Arg) c.15319T>A (p.Trp5107Arg) c.15286T>A (p.Trp5096Arg) c.15556T>A (p.Trp5186Arg) c.15553T>A (p.Trp5185Arg) c.15541T>A (p.Trp5181Arg) c.15538T>A (p.Trp5180Arg) c.15532T>A (p.Trp5178Arg) c.15523T>A (p.Trp5175Arg) c.15472T>A (p.Trp5158Arg) c.15469T>A (p.Trp5157Arg) c.15436T>A (p.Trp5146Arg) c.15433T>A (p.Trp5145Arg) c.15400T>A (p.Trp5134Arg) c.15535T>A (p.Trp5179Arg) c.15508T>A (p.Trp5170Arg) c.15454T>A (p.Trp5152Arg) c.15421T>A (p.Trp5141Arg) c.15397T>A (p.Trp5133Arg) c.15349T>A (p.Trp5117Arg) c.15298T>A (p.Trp5100Arg) | |
1 | g.19078012A>C | CA338748159 | UBR4 | c.15288T>G (p.Phe5096Leu) c.2409T>G (p.Phe803Leu) c.513T>G (p.Phe171Leu) n.3295T>G c.15441T>G (p.Phe5147Leu) c.15438T>G (p.Phe5146Leu) c.15426T>G (p.Phe5142Leu) c.15423T>G (p.Phe5141Leu) c.15417T>G (p.Phe5139Leu) c.15408T>G (p.Phe5136Leu) c.15357T>G (p.Phe5119Leu) c.15354T>G (p.Phe5118Leu) c.15321T>G (p.Phe5107Leu) c.15318T>G (p.Phe5106Leu) c.15285T>G (p.Phe5095Leu) c.15555T>G (p.Phe5185Leu) c.15552T>G (p.Phe5184Leu) c.15540T>G (p.Phe5180Leu) c.15537T>G (p.Phe5179Leu) c.15531T>G (p.Phe5177Leu) c.15522T>G (p.Phe5174Leu) c.15471T>G (p.Phe5157Leu) c.15468T>G (p.Phe5156Leu) c.15435T>G (p.Phe5145Leu) c.15432T>G (p.Phe5144Leu) c.15399T>G (p.Phe5133Leu) c.15534T>G (p.Phe5178Leu) c.15507T>G (p.Phe5169Leu) c.15453T>G (p.Phe5151Leu) c.15420T>G (p.Phe5140Leu) c.15396T>G (p.Phe5132Leu) c.15348T>G (p.Phe5116Leu) c.15297T>G (p.Phe5099Leu) | |
1 | g.19078012A>G | CA416453113 | UBR4 | c.15288T>C (p.Phe5096=) c.2409T>C (p.Phe803=) c.513T>C (p.Phe171=) n.3295T>C c.15441T>C (p.Phe5147=) c.15438T>C (p.Phe5146=) c.15426T>C (p.Phe5142=) c.15423T>C (p.Phe5141=) c.15417T>C (p.Phe5139=) c.15408T>C (p.Phe5136=) c.15357T>C (p.Phe5119=) c.15354T>C (p.Phe5118=) c.15321T>C (p.Phe5107=) c.15318T>C (p.Phe5106=) c.15285T>C (p.Phe5095=) c.15555T>C (p.Phe5185=) c.15552T>C (p.Phe5184=) c.15540T>C (p.Phe5180=) c.15537T>C (p.Phe5179=) c.15531T>C (p.Phe5177=) c.15522T>C (p.Phe5174=) c.15471T>C (p.Phe5157=) c.15468T>C (p.Phe5156=) c.15435T>C (p.Phe5145=) c.15432T>C (p.Phe5144=) c.15399T>C (p.Phe5133=) c.15534T>C (p.Phe5178=) c.15507T>C (p.Phe5169=) c.15453T>C (p.Phe5151=) c.15420T>C (p.Phe5140=) c.15396T>C (p.Phe5132=) c.15348T>C (p.Phe5116=) c.15297T>C (p.Phe5099=) | gnomAD v4 |
1 | g.19078012A>T | CA338748160 | UBR4 | c.15288T>A (p.Phe5096Leu) c.2409T>A (p.Phe803Leu) c.513T>A (p.Phe171Leu) n.3295T>A c.15441T>A (p.Phe5147Leu) c.15438T>A (p.Phe5146Leu) c.15426T>A (p.Phe5142Leu) c.15423T>A (p.Phe5141Leu) c.15417T>A (p.Phe5139Leu) c.15408T>A (p.Phe5136Leu) c.15357T>A (p.Phe5119Leu) c.15354T>A (p.Phe5118Leu) c.15321T>A (p.Phe5107Leu) c.15318T>A (p.Phe5106Leu) c.15285T>A (p.Phe5095Leu) c.15555T>A (p.Phe5185Leu) c.15552T>A (p.Phe5184Leu) c.15540T>A (p.Phe5180Leu) c.15537T>A (p.Phe5179Leu) c.15531T>A (p.Phe5177Leu) c.15522T>A (p.Phe5174Leu) c.15471T>A (p.Phe5157Leu) c.15468T>A (p.Phe5156Leu) c.15435T>A (p.Phe5145Leu) c.15432T>A (p.Phe5144Leu) c.15399T>A (p.Phe5133Leu) c.15534T>A (p.Phe5178Leu) c.15507T>A (p.Phe5169Leu) c.15453T>A (p.Phe5151Leu) c.15420T>A (p.Phe5140Leu) c.15396T>A (p.Phe5132Leu) c.15348T>A (p.Phe5116Leu) c.15297T>A (p.Phe5099Leu) | |
1 | g.19078013A>C | CA338748161 | UBR4 | c.15287T>G (p.Phe5096Cys) c.2408T>G (p.Phe803Cys) c.512T>G (p.Phe171Cys) n.3294T>G c.15440T>G (p.Phe5147Cys) c.15437T>G (p.Phe5146Cys) c.15425T>G (p.Phe5142Cys) c.15422T>G (p.Phe5141Cys) c.15416T>G (p.Phe5139Cys) c.15407T>G (p.Phe5136Cys) c.15356T>G (p.Phe5119Cys) c.15353T>G (p.Phe5118Cys) c.15320T>G (p.Phe5107Cys) c.15317T>G (p.Phe5106Cys) c.15284T>G (p.Phe5095Cys) c.15554T>G (p.Phe5185Cys) c.15551T>G (p.Phe5184Cys) c.15539T>G (p.Phe5180Cys) c.15536T>G (p.Phe5179Cys) c.15530T>G (p.Phe5177Cys) c.15521T>G (p.Phe5174Cys) c.15470T>G (p.Phe5157Cys) c.15467T>G (p.Phe5156Cys) c.15434T>G (p.Phe5145Cys) c.15431T>G (p.Phe5144Cys) c.15398T>G (p.Phe5133Cys) c.15533T>G (p.Phe5178Cys) c.15506T>G (p.Phe5169Cys) c.15452T>G (p.Phe5151Cys) c.15419T>G (p.Phe5140Cys) c.15395T>G (p.Phe5132Cys) c.15347T>G (p.Phe5116Cys) c.15296T>G (p.Phe5099Cys) | |
1 | g.19078013A>G | CA338748162 | UBR4 | c.15287T>C (p.Phe5096Ser) c.2408T>C (p.Phe803Ser) c.512T>C (p.Phe171Ser) n.3294T>C c.15440T>C (p.Phe5147Ser) c.15437T>C (p.Phe5146Ser) c.15425T>C (p.Phe5142Ser) c.15422T>C (p.Phe5141Ser) c.15416T>C (p.Phe5139Ser) c.15407T>C (p.Phe5136Ser) c.15356T>C (p.Phe5119Ser) c.15353T>C (p.Phe5118Ser) c.15320T>C (p.Phe5107Ser) c.15317T>C (p.Phe5106Ser) c.15284T>C (p.Phe5095Ser) c.15554T>C (p.Phe5185Ser) c.15551T>C (p.Phe5184Ser) c.15539T>C (p.Phe5180Ser) c.15536T>C (p.Phe5179Ser) c.15530T>C (p.Phe5177Ser) c.15521T>C (p.Phe5174Ser) c.15470T>C (p.Phe5157Ser) c.15467T>C (p.Phe5156Ser) c.15434T>C (p.Phe5145Ser) c.15431T>C (p.Phe5144Ser) c.15398T>C (p.Phe5133Ser) c.15533T>C (p.Phe5178Ser) c.15506T>C (p.Phe5169Ser) c.15452T>C (p.Phe5151Ser) c.15419T>C (p.Phe5140Ser) c.15395T>C (p.Phe5132Ser) c.15347T>C (p.Phe5116Ser) c.15296T>C (p.Phe5099Ser) | |
1 | g.19078013A>T | CA338748163 | UBR4 | c.15287T>A (p.Phe5096Tyr) c.2408T>A (p.Phe803Tyr) c.512T>A (p.Phe171Tyr) n.3294T>A c.15440T>A (p.Phe5147Tyr) c.15437T>A (p.Phe5146Tyr) c.15425T>A (p.Phe5142Tyr) c.15422T>A (p.Phe5141Tyr) c.15416T>A (p.Phe5139Tyr) c.15407T>A (p.Phe5136Tyr) c.15356T>A (p.Phe5119Tyr) c.15353T>A (p.Phe5118Tyr) c.15320T>A (p.Phe5107Tyr) c.15317T>A (p.Phe5106Tyr) c.15284T>A (p.Phe5095Tyr) c.15554T>A (p.Phe5185Tyr) c.15551T>A (p.Phe5184Tyr) c.15539T>A (p.Phe5180Tyr) c.15536T>A (p.Phe5179Tyr) c.15530T>A (p.Phe5177Tyr) c.15521T>A (p.Phe5174Tyr) c.15470T>A (p.Phe5157Tyr) c.15467T>A (p.Phe5156Tyr) c.15434T>A (p.Phe5145Tyr) c.15431T>A (p.Phe5144Tyr) c.15398T>A (p.Phe5133Tyr) c.15533T>A (p.Phe5178Tyr) c.15506T>A (p.Phe5169Tyr) c.15452T>A (p.Phe5151Tyr) c.15419T>A (p.Phe5140Tyr) c.15395T>A (p.Phe5132Tyr) c.15347T>A (p.Phe5116Tyr) c.15296T>A (p.Phe5099Tyr) | |
1 | g.19078014A>C | CA338748164 | UBR4 | c.15286T>G (p.Phe5096Val) c.2407T>G (p.Phe803Val) c.511T>G (p.Phe171Val) n.3293T>G c.15439T>G (p.Phe5147Val) c.15436T>G (p.Phe5146Val) c.15424T>G (p.Phe5142Val) c.15421T>G (p.Phe5141Val) c.15415T>G (p.Phe5139Val) c.15406T>G (p.Phe5136Val) c.15355T>G (p.Phe5119Val) c.15352T>G (p.Phe5118Val) c.15319T>G (p.Phe5107Val) c.15316T>G (p.Phe5106Val) c.15283T>G (p.Phe5095Val) c.15553T>G (p.Phe5185Val) c.15550T>G (p.Phe5184Val) c.15538T>G (p.Phe5180Val) c.15535T>G (p.Phe5179Val) c.15529T>G (p.Phe5177Val) c.15520T>G (p.Phe5174Val) c.15469T>G (p.Phe5157Val) c.15466T>G (p.Phe5156Val) c.15433T>G (p.Phe5145Val) c.15430T>G (p.Phe5144Val) c.15397T>G (p.Phe5133Val) c.15532T>G (p.Phe5178Val) c.15505T>G (p.Phe5169Val) c.15451T>G (p.Phe5151Val) c.15418T>G (p.Phe5140Val) c.15394T>G (p.Phe5132Val) c.15346T>G (p.Phe5116Val) c.15295T>G (p.Phe5099Val) | |
1 | g.19078014A>G | CA338748165 | UBR4 | c.15286T>C (p.Phe5096Leu) c.2407T>C (p.Phe803Leu) c.511T>C (p.Phe171Leu) n.3293T>C c.15439T>C (p.Phe5147Leu) c.15436T>C (p.Phe5146Leu) c.15424T>C (p.Phe5142Leu) c.15421T>C (p.Phe5141Leu) c.15415T>C (p.Phe5139Leu) c.15406T>C (p.Phe5136Leu) c.15355T>C (p.Phe5119Leu) c.15352T>C (p.Phe5118Leu) c.15319T>C (p.Phe5107Leu) c.15316T>C (p.Phe5106Leu) c.15283T>C (p.Phe5095Leu) c.15553T>C (p.Phe5185Leu) c.15550T>C (p.Phe5184Leu) c.15538T>C (p.Phe5180Leu) c.15535T>C (p.Phe5179Leu) c.15529T>C (p.Phe5177Leu) c.15520T>C (p.Phe5174Leu) c.15469T>C (p.Phe5157Leu) c.15466T>C (p.Phe5156Leu) c.15433T>C (p.Phe5145Leu) c.15430T>C (p.Phe5144Leu) c.15397T>C (p.Phe5133Leu) c.15532T>C (p.Phe5178Leu) c.15505T>C (p.Phe5169Leu) c.15451T>C (p.Phe5151Leu) c.15418T>C (p.Phe5140Leu) c.15394T>C (p.Phe5132Leu) c.15346T>C (p.Phe5116Leu) c.15295T>C (p.Phe5099Leu) | |
1 | g.19078014A>T | CA338748166 | UBR4 | c.15286T>A (p.Phe5096Ile) c.2407T>A (p.Phe803Ile) c.511T>A (p.Phe171Ile) n.3293T>A c.15439T>A (p.Phe5147Ile) c.15436T>A (p.Phe5146Ile) c.15424T>A (p.Phe5142Ile) c.15421T>A (p.Phe5141Ile) c.15415T>A (p.Phe5139Ile) c.15406T>A (p.Phe5136Ile) c.15355T>A (p.Phe5119Ile) c.15352T>A (p.Phe5118Ile) c.15319T>A (p.Phe5107Ile) c.15316T>A (p.Phe5106Ile) c.15283T>A (p.Phe5095Ile) c.15553T>A (p.Phe5185Ile) c.15550T>A (p.Phe5184Ile) c.15538T>A (p.Phe5180Ile) c.15535T>A (p.Phe5179Ile) c.15529T>A (p.Phe5177Ile) c.15520T>A (p.Phe5174Ile) c.15469T>A (p.Phe5157Ile) c.15466T>A (p.Phe5156Ile) c.15433T>A (p.Phe5145Ile) c.15430T>A (p.Phe5144Ile) c.15397T>A (p.Phe5133Ile) c.15532T>A (p.Phe5178Ile) c.15505T>A (p.Phe5169Ile) c.15451T>A (p.Phe5151Ile) c.15418T>A (p.Phe5140Ile) c.15394T>A (p.Phe5132Ile) c.15346T>A (p.Phe5116Ile) c.15295T>A (p.Phe5099Ile) | |
1 | g.19078015G>A | CA416453125 | UBR4 | c.15285C>T (p.Leu5095=) c.2406C>T (p.Leu802=) c.510C>T (p.Leu170=) n.3292C>T c.15438C>T (p.Leu5146=) c.15435C>T (p.Leu5145=) c.15423C>T (p.Leu5141=) c.15420C>T (p.Leu5140=) c.15414C>T (p.Leu5138=) c.15405C>T (p.Leu5135=) c.15354C>T (p.Leu5118=) c.15351C>T (p.Leu5117=) c.15318C>T (p.Leu5106=) c.15315C>T (p.Leu5105=) c.15282C>T (p.Leu5094=) c.15552C>T (p.Leu5184=) c.15549C>T (p.Leu5183=) c.15537C>T (p.Leu5179=) c.15534C>T (p.Leu5178=) c.15528C>T (p.Leu5176=) c.15519C>T (p.Leu5173=) c.15468C>T (p.Leu5156=) c.15465C>T (p.Leu5155=) c.15432C>T (p.Leu5144=) c.15429C>T (p.Leu5143=) c.15396C>T (p.Leu5132=) c.15531C>T (p.Leu5177=) c.15504C>T (p.Leu5168=) c.15450C>T (p.Leu5150=) c.15417C>T (p.Leu5139=) c.15393C>T (p.Leu5131=) c.15345C>T (p.Leu5115=) c.15294C>T (p.Leu5098=) | |
1 | g.19078015G>C | CA416453122 | UBR4 | c.15285C>G (p.Leu5095=) c.2406C>G (p.Leu802=) c.510C>G (p.Leu170=) n.3292C>G c.15438C>G (p.Leu5146=) c.15435C>G (p.Leu5145=) c.15423C>G (p.Leu5141=) c.15420C>G (p.Leu5140=) c.15414C>G (p.Leu5138=) c.15405C>G (p.Leu5135=) c.15354C>G (p.Leu5118=) c.15351C>G (p.Leu5117=) c.15318C>G (p.Leu5106=) c.15315C>G (p.Leu5105=) c.15282C>G (p.Leu5094=) c.15552C>G (p.Leu5184=) c.15549C>G (p.Leu5183=) c.15537C>G (p.Leu5179=) c.15534C>G (p.Leu5178=) c.15528C>G (p.Leu5176=) c.15519C>G (p.Leu5173=) c.15468C>G (p.Leu5156=) c.15465C>G (p.Leu5155=) c.15432C>G (p.Leu5144=) c.15429C>G (p.Leu5143=) c.15396C>G (p.Leu5132=) c.15531C>G (p.Leu5177=) c.15504C>G (p.Leu5168=) c.15450C>G (p.Leu5150=) c.15417C>G (p.Leu5139=) c.15393C>G (p.Leu5131=) c.15345C>G (p.Leu5115=) c.15294C>G (p.Leu5098=) | |
1 | g.19078015G>T | CA416453124 | UBR4 | c.15285C>A (p.Leu5095=) c.2406C>A (p.Leu802=) c.510C>A (p.Leu170=) n.3292C>A c.15438C>A (p.Leu5146=) c.15435C>A (p.Leu5145=) c.15423C>A (p.Leu5141=) c.15420C>A (p.Leu5140=) c.15414C>A (p.Leu5138=) c.15405C>A (p.Leu5135=) c.15354C>A (p.Leu5118=) c.15351C>A (p.Leu5117=) c.15318C>A (p.Leu5106=) c.15315C>A (p.Leu5105=) c.15282C>A (p.Leu5094=) c.15552C>A (p.Leu5184=) c.15549C>A (p.Leu5183=) c.15537C>A (p.Leu5179=) c.15534C>A (p.Leu5178=) c.15528C>A (p.Leu5176=) c.15519C>A (p.Leu5173=) c.15468C>A (p.Leu5156=) c.15465C>A (p.Leu5155=) c.15432C>A (p.Leu5144=) c.15429C>A (p.Leu5143=) c.15396C>A (p.Leu5132=) c.15531C>A (p.Leu5177=) c.15504C>A (p.Leu5168=) c.15450C>A (p.Leu5150=) c.15417C>A (p.Leu5139=) c.15393C>A (p.Leu5131=) c.15345C>A (p.Leu5115=) c.15294C>A (p.Leu5098=) | gnomAD v4 |
1 | g.19078016del | CA2742695864 | UBR4 | c.15284del (p.Leu5095ProfsTer?) c.2405del (p.Leu802ProfsTer?) c.509del (p.Leu170ProfsTer?) n.3291del c.15437del (p.Leu5146ProfsTer?) c.15434del (p.Leu5145ProfsTer?) c.15422del (p.Leu5141ProfsTer?) c.15419del (p.Leu5140ProfsTer?) c.15413del (p.Leu5138ProfsTer?) c.15404del (p.Leu5135ProfsTer?) c.15353del (p.Leu5118ProfsTer?) c.15350del (p.Leu5117ProfsTer?) c.15317del (p.Leu5106ProfsTer?) c.15314del (p.Leu5105ProfsTer?) c.15281del (p.Leu5094ProfsTer?) c.15551del (p.Leu5184ProfsTer?) c.15548del (p.Leu5183ProfsTer?) c.15536del (p.Leu5179ProfsTer?) c.15533del (p.Leu5178ProfsTer?) c.15527del (p.Leu5176ProfsTer?) c.15518del (p.Leu5173ProfsTer?) c.15467del (p.Leu5156ProfsTer?) c.15464del (p.Leu5155ProfsTer?) c.15431del (p.Leu5144ProfsTer?) c.15428del (p.Leu5143ProfsTer?) c.15395del (p.Leu5132ProfsTer?) c.15530del (p.Leu5177ProfsTer?) c.15503del (p.Leu5168ProfsTer?) c.15449del (p.Leu5150ProfsTer?) c.15416del (p.Leu5139ProfsTer?) c.15392del (p.Leu5131ProfsTer?) c.15344del (p.Leu5115ProfsTer?) c.15293del (p.Leu5098ProfsTer?) | |
1 | g.19078016A>C | CA338748167 | UBR4 | c.15284T>G (p.Leu5095Arg) c.2405T>G (p.Leu802Arg) c.509T>G (p.Leu170Arg) n.3291T>G c.15437T>G (p.Leu5146Arg) c.15434T>G (p.Leu5145Arg) c.15422T>G (p.Leu5141Arg) c.15419T>G (p.Leu5140Arg) c.15413T>G (p.Leu5138Arg) c.15404T>G (p.Leu5135Arg) c.15353T>G (p.Leu5118Arg) c.15350T>G (p.Leu5117Arg) c.15317T>G (p.Leu5106Arg) c.15314T>G (p.Leu5105Arg) c.15281T>G (p.Leu5094Arg) c.15551T>G (p.Leu5184Arg) c.15548T>G (p.Leu5183Arg) c.15536T>G (p.Leu5179Arg) c.15533T>G (p.Leu5178Arg) c.15527T>G (p.Leu5176Arg) c.15518T>G (p.Leu5173Arg) c.15467T>G (p.Leu5156Arg) c.15464T>G (p.Leu5155Arg) c.15431T>G (p.Leu5144Arg) c.15428T>G (p.Leu5143Arg) c.15395T>G (p.Leu5132Arg) c.15530T>G (p.Leu5177Arg) c.15503T>G (p.Leu5168Arg) c.15449T>G (p.Leu5150Arg) c.15416T>G (p.Leu5139Arg) c.15392T>G (p.Leu5131Arg) c.15344T>G (p.Leu5115Arg) c.15293T>G (p.Leu5098Arg) | |
1 | g.19078016A>G | CA338748168 | UBR4 | c.15284T>C (p.Leu5095Pro) c.2405T>C (p.Leu802Pro) c.509T>C (p.Leu170Pro) n.3291T>C c.15437T>C (p.Leu5146Pro) c.15434T>C (p.Leu5145Pro) c.15422T>C (p.Leu5141Pro) c.15419T>C (p.Leu5140Pro) c.15413T>C (p.Leu5138Pro) c.15404T>C (p.Leu5135Pro) c.15353T>C (p.Leu5118Pro) c.15350T>C (p.Leu5117Pro) c.15317T>C (p.Leu5106Pro) c.15314T>C (p.Leu5105Pro) c.15281T>C (p.Leu5094Pro) c.15551T>C (p.Leu5184Pro) c.15548T>C (p.Leu5183Pro) c.15536T>C (p.Leu5179Pro) c.15533T>C (p.Leu5178Pro) c.15527T>C (p.Leu5176Pro) c.15518T>C (p.Leu5173Pro) c.15467T>C (p.Leu5156Pro) c.15464T>C (p.Leu5155Pro) c.15431T>C (p.Leu5144Pro) c.15428T>C (p.Leu5143Pro) c.15395T>C (p.Leu5132Pro) c.15530T>C (p.Leu5177Pro) c.15503T>C (p.Leu5168Pro) c.15449T>C (p.Leu5150Pro) c.15416T>C (p.Leu5139Pro) c.15392T>C (p.Leu5131Pro) c.15344T>C (p.Leu5115Pro) c.15293T>C (p.Leu5098Pro) | |
1 | g.19078016A>T | CA338748169 | UBR4 | c.15284T>A (p.Leu5095His) c.2405T>A (p.Leu802His) c.509T>A (p.Leu170His) n.3291T>A c.15437T>A (p.Leu5146His) c.15434T>A (p.Leu5145His) c.15422T>A (p.Leu5141His) c.15419T>A (p.Leu5140His) c.15413T>A (p.Leu5138His) c.15404T>A (p.Leu5135His) c.15353T>A (p.Leu5118His) c.15350T>A (p.Leu5117His) c.15317T>A (p.Leu5106His) c.15314T>A (p.Leu5105His) c.15281T>A (p.Leu5094His) c.15551T>A (p.Leu5184His) c.15548T>A (p.Leu5183His) c.15536T>A (p.Leu5179His) c.15533T>A (p.Leu5178His) c.15527T>A (p.Leu5176His) c.15518T>A (p.Leu5173His) c.15467T>A (p.Leu5156His) c.15464T>A (p.Leu5155His) c.15431T>A (p.Leu5144His) c.15428T>A (p.Leu5143His) c.15395T>A (p.Leu5132His) c.15530T>A (p.Leu5177His) c.15503T>A (p.Leu5168His) c.15449T>A (p.Leu5150His) c.15416T>A (p.Leu5139His) c.15392T>A (p.Leu5131His) c.15344T>A (p.Leu5115His) c.15293T>A (p.Leu5098His) | |
1 | g.19078017G>A | CA338748170 | UBR4 | c.15283C>T (p.Leu5095Phe) c.2404C>T (p.Leu802Phe) c.508C>T (p.Leu170Phe) n.3290C>T c.15436C>T (p.Leu5146Phe) c.15433C>T (p.Leu5145Phe) c.15421C>T (p.Leu5141Phe) c.15418C>T (p.Leu5140Phe) c.15412C>T (p.Leu5138Phe) c.15403C>T (p.Leu5135Phe) c.15352C>T (p.Leu5118Phe) c.15349C>T (p.Leu5117Phe) c.15316C>T (p.Leu5106Phe) c.15313C>T (p.Leu5105Phe) c.15280C>T (p.Leu5094Phe) c.15550C>T (p.Leu5184Phe) c.15547C>T (p.Leu5183Phe) c.15535C>T (p.Leu5179Phe) c.15532C>T (p.Leu5178Phe) c.15526C>T (p.Leu5176Phe) c.15517C>T (p.Leu5173Phe) c.15466C>T (p.Leu5156Phe) c.15463C>T (p.Leu5155Phe) c.15430C>T (p.Leu5144Phe) c.15427C>T (p.Leu5143Phe) c.15394C>T (p.Leu5132Phe) c.15529C>T (p.Leu5177Phe) c.15502C>T (p.Leu5168Phe) c.15448C>T (p.Leu5150Phe) c.15415C>T (p.Leu5139Phe) c.15391C>T (p.Leu5131Phe) c.15343C>T (p.Leu5115Phe) c.15292C>T (p.Leu5098Phe) | |
1 | g.19078017G>C | CA338748172 | UBR4 | c.15283C>G (p.Leu5095Val) c.2404C>G (p.Leu802Val) c.508C>G (p.Leu170Val) n.3290C>G c.15436C>G (p.Leu5146Val) c.15433C>G (p.Leu5145Val) c.15421C>G (p.Leu5141Val) c.15418C>G (p.Leu5140Val) c.15412C>G (p.Leu5138Val) c.15403C>G (p.Leu5135Val) c.15352C>G (p.Leu5118Val) c.15349C>G (p.Leu5117Val) c.15316C>G (p.Leu5106Val) c.15313C>G (p.Leu5105Val) c.15280C>G (p.Leu5094Val) c.15550C>G (p.Leu5184Val) c.15547C>G (p.Leu5183Val) c.15535C>G (p.Leu5179Val) c.15532C>G (p.Leu5178Val) c.15526C>G (p.Leu5176Val) c.15517C>G (p.Leu5173Val) c.15466C>G (p.Leu5156Val) c.15463C>G (p.Leu5155Val) c.15430C>G (p.Leu5144Val) c.15427C>G (p.Leu5143Val) c.15394C>G (p.Leu5132Val) c.15529C>G (p.Leu5177Val) c.15502C>G (p.Leu5168Val) c.15448C>G (p.Leu5150Val) c.15415C>G (p.Leu5139Val) c.15391C>G (p.Leu5131Val) c.15343C>G (p.Leu5115Val) c.15292C>G (p.Leu5098Val) | |
1 | g.19078017G>T | CA338748174 | UBR4 | c.15283C>A (p.Leu5095Ile) c.2404C>A (p.Leu802Ile) c.508C>A (p.Leu170Ile) n.3290C>A c.15436C>A (p.Leu5146Ile) c.15433C>A (p.Leu5145Ile) c.15421C>A (p.Leu5141Ile) c.15418C>A (p.Leu5140Ile) c.15412C>A (p.Leu5138Ile) c.15403C>A (p.Leu5135Ile) c.15352C>A (p.Leu5118Ile) c.15349C>A (p.Leu5117Ile) c.15316C>A (p.Leu5106Ile) c.15313C>A (p.Leu5105Ile) c.15280C>A (p.Leu5094Ile) c.15550C>A (p.Leu5184Ile) c.15547C>A (p.Leu5183Ile) c.15535C>A (p.Leu5179Ile) c.15532C>A (p.Leu5178Ile) c.15526C>A (p.Leu5176Ile) c.15517C>A (p.Leu5173Ile) c.15466C>A (p.Leu5156Ile) c.15463C>A (p.Leu5155Ile) c.15430C>A (p.Leu5144Ile) c.15427C>A (p.Leu5143Ile) c.15394C>A (p.Leu5132Ile) c.15529C>A (p.Leu5177Ile) c.15502C>A (p.Leu5168Ile) c.15448C>A (p.Leu5150Ile) c.15415C>A (p.Leu5139Ile) c.15391C>A (p.Leu5131Ile) c.15343C>A (p.Leu5115Ile) c.15292C>A (p.Leu5098Ile) | gnomAD v4 |
1 | g.19078018A>C | CA416453132 | UBR4 | c.15282T>G (p.Leu5094=) c.2403T>G (p.Leu801=) c.507T>G (p.Leu169=) n.3289T>G c.15435T>G (p.Leu5145=) c.15432T>G (p.Leu5144=) c.15420T>G (p.Leu5140=) c.15417T>G (p.Leu5139=) c.15411T>G (p.Leu5137=) c.15402T>G (p.Leu5134=) c.15351T>G (p.Leu5117=) c.15348T>G (p.Leu5116=) c.15315T>G (p.Leu5105=) c.15312T>G (p.Leu5104=) c.15279T>G (p.Leu5093=) c.15549T>G (p.Leu5183=) c.15546T>G (p.Leu5182=) c.15534T>G (p.Leu5178=) c.15531T>G (p.Leu5177=) c.15525T>G (p.Leu5175=) c.15516T>G (p.Leu5172=) c.15465T>G (p.Leu5155=) c.15462T>G (p.Leu5154=) c.15429T>G (p.Leu5143=) c.15426T>G (p.Leu5142=) c.15393T>G (p.Leu5131=) c.15528T>G (p.Leu5176=) c.15501T>G (p.Leu5167=) c.15447T>G (p.Leu5149=) c.15414T>G (p.Leu5138=) c.15390T>G (p.Leu5130=) c.15342T>G (p.Leu5114=) c.15291T>G (p.Leu5097=) | |
1 | g.19078018A>G | CA416453134 | UBR4 | c.15282T>C (p.Leu5094=) c.2403T>C (p.Leu801=) c.507T>C (p.Leu169=) n.3289T>C c.15435T>C (p.Leu5145=) c.15432T>C (p.Leu5144=) c.15420T>C (p.Leu5140=) c.15417T>C (p.Leu5139=) c.15411T>C (p.Leu5137=) c.15402T>C (p.Leu5134=) c.15351T>C (p.Leu5117=) c.15348T>C (p.Leu5116=) c.15315T>C (p.Leu5105=) c.15312T>C (p.Leu5104=) c.15279T>C (p.Leu5093=) c.15549T>C (p.Leu5183=) c.15546T>C (p.Leu5182=) c.15534T>C (p.Leu5178=) c.15531T>C (p.Leu5177=) c.15525T>C (p.Leu5175=) c.15516T>C (p.Leu5172=) c.15465T>C (p.Leu5155=) c.15462T>C (p.Leu5154=) c.15429T>C (p.Leu5143=) c.15426T>C (p.Leu5142=) c.15393T>C (p.Leu5131=) c.15528T>C (p.Leu5176=) c.15501T>C (p.Leu5167=) c.15447T>C (p.Leu5149=) c.15414T>C (p.Leu5138=) c.15390T>C (p.Leu5130=) c.15342T>C (p.Leu5114=) c.15291T>C (p.Leu5097=) | |
1 | g.19078018A>T | CA416453136 | UBR4 | c.15282T>A (p.Leu5094=) c.2403T>A (p.Leu801=) c.507T>A (p.Leu169=) n.3289T>A c.15435T>A (p.Leu5145=) c.15432T>A (p.Leu5144=) c.15420T>A (p.Leu5140=) c.15417T>A (p.Leu5139=) c.15411T>A (p.Leu5137=) c.15402T>A (p.Leu5134=) c.15351T>A (p.Leu5117=) c.15348T>A (p.Leu5116=) c.15315T>A (p.Leu5105=) c.15312T>A (p.Leu5104=) c.15279T>A (p.Leu5093=) c.15549T>A (p.Leu5183=) c.15546T>A (p.Leu5182=) c.15534T>A (p.Leu5178=) c.15531T>A (p.Leu5177=) c.15525T>A (p.Leu5175=) c.15516T>A (p.Leu5172=) c.15465T>A (p.Leu5155=) c.15462T>A (p.Leu5154=) c.15429T>A (p.Leu5143=) c.15426T>A (p.Leu5142=) c.15393T>A (p.Leu5131=) c.15528T>A (p.Leu5176=) c.15501T>A (p.Leu5167=) c.15447T>A (p.Leu5149=) c.15414T>A (p.Leu5138=) c.15390T>A (p.Leu5130=) c.15342T>A (p.Leu5114=) c.15291T>A (p.Leu5097=) | |
1 | g.19078019A>C | CA338748177 | UBR4 | c.15281T>G (p.Leu5094Arg) c.2402T>G (p.Leu801Arg) c.506T>G (p.Leu169Arg) n.3288T>G c.15434T>G (p.Leu5145Arg) c.15431T>G (p.Leu5144Arg) c.15419T>G (p.Leu5140Arg) c.15416T>G (p.Leu5139Arg) c.15410T>G (p.Leu5137Arg) c.15401T>G (p.Leu5134Arg) c.15350T>G (p.Leu5117Arg) c.15347T>G (p.Leu5116Arg) c.15314T>G (p.Leu5105Arg) c.15311T>G (p.Leu5104Arg) c.15278T>G (p.Leu5093Arg) c.15548T>G (p.Leu5183Arg) c.15545T>G (p.Leu5182Arg) c.15533T>G (p.Leu5178Arg) c.15530T>G (p.Leu5177Arg) c.15524T>G (p.Leu5175Arg) c.15515T>G (p.Leu5172Arg) c.15464T>G (p.Leu5155Arg) c.15461T>G (p.Leu5154Arg) c.15428T>G (p.Leu5143Arg) c.15425T>G (p.Leu5142Arg) c.15392T>G (p.Leu5131Arg) c.15527T>G (p.Leu5176Arg) c.15500T>G (p.Leu5167Arg) c.15446T>G (p.Leu5149Arg) c.15413T>G (p.Leu5138Arg) c.15389T>G (p.Leu5130Arg) c.15341T>G (p.Leu5114Arg) c.15290T>G (p.Leu5097Arg) | |
1 | g.19078019A>G | CA338748180 | UBR4 | c.15281T>C (p.Leu5094Pro) c.2402T>C (p.Leu801Pro) c.506T>C (p.Leu169Pro) n.3288T>C c.15434T>C (p.Leu5145Pro) c.15431T>C (p.Leu5144Pro) c.15419T>C (p.Leu5140Pro) c.15416T>C (p.Leu5139Pro) c.15410T>C (p.Leu5137Pro) c.15401T>C (p.Leu5134Pro) c.15350T>C (p.Leu5117Pro) c.15347T>C (p.Leu5116Pro) c.15314T>C (p.Leu5105Pro) c.15311T>C (p.Leu5104Pro) c.15278T>C (p.Leu5093Pro) c.15548T>C (p.Leu5183Pro) c.15545T>C (p.Leu5182Pro) c.15533T>C (p.Leu5178Pro) c.15530T>C (p.Leu5177Pro) c.15524T>C (p.Leu5175Pro) c.15515T>C (p.Leu5172Pro) c.15464T>C (p.Leu5155Pro) c.15461T>C (p.Leu5154Pro) c.15428T>C (p.Leu5143Pro) c.15425T>C (p.Leu5142Pro) c.15392T>C (p.Leu5131Pro) c.15527T>C (p.Leu5176Pro) c.15500T>C (p.Leu5167Pro) c.15446T>C (p.Leu5149Pro) c.15413T>C (p.Leu5138Pro) c.15389T>C (p.Leu5130Pro) c.15341T>C (p.Leu5114Pro) c.15290T>C (p.Leu5097Pro) | |
1 | g.19078019A>T | CA338748176 | UBR4 | c.15281T>A (p.Leu5094His) c.2402T>A (p.Leu801His) c.506T>A (p.Leu169His) n.3288T>A c.15434T>A (p.Leu5145His) c.15431T>A (p.Leu5144His) c.15419T>A (p.Leu5140His) c.15416T>A (p.Leu5139His) c.15410T>A (p.Leu5137His) c.15401T>A (p.Leu5134His) c.15350T>A (p.Leu5117His) c.15347T>A (p.Leu5116His) c.15314T>A (p.Leu5105His) c.15311T>A (p.Leu5104His) c.15278T>A (p.Leu5093His) c.15548T>A (p.Leu5183His) c.15545T>A (p.Leu5182His) c.15533T>A (p.Leu5178His) c.15530T>A (p.Leu5177His) c.15524T>A (p.Leu5175His) c.15515T>A (p.Leu5172His) c.15464T>A (p.Leu5155His) c.15461T>A (p.Leu5154His) c.15428T>A (p.Leu5143His) c.15425T>A (p.Leu5142His) c.15392T>A (p.Leu5131His) c.15527T>A (p.Leu5176His) c.15500T>A (p.Leu5167His) c.15446T>A (p.Leu5149His) c.15413T>A (p.Leu5138His) c.15389T>A (p.Leu5130His) c.15341T>A (p.Leu5114His) c.15290T>A (p.Leu5097His) | |
1 | g.19078020G>A | CA647918 | UBR4 | c.15280C>T (p.Leu5094Phe) c.2401C>T (p.Leu801Phe) c.505C>T (p.Leu169Phe) n.3287C>T c.15433C>T (p.Leu5145Phe) c.15430C>T (p.Leu5144Phe) c.15418C>T (p.Leu5140Phe) c.15415C>T (p.Leu5139Phe) c.15409C>T (p.Leu5137Phe) c.15400C>T (p.Leu5134Phe) c.15349C>T (p.Leu5117Phe) c.15346C>T (p.Leu5116Phe) c.15313C>T (p.Leu5105Phe) c.15310C>T (p.Leu5104Phe) c.15277C>T (p.Leu5093Phe) c.15547C>T (p.Leu5183Phe) c.15544C>T (p.Leu5182Phe) c.15532C>T (p.Leu5178Phe) c.15529C>T (p.Leu5177Phe) c.15523C>T (p.Leu5175Phe) c.15514C>T (p.Leu5172Phe) c.15463C>T (p.Leu5155Phe) c.15460C>T (p.Leu5154Phe) c.15427C>T (p.Leu5143Phe) c.15424C>T (p.Leu5142Phe) c.15391C>T (p.Leu5131Phe) c.15526C>T (p.Leu5176Phe) c.15499C>T (p.Leu5167Phe) c.15445C>T (p.Leu5149Phe) c.15412C>T (p.Leu5138Phe) c.15388C>T (p.Leu5130Phe) c.15340C>T (p.Leu5114Phe) c.15289C>T (p.Leu5097Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.19078020G>C | CA338748182 | UBR4 | c.15280C>G (p.Leu5094Val) c.2401C>G (p.Leu801Val) c.505C>G (p.Leu169Val) n.3287C>G c.15433C>G (p.Leu5145Val) c.15430C>G (p.Leu5144Val) c.15418C>G (p.Leu5140Val) c.15415C>G (p.Leu5139Val) c.15409C>G (p.Leu5137Val) c.15400C>G (p.Leu5134Val) c.15349C>G (p.Leu5117Val) c.15346C>G (p.Leu5116Val) c.15313C>G (p.Leu5105Val) c.15310C>G (p.Leu5104Val) c.15277C>G (p.Leu5093Val) c.15547C>G (p.Leu5183Val) c.15544C>G (p.Leu5182Val) c.15532C>G (p.Leu5178Val) c.15529C>G (p.Leu5177Val) c.15523C>G (p.Leu5175Val) c.15514C>G (p.Leu5172Val) c.15463C>G (p.Leu5155Val) c.15460C>G (p.Leu5154Val) c.15427C>G (p.Leu5143Val) c.15424C>G (p.Leu5142Val) c.15391C>G (p.Leu5131Val) c.15526C>G (p.Leu5176Val) c.15499C>G (p.Leu5167Val) c.15445C>G (p.Leu5149Val) c.15412C>G (p.Leu5138Val) c.15388C>G (p.Leu5130Val) c.15340C>G (p.Leu5114Val) c.15289C>G (p.Leu5097Val) | |
1 | g.19078020G= | CA1141700727 | UBR4 | c.15280C= (p.Leu5094=) c.2401C= (p.Leu801=) c.505C= (p.Leu169=) n.3287C= c.15433C= (p.Leu5145=) c.15430C= (p.Leu5144=) c.15418C= (p.Leu5140=) c.15415C= (p.Leu5139=) c.15409C= (p.Leu5137=) c.15400C= (p.Leu5134=) c.15349C= (p.Leu5117=) c.15346C= (p.Leu5116=) c.15313C= (p.Leu5105=) c.15310C= (p.Leu5104=) c.15277C= (p.Leu5093=) c.15547C= (p.Leu5183=) c.15544C= (p.Leu5182=) c.15532C= (p.Leu5178=) c.15529C= (p.Leu5177=) c.15523C= (p.Leu5175=) c.15514C= (p.Leu5172=) c.15463C= (p.Leu5155=) c.15460C= (p.Leu5154=) c.15427C= (p.Leu5143=) c.15424C= (p.Leu5142=) c.15391C= (p.Leu5131=) c.15526C= (p.Leu5176=) c.15499C= (p.Leu5167=) c.15445C= (p.Leu5149=) c.15412C= (p.Leu5138=) c.15388C= (p.Leu5130=) c.15340C= (p.Leu5114=) c.15289C= (p.Leu5097=) | |
1 | g.19078020G>T | CA338748184 | UBR4 | c.15280C>A (p.Leu5094Ile) c.2401C>A (p.Leu801Ile) c.505C>A (p.Leu169Ile) n.3287C>A c.15433C>A (p.Leu5145Ile) c.15430C>A (p.Leu5144Ile) c.15418C>A (p.Leu5140Ile) c.15415C>A (p.Leu5139Ile) c.15409C>A (p.Leu5137Ile) c.15400C>A (p.Leu5134Ile) c.15349C>A (p.Leu5117Ile) c.15346C>A (p.Leu5116Ile) c.15313C>A (p.Leu5105Ile) c.15310C>A (p.Leu5104Ile) c.15277C>A (p.Leu5093Ile) c.15547C>A (p.Leu5183Ile) c.15544C>A (p.Leu5182Ile) c.15532C>A (p.Leu5178Ile) c.15529C>A (p.Leu5177Ile) c.15523C>A (p.Leu5175Ile) c.15514C>A (p.Leu5172Ile) c.15463C>A (p.Leu5155Ile) c.15460C>A (p.Leu5154Ile) c.15427C>A (p.Leu5143Ile) c.15424C>A (p.Leu5142Ile) c.15391C>A (p.Leu5131Ile) c.15526C>A (p.Leu5176Ile) c.15499C>A (p.Leu5167Ile) c.15445C>A (p.Leu5149Ile) c.15412C>A (p.Leu5138Ile) c.15388C>A (p.Leu5130Ile) c.15340C>A (p.Leu5114Ile) c.15289C>A (p.Leu5097Ile) | |
1 | g.19078021G>A | CA647919 | UBR4 | c.15279C>T (p.Ser5093=) c.2400C>T (p.Ser800=) c.504C>T (p.Ser168=) n.3286C>T c.15432C>T (p.Ser5144=) c.15429C>T (p.Ser5143=) c.15417C>T (p.Ser5139=) c.15414C>T (p.Ser5138=) c.15408C>T (p.Ser5136=) c.15399C>T (p.Ser5133=) c.15348C>T (p.Ser5116=) c.15345C>T (p.Ser5115=) c.15312C>T (p.Ser5104=) c.15309C>T (p.Ser5103=) c.15276C>T (p.Ser5092=) c.15546C>T (p.Ser5182=) c.15543C>T (p.Ser5181=) c.15531C>T (p.Ser5177=) c.15528C>T (p.Ser5176=) c.15522C>T (p.Ser5174=) c.15513C>T (p.Ser5171=) c.15462C>T (p.Ser5154=) c.15459C>T (p.Ser5153=) c.15426C>T (p.Ser5142=) c.15423C>T (p.Ser5141=) c.15390C>T (p.Ser5130=) c.15525C>T (p.Ser5175=) c.15498C>T (p.Ser5166=) c.15444C>T (p.Ser5148=) c.15411C>T (p.Ser5137=) c.15387C>T (p.Ser5129=) c.15339C>T (p.Ser5113=) c.15288C>T (p.Ser5096=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
1 | g.19078021G>C | CA416453145 | UBR4 | c.15279C>G (p.Ser5093=) c.2400C>G (p.Ser800=) c.504C>G (p.Ser168=) n.3286C>G c.15432C>G (p.Ser5144=) c.15429C>G (p.Ser5143=) c.15417C>G (p.Ser5139=) c.15414C>G (p.Ser5138=) c.15408C>G (p.Ser5136=) c.15399C>G (p.Ser5133=) c.15348C>G (p.Ser5116=) c.15345C>G (p.Ser5115=) c.15312C>G (p.Ser5104=) c.15309C>G (p.Ser5103=) c.15276C>G (p.Ser5092=) c.15546C>G (p.Ser5182=) c.15543C>G (p.Ser5181=) c.15531C>G (p.Ser5177=) c.15528C>G (p.Ser5176=) c.15522C>G (p.Ser5174=) c.15513C>G (p.Ser5171=) c.15462C>G (p.Ser5154=) c.15459C>G (p.Ser5153=) c.15426C>G (p.Ser5142=) c.15423C>G (p.Ser5141=) c.15390C>G (p.Ser5130=) c.15525C>G (p.Ser5175=) c.15498C>G (p.Ser5166=) c.15444C>G (p.Ser5148=) c.15411C>G (p.Ser5137=) c.15387C>G (p.Ser5129=) c.15339C>G (p.Ser5113=) c.15288C>G (p.Ser5096=) | |
1 | g.19078021G= | CA1156956077 | UBR4 | c.15279C= (p.Ser5093=) c.2400C= (p.Ser800=) c.504C= (p.Ser168=) n.3286C= c.15432C= (p.Ser5144=) c.15429C= (p.Ser5143=) c.15417C= (p.Ser5139=) c.15414C= (p.Ser5138=) c.15408C= (p.Ser5136=) c.15399C= (p.Ser5133=) c.15348C= (p.Ser5116=) c.15345C= (p.Ser5115=) c.15312C= (p.Ser5104=) c.15309C= (p.Ser5103=) c.15276C= (p.Ser5092=) c.15546C= (p.Ser5182=) c.15543C= (p.Ser5181=) c.15531C= (p.Ser5177=) c.15528C= (p.Ser5176=) c.15522C= (p.Ser5174=) c.15513C= (p.Ser5171=) c.15462C= (p.Ser5154=) c.15459C= (p.Ser5153=) c.15426C= (p.Ser5142=) c.15423C= (p.Ser5141=) c.15390C= (p.Ser5130=) c.15525C= (p.Ser5175=) c.15498C= (p.Ser5166=) c.15444C= (p.Ser5148=) c.15411C= (p.Ser5137=) c.15387C= (p.Ser5129=) c.15339C= (p.Ser5113=) c.15288C= (p.Ser5096=) | |
1 | g.19078021G>T | CA416453146 | UBR4 | c.15279C>A (p.Ser5093=) c.2400C>A (p.Ser800=) c.504C>A (p.Ser168=) n.3286C>A c.15432C>A (p.Ser5144=) c.15429C>A (p.Ser5143=) c.15417C>A (p.Ser5139=) c.15414C>A (p.Ser5138=) c.15408C>A (p.Ser5136=) c.15399C>A (p.Ser5133=) c.15348C>A (p.Ser5116=) c.15345C>A (p.Ser5115=) c.15312C>A (p.Ser5104=) c.15309C>A (p.Ser5103=) c.15276C>A (p.Ser5092=) c.15546C>A (p.Ser5182=) c.15543C>A (p.Ser5181=) c.15531C>A (p.Ser5177=) c.15528C>A (p.Ser5176=) c.15522C>A (p.Ser5174=) c.15513C>A (p.Ser5171=) c.15462C>A (p.Ser5154=) c.15459C>A (p.Ser5153=) c.15426C>A (p.Ser5142=) c.15423C>A (p.Ser5141=) c.15390C>A (p.Ser5130=) c.15525C>A (p.Ser5175=) c.15498C>A (p.Ser5166=) c.15444C>A (p.Ser5148=) c.15411C>A (p.Ser5137=) c.15387C>A (p.Ser5129=) c.15339C>A (p.Ser5113=) c.15288C>A (p.Ser5096=) | |
1 | g.19078022G>A | CA338748192 | UBR4 | c.15278C>T (p.Ser5093Phe) c.2399C>T (p.Ser800Phe) c.503C>T (p.Ser168Phe) n.3285C>T c.15431C>T (p.Ser5144Phe) c.15428C>T (p.Ser5143Phe) c.15416C>T (p.Ser5139Phe) c.15413C>T (p.Ser5138Phe) c.15407C>T (p.Ser5136Phe) c.15398C>T (p.Ser5133Phe) c.15347C>T (p.Ser5116Phe) c.15344C>T (p.Ser5115Phe) c.15311C>T (p.Ser5104Phe) c.15308C>T (p.Ser5103Phe) c.15275C>T (p.Ser5092Phe) c.15545C>T (p.Ser5182Phe) c.15542C>T (p.Ser5181Phe) c.15530C>T (p.Ser5177Phe) c.15527C>T (p.Ser5176Phe) c.15521C>T (p.Ser5174Phe) c.15512C>T (p.Ser5171Phe) c.15461C>T (p.Ser5154Phe) c.15458C>T (p.Ser5153Phe) c.15425C>T (p.Ser5142Phe) c.15422C>T (p.Ser5141Phe) c.15389C>T (p.Ser5130Phe) c.15524C>T (p.Ser5175Phe) c.15497C>T (p.Ser5166Phe) c.15443C>T (p.Ser5148Phe) c.15410C>T (p.Ser5137Phe) c.15386C>T (p.Ser5129Phe) c.15338C>T (p.Ser5113Phe) c.15287C>T (p.Ser5096Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.19078022G>C | CA338748190 | UBR4 | c.15278C>G (p.Ser5093Cys) c.2399C>G (p.Ser800Cys) c.503C>G (p.Ser168Cys) n.3285C>G c.15431C>G (p.Ser5144Cys) c.15428C>G (p.Ser5143Cys) c.15416C>G (p.Ser5139Cys) c.15413C>G (p.Ser5138Cys) c.15407C>G (p.Ser5136Cys) c.15398C>G (p.Ser5133Cys) c.15347C>G (p.Ser5116Cys) c.15344C>G (p.Ser5115Cys) c.15311C>G (p.Ser5104Cys) c.15308C>G (p.Ser5103Cys) c.15275C>G (p.Ser5092Cys) c.15545C>G (p.Ser5182Cys) c.15542C>G (p.Ser5181Cys) c.15530C>G (p.Ser5177Cys) c.15527C>G (p.Ser5176Cys) c.15521C>G (p.Ser5174Cys) c.15512C>G (p.Ser5171Cys) c.15461C>G (p.Ser5154Cys) c.15458C>G (p.Ser5153Cys) c.15425C>G (p.Ser5142Cys) c.15422C>G (p.Ser5141Cys) c.15389C>G (p.Ser5130Cys) c.15524C>G (p.Ser5175Cys) c.15497C>G (p.Ser5166Cys) c.15443C>G (p.Ser5148Cys) c.15410C>G (p.Ser5137Cys) c.15386C>G (p.Ser5129Cys) c.15338C>G (p.Ser5113Cys) c.15287C>G (p.Ser5096Cys) | |
1 | g.19078022G= | CA1156956078 | UBR4 | c.15278C= (p.Ser5093=) c.2399C= (p.Ser800=) c.503C= (p.Ser168=) n.3285C= c.15431C= (p.Ser5144=) c.15428C= (p.Ser5143=) c.15416C= (p.Ser5139=) c.15413C= (p.Ser5138=) c.15407C= (p.Ser5136=) c.15398C= (p.Ser5133=) c.15347C= (p.Ser5116=) c.15344C= (p.Ser5115=) c.15311C= (p.Ser5104=) c.15308C= (p.Ser5103=) c.15275C= (p.Ser5092=) c.15545C= (p.Ser5182=) c.15542C= (p.Ser5181=) c.15530C= (p.Ser5177=) c.15527C= (p.Ser5176=) c.15521C= (p.Ser5174=) c.15512C= (p.Ser5171=) c.15461C= (p.Ser5154=) c.15458C= (p.Ser5153=) c.15425C= (p.Ser5142=) c.15422C= (p.Ser5141=) c.15389C= (p.Ser5130=) c.15524C= (p.Ser5175=) c.15497C= (p.Ser5166=) c.15443C= (p.Ser5148=) c.15410C= (p.Ser5137=) c.15386C= (p.Ser5129=) c.15338C= (p.Ser5113=) c.15287C= (p.Ser5096=) | |
1 | g.19078022G>T | CA338748188 | UBR4 | c.15278C>A (p.Ser5093Tyr) c.2399C>A (p.Ser800Tyr) c.503C>A (p.Ser168Tyr) n.3285C>A c.15431C>A (p.Ser5144Tyr) c.15428C>A (p.Ser5143Tyr) c.15416C>A (p.Ser5139Tyr) c.15413C>A (p.Ser5138Tyr) c.15407C>A (p.Ser5136Tyr) c.15398C>A (p.Ser5133Tyr) c.15347C>A (p.Ser5116Tyr) c.15344C>A (p.Ser5115Tyr) c.15311C>A (p.Ser5104Tyr) c.15308C>A (p.Ser5103Tyr) c.15275C>A (p.Ser5092Tyr) c.15545C>A (p.Ser5182Tyr) c.15542C>A (p.Ser5181Tyr) c.15530C>A (p.Ser5177Tyr) c.15527C>A (p.Ser5176Tyr) c.15521C>A (p.Ser5174Tyr) c.15512C>A (p.Ser5171Tyr) c.15461C>A (p.Ser5154Tyr) c.15458C>A (p.Ser5153Tyr) c.15425C>A (p.Ser5142Tyr) c.15422C>A (p.Ser5141Tyr) c.15389C>A (p.Ser5130Tyr) c.15524C>A (p.Ser5175Tyr) c.15497C>A (p.Ser5166Tyr) c.15443C>A (p.Ser5148Tyr) c.15410C>A (p.Ser5137Tyr) c.15386C>A (p.Ser5129Tyr) c.15338C>A (p.Ser5113Tyr) c.15287C>A (p.Ser5096Tyr) | |
1 | g.19078023A>C | CA338748195 | UBR4 | c.15277T>G (p.Ser5093Ala) c.2398T>G (p.Ser800Ala) c.502T>G (p.Ser168Ala) n.3284T>G c.15430T>G (p.Ser5144Ala) c.15427T>G (p.Ser5143Ala) c.15415T>G (p.Ser5139Ala) c.15412T>G (p.Ser5138Ala) c.15406T>G (p.Ser5136Ala) c.15397T>G (p.Ser5133Ala) c.15346T>G (p.Ser5116Ala) c.15343T>G (p.Ser5115Ala) c.15310T>G (p.Ser5104Ala) c.15307T>G (p.Ser5103Ala) c.15274T>G (p.Ser5092Ala) c.15544T>G (p.Ser5182Ala) c.15541T>G (p.Ser5181Ala) c.15529T>G (p.Ser5177Ala) c.15526T>G (p.Ser5176Ala) c.15520T>G (p.Ser5174Ala) c.15511T>G (p.Ser5171Ala) c.15460T>G (p.Ser5154Ala) c.15457T>G (p.Ser5153Ala) c.15424T>G (p.Ser5142Ala) c.15421T>G (p.Ser5141Ala) c.15388T>G (p.Ser5130Ala) c.15523T>G (p.Ser5175Ala) c.15496T>G (p.Ser5166Ala) c.15442T>G (p.Ser5148Ala) c.15409T>G (p.Ser5137Ala) c.15385T>G (p.Ser5129Ala) c.15337T>G (p.Ser5113Ala) c.15286T>G (p.Ser5096Ala) | |
1 | g.19078023A>G | CA338748196 | UBR4 | c.15277T>C (p.Ser5093Pro) c.2398T>C (p.Ser800Pro) c.502T>C (p.Ser168Pro) n.3284T>C c.15430T>C (p.Ser5144Pro) c.15427T>C (p.Ser5143Pro) c.15415T>C (p.Ser5139Pro) c.15412T>C (p.Ser5138Pro) c.15406T>C (p.Ser5136Pro) c.15397T>C (p.Ser5133Pro) c.15346T>C (p.Ser5116Pro) c.15343T>C (p.Ser5115Pro) c.15310T>C (p.Ser5104Pro) c.15307T>C (p.Ser5103Pro) c.15274T>C (p.Ser5092Pro) c.15544T>C (p.Ser5182Pro) c.15541T>C (p.Ser5181Pro) c.15529T>C (p.Ser5177Pro) c.15526T>C (p.Ser5176Pro) c.15520T>C (p.Ser5174Pro) c.15511T>C (p.Ser5171Pro) c.15460T>C (p.Ser5154Pro) c.15457T>C (p.Ser5153Pro) c.15424T>C (p.Ser5142Pro) c.15421T>C (p.Ser5141Pro) c.15388T>C (p.Ser5130Pro) c.15523T>C (p.Ser5175Pro) c.15496T>C (p.Ser5166Pro) c.15442T>C (p.Ser5148Pro) c.15409T>C (p.Ser5137Pro) c.15385T>C (p.Ser5129Pro) c.15337T>C (p.Ser5113Pro) c.15286T>C (p.Ser5096Pro) | |
1 | g.19078023A>T | CA338748198 | UBR4 | c.15277T>A (p.Ser5093Thr) c.2398T>A (p.Ser800Thr) c.502T>A (p.Ser168Thr) n.3284T>A c.15430T>A (p.Ser5144Thr) c.15427T>A (p.Ser5143Thr) c.15415T>A (p.Ser5139Thr) c.15412T>A (p.Ser5138Thr) c.15406T>A (p.Ser5136Thr) c.15397T>A (p.Ser5133Thr) c.15346T>A (p.Ser5116Thr) c.15343T>A (p.Ser5115Thr) c.15310T>A (p.Ser5104Thr) c.15307T>A (p.Ser5103Thr) c.15274T>A (p.Ser5092Thr) c.15544T>A (p.Ser5182Thr) c.15541T>A (p.Ser5181Thr) c.15529T>A (p.Ser5177Thr) c.15526T>A (p.Ser5176Thr) c.15520T>A (p.Ser5174Thr) c.15511T>A (p.Ser5171Thr) c.15460T>A (p.Ser5154Thr) c.15457T>A (p.Ser5153Thr) c.15424T>A (p.Ser5142Thr) c.15421T>A (p.Ser5141Thr) c.15388T>A (p.Ser5130Thr) c.15523T>A (p.Ser5175Thr) c.15496T>A (p.Ser5166Thr) c.15442T>A (p.Ser5148Thr) c.15409T>A (p.Ser5137Thr) c.15385T>A (p.Ser5129Thr) c.15337T>A (p.Ser5113Thr) c.15286T>A (p.Ser5096Thr) | |
1 | g.19078024A>C | CA416453148 | UBR4 | c.15276T>G (p.Ser5092=) c.2397T>G (p.Ser799=) c.501T>G (p.Ser167=) n.3283T>G c.15429T>G (p.Ser5143=) c.15426T>G (p.Ser5142=) c.15414T>G (p.Ser5138=) c.15411T>G (p.Ser5137=) c.15405T>G (p.Ser5135=) c.15396T>G (p.Ser5132=) c.15345T>G (p.Ser5115=) c.15342T>G (p.Ser5114=) c.15309T>G (p.Ser5103=) c.15306T>G (p.Ser5102=) c.15273T>G (p.Ser5091=) c.15543T>G (p.Ser5181=) c.15540T>G (p.Ser5180=) c.15528T>G (p.Ser5176=) c.15525T>G (p.Ser5175=) c.15519T>G (p.Ser5173=) c.15510T>G (p.Ser5170=) c.15459T>G (p.Ser5153=) c.15456T>G (p.Ser5152=) c.15423T>G (p.Ser5141=) c.15420T>G (p.Ser5140=) c.15387T>G (p.Ser5129=) c.15522T>G (p.Ser5174=) c.15495T>G (p.Ser5165=) c.15441T>G (p.Ser5147=) c.15408T>G (p.Ser5136=) c.15384T>G (p.Ser5128=) c.15336T>G (p.Ser5112=) c.15285T>G (p.Ser5095=) | |
1 | g.19078024A>G | CA416453150 | UBR4 | c.15276T>C (p.Ser5092=) c.2397T>C (p.Ser799=) c.501T>C (p.Ser167=) n.3283T>C c.15429T>C (p.Ser5143=) c.15426T>C (p.Ser5142=) c.15414T>C (p.Ser5138=) c.15411T>C (p.Ser5137=) c.15405T>C (p.Ser5135=) c.15396T>C (p.Ser5132=) c.15345T>C (p.Ser5115=) c.15342T>C (p.Ser5114=) c.15309T>C (p.Ser5103=) c.15306T>C (p.Ser5102=) c.15273T>C (p.Ser5091=) c.15543T>C (p.Ser5181=) c.15540T>C (p.Ser5180=) c.15528T>C (p.Ser5176=) c.15525T>C (p.Ser5175=) c.15519T>C (p.Ser5173=) c.15510T>C (p.Ser5170=) c.15459T>C (p.Ser5153=) c.15456T>C (p.Ser5152=) c.15423T>C (p.Ser5141=) c.15420T>C (p.Ser5140=) c.15387T>C (p.Ser5129=) c.15522T>C (p.Ser5174=) c.15495T>C (p.Ser5165=) c.15441T>C (p.Ser5147=) c.15408T>C (p.Ser5136=) c.15384T>C (p.Ser5128=) c.15336T>C (p.Ser5112=) c.15285T>C (p.Ser5095=) | |
1 | g.19078024A>T | CA416453149 | UBR4 | c.15276T>A (p.Ser5092=) c.2397T>A (p.Ser799=) c.501T>A (p.Ser167=) n.3283T>A c.15429T>A (p.Ser5143=) c.15426T>A (p.Ser5142=) c.15414T>A (p.Ser5138=) c.15411T>A (p.Ser5137=) c.15405T>A (p.Ser5135=) c.15396T>A (p.Ser5132=) c.15345T>A (p.Ser5115=) c.15342T>A (p.Ser5114=) c.15309T>A (p.Ser5103=) c.15306T>A (p.Ser5102=) c.15273T>A (p.Ser5091=) c.15543T>A (p.Ser5181=) c.15540T>A (p.Ser5180=) c.15528T>A (p.Ser5176=) c.15525T>A (p.Ser5175=) c.15519T>A (p.Ser5173=) c.15510T>A (p.Ser5170=) c.15459T>A (p.Ser5153=) c.15456T>A (p.Ser5152=) c.15423T>A (p.Ser5141=) c.15420T>A (p.Ser5140=) c.15387T>A (p.Ser5129=) c.15522T>A (p.Ser5174=) c.15495T>A (p.Ser5165=) c.15441T>A (p.Ser5147=) c.15408T>A (p.Ser5136=) c.15384T>A (p.Ser5128=) c.15336T>A (p.Ser5112=) c.15285T>A (p.Ser5095=) | |
1 | g.19078025G>A | CA647920 | UBR4 | c.15275C>T (p.Ser5092Phe) c.2396C>T (p.Ser799Phe) c.500C>T (p.Ser167Phe) n.3282C>T c.15428C>T (p.Ser5143Phe) c.15425C>T (p.Ser5142Phe) c.15413C>T (p.Ser5138Phe) c.15410C>T (p.Ser5137Phe) c.15404C>T (p.Ser5135Phe) c.15395C>T (p.Ser5132Phe) c.15344C>T (p.Ser5115Phe) c.15341C>T (p.Ser5114Phe) c.15308C>T (p.Ser5103Phe) c.15305C>T (p.Ser5102Phe) c.15272C>T (p.Ser5091Phe) c.15542C>T (p.Ser5181Phe) c.15539C>T (p.Ser5180Phe) c.15527C>T (p.Ser5176Phe) c.15524C>T (p.Ser5175Phe) c.15518C>T (p.Ser5173Phe) c.15509C>T (p.Ser5170Phe) c.15458C>T (p.Ser5153Phe) c.15455C>T (p.Ser5152Phe) c.15422C>T (p.Ser5141Phe) c.15419C>T (p.Ser5140Phe) c.15386C>T (p.Ser5129Phe) c.15521C>T (p.Ser5174Phe) c.15494C>T (p.Ser5165Phe) c.15440C>T (p.Ser5147Phe) c.15407C>T (p.Ser5136Phe) c.15383C>T (p.Ser5128Phe) c.15335C>T (p.Ser5112Phe) c.15284C>T (p.Ser5095Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
1 | g.19078025G>C | CA338748201 | UBR4 | c.15275C>G (p.Ser5092Cys) c.2396C>G (p.Ser799Cys) c.500C>G (p.Ser167Cys) n.3282C>G c.15428C>G (p.Ser5143Cys) c.15425C>G (p.Ser5142Cys) c.15413C>G (p.Ser5138Cys) c.15410C>G (p.Ser5137Cys) c.15404C>G (p.Ser5135Cys) c.15395C>G (p.Ser5132Cys) c.15344C>G (p.Ser5115Cys) c.15341C>G (p.Ser5114Cys) c.15308C>G (p.Ser5103Cys) c.15305C>G (p.Ser5102Cys) c.15272C>G (p.Ser5091Cys) c.15542C>G (p.Ser5181Cys) c.15539C>G (p.Ser5180Cys) c.15527C>G (p.Ser5176Cys) c.15524C>G (p.Ser5175Cys) c.15518C>G (p.Ser5173Cys) c.15509C>G (p.Ser5170Cys) c.15458C>G (p.Ser5153Cys) c.15455C>G (p.Ser5152Cys) c.15422C>G (p.Ser5141Cys) c.15419C>G (p.Ser5140Cys) c.15386C>G (p.Ser5129Cys) c.15521C>G (p.Ser5174Cys) c.15494C>G (p.Ser5165Cys) c.15440C>G (p.Ser5147Cys) c.15407C>G (p.Ser5136Cys) c.15383C>G (p.Ser5128Cys) c.15335C>G (p.Ser5112Cys) c.15284C>G (p.Ser5095Cys) | gnomAD v4 |
1 | g.19078025G= | CA1156956079 | UBR4 | c.15275C= (p.Ser5092=) c.2396C= (p.Ser799=) c.500C= (p.Ser167=) n.3282C= c.15428C= (p.Ser5143=) c.15425C= (p.Ser5142=) c.15413C= (p.Ser5138=) c.15410C= (p.Ser5137=) c.15404C= (p.Ser5135=) c.15395C= (p.Ser5132=) c.15344C= (p.Ser5115=) c.15341C= (p.Ser5114=) c.15308C= (p.Ser5103=) c.15305C= (p.Ser5102=) c.15272C= (p.Ser5091=) c.15542C= (p.Ser5181=) c.15539C= (p.Ser5180=) c.15527C= (p.Ser5176=) c.15524C= (p.Ser5175=) c.15518C= (p.Ser5173=) c.15509C= (p.Ser5170=) c.15458C= (p.Ser5153=) c.15455C= (p.Ser5152=) c.15422C= (p.Ser5141=) c.15419C= (p.Ser5140=) c.15386C= (p.Ser5129=) c.15521C= (p.Ser5174=) c.15494C= (p.Ser5165=) c.15440C= (p.Ser5147=) c.15407C= (p.Ser5136=) c.15383C= (p.Ser5128=) c.15335C= (p.Ser5112=) c.15284C= (p.Ser5095=) | |
1 | g.19078025G>T | CA338748203 | UBR4 | c.15275C>A (p.Ser5092Tyr) c.2396C>A (p.Ser799Tyr) c.500C>A (p.Ser167Tyr) n.3282C>A c.15428C>A (p.Ser5143Tyr) c.15425C>A (p.Ser5142Tyr) c.15413C>A (p.Ser5138Tyr) c.15410C>A (p.Ser5137Tyr) c.15404C>A (p.Ser5135Tyr) c.15395C>A (p.Ser5132Tyr) c.15344C>A (p.Ser5115Tyr) c.15341C>A (p.Ser5114Tyr) c.15308C>A (p.Ser5103Tyr) c.15305C>A (p.Ser5102Tyr) c.15272C>A (p.Ser5091Tyr) c.15542C>A (p.Ser5181Tyr) c.15539C>A (p.Ser5180Tyr) c.15527C>A (p.Ser5176Tyr) c.15524C>A (p.Ser5175Tyr) c.15518C>A (p.Ser5173Tyr) c.15509C>A (p.Ser5170Tyr) c.15458C>A (p.Ser5153Tyr) c.15455C>A (p.Ser5152Tyr) c.15422C>A (p.Ser5141Tyr) c.15419C>A (p.Ser5140Tyr) c.15386C>A (p.Ser5129Tyr) c.15521C>A (p.Ser5174Tyr) c.15494C>A (p.Ser5165Tyr) c.15440C>A (p.Ser5147Tyr) c.15407C>A (p.Ser5136Tyr) c.15383C>A (p.Ser5128Tyr) c.15335C>A (p.Ser5112Tyr) c.15284C>A (p.Ser5095Tyr) | |
1 | g.19078026A>C | CA338748205 | UBR4 | c.15274T>G (p.Ser5092Ala) c.2395T>G (p.Ser799Ala) c.499T>G (p.Ser167Ala) n.3281T>G c.15427T>G (p.Ser5143Ala) c.15424T>G (p.Ser5142Ala) c.15412T>G (p.Ser5138Ala) c.15409T>G (p.Ser5137Ala) c.15403T>G (p.Ser5135Ala) c.15394T>G (p.Ser5132Ala) c.15343T>G (p.Ser5115Ala) c.15340T>G (p.Ser5114Ala) c.15307T>G (p.Ser5103Ala) c.15304T>G (p.Ser5102Ala) c.15271T>G (p.Ser5091Ala) c.15541T>G (p.Ser5181Ala) c.15538T>G (p.Ser5180Ala) c.15526T>G (p.Ser5176Ala) c.15523T>G (p.Ser5175Ala) c.15517T>G (p.Ser5173Ala) c.15508T>G (p.Ser5170Ala) c.15457T>G (p.Ser5153Ala) c.15454T>G (p.Ser5152Ala) c.15421T>G (p.Ser5141Ala) c.15418T>G (p.Ser5140Ala) c.15385T>G (p.Ser5129Ala) c.15520T>G (p.Ser5174Ala) c.15493T>G (p.Ser5165Ala) c.15439T>G (p.Ser5147Ala) c.15406T>G (p.Ser5136Ala) c.15382T>G (p.Ser5128Ala) c.15334T>G (p.Ser5112Ala) c.15283T>G (p.Ser5095Ala) | |
1 | g.19078026A>G | CA338748209 | UBR4 | c.15274T>C (p.Ser5092Pro) c.2395T>C (p.Ser799Pro) c.499T>C (p.Ser167Pro) n.3281T>C c.15427T>C (p.Ser5143Pro) c.15424T>C (p.Ser5142Pro) c.15412T>C (p.Ser5138Pro) c.15409T>C (p.Ser5137Pro) c.15403T>C (p.Ser5135Pro) c.15394T>C (p.Ser5132Pro) c.15343T>C (p.Ser5115Pro) c.15340T>C (p.Ser5114Pro) c.15307T>C (p.Ser5103Pro) c.15304T>C (p.Ser5102Pro) c.15271T>C (p.Ser5091Pro) c.15541T>C (p.Ser5181Pro) c.15538T>C (p.Ser5180Pro) c.15526T>C (p.Ser5176Pro) c.15523T>C (p.Ser5175Pro) c.15517T>C (p.Ser5173Pro) c.15508T>C (p.Ser5170Pro) c.15457T>C (p.Ser5153Pro) c.15454T>C (p.Ser5152Pro) c.15421T>C (p.Ser5141Pro) c.15418T>C (p.Ser5140Pro) c.15385T>C (p.Ser5129Pro) c.15520T>C (p.Ser5174Pro) c.15493T>C (p.Ser5165Pro) c.15439T>C (p.Ser5147Pro) c.15406T>C (p.Ser5136Pro) c.15382T>C (p.Ser5128Pro) c.15334T>C (p.Ser5112Pro) c.15283T>C (p.Ser5095Pro) | |
1 | g.19078026A>T | CA338748207 | UBR4 | c.15274T>A (p.Ser5092Thr) c.2395T>A (p.Ser799Thr) c.499T>A (p.Ser167Thr) n.3281T>A c.15427T>A (p.Ser5143Thr) c.15424T>A (p.Ser5142Thr) c.15412T>A (p.Ser5138Thr) c.15409T>A (p.Ser5137Thr) c.15403T>A (p.Ser5135Thr) c.15394T>A (p.Ser5132Thr) c.15343T>A (p.Ser5115Thr) c.15340T>A (p.Ser5114Thr) c.15307T>A (p.Ser5103Thr) c.15304T>A (p.Ser5102Thr) c.15271T>A (p.Ser5091Thr) c.15541T>A (p.Ser5181Thr) c.15538T>A (p.Ser5180Thr) c.15526T>A (p.Ser5176Thr) c.15523T>A (p.Ser5175Thr) c.15517T>A (p.Ser5173Thr) c.15508T>A (p.Ser5170Thr) c.15457T>A (p.Ser5153Thr) c.15454T>A (p.Ser5152Thr) c.15421T>A (p.Ser5141Thr) c.15418T>A (p.Ser5140Thr) c.15385T>A (p.Ser5129Thr) c.15520T>A (p.Ser5174Thr) c.15493T>A (p.Ser5165Thr) c.15439T>A (p.Ser5147Thr) c.15406T>A (p.Ser5136Thr) c.15382T>A (p.Ser5128Thr) c.15334T>A (p.Ser5112Thr) c.15283T>A (p.Ser5095Thr) | |
1 | g.19078027A= | CA1156956080 | UBR4 | c.15273T= (p.Arg5091=) c.2394T= (p.Arg798=) c.498T= (p.Arg166=) n.3280T= c.15426T= (p.Arg5142=) c.15423T= (p.Arg5141=) c.15411T= (p.Arg5137=) c.15408T= (p.Arg5136=) c.15402T= (p.Arg5134=) c.15393T= (p.Arg5131=) c.15342T= (p.Arg5114=) c.15339T= (p.Arg5113=) c.15306T= (p.Arg5102=) c.15303T= (p.Arg5101=) c.15270T= (p.Arg5090=) c.15540T= (p.Arg5180=) c.15537T= (p.Arg5179=) c.15525T= (p.Arg5175=) c.15522T= (p.Arg5174=) c.15516T= (p.Arg5172=) c.15507T= (p.Arg5169=) c.15456T= (p.Arg5152=) c.15453T= (p.Arg5151=) c.15420T= (p.Arg5140=) c.15417T= (p.Arg5139=) c.15384T= (p.Arg5128=) c.15519T= (p.Arg5173=) c.15492T= (p.Arg5164=) c.15438T= (p.Arg5146=) c.15405T= (p.Arg5135=) c.15381T= (p.Arg5127=) c.15333T= (p.Arg5111=) c.15282T= (p.Arg5094=) | |
1 | g.19078027A>C | CA416453151 | UBR4 | c.15273T>G (p.Arg5091=) c.2394T>G (p.Arg798=) c.498T>G (p.Arg166=) n.3280T>G c.15426T>G (p.Arg5142=) c.15423T>G (p.Arg5141=) c.15411T>G (p.Arg5137=) c.15408T>G (p.Arg5136=) c.15402T>G (p.Arg5134=) c.15393T>G (p.Arg5131=) c.15342T>G (p.Arg5114=) c.15339T>G (p.Arg5113=) c.15306T>G (p.Arg5102=) c.15303T>G (p.Arg5101=) c.15270T>G (p.Arg5090=) c.15540T>G (p.Arg5180=) c.15537T>G (p.Arg5179=) c.15525T>G (p.Arg5175=) c.15522T>G (p.Arg5174=) c.15516T>G (p.Arg5172=) c.15507T>G (p.Arg5169=) c.15456T>G (p.Arg5152=) c.15453T>G (p.Arg5151=) c.15420T>G (p.Arg5140=) c.15417T>G (p.Arg5139=) c.15384T>G (p.Arg5128=) c.15519T>G (p.Arg5173=) c.15492T>G (p.Arg5164=) c.15438T>G (p.Arg5146=) c.15405T>G (p.Arg5135=) c.15381T>G (p.Arg5127=) c.15333T>G (p.Arg5111=) c.15282T>G (p.Arg5094=) | |
1 | g.19078027A>G | CA416453152 | UBR4 | c.15273T>C (p.Arg5091=) c.2394T>C (p.Arg798=) c.498T>C (p.Arg166=) n.3280T>C c.15426T>C (p.Arg5142=) c.15423T>C (p.Arg5141=) c.15411T>C (p.Arg5137=) c.15408T>C (p.Arg5136=) c.15402T>C (p.Arg5134=) c.15393T>C (p.Arg5131=) c.15342T>C (p.Arg5114=) c.15339T>C (p.Arg5113=) c.15306T>C (p.Arg5102=) c.15303T>C (p.Arg5101=) c.15270T>C (p.Arg5090=) c.15540T>C (p.Arg5180=) c.15537T>C (p.Arg5179=) c.15525T>C (p.Arg5175=) c.15522T>C (p.Arg5174=) c.15516T>C (p.Arg5172=) c.15507T>C (p.Arg5169=) c.15456T>C (p.Arg5152=) c.15453T>C (p.Arg5151=) c.15420T>C (p.Arg5140=) c.15417T>C (p.Arg5139=) c.15384T>C (p.Arg5128=) c.15519T>C (p.Arg5173=) c.15492T>C (p.Arg5164=) c.15438T>C (p.Arg5146=) c.15405T>C (p.Arg5135=) c.15381T>C (p.Arg5127=) c.15333T>C (p.Arg5111=) c.15282T>C (p.Arg5094=) | dbSNP |
1 | g.19078027A>T | CA416453153 | UBR4 | c.15273T>A (p.Arg5091=) c.2394T>A (p.Arg798=) c.498T>A (p.Arg166=) n.3280T>A c.15426T>A (p.Arg5142=) c.15423T>A (p.Arg5141=) c.15411T>A (p.Arg5137=) c.15408T>A (p.Arg5136=) c.15402T>A (p.Arg5134=) c.15393T>A (p.Arg5131=) c.15342T>A (p.Arg5114=) c.15339T>A (p.Arg5113=) c.15306T>A (p.Arg5102=) c.15303T>A (p.Arg5101=) c.15270T>A (p.Arg5090=) c.15540T>A (p.Arg5180=) c.15537T>A (p.Arg5179=) c.15525T>A (p.Arg5175=) c.15522T>A (p.Arg5174=) c.15516T>A (p.Arg5172=) c.15507T>A (p.Arg5169=) c.15456T>A (p.Arg5152=) c.15453T>A (p.Arg5151=) c.15420T>A (p.Arg5140=) c.15417T>A (p.Arg5139=) c.15384T>A (p.Arg5128=) c.15519T>A (p.Arg5173=) c.15492T>A (p.Arg5164=) c.15438T>A (p.Arg5146=) c.15405T>A (p.Arg5135=) c.15381T>A (p.Arg5127=) c.15333T>A (p.Arg5111=) c.15282T>A (p.Arg5094=) | |
1 | g.19078028C>A | CA338748211 | UBR4 | c.15272G>T (p.Arg5091Leu) c.2393G>T (p.Arg798Leu) c.497G>T (p.Arg166Leu) n.3279G>T c.15425G>T (p.Arg5142Leu) c.15422G>T (p.Arg5141Leu) c.15410G>T (p.Arg5137Leu) c.15407G>T (p.Arg5136Leu) c.15401G>T (p.Arg5134Leu) c.15392G>T (p.Arg5131Leu) c.15341G>T (p.Arg5114Leu) c.15338G>T (p.Arg5113Leu) c.15305G>T (p.Arg5102Leu) c.15302G>T (p.Arg5101Leu) c.15269G>T (p.Arg5090Leu) c.15539G>T (p.Arg5180Leu) c.15536G>T (p.Arg5179Leu) c.15524G>T (p.Arg5175Leu) c.15521G>T (p.Arg5174Leu) c.15515G>T (p.Arg5172Leu) c.15506G>T (p.Arg5169Leu) c.15455G>T (p.Arg5152Leu) c.15452G>T (p.Arg5151Leu) c.15419G>T (p.Arg5140Leu) c.15416G>T (p.Arg5139Leu) c.15383G>T (p.Arg5128Leu) c.15518G>T (p.Arg5173Leu) c.15491G>T (p.Arg5164Leu) c.15437G>T (p.Arg5146Leu) c.15404G>T (p.Arg5135Leu) c.15380G>T (p.Arg5127Leu) c.15332G>T (p.Arg5111Leu) c.15281G>T (p.Arg5094Leu) | |
1 | g.19078028C= | CA1148224194 | UBR4 | c.15272G= (p.Arg5091=) c.2393G= (p.Arg798=) c.497G= (p.Arg166=) n.3279G= c.15425G= (p.Arg5142=) c.15422G= (p.Arg5141=) c.15410G= (p.Arg5137=) c.15407G= (p.Arg5136=) c.15401G= (p.Arg5134=) c.15392G= (p.Arg5131=) c.15341G= (p.Arg5114=) c.15338G= (p.Arg5113=) c.15305G= (p.Arg5102=) c.15302G= (p.Arg5101=) c.15269G= (p.Arg5090=) c.15539G= (p.Arg5180=) c.15536G= (p.Arg5179=) c.15524G= (p.Arg5175=) c.15521G= (p.Arg5174=) c.15515G= (p.Arg5172=) c.15506G= (p.Arg5169=) c.15455G= (p.Arg5152=) c.15452G= (p.Arg5151=) c.15419G= (p.Arg5140=) c.15416G= (p.Arg5139=) c.15383G= (p.Arg5128=) c.15518G= (p.Arg5173=) c.15491G= (p.Arg5164=) c.15437G= (p.Arg5146=) c.15404G= (p.Arg5135=) c.15380G= (p.Arg5127=) c.15332G= (p.Arg5111=) c.15281G= (p.Arg5094=) | |
1 | g.19078028C>G | CA338748213 | UBR4 | c.15272G>C (p.Arg5091Pro) c.2393G>C (p.Arg798Pro) c.497G>C (p.Arg166Pro) n.3279G>C c.15425G>C (p.Arg5142Pro) c.15422G>C (p.Arg5141Pro) c.15410G>C (p.Arg5137Pro) c.15407G>C (p.Arg5136Pro) c.15401G>C (p.Arg5134Pro) c.15392G>C (p.Arg5131Pro) c.15341G>C (p.Arg5114Pro) c.15338G>C (p.Arg5113Pro) c.15305G>C (p.Arg5102Pro) c.15302G>C (p.Arg5101Pro) c.15269G>C (p.Arg5090Pro) c.15539G>C (p.Arg5180Pro) c.15536G>C (p.Arg5179Pro) c.15524G>C (p.Arg5175Pro) c.15521G>C (p.Arg5174Pro) c.15515G>C (p.Arg5172Pro) c.15506G>C (p.Arg5169Pro) c.15455G>C (p.Arg5152Pro) c.15452G>C (p.Arg5151Pro) c.15419G>C (p.Arg5140Pro) c.15416G>C (p.Arg5139Pro) c.15383G>C (p.Arg5128Pro) c.15518G>C (p.Arg5173Pro) c.15491G>C (p.Arg5164Pro) c.15437G>C (p.Arg5146Pro) c.15404G>C (p.Arg5135Pro) c.15380G>C (p.Arg5127Pro) c.15332G>C (p.Arg5111Pro) c.15281G>C (p.Arg5094Pro) | |
1 | g.19078028C>T | CA233245 | UBR4 | c.15272G>A (p.Arg5091His) c.2393G>A (p.Arg798His) c.497G>A (p.Arg166His) n.3279G>A c.15425G>A (p.Arg5142His) c.15422G>A (p.Arg5141His) c.15410G>A (p.Arg5137His) c.15407G>A (p.Arg5136His) c.15401G>A (p.Arg5134His) c.15392G>A (p.Arg5131His) c.15341G>A (p.Arg5114His) c.15338G>A (p.Arg5113His) c.15305G>A (p.Arg5102His) c.15302G>A (p.Arg5101His) c.15269G>A (p.Arg5090His) c.15539G>A (p.Arg5180His) c.15536G>A (p.Arg5179His) c.15524G>A (p.Arg5175His) c.15521G>A (p.Arg5174His) c.15515G>A (p.Arg5172His) c.15506G>A (p.Arg5169His) c.15455G>A (p.Arg5152His) c.15452G>A (p.Arg5151His) c.15419G>A (p.Arg5140His) c.15416G>A (p.Arg5139His) c.15383G>A (p.Arg5128His) c.15518G>A (p.Arg5173His) c.15491G>A (p.Arg5164His) c.15437G>A (p.Arg5146His) c.15404G>A (p.Arg5135His) c.15380G>A (p.Arg5127His) c.15332G>A (p.Arg5111His) c.15281G>A (p.Arg5094His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.19078029G>A | CA338748215 | UBR4 | c.15271C>T (p.Arg5091Cys) c.2392C>T (p.Arg798Cys) c.496C>T (p.Arg166Cys) n.3278C>T c.15424C>T (p.Arg5142Cys) c.15421C>T (p.Arg5141Cys) c.15409C>T (p.Arg5137Cys) c.15406C>T (p.Arg5136Cys) c.15400C>T (p.Arg5134Cys) c.15391C>T (p.Arg5131Cys) c.15340C>T (p.Arg5114Cys) c.15337C>T (p.Arg5113Cys) c.15304C>T (p.Arg5102Cys) c.15301C>T (p.Arg5101Cys) c.15268C>T (p.Arg5090Cys) c.15538C>T (p.Arg5180Cys) c.15535C>T (p.Arg5179Cys) c.15523C>T (p.Arg5175Cys) c.15520C>T (p.Arg5174Cys) c.15514C>T (p.Arg5172Cys) c.15505C>T (p.Arg5169Cys) c.15454C>T (p.Arg5152Cys) c.15451C>T (p.Arg5151Cys) c.15418C>T (p.Arg5140Cys) c.15415C>T (p.Arg5139Cys) c.15382C>T (p.Arg5128Cys) c.15517C>T (p.Arg5173Cys) c.15490C>T (p.Arg5164Cys) c.15436C>T (p.Arg5146Cys) c.15403C>T (p.Arg5135Cys) c.15379C>T (p.Arg5127Cys) c.15331C>T (p.Arg5111Cys) c.15280C>T (p.Arg5094Cys) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.19078029G>C | CA338748216 | UBR4 | c.15271C>G (p.Arg5091Gly) c.2392C>G (p.Arg798Gly) c.496C>G (p.Arg166Gly) n.3278C>G c.15424C>G (p.Arg5142Gly) c.15421C>G (p.Arg5141Gly) c.15409C>G (p.Arg5137Gly) c.15406C>G (p.Arg5136Gly) c.15400C>G (p.Arg5134Gly) c.15391C>G (p.Arg5131Gly) c.15340C>G (p.Arg5114Gly) c.15337C>G (p.Arg5113Gly) c.15304C>G (p.Arg5102Gly) c.15301C>G (p.Arg5101Gly) c.15268C>G (p.Arg5090Gly) c.15538C>G (p.Arg5180Gly) c.15535C>G (p.Arg5179Gly) c.15523C>G (p.Arg5175Gly) c.15520C>G (p.Arg5174Gly) c.15514C>G (p.Arg5172Gly) c.15505C>G (p.Arg5169Gly) c.15454C>G (p.Arg5152Gly) c.15451C>G (p.Arg5151Gly) c.15418C>G (p.Arg5140Gly) c.15415C>G (p.Arg5139Gly) c.15382C>G (p.Arg5128Gly) c.15517C>G (p.Arg5173Gly) c.15490C>G (p.Arg5164Gly) c.15436C>G (p.Arg5146Gly) c.15403C>G (p.Arg5135Gly) c.15379C>G (p.Arg5127Gly) c.15331C>G (p.Arg5111Gly) c.15280C>G (p.Arg5094Gly) | |
1 | g.19078029G= | CA1156956081 | UBR4 | c.15271C= (p.Arg5091=) c.2392C= (p.Arg798=) c.496C= (p.Arg166=) n.3278C= c.15424C= (p.Arg5142=) c.15421C= (p.Arg5141=) c.15409C= (p.Arg5137=) c.15406C= (p.Arg5136=) c.15400C= (p.Arg5134=) c.15391C= (p.Arg5131=) c.15340C= (p.Arg5114=) c.15337C= (p.Arg5113=) c.15304C= (p.Arg5102=) c.15301C= (p.Arg5101=) c.15268C= (p.Arg5090=) c.15538C= (p.Arg5180=) c.15535C= (p.Arg5179=) c.15523C= (p.Arg5175=) c.15520C= (p.Arg5174=) c.15514C= (p.Arg5172=) c.15505C= (p.Arg5169=) c.15454C= (p.Arg5152=) c.15451C= (p.Arg5151=) c.15418C= (p.Arg5140=) c.15415C= (p.Arg5139=) c.15382C= (p.Arg5128=) c.15517C= (p.Arg5173=) c.15490C= (p.Arg5164=) c.15436C= (p.Arg5146=) c.15403C= (p.Arg5135=) c.15379C= (p.Arg5127=) c.15331C= (p.Arg5111=) c.15280C= (p.Arg5094=) | |
1 | g.19078029G>T | CA338748218 | UBR4 | c.15271C>A (p.Arg5091Ser) c.2392C>A (p.Arg798Ser) c.496C>A (p.Arg166Ser) n.3278C>A c.15424C>A (p.Arg5142Ser) c.15421C>A (p.Arg5141Ser) c.15409C>A (p.Arg5137Ser) c.15406C>A (p.Arg5136Ser) c.15400C>A (p.Arg5134Ser) c.15391C>A (p.Arg5131Ser) c.15340C>A (p.Arg5114Ser) c.15337C>A (p.Arg5113Ser) c.15304C>A (p.Arg5102Ser) c.15301C>A (p.Arg5101Ser) c.15268C>A (p.Arg5090Ser) c.15538C>A (p.Arg5180Ser) c.15535C>A (p.Arg5179Ser) c.15523C>A (p.Arg5175Ser) c.15520C>A (p.Arg5174Ser) c.15514C>A (p.Arg5172Ser) c.15505C>A (p.Arg5169Ser) c.15454C>A (p.Arg5152Ser) c.15451C>A (p.Arg5151Ser) c.15418C>A (p.Arg5140Ser) c.15415C>A (p.Arg5139Ser) c.15382C>A (p.Arg5128Ser) c.15517C>A (p.Arg5173Ser) c.15490C>A (p.Arg5164Ser) c.15436C>A (p.Arg5146Ser) c.15403C>A (p.Arg5135Ser) c.15379C>A (p.Arg5127Ser) c.15331C>A (p.Arg5111Ser) c.15280C>A (p.Arg5094Ser) | |
1 | g.19078030G>A | CA416453154 | UBR4 | c.15270C>T (p.Tyr5090=) c.2391C>T (p.Tyr797=) c.495C>T (p.Tyr165=) n.3277C>T c.15423C>T (p.Tyr5141=) c.15420C>T (p.Tyr5140=) c.15408C>T (p.Tyr5136=) c.15405C>T (p.Tyr5135=) c.15399C>T (p.Tyr5133=) c.15390C>T (p.Tyr5130=) c.15339C>T (p.Tyr5113=) c.15336C>T (p.Tyr5112=) c.15303C>T (p.Tyr5101=) c.15300C>T (p.Tyr5100=) c.15267C>T (p.Tyr5089=) c.15537C>T (p.Tyr5179=) c.15534C>T (p.Tyr5178=) c.15522C>T (p.Tyr5174=) c.15519C>T (p.Tyr5173=) c.15513C>T (p.Tyr5171=) c.15504C>T (p.Tyr5168=) c.15453C>T (p.Tyr5151=) c.15450C>T (p.Tyr5150=) c.15417C>T (p.Tyr5139=) c.15414C>T (p.Tyr5138=) c.15381C>T (p.Tyr5127=) c.15516C>T (p.Tyr5172=) c.15489C>T (p.Tyr5163=) c.15435C>T (p.Tyr5145=) c.15402C>T (p.Tyr5134=) c.15378C>T (p.Tyr5126=) c.15330C>T (p.Tyr5110=) c.15279C>T (p.Tyr5093=) | |
1 | g.19078030G>C | CA338748221 | UBR4 | c.15270C>G (p.Tyr5090Ter) c.2391C>G (p.Tyr797Ter) c.495C>G (p.Tyr165Ter) n.3277C>G c.15423C>G (p.Tyr5141Ter) c.15420C>G (p.Tyr5140Ter) c.15408C>G (p.Tyr5136Ter) c.15405C>G (p.Tyr5135Ter) c.15399C>G (p.Tyr5133Ter) c.15390C>G (p.Tyr5130Ter) c.15339C>G (p.Tyr5113Ter) c.15336C>G (p.Tyr5112Ter) c.15303C>G (p.Tyr5101Ter) c.15300C>G (p.Tyr5100Ter) c.15267C>G (p.Tyr5089Ter) c.15537C>G (p.Tyr5179Ter) c.15534C>G (p.Tyr5178Ter) c.15522C>G (p.Tyr5174Ter) c.15519C>G (p.Tyr5173Ter) c.15513C>G (p.Tyr5171Ter) c.15504C>G (p.Tyr5168Ter) c.15453C>G (p.Tyr5151Ter) c.15450C>G (p.Tyr5150Ter) c.15417C>G (p.Tyr5139Ter) c.15414C>G (p.Tyr5138Ter) c.15381C>G (p.Tyr5127Ter) c.15516C>G (p.Tyr5172Ter) c.15489C>G (p.Tyr5163Ter) c.15435C>G (p.Tyr5145Ter) c.15402C>G (p.Tyr5134Ter) c.15378C>G (p.Tyr5126Ter) c.15330C>G (p.Tyr5110Ter) c.15279C>G (p.Tyr5093Ter) | |
1 | g.19078030G>T | CA338748222 | UBR4 | c.15270C>A (p.Tyr5090Ter) c.2391C>A (p.Tyr797Ter) c.495C>A (p.Tyr165Ter) n.3277C>A c.15423C>A (p.Tyr5141Ter) c.15420C>A (p.Tyr5140Ter) c.15408C>A (p.Tyr5136Ter) c.15405C>A (p.Tyr5135Ter) c.15399C>A (p.Tyr5133Ter) c.15390C>A (p.Tyr5130Ter) c.15339C>A (p.Tyr5113Ter) c.15336C>A (p.Tyr5112Ter) c.15303C>A (p.Tyr5101Ter) c.15300C>A (p.Tyr5100Ter) c.15267C>A (p.Tyr5089Ter) c.15537C>A (p.Tyr5179Ter) c.15534C>A (p.Tyr5178Ter) c.15522C>A (p.Tyr5174Ter) c.15519C>A (p.Tyr5173Ter) c.15513C>A (p.Tyr5171Ter) c.15504C>A (p.Tyr5168Ter) c.15453C>A (p.Tyr5151Ter) c.15450C>A (p.Tyr5150Ter) c.15417C>A (p.Tyr5139Ter) c.15414C>A (p.Tyr5138Ter) c.15381C>A (p.Tyr5127Ter) c.15516C>A (p.Tyr5172Ter) c.15489C>A (p.Tyr5163Ter) c.15435C>A (p.Tyr5145Ter) c.15402C>A (p.Tyr5134Ter) c.15378C>A (p.Tyr5126Ter) c.15330C>A (p.Tyr5110Ter) c.15279C>A (p.Tyr5093Ter) | |
1 | g.19078031T>A | CA338748229 | UBR4 | c.15269A>T (p.Tyr5090Phe) c.2390A>T (p.Tyr797Phe) c.494A>T (p.Tyr165Phe) n.3276A>T c.15422A>T (p.Tyr5141Phe) c.15419A>T (p.Tyr5140Phe) c.15407A>T (p.Tyr5136Phe) c.15404A>T (p.Tyr5135Phe) c.15398A>T (p.Tyr5133Phe) c.15389A>T (p.Tyr5130Phe) c.15338A>T (p.Tyr5113Phe) c.15335A>T (p.Tyr5112Phe) c.15302A>T (p.Tyr5101Phe) c.15299A>T (p.Tyr5100Phe) c.15266A>T (p.Tyr5089Phe) c.15536A>T (p.Tyr5179Phe) c.15533A>T (p.Tyr5178Phe) c.15521A>T (p.Tyr5174Phe) c.15518A>T (p.Tyr5173Phe) c.15512A>T (p.Tyr5171Phe) c.15503A>T (p.Tyr5168Phe) c.15452A>T (p.Tyr5151Phe) c.15449A>T (p.Tyr5150Phe) c.15416A>T (p.Tyr5139Phe) c.15413A>T (p.Tyr5138Phe) c.15380A>T (p.Tyr5127Phe) c.15515A>T (p.Tyr5172Phe) c.15488A>T (p.Tyr5163Phe) c.15434A>T (p.Tyr5145Phe) c.15401A>T (p.Tyr5134Phe) c.15377A>T (p.Tyr5126Phe) c.15329A>T (p.Tyr5110Phe) c.15278A>T (p.Tyr5093Phe) | |
1 | g.19078031T>C | CA338748227 | UBR4 | c.15269A>G (p.Tyr5090Cys) c.2390A>G (p.Tyr797Cys) c.494A>G (p.Tyr165Cys) n.3276A>G c.15422A>G (p.Tyr5141Cys) c.15419A>G (p.Tyr5140Cys) c.15407A>G (p.Tyr5136Cys) c.15404A>G (p.Tyr5135Cys) c.15398A>G (p.Tyr5133Cys) c.15389A>G (p.Tyr5130Cys) c.15338A>G (p.Tyr5113Cys) c.15335A>G (p.Tyr5112Cys) c.15302A>G (p.Tyr5101Cys) c.15299A>G (p.Tyr5100Cys) c.15266A>G (p.Tyr5089Cys) c.15536A>G (p.Tyr5179Cys) c.15533A>G (p.Tyr5178Cys) c.15521A>G (p.Tyr5174Cys) c.15518A>G (p.Tyr5173Cys) c.15512A>G (p.Tyr5171Cys) c.15503A>G (p.Tyr5168Cys) c.15452A>G (p.Tyr5151Cys) c.15449A>G (p.Tyr5150Cys) c.15416A>G (p.Tyr5139Cys) c.15413A>G (p.Tyr5138Cys) c.15380A>G (p.Tyr5127Cys) c.15515A>G (p.Tyr5172Cys) c.15488A>G (p.Tyr5163Cys) c.15434A>G (p.Tyr5145Cys) c.15401A>G (p.Tyr5134Cys) c.15377A>G (p.Tyr5126Cys) c.15329A>G (p.Tyr5110Cys) c.15278A>G (p.Tyr5093Cys) | |
1 | g.19078031T>G | CA338748225 | UBR4 | c.15269A>C (p.Tyr5090Ser) c.2390A>C (p.Tyr797Ser) c.494A>C (p.Tyr165Ser) n.3276A>C c.15422A>C (p.Tyr5141Ser) c.15419A>C (p.Tyr5140Ser) c.15407A>C (p.Tyr5136Ser) c.15404A>C (p.Tyr5135Ser) c.15398A>C (p.Tyr5133Ser) c.15389A>C (p.Tyr5130Ser) c.15338A>C (p.Tyr5113Ser) c.15335A>C (p.Tyr5112Ser) c.15302A>C (p.Tyr5101Ser) c.15299A>C (p.Tyr5100Ser) c.15266A>C (p.Tyr5089Ser) c.15536A>C (p.Tyr5179Ser) c.15533A>C (p.Tyr5178Ser) c.15521A>C (p.Tyr5174Ser) c.15518A>C (p.Tyr5173Ser) c.15512A>C (p.Tyr5171Ser) c.15503A>C (p.Tyr5168Ser) c.15452A>C (p.Tyr5151Ser) c.15449A>C (p.Tyr5150Ser) c.15416A>C (p.Tyr5139Ser) c.15413A>C (p.Tyr5138Ser) c.15380A>C (p.Tyr5127Ser) c.15515A>C (p.Tyr5172Ser) c.15488A>C (p.Tyr5163Ser) c.15434A>C (p.Tyr5145Ser) c.15401A>C (p.Tyr5134Ser) c.15377A>C (p.Tyr5126Ser) c.15329A>C (p.Tyr5110Ser) c.15278A>C (p.Tyr5093Ser) | |
1 | g.19078032A>C | CA338748232 | UBR4 | c.15268T>G (p.Tyr5090Asp) c.2389T>G (p.Tyr797Asp) c.493T>G (p.Tyr165Asp) n.3275T>G c.15421T>G (p.Tyr5141Asp) c.15418T>G (p.Tyr5140Asp) c.15406T>G (p.Tyr5136Asp) c.15403T>G (p.Tyr5135Asp) c.15397T>G (p.Tyr5133Asp) c.15388T>G (p.Tyr5130Asp) c.15337T>G (p.Tyr5113Asp) c.15334T>G (p.Tyr5112Asp) c.15301T>G (p.Tyr5101Asp) c.15298T>G (p.Tyr5100Asp) c.15265T>G (p.Tyr5089Asp) c.15535T>G (p.Tyr5179Asp) c.15532T>G (p.Tyr5178Asp) c.15520T>G (p.Tyr5174Asp) c.15517T>G (p.Tyr5173Asp) c.15511T>G (p.Tyr5171Asp) c.15502T>G (p.Tyr5168Asp) c.15451T>G (p.Tyr5151Asp) c.15448T>G (p.Tyr5150Asp) c.15415T>G (p.Tyr5139Asp) c.15412T>G (p.Tyr5138Asp) c.15379T>G (p.Tyr5127Asp) c.15514T>G (p.Tyr5172Asp) c.15487T>G (p.Tyr5163Asp) c.15433T>G (p.Tyr5145Asp) c.15400T>G (p.Tyr5134Asp) c.15376T>G (p.Tyr5126Asp) c.15328T>G (p.Tyr5110Asp) c.15277T>G (p.Tyr5093Asp) | |
1 | g.19078032A>G | CA338748234 | UBR4 | c.15268T>C (p.Tyr5090His) c.2389T>C (p.Tyr797His) c.493T>C (p.Tyr165His) n.3275T>C c.15421T>C (p.Tyr5141His) c.15418T>C (p.Tyr5140His) c.15406T>C (p.Tyr5136His) c.15403T>C (p.Tyr5135His) c.15397T>C (p.Tyr5133His) c.15388T>C (p.Tyr5130His) c.15337T>C (p.Tyr5113His) c.15334T>C (p.Tyr5112His) c.15301T>C (p.Tyr5101His) c.15298T>C (p.Tyr5100His) c.15265T>C (p.Tyr5089His) c.15535T>C (p.Tyr5179His) c.15532T>C (p.Tyr5178His) c.15520T>C (p.Tyr5174His) c.15517T>C (p.Tyr5173His) c.15511T>C (p.Tyr5171His) c.15502T>C (p.Tyr5168His) c.15451T>C (p.Tyr5151His) c.15448T>C (p.Tyr5150His) c.15415T>C (p.Tyr5139His) c.15412T>C (p.Tyr5138His) c.15379T>C (p.Tyr5127His) c.15514T>C (p.Tyr5172His) c.15487T>C (p.Tyr5163His) c.15433T>C (p.Tyr5145His) c.15400T>C (p.Tyr5134His) c.15376T>C (p.Tyr5126His) c.15328T>C (p.Tyr5110His) c.15277T>C (p.Tyr5093His) | |
1 | g.19078032A>T | CA338748236 | UBR4 | c.15268T>A (p.Tyr5090Asn) c.2389T>A (p.Tyr797Asn) c.493T>A (p.Tyr165Asn) n.3275T>A c.15421T>A (p.Tyr5141Asn) c.15418T>A (p.Tyr5140Asn) c.15406T>A (p.Tyr5136Asn) c.15403T>A (p.Tyr5135Asn) c.15397T>A (p.Tyr5133Asn) c.15388T>A (p.Tyr5130Asn) c.15337T>A (p.Tyr5113Asn) c.15334T>A (p.Tyr5112Asn) c.15301T>A (p.Tyr5101Asn) c.15298T>A (p.Tyr5100Asn) c.15265T>A (p.Tyr5089Asn) c.15535T>A (p.Tyr5179Asn) c.15532T>A (p.Tyr5178Asn) c.15520T>A (p.Tyr5174Asn) c.15517T>A (p.Tyr5173Asn) c.15511T>A (p.Tyr5171Asn) c.15502T>A (p.Tyr5168Asn) c.15451T>A (p.Tyr5151Asn) c.15448T>A (p.Tyr5150Asn) c.15415T>A (p.Tyr5139Asn) c.15412T>A (p.Tyr5138Asn) c.15379T>A (p.Tyr5127Asn) c.15514T>A (p.Tyr5172Asn) c.15487T>A (p.Tyr5163Asn) c.15433T>A (p.Tyr5145Asn) c.15400T>A (p.Tyr5134Asn) c.15376T>A (p.Tyr5126Asn) c.15328T>A (p.Tyr5110Asn) c.15277T>A (p.Tyr5093Asn) | |
1 | g.19078033A>C | CA416453155 | UBR4 | c.15267T>G (p.Ala5089=) c.2388T>G (p.Ala796=) c.492T>G (p.Ala164=) n.3274T>G c.15420T>G (p.Ala5140=) c.15417T>G (p.Ala5139=) c.15405T>G (p.Ala5135=) c.15402T>G (p.Ala5134=) c.15396T>G (p.Ala5132=) c.15387T>G (p.Ala5129=) c.15336T>G (p.Ala5112=) c.15333T>G (p.Ala5111=) c.15300T>G (p.Ala5100=) c.15297T>G (p.Ala5099=) c.15264T>G (p.Ala5088=) c.15534T>G (p.Ala5178=) c.15531T>G (p.Ala5177=) c.15519T>G (p.Ala5173=) c.15516T>G (p.Ala5172=) c.15510T>G (p.Ala5170=) c.15501T>G (p.Ala5167=) c.15450T>G (p.Ala5150=) c.15447T>G (p.Ala5149=) c.15414T>G (p.Ala5138=) c.15411T>G (p.Ala5137=) c.15378T>G (p.Ala5126=) c.15513T>G (p.Ala5171=) c.15486T>G (p.Ala5162=) c.15432T>G (p.Ala5144=) c.15399T>G (p.Ala5133=) c.15375T>G (p.Ala5125=) c.15327T>G (p.Ala5109=) c.15276T>G (p.Ala5092=) | |
1 | g.19078033A>G | CA416453156 | UBR4 | c.15267T>C (p.Ala5089=) c.2388T>C (p.Ala796=) c.492T>C (p.Ala164=) n.3274T>C c.15420T>C (p.Ala5140=) c.15417T>C (p.Ala5139=) c.15405T>C (p.Ala5135=) c.15402T>C (p.Ala5134=) c.15396T>C (p.Ala5132=) c.15387T>C (p.Ala5129=) c.15336T>C (p.Ala5112=) c.15333T>C (p.Ala5111=) c.15300T>C (p.Ala5100=) c.15297T>C (p.Ala5099=) c.15264T>C (p.Ala5088=) c.15534T>C (p.Ala5178=) c.15531T>C (p.Ala5177=) c.15519T>C (p.Ala5173=) c.15516T>C (p.Ala5172=) c.15510T>C (p.Ala5170=) c.15501T>C (p.Ala5167=) c.15450T>C (p.Ala5150=) c.15447T>C (p.Ala5149=) c.15414T>C (p.Ala5138=) c.15411T>C (p.Ala5137=) c.15378T>C (p.Ala5126=) c.15513T>C (p.Ala5171=) c.15486T>C (p.Ala5162=) c.15432T>C (p.Ala5144=) c.15399T>C (p.Ala5133=) c.15375T>C (p.Ala5125=) c.15327T>C (p.Ala5109=) c.15276T>C (p.Ala5092=) | gnomAD v4 |
1 | g.19078033A>T | CA416453157 | UBR4 | c.15267T>A (p.Ala5089=) c.2388T>A (p.Ala796=) c.492T>A (p.Ala164=) n.3274T>A c.15420T>A (p.Ala5140=) c.15417T>A (p.Ala5139=) c.15405T>A (p.Ala5135=) c.15402T>A (p.Ala5134=) c.15396T>A (p.Ala5132=) c.15387T>A (p.Ala5129=) c.15336T>A (p.Ala5112=) c.15333T>A (p.Ala5111=) c.15300T>A (p.Ala5100=) c.15297T>A (p.Ala5099=) c.15264T>A (p.Ala5088=) c.15534T>A (p.Ala5178=) c.15531T>A (p.Ala5177=) c.15519T>A (p.Ala5173=) c.15516T>A (p.Ala5172=) c.15510T>A (p.Ala5170=) c.15501T>A (p.Ala5167=) c.15450T>A (p.Ala5150=) c.15447T>A (p.Ala5149=) c.15414T>A (p.Ala5138=) c.15411T>A (p.Ala5137=) c.15378T>A (p.Ala5126=) c.15513T>A (p.Ala5171=) c.15486T>A (p.Ala5162=) c.15432T>A (p.Ala5144=) c.15399T>A (p.Ala5133=) c.15375T>A (p.Ala5125=) c.15327T>A (p.Ala5109=) c.15276T>A (p.Ala5092=) | |
1 | g.19078034G>A | CA338748237 | UBR4 | c.15266C>T (p.Ala5089Val) c.2387C>T (p.Ala796Val) c.491C>T (p.Ala164Val) n.3273C>T c.15419C>T (p.Ala5140Val) c.15416C>T (p.Ala5139Val) c.15404C>T (p.Ala5135Val) c.15401C>T (p.Ala5134Val) c.15395C>T (p.Ala5132Val) c.15386C>T (p.Ala5129Val) c.15335C>T (p.Ala5112Val) c.15332C>T (p.Ala5111Val) c.15299C>T (p.Ala5100Val) c.15296C>T (p.Ala5099Val) c.15263C>T (p.Ala5088Val) c.15533C>T (p.Ala5178Val) c.15530C>T (p.Ala5177Val) c.15518C>T (p.Ala5173Val) c.15515C>T (p.Ala5172Val) c.15509C>T (p.Ala5170Val) c.15500C>T (p.Ala5167Val) c.15449C>T (p.Ala5150Val) c.15446C>T (p.Ala5149Val) c.15413C>T (p.Ala5138Val) c.15410C>T (p.Ala5137Val) c.15377C>T (p.Ala5126Val) c.15512C>T (p.Ala5171Val) c.15485C>T (p.Ala5162Val) c.15431C>T (p.Ala5144Val) c.15398C>T (p.Ala5133Val) c.15374C>T (p.Ala5125Val) c.15326C>T (p.Ala5109Val) c.15275C>T (p.Ala5092Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.19078034G>C | CA338748238 | UBR4 | c.15266C>G (p.Ala5089Gly) c.2387C>G (p.Ala796Gly) c.491C>G (p.Ala164Gly) n.3273C>G c.15419C>G (p.Ala5140Gly) c.15416C>G (p.Ala5139Gly) c.15404C>G (p.Ala5135Gly) c.15401C>G (p.Ala5134Gly) c.15395C>G (p.Ala5132Gly) c.15386C>G (p.Ala5129Gly) c.15335C>G (p.Ala5112Gly) c.15332C>G (p.Ala5111Gly) c.15299C>G (p.Ala5100Gly) c.15296C>G (p.Ala5099Gly) c.15263C>G (p.Ala5088Gly) c.15533C>G (p.Ala5178Gly) c.15530C>G (p.Ala5177Gly) c.15518C>G (p.Ala5173Gly) c.15515C>G (p.Ala5172Gly) c.15509C>G (p.Ala5170Gly) c.15500C>G (p.Ala5167Gly) c.15449C>G (p.Ala5150Gly) c.15446C>G (p.Ala5149Gly) c.15413C>G (p.Ala5138Gly) c.15410C>G (p.Ala5137Gly) c.15377C>G (p.Ala5126Gly) c.15512C>G (p.Ala5171Gly) c.15485C>G (p.Ala5162Gly) c.15431C>G (p.Ala5144Gly) c.15398C>G (p.Ala5133Gly) c.15374C>G (p.Ala5125Gly) c.15326C>G (p.Ala5109Gly) c.15275C>G (p.Ala5092Gly) | |
1 | g.19078034G= | CA1156956082 | UBR4 | c.15266C= (p.Ala5089=) c.2387C= (p.Ala796=) c.491C= (p.Ala164=) n.3273C= c.15419C= (p.Ala5140=) c.15416C= (p.Ala5139=) c.15404C= (p.Ala5135=) c.15401C= (p.Ala5134=) c.15395C= (p.Ala5132=) c.15386C= (p.Ala5129=) c.15335C= (p.Ala5112=) c.15332C= (p.Ala5111=) c.15299C= (p.Ala5100=) c.15296C= (p.Ala5099=) c.15263C= (p.Ala5088=) c.15533C= (p.Ala5178=) c.15530C= (p.Ala5177=) c.15518C= (p.Ala5173=) c.15515C= (p.Ala5172=) c.15509C= (p.Ala5170=) c.15500C= (p.Ala5167=) c.15449C= (p.Ala5150=) c.15446C= (p.Ala5149=) c.15413C= (p.Ala5138=) c.15410C= (p.Ala5137=) c.15377C= (p.Ala5126=) c.15512C= (p.Ala5171=) c.15485C= (p.Ala5162=) c.15431C= (p.Ala5144=) c.15398C= (p.Ala5133=) c.15374C= (p.Ala5125=) c.15326C= (p.Ala5109=) c.15275C= (p.Ala5092=) | |
1 | g.19078034G>T | CA338748240 | UBR4 | c.15266C>A (p.Ala5089Asp) c.2387C>A (p.Ala796Asp) c.491C>A (p.Ala164Asp) n.3273C>A c.15419C>A (p.Ala5140Asp) c.15416C>A (p.Ala5139Asp) c.15404C>A (p.Ala5135Asp) c.15401C>A (p.Ala5134Asp) c.15395C>A (p.Ala5132Asp) c.15386C>A (p.Ala5129Asp) c.15335C>A (p.Ala5112Asp) c.15332C>A (p.Ala5111Asp) c.15299C>A (p.Ala5100Asp) c.15296C>A (p.Ala5099Asp) c.15263C>A (p.Ala5088Asp) c.15533C>A (p.Ala5178Asp) c.15530C>A (p.Ala5177Asp) c.15518C>A (p.Ala5173Asp) c.15515C>A (p.Ala5172Asp) c.15509C>A (p.Ala5170Asp) c.15500C>A (p.Ala5167Asp) c.15449C>A (p.Ala5150Asp) c.15446C>A (p.Ala5149Asp) c.15413C>A (p.Ala5138Asp) c.15410C>A (p.Ala5137Asp) c.15377C>A (p.Ala5126Asp) c.15512C>A (p.Ala5171Asp) c.15485C>A (p.Ala5162Asp) c.15431C>A (p.Ala5144Asp) c.15398C>A (p.Ala5133Asp) c.15374C>A (p.Ala5125Asp) c.15326C>A (p.Ala5109Asp) c.15275C>A (p.Ala5092Asp) | |
1 | g.19078035C>A | CA338748245 | UBR4 | c.15265G>T (p.Ala5089Ser) c.2386G>T (p.Ala796Ser) c.490G>T (p.Ala164Ser) n.3272G>T c.15418G>T (p.Ala5140Ser) c.15415G>T (p.Ala5139Ser) c.15403G>T (p.Ala5135Ser) c.15400G>T (p.Ala5134Ser) c.15394G>T (p.Ala5132Ser) c.15385G>T (p.Ala5129Ser) c.15334G>T (p.Ala5112Ser) c.15331G>T (p.Ala5111Ser) c.15298G>T (p.Ala5100Ser) c.15295G>T (p.Ala5099Ser) c.15262G>T (p.Ala5088Ser) c.15532G>T (p.Ala5178Ser) c.15529G>T (p.Ala5177Ser) c.15517G>T (p.Ala5173Ser) c.15514G>T (p.Ala5172Ser) c.15508G>T (p.Ala5170Ser) c.15499G>T (p.Ala5167Ser) c.15448G>T (p.Ala5150Ser) c.15445G>T (p.Ala5149Ser) c.15412G>T (p.Ala5138Ser) c.15409G>T (p.Ala5137Ser) c.15376G>T (p.Ala5126Ser) c.15511G>T (p.Ala5171Ser) c.15484G>T (p.Ala5162Ser) c.15430G>T (p.Ala5144Ser) c.15397G>T (p.Ala5133Ser) c.15373G>T (p.Ala5125Ser) c.15325G>T (p.Ala5109Ser) c.15274G>T (p.Ala5092Ser) | |
1 | g.19078035C= | CA1156956083 | UBR4 | c.15265G= (p.Ala5089=) c.2386G= (p.Ala796=) c.490G= (p.Ala164=) n.3272G= c.15418G= (p.Ala5140=) c.15415G= (p.Ala5139=) c.15403G= (p.Ala5135=) c.15400G= (p.Ala5134=) c.15394G= (p.Ala5132=) c.15385G= (p.Ala5129=) c.15334G= (p.Ala5112=) c.15331G= (p.Ala5111=) c.15298G= (p.Ala5100=) c.15295G= (p.Ala5099=) c.15262G= (p.Ala5088=) c.15532G= (p.Ala5178=) c.15529G= (p.Ala5177=) c.15517G= (p.Ala5173=) c.15514G= (p.Ala5172=) c.15508G= (p.Ala5170=) c.15499G= (p.Ala5167=) c.15448G= (p.Ala5150=) c.15445G= (p.Ala5149=) c.15412G= (p.Ala5138=) c.15409G= (p.Ala5137=) c.15376G= (p.Ala5126=) c.15511G= (p.Ala5171=) c.15484G= (p.Ala5162=) c.15430G= (p.Ala5144=) c.15397G= (p.Ala5133=) c.15373G= (p.Ala5125=) c.15325G= (p.Ala5109=) c.15274G= (p.Ala5092=) | |
1 | g.19078035C>G | CA338748241 | UBR4 | c.15265G>C (p.Ala5089Pro) c.2386G>C (p.Ala796Pro) c.490G>C (p.Ala164Pro) n.3272G>C c.15418G>C (p.Ala5140Pro) c.15415G>C (p.Ala5139Pro) c.15403G>C (p.Ala5135Pro) c.15400G>C (p.Ala5134Pro) c.15394G>C (p.Ala5132Pro) c.15385G>C (p.Ala5129Pro) c.15334G>C (p.Ala5112Pro) c.15331G>C (p.Ala5111Pro) c.15298G>C (p.Ala5100Pro) c.15295G>C (p.Ala5099Pro) c.15262G>C (p.Ala5088Pro) c.15532G>C (p.Ala5178Pro) c.15529G>C (p.Ala5177Pro) c.15517G>C (p.Ala5173Pro) c.15514G>C (p.Ala5172Pro) c.15508G>C (p.Ala5170Pro) c.15499G>C (p.Ala5167Pro) c.15448G>C (p.Ala5150Pro) c.15445G>C (p.Ala5149Pro) c.15412G>C (p.Ala5138Pro) c.15409G>C (p.Ala5137Pro) c.15376G>C (p.Ala5126Pro) c.15511G>C (p.Ala5171Pro) c.15484G>C (p.Ala5162Pro) c.15430G>C (p.Ala5144Pro) c.15397G>C (p.Ala5133Pro) c.15373G>C (p.Ala5125Pro) c.15325G>C (p.Ala5109Pro) c.15274G>C (p.Ala5092Pro) | |
1 | g.19078035C>T | CA647921 | UBR4 | c.15265G>A (p.Ala5089Thr) c.2386G>A (p.Ala796Thr) c.490G>A (p.Ala164Thr) n.3272G>A c.15418G>A (p.Ala5140Thr) c.15415G>A (p.Ala5139Thr) c.15403G>A (p.Ala5135Thr) c.15400G>A (p.Ala5134Thr) c.15394G>A (p.Ala5132Thr) c.15385G>A (p.Ala5129Thr) c.15334G>A (p.Ala5112Thr) c.15331G>A (p.Ala5111Thr) c.15298G>A (p.Ala5100Thr) c.15295G>A (p.Ala5099Thr) c.15262G>A (p.Ala5088Thr) c.15532G>A (p.Ala5178Thr) c.15529G>A (p.Ala5177Thr) c.15517G>A (p.Ala5173Thr) c.15514G>A (p.Ala5172Thr) c.15508G>A (p.Ala5170Thr) c.15499G>A (p.Ala5167Thr) c.15448G>A (p.Ala5150Thr) c.15445G>A (p.Ala5149Thr) c.15412G>A (p.Ala5138Thr) c.15409G>A (p.Ala5137Thr) c.15376G>A (p.Ala5126Thr) c.15511G>A (p.Ala5171Thr) c.15484G>A (p.Ala5162Thr) c.15430G>A (p.Ala5144Thr) c.15397G>A (p.Ala5133Thr) c.15373G>A (p.Ala5125Thr) c.15325G>A (p.Ala5109Thr) c.15274G>A (p.Ala5092Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
1 | g.19078036G>A | CA647922 | UBR4 | c.15264C>T (p.Ser5088=) c.2385C>T (p.Ser795=) c.489C>T (p.Ser163=) n.3271C>T c.15417C>T (p.Ser5139=) c.15414C>T (p.Ser5138=) c.15402C>T (p.Ser5134=) c.15399C>T (p.Ser5133=) c.15393C>T (p.Ser5131=) c.15384C>T (p.Ser5128=) c.15333C>T (p.Ser5111=) c.15330C>T (p.Ser5110=) c.15297C>T (p.Ser5099=) c.15294C>T (p.Ser5098=) c.15261C>T (p.Ser5087=) c.15531C>T (p.Ser5177=) c.15528C>T (p.Ser5176=) c.15516C>T (p.Ser5172=) c.15513C>T (p.Ser5171=) c.15507C>T (p.Ser5169=) c.15498C>T (p.Ser5166=) c.15447C>T (p.Ser5149=) c.15444C>T (p.Ser5148=) c.15411C>T (p.Ser5137=) c.15408C>T (p.Ser5136=) c.15375C>T (p.Ser5125=) c.15510C>T (p.Ser5170=) c.15483C>T (p.Ser5161=) c.15429C>T (p.Ser5143=) c.15396C>T (p.Ser5132=) c.15372C>T (p.Ser5124=) c.15324C>T (p.Ser5108=) c.15273C>T (p.Ser5091=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
1 | g.19078036G>C | CA416453159 | UBR4 | c.15264C>G (p.Ser5088=) c.2385C>G (p.Ser795=) c.489C>G (p.Ser163=) n.3271C>G c.15417C>G (p.Ser5139=) c.15414C>G (p.Ser5138=) c.15402C>G (p.Ser5134=) c.15399C>G (p.Ser5133=) c.15393C>G (p.Ser5131=) c.15384C>G (p.Ser5128=) c.15333C>G (p.Ser5111=) c.15330C>G (p.Ser5110=) c.15297C>G (p.Ser5099=) c.15294C>G (p.Ser5098=) c.15261C>G (p.Ser5087=) c.15531C>G (p.Ser5177=) c.15528C>G (p.Ser5176=) c.15516C>G (p.Ser5172=) c.15513C>G (p.Ser5171=) c.15507C>G (p.Ser5169=) c.15498C>G (p.Ser5166=) c.15447C>G (p.Ser5149=) c.15444C>G (p.Ser5148=) c.15411C>G (p.Ser5137=) c.15408C>G (p.Ser5136=) c.15375C>G (p.Ser5125=) c.15510C>G (p.Ser5170=) c.15483C>G (p.Ser5161=) c.15429C>G (p.Ser5143=) c.15396C>G (p.Ser5132=) c.15372C>G (p.Ser5124=) c.15324C>G (p.Ser5108=) c.15273C>G (p.Ser5091=) | |
1 | g.19078036G= | CA1156956084 | UBR4 | c.15264C= (p.Ser5088=) c.2385C= (p.Ser795=) c.489C= (p.Ser163=) n.3271C= c.15417C= (p.Ser5139=) c.15414C= (p.Ser5138=) c.15402C= (p.Ser5134=) c.15399C= (p.Ser5133=) c.15393C= (p.Ser5131=) c.15384C= (p.Ser5128=) c.15333C= (p.Ser5111=) c.15330C= (p.Ser5110=) c.15297C= (p.Ser5099=) c.15294C= (p.Ser5098=) c.15261C= (p.Ser5087=) c.15531C= (p.Ser5177=) c.15528C= (p.Ser5176=) c.15516C= (p.Ser5172=) c.15513C= (p.Ser5171=) c.15507C= (p.Ser5169=) c.15498C= (p.Ser5166=) c.15447C= (p.Ser5149=) c.15444C= (p.Ser5148=) c.15411C= (p.Ser5137=) c.15408C= (p.Ser5136=) c.15375C= (p.Ser5125=) c.15510C= (p.Ser5170=) c.15483C= (p.Ser5161=) c.15429C= (p.Ser5143=) c.15396C= (p.Ser5132=) c.15372C= (p.Ser5124=) c.15324C= (p.Ser5108=) c.15273C= (p.Ser5091=) | |
1 | g.19078036G>T | CA416453158 | UBR4 | c.15264C>A (p.Ser5088=) c.2385C>A (p.Ser795=) c.489C>A (p.Ser163=) n.3271C>A c.15417C>A (p.Ser5139=) c.15414C>A (p.Ser5138=) c.15402C>A (p.Ser5134=) c.15399C>A (p.Ser5133=) c.15393C>A (p.Ser5131=) c.15384C>A (p.Ser5128=) c.15333C>A (p.Ser5111=) c.15330C>A (p.Ser5110=) c.15297C>A (p.Ser5099=) c.15294C>A (p.Ser5098=) c.15261C>A (p.Ser5087=) c.15531C>A (p.Ser5177=) c.15528C>A (p.Ser5176=) c.15516C>A (p.Ser5172=) c.15513C>A (p.Ser5171=) c.15507C>A (p.Ser5169=) c.15498C>A (p.Ser5166=) c.15447C>A (p.Ser5149=) c.15444C>A (p.Ser5148=) c.15411C>A (p.Ser5137=) c.15408C>A (p.Ser5136=) c.15375C>A (p.Ser5125=) c.15510C>A (p.Ser5170=) c.15483C>A (p.Ser5161=) c.15429C>A (p.Ser5143=) c.15396C>A (p.Ser5132=) c.15372C>A (p.Ser5124=) c.15324C>A (p.Ser5108=) c.15273C>A (p.Ser5091=) | |
1 | g.19078037G>A | CA338748248 | UBR4 | c.15263C>T (p.Ser5088Phe) c.2384C>T (p.Ser795Phe) c.488C>T (p.Ser163Phe) n.3270C>T c.15416C>T (p.Ser5139Phe) c.15413C>T (p.Ser5138Phe) c.15401C>T (p.Ser5134Phe) c.15398C>T (p.Ser5133Phe) c.15392C>T (p.Ser5131Phe) c.15383C>T (p.Ser5128Phe) c.15332C>T (p.Ser5111Phe) c.15329C>T (p.Ser5110Phe) c.15296C>T (p.Ser5099Phe) c.15293C>T (p.Ser5098Phe) c.15260C>T (p.Ser5087Phe) c.15530C>T (p.Ser5177Phe) c.15527C>T (p.Ser5176Phe) c.15515C>T (p.Ser5172Phe) c.15512C>T (p.Ser5171Phe) c.15506C>T (p.Ser5169Phe) c.15497C>T (p.Ser5166Phe) c.15446C>T (p.Ser5149Phe) c.15443C>T (p.Ser5148Phe) c.15410C>T (p.Ser5137Phe) c.15407C>T (p.Ser5136Phe) c.15374C>T (p.Ser5125Phe) c.15509C>T (p.Ser5170Phe) c.15482C>T (p.Ser5161Phe) c.15428C>T (p.Ser5143Phe) c.15395C>T (p.Ser5132Phe) c.15371C>T (p.Ser5124Phe) c.15323C>T (p.Ser5108Phe) c.15272C>T (p.Ser5091Phe) | |
1 | g.19078037G>C | CA338748250 | UBR4 | c.15263C>G (p.Ser5088Cys) c.2384C>G (p.Ser795Cys) c.488C>G (p.Ser163Cys) n.3270C>G c.15416C>G (p.Ser5139Cys) c.15413C>G (p.Ser5138Cys) c.15401C>G (p.Ser5134Cys) c.15398C>G (p.Ser5133Cys) c.15392C>G (p.Ser5131Cys) c.15383C>G (p.Ser5128Cys) c.15332C>G (p.Ser5111Cys) c.15329C>G (p.Ser5110Cys) c.15296C>G (p.Ser5099Cys) c.15293C>G (p.Ser5098Cys) c.15260C>G (p.Ser5087Cys) c.15530C>G (p.Ser5177Cys) c.15527C>G (p.Ser5176Cys) c.15515C>G (p.Ser5172Cys) c.15512C>G (p.Ser5171Cys) c.15506C>G (p.Ser5169Cys) c.15497C>G (p.Ser5166Cys) c.15446C>G (p.Ser5149Cys) c.15443C>G (p.Ser5148Cys) c.15410C>G (p.Ser5137Cys) c.15407C>G (p.Ser5136Cys) c.15374C>G (p.Ser5125Cys) c.15509C>G (p.Ser5170Cys) c.15482C>G (p.Ser5161Cys) c.15428C>G (p.Ser5143Cys) c.15395C>G (p.Ser5132Cys) c.15371C>G (p.Ser5124Cys) c.15323C>G (p.Ser5108Cys) c.15272C>G (p.Ser5091Cys) | |
1 | g.19078037G>T | CA338748252 | UBR4 | c.15263C>A (p.Ser5088Tyr) c.2384C>A (p.Ser795Tyr) c.488C>A (p.Ser163Tyr) n.3270C>A c.15416C>A (p.Ser5139Tyr) c.15413C>A (p.Ser5138Tyr) c.15401C>A (p.Ser5134Tyr) c.15398C>A (p.Ser5133Tyr) c.15392C>A (p.Ser5131Tyr) c.15383C>A (p.Ser5128Tyr) c.15332C>A (p.Ser5111Tyr) c.15329C>A (p.Ser5110Tyr) c.15296C>A (p.Ser5099Tyr) c.15293C>A (p.Ser5098Tyr) c.15260C>A (p.Ser5087Tyr) c.15530C>A (p.Ser5177Tyr) c.15527C>A (p.Ser5176Tyr) c.15515C>A (p.Ser5172Tyr) c.15512C>A (p.Ser5171Tyr) c.15506C>A (p.Ser5169Tyr) c.15497C>A (p.Ser5166Tyr) c.15446C>A (p.Ser5149Tyr) c.15443C>A (p.Ser5148Tyr) c.15410C>A (p.Ser5137Tyr) c.15407C>A (p.Ser5136Tyr) c.15374C>A (p.Ser5125Tyr) c.15509C>A (p.Ser5170Tyr) c.15482C>A (p.Ser5161Tyr) c.15428C>A (p.Ser5143Tyr) c.15395C>A (p.Ser5132Tyr) c.15371C>A (p.Ser5124Tyr) c.15323C>A (p.Ser5108Tyr) c.15272C>A (p.Ser5091Tyr) | |
1 | g.19078038A>C | CA338748254 | UBR4 | c.15262T>G (p.Ser5088Ala) c.2383T>G (p.Ser795Ala) c.487T>G (p.Ser163Ala) n.3269T>G c.15415T>G (p.Ser5139Ala) c.15412T>G (p.Ser5138Ala) c.15400T>G (p.Ser5134Ala) c.15397T>G (p.Ser5133Ala) c.15391T>G (p.Ser5131Ala) c.15382T>G (p.Ser5128Ala) c.15331T>G (p.Ser5111Ala) c.15328T>G (p.Ser5110Ala) c.15295T>G (p.Ser5099Ala) c.15292T>G (p.Ser5098Ala) c.15259T>G (p.Ser5087Ala) c.15529T>G (p.Ser5177Ala) c.15526T>G (p.Ser5176Ala) c.15514T>G (p.Ser5172Ala) c.15511T>G (p.Ser5171Ala) c.15505T>G (p.Ser5169Ala) c.15496T>G (p.Ser5166Ala) c.15445T>G (p.Ser5149Ala) c.15442T>G (p.Ser5148Ala) c.15409T>G (p.Ser5137Ala) c.15406T>G (p.Ser5136Ala) c.15373T>G (p.Ser5125Ala) c.15508T>G (p.Ser5170Ala) c.15481T>G (p.Ser5161Ala) c.15427T>G (p.Ser5143Ala) c.15394T>G (p.Ser5132Ala) c.15370T>G (p.Ser5124Ala) c.15322T>G (p.Ser5108Ala) c.15271T>G (p.Ser5091Ala) | |
1 | g.19078038A>G | CA338748255 | UBR4 | c.15262T>C (p.Ser5088Pro) c.2383T>C (p.Ser795Pro) c.487T>C (p.Ser163Pro) n.3269T>C c.15415T>C (p.Ser5139Pro) c.15412T>C (p.Ser5138Pro) c.15400T>C (p.Ser5134Pro) c.15397T>C (p.Ser5133Pro) c.15391T>C (p.Ser5131Pro) c.15382T>C (p.Ser5128Pro) c.15331T>C (p.Ser5111Pro) c.15328T>C (p.Ser5110Pro) c.15295T>C (p.Ser5099Pro) c.15292T>C (p.Ser5098Pro) c.15259T>C (p.Ser5087Pro) c.15529T>C (p.Ser5177Pro) c.15526T>C (p.Ser5176Pro) c.15514T>C (p.Ser5172Pro) c.15511T>C (p.Ser5171Pro) c.15505T>C (p.Ser5169Pro) c.15496T>C (p.Ser5166Pro) c.15445T>C (p.Ser5149Pro) c.15442T>C (p.Ser5148Pro) c.15409T>C (p.Ser5137Pro) c.15406T>C (p.Ser5136Pro) c.15373T>C (p.Ser5125Pro) c.15508T>C (p.Ser5170Pro) c.15481T>C (p.Ser5161Pro) c.15427T>C (p.Ser5143Pro) c.15394T>C (p.Ser5132Pro) c.15370T>C (p.Ser5124Pro) c.15322T>C (p.Ser5108Pro) c.15271T>C (p.Ser5091Pro) | |
1 | g.19078038A>T | CA338748256 | UBR4 | c.15262T>A (p.Ser5088Thr) c.2383T>A (p.Ser795Thr) c.487T>A (p.Ser163Thr) n.3269T>A c.15415T>A (p.Ser5139Thr) c.15412T>A (p.Ser5138Thr) c.15400T>A (p.Ser5134Thr) c.15397T>A (p.Ser5133Thr) c.15391T>A (p.Ser5131Thr) c.15382T>A (p.Ser5128Thr) c.15331T>A (p.Ser5111Thr) c.15328T>A (p.Ser5110Thr) c.15295T>A (p.Ser5099Thr) c.15292T>A (p.Ser5098Thr) c.15259T>A (p.Ser5087Thr) c.15529T>A (p.Ser5177Thr) c.15526T>A (p.Ser5176Thr) c.15514T>A (p.Ser5172Thr) c.15511T>A (p.Ser5171Thr) c.15505T>A (p.Ser5169Thr) c.15496T>A (p.Ser5166Thr) c.15445T>A (p.Ser5149Thr) c.15442T>A (p.Ser5148Thr) c.15409T>A (p.Ser5137Thr) c.15406T>A (p.Ser5136Thr) c.15373T>A (p.Ser5125Thr) c.15508T>A (p.Ser5170Thr) c.15481T>A (p.Ser5161Thr) c.15427T>A (p.Ser5143Thr) c.15394T>A (p.Ser5132Thr) c.15370T>A (p.Ser5124Thr) c.15322T>A (p.Ser5108Thr) c.15271T>A (p.Ser5091Thr) | |
1 | g.19078039A>C | CA338748259 | UBR4 | c.15261T>G (p.Tyr5087Ter) c.2382T>G (p.Tyr794Ter) c.486T>G (p.Tyr162Ter) n.3268T>G c.15414T>G (p.Tyr5138Ter) c.15411T>G (p.Tyr5137Ter) c.15399T>G (p.Tyr5133Ter) c.15396T>G (p.Tyr5132Ter) c.15390T>G (p.Tyr5130Ter) c.15381T>G (p.Tyr5127Ter) c.15330T>G (p.Tyr5110Ter) c.15327T>G (p.Tyr5109Ter) c.15294T>G (p.Tyr5098Ter) c.15291T>G (p.Tyr5097Ter) c.15258T>G (p.Tyr5086Ter) c.15528T>G (p.Tyr5176Ter) c.15525T>G (p.Tyr5175Ter) c.15513T>G (p.Tyr5171Ter) c.15510T>G (p.Tyr5170Ter) c.15504T>G (p.Tyr5168Ter) c.15495T>G (p.Tyr5165Ter) c.15444T>G (p.Tyr5148Ter) c.15441T>G (p.Tyr5147Ter) c.15408T>G (p.Tyr5136Ter) c.15405T>G (p.Tyr5135Ter) c.15372T>G (p.Tyr5124Ter) c.15507T>G (p.Tyr5169Ter) c.15480T>G (p.Tyr5160Ter) c.15426T>G (p.Tyr5142Ter) c.15393T>G (p.Tyr5131Ter) c.15369T>G (p.Tyr5123Ter) c.15321T>G (p.Tyr5107Ter) c.15270T>G (p.Tyr5090Ter) | |
1 | g.19078039A>G | CA416453160 | UBR4 | c.15261T>C (p.Tyr5087=) c.2382T>C (p.Tyr794=) c.486T>C (p.Tyr162=) n.3268T>C c.15414T>C (p.Tyr5138=) c.15411T>C (p.Tyr5137=) c.15399T>C (p.Tyr5133=) c.15396T>C (p.Tyr5132=) c.15390T>C (p.Tyr5130=) c.15381T>C (p.Tyr5127=) c.15330T>C (p.Tyr5110=) c.15327T>C (p.Tyr5109=) c.15294T>C (p.Tyr5098=) c.15291T>C (p.Tyr5097=) c.15258T>C (p.Tyr5086=) c.15528T>C (p.Tyr5176=) c.15525T>C (p.Tyr5175=) c.15513T>C (p.Tyr5171=) c.15510T>C (p.Tyr5170=) c.15504T>C (p.Tyr5168=) c.15495T>C (p.Tyr5165=) c.15444T>C (p.Tyr5148=) c.15441T>C (p.Tyr5147=) c.15408T>C (p.Tyr5136=) c.15405T>C (p.Tyr5135=) c.15372T>C (p.Tyr5124=) c.15507T>C (p.Tyr5169=) c.15480T>C (p.Tyr5160=) c.15426T>C (p.Tyr5142=) c.15393T>C (p.Tyr5131=) c.15369T>C (p.Tyr5123=) c.15321T>C (p.Tyr5107=) c.15270T>C (p.Tyr5090=) | |
1 | g.19078039A>T | CA338748260 | UBR4 | c.15261T>A (p.Tyr5087Ter) c.2382T>A (p.Tyr794Ter) c.486T>A (p.Tyr162Ter) n.3268T>A c.15414T>A (p.Tyr5138Ter) c.15411T>A (p.Tyr5137Ter) c.15399T>A (p.Tyr5133Ter) c.15396T>A (p.Tyr5132Ter) c.15390T>A (p.Tyr5130Ter) c.15381T>A (p.Tyr5127Ter) c.15330T>A (p.Tyr5110Ter) c.15327T>A (p.Tyr5109Ter) c.15294T>A (p.Tyr5098Ter) c.15291T>A (p.Tyr5097Ter) c.15258T>A (p.Tyr5086Ter) c.15528T>A (p.Tyr5176Ter) c.15525T>A (p.Tyr5175Ter) c.15513T>A (p.Tyr5171Ter) c.15510T>A (p.Tyr5170Ter) c.15504T>A (p.Tyr5168Ter) c.15495T>A (p.Tyr5165Ter) c.15444T>A (p.Tyr5148Ter) c.15441T>A (p.Tyr5147Ter) c.15408T>A (p.Tyr5136Ter) c.15405T>A (p.Tyr5135Ter) c.15372T>A (p.Tyr5124Ter) c.15507T>A (p.Tyr5169Ter) c.15480T>A (p.Tyr5160Ter) c.15426T>A (p.Tyr5142Ter) c.15393T>A (p.Tyr5131Ter) c.15369T>A (p.Tyr5123Ter) c.15321T>A (p.Tyr5107Ter) c.15270T>A (p.Tyr5090Ter) | |
1 | g.19078040T>A | CA338748263 | UBR4 | c.15260A>T (p.Tyr5087Phe) c.2381A>T (p.Tyr794Phe) c.485A>T (p.Tyr162Phe) n.3267A>T c.15413A>T (p.Tyr5138Phe) c.15410A>T (p.Tyr5137Phe) c.15398A>T (p.Tyr5133Phe) c.15395A>T (p.Tyr5132Phe) c.15389A>T (p.Tyr5130Phe) c.15380A>T (p.Tyr5127Phe) c.15329A>T (p.Tyr5110Phe) c.15326A>T (p.Tyr5109Phe) c.15293A>T (p.Tyr5098Phe) c.15290A>T (p.Tyr5097Phe) c.15257A>T (p.Tyr5086Phe) c.15527A>T (p.Tyr5176Phe) c.15524A>T (p.Tyr5175Phe) c.15512A>T (p.Tyr5171Phe) c.15509A>T (p.Tyr5170Phe) c.15503A>T (p.Tyr5168Phe) c.15494A>T (p.Tyr5165Phe) c.15443A>T (p.Tyr5148Phe) c.15440A>T (p.Tyr5147Phe) c.15407A>T (p.Tyr5136Phe) c.15404A>T (p.Tyr5135Phe) c.15371A>T (p.Tyr5124Phe) c.15506A>T (p.Tyr5169Phe) c.15479A>T (p.Tyr5160Phe) c.15425A>T (p.Tyr5142Phe) c.15392A>T (p.Tyr5131Phe) c.15368A>T (p.Tyr5123Phe) c.15320A>T (p.Tyr5107Phe) c.15269A>T (p.Tyr5090Phe) | |
1 | g.19078040T>C | CA338748264 | UBR4 | c.15260A>G (p.Tyr5087Cys) c.2381A>G (p.Tyr794Cys) c.485A>G (p.Tyr162Cys) n.3267A>G c.15413A>G (p.Tyr5138Cys) c.15410A>G (p.Tyr5137Cys) c.15398A>G (p.Tyr5133Cys) c.15395A>G (p.Tyr5132Cys) c.15389A>G (p.Tyr5130Cys) c.15380A>G (p.Tyr5127Cys) c.15329A>G (p.Tyr5110Cys) c.15326A>G (p.Tyr5109Cys) c.15293A>G (p.Tyr5098Cys) c.15290A>G (p.Tyr5097Cys) c.15257A>G (p.Tyr5086Cys) c.15527A>G (p.Tyr5176Cys) c.15524A>G (p.Tyr5175Cys) c.15512A>G (p.Tyr5171Cys) c.15509A>G (p.Tyr5170Cys) c.15503A>G (p.Tyr5168Cys) c.15494A>G (p.Tyr5165Cys) c.15443A>G (p.Tyr5148Cys) c.15440A>G (p.Tyr5147Cys) c.15407A>G (p.Tyr5136Cys) c.15404A>G (p.Tyr5135Cys) c.15371A>G (p.Tyr5124Cys) c.15506A>G (p.Tyr5169Cys) c.15479A>G (p.Tyr5160Cys) c.15425A>G (p.Tyr5142Cys) c.15392A>G (p.Tyr5131Cys) c.15368A>G (p.Tyr5123Cys) c.15320A>G (p.Tyr5107Cys) c.15269A>G (p.Tyr5090Cys) | |
1 | g.19078040T>G | CA647923 | UBR4 | c.15260A>C (p.Tyr5087Ser) c.2381A>C (p.Tyr794Ser) c.485A>C (p.Tyr162Ser) n.3267A>C c.15413A>C (p.Tyr5138Ser) c.15410A>C (p.Tyr5137Ser) c.15398A>C (p.Tyr5133Ser) c.15395A>C (p.Tyr5132Ser) c.15389A>C (p.Tyr5130Ser) c.15380A>C (p.Tyr5127Ser) c.15329A>C (p.Tyr5110Ser) c.15326A>C (p.Tyr5109Ser) c.15293A>C (p.Tyr5098Ser) c.15290A>C (p.Tyr5097Ser) c.15257A>C (p.Tyr5086Ser) c.15527A>C (p.Tyr5176Ser) c.15524A>C (p.Tyr5175Ser) c.15512A>C (p.Tyr5171Ser) c.15509A>C (p.Tyr5170Ser) c.15503A>C (p.Tyr5168Ser) c.15494A>C (p.Tyr5165Ser) c.15443A>C (p.Tyr5148Ser) c.15440A>C (p.Tyr5147Ser) c.15407A>C (p.Tyr5136Ser) c.15404A>C (p.Tyr5135Ser) c.15371A>C (p.Tyr5124Ser) c.15506A>C (p.Tyr5169Ser) c.15479A>C (p.Tyr5160Ser) c.15425A>C (p.Tyr5142Ser) c.15392A>C (p.Tyr5131Ser) c.15368A>C (p.Tyr5123Ser) c.15320A>C (p.Tyr5107Ser) c.15269A>C (p.Tyr5090Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.19078040T= | CA1144402372 | UBR4 | c.15260A= (p.Tyr5087=) c.2381A= (p.Tyr794=) c.485A= (p.Tyr162=) n.3267A= c.15413A= (p.Tyr5138=) c.15410A= (p.Tyr5137=) c.15398A= (p.Tyr5133=) c.15395A= (p.Tyr5132=) c.15389A= (p.Tyr5130=) c.15380A= (p.Tyr5127=) c.15329A= (p.Tyr5110=) c.15326A= (p.Tyr5109=) c.15293A= (p.Tyr5098=) c.15290A= (p.Tyr5097=) c.15257A= (p.Tyr5086=) c.15527A= (p.Tyr5176=) c.15524A= (p.Tyr5175=) c.15512A= (p.Tyr5171=) c.15509A= (p.Tyr5170=) c.15503A= (p.Tyr5168=) c.15494A= (p.Tyr5165=) c.15443A= (p.Tyr5148=) c.15440A= (p.Tyr5147=) c.15407A= (p.Tyr5136=) c.15404A= (p.Tyr5135=) c.15371A= (p.Tyr5124=) c.15506A= (p.Tyr5169=) c.15479A= (p.Tyr5160=) c.15425A= (p.Tyr5142=) c.15392A= (p.Tyr5131=) c.15368A= (p.Tyr5123=) c.15320A= (p.Tyr5107=) c.15269A= (p.Tyr5090=) | |
1 | g.19078041A>C | CA338748267 | UBR4 | c.15259T>G (p.Tyr5087Asp) c.2380T>G (p.Tyr794Asp) c.484T>G (p.Tyr162Asp) n.3266T>G c.15412T>G (p.Tyr5138Asp) c.15409T>G (p.Tyr5137Asp) c.15397T>G (p.Tyr5133Asp) c.15394T>G (p.Tyr5132Asp) c.15388T>G (p.Tyr5130Asp) c.15379T>G (p.Tyr5127Asp) c.15328T>G (p.Tyr5110Asp) c.15325T>G (p.Tyr5109Asp) c.15292T>G (p.Tyr5098Asp) c.15289T>G (p.Tyr5097Asp) c.15256T>G (p.Tyr5086Asp) c.15526T>G (p.Tyr5176Asp) c.15523T>G (p.Tyr5175Asp) c.15511T>G (p.Tyr5171Asp) c.15508T>G (p.Tyr5170Asp) c.15502T>G (p.Tyr5168Asp) c.15493T>G (p.Tyr5165Asp) c.15442T>G (p.Tyr5148Asp) c.15439T>G (p.Tyr5147Asp) c.15406T>G (p.Tyr5136Asp) c.15403T>G (p.Tyr5135Asp) c.15370T>G (p.Tyr5124Asp) c.15505T>G (p.Tyr5169Asp) c.15478T>G (p.Tyr5160Asp) c.15424T>G (p.Tyr5142Asp) c.15391T>G (p.Tyr5131Asp) c.15367T>G (p.Tyr5123Asp) c.15319T>G (p.Tyr5107Asp) c.15268T>G (p.Tyr5090Asp) | |
1 | g.19078041A>G | CA338748270 | UBR4 | c.15259T>C (p.Tyr5087His) c.2380T>C (p.Tyr794His) c.484T>C (p.Tyr162His) n.3266T>C c.15412T>C (p.Tyr5138His) c.15409T>C (p.Tyr5137His) c.15397T>C (p.Tyr5133His) c.15394T>C (p.Tyr5132His) c.15388T>C (p.Tyr5130His) c.15379T>C (p.Tyr5127His) c.15328T>C (p.Tyr5110His) c.15325T>C (p.Tyr5109His) c.15292T>C (p.Tyr5098His) c.15289T>C (p.Tyr5097His) c.15256T>C (p.Tyr5086His) c.15526T>C (p.Tyr5176His) c.15523T>C (p.Tyr5175His) c.15511T>C (p.Tyr5171His) c.15508T>C (p.Tyr5170His) c.15502T>C (p.Tyr5168His) c.15493T>C (p.Tyr5165His) c.15442T>C (p.Tyr5148His) c.15439T>C (p.Tyr5147His) c.15406T>C (p.Tyr5136His) c.15403T>C (p.Tyr5135His) c.15370T>C (p.Tyr5124His) c.15505T>C (p.Tyr5169His) c.15478T>C (p.Tyr5160His) c.15424T>C (p.Tyr5142His) c.15391T>C (p.Tyr5131His) c.15367T>C (p.Tyr5123His) c.15319T>C (p.Tyr5107His) c.15268T>C (p.Tyr5090His) | |
1 | g.19078041A>T | CA338748269 | UBR4 | c.15259T>A (p.Tyr5087Asn) c.2380T>A (p.Tyr794Asn) c.484T>A (p.Tyr162Asn) n.3266T>A c.15412T>A (p.Tyr5138Asn) c.15409T>A (p.Tyr5137Asn) c.15397T>A (p.Tyr5133Asn) c.15394T>A (p.Tyr5132Asn) c.15388T>A (p.Tyr5130Asn) c.15379T>A (p.Tyr5127Asn) c.15328T>A (p.Tyr5110Asn) c.15325T>A (p.Tyr5109Asn) c.15292T>A (p.Tyr5098Asn) c.15289T>A (p.Tyr5097Asn) c.15256T>A (p.Tyr5086Asn) c.15526T>A (p.Tyr5176Asn) c.15523T>A (p.Tyr5175Asn) c.15511T>A (p.Tyr5171Asn) c.15508T>A (p.Tyr5170Asn) c.15502T>A (p.Tyr5168Asn) c.15493T>A (p.Tyr5165Asn) c.15442T>A (p.Tyr5148Asn) c.15439T>A (p.Tyr5147Asn) c.15406T>A (p.Tyr5136Asn) c.15403T>A (p.Tyr5135Asn) c.15370T>A (p.Tyr5124Asn) c.15505T>A (p.Tyr5169Asn) c.15478T>A (p.Tyr5160Asn) c.15424T>A (p.Tyr5142Asn) c.15391T>A (p.Tyr5131Asn) c.15367T>A (p.Tyr5123Asn) c.15319T>A (p.Tyr5107Asn) c.15268T>A (p.Tyr5090Asn) | |
1 | g.19078042G>A | CA416453161 | UBR4 | c.15258C>T (p.Asp5086=) c.2379C>T (p.Asp793=) c.483C>T (p.Asp161=) n.3265C>T c.15411C>T (p.Asp5137=) c.15408C>T (p.Asp5136=) c.15396C>T (p.Asp5132=) c.15393C>T (p.Asp5131=) c.15387C>T (p.Asp5129=) c.15378C>T (p.Asp5126=) c.15327C>T (p.Asp5109=) c.15324C>T (p.Asp5108=) c.15291C>T (p.Asp5097=) c.15288C>T (p.Asp5096=) c.15255C>T (p.Asp5085=) c.15525C>T (p.Asp5175=) c.15522C>T (p.Asp5174=) c.15510C>T (p.Asp5170=) c.15507C>T (p.Asp5169=) c.15501C>T (p.Asp5167=) c.15492C>T (p.Asp5164=) c.15441C>T (p.Asp5147=) c.15438C>T (p.Asp5146=) c.15405C>T (p.Asp5135=) c.15402C>T (p.Asp5134=) c.15369C>T (p.Asp5123=) c.15504C>T (p.Asp5168=) c.15477C>T (p.Asp5159=) c.15423C>T (p.Asp5141=) c.15390C>T (p.Asp5130=) c.15366C>T (p.Asp5122=) c.15318C>T (p.Asp5106=) c.15267C>T (p.Asp5089=) | |
1 | g.19078042G>C | CA338748272 | UBR4 | c.15258C>G (p.Asp5086Glu) c.2379C>G (p.Asp793Glu) c.483C>G (p.Asp161Glu) n.3265C>G c.15411C>G (p.Asp5137Glu) c.15408C>G (p.Asp5136Glu) c.15396C>G (p.Asp5132Glu) c.15393C>G (p.Asp5131Glu) c.15387C>G (p.Asp5129Glu) c.15378C>G (p.Asp5126Glu) c.15327C>G (p.Asp5109Glu) c.15324C>G (p.Asp5108Glu) c.15291C>G (p.Asp5097Glu) c.15288C>G (p.Asp5096Glu) c.15255C>G (p.Asp5085Glu) c.15525C>G (p.Asp5175Glu) c.15522C>G (p.Asp5174Glu) c.15510C>G (p.Asp5170Glu) c.15507C>G (p.Asp5169Glu) c.15501C>G (p.Asp5167Glu) c.15492C>G (p.Asp5164Glu) c.15441C>G (p.Asp5147Glu) c.15438C>G (p.Asp5146Glu) c.15405C>G (p.Asp5135Glu) c.15402C>G (p.Asp5134Glu) c.15369C>G (p.Asp5123Glu) c.15504C>G (p.Asp5168Glu) c.15477C>G (p.Asp5159Glu) c.15423C>G (p.Asp5141Glu) c.15390C>G (p.Asp5130Glu) c.15366C>G (p.Asp5122Glu) c.15318C>G (p.Asp5106Glu) c.15267C>G (p.Asp5089Glu) | |
1 | g.19078042G= | CA1156956085 | UBR4 | c.15258C= (p.Asp5086=) c.2379C= (p.Asp793=) c.483C= (p.Asp161=) n.3265C= c.15411C= (p.Asp5137=) c.15408C= (p.Asp5136=) c.15396C= (p.Asp5132=) c.15393C= (p.Asp5131=) c.15387C= (p.Asp5129=) c.15378C= (p.Asp5126=) c.15327C= (p.Asp5109=) c.15324C= (p.Asp5108=) c.15291C= (p.Asp5097=) c.15288C= (p.Asp5096=) c.15255C= (p.Asp5085=) c.15525C= (p.Asp5175=) c.15522C= (p.Asp5174=) c.15510C= (p.Asp5170=) c.15507C= (p.Asp5169=) c.15501C= (p.Asp5167=) c.15492C= (p.Asp5164=) c.15441C= (p.Asp5147=) c.15438C= (p.Asp5146=) c.15405C= (p.Asp5135=) c.15402C= (p.Asp5134=) c.15369C= (p.Asp5123=) c.15504C= (p.Asp5168=) c.15477C= (p.Asp5159=) c.15423C= (p.Asp5141=) c.15390C= (p.Asp5130=) c.15366C= (p.Asp5122=) c.15318C= (p.Asp5106=) c.15267C= (p.Asp5089=) | |
1 | g.19078042G>T | CA338748274 | UBR4 | c.15258C>A (p.Asp5086Glu) c.2379C>A (p.Asp793Glu) c.483C>A (p.Asp161Glu) n.3265C>A c.15411C>A (p.Asp5137Glu) c.15408C>A (p.Asp5136Glu) c.15396C>A (p.Asp5132Glu) c.15393C>A (p.Asp5131Glu) c.15387C>A (p.Asp5129Glu) c.15378C>A (p.Asp5126Glu) c.15327C>A (p.Asp5109Glu) c.15324C>A (p.Asp5108Glu) c.15291C>A (p.Asp5097Glu) c.15288C>A (p.Asp5096Glu) c.15255C>A (p.Asp5085Glu) c.15525C>A (p.Asp5175Glu) c.15522C>A (p.Asp5174Glu) c.15510C>A (p.Asp5170Glu) c.15507C>A (p.Asp5169Glu) c.15501C>A (p.Asp5167Glu) c.15492C>A (p.Asp5164Glu) c.15441C>A (p.Asp5147Glu) c.15438C>A (p.Asp5146Glu) c.15405C>A (p.Asp5135Glu) c.15402C>A (p.Asp5134Glu) c.15369C>A (p.Asp5123Glu) c.15504C>A (p.Asp5168Glu) c.15477C>A (p.Asp5159Glu) c.15423C>A (p.Asp5141Glu) c.15390C>A (p.Asp5130Glu) c.15366C>A (p.Asp5122Glu) c.15318C>A (p.Asp5106Glu) c.15267C>A (p.Asp5089Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.19078043T>A | CA338748276 | UBR4 | c.15257A>T (p.Asp5086Val) c.2378A>T (p.Asp793Val) c.482A>T (p.Asp161Val) n.3264A>T c.15410A>T (p.Asp5137Val) c.15407A>T (p.Asp5136Val) c.15395A>T (p.Asp5132Val) c.15392A>T (p.Asp5131Val) c.15386A>T (p.Asp5129Val) c.15377A>T (p.Asp5126Val) c.15326A>T (p.Asp5109Val) c.15323A>T (p.Asp5108Val) c.15290A>T (p.Asp5097Val) c.15287A>T (p.Asp5096Val) c.15254A>T (p.Asp5085Val) c.15524A>T (p.Asp5175Val) c.15521A>T (p.Asp5174Val) c.15509A>T (p.Asp5170Val) c.15506A>T (p.Asp5169Val) c.15500A>T (p.Asp5167Val) c.15491A>T (p.Asp5164Val) c.15440A>T (p.Asp5147Val) c.15437A>T (p.Asp5146Val) c.15404A>T (p.Asp5135Val) c.15401A>T (p.Asp5134Val) c.15368A>T (p.Asp5123Val) c.15503A>T (p.Asp5168Val) c.15476A>T (p.Asp5159Val) c.15422A>T (p.Asp5141Val) c.15389A>T (p.Asp5130Val) c.15365A>T (p.Asp5122Val) c.15317A>T (p.Asp5106Val) c.15266A>T (p.Asp5089Val) | |
1 | g.19078043T>C | CA338748277 | UBR4 | c.15257A>G (p.Asp5086Gly) c.2378A>G (p.Asp793Gly) c.482A>G (p.Asp161Gly) n.3264A>G c.15410A>G (p.Asp5137Gly) c.15407A>G (p.Asp5136Gly) c.15395A>G (p.Asp5132Gly) c.15392A>G (p.Asp5131Gly) c.15386A>G (p.Asp5129Gly) c.15377A>G (p.Asp5126Gly) c.15326A>G (p.Asp5109Gly) c.15323A>G (p.Asp5108Gly) c.15290A>G (p.Asp5097Gly) c.15287A>G (p.Asp5096Gly) c.15254A>G (p.Asp5085Gly) c.15524A>G (p.Asp5175Gly) c.15521A>G (p.Asp5174Gly) c.15509A>G (p.Asp5170Gly) c.15506A>G (p.Asp5169Gly) c.15500A>G (p.Asp5167Gly) c.15491A>G (p.Asp5164Gly) c.15440A>G (p.Asp5147Gly) c.15437A>G (p.Asp5146Gly) c.15404A>G (p.Asp5135Gly) c.15401A>G (p.Asp5134Gly) c.15368A>G (p.Asp5123Gly) c.15503A>G (p.Asp5168Gly) c.15476A>G (p.Asp5159Gly) c.15422A>G (p.Asp5141Gly) c.15389A>G (p.Asp5130Gly) c.15365A>G (p.Asp5122Gly) c.15317A>G (p.Asp5106Gly) c.15266A>G (p.Asp5089Gly) | |
1 | g.19078043T>G | CA338748280 | UBR4 | c.15257A>C (p.Asp5086Ala) c.2378A>C (p.Asp793Ala) c.482A>C (p.Asp161Ala) n.3264A>C c.15410A>C (p.Asp5137Ala) c.15407A>C (p.Asp5136Ala) c.15395A>C (p.Asp5132Ala) c.15392A>C (p.Asp5131Ala) c.15386A>C (p.Asp5129Ala) c.15377A>C (p.Asp5126Ala) c.15326A>C (p.Asp5109Ala) c.15323A>C (p.Asp5108Ala) c.15290A>C (p.Asp5097Ala) c.15287A>C (p.Asp5096Ala) c.15254A>C (p.Asp5085Ala) c.15524A>C (p.Asp5175Ala) c.15521A>C (p.Asp5174Ala) c.15509A>C (p.Asp5170Ala) c.15506A>C (p.Asp5169Ala) c.15500A>C (p.Asp5167Ala) c.15491A>C (p.Asp5164Ala) c.15440A>C (p.Asp5147Ala) c.15437A>C (p.Asp5146Ala) c.15404A>C (p.Asp5135Ala) c.15401A>C (p.Asp5134Ala) c.15368A>C (p.Asp5123Ala) c.15503A>C (p.Asp5168Ala) c.15476A>C (p.Asp5159Ala) c.15422A>C (p.Asp5141Ala) c.15389A>C (p.Asp5130Ala) c.15365A>C (p.Asp5122Ala) c.15317A>C (p.Asp5106Ala) c.15266A>C (p.Asp5089Ala) | |
1 | g.19078044C>A | CA338748282 | UBR4 | c.15256G>T (p.Asp5086Tyr) c.2377G>T (p.Asp793Tyr) c.481G>T (p.Asp161Tyr) n.3263G>T c.15409G>T (p.Asp5137Tyr) c.15406G>T (p.Asp5136Tyr) c.15394G>T (p.Asp5132Tyr) c.15391G>T (p.Asp5131Tyr) c.15385G>T (p.Asp5129Tyr) c.15376G>T (p.Asp5126Tyr) c.15325G>T (p.Asp5109Tyr) c.15322G>T (p.Asp5108Tyr) c.15289G>T (p.Asp5097Tyr) c.15286G>T (p.Asp5096Tyr) c.15253G>T (p.Asp5085Tyr) c.15523G>T (p.Asp5175Tyr) c.15520G>T (p.Asp5174Tyr) c.15508G>T (p.Asp5170Tyr) c.15505G>T (p.Asp5169Tyr) c.15499G>T (p.Asp5167Tyr) c.15490G>T (p.Asp5164Tyr) c.15439G>T (p.Asp5147Tyr) c.15436G>T (p.Asp5146Tyr) c.15403G>T (p.Asp5135Tyr) c.15400G>T (p.Asp5134Tyr) c.15367G>T (p.Asp5123Tyr) c.15502G>T (p.Asp5168Tyr) c.15475G>T (p.Asp5159Tyr) c.15421G>T (p.Asp5141Tyr) c.15388G>T (p.Asp5130Tyr) c.15364G>T (p.Asp5122Tyr) c.15316G>T (p.Asp5106Tyr) c.15265G>T (p.Asp5089Tyr) | |
1 | g.19078044C= | CA1142037190 | UBR4 | c.15256G= (p.Asp5086=) c.2377G= (p.Asp793=) c.481G= (p.Asp161=) n.3263G= c.15409G= (p.Asp5137=) c.15406G= (p.Asp5136=) c.15394G= (p.Asp5132=) c.15391G= (p.Asp5131=) c.15385G= (p.Asp5129=) c.15376G= (p.Asp5126=) c.15325G= (p.Asp5109=) c.15322G= (p.Asp5108=) c.15289G= (p.Asp5097=) c.15286G= (p.Asp5096=) c.15253G= (p.Asp5085=) c.15523G= (p.Asp5175=) c.15520G= (p.Asp5174=) c.15508G= (p.Asp5170=) c.15505G= (p.Asp5169=) c.15499G= (p.Asp5167=) c.15490G= (p.Asp5164=) c.15439G= (p.Asp5147=) c.15436G= (p.Asp5146=) c.15403G= (p.Asp5135=) c.15400G= (p.Asp5134=) c.15367G= (p.Asp5123=) c.15502G= (p.Asp5168=) c.15475G= (p.Asp5159=) c.15421G= (p.Asp5141=) c.15388G= (p.Asp5130=) c.15364G= (p.Asp5122=) c.15316G= (p.Asp5106=) c.15265G= (p.Asp5089=) | |
1 | g.19078044C>G | CA338748284 | UBR4 | c.15256G>C (p.Asp5086His) c.2377G>C (p.Asp793His) c.481G>C (p.Asp161His) n.3263G>C c.15409G>C (p.Asp5137His) c.15406G>C (p.Asp5136His) c.15394G>C (p.Asp5132His) c.15391G>C (p.Asp5131His) c.15385G>C (p.Asp5129His) c.15376G>C (p.Asp5126His) c.15325G>C (p.Asp5109His) c.15322G>C (p.Asp5108His) c.15289G>C (p.Asp5097His) c.15286G>C (p.Asp5096His) c.15253G>C (p.Asp5085His) c.15523G>C (p.Asp5175His) c.15520G>C (p.Asp5174His) c.15508G>C (p.Asp5170His) c.15505G>C (p.Asp5169His) c.15499G>C (p.Asp5167His) c.15490G>C (p.Asp5164His) c.15439G>C (p.Asp5147His) c.15436G>C (p.Asp5146His) c.15403G>C (p.Asp5135His) c.15400G>C (p.Asp5134His) c.15367G>C (p.Asp5123His) c.15502G>C (p.Asp5168His) c.15475G>C (p.Asp5159His) c.15421G>C (p.Asp5141His) c.15388G>C (p.Asp5130His) c.15364G>C (p.Asp5122His) c.15316G>C (p.Asp5106His) c.15265G>C (p.Asp5089His) | |
1 | g.19078044C>T | CA18791074 | UBR4 | c.15256G>A (p.Asp5086Asn) c.2377G>A (p.Asp793Asn) c.481G>A (p.Asp161Asn) n.3263G>A c.15409G>A (p.Asp5137Asn) c.15406G>A (p.Asp5136Asn) c.15394G>A (p.Asp5132Asn) c.15391G>A (p.Asp5131Asn) c.15385G>A (p.Asp5129Asn) c.15376G>A (p.Asp5126Asn) c.15325G>A (p.Asp5109Asn) c.15322G>A (p.Asp5108Asn) c.15289G>A (p.Asp5097Asn) c.15286G>A (p.Asp5096Asn) c.15253G>A (p.Asp5085Asn) c.15523G>A (p.Asp5175Asn) c.15520G>A (p.Asp5174Asn) c.15508G>A (p.Asp5170Asn) c.15505G>A (p.Asp5169Asn) c.15499G>A (p.Asp5167Asn) c.15490G>A (p.Asp5164Asn) c.15439G>A (p.Asp5147Asn) c.15436G>A (p.Asp5146Asn) c.15403G>A (p.Asp5135Asn) c.15400G>A (p.Asp5134Asn) c.15367G>A (p.Asp5123Asn) c.15502G>A (p.Asp5168Asn) c.15475G>A (p.Asp5159Asn) c.15421G>A (p.Asp5141Asn) c.15388G>A (p.Asp5130Asn) c.15364G>A (p.Asp5122Asn) c.15316G>A (p.Asp5106Asn) c.15265G>A (p.Asp5089Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.19078045C>A | CA338748287 | UBR4 | c.15255G>T (p.Lys5085Asn) c.2376G>T (p.Lys792Asn) c.480G>T (p.Lys160Asn) n.3262G>T c.15408G>T (p.Lys5136Asn) c.15405G>T (p.Lys5135Asn) c.15393G>T (p.Lys5131Asn) c.15390G>T (p.Lys5130Asn) c.15384G>T (p.Lys5128Asn) c.15375G>T (p.Lys5125Asn) c.15324G>T (p.Lys5108Asn) c.15321G>T (p.Lys5107Asn) c.15288G>T (p.Lys5096Asn) c.15285G>T (p.Lys5095Asn) c.15252G>T (p.Lys5084Asn) c.15522G>T (p.Lys5174Asn) c.15519G>T (p.Lys5173Asn) c.15507G>T (p.Lys5169Asn) c.15504G>T (p.Lys5168Asn) c.15498G>T (p.Lys5166Asn) c.15489G>T (p.Lys5163Asn) c.15438G>T (p.Lys5146Asn) c.15435G>T (p.Lys5145Asn) c.15402G>T (p.Lys5134Asn) c.15399G>T (p.Lys5133Asn) c.15366G>T (p.Lys5122Asn) c.15501G>T (p.Lys5167Asn) c.15474G>T (p.Lys5158Asn) c.15420G>T (p.Lys5140Asn) c.15387G>T (p.Lys5129Asn) c.15363G>T (p.Lys5121Asn) c.15315G>T (p.Lys5105Asn) c.15264G>T (p.Lys5088Asn) | |
1 | g.19078045C>G | CA338748289 | UBR4 | c.15255G>C (p.Lys5085Asn) c.2376G>C (p.Lys792Asn) c.480G>C (p.Lys160Asn) n.3262G>C c.15408G>C (p.Lys5136Asn) c.15405G>C (p.Lys5135Asn) c.15393G>C (p.Lys5131Asn) c.15390G>C (p.Lys5130Asn) c.15384G>C (p.Lys5128Asn) c.15375G>C (p.Lys5125Asn) c.15324G>C (p.Lys5108Asn) c.15321G>C (p.Lys5107Asn) c.15288G>C (p.Lys5096Asn) c.15285G>C (p.Lys5095Asn) c.15252G>C (p.Lys5084Asn) c.15522G>C (p.Lys5174Asn) c.15519G>C (p.Lys5173Asn) c.15507G>C (p.Lys5169Asn) c.15504G>C (p.Lys5168Asn) c.15498G>C (p.Lys5166Asn) c.15489G>C (p.Lys5163Asn) c.15438G>C (p.Lys5146Asn) c.15435G>C (p.Lys5145Asn) c.15402G>C (p.Lys5134Asn) c.15399G>C (p.Lys5133Asn) c.15366G>C (p.Lys5122Asn) c.15501G>C (p.Lys5167Asn) c.15474G>C (p.Lys5158Asn) c.15420G>C (p.Lys5140Asn) c.15387G>C (p.Lys5129Asn) c.15363G>C (p.Lys5121Asn) c.15315G>C (p.Lys5105Asn) c.15264G>C (p.Lys5088Asn) | |
1 | g.19078045C>T | CA416453162 | UBR4 | c.15255G>A (p.Lys5085=) c.2376G>A (p.Lys792=) c.480G>A (p.Lys160=) n.3262G>A c.15408G>A (p.Lys5136=) c.15405G>A (p.Lys5135=) c.15393G>A (p.Lys5131=) c.15390G>A (p.Lys5130=) c.15384G>A (p.Lys5128=) c.15375G>A (p.Lys5125=) c.15324G>A (p.Lys5108=) c.15321G>A (p.Lys5107=) c.15288G>A (p.Lys5096=) c.15285G>A (p.Lys5095=) c.15252G>A (p.Lys5084=) c.15522G>A (p.Lys5174=) c.15519G>A (p.Lys5173=) c.15507G>A (p.Lys5169=) c.15504G>A (p.Lys5168=) c.15498G>A (p.Lys5166=) c.15489G>A (p.Lys5163=) c.15438G>A (p.Lys5146=) c.15435G>A (p.Lys5145=) c.15402G>A (p.Lys5134=) c.15399G>A (p.Lys5133=) c.15366G>A (p.Lys5122=) c.15501G>A (p.Lys5167=) c.15474G>A (p.Lys5158=) c.15420G>A (p.Lys5140=) c.15387G>A (p.Lys5129=) c.15363G>A (p.Lys5121=) c.15315G>A (p.Lys5105=) c.15264G>A (p.Lys5088=) | |
1 | g.19078046T>A | CA338748292 | UBR4 | c.15254A>T (p.Lys5085Met) c.2375A>T (p.Lys792Met) c.479A>T (p.Lys160Met) n.3261A>T c.15407A>T (p.Lys5136Met) c.15404A>T (p.Lys5135Met) c.15392A>T (p.Lys5131Met) c.15389A>T (p.Lys5130Met) c.15383A>T (p.Lys5128Met) c.15374A>T (p.Lys5125Met) c.15323A>T (p.Lys5108Met) c.15320A>T (p.Lys5107Met) c.15287A>T (p.Lys5096Met) c.15284A>T (p.Lys5095Met) c.15251A>T (p.Lys5084Met) c.15521A>T (p.Lys5174Met) c.15518A>T (p.Lys5173Met) c.15506A>T (p.Lys5169Met) c.15503A>T (p.Lys5168Met) c.15497A>T (p.Lys5166Met) c.15488A>T (p.Lys5163Met) c.15437A>T (p.Lys5146Met) c.15434A>T (p.Lys5145Met) c.15401A>T (p.Lys5134Met) c.15398A>T (p.Lys5133Met) c.15365A>T (p.Lys5122Met) c.15500A>T (p.Lys5167Met) c.15473A>T (p.Lys5158Met) c.15419A>T (p.Lys5140Met) c.15386A>T (p.Lys5129Met) c.15362A>T (p.Lys5121Met) c.15314A>T (p.Lys5105Met) c.15263A>T (p.Lys5088Met) | |
1 | g.19078046T>C | CA647924 | UBR4 | c.15254A>G (p.Lys5085Arg) c.2375A>G (p.Lys792Arg) c.479A>G (p.Lys160Arg) n.3261A>G c.15407A>G (p.Lys5136Arg) c.15404A>G (p.Lys5135Arg) c.15392A>G (p.Lys5131Arg) c.15389A>G (p.Lys5130Arg) c.15383A>G (p.Lys5128Arg) c.15374A>G (p.Lys5125Arg) c.15323A>G (p.Lys5108Arg) c.15320A>G (p.Lys5107Arg) c.15287A>G (p.Lys5096Arg) c.15284A>G (p.Lys5095Arg) c.15251A>G (p.Lys5084Arg) c.15521A>G (p.Lys5174Arg) c.15518A>G (p.Lys5173Arg) c.15506A>G (p.Lys5169Arg) c.15503A>G (p.Lys5168Arg) c.15497A>G (p.Lys5166Arg) c.15488A>G (p.Lys5163Arg) c.15437A>G (p.Lys5146Arg) c.15434A>G (p.Lys5145Arg) c.15401A>G (p.Lys5134Arg) c.15398A>G (p.Lys5133Arg) c.15365A>G (p.Lys5122Arg) c.15500A>G (p.Lys5167Arg) c.15473A>G (p.Lys5158Arg) c.15419A>G (p.Lys5140Arg) c.15386A>G (p.Lys5129Arg) c.15362A>G (p.Lys5121Arg) c.15314A>G (p.Lys5105Arg) c.15263A>G (p.Lys5088Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.19078046T>G | CA338748293 | UBR4 | c.15254A>C (p.Lys5085Thr) c.2375A>C (p.Lys792Thr) c.479A>C (p.Lys160Thr) n.3261A>C c.15407A>C (p.Lys5136Thr) c.15404A>C (p.Lys5135Thr) c.15392A>C (p.Lys5131Thr) c.15389A>C (p.Lys5130Thr) c.15383A>C (p.Lys5128Thr) c.15374A>C (p.Lys5125Thr) c.15323A>C (p.Lys5108Thr) c.15320A>C (p.Lys5107Thr) c.15287A>C (p.Lys5096Thr) c.15284A>C (p.Lys5095Thr) c.15251A>C (p.Lys5084Thr) c.15521A>C (p.Lys5174Thr) c.15518A>C (p.Lys5173Thr) c.15506A>C (p.Lys5169Thr) c.15503A>C (p.Lys5168Thr) c.15497A>C (p.Lys5166Thr) c.15488A>C (p.Lys5163Thr) c.15437A>C (p.Lys5146Thr) c.15434A>C (p.Lys5145Thr) c.15401A>C (p.Lys5134Thr) c.15398A>C (p.Lys5133Thr) c.15365A>C (p.Lys5122Thr) c.15500A>C (p.Lys5167Thr) c.15473A>C (p.Lys5158Thr) c.15419A>C (p.Lys5140Thr) c.15386A>C (p.Lys5129Thr) c.15362A>C (p.Lys5121Thr) c.15314A>C (p.Lys5105Thr) c.15263A>C (p.Lys5088Thr) | gnomAD v4 |
1 | g.19078046T= | CA1156956086 | UBR4 | c.15254A= (p.Lys5085=) c.2375A= (p.Lys792=) c.479A= (p.Lys160=) n.3261A= c.15407A= (p.Lys5136=) c.15404A= (p.Lys5135=) c.15392A= (p.Lys5131=) c.15389A= (p.Lys5130=) c.15383A= (p.Lys5128=) c.15374A= (p.Lys5125=) c.15323A= (p.Lys5108=) c.15320A= (p.Lys5107=) c.15287A= (p.Lys5096=) c.15284A= (p.Lys5095=) c.15251A= (p.Lys5084=) c.15521A= (p.Lys5174=) c.15518A= (p.Lys5173=) c.15506A= (p.Lys5169=) c.15503A= (p.Lys5168=) c.15497A= (p.Lys5166=) c.15488A= (p.Lys5163=) c.15437A= (p.Lys5146=) c.15434A= (p.Lys5145=) c.15401A= (p.Lys5134=) c.15398A= (p.Lys5133=) c.15365A= (p.Lys5122=) c.15500A= (p.Lys5167=) c.15473A= (p.Lys5158=) c.15419A= (p.Lys5140=) c.15386A= (p.Lys5129=) c.15362A= (p.Lys5121=) c.15314A= (p.Lys5105=) c.15263A= (p.Lys5088=) | |
1 | g.19078047T>A | CA338748296 | UBR4 | c.15253A>T (p.Lys5085Ter) c.2374A>T (p.Lys792Ter) c.478A>T (p.Lys160Ter) n.3260A>T c.15406A>T (p.Lys5136Ter) c.15403A>T (p.Lys5135Ter) c.15391A>T (p.Lys5131Ter) c.15388A>T (p.Lys5130Ter) c.15382A>T (p.Lys5128Ter) c.15373A>T (p.Lys5125Ter) c.15322A>T (p.Lys5108Ter) c.15319A>T (p.Lys5107Ter) c.15286A>T (p.Lys5096Ter) c.15283A>T (p.Lys5095Ter) c.15250A>T (p.Lys5084Ter) c.15520A>T (p.Lys5174Ter) c.15517A>T (p.Lys5173Ter) c.15505A>T (p.Lys5169Ter) c.15502A>T (p.Lys5168Ter) c.15496A>T (p.Lys5166Ter) c.15487A>T (p.Lys5163Ter) c.15436A>T (p.Lys5146Ter) c.15433A>T (p.Lys5145Ter) c.15400A>T (p.Lys5134Ter) c.15397A>T (p.Lys5133Ter) c.15364A>T (p.Lys5122Ter) c.15499A>T (p.Lys5167Ter) c.15472A>T (p.Lys5158Ter) c.15418A>T (p.Lys5140Ter) c.15385A>T (p.Lys5129Ter) c.15361A>T (p.Lys5121Ter) c.15313A>T (p.Lys5105Ter) c.15262A>T (p.Lys5088Ter) | |
1 | g.19078047T>C | CA338748298 | UBR4 | c.15253A>G (p.Lys5085Glu) c.2374A>G (p.Lys792Glu) c.478A>G (p.Lys160Glu) n.3260A>G c.15406A>G (p.Lys5136Glu) c.15403A>G (p.Lys5135Glu) c.15391A>G (p.Lys5131Glu) c.15388A>G (p.Lys5130Glu) c.15382A>G (p.Lys5128Glu) c.15373A>G (p.Lys5125Glu) c.15322A>G (p.Lys5108Glu) c.15319A>G (p.Lys5107Glu) c.15286A>G (p.Lys5096Glu) c.15283A>G (p.Lys5095Glu) c.15250A>G (p.Lys5084Glu) c.15520A>G (p.Lys5174Glu) c.15517A>G (p.Lys5173Glu) c.15505A>G (p.Lys5169Glu) c.15502A>G (p.Lys5168Glu) c.15496A>G (p.Lys5166Glu) c.15487A>G (p.Lys5163Glu) c.15436A>G (p.Lys5146Glu) c.15433A>G (p.Lys5145Glu) c.15400A>G (p.Lys5134Glu) c.15397A>G (p.Lys5133Glu) c.15364A>G (p.Lys5122Glu) c.15499A>G (p.Lys5167Glu) c.15472A>G (p.Lys5158Glu) c.15418A>G (p.Lys5140Glu) c.15385A>G (p.Lys5129Glu) c.15361A>G (p.Lys5121Glu) c.15313A>G (p.Lys5105Glu) c.15262A>G (p.Lys5088Glu) | |
1 | g.19078047T>G | CA338748297 | UBR4 | c.15253A>C (p.Lys5085Gln) c.2374A>C (p.Lys792Gln) c.478A>C (p.Lys160Gln) n.3260A>C c.15406A>C (p.Lys5136Gln) c.15403A>C (p.Lys5135Gln) c.15391A>C (p.Lys5131Gln) c.15388A>C (p.Lys5130Gln) c.15382A>C (p.Lys5128Gln) c.15373A>C (p.Lys5125Gln) c.15322A>C (p.Lys5108Gln) c.15319A>C (p.Lys5107Gln) c.15286A>C (p.Lys5096Gln) c.15283A>C (p.Lys5095Gln) c.15250A>C (p.Lys5084Gln) c.15520A>C (p.Lys5174Gln) c.15517A>C (p.Lys5173Gln) c.15505A>C (p.Lys5169Gln) c.15502A>C (p.Lys5168Gln) c.15496A>C (p.Lys5166Gln) c.15487A>C (p.Lys5163Gln) c.15436A>C (p.Lys5146Gln) c.15433A>C (p.Lys5145Gln) c.15400A>C (p.Lys5134Gln) c.15397A>C (p.Lys5133Gln) c.15364A>C (p.Lys5122Gln) c.15499A>C (p.Lys5167Gln) c.15472A>C (p.Lys5158Gln) c.15418A>C (p.Lys5140Gln) c.15385A>C (p.Lys5129Gln) c.15361A>C (p.Lys5121Gln) c.15313A>C (p.Lys5105Gln) c.15262A>C (p.Lys5088Gln) | |
1 | g.19078048C>A | CA416453163 | UBR4 | c.15252G>T (p.Val5084=) c.2373G>T (p.Val791=) c.477G>T (p.Val159=) n.3259G>T c.15405G>T (p.Val5135=) c.15402G>T (p.Val5134=) c.15390G>T (p.Val5130=) c.15387G>T (p.Val5129=) c.15381G>T (p.Val5127=) c.15372G>T (p.Val5124=) c.15321G>T (p.Val5107=) c.15318G>T (p.Val5106=) c.15285G>T (p.Val5095=) c.15282G>T (p.Val5094=) c.15249G>T (p.Val5083=) c.15519G>T (p.Val5173=) c.15516G>T (p.Val5172=) c.15504G>T (p.Val5168=) c.15501G>T (p.Val5167=) c.15495G>T (p.Val5165=) c.15486G>T (p.Val5162=) c.15435G>T (p.Val5145=) c.15432G>T (p.Val5144=) c.15399G>T (p.Val5133=) c.15396G>T (p.Val5132=) c.15363G>T (p.Val5121=) c.15498G>T (p.Val5166=) c.15471G>T (p.Val5157=) c.15417G>T (p.Val5139=) c.15384G>T (p.Val5128=) c.15360G>T (p.Val5120=) c.15312G>T (p.Val5104=) c.15261G>T (p.Val5087=) | |
1 | g.19078048C>G | CA416453164 | UBR4 | c.15252G>C (p.Val5084=) c.2373G>C (p.Val791=) c.477G>C (p.Val159=) n.3259G>C c.15405G>C (p.Val5135=) c.15402G>C (p.Val5134=) c.15390G>C (p.Val5130=) c.15387G>C (p.Val5129=) c.15381G>C (p.Val5127=) c.15372G>C (p.Val5124=) c.15321G>C (p.Val5107=) c.15318G>C (p.Val5106=) c.15285G>C (p.Val5095=) c.15282G>C (p.Val5094=) c.15249G>C (p.Val5083=) c.15519G>C (p.Val5173=) c.15516G>C (p.Val5172=) c.15504G>C (p.Val5168=) c.15501G>C (p.Val5167=) c.15495G>C (p.Val5165=) c.15486G>C (p.Val5162=) c.15435G>C (p.Val5145=) c.15432G>C (p.Val5144=) c.15399G>C (p.Val5133=) c.15396G>C (p.Val5132=) c.15363G>C (p.Val5121=) c.15498G>C (p.Val5166=) c.15471G>C (p.Val5157=) c.15417G>C (p.Val5139=) c.15384G>C (p.Val5128=) c.15360G>C (p.Val5120=) c.15312G>C (p.Val5104=) c.15261G>C (p.Val5087=) | |
1 | g.19078048C>T | CA416453165 | UBR4 | c.15252G>A (p.Val5084=) c.2373G>A (p.Val791=) c.477G>A (p.Val159=) n.3259G>A c.15405G>A (p.Val5135=) c.15402G>A (p.Val5134=) c.15390G>A (p.Val5130=) c.15387G>A (p.Val5129=) c.15381G>A (p.Val5127=) c.15372G>A (p.Val5124=) c.15321G>A (p.Val5107=) c.15318G>A (p.Val5106=) c.15285G>A (p.Val5095=) c.15282G>A (p.Val5094=) c.15249G>A (p.Val5083=) c.15519G>A (p.Val5173=) c.15516G>A (p.Val5172=) c.15504G>A (p.Val5168=) c.15501G>A (p.Val5167=) c.15495G>A (p.Val5165=) c.15486G>A (p.Val5162=) c.15435G>A (p.Val5145=) c.15432G>A (p.Val5144=) c.15399G>A (p.Val5133=) c.15396G>A (p.Val5132=) c.15363G>A (p.Val5121=) c.15498G>A (p.Val5166=) c.15471G>A (p.Val5157=) c.15417G>A (p.Val5139=) c.15384G>A (p.Val5128=) c.15360G>A (p.Val5120=) c.15312G>A (p.Val5104=) c.15261G>A (p.Val5087=) | |
1 | g.19078049A>C | CA338748301 | UBR4 | c.15251T>G (p.Val5084Gly) c.2372T>G (p.Val791Gly) c.476T>G (p.Val159Gly) n.3258T>G c.15404T>G (p.Val5135Gly) c.15401T>G (p.Val5134Gly) c.15389T>G (p.Val5130Gly) c.15386T>G (p.Val5129Gly) c.15380T>G (p.Val5127Gly) c.15371T>G (p.Val5124Gly) c.15320T>G (p.Val5107Gly) c.15317T>G (p.Val5106Gly) c.15284T>G (p.Val5095Gly) c.15281T>G (p.Val5094Gly) c.15248T>G (p.Val5083Gly) c.15518T>G (p.Val5173Gly) c.15515T>G (p.Val5172Gly) c.15503T>G (p.Val5168Gly) c.15500T>G (p.Val5167Gly) c.15494T>G (p.Val5165Gly) c.15485T>G (p.Val5162Gly) c.15434T>G (p.Val5145Gly) c.15431T>G (p.Val5144Gly) c.15398T>G (p.Val5133Gly) c.15395T>G (p.Val5132Gly) c.15362T>G (p.Val5121Gly) c.15497T>G (p.Val5166Gly) c.15470T>G (p.Val5157Gly) c.15416T>G (p.Val5139Gly) c.15383T>G (p.Val5128Gly) c.15359T>G (p.Val5120Gly) c.15311T>G (p.Val5104Gly) c.15260T>G (p.Val5087Gly) | gnomAD v4 |
1 | g.19078049A>G | CA338748302 | UBR4 | c.15251T>C (p.Val5084Ala) c.2372T>C (p.Val791Ala) c.476T>C (p.Val159Ala) n.3258T>C c.15404T>C (p.Val5135Ala) c.15401T>C (p.Val5134Ala) c.15389T>C (p.Val5130Ala) c.15386T>C (p.Val5129Ala) c.15380T>C (p.Val5127Ala) c.15371T>C (p.Val5124Ala) c.15320T>C (p.Val5107Ala) c.15317T>C (p.Val5106Ala) c.15284T>C (p.Val5095Ala) c.15281T>C (p.Val5094Ala) c.15248T>C (p.Val5083Ala) c.15518T>C (p.Val5173Ala) c.15515T>C (p.Val5172Ala) c.15503T>C (p.Val5168Ala) c.15500T>C (p.Val5167Ala) c.15494T>C (p.Val5165Ala) c.15485T>C (p.Val5162Ala) c.15434T>C (p.Val5145Ala) c.15431T>C (p.Val5144Ala) c.15398T>C (p.Val5133Ala) c.15395T>C (p.Val5132Ala) c.15362T>C (p.Val5121Ala) c.15497T>C (p.Val5166Ala) c.15470T>C (p.Val5157Ala) c.15416T>C (p.Val5139Ala) c.15383T>C (p.Val5128Ala) c.15359T>C (p.Val5120Ala) c.15311T>C (p.Val5104Ala) c.15260T>C (p.Val5087Ala) | |
1 | g.19078049A>T | CA338748303 | UBR4 | c.15251T>A (p.Val5084Glu) c.2372T>A (p.Val791Glu) c.476T>A (p.Val159Glu) n.3258T>A c.15404T>A (p.Val5135Glu) c.15401T>A (p.Val5134Glu) c.15389T>A (p.Val5130Glu) c.15386T>A (p.Val5129Glu) c.15380T>A (p.Val5127Glu) c.15371T>A (p.Val5124Glu) c.15320T>A (p.Val5107Glu) c.15317T>A (p.Val5106Glu) c.15284T>A (p.Val5095Glu) c.15281T>A (p.Val5094Glu) c.15248T>A (p.Val5083Glu) c.15518T>A (p.Val5173Glu) c.15515T>A (p.Val5172Glu) c.15503T>A (p.Val5168Glu) c.15500T>A (p.Val5167Glu) c.15494T>A (p.Val5165Glu) c.15485T>A (p.Val5162Glu) c.15434T>A (p.Val5145Glu) c.15431T>A (p.Val5144Glu) c.15398T>A (p.Val5133Glu) c.15395T>A (p.Val5132Glu) c.15362T>A (p.Val5121Glu) c.15497T>A (p.Val5166Glu) c.15470T>A (p.Val5157Glu) c.15416T>A (p.Val5139Glu) c.15383T>A (p.Val5128Glu) c.15359T>A (p.Val5120Glu) c.15311T>A (p.Val5104Glu) c.15260T>A (p.Val5087Glu) | |
1 | g.19078050C>A | CA338748305 | UBR4 | c.15250G>T (p.Val5084Leu) c.2371G>T (p.Val791Leu) c.475G>T (p.Val159Leu) n.3257G>T c.15403G>T (p.Val5135Leu) c.15400G>T (p.Val5134Leu) c.15388G>T (p.Val5130Leu) c.15385G>T (p.Val5129Leu) c.15379G>T (p.Val5127Leu) c.15370G>T (p.Val5124Leu) c.15319G>T (p.Val5107Leu) c.15316G>T (p.Val5106Leu) c.15283G>T (p.Val5095Leu) c.15280G>T (p.Val5094Leu) c.15247G>T (p.Val5083Leu) c.15517G>T (p.Val5173Leu) c.15514G>T (p.Val5172Leu) c.15502G>T (p.Val5168Leu) c.15499G>T (p.Val5167Leu) c.15493G>T (p.Val5165Leu) c.15484G>T (p.Val5162Leu) c.15433G>T (p.Val5145Leu) c.15430G>T (p.Val5144Leu) c.15397G>T (p.Val5133Leu) c.15394G>T (p.Val5132Leu) c.15361G>T (p.Val5121Leu) c.15496G>T (p.Val5166Leu) c.15469G>T (p.Val5157Leu) c.15415G>T (p.Val5139Leu) c.15382G>T (p.Val5128Leu) c.15358G>T (p.Val5120Leu) c.15310G>T (p.Val5104Leu) c.15259G>T (p.Val5087Leu) | |
1 | g.19078050C= | CA1139925417 | UBR4 | c.15250G= (p.Val5084=) c.2371G= (p.Val791=) c.475G= (p.Val159=) n.3257G= c.15403G= (p.Val5135=) c.15400G= (p.Val5134=) c.15388G= (p.Val5130=) c.15385G= (p.Val5129=) c.15379G= (p.Val5127=) c.15370G= (p.Val5124=) c.15319G= (p.Val5107=) c.15316G= (p.Val5106=) c.15283G= (p.Val5095=) c.15280G= (p.Val5094=) c.15247G= (p.Val5083=) c.15517G= (p.Val5173=) c.15514G= (p.Val5172=) c.15502G= (p.Val5168=) c.15499G= (p.Val5167=) c.15493G= (p.Val5165=) c.15484G= (p.Val5162=) c.15433G= (p.Val5145=) c.15430G= (p.Val5144=) c.15397G= (p.Val5133=) c.15394G= (p.Val5132=) c.15361G= (p.Val5121=) c.15496G= (p.Val5166=) c.15469G= (p.Val5157=) c.15415G= (p.Val5139=) c.15382G= (p.Val5128=) c.15358G= (p.Val5120=) c.15310G= (p.Val5104=) c.15259G= (p.Val5087=) | |
1 | g.19078050C>G | CA338748307 | UBR4 | c.15250G>C (p.Val5084Leu) c.2371G>C (p.Val791Leu) c.475G>C (p.Val159Leu) n.3257G>C c.15403G>C (p.Val5135Leu) c.15400G>C (p.Val5134Leu) c.15388G>C (p.Val5130Leu) c.15385G>C (p.Val5129Leu) c.15379G>C (p.Val5127Leu) c.15370G>C (p.Val5124Leu) c.15319G>C (p.Val5107Leu) c.15316G>C (p.Val5106Leu) c.15283G>C (p.Val5095Leu) c.15280G>C (p.Val5094Leu) c.15247G>C (p.Val5083Leu) c.15517G>C (p.Val5173Leu) c.15514G>C (p.Val5172Leu) c.15502G>C (p.Val5168Leu) c.15499G>C (p.Val5167Leu) c.15493G>C (p.Val5165Leu) c.15484G>C (p.Val5162Leu) c.15433G>C (p.Val5145Leu) c.15430G>C (p.Val5144Leu) c.15397G>C (p.Val5133Leu) c.15394G>C (p.Val5132Leu) c.15361G>C (p.Val5121Leu) c.15496G>C (p.Val5166Leu) c.15469G>C (p.Val5157Leu) c.15415G>C (p.Val5139Leu) c.15382G>C (p.Val5128Leu) c.15358G>C (p.Val5120Leu) c.15310G>C (p.Val5104Leu) c.15259G>C (p.Val5087Leu) | |
1 | g.19078050C>T | CA647925 | UBR4 | c.15250G>A (p.Val5084Met) c.2371G>A (p.Val791Met) c.475G>A (p.Val159Met) n.3257G>A c.15403G>A (p.Val5135Met) c.15400G>A (p.Val5134Met) c.15388G>A (p.Val5130Met) c.15385G>A (p.Val5129Met) c.15379G>A (p.Val5127Met) c.15370G>A (p.Val5124Met) c.15319G>A (p.Val5107Met) c.15316G>A (p.Val5106Met) c.15283G>A (p.Val5095Met) c.15280G>A (p.Val5094Met) c.15247G>A (p.Val5083Met) c.15517G>A (p.Val5173Met) c.15514G>A (p.Val5172Met) c.15502G>A (p.Val5168Met) c.15499G>A (p.Val5167Met) c.15493G>A (p.Val5165Met) c.15484G>A (p.Val5162Met) c.15433G>A (p.Val5145Met) c.15430G>A (p.Val5144Met) c.15397G>A (p.Val5133Met) c.15394G>A (p.Val5132Met) c.15361G>A (p.Val5121Met) c.15496G>A (p.Val5166Met) c.15469G>A (p.Val5157Met) c.15415G>A (p.Val5139Met) c.15382G>A (p.Val5128Met) c.15358G>A (p.Val5120Met) c.15310G>A (p.Val5104Met) c.15259G>A (p.Val5087Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.19078051T>A | CA416453168 | UBR4 | c.15249A>T (p.Ala5083=) c.2370A>T (p.Ala790=) c.474A>T (p.Ala158=) n.3256A>T c.15402A>T (p.Ala5134=) c.15399A>T (p.Ala5133=) c.15387A>T (p.Ala5129=) c.15384A>T (p.Ala5128=) c.15378A>T (p.Ala5126=) c.15369A>T (p.Ala5123=) c.15318A>T (p.Ala5106=) c.15315A>T (p.Ala5105=) c.15282A>T (p.Ala5094=) c.15279A>T (p.Ala5093=) c.15246A>T (p.Ala5082=) c.15516A>T (p.Ala5172=) c.15513A>T (p.Ala5171=) c.15501A>T (p.Ala5167=) c.15498A>T (p.Ala5166=) c.15492A>T (p.Ala5164=) c.15483A>T (p.Ala5161=) c.15432A>T (p.Ala5144=) c.15429A>T (p.Ala5143=) c.15396A>T (p.Ala5132=) c.15393A>T (p.Ala5131=) c.15360A>T (p.Ala5120=) c.15495A>T (p.Ala5165=) c.15468A>T (p.Ala5156=) c.15414A>T (p.Ala5138=) c.15381A>T (p.Ala5127=) c.15357A>T (p.Ala5119=) c.15309A>T (p.Ala5103=) c.15258A>T (p.Ala5086=) | |
1 | g.19078051T>C | CA416453166 | UBR4 | c.15249A>G (p.Ala5083=) c.2370A>G (p.Ala790=) c.474A>G (p.Ala158=) n.3256A>G c.15402A>G (p.Ala5134=) c.15399A>G (p.Ala5133=) c.15387A>G (p.Ala5129=) c.15384A>G (p.Ala5128=) c.15378A>G (p.Ala5126=) c.15369A>G (p.Ala5123=) c.15318A>G (p.Ala5106=) c.15315A>G (p.Ala5105=) c.15282A>G (p.Ala5094=) c.15279A>G (p.Ala5093=) c.15246A>G (p.Ala5082=) c.15516A>G (p.Ala5172=) c.15513A>G (p.Ala5171=) c.15501A>G (p.Ala5167=) c.15498A>G (p.Ala5166=) c.15492A>G (p.Ala5164=) c.15483A>G (p.Ala5161=) c.15432A>G (p.Ala5144=) c.15429A>G (p.Ala5143=) c.15396A>G (p.Ala5132=) c.15393A>G (p.Ala5131=) c.15360A>G (p.Ala5120=) c.15495A>G (p.Ala5165=) c.15468A>G (p.Ala5156=) c.15414A>G (p.Ala5138=) c.15381A>G (p.Ala5127=) c.15357A>G (p.Ala5119=) c.15309A>G (p.Ala5103=) c.15258A>G (p.Ala5086=) | |
1 | g.19078051T>G | CA416453167 | UBR4 | c.15249A>C (p.Ala5083=) c.2370A>C (p.Ala790=) c.474A>C (p.Ala158=) n.3256A>C c.15402A>C (p.Ala5134=) c.15399A>C (p.Ala5133=) c.15387A>C (p.Ala5129=) c.15384A>C (p.Ala5128=) c.15378A>C (p.Ala5126=) c.15369A>C (p.Ala5123=) c.15318A>C (p.Ala5106=) c.15315A>C (p.Ala5105=) c.15282A>C (p.Ala5094=) c.15279A>C (p.Ala5093=) c.15246A>C (p.Ala5082=) c.15516A>C (p.Ala5172=) c.15513A>C (p.Ala5171=) c.15501A>C (p.Ala5167=) c.15498A>C (p.Ala5166=) c.15492A>C (p.Ala5164=) c.15483A>C (p.Ala5161=) c.15432A>C (p.Ala5144=) c.15429A>C (p.Ala5143=) c.15396A>C (p.Ala5132=) c.15393A>C (p.Ala5131=) c.15360A>C (p.Ala5120=) c.15495A>C (p.Ala5165=) c.15468A>C (p.Ala5156=) c.15414A>C (p.Ala5138=) c.15381A>C (p.Ala5127=) c.15357A>C (p.Ala5119=) c.15309A>C (p.Ala5103=) c.15258A>C (p.Ala5086=) | |
1 | g.19078052G>A | CA338748309 | UBR4 | c.15248C>T (p.Ala5083Val) c.2369C>T (p.Ala790Val) c.473C>T (p.Ala158Val) n.3255C>T c.15401C>T (p.Ala5134Val) c.15398C>T (p.Ala5133Val) c.15386C>T (p.Ala5129Val) c.15383C>T (p.Ala5128Val) c.15377C>T (p.Ala5126Val) c.15368C>T (p.Ala5123Val) c.15317C>T (p.Ala5106Val) c.15314C>T (p.Ala5105Val) c.15281C>T (p.Ala5094Val) c.15278C>T (p.Ala5093Val) c.15245C>T (p.Ala5082Val) c.15515C>T (p.Ala5172Val) c.15512C>T (p.Ala5171Val) c.15500C>T (p.Ala5167Val) c.15497C>T (p.Ala5166Val) c.15491C>T (p.Ala5164Val) c.15482C>T (p.Ala5161Val) c.15431C>T (p.Ala5144Val) c.15428C>T (p.Ala5143Val) c.15395C>T (p.Ala5132Val) c.15392C>T (p.Ala5131Val) c.15359C>T (p.Ala5120Val) c.15494C>T (p.Ala5165Val) c.15467C>T (p.Ala5156Val) c.15413C>T (p.Ala5138Val) c.15380C>T (p.Ala5127Val) c.15356C>T (p.Ala5119Val) c.15308C>T (p.Ala5103Val) c.15257C>T (p.Ala5086Val) | |
1 | g.19078052G>C | CA338748310 | UBR4 | c.15248C>G (p.Ala5083Gly) c.2369C>G (p.Ala790Gly) c.473C>G (p.Ala158Gly) n.3255C>G c.15401C>G (p.Ala5134Gly) c.15398C>G (p.Ala5133Gly) c.15386C>G (p.Ala5129Gly) c.15383C>G (p.Ala5128Gly) c.15377C>G (p.Ala5126Gly) c.15368C>G (p.Ala5123Gly) c.15317C>G (p.Ala5106Gly) c.15314C>G (p.Ala5105Gly) c.15281C>G (p.Ala5094Gly) c.15278C>G (p.Ala5093Gly) c.15245C>G (p.Ala5082Gly) c.15515C>G (p.Ala5172Gly) c.15512C>G (p.Ala5171Gly) c.15500C>G (p.Ala5167Gly) c.15497C>G (p.Ala5166Gly) c.15491C>G (p.Ala5164Gly) c.15482C>G (p.Ala5161Gly) c.15431C>G (p.Ala5144Gly) c.15428C>G (p.Ala5143Gly) c.15395C>G (p.Ala5132Gly) c.15392C>G (p.Ala5131Gly) c.15359C>G (p.Ala5120Gly) c.15494C>G (p.Ala5165Gly) c.15467C>G (p.Ala5156Gly) c.15413C>G (p.Ala5138Gly) c.15380C>G (p.Ala5127Gly) c.15356C>G (p.Ala5119Gly) c.15308C>G (p.Ala5103Gly) c.15257C>G (p.Ala5086Gly) | |
1 | g.19078052G>T | CA338748313 | UBR4 | c.15248C>A (p.Ala5083Glu) c.2369C>A (p.Ala790Glu) c.473C>A (p.Ala158Glu) n.3255C>A c.15401C>A (p.Ala5134Glu) c.15398C>A (p.Ala5133Glu) c.15386C>A (p.Ala5129Glu) c.15383C>A (p.Ala5128Glu) c.15377C>A (p.Ala5126Glu) c.15368C>A (p.Ala5123Glu) c.15317C>A (p.Ala5106Glu) c.15314C>A (p.Ala5105Glu) c.15281C>A (p.Ala5094Glu) c.15278C>A (p.Ala5093Glu) c.15245C>A (p.Ala5082Glu) c.15515C>A (p.Ala5172Glu) c.15512C>A (p.Ala5171Glu) c.15500C>A (p.Ala5167Glu) c.15497C>A (p.Ala5166Glu) c.15491C>A (p.Ala5164Glu) c.15482C>A (p.Ala5161Glu) c.15431C>A (p.Ala5144Glu) c.15428C>A (p.Ala5143Glu) c.15395C>A (p.Ala5132Glu) c.15392C>A (p.Ala5131Glu) c.15359C>A (p.Ala5120Glu) c.15494C>A (p.Ala5165Glu) c.15467C>A (p.Ala5156Glu) c.15413C>A (p.Ala5138Glu) c.15380C>A (p.Ala5127Glu) c.15356C>A (p.Ala5119Glu) c.15308C>A (p.Ala5103Glu) c.15257C>A (p.Ala5086Glu) | |
1 | g.19078053C>A | CA338748317 | UBR4 | c.15247G>T (p.Ala5083Ser) c.2368G>T (p.Ala790Ser) c.472G>T (p.Ala158Ser) n.3254G>T c.15400G>T (p.Ala5134Ser) c.15397G>T (p.Ala5133Ser) c.15385G>T (p.Ala5129Ser) c.15382G>T (p.Ala5128Ser) c.15376G>T (p.Ala5126Ser) c.15367G>T (p.Ala5123Ser) c.15316G>T (p.Ala5106Ser) c.15313G>T (p.Ala5105Ser) c.15280G>T (p.Ala5094Ser) c.15277G>T (p.Ala5093Ser) c.15244G>T (p.Ala5082Ser) c.15514G>T (p.Ala5172Ser) c.15511G>T (p.Ala5171Ser) c.15499G>T (p.Ala5167Ser) c.15496G>T (p.Ala5166Ser) c.15490G>T (p.Ala5164Ser) c.15481G>T (p.Ala5161Ser) c.15430G>T (p.Ala5144Ser) c.15427G>T (p.Ala5143Ser) c.15394G>T (p.Ala5132Ser) c.15391G>T (p.Ala5131Ser) c.15358G>T (p.Ala5120Ser) c.15493G>T (p.Ala5165Ser) c.15466G>T (p.Ala5156Ser) c.15412G>T (p.Ala5138Ser) c.15379G>T (p.Ala5127Ser) c.15355G>T (p.Ala5119Ser) c.15307G>T (p.Ala5103Ser) c.15256G>T (p.Ala5086Ser) | |
1 | g.19078053C>G | CA338748316 | UBR4 | c.15247G>C (p.Ala5083Pro) c.2368G>C (p.Ala790Pro) c.472G>C (p.Ala158Pro) n.3254G>C c.15400G>C (p.Ala5134Pro) c.15397G>C (p.Ala5133Pro) c.15385G>C (p.Ala5129Pro) c.15382G>C (p.Ala5128Pro) c.15376G>C (p.Ala5126Pro) c.15367G>C (p.Ala5123Pro) c.15316G>C (p.Ala5106Pro) c.15313G>C (p.Ala5105Pro) c.15280G>C (p.Ala5094Pro) c.15277G>C (p.Ala5093Pro) c.15244G>C (p.Ala5082Pro) c.15514G>C (p.Ala5172Pro) c.15511G>C (p.Ala5171Pro) c.15499G>C (p.Ala5167Pro) c.15496G>C (p.Ala5166Pro) c.15490G>C (p.Ala5164Pro) c.15481G>C (p.Ala5161Pro) c.15430G>C (p.Ala5144Pro) c.15427G>C (p.Ala5143Pro) c.15394G>C (p.Ala5132Pro) c.15391G>C (p.Ala5131Pro) c.15358G>C (p.Ala5120Pro) c.15493G>C (p.Ala5165Pro) c.15466G>C (p.Ala5156Pro) c.15412G>C (p.Ala5138Pro) c.15379G>C (p.Ala5127Pro) c.15355G>C (p.Ala5119Pro) c.15307G>C (p.Ala5103Pro) c.15256G>C (p.Ala5086Pro) | |
1 | g.19078053C>T | CA338748314 | UBR4 | c.15247G>A (p.Ala5083Thr) c.2368G>A (p.Ala790Thr) c.472G>A (p.Ala158Thr) n.3254G>A c.15400G>A (p.Ala5134Thr) c.15397G>A (p.Ala5133Thr) c.15385G>A (p.Ala5129Thr) c.15382G>A (p.Ala5128Thr) c.15376G>A (p.Ala5126Thr) c.15367G>A (p.Ala5123Thr) c.15316G>A (p.Ala5106Thr) c.15313G>A (p.Ala5105Thr) c.15280G>A (p.Ala5094Thr) c.15277G>A (p.Ala5093Thr) c.15244G>A (p.Ala5082Thr) c.15514G>A (p.Ala5172Thr) c.15511G>A (p.Ala5171Thr) c.15499G>A (p.Ala5167Thr) c.15496G>A (p.Ala5166Thr) c.15490G>A (p.Ala5164Thr) c.15481G>A (p.Ala5161Thr) c.15430G>A (p.Ala5144Thr) c.15427G>A (p.Ala5143Thr) c.15394G>A (p.Ala5132Thr) c.15391G>A (p.Ala5131Thr) c.15358G>A (p.Ala5120Thr) c.15493G>A (p.Ala5165Thr) c.15466G>A (p.Ala5156Thr) c.15412G>A (p.Ala5138Thr) c.15379G>A (p.Ala5127Thr) c.15355G>A (p.Ala5119Thr) c.15307G>A (p.Ala5103Thr) c.15256G>A (p.Ala5086Thr) | |
1 | g.19078054C>A | CA338748319 | UBR4 | c.15246G>T (p.Lys5082Asn) c.2367G>T (p.Lys789Asn) c.471G>T (p.Lys157Asn) n.3253G>T c.15399G>T (p.Lys5133Asn) c.15396G>T (p.Lys5132Asn) c.15384G>T (p.Lys5128Asn) c.15381G>T (p.Lys5127Asn) c.15375G>T (p.Lys5125Asn) c.15366G>T (p.Lys5122Asn) c.15315G>T (p.Lys5105Asn) c.15312G>T (p.Lys5104Asn) c.15279G>T (p.Lys5093Asn) c.15276G>T (p.Lys5092Asn) c.15243G>T (p.Lys5081Asn) c.15513G>T (p.Lys5171Asn) c.15510G>T (p.Lys5170Asn) c.15498G>T (p.Lys5166Asn) c.15495G>T (p.Lys5165Asn) c.15489G>T (p.Lys5163Asn) c.15480G>T (p.Lys5160Asn) c.15429G>T (p.Lys5143Asn) c.15426G>T (p.Lys5142Asn) c.15393G>T (p.Lys5131Asn) c.15390G>T (p.Lys5130Asn) c.15357G>T (p.Lys5119Asn) c.15492G>T (p.Lys5164Asn) c.15465G>T (p.Lys5155Asn) c.15411G>T (p.Lys5137Asn) c.15378G>T (p.Lys5126Asn) c.15354G>T (p.Lys5118Asn) c.15306G>T (p.Lys5102Asn) c.15255G>T (p.Lys5085Asn) | |
1 | g.19078054C= | CA1156956087 | UBR4 | c.15246G= (p.Lys5082=) c.2367G= (p.Lys789=) c.471G= (p.Lys157=) n.3253G= c.15399G= (p.Lys5133=) c.15396G= (p.Lys5132=) c.15384G= (p.Lys5128=) c.15381G= (p.Lys5127=) c.15375G= (p.Lys5125=) c.15366G= (p.Lys5122=) c.15315G= (p.Lys5105=) c.15312G= (p.Lys5104=) c.15279G= (p.Lys5093=) c.15276G= (p.Lys5092=) c.15243G= (p.Lys5081=) c.15513G= (p.Lys5171=) c.15510G= (p.Lys5170=) c.15498G= (p.Lys5166=) c.15495G= (p.Lys5165=) c.15489G= (p.Lys5163=) c.15480G= (p.Lys5160=) c.15429G= (p.Lys5143=) c.15426G= (p.Lys5142=) c.15393G= (p.Lys5131=) c.15390G= (p.Lys5130=) c.15357G= (p.Lys5119=) c.15492G= (p.Lys5164=) c.15465G= (p.Lys5155=) c.15411G= (p.Lys5137=) c.15378G= (p.Lys5126=) c.15354G= (p.Lys5118=) c.15306G= (p.Lys5102=) c.15255G= (p.Lys5085=) | |
1 | g.19078054C>G | CA338748320 | UBR4 | c.15246G>C (p.Lys5082Asn) c.2367G>C (p.Lys789Asn) c.471G>C (p.Lys157Asn) n.3253G>C c.15399G>C (p.Lys5133Asn) c.15396G>C (p.Lys5132Asn) c.15384G>C (p.Lys5128Asn) c.15381G>C (p.Lys5127Asn) c.15375G>C (p.Lys5125Asn) c.15366G>C (p.Lys5122Asn) c.15315G>C (p.Lys5105Asn) c.15312G>C (p.Lys5104Asn) c.15279G>C (p.Lys5093Asn) c.15276G>C (p.Lys5092Asn) c.15243G>C (p.Lys5081Asn) c.15513G>C (p.Lys5171Asn) c.15510G>C (p.Lys5170Asn) c.15498G>C (p.Lys5166Asn) c.15495G>C (p.Lys5165Asn) c.15489G>C (p.Lys5163Asn) c.15480G>C (p.Lys5160Asn) c.15429G>C (p.Lys5143Asn) c.15426G>C (p.Lys5142Asn) c.15393G>C (p.Lys5131Asn) c.15390G>C (p.Lys5130Asn) c.15357G>C (p.Lys5119Asn) c.15492G>C (p.Lys5164Asn) c.15465G>C (p.Lys5155Asn) c.15411G>C (p.Lys5137Asn) c.15378G>C (p.Lys5126Asn) c.15354G>C (p.Lys5118Asn) c.15306G>C (p.Lys5102Asn) c.15255G>C (p.Lys5085Asn) | |
1 | g.19078054C>T | CA416453169 | UBR4 | c.15246G>A (p.Lys5082=) c.2367G>A (p.Lys789=) c.471G>A (p.Lys157=) n.3253G>A c.15399G>A (p.Lys5133=) c.15396G>A (p.Lys5132=) c.15384G>A (p.Lys5128=) c.15381G>A (p.Lys5127=) c.15375G>A (p.Lys5125=) c.15366G>A (p.Lys5122=) c.15315G>A (p.Lys5105=) c.15312G>A (p.Lys5104=) c.15279G>A (p.Lys5093=) c.15276G>A (p.Lys5092=) c.15243G>A (p.Lys5081=) c.15513G>A (p.Lys5171=) c.15510G>A (p.Lys5170=) c.15498G>A (p.Lys5166=) c.15495G>A (p.Lys5165=) c.15489G>A (p.Lys5163=) c.15480G>A (p.Lys5160=) c.15429G>A (p.Lys5143=) c.15426G>A (p.Lys5142=) c.15393G>A (p.Lys5131=) c.15390G>A (p.Lys5130=) c.15357G>A (p.Lys5119=) c.15492G>A (p.Lys5164=) c.15465G>A (p.Lys5155=) c.15411G>A (p.Lys5137=) c.15378G>A (p.Lys5126=) c.15354G>A (p.Lys5118=) c.15306G>A (p.Lys5102=) c.15255G>A (p.Lys5085=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.19078055T>A | CA338748321 | UBR4 | c.15245A>T (p.Lys5082Met) c.2366A>T (p.Lys789Met) c.470A>T (p.Lys157Met) n.3252A>T c.15398A>T (p.Lys5133Met) c.15395A>T (p.Lys5132Met) c.15383A>T (p.Lys5128Met) c.15380A>T (p.Lys5127Met) c.15374A>T (p.Lys5125Met) c.15365A>T (p.Lys5122Met) c.15314A>T (p.Lys5105Met) c.15311A>T (p.Lys5104Met) c.15278A>T (p.Lys5093Met) c.15275A>T (p.Lys5092Met) c.15242A>T (p.Lys5081Met) c.15512A>T (p.Lys5171Met) c.15509A>T (p.Lys5170Met) c.15497A>T (p.Lys5166Met) c.15494A>T (p.Lys5165Met) c.15488A>T (p.Lys5163Met) c.15479A>T (p.Lys5160Met) c.15428A>T (p.Lys5143Met) c.15425A>T (p.Lys5142Met) c.15392A>T (p.Lys5131Met) c.15389A>T (p.Lys5130Met) c.15356A>T (p.Lys5119Met) c.15491A>T (p.Lys5164Met) c.15464A>T (p.Lys5155Met) c.15410A>T (p.Lys5137Met) c.15377A>T (p.Lys5126Met) c.15353A>T (p.Lys5118Met) c.15305A>T (p.Lys5102Met) c.15254A>T (p.Lys5085Met) | |
1 | g.19078055T>C | CA338748323 | UBR4 | c.15245A>G (p.Lys5082Arg) c.2366A>G (p.Lys789Arg) c.470A>G (p.Lys157Arg) n.3252A>G c.15398A>G (p.Lys5133Arg) c.15395A>G (p.Lys5132Arg) c.15383A>G (p.Lys5128Arg) c.15380A>G (p.Lys5127Arg) c.15374A>G (p.Lys5125Arg) c.15365A>G (p.Lys5122Arg) c.15314A>G (p.Lys5105Arg) c.15311A>G (p.Lys5104Arg) c.15278A>G (p.Lys5093Arg) c.15275A>G (p.Lys5092Arg) c.15242A>G (p.Lys5081Arg) c.15512A>G (p.Lys5171Arg) c.15509A>G (p.Lys5170Arg) c.15497A>G (p.Lys5166Arg) c.15494A>G (p.Lys5165Arg) c.15488A>G (p.Lys5163Arg) c.15479A>G (p.Lys5160Arg) c.15428A>G (p.Lys5143Arg) c.15425A>G (p.Lys5142Arg) c.15392A>G (p.Lys5131Arg) c.15389A>G (p.Lys5130Arg) c.15356A>G (p.Lys5119Arg) c.15491A>G (p.Lys5164Arg) c.15464A>G (p.Lys5155Arg) c.15410A>G (p.Lys5137Arg) c.15377A>G (p.Lys5126Arg) c.15353A>G (p.Lys5118Arg) c.15305A>G (p.Lys5102Arg) c.15254A>G (p.Lys5085Arg) | dbSNP |
1 | g.19078055T>G | CA338748326 | UBR4 | c.15245A>C (p.Lys5082Thr) c.2366A>C (p.Lys789Thr) c.470A>C (p.Lys157Thr) n.3252A>C c.15398A>C (p.Lys5133Thr) c.15395A>C (p.Lys5132Thr) c.15383A>C (p.Lys5128Thr) c.15380A>C (p.Lys5127Thr) c.15374A>C (p.Lys5125Thr) c.15365A>C (p.Lys5122Thr) c.15314A>C (p.Lys5105Thr) c.15311A>C (p.Lys5104Thr) c.15278A>C (p.Lys5093Thr) c.15275A>C (p.Lys5092Thr) c.15242A>C (p.Lys5081Thr) c.15512A>C (p.Lys5171Thr) c.15509A>C (p.Lys5170Thr) c.15497A>C (p.Lys5166Thr) c.15494A>C (p.Lys5165Thr) c.15488A>C (p.Lys5163Thr) c.15479A>C (p.Lys5160Thr) c.15428A>C (p.Lys5143Thr) c.15425A>C (p.Lys5142Thr) c.15392A>C (p.Lys5131Thr) c.15389A>C (p.Lys5130Thr) c.15356A>C (p.Lys5119Thr) c.15491A>C (p.Lys5164Thr) c.15464A>C (p.Lys5155Thr) c.15410A>C (p.Lys5137Thr) c.15377A>C (p.Lys5126Thr) c.15353A>C (p.Lys5118Thr) c.15305A>C (p.Lys5102Thr) c.15254A>C (p.Lys5085Thr) | |
1 | g.19078055T= | CA1156956088 | UBR4 | c.15245A= (p.Lys5082=) c.2366A= (p.Lys789=) c.470A= (p.Lys157=) n.3252A= c.15398A= (p.Lys5133=) c.15395A= (p.Lys5132=) c.15383A= (p.Lys5128=) c.15380A= (p.Lys5127=) c.15374A= (p.Lys5125=) c.15365A= (p.Lys5122=) c.15314A= (p.Lys5105=) c.15311A= (p.Lys5104=) c.15278A= (p.Lys5093=) c.15275A= (p.Lys5092=) c.15242A= (p.Lys5081=) c.15512A= (p.Lys5171=) c.15509A= (p.Lys5170=) c.15497A= (p.Lys5166=) c.15494A= (p.Lys5165=) c.15488A= (p.Lys5163=) c.15479A= (p.Lys5160=) c.15428A= (p.Lys5143=) c.15425A= (p.Lys5142=) c.15392A= (p.Lys5131=) c.15389A= (p.Lys5130=) c.15356A= (p.Lys5119=) c.15491A= (p.Lys5164=) c.15464A= (p.Lys5155=) c.15410A= (p.Lys5137=) c.15377A= (p.Lys5126=) c.15353A= (p.Lys5118=) c.15305A= (p.Lys5102=) c.15254A= (p.Lys5085=) | |
1 | g.19078056T>A | CA338748327 | UBR4 | c.15244A>T (p.Lys5082Ter) c.2365A>T (p.Lys789Ter) c.469A>T (p.Lys157Ter) n.3251A>T c.15397A>T (p.Lys5133Ter) c.15394A>T (p.Lys5132Ter) c.15382A>T (p.Lys5128Ter) c.15379A>T (p.Lys5127Ter) c.15373A>T (p.Lys5125Ter) c.15364A>T (p.Lys5122Ter) c.15313A>T (p.Lys5105Ter) c.15310A>T (p.Lys5104Ter) c.15277A>T (p.Lys5093Ter) c.15274A>T (p.Lys5092Ter) c.15241A>T (p.Lys5081Ter) c.15511A>T (p.Lys5171Ter) c.15508A>T (p.Lys5170Ter) c.15496A>T (p.Lys5166Ter) c.15493A>T (p.Lys5165Ter) c.15487A>T (p.Lys5163Ter) c.15478A>T (p.Lys5160Ter) c.15427A>T (p.Lys5143Ter) c.15424A>T (p.Lys5142Ter) c.15391A>T (p.Lys5131Ter) c.15388A>T (p.Lys5130Ter) c.15355A>T (p.Lys5119Ter) c.15490A>T (p.Lys5164Ter) c.15463A>T (p.Lys5155Ter) c.15409A>T (p.Lys5137Ter) c.15376A>T (p.Lys5126Ter) c.15352A>T (p.Lys5118Ter) c.15304A>T (p.Lys5102Ter) c.15253A>T (p.Lys5085Ter) | |
1 | g.19078056T>C | CA338748328 | UBR4 | c.15244A>G (p.Lys5082Glu) c.2365A>G (p.Lys789Glu) c.469A>G (p.Lys157Glu) n.3251A>G c.15397A>G (p.Lys5133Glu) c.15394A>G (p.Lys5132Glu) c.15382A>G (p.Lys5128Glu) c.15379A>G (p.Lys5127Glu) c.15373A>G (p.Lys5125Glu) c.15364A>G (p.Lys5122Glu) c.15313A>G (p.Lys5105Glu) c.15310A>G (p.Lys5104Glu) c.15277A>G (p.Lys5093Glu) c.15274A>G (p.Lys5092Glu) c.15241A>G (p.Lys5081Glu) c.15511A>G (p.Lys5171Glu) c.15508A>G (p.Lys5170Glu) c.15496A>G (p.Lys5166Glu) c.15493A>G (p.Lys5165Glu) c.15487A>G (p.Lys5163Glu) c.15478A>G (p.Lys5160Glu) c.15427A>G (p.Lys5143Glu) c.15424A>G (p.Lys5142Glu) c.15391A>G (p.Lys5131Glu) c.15388A>G (p.Lys5130Glu) c.15355A>G (p.Lys5119Glu) c.15490A>G (p.Lys5164Glu) c.15463A>G (p.Lys5155Glu) c.15409A>G (p.Lys5137Glu) c.15376A>G (p.Lys5126Glu) c.15352A>G (p.Lys5118Glu) c.15304A>G (p.Lys5102Glu) c.15253A>G (p.Lys5085Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.19078056T>G | CA338748330 | UBR4 | c.15244A>C (p.Lys5082Gln) c.2365A>C (p.Lys789Gln) c.469A>C (p.Lys157Gln) n.3251A>C c.15397A>C (p.Lys5133Gln) c.15394A>C (p.Lys5132Gln) c.15382A>C (p.Lys5128Gln) c.15379A>C (p.Lys5127Gln) c.15373A>C (p.Lys5125Gln) c.15364A>C (p.Lys5122Gln) c.15313A>C (p.Lys5105Gln) c.15310A>C (p.Lys5104Gln) c.15277A>C (p.Lys5093Gln) c.15274A>C (p.Lys5092Gln) c.15241A>C (p.Lys5081Gln) c.15511A>C (p.Lys5171Gln) c.15508A>C (p.Lys5170Gln) c.15496A>C (p.Lys5166Gln) c.15493A>C (p.Lys5165Gln) c.15487A>C (p.Lys5163Gln) c.15478A>C (p.Lys5160Gln) c.15427A>C (p.Lys5143Gln) c.15424A>C (p.Lys5142Gln) c.15391A>C (p.Lys5131Gln) c.15388A>C (p.Lys5130Gln) c.15355A>C (p.Lys5119Gln) c.15490A>C (p.Lys5164Gln) c.15463A>C (p.Lys5155Gln) c.15409A>C (p.Lys5137Gln) c.15376A>C (p.Lys5126Gln) c.15352A>C (p.Lys5118Gln) c.15304A>C (p.Lys5102Gln) c.15253A>C (p.Lys5085Gln) | |
1 | g.19078056T= | CA1156956089 | UBR4 | c.15244A= (p.Lys5082=) c.2365A= (p.Lys789=) c.469A= (p.Lys157=) n.3251A= c.15397A= (p.Lys5133=) c.15394A= (p.Lys5132=) c.15382A= (p.Lys5128=) c.15379A= (p.Lys5127=) c.15373A= (p.Lys5125=) c.15364A= (p.Lys5122=) c.15313A= (p.Lys5105=) c.15310A= (p.Lys5104=) c.15277A= (p.Lys5093=) c.15274A= (p.Lys5092=) c.15241A= (p.Lys5081=) c.15511A= (p.Lys5171=) c.15508A= (p.Lys5170=) c.15496A= (p.Lys5166=) c.15493A= (p.Lys5165=) c.15487A= (p.Lys5163=) c.15478A= (p.Lys5160=) c.15427A= (p.Lys5143=) c.15424A= (p.Lys5142=) c.15391A= (p.Lys5131=) c.15388A= (p.Lys5130=) c.15355A= (p.Lys5119=) c.15490A= (p.Lys5164=) c.15463A= (p.Lys5155=) c.15409A= (p.Lys5137=) c.15376A= (p.Lys5126=) c.15352A= (p.Lys5118=) c.15304A= (p.Lys5102=) c.15253A= (p.Lys5085=) | |
1 | g.19078057A>C | CA338748332 | UBR4 | c.15243T>G (p.Asp5081Glu) c.2364T>G (p.Asp788Glu) c.468T>G (p.Asp156Glu) n.3250T>G c.15396T>G (p.Asp5132Glu) c.15393T>G (p.Asp5131Glu) c.15381T>G (p.Asp5127Glu) c.15378T>G (p.Asp5126Glu) c.15372T>G (p.Asp5124Glu) c.15363T>G (p.Asp5121Glu) c.15312T>G (p.Asp5104Glu) c.15309T>G (p.Asp5103Glu) c.15276T>G (p.Asp5092Glu) c.15273T>G (p.Asp5091Glu) c.15240T>G (p.Asp5080Glu) c.15510T>G (p.Asp5170Glu) c.15507T>G (p.Asp5169Glu) c.15495T>G (p.Asp5165Glu) c.15492T>G (p.Asp5164Glu) c.15486T>G (p.Asp5162Glu) c.15477T>G (p.Asp5159Glu) c.15426T>G (p.Asp5142Glu) c.15423T>G (p.Asp5141Glu) c.15390T>G (p.Asp5130Glu) c.15387T>G (p.Asp5129Glu) c.15354T>G (p.Asp5118Glu) c.15489T>G (p.Asp5163Glu) c.15462T>G (p.Asp5154Glu) c.15408T>G (p.Asp5136Glu) c.15375T>G (p.Asp5125Glu) c.15351T>G (p.Asp5117Glu) c.15303T>G (p.Asp5101Glu) c.15252T>G (p.Asp5084Glu) | |
1 | g.19078057A>G | CA416453170 | UBR4 | c.15243T>C (p.Asp5081=) c.2364T>C (p.Asp788=) c.468T>C (p.Asp156=) n.3250T>C c.15396T>C (p.Asp5132=) c.15393T>C (p.Asp5131=) c.15381T>C (p.Asp5127=) c.15378T>C (p.Asp5126=) c.15372T>C (p.Asp5124=) c.15363T>C (p.Asp5121=) c.15312T>C (p.Asp5104=) c.15309T>C (p.Asp5103=) c.15276T>C (p.Asp5092=) c.15273T>C (p.Asp5091=) c.15240T>C (p.Asp5080=) c.15510T>C (p.Asp5170=) c.15507T>C (p.Asp5169=) c.15495T>C (p.Asp5165=) c.15492T>C (p.Asp5164=) c.15486T>C (p.Asp5162=) c.15477T>C (p.Asp5159=) c.15426T>C (p.Asp5142=) c.15423T>C (p.Asp5141=) c.15390T>C (p.Asp5130=) c.15387T>C (p.Asp5129=) c.15354T>C (p.Asp5118=) c.15489T>C (p.Asp5163=) c.15462T>C (p.Asp5154=) c.15408T>C (p.Asp5136=) c.15375T>C (p.Asp5125=) c.15351T>C (p.Asp5117=) c.15303T>C (p.Asp5101=) c.15252T>C (p.Asp5084=) | |
1 | g.19078057A>T | CA338748333 | UBR4 | c.15243T>A (p.Asp5081Glu) c.2364T>A (p.Asp788Glu) c.468T>A (p.Asp156Glu) n.3250T>A c.15396T>A (p.Asp5132Glu) c.15393T>A (p.Asp5131Glu) c.15381T>A (p.Asp5127Glu) c.15378T>A (p.Asp5126Glu) c.15372T>A (p.Asp5124Glu) c.15363T>A (p.Asp5121Glu) c.15312T>A (p.Asp5104Glu) c.15309T>A (p.Asp5103Glu) c.15276T>A (p.Asp5092Glu) c.15273T>A (p.Asp5091Glu) c.15240T>A (p.Asp5080Glu) c.15510T>A (p.Asp5170Glu) c.15507T>A (p.Asp5169Glu) c.15495T>A (p.Asp5165Glu) c.15492T>A (p.Asp5164Glu) c.15486T>A (p.Asp5162Glu) c.15477T>A (p.Asp5159Glu) c.15426T>A (p.Asp5142Glu) c.15423T>A (p.Asp5141Glu) c.15390T>A (p.Asp5130Glu) c.15387T>A (p.Asp5129Glu) c.15354T>A (p.Asp5118Glu) c.15489T>A (p.Asp5163Glu) c.15462T>A (p.Asp5154Glu) c.15408T>A (p.Asp5136Glu) c.15375T>A (p.Asp5125Glu) c.15351T>A (p.Asp5117Glu) c.15303T>A (p.Asp5101Glu) c.15252T>A (p.Asp5084Glu) | |
1 | g.19078058T>A | CA338748336 | UBR4 | c.15242A>T (p.Asp5081Val) c.2363A>T (p.Asp788Val) c.467A>T (p.Asp156Val) n.3249A>T c.15395A>T (p.Asp5132Val) c.15392A>T (p.Asp5131Val) c.15380A>T (p.Asp5127Val) c.15377A>T (p.Asp5126Val) c.15371A>T (p.Asp5124Val) c.15362A>T (p.Asp5121Val) c.15311A>T (p.Asp5104Val) c.15308A>T (p.Asp5103Val) c.15275A>T (p.Asp5092Val) c.15272A>T (p.Asp5091Val) c.15239A>T (p.Asp5080Val) c.15509A>T (p.Asp5170Val) c.15506A>T (p.Asp5169Val) c.15494A>T (p.Asp5165Val) c.15491A>T (p.Asp5164Val) c.15485A>T (p.Asp5162Val) c.15476A>T (p.Asp5159Val) c.15425A>T (p.Asp5142Val) c.15422A>T (p.Asp5141Val) c.15389A>T (p.Asp5130Val) c.15386A>T (p.Asp5129Val) c.15353A>T (p.Asp5118Val) c.15488A>T (p.Asp5163Val) c.15461A>T (p.Asp5154Val) c.15407A>T (p.Asp5136Val) c.15374A>T (p.Asp5125Val) c.15350A>T (p.Asp5117Val) c.15302A>T (p.Asp5101Val) c.15251A>T (p.Asp5084Val) | |
1 | g.19078058T>C | CA338748337 | UBR4 | c.15242A>G (p.Asp5081Gly) c.2363A>G (p.Asp788Gly) c.467A>G (p.Asp156Gly) n.3249A>G c.15395A>G (p.Asp5132Gly) c.15392A>G (p.Asp5131Gly) c.15380A>G (p.Asp5127Gly) c.15377A>G (p.Asp5126Gly) c.15371A>G (p.Asp5124Gly) c.15362A>G (p.Asp5121Gly) c.15311A>G (p.Asp5104Gly) c.15308A>G (p.Asp5103Gly) c.15275A>G (p.Asp5092Gly) c.15272A>G (p.Asp5091Gly) c.15239A>G (p.Asp5080Gly) c.15509A>G (p.Asp5170Gly) c.15506A>G (p.Asp5169Gly) c.15494A>G (p.Asp5165Gly) c.15491A>G (p.Asp5164Gly) c.15485A>G (p.Asp5162Gly) c.15476A>G (p.Asp5159Gly) c.15425A>G (p.Asp5142Gly) c.15422A>G (p.Asp5141Gly) c.15389A>G (p.Asp5130Gly) c.15386A>G (p.Asp5129Gly) c.15353A>G (p.Asp5118Gly) c.15488A>G (p.Asp5163Gly) c.15461A>G (p.Asp5154Gly) c.15407A>G (p.Asp5136Gly) c.15374A>G (p.Asp5125Gly) c.15350A>G (p.Asp5117Gly) c.15302A>G (p.Asp5101Gly) c.15251A>G (p.Asp5084Gly) | |
1 | g.19078058T>G | CA338748339 | UBR4 | c.15242A>C (p.Asp5081Ala) c.2363A>C (p.Asp788Ala) c.467A>C (p.Asp156Ala) n.3249A>C c.15395A>C (p.Asp5132Ala) c.15392A>C (p.Asp5131Ala) c.15380A>C (p.Asp5127Ala) c.15377A>C (p.Asp5126Ala) c.15371A>C (p.Asp5124Ala) c.15362A>C (p.Asp5121Ala) c.15311A>C (p.Asp5104Ala) c.15308A>C (p.Asp5103Ala) c.15275A>C (p.Asp5092Ala) c.15272A>C (p.Asp5091Ala) c.15239A>C (p.Asp5080Ala) c.15509A>C (p.Asp5170Ala) c.15506A>C (p.Asp5169Ala) c.15494A>C (p.Asp5165Ala) c.15491A>C (p.Asp5164Ala) c.15485A>C (p.Asp5162Ala) c.15476A>C (p.Asp5159Ala) c.15425A>C (p.Asp5142Ala) c.15422A>C (p.Asp5141Ala) c.15389A>C (p.Asp5130Ala) c.15386A>C (p.Asp5129Ala) c.15353A>C (p.Asp5118Ala) c.15488A>C (p.Asp5163Ala) c.15461A>C (p.Asp5154Ala) c.15407A>C (p.Asp5136Ala) c.15374A>C (p.Asp5125Ala) c.15350A>C (p.Asp5117Ala) c.15302A>C (p.Asp5101Ala) c.15251A>C (p.Asp5084Ala) | gnomAD v4 |
1 | g.19078059C>A | CA338748344 | UBR4 | c.15241G>T (p.Asp5081Tyr) c.2362G>T (p.Asp788Tyr) c.466G>T (p.Asp156Tyr) n.3248G>T c.15394G>T (p.Asp5132Tyr) c.15391G>T (p.Asp5131Tyr) c.15379G>T (p.Asp5127Tyr) c.15376G>T (p.Asp5126Tyr) c.15370G>T (p.Asp5124Tyr) c.15361G>T (p.Asp5121Tyr) c.15310G>T (p.Asp5104Tyr) c.15307G>T (p.Asp5103Tyr) c.15274G>T (p.Asp5092Tyr) c.15271G>T (p.Asp5091Tyr) c.15238G>T (p.Asp5080Tyr) c.15508G>T (p.Asp5170Tyr) c.15505G>T (p.Asp5169Tyr) c.15493G>T (p.Asp5165Tyr) c.15490G>T (p.Asp5164Tyr) c.15484G>T (p.Asp5162Tyr) c.15475G>T (p.Asp5159Tyr) c.15424G>T (p.Asp5142Tyr) c.15421G>T (p.Asp5141Tyr) c.15388G>T (p.Asp5130Tyr) c.15385G>T (p.Asp5129Tyr) c.15352G>T (p.Asp5118Tyr) c.15487G>T (p.Asp5163Tyr) c.15460G>T (p.Asp5154Tyr) c.15406G>T (p.Asp5136Tyr) c.15373G>T (p.Asp5125Tyr) c.15349G>T (p.Asp5117Tyr) c.15301G>T (p.Asp5101Tyr) c.15250G>T (p.Asp5084Tyr) | |
1 | g.19078059C>G | CA338748343 | UBR4 | c.15241G>C (p.Asp5081His) c.2362G>C (p.Asp788His) c.466G>C (p.Asp156His) n.3248G>C c.15394G>C (p.Asp5132His) c.15391G>C (p.Asp5131His) c.15379G>C (p.Asp5127His) c.15376G>C (p.Asp5126His) c.15370G>C (p.Asp5124His) c.15361G>C (p.Asp5121His) c.15310G>C (p.Asp5104His) c.15307G>C (p.Asp5103His) c.15274G>C (p.Asp5092His) c.15271G>C (p.Asp5091His) c.15238G>C (p.Asp5080His) c.15508G>C (p.Asp5170His) c.15505G>C (p.Asp5169His) c.15493G>C (p.Asp5165His) c.15490G>C (p.Asp5164His) c.15484G>C (p.Asp5162His) c.15475G>C (p.Asp5159His) c.15424G>C (p.Asp5142His) c.15421G>C (p.Asp5141His) c.15388G>C (p.Asp5130His) c.15385G>C (p.Asp5129His) c.15352G>C (p.Asp5118His) c.15487G>C (p.Asp5163His) c.15460G>C (p.Asp5154His) c.15406G>C (p.Asp5136His) c.15373G>C (p.Asp5125His) c.15349G>C (p.Asp5117His) c.15301G>C (p.Asp5101His) c.15250G>C (p.Asp5084His) | |
1 | g.19078059C>T | CA338748341 | UBR4 | c.15241G>A (p.Asp5081Asn) c.2362G>A (p.Asp788Asn) c.466G>A (p.Asp156Asn) n.3248G>A c.15394G>A (p.Asp5132Asn) c.15391G>A (p.Asp5131Asn) c.15379G>A (p.Asp5127Asn) c.15376G>A (p.Asp5126Asn) c.15370G>A (p.Asp5124Asn) c.15361G>A (p.Asp5121Asn) c.15310G>A (p.Asp5104Asn) c.15307G>A (p.Asp5103Asn) c.15274G>A (p.Asp5092Asn) c.15271G>A (p.Asp5091Asn) c.15238G>A (p.Asp5080Asn) c.15508G>A (p.Asp5170Asn) c.15505G>A (p.Asp5169Asn) c.15493G>A (p.Asp5165Asn) c.15490G>A (p.Asp5164Asn) c.15484G>A (p.Asp5162Asn) c.15475G>A (p.Asp5159Asn) c.15424G>A (p.Asp5142Asn) c.15421G>A (p.Asp5141Asn) c.15388G>A (p.Asp5130Asn) c.15385G>A (p.Asp5129Asn) c.15352G>A (p.Asp5118Asn) c.15487G>A (p.Asp5163Asn) c.15460G>A (p.Asp5154Asn) c.15406G>A (p.Asp5136Asn) c.15373G>A (p.Asp5125Asn) c.15349G>A (p.Asp5117Asn) c.15301G>A (p.Asp5101Asn) c.15250G>A (p.Asp5084Asn) | |
1 | g.19078060T>A | CA416453171 | UBR4 | c.15240A>T (p.Thr5080=) c.2361A>T (p.Thr787=) c.465A>T (p.Thr155=) n.3247A>T c.15393A>T (p.Thr5131=) c.15390A>T (p.Thr5130=) c.15378A>T (p.Thr5126=) c.15375A>T (p.Thr5125=) c.15369A>T (p.Thr5123=) c.15360A>T (p.Thr5120=) c.15309A>T (p.Thr5103=) c.15306A>T (p.Thr5102=) c.15273A>T (p.Thr5091=) c.15270A>T (p.Thr5090=) c.15237A>T (p.Thr5079=) c.15507A>T (p.Thr5169=) c.15504A>T (p.Thr5168=) c.15492A>T (p.Thr5164=) c.15489A>T (p.Thr5163=) c.15483A>T (p.Thr5161=) c.15474A>T (p.Thr5158=) c.15423A>T (p.Thr5141=) c.15420A>T (p.Thr5140=) c.15387A>T (p.Thr5129=) c.15384A>T (p.Thr5128=) c.15351A>T (p.Thr5117=) c.15486A>T (p.Thr5162=) c.15459A>T (p.Thr5153=) c.15405A>T (p.Thr5135=) c.15372A>T (p.Thr5124=) c.15348A>T (p.Thr5116=) c.15300A>T (p.Thr5100=) c.15249A>T (p.Thr5083=) | |
1 | g.19078060T>C | CA416453173 | UBR4 | c.15240A>G (p.Thr5080=) c.2361A>G (p.Thr787=) c.465A>G (p.Thr155=) n.3247A>G c.15393A>G (p.Thr5131=) c.15390A>G (p.Thr5130=) c.15378A>G (p.Thr5126=) c.15375A>G (p.Thr5125=) c.15369A>G (p.Thr5123=) c.15360A>G (p.Thr5120=) c.15309A>G (p.Thr5103=) c.15306A>G (p.Thr5102=) c.15273A>G (p.Thr5091=) c.15270A>G (p.Thr5090=) c.15237A>G (p.Thr5079=) c.15507A>G (p.Thr5169=) c.15504A>G (p.Thr5168=) c.15492A>G (p.Thr5164=) c.15489A>G (p.Thr5163=) c.15483A>G (p.Thr5161=) c.15474A>G (p.Thr5158=) c.15423A>G (p.Thr5141=) c.15420A>G (p.Thr5140=) c.15387A>G (p.Thr5129=) c.15384A>G (p.Thr5128=) c.15351A>G (p.Thr5117=) c.15486A>G (p.Thr5162=) c.15459A>G (p.Thr5153=) c.15405A>G (p.Thr5135=) c.15372A>G (p.Thr5124=) c.15348A>G (p.Thr5116=) c.15300A>G (p.Thr5100=) c.15249A>G (p.Thr5083=) | |
1 | g.19078060T>G | CA416453172 | UBR4 | c.15240A>C (p.Thr5080=) c.2361A>C (p.Thr787=) c.465A>C (p.Thr155=) n.3247A>C c.15393A>C (p.Thr5131=) c.15390A>C (p.Thr5130=) c.15378A>C (p.Thr5126=) c.15375A>C (p.Thr5125=) c.15369A>C (p.Thr5123=) c.15360A>C (p.Thr5120=) c.15309A>C (p.Thr5103=) c.15306A>C (p.Thr5102=) c.15273A>C (p.Thr5091=) c.15270A>C (p.Thr5090=) c.15237A>C (p.Thr5079=) c.15507A>C (p.Thr5169=) c.15504A>C (p.Thr5168=) c.15492A>C (p.Thr5164=) c.15489A>C (p.Thr5163=) c.15483A>C (p.Thr5161=) c.15474A>C (p.Thr5158=) c.15423A>C (p.Thr5141=) c.15420A>C (p.Thr5140=) c.15387A>C (p.Thr5129=) c.15384A>C (p.Thr5128=) c.15351A>C (p.Thr5117=) c.15486A>C (p.Thr5162=) c.15459A>C (p.Thr5153=) c.15405A>C (p.Thr5135=) c.15372A>C (p.Thr5124=) c.15348A>C (p.Thr5116=) c.15300A>C (p.Thr5100=) c.15249A>C (p.Thr5083=) | |
1 | g.19078061G>A | CA338748347 | UBR4 | c.15239C>T (p.Thr5080Ile) c.2360C>T (p.Thr787Ile) c.464C>T (p.Thr155Ile) n.3246C>T c.15392C>T (p.Thr5131Ile) c.15389C>T (p.Thr5130Ile) c.15377C>T (p.Thr5126Ile) c.15374C>T (p.Thr5125Ile) c.15368C>T (p.Thr5123Ile) c.15359C>T (p.Thr5120Ile) c.15308C>T (p.Thr5103Ile) c.15305C>T (p.Thr5102Ile) c.15272C>T (p.Thr5091Ile) c.15269C>T (p.Thr5090Ile) c.15236C>T (p.Thr5079Ile) c.15506C>T (p.Thr5169Ile) c.15503C>T (p.Thr5168Ile) c.15491C>T (p.Thr5164Ile) c.15488C>T (p.Thr5163Ile) c.15482C>T (p.Thr5161Ile) c.15473C>T (p.Thr5158Ile) c.15422C>T (p.Thr5141Ile) c.15419C>T (p.Thr5140Ile) c.15386C>T (p.Thr5129Ile) c.15383C>T (p.Thr5128Ile) c.15350C>T (p.Thr5117Ile) c.15485C>T (p.Thr5162Ile) c.15458C>T (p.Thr5153Ile) c.15404C>T (p.Thr5135Ile) c.15371C>T (p.Thr5124Ile) c.15347C>T (p.Thr5116Ile) c.15299C>T (p.Thr5100Ile) c.15248C>T (p.Thr5083Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.19078061G>C | CA338748349 | UBR4 | c.15239C>G (p.Thr5080Arg) c.2360C>G (p.Thr787Arg) c.464C>G (p.Thr155Arg) n.3246C>G c.15392C>G (p.Thr5131Arg) c.15389C>G (p.Thr5130Arg) c.15377C>G (p.Thr5126Arg) c.15374C>G (p.Thr5125Arg) c.15368C>G (p.Thr5123Arg) c.15359C>G (p.Thr5120Arg) c.15308C>G (p.Thr5103Arg) c.15305C>G (p.Thr5102Arg) c.15272C>G (p.Thr5091Arg) c.15269C>G (p.Thr5090Arg) c.15236C>G (p.Thr5079Arg) c.15506C>G (p.Thr5169Arg) c.15503C>G (p.Thr5168Arg) c.15491C>G (p.Thr5164Arg) c.15488C>G (p.Thr5163Arg) c.15482C>G (p.Thr5161Arg) c.15473C>G (p.Thr5158Arg) c.15422C>G (p.Thr5141Arg) c.15419C>G (p.Thr5140Arg) c.15386C>G (p.Thr5129Arg) c.15383C>G (p.Thr5128Arg) c.15350C>G (p.Thr5117Arg) c.15485C>G (p.Thr5162Arg) c.15458C>G (p.Thr5153Arg) c.15404C>G (p.Thr5135Arg) c.15371C>G (p.Thr5124Arg) c.15347C>G (p.Thr5116Arg) c.15299C>G (p.Thr5100Arg) c.15248C>G (p.Thr5083Arg) | |
1 | g.19078061G= | CA1156956090 | UBR4 | c.15239C= (p.Thr5080=) c.2360C= (p.Thr787=) c.464C= (p.Thr155=) n.3246C= c.15392C= (p.Thr5131=) c.15389C= (p.Thr5130=) c.15377C= (p.Thr5126=) c.15374C= (p.Thr5125=) c.15368C= (p.Thr5123=) c.15359C= (p.Thr5120=) c.15308C= (p.Thr5103=) c.15305C= (p.Thr5102=) c.15272C= (p.Thr5091=) c.15269C= (p.Thr5090=) c.15236C= (p.Thr5079=) c.15506C= (p.Thr5169=) c.15503C= (p.Thr5168=) c.15491C= (p.Thr5164=) c.15488C= (p.Thr5163=) c.15482C= (p.Thr5161=) c.15473C= (p.Thr5158=) c.15422C= (p.Thr5141=) c.15419C= (p.Thr5140=) c.15386C= (p.Thr5129=) c.15383C= (p.Thr5128=) c.15350C= (p.Thr5117=) c.15485C= (p.Thr5162=) c.15458C= (p.Thr5153=) c.15404C= (p.Thr5135=) c.15371C= (p.Thr5124=) c.15347C= (p.Thr5116=) c.15299C= (p.Thr5100=) c.15248C= (p.Thr5083=) | |
1 | g.19078061G>T | CA338748350 | UBR4 | c.15239C>A (p.Thr5080Lys) c.2360C>A (p.Thr787Lys) c.464C>A (p.Thr155Lys) n.3246C>A c.15392C>A (p.Thr5131Lys) c.15389C>A (p.Thr5130Lys) c.15377C>A (p.Thr5126Lys) c.15374C>A (p.Thr5125Lys) c.15368C>A (p.Thr5123Lys) c.15359C>A (p.Thr5120Lys) c.15308C>A (p.Thr5103Lys) c.15305C>A (p.Thr5102Lys) c.15272C>A (p.Thr5091Lys) c.15269C>A (p.Thr5090Lys) c.15236C>A (p.Thr5079Lys) c.15506C>A (p.Thr5169Lys) c.15503C>A (p.Thr5168Lys) c.15491C>A (p.Thr5164Lys) c.15488C>A (p.Thr5163Lys) c.15482C>A (p.Thr5161Lys) c.15473C>A (p.Thr5158Lys) c.15422C>A (p.Thr5141Lys) c.15419C>A (p.Thr5140Lys) c.15386C>A (p.Thr5129Lys) c.15383C>A (p.Thr5128Lys) c.15350C>A (p.Thr5117Lys) c.15485C>A (p.Thr5162Lys) c.15458C>A (p.Thr5153Lys) c.15404C>A (p.Thr5135Lys) c.15371C>A (p.Thr5124Lys) c.15347C>A (p.Thr5116Lys) c.15299C>A (p.Thr5100Lys) c.15248C>A (p.Thr5083Lys) | |
1 | g.19078062T>A | CA338748351 | UBR4 | c.15238A>T (p.Thr5080Ser) c.2359A>T (p.Thr787Ser) c.463A>T (p.Thr155Ser) n.3245A>T c.15391A>T (p.Thr5131Ser) c.15388A>T (p.Thr5130Ser) c.15376A>T (p.Thr5126Ser) c.15373A>T (p.Thr5125Ser) c.15367A>T (p.Thr5123Ser) c.15358A>T (p.Thr5120Ser) c.15307A>T (p.Thr5103Ser) c.15304A>T (p.Thr5102Ser) c.15271A>T (p.Thr5091Ser) c.15268A>T (p.Thr5090Ser) c.15235A>T (p.Thr5079Ser) c.15505A>T (p.Thr5169Ser) c.15502A>T (p.Thr5168Ser) c.15490A>T (p.Thr5164Ser) c.15487A>T (p.Thr5163Ser) c.15481A>T (p.Thr5161Ser) c.15472A>T (p.Thr5158Ser) c.15421A>T (p.Thr5141Ser) c.15418A>T (p.Thr5140Ser) c.15385A>T (p.Thr5129Ser) c.15382A>T (p.Thr5128Ser) c.15349A>T (p.Thr5117Ser) c.15484A>T (p.Thr5162Ser) c.15457A>T (p.Thr5153Ser) c.15403A>T (p.Thr5135Ser) c.15370A>T (p.Thr5124Ser) c.15346A>T (p.Thr5116Ser) c.15298A>T (p.Thr5100Ser) c.15247A>T (p.Thr5083Ser) | |
1 | g.19078062T>C | CA338748352 | UBR4 | c.15238A>G (p.Thr5080Ala) c.2359A>G (p.Thr787Ala) c.463A>G (p.Thr155Ala) n.3245A>G c.15391A>G (p.Thr5131Ala) c.15388A>G (p.Thr5130Ala) c.15376A>G (p.Thr5126Ala) c.15373A>G (p.Thr5125Ala) c.15367A>G (p.Thr5123Ala) c.15358A>G (p.Thr5120Ala) c.15307A>G (p.Thr5103Ala) c.15304A>G (p.Thr5102Ala) c.15271A>G (p.Thr5091Ala) c.15268A>G (p.Thr5090Ala) c.15235A>G (p.Thr5079Ala) c.15505A>G (p.Thr5169Ala) c.15502A>G (p.Thr5168Ala) c.15490A>G (p.Thr5164Ala) c.15487A>G (p.Thr5163Ala) c.15481A>G (p.Thr5161Ala) c.15472A>G (p.Thr5158Ala) c.15421A>G (p.Thr5141Ala) c.15418A>G (p.Thr5140Ala) c.15385A>G (p.Thr5129Ala) c.15382A>G (p.Thr5128Ala) c.15349A>G (p.Thr5117Ala) c.15484A>G (p.Thr5162Ala) c.15457A>G (p.Thr5153Ala) c.15403A>G (p.Thr5135Ala) c.15370A>G (p.Thr5124Ala) c.15346A>G (p.Thr5116Ala) c.15298A>G (p.Thr5100Ala) c.15247A>G (p.Thr5083Ala) | |
1 | g.19078062T>G | CA338748353 | UBR4 | c.15238A>C (p.Thr5080Pro) c.2359A>C (p.Thr787Pro) c.463A>C (p.Thr155Pro) n.3245A>C c.15391A>C (p.Thr5131Pro) c.15388A>C (p.Thr5130Pro) c.15376A>C (p.Thr5126Pro) c.15373A>C (p.Thr5125Pro) c.15367A>C (p.Thr5123Pro) c.15358A>C (p.Thr5120Pro) c.15307A>C (p.Thr5103Pro) c.15304A>C (p.Thr5102Pro) c.15271A>C (p.Thr5091Pro) c.15268A>C (p.Thr5090Pro) c.15235A>C (p.Thr5079Pro) c.15505A>C (p.Thr5169Pro) c.15502A>C (p.Thr5168Pro) c.15490A>C (p.Thr5164Pro) c.15487A>C (p.Thr5163Pro) c.15481A>C (p.Thr5161Pro) c.15472A>C (p.Thr5158Pro) c.15421A>C (p.Thr5141Pro) c.15418A>C (p.Thr5140Pro) c.15385A>C (p.Thr5129Pro) c.15382A>C (p.Thr5128Pro) c.15349A>C (p.Thr5117Pro) c.15484A>C (p.Thr5162Pro) c.15457A>C (p.Thr5153Pro) c.15403A>C (p.Thr5135Pro) c.15370A>C (p.Thr5124Pro) c.15346A>C (p.Thr5116Pro) c.15298A>C (p.Thr5100Pro) c.15247A>C (p.Thr5083Pro) | |
1 | g.19078063C>A | CA416453176 | UBR4 | c.15237G>T (p.Leu5079=) c.2358G>T (p.Leu786=) c.462G>T (p.Leu154=) n.3244G>T c.15390G>T (p.Leu5130=) c.15387G>T (p.Leu5129=) c.15375G>T (p.Leu5125=) c.15372G>T (p.Leu5124=) c.15366G>T (p.Leu5122=) c.15357G>T (p.Leu5119=) c.15306G>T (p.Leu5102=) c.15303G>T (p.Leu5101=) c.15270G>T (p.Leu5090=) c.15267G>T (p.Leu5089=) c.15234G>T (p.Leu5078=) c.15504G>T (p.Leu5168=) c.15501G>T (p.Leu5167=) c.15489G>T (p.Leu5163=) c.15486G>T (p.Leu5162=) c.15480G>T (p.Leu5160=) c.15471G>T (p.Leu5157=) c.15420G>T (p.Leu5140=) c.15417G>T (p.Leu5139=) c.15384G>T (p.Leu5128=) c.15381G>T (p.Leu5127=) c.15348G>T (p.Leu5116=) c.15483G>T (p.Leu5161=) c.15456G>T (p.Leu5152=) c.15402G>T (p.Leu5134=) c.15369G>T (p.Leu5123=) c.15345G>T (p.Leu5115=) c.15297G>T (p.Leu5099=) c.15246G>T (p.Leu5082=) | |
1 | g.19078063C>G | CA416453174 | UBR4 | c.15237G>C (p.Leu5079=) c.2358G>C (p.Leu786=) c.462G>C (p.Leu154=) n.3244G>C c.15390G>C (p.Leu5130=) c.15387G>C (p.Leu5129=) c.15375G>C (p.Leu5125=) c.15372G>C (p.Leu5124=) c.15366G>C (p.Leu5122=) c.15357G>C (p.Leu5119=) c.15306G>C (p.Leu5102=) c.15303G>C (p.Leu5101=) c.15270G>C (p.Leu5090=) c.15267G>C (p.Leu5089=) c.15234G>C (p.Leu5078=) c.15504G>C (p.Leu5168=) c.15501G>C (p.Leu5167=) c.15489G>C (p.Leu5163=) c.15486G>C (p.Leu5162=) c.15480G>C (p.Leu5160=) c.15471G>C (p.Leu5157=) c.15420G>C (p.Leu5140=) c.15417G>C (p.Leu5139=) c.15384G>C (p.Leu5128=) c.15381G>C (p.Leu5127=) c.15348G>C (p.Leu5116=) c.15483G>C (p.Leu5161=) c.15456G>C (p.Leu5152=) c.15402G>C (p.Leu5134=) c.15369G>C (p.Leu5123=) c.15345G>C (p.Leu5115=) c.15297G>C (p.Leu5099=) c.15246G>C (p.Leu5082=) | dbSNP |
1 | g.19078063C>T | CA416453175 | UBR4 | c.15237G>A (p.Leu5079=) c.2358G>A (p.Leu786=) c.462G>A (p.Leu154=) n.3244G>A c.15390G>A (p.Leu5130=) c.15387G>A (p.Leu5129=) c.15375G>A (p.Leu5125=) c.15372G>A (p.Leu5124=) c.15366G>A (p.Leu5122=) c.15357G>A (p.Leu5119=) c.15306G>A (p.Leu5102=) c.15303G>A (p.Leu5101=) c.15270G>A (p.Leu5090=) c.15267G>A (p.Leu5089=) c.15234G>A (p.Leu5078=) c.15504G>A (p.Leu5168=) c.15501G>A (p.Leu5167=) c.15489G>A (p.Leu5163=) c.15486G>A (p.Leu5162=) c.15480G>A (p.Leu5160=) c.15471G>A (p.Leu5157=) c.15420G>A (p.Leu5140=) c.15417G>A (p.Leu5139=) c.15384G>A (p.Leu5128=) c.15381G>A (p.Leu5127=) c.15348G>A (p.Leu5116=) c.15483G>A (p.Leu5161=) c.15456G>A (p.Leu5152=) c.15402G>A (p.Leu5134=) c.15369G>A (p.Leu5123=) c.15345G>A (p.Leu5115=) c.15297G>A (p.Leu5099=) c.15246G>A (p.Leu5082=) | gnomAD v4 |
1 | g.19078064A= | CA1146128942 | UBR4 | c.15236T= (p.Leu5079=) c.2357T= (p.Leu786=) c.461T= (p.Leu154=) n.3243T= c.15389T= (p.Leu5130=) c.15386T= (p.Leu5129=) c.15374T= (p.Leu5125=) c.15371T= (p.Leu5124=) c.15365T= (p.Leu5122=) c.15356T= (p.Leu5119=) c.15305T= (p.Leu5102=) c.15302T= (p.Leu5101=) c.15269T= (p.Leu5090=) c.15266T= (p.Leu5089=) c.15233T= (p.Leu5078=) c.15503T= (p.Leu5168=) c.15500T= (p.Leu5167=) c.15488T= (p.Leu5163=) c.15485T= (p.Leu5162=) c.15479T= (p.Leu5160=) c.15470T= (p.Leu5157=) c.15419T= (p.Leu5140=) c.15416T= (p.Leu5139=) c.15383T= (p.Leu5128=) c.15380T= (p.Leu5127=) c.15347T= (p.Leu5116=) c.15482T= (p.Leu5161=) c.15455T= (p.Leu5152=) c.15401T= (p.Leu5134=) c.15368T= (p.Leu5123=) c.15344T= (p.Leu5115=) c.15296T= (p.Leu5099=) c.15245T= (p.Leu5082=) | |
1 | g.19078064A>C | CA338748354 | UBR4 | c.15236T>G (p.Leu5079Arg) c.2357T>G (p.Leu786Arg) c.461T>G (p.Leu154Arg) n.3243T>G c.15389T>G (p.Leu5130Arg) c.15386T>G (p.Leu5129Arg) c.15374T>G (p.Leu5125Arg) c.15371T>G (p.Leu5124Arg) c.15365T>G (p.Leu5122Arg) c.15356T>G (p.Leu5119Arg) c.15305T>G (p.Leu5102Arg) c.15302T>G (p.Leu5101Arg) c.15269T>G (p.Leu5090Arg) c.15266T>G (p.Leu5089Arg) c.15233T>G (p.Leu5078Arg) c.15503T>G (p.Leu5168Arg) c.15500T>G (p.Leu5167Arg) c.15488T>G (p.Leu5163Arg) c.15485T>G (p.Leu5162Arg) c.15479T>G (p.Leu5160Arg) c.15470T>G (p.Leu5157Arg) c.15419T>G (p.Leu5140Arg) c.15416T>G (p.Leu5139Arg) c.15383T>G (p.Leu5128Arg) c.15380T>G (p.Leu5127Arg) c.15347T>G (p.Leu5116Arg) c.15482T>G (p.Leu5161Arg) c.15455T>G (p.Leu5152Arg) c.15401T>G (p.Leu5134Arg) c.15368T>G (p.Leu5123Arg) c.15344T>G (p.Leu5115Arg) c.15296T>G (p.Leu5099Arg) c.15245T>G (p.Leu5082Arg) | |
1 | g.19078064A>G | CA338748355 | UBR4 | c.15236T>C (p.Leu5079Pro) c.2357T>C (p.Leu786Pro) c.461T>C (p.Leu154Pro) n.3243T>C c.15389T>C (p.Leu5130Pro) c.15386T>C (p.Leu5129Pro) c.15374T>C (p.Leu5125Pro) c.15371T>C (p.Leu5124Pro) c.15365T>C (p.Leu5122Pro) c.15356T>C (p.Leu5119Pro) c.15305T>C (p.Leu5102Pro) c.15302T>C (p.Leu5101Pro) c.15269T>C (p.Leu5090Pro) c.15266T>C (p.Leu5089Pro) c.15233T>C (p.Leu5078Pro) c.15503T>C (p.Leu5168Pro) c.15500T>C (p.Leu5167Pro) c.15488T>C (p.Leu5163Pro) c.15485T>C (p.Leu5162Pro) c.15479T>C (p.Leu5160Pro) c.15470T>C (p.Leu5157Pro) c.15419T>C (p.Leu5140Pro) c.15416T>C (p.Leu5139Pro) c.15383T>C (p.Leu5128Pro) c.15380T>C (p.Leu5127Pro) c.15347T>C (p.Leu5116Pro) c.15482T>C (p.Leu5161Pro) c.15455T>C (p.Leu5152Pro) c.15401T>C (p.Leu5134Pro) c.15368T>C (p.Leu5123Pro) c.15344T>C (p.Leu5115Pro) c.15296T>C (p.Leu5099Pro) c.15245T>C (p.Leu5082Pro) | |
1 | g.19078064A>T | CA18791090 | UBR4 | c.15236T>A (p.Leu5079Gln) c.2357T>A (p.Leu786Gln) c.461T>A (p.Leu154Gln) n.3243T>A c.15389T>A (p.Leu5130Gln) c.15386T>A (p.Leu5129Gln) c.15374T>A (p.Leu5125Gln) c.15371T>A (p.Leu5124Gln) c.15365T>A (p.Leu5122Gln) c.15356T>A (p.Leu5119Gln) c.15305T>A (p.Leu5102Gln) c.15302T>A (p.Leu5101Gln) c.15269T>A (p.Leu5090Gln) c.15266T>A (p.Leu5089Gln) c.15233T>A (p.Leu5078Gln) c.15503T>A (p.Leu5168Gln) c.15500T>A (p.Leu5167Gln) c.15488T>A (p.Leu5163Gln) c.15485T>A (p.Leu5162Gln) c.15479T>A (p.Leu5160Gln) c.15470T>A (p.Leu5157Gln) c.15419T>A (p.Leu5140Gln) c.15416T>A (p.Leu5139Gln) c.15383T>A (p.Leu5128Gln) c.15380T>A (p.Leu5127Gln) c.15347T>A (p.Leu5116Gln) c.15482T>A (p.Leu5161Gln) c.15455T>A (p.Leu5152Gln) c.15401T>A (p.Leu5134Gln) c.15368T>A (p.Leu5123Gln) c.15344T>A (p.Leu5115Gln) c.15296T>A (p.Leu5099Gln) c.15245T>A (p.Leu5082Gln) | dbSNP |
1 | g.19078065G>A | CA416453177 | UBR4 | c.15235C>T (p.Leu5079=) c.2356C>T (p.Leu786=) c.460C>T (p.Leu154=) n.3242C>T c.15388C>T (p.Leu5130=) c.15385C>T (p.Leu5129=) c.15373C>T (p.Leu5125=) c.15370C>T (p.Leu5124=) c.15364C>T (p.Leu5122=) c.15355C>T (p.Leu5119=) c.15304C>T (p.Leu5102=) c.15301C>T (p.Leu5101=) c.15268C>T (p.Leu5090=) c.15265C>T (p.Leu5089=) c.15232C>T (p.Leu5078=) c.15502C>T (p.Leu5168=) c.15499C>T (p.Leu5167=) c.15487C>T (p.Leu5163=) c.15484C>T (p.Leu5162=) c.15478C>T (p.Leu5160=) c.15469C>T (p.Leu5157=) c.15418C>T (p.Leu5140=) c.15415C>T (p.Leu5139=) c.15382C>T (p.Leu5128=) c.15379C>T (p.Leu5127=) c.15346C>T (p.Leu5116=) c.15481C>T (p.Leu5161=) c.15454C>T (p.Leu5152=) c.15400C>T (p.Leu5134=) c.15367C>T (p.Leu5123=) c.15343C>T (p.Leu5115=) c.15295C>T (p.Leu5099=) c.15244C>T (p.Leu5082=) | |
1 | g.19078065G>C | CA338748357 | UBR4 | c.15235C>G (p.Leu5079Val) c.2356C>G (p.Leu786Val) c.460C>G (p.Leu154Val) n.3242C>G c.15388C>G (p.Leu5130Val) c.15385C>G (p.Leu5129Val) c.15373C>G (p.Leu5125Val) c.15370C>G (p.Leu5124Val) c.15364C>G (p.Leu5122Val) c.15355C>G (p.Leu5119Val) c.15304C>G (p.Leu5102Val) c.15301C>G (p.Leu5101Val) c.15268C>G (p.Leu5090Val) c.15265C>G (p.Leu5089Val) c.15232C>G (p.Leu5078Val) c.15502C>G (p.Leu5168Val) c.15499C>G (p.Leu5167Val) c.15487C>G (p.Leu5163Val) c.15484C>G (p.Leu5162Val) c.15478C>G (p.Leu5160Val) c.15469C>G (p.Leu5157Val) c.15418C>G (p.Leu5140Val) c.15415C>G (p.Leu5139Val) c.15382C>G (p.Leu5128Val) c.15379C>G (p.Leu5127Val) c.15346C>G (p.Leu5116Val) c.15481C>G (p.Leu5161Val) c.15454C>G (p.Leu5152Val) c.15400C>G (p.Leu5134Val) c.15367C>G (p.Leu5123Val) c.15343C>G (p.Leu5115Val) c.15295C>G (p.Leu5099Val) c.15244C>G (p.Leu5082Val) | |
1 | g.19078065G>T | CA338748358 | UBR4 | c.15235C>A (p.Leu5079Met) c.2356C>A (p.Leu786Met) c.460C>A (p.Leu154Met) n.3242C>A c.15388C>A (p.Leu5130Met) c.15385C>A (p.Leu5129Met) c.15373C>A (p.Leu5125Met) c.15370C>A (p.Leu5124Met) c.15364C>A (p.Leu5122Met) c.15355C>A (p.Leu5119Met) c.15304C>A (p.Leu5102Met) c.15301C>A (p.Leu5101Met) c.15268C>A (p.Leu5090Met) c.15265C>A (p.Leu5089Met) c.15232C>A (p.Leu5078Met) c.15502C>A (p.Leu5168Met) c.15499C>A (p.Leu5167Met) c.15487C>A (p.Leu5163Met) c.15484C>A (p.Leu5162Met) c.15478C>A (p.Leu5160Met) c.15469C>A (p.Leu5157Met) c.15418C>A (p.Leu5140Met) c.15415C>A (p.Leu5139Met) c.15382C>A (p.Leu5128Met) c.15379C>A (p.Leu5127Met) c.15346C>A (p.Leu5116Met) c.15481C>A (p.Leu5161Met) c.15454C>A (p.Leu5152Met) c.15400C>A (p.Leu5134Met) c.15367C>A (p.Leu5123Met) c.15343C>A (p.Leu5115Met) c.15295C>A (p.Leu5099Met) c.15244C>A (p.Leu5082Met) | |
1 | g.19078066C>A | CA338748361 | UBR4 | c.15234G>T (p.Arg5078Ser) c.2355G>T (p.Arg785Ser) c.459G>T (p.Arg153Ser) n.3241G>T c.15387G>T (p.Arg5129Ser) c.15384G>T (p.Arg5128Ser) c.15372G>T (p.Arg5124Ser) c.15369G>T (p.Arg5123Ser) c.15363G>T (p.Arg5121Ser) c.15354G>T (p.Arg5118Ser) c.15303G>T (p.Arg5101Ser) c.15300G>T (p.Arg5100Ser) c.15267G>T (p.Arg5089Ser) c.15264G>T (p.Arg5088Ser) c.15231G>T (p.Arg5077Ser) c.15501G>T (p.Arg5167Ser) c.15498G>T (p.Arg5166Ser) c.15486G>T (p.Arg5162Ser) c.15483G>T (p.Arg5161Ser) c.15477G>T (p.Arg5159Ser) c.15468G>T (p.Arg5156Ser) c.15417G>T (p.Arg5139Ser) c.15414G>T (p.Arg5138Ser) c.15381G>T (p.Arg5127Ser) c.15378G>T (p.Arg5126Ser) c.15345G>T (p.Arg5115Ser) c.15480G>T (p.Arg5160Ser) c.15453G>T (p.Arg5151Ser) c.15399G>T (p.Arg5133Ser) c.15366G>T (p.Arg5122Ser) c.15342G>T (p.Arg5114Ser) c.15294G>T (p.Arg5098Ser) c.15243G>T (p.Arg5081Ser) | |
1 | g.19078066C>G | CA338748362 | UBR4 | c.15234G>C (p.Arg5078Ser) c.2355G>C (p.Arg785Ser) c.459G>C (p.Arg153Ser) n.3241G>C c.15387G>C (p.Arg5129Ser) c.15384G>C (p.Arg5128Ser) c.15372G>C (p.Arg5124Ser) c.15369G>C (p.Arg5123Ser) c.15363G>C (p.Arg5121Ser) c.15354G>C (p.Arg5118Ser) c.15303G>C (p.Arg5101Ser) c.15300G>C (p.Arg5100Ser) c.15267G>C (p.Arg5089Ser) c.15264G>C (p.Arg5088Ser) c.15231G>C (p.Arg5077Ser) c.15501G>C (p.Arg5167Ser) c.15498G>C (p.Arg5166Ser) c.15486G>C (p.Arg5162Ser) c.15483G>C (p.Arg5161Ser) c.15477G>C (p.Arg5159Ser) c.15468G>C (p.Arg5156Ser) c.15417G>C (p.Arg5139Ser) c.15414G>C (p.Arg5138Ser) c.15381G>C (p.Arg5127Ser) c.15378G>C (p.Arg5126Ser) c.15345G>C (p.Arg5115Ser) c.15480G>C (p.Arg5160Ser) c.15453G>C (p.Arg5151Ser) c.15399G>C (p.Arg5133Ser) c.15366G>C (p.Arg5122Ser) c.15342G>C (p.Arg5114Ser) c.15294G>C (p.Arg5098Ser) c.15243G>C (p.Arg5081Ser) | |
1 | g.19078066C>T | CA416453178 | UBR4 | c.15234G>A (p.Arg5078=) c.2355G>A (p.Arg785=) c.459G>A (p.Arg153=) n.3241G>A c.15387G>A (p.Arg5129=) c.15384G>A (p.Arg5128=) c.15372G>A (p.Arg5124=) c.15369G>A (p.Arg5123=) c.15363G>A (p.Arg5121=) c.15354G>A (p.Arg5118=) c.15303G>A (p.Arg5101=) c.15300G>A (p.Arg5100=) c.15267G>A (p.Arg5089=) c.15264G>A (p.Arg5088=) c.15231G>A (p.Arg5077=) c.15501G>A (p.Arg5167=) c.15498G>A (p.Arg5166=) c.15486G>A (p.Arg5162=) c.15483G>A (p.Arg5161=) c.15477G>A (p.Arg5159=) c.15468G>A (p.Arg5156=) c.15417G>A (p.Arg5139=) c.15414G>A (p.Arg5138=) c.15381G>A (p.Arg5127=) c.15378G>A (p.Arg5126=) c.15345G>A (p.Arg5115=) c.15480G>A (p.Arg5160=) c.15453G>A (p.Arg5151=) c.15399G>A (p.Arg5133=) c.15366G>A (p.Arg5122=) c.15342G>A (p.Arg5114=) c.15294G>A (p.Arg5098=) c.15243G>A (p.Arg5081=) | |
1 | g.19078067C>A | CA338748366 | UBR4 | c.15234-1G>T (n.15234-1G>T) c.2355-1G>T (n.2355-1G>T) c.459-1G>T (n.459-1G>T) n.3240G>T c.15387-1G>T (n.15387-1G>T) c.15384-1G>T (n.15384-1G>T) c.15372-1G>T (n.15372-1G>T) c.15369-1G>T (n.15369-1G>T) c.15363-1G>T (n.15363-1G>T) c.15354-1G>T (n.15354-1G>T) c.15303-1G>T (n.15303-1G>T) c.15300-1G>T (n.15300-1G>T) c.15267-1G>T (n.15267-1G>T) c.15264-1G>T (n.15264-1G>T) c.15231-1G>T (n.15231-1G>T) c.15501-1G>T (n.15501-1G>T) c.15498-1G>T (n.15498-1G>T) c.15486-1G>T (n.15486-1G>T) c.15483-1G>T (n.15483-1G>T) c.15477-1G>T (n.15477-1G>T) c.15468-1G>T (n.15468-1G>T) c.15417-1G>T (n.15417-1G>T) c.15414-1G>T (n.15414-1G>T) c.15381-1G>T (n.15381-1G>T) c.15378-1G>T (n.15378-1G>T) c.15345-1G>T (n.15345-1G>T) c.15480-1G>T (n.15480-1G>T) c.15453-1G>T (n.15453-1G>T) c.15399-1G>T (n.15399-1G>T) c.15366-1G>T (n.15366-1G>T) c.15342-1G>T (n.15342-1G>T) c.15294-1G>T (n.15294-1G>T) c.15243-1G>T (n.15243-1G>T) | |
1 | g.19078067C>G | CA338748368 | UBR4 | c.15234-1G>C (n.15234-1G>C) c.2355-1G>C (n.2355-1G>C) c.459-1G>C (n.459-1G>C) n.3240G>C c.15387-1G>C (n.15387-1G>C) c.15384-1G>C (n.15384-1G>C) c.15372-1G>C (n.15372-1G>C) c.15369-1G>C (n.15369-1G>C) c.15363-1G>C (n.15363-1G>C) c.15354-1G>C (n.15354-1G>C) c.15303-1G>C (n.15303-1G>C) c.15300-1G>C (n.15300-1G>C) c.15267-1G>C (n.15267-1G>C) c.15264-1G>C (n.15264-1G>C) c.15231-1G>C (n.15231-1G>C) c.15501-1G>C (n.15501-1G>C) c.15498-1G>C (n.15498-1G>C) c.15486-1G>C (n.15486-1G>C) c.15483-1G>C (n.15483-1G>C) c.15477-1G>C (n.15477-1G>C) c.15468-1G>C (n.15468-1G>C) c.15417-1G>C (n.15417-1G>C) c.15414-1G>C (n.15414-1G>C) c.15381-1G>C (n.15381-1G>C) c.15378-1G>C (n.15378-1G>C) c.15345-1G>C (n.15345-1G>C) c.15480-1G>C (n.15480-1G>C) c.15453-1G>C (n.15453-1G>C) c.15399-1G>C (n.15399-1G>C) c.15366-1G>C (n.15366-1G>C) c.15342-1G>C (n.15342-1G>C) c.15294-1G>C (n.15294-1G>C) c.15243-1G>C (n.15243-1G>C) | |
1 | g.19078067C>T | CA338748364 | UBR4 | c.15234-1G>A (n.15234-1G>A) c.2355-1G>A (n.2355-1G>A) c.459-1G>A (n.459-1G>A) n.3240G>A c.15387-1G>A (n.15387-1G>A) c.15384-1G>A (n.15384-1G>A) c.15372-1G>A (n.15372-1G>A) c.15369-1G>A (n.15369-1G>A) c.15363-1G>A (n.15363-1G>A) c.15354-1G>A (n.15354-1G>A) c.15303-1G>A (n.15303-1G>A) c.15300-1G>A (n.15300-1G>A) c.15267-1G>A (n.15267-1G>A) c.15264-1G>A (n.15264-1G>A) c.15231-1G>A (n.15231-1G>A) c.15501-1G>A (n.15501-1G>A) c.15498-1G>A (n.15498-1G>A) c.15486-1G>A (n.15486-1G>A) c.15483-1G>A (n.15483-1G>A) c.15477-1G>A (n.15477-1G>A) c.15468-1G>A (n.15468-1G>A) c.15417-1G>A (n.15417-1G>A) c.15414-1G>A (n.15414-1G>A) c.15381-1G>A (n.15381-1G>A) c.15378-1G>A (n.15378-1G>A) c.15345-1G>A (n.15345-1G>A) c.15480-1G>A (n.15480-1G>A) c.15453-1G>A (n.15453-1G>A) c.15399-1G>A (n.15399-1G>A) c.15366-1G>A (n.15366-1G>A) c.15342-1G>A (n.15342-1G>A) c.15294-1G>A (n.15294-1G>A) c.15243-1G>A (n.15243-1G>A) | |
1 | g.19078068T>A | CA338748370 | UBR4 | c.15234-2A>T (n.15234-2A>T) c.2355-2A>T (n.2355-2A>T) c.459-2A>T (n.459-2A>T) n.3239A>T c.15387-2A>T (n.15387-2A>T) c.15384-2A>T (n.15384-2A>T) c.15372-2A>T (n.15372-2A>T) c.15369-2A>T (n.15369-2A>T) c.15363-2A>T (n.15363-2A>T) c.15354-2A>T (n.15354-2A>T) c.15303-2A>T (n.15303-2A>T) c.15300-2A>T (n.15300-2A>T) c.15267-2A>T (n.15267-2A>T) c.15264-2A>T (n.15264-2A>T) c.15231-2A>T (n.15231-2A>T) c.15501-2A>T (n.15501-2A>T) c.15498-2A>T (n.15498-2A>T) c.15486-2A>T (n.15486-2A>T) c.15483-2A>T (n.15483-2A>T) c.15477-2A>T (n.15477-2A>T) c.15468-2A>T (n.15468-2A>T) c.15417-2A>T (n.15417-2A>T) c.15414-2A>T (n.15414-2A>T) c.15381-2A>T (n.15381-2A>T) c.15378-2A>T (n.15378-2A>T) c.15345-2A>T (n.15345-2A>T) c.15480-2A>T (n.15480-2A>T) c.15453-2A>T (n.15453-2A>T) c.15399-2A>T (n.15399-2A>T) c.15366-2A>T (n.15366-2A>T) c.15342-2A>T (n.15342-2A>T) c.15294-2A>T (n.15294-2A>T) c.15243-2A>T (n.15243-2A>T) | |
1 | g.19078068T>C | CA338748372 | UBR4 | c.15234-2A>G (n.15234-2A>G) c.2355-2A>G (n.2355-2A>G) c.459-2A>G (n.459-2A>G) n.3239A>G c.15387-2A>G (n.15387-2A>G) c.15384-2A>G (n.15384-2A>G) c.15372-2A>G (n.15372-2A>G) c.15369-2A>G (n.15369-2A>G) c.15363-2A>G (n.15363-2A>G) c.15354-2A>G (n.15354-2A>G) c.15303-2A>G (n.15303-2A>G) c.15300-2A>G (n.15300-2A>G) c.15267-2A>G (n.15267-2A>G) c.15264-2A>G (n.15264-2A>G) c.15231-2A>G (n.15231-2A>G) c.15501-2A>G (n.15501-2A>G) c.15498-2A>G (n.15498-2A>G) c.15486-2A>G (n.15486-2A>G) c.15483-2A>G (n.15483-2A>G) c.15477-2A>G (n.15477-2A>G) c.15468-2A>G (n.15468-2A>G) c.15417-2A>G (n.15417-2A>G) c.15414-2A>G (n.15414-2A>G) c.15381-2A>G (n.15381-2A>G) c.15378-2A>G (n.15378-2A>G) c.15345-2A>G (n.15345-2A>G) c.15480-2A>G (n.15480-2A>G) c.15453-2A>G (n.15453-2A>G) c.15399-2A>G (n.15399-2A>G) c.15366-2A>G (n.15366-2A>G) c.15342-2A>G (n.15342-2A>G) c.15294-2A>G (n.15294-2A>G) c.15243-2A>G (n.15243-2A>G) | |
1 | g.19078068T>G | CA338748374 | UBR4 | c.15234-2A>C (n.15234-2A>C) c.2355-2A>C (n.2355-2A>C) c.459-2A>C (n.459-2A>C) n.3239A>C c.15387-2A>C (n.15387-2A>C) c.15384-2A>C (n.15384-2A>C) c.15372-2A>C (n.15372-2A>C) c.15369-2A>C (n.15369-2A>C) c.15363-2A>C (n.15363-2A>C) c.15354-2A>C (n.15354-2A>C) c.15303-2A>C (n.15303-2A>C) c.15300-2A>C (n.15300-2A>C) c.15267-2A>C (n.15267-2A>C) c.15264-2A>C (n.15264-2A>C) c.15231-2A>C (n.15231-2A>C) c.15501-2A>C (n.15501-2A>C) c.15498-2A>C (n.15498-2A>C) c.15486-2A>C (n.15486-2A>C) c.15483-2A>C (n.15483-2A>C) c.15477-2A>C (n.15477-2A>C) c.15468-2A>C (n.15468-2A>C) c.15417-2A>C (n.15417-2A>C) c.15414-2A>C (n.15414-2A>C) c.15381-2A>C (n.15381-2A>C) c.15378-2A>C (n.15378-2A>C) c.15345-2A>C (n.15345-2A>C) c.15480-2A>C (n.15480-2A>C) c.15453-2A>C (n.15453-2A>C) c.15399-2A>C (n.15399-2A>C) c.15366-2A>C (n.15366-2A>C) c.15342-2A>C (n.15342-2A>C) c.15294-2A>C (n.15294-2A>C) c.15243-2A>C (n.15243-2A>C) | |
1 | g.19078070del | CA2742695865 | UBR4 | c.15234-3del (n.15234-3del) c.2355-3del (n.2355-3del) c.459-3del (n.459-3del) n.3238del c.15387-3del (n.15387-3del) c.15384-3del (n.15384-3del) c.15372-3del (n.15372-3del) c.15369-3del (n.15369-3del) c.15363-3del (n.15363-3del) c.15354-3del (n.15354-3del) c.15303-3del (n.15303-3del) c.15300-3del (n.15300-3del) c.15267-3del (n.15267-3del) c.15264-3del (n.15264-3del) c.15231-3del (n.15231-3del) c.15501-3del (n.15501-3del) c.15498-3del (n.15498-3del) c.15486-3del (n.15486-3del) c.15483-3del (n.15483-3del) c.15477-3del (n.15477-3del) c.15468-3del (n.15468-3del) c.15417-3del (n.15417-3del) c.15414-3del (n.15414-3del) c.15381-3del (n.15381-3del) c.15378-3del (n.15378-3del) c.15345-3del (n.15345-3del) c.15480-3del (n.15480-3del) c.15453-3del (n.15453-3del) c.15399-3del (n.15399-3del) c.15366-3del (n.15366-3del) c.15342-3del (n.15342-3del) c.15294-3del (n.15294-3del) c.15243-3del (n.15243-3del) | |
1 | g.19078070G>A | CA647926 | UBR4 | c.15234-4C>T (n.15234-4C>T) c.2355-4C>T (n.2355-4C>T) c.459-4C>T (n.459-4C>T) n.3237C>T c.15387-4C>T (n.15387-4C>T) c.15384-4C>T (n.15384-4C>T) c.15372-4C>T (n.15372-4C>T) c.15369-4C>T (n.15369-4C>T) c.15363-4C>T (n.15363-4C>T) c.15354-4C>T (n.15354-4C>T) c.15303-4C>T (n.15303-4C>T) c.15300-4C>T (n.15300-4C>T) c.15267-4C>T (n.15267-4C>T) c.15264-4C>T (n.15264-4C>T) c.15231-4C>T (n.15231-4C>T) c.15501-4C>T (n.15501-4C>T) c.15498-4C>T (n.15498-4C>T) c.15486-4C>T (n.15486-4C>T) c.15483-4C>T (n.15483-4C>T) c.15477-4C>T (n.15477-4C>T) c.15468-4C>T (n.15468-4C>T) c.15417-4C>T (n.15417-4C>T) c.15414-4C>T (n.15414-4C>T) c.15381-4C>T (n.15381-4C>T) c.15378-4C>T (n.15378-4C>T) c.15345-4C>T (n.15345-4C>T) c.15480-4C>T (n.15480-4C>T) c.15453-4C>T (n.15453-4C>T) c.15399-4C>T (n.15399-4C>T) c.15366-4C>T (n.15366-4C>T) c.15342-4C>T (n.15342-4C>T) c.15294-4C>T (n.15294-4C>T) c.15243-4C>T (n.15243-4C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.19078070G= | CA1156956091 | UBR4 | c.15234-4C= (n.15234-4C=) c.2355-4C= (n.2355-4C=) c.459-4C= (n.459-4C=) n.3237C= c.15387-4C= (n.15387-4C=) c.15384-4C= (n.15384-4C=) c.15372-4C= (n.15372-4C=) c.15369-4C= (n.15369-4C=) c.15363-4C= (n.15363-4C=) c.15354-4C= (n.15354-4C=) c.15303-4C= (n.15303-4C=) c.15300-4C= (n.15300-4C=) c.15267-4C= (n.15267-4C=) c.15264-4C= (n.15264-4C=) c.15231-4C= (n.15231-4C=) c.15501-4C= (n.15501-4C=) c.15498-4C= (n.15498-4C=) c.15486-4C= (n.15486-4C=) c.15483-4C= (n.15483-4C=) c.15477-4C= (n.15477-4C=) c.15468-4C= (n.15468-4C=) c.15417-4C= (n.15417-4C=) c.15414-4C= (n.15414-4C=) c.15381-4C= (n.15381-4C=) c.15378-4C= (n.15378-4C=) c.15345-4C= (n.15345-4C=) c.15480-4C= (n.15480-4C=) c.15453-4C= (n.15453-4C=) c.15399-4C= (n.15399-4C=) c.15366-4C= (n.15366-4C=) c.15342-4C= (n.15342-4C=) c.15294-4C= (n.15294-4C=) c.15243-4C= (n.15243-4C=) | |
1 | g.19078075G>A | CA2581647258 | UBR4 | c.15234-9C>T (n.15234-9C>T) c.2355-9C>T (n.2355-9C>T) c.459-9C>T (n.459-9C>T) n.3232C>T c.15387-9C>T (n.15387-9C>T) c.15384-9C>T (n.15384-9C>T) c.15372-9C>T (n.15372-9C>T) c.15369-9C>T (n.15369-9C>T) c.15363-9C>T (n.15363-9C>T) c.15354-9C>T (n.15354-9C>T) c.15303-9C>T (n.15303-9C>T) c.15300-9C>T (n.15300-9C>T) c.15267-9C>T (n.15267-9C>T) c.15264-9C>T (n.15264-9C>T) c.15231-9C>T (n.15231-9C>T) c.15501-9C>T (n.15501-9C>T) c.15498-9C>T (n.15498-9C>T) c.15486-9C>T (n.15486-9C>T) c.15483-9C>T (n.15483-9C>T) c.15477-9C>T (n.15477-9C>T) c.15468-9C>T (n.15468-9C>T) c.15417-9C>T (n.15417-9C>T) c.15414-9C>T (n.15414-9C>T) c.15381-9C>T (n.15381-9C>T) c.15378-9C>T (n.15378-9C>T) c.15345-9C>T (n.15345-9C>T) c.15480-9C>T (n.15480-9C>T) c.15453-9C>T (n.15453-9C>T) c.15399-9C>T (n.15399-9C>T) c.15366-9C>T (n.15366-9C>T) c.15342-9C>T (n.15342-9C>T) c.15294-9C>T (n.15294-9C>T) c.15243-9C>T (n.15243-9C>T) | |
1 | g.19078075G>C | CA647927 | UBR4 | c.15234-9C>G (n.15234-9C>G) c.2355-9C>G (n.2355-9C>G) c.459-9C>G (n.459-9C>G) n.3232C>G c.15387-9C>G (n.15387-9C>G) c.15384-9C>G (n.15384-9C>G) c.15372-9C>G (n.15372-9C>G) c.15369-9C>G (n.15369-9C>G) c.15363-9C>G (n.15363-9C>G) c.15354-9C>G (n.15354-9C>G) c.15303-9C>G (n.15303-9C>G) c.15300-9C>G (n.15300-9C>G) c.15267-9C>G (n.15267-9C>G) c.15264-9C>G (n.15264-9C>G) c.15231-9C>G (n.15231-9C>G) c.15501-9C>G (n.15501-9C>G) c.15498-9C>G (n.15498-9C>G) c.15486-9C>G (n.15486-9C>G) c.15483-9C>G (n.15483-9C>G) c.15477-9C>G (n.15477-9C>G) c.15468-9C>G (n.15468-9C>G) c.15417-9C>G (n.15417-9C>G) c.15414-9C>G (n.15414-9C>G) c.15381-9C>G (n.15381-9C>G) c.15378-9C>G (n.15378-9C>G) c.15345-9C>G (n.15345-9C>G) c.15480-9C>G (n.15480-9C>G) c.15453-9C>G (n.15453-9C>G) c.15399-9C>G (n.15399-9C>G) c.15366-9C>G (n.15366-9C>G) c.15342-9C>G (n.15342-9C>G) c.15294-9C>G (n.15294-9C>G) c.15243-9C>G (n.15243-9C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.19078075G= | CA1142781327 | UBR4 | c.15234-9C= (n.15234-9C=) c.2355-9C= (n.2355-9C=) c.459-9C= (n.459-9C=) n.3232C= c.15387-9C= (n.15387-9C=) c.15384-9C= (n.15384-9C=) c.15372-9C= (n.15372-9C=) c.15369-9C= (n.15369-9C=) c.15363-9C= (n.15363-9C=) c.15354-9C= (n.15354-9C=) c.15303-9C= (n.15303-9C=) c.15300-9C= (n.15300-9C=) c.15267-9C= (n.15267-9C=) c.15264-9C= (n.15264-9C=) c.15231-9C= (n.15231-9C=) c.15501-9C= (n.15501-9C=) c.15498-9C= (n.15498-9C=) c.15486-9C= (n.15486-9C=) c.15483-9C= (n.15483-9C=) c.15477-9C= (n.15477-9C=) c.15468-9C= (n.15468-9C=) c.15417-9C= (n.15417-9C=) c.15414-9C= (n.15414-9C=) c.15381-9C= (n.15381-9C=) c.15378-9C= (n.15378-9C=) c.15345-9C= (n.15345-9C=) c.15480-9C= (n.15480-9C=) c.15453-9C= (n.15453-9C=) c.15399-9C= (n.15399-9C=) c.15366-9C= (n.15366-9C=) c.15342-9C= (n.15342-9C=) c.15294-9C= (n.15294-9C=) c.15243-9C= (n.15243-9C=) | |
1 | g.19078075G>T | CA2581647259 | UBR4 | c.15234-9C>A (n.15234-9C>A) c.2355-9C>A (n.2355-9C>A) c.459-9C>A (n.459-9C>A) n.3232C>A c.15387-9C>A (n.15387-9C>A) c.15384-9C>A (n.15384-9C>A) c.15372-9C>A (n.15372-9C>A) c.15369-9C>A (n.15369-9C>A) c.15363-9C>A (n.15363-9C>A) c.15354-9C>A (n.15354-9C>A) c.15303-9C>A (n.15303-9C>A) c.15300-9C>A (n.15300-9C>A) c.15267-9C>A (n.15267-9C>A) c.15264-9C>A (n.15264-9C>A) c.15231-9C>A (n.15231-9C>A) c.15501-9C>A (n.15501-9C>A) c.15498-9C>A (n.15498-9C>A) c.15486-9C>A (n.15486-9C>A) c.15483-9C>A (n.15483-9C>A) c.15477-9C>A (n.15477-9C>A) c.15468-9C>A (n.15468-9C>A) c.15417-9C>A (n.15417-9C>A) c.15414-9C>A (n.15414-9C>A) c.15381-9C>A (n.15381-9C>A) c.15378-9C>A (n.15378-9C>A) c.15345-9C>A (n.15345-9C>A) c.15480-9C>A (n.15480-9C>A) c.15453-9C>A (n.15453-9C>A) c.15399-9C>A (n.15399-9C>A) c.15366-9C>A (n.15366-9C>A) c.15342-9C>A (n.15342-9C>A) c.15294-9C>A (n.15294-9C>A) c.15243-9C>A (n.15243-9C>A) | |
1 | g.19078080T>C | CA2574241830 | UBR4 | c.15234-14A>G (n.15234-14A>G) c.2355-14A>G (n.2355-14A>G) c.459-14A>G (n.459-14A>G) n.3227A>G c.15387-14A>G (n.15387-14A>G) c.15384-14A>G (n.15384-14A>G) c.15372-14A>G (n.15372-14A>G) c.15369-14A>G (n.15369-14A>G) c.15363-14A>G (n.15363-14A>G) c.15354-14A>G (n.15354-14A>G) c.15303-14A>G (n.15303-14A>G) c.15300-14A>G (n.15300-14A>G) c.15267-14A>G (n.15267-14A>G) c.15264-14A>G (n.15264-14A>G) c.15231-14A>G (n.15231-14A>G) c.15501-14A>G (n.15501-14A>G) c.15498-14A>G (n.15498-14A>G) c.15486-14A>G (n.15486-14A>G) c.15483-14A>G (n.15483-14A>G) c.15477-14A>G (n.15477-14A>G) c.15468-14A>G (n.15468-14A>G) c.15417-14A>G (n.15417-14A>G) c.15414-14A>G (n.15414-14A>G) c.15381-14A>G (n.15381-14A>G) c.15378-14A>G (n.15378-14A>G) c.15345-14A>G (n.15345-14A>G) c.15480-14A>G (n.15480-14A>G) c.15453-14A>G (n.15453-14A>G) c.15399-14A>G (n.15399-14A>G) c.15366-14A>G (n.15366-14A>G) c.15342-14A>G (n.15342-14A>G) c.15294-14A>G (n.15294-14A>G) c.15243-14A>G (n.15243-14A>G) | |
1 | g.19078081C>G | CA2643751411 | UBR4 | c.15234-15G>C (n.15234-15G>C) c.2355-15G>C (n.2355-15G>C) c.459-15G>C (n.459-15G>C) n.3226G>C c.15387-15G>C (n.15387-15G>C) c.15384-15G>C (n.15384-15G>C) c.15372-15G>C (n.15372-15G>C) c.15369-15G>C (n.15369-15G>C) c.15363-15G>C (n.15363-15G>C) c.15354-15G>C (n.15354-15G>C) c.15303-15G>C (n.15303-15G>C) c.15300-15G>C (n.15300-15G>C) c.15267-15G>C (n.15267-15G>C) c.15264-15G>C (n.15264-15G>C) c.15231-15G>C (n.15231-15G>C) c.15501-15G>C (n.15501-15G>C) c.15498-15G>C (n.15498-15G>C) c.15486-15G>C (n.15486-15G>C) c.15483-15G>C (n.15483-15G>C) c.15477-15G>C (n.15477-15G>C) c.15468-15G>C (n.15468-15G>C) c.15417-15G>C (n.15417-15G>C) c.15414-15G>C (n.15414-15G>C) c.15381-15G>C (n.15381-15G>C) c.15378-15G>C (n.15378-15G>C) c.15345-15G>C (n.15345-15G>C) c.15480-15G>C (n.15480-15G>C) c.15453-15G>C (n.15453-15G>C) c.15399-15G>C (n.15399-15G>C) c.15366-15G>C (n.15366-15G>C) c.15342-15G>C (n.15342-15G>C) c.15294-15G>C (n.15294-15G>C) c.15243-15G>C (n.15243-15G>C) | gnomAD v4 |
1 | g.19078082C= | CA1156956092 | UBR4 | c.15234-16G= (n.15234-16G=) c.2355-16G= (n.2355-16G=) c.459-16G= (n.459-16G=) n.3225G= c.15387-16G= (n.15387-16G=) c.15384-16G= (n.15384-16G=) c.15372-16G= (n.15372-16G=) c.15369-16G= (n.15369-16G=) c.15363-16G= (n.15363-16G=) c.15354-16G= (n.15354-16G=) c.15303-16G= (n.15303-16G=) c.15300-16G= (n.15300-16G=) c.15267-16G= (n.15267-16G=) c.15264-16G= (n.15264-16G=) c.15231-16G= (n.15231-16G=) c.15501-16G= (n.15501-16G=) c.15498-16G= (n.15498-16G=) c.15486-16G= (n.15486-16G=) c.15483-16G= (n.15483-16G=) c.15477-16G= (n.15477-16G=) c.15468-16G= (n.15468-16G=) c.15417-16G= (n.15417-16G=) c.15414-16G= (n.15414-16G=) c.15381-16G= (n.15381-16G=) c.15378-16G= (n.15378-16G=) c.15345-16G= (n.15345-16G=) c.15480-16G= (n.15480-16G=) c.15453-16G= (n.15453-16G=) c.15399-16G= (n.15399-16G=) c.15366-16G= (n.15366-16G=) c.15342-16G= (n.15342-16G=) c.15294-16G= (n.15294-16G=) c.15243-16G= (n.15243-16G=) | |
1 | g.19078082C>T | CA521500021 | UBR4 | c.15234-16G>A (n.15234-16G>A) c.2355-16G>A (n.2355-16G>A) c.459-16G>A (n.459-16G>A) n.3225G>A c.15387-16G>A (n.15387-16G>A) c.15384-16G>A (n.15384-16G>A) c.15372-16G>A (n.15372-16G>A) c.15369-16G>A (n.15369-16G>A) c.15363-16G>A (n.15363-16G>A) c.15354-16G>A (n.15354-16G>A) c.15303-16G>A (n.15303-16G>A) c.15300-16G>A (n.15300-16G>A) c.15267-16G>A (n.15267-16G>A) c.15264-16G>A (n.15264-16G>A) c.15231-16G>A (n.15231-16G>A) c.15501-16G>A (n.15501-16G>A) c.15498-16G>A (n.15498-16G>A) c.15486-16G>A (n.15486-16G>A) c.15483-16G>A (n.15483-16G>A) c.15477-16G>A (n.15477-16G>A) c.15468-16G>A (n.15468-16G>A) c.15417-16G>A (n.15417-16G>A) c.15414-16G>A (n.15414-16G>A) c.15381-16G>A (n.15381-16G>A) c.15378-16G>A (n.15378-16G>A) c.15345-16G>A (n.15345-16G>A) c.15480-16G>A (n.15480-16G>A) c.15453-16G>A (n.15453-16G>A) c.15399-16G>A (n.15399-16G>A) c.15366-16G>A (n.15366-16G>A) c.15342-16G>A (n.15342-16G>A) c.15294-16G>A (n.15294-16G>A) c.15243-16G>A (n.15243-16G>A) | dbSNP gnomAD v2 |
1 | g.19078084G>A | CA2695249240 | UBR4 | c.15234-18C>T (n.15234-18C>T) c.2355-18C>T (n.2355-18C>T) c.459-18C>T (n.459-18C>T) n.3223C>T c.15387-18C>T (n.15387-18C>T) c.15384-18C>T (n.15384-18C>T) c.15372-18C>T (n.15372-18C>T) c.15369-18C>T (n.15369-18C>T) c.15363-18C>T (n.15363-18C>T) c.15354-18C>T (n.15354-18C>T) c.15303-18C>T (n.15303-18C>T) c.15300-18C>T (n.15300-18C>T) c.15267-18C>T (n.15267-18C>T) c.15264-18C>T (n.15264-18C>T) c.15231-18C>T (n.15231-18C>T) c.15501-18C>T (n.15501-18C>T) c.15498-18C>T (n.15498-18C>T) c.15486-18C>T (n.15486-18C>T) c.15483-18C>T (n.15483-18C>T) c.15477-18C>T (n.15477-18C>T) c.15468-18C>T (n.15468-18C>T) c.15417-18C>T (n.15417-18C>T) c.15414-18C>T (n.15414-18C>T) c.15381-18C>T (n.15381-18C>T) c.15378-18C>T (n.15378-18C>T) c.15345-18C>T (n.15345-18C>T) c.15480-18C>T (n.15480-18C>T) c.15453-18C>T (n.15453-18C>T) c.15399-18C>T (n.15399-18C>T) c.15366-18C>T (n.15366-18C>T) c.15342-18C>T (n.15342-18C>T) c.15294-18C>T (n.15294-18C>T) c.15243-18C>T (n.15243-18C>T) | dbSNP |
1 | g.19078084G>C | CA18791108 | UBR4 | c.15234-18C>G (n.15234-18C>G) c.2355-18C>G (n.2355-18C>G) c.459-18C>G (n.459-18C>G) n.3223C>G c.15387-18C>G (n.15387-18C>G) c.15384-18C>G (n.15384-18C>G) c.15372-18C>G (n.15372-18C>G) c.15369-18C>G (n.15369-18C>G) c.15363-18C>G (n.15363-18C>G) c.15354-18C>G (n.15354-18C>G) c.15303-18C>G (n.15303-18C>G) c.15300-18C>G (n.15300-18C>G) c.15267-18C>G (n.15267-18C>G) c.15264-18C>G (n.15264-18C>G) c.15231-18C>G (n.15231-18C>G) c.15501-18C>G (n.15501-18C>G) c.15498-18C>G (n.15498-18C>G) c.15486-18C>G (n.15486-18C>G) c.15483-18C>G (n.15483-18C>G) c.15477-18C>G (n.15477-18C>G) c.15468-18C>G (n.15468-18C>G) c.15417-18C>G (n.15417-18C>G) c.15414-18C>G (n.15414-18C>G) c.15381-18C>G (n.15381-18C>G) c.15378-18C>G (n.15378-18C>G) c.15345-18C>G (n.15345-18C>G) c.15480-18C>G (n.15480-18C>G) c.15453-18C>G (n.15453-18C>G) c.15399-18C>G (n.15399-18C>G) c.15366-18C>G (n.15366-18C>G) c.15342-18C>G (n.15342-18C>G) c.15294-18C>G (n.15294-18C>G) c.15243-18C>G (n.15243-18C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.19078084G= | CA1156956093 | UBR4 | c.15234-18C= (n.15234-18C=) c.2355-18C= (n.2355-18C=) c.459-18C= (n.459-18C=) n.3223C= c.15387-18C= (n.15387-18C=) c.15384-18C= (n.15384-18C=) c.15372-18C= (n.15372-18C=) c.15369-18C= (n.15369-18C=) c.15363-18C= (n.15363-18C=) c.15354-18C= (n.15354-18C=) c.15303-18C= (n.15303-18C=) c.15300-18C= (n.15300-18C=) c.15267-18C= (n.15267-18C=) c.15264-18C= (n.15264-18C=) c.15231-18C= (n.15231-18C=) c.15501-18C= (n.15501-18C=) c.15498-18C= (n.15498-18C=) c.15486-18C= (n.15486-18C=) c.15483-18C= (n.15483-18C=) c.15477-18C= (n.15477-18C=) c.15468-18C= (n.15468-18C=) c.15417-18C= (n.15417-18C=) c.15414-18C= (n.15414-18C=) c.15381-18C= (n.15381-18C=) c.15378-18C= (n.15378-18C=) c.15345-18C= (n.15345-18C=) c.15480-18C= (n.15480-18C=) c.15453-18C= (n.15453-18C=) c.15399-18C= (n.15399-18C=) c.15366-18C= (n.15366-18C=) c.15342-18C= (n.15342-18C=) c.15294-18C= (n.15294-18C=) c.15243-18C= (n.15243-18C=) | |
1 | g.19078089A= | CA1156956094 | UBR4 | c.15234-23T= (n.15234-23T=) c.2355-23T= (n.2355-23T=) c.459-23T= (n.459-23T=) n.3218T= c.15387-23T= (n.15387-23T=) c.15384-23T= (n.15384-23T=) c.15372-23T= (n.15372-23T=) c.15369-23T= (n.15369-23T=) c.15363-23T= (n.15363-23T=) c.15354-23T= (n.15354-23T=) c.15303-23T= (n.15303-23T=) c.15300-23T= (n.15300-23T=) c.15267-23T= (n.15267-23T=) c.15264-23T= (n.15264-23T=) c.15231-23T= (n.15231-23T=) c.15501-23T= (n.15501-23T=) c.15498-23T= (n.15498-23T=) c.15486-23T= (n.15486-23T=) c.15483-23T= (n.15483-23T=) c.15477-23T= (n.15477-23T=) c.15468-23T= (n.15468-23T=) c.15417-23T= (n.15417-23T=) c.15414-23T= (n.15414-23T=) c.15381-23T= (n.15381-23T=) c.15378-23T= (n.15378-23T=) c.15345-23T= (n.15345-23T=) c.15480-23T= (n.15480-23T=) c.15453-23T= (n.15453-23T=) c.15399-23T= (n.15399-23T=) c.15366-23T= (n.15366-23T=) c.15342-23T= (n.15342-23T=) c.15294-23T= (n.15294-23T=) c.15243-23T= (n.15243-23T=) | |
1 | g.19078089A>C | CA647928 | UBR4 | c.15234-23T>G (n.15234-23T>G) c.2355-23T>G (n.2355-23T>G) c.459-23T>G (n.459-23T>G) n.3218T>G c.15387-23T>G (n.15387-23T>G) c.15384-23T>G (n.15384-23T>G) c.15372-23T>G (n.15372-23T>G) c.15369-23T>G (n.15369-23T>G) c.15363-23T>G (n.15363-23T>G) c.15354-23T>G (n.15354-23T>G) c.15303-23T>G (n.15303-23T>G) c.15300-23T>G (n.15300-23T>G) c.15267-23T>G (n.15267-23T>G) c.15264-23T>G (n.15264-23T>G) c.15231-23T>G (n.15231-23T>G) c.15501-23T>G (n.15501-23T>G) c.15498-23T>G (n.15498-23T>G) c.15486-23T>G (n.15486-23T>G) c.15483-23T>G (n.15483-23T>G) c.15477-23T>G (n.15477-23T>G) c.15468-23T>G (n.15468-23T>G) c.15417-23T>G (n.15417-23T>G) c.15414-23T>G (n.15414-23T>G) c.15381-23T>G (n.15381-23T>G) c.15378-23T>G (n.15378-23T>G) c.15345-23T>G (n.15345-23T>G) c.15480-23T>G (n.15480-23T>G) c.15453-23T>G (n.15453-23T>G) c.15399-23T>G (n.15399-23T>G) c.15366-23T>G (n.15366-23T>G) c.15342-23T>G (n.15342-23T>G) c.15294-23T>G (n.15294-23T>G) c.15243-23T>G (n.15243-23T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.19078090T>A | CA2574241831 | UBR4 | c.15234-24A>T (n.15234-24A>T) c.2355-24A>T (n.2355-24A>T) c.459-24A>T (n.459-24A>T) n.3217A>T c.15387-24A>T (n.15387-24A>T) c.15384-24A>T (n.15384-24A>T) c.15372-24A>T (n.15372-24A>T) c.15369-24A>T (n.15369-24A>T) c.15363-24A>T (n.15363-24A>T) c.15354-24A>T (n.15354-24A>T) c.15303-24A>T (n.15303-24A>T) c.15300-24A>T (n.15300-24A>T) c.15267-24A>T (n.15267-24A>T) c.15264-24A>T (n.15264-24A>T) c.15231-24A>T (n.15231-24A>T) c.15501-24A>T (n.15501-24A>T) c.15498-24A>T (n.15498-24A>T) c.15486-24A>T (n.15486-24A>T) c.15483-24A>T (n.15483-24A>T) c.15477-24A>T (n.15477-24A>T) c.15468-24A>T (n.15468-24A>T) c.15417-24A>T (n.15417-24A>T) c.15414-24A>T (n.15414-24A>T) c.15381-24A>T (n.15381-24A>T) c.15378-24A>T (n.15378-24A>T) c.15345-24A>T (n.15345-24A>T) c.15480-24A>T (n.15480-24A>T) c.15453-24A>T (n.15453-24A>T) c.15399-24A>T (n.15399-24A>T) c.15366-24A>T (n.15366-24A>T) c.15342-24A>T (n.15342-24A>T) c.15294-24A>T (n.15294-24A>T) c.15243-24A>T (n.15243-24A>T) | |
1 | g.19078093C>A | CA521500025 | UBR4 | c.15234-27G>T (n.15234-27G>T) c.2355-27G>T (n.2355-27G>T) c.459-27G>T (n.459-27G>T) n.3214G>T c.15387-27G>T (n.15387-27G>T) c.15384-27G>T (n.15384-27G>T) c.15372-27G>T (n.15372-27G>T) c.15369-27G>T (n.15369-27G>T) c.15363-27G>T (n.15363-27G>T) c.15354-27G>T (n.15354-27G>T) c.15303-27G>T (n.15303-27G>T) c.15300-27G>T (n.15300-27G>T) c.15267-27G>T (n.15267-27G>T) c.15264-27G>T (n.15264-27G>T) c.15231-27G>T (n.15231-27G>T) c.15501-27G>T (n.15501-27G>T) c.15498-27G>T (n.15498-27G>T) c.15486-27G>T (n.15486-27G>T) c.15483-27G>T (n.15483-27G>T) c.15477-27G>T (n.15477-27G>T) c.15468-27G>T (n.15468-27G>T) c.15417-27G>T (n.15417-27G>T) c.15414-27G>T (n.15414-27G>T) c.15381-27G>T (n.15381-27G>T) c.15378-27G>T (n.15378-27G>T) c.15345-27G>T (n.15345-27G>T) c.15480-27G>T (n.15480-27G>T) c.15453-27G>T (n.15453-27G>T) c.15399-27G>T (n.15399-27G>T) c.15366-27G>T (n.15366-27G>T) c.15342-27G>T (n.15342-27G>T) c.15294-27G>T (n.15294-27G>T) c.15243-27G>T (n.15243-27G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.19078093C= | CA1156956095 | UBR4 | c.15234-27G= (n.15234-27G=) c.2355-27G= (n.2355-27G=) c.459-27G= (n.459-27G=) n.3214G= c.15387-27G= (n.15387-27G=) c.15384-27G= (n.15384-27G=) c.15372-27G= (n.15372-27G=) c.15369-27G= (n.15369-27G=) c.15363-27G= (n.15363-27G=) c.15354-27G= (n.15354-27G=) c.15303-27G= (n.15303-27G=) c.15300-27G= (n.15300-27G=) c.15267-27G= (n.15267-27G=) c.15264-27G= (n.15264-27G=) c.15231-27G= (n.15231-27G=) c.15501-27G= (n.15501-27G=) c.15498-27G= (n.15498-27G=) c.15486-27G= (n.15486-27G=) c.15483-27G= (n.15483-27G=) c.15477-27G= (n.15477-27G=) c.15468-27G= (n.15468-27G=) c.15417-27G= (n.15417-27G=) c.15414-27G= (n.15414-27G=) c.15381-27G= (n.15381-27G=) c.15378-27G= (n.15378-27G=) c.15345-27G= (n.15345-27G=) c.15480-27G= (n.15480-27G=) c.15453-27G= (n.15453-27G=) c.15399-27G= (n.15399-27G=) c.15366-27G= (n.15366-27G=) c.15342-27G= (n.15342-27G=) c.15294-27G= (n.15294-27G=) c.15243-27G= (n.15243-27G=) | |
1 | g.19078094A= | CA1148718483 | UBR4 | c.15234-28T= (n.15234-28T=) c.2355-28T= (n.2355-28T=) c.459-28T= (n.459-28T=) n.3213T= c.15387-28T= (n.15387-28T=) c.15384-28T= (n.15384-28T=) c.15372-28T= (n.15372-28T=) c.15369-28T= (n.15369-28T=) c.15363-28T= (n.15363-28T=) c.15354-28T= (n.15354-28T=) c.15303-28T= (n.15303-28T=) c.15300-28T= (n.15300-28T=) c.15267-28T= (n.15267-28T=) c.15264-28T= (n.15264-28T=) c.15231-28T= (n.15231-28T=) c.15501-28T= (n.15501-28T=) c.15498-28T= (n.15498-28T=) c.15486-28T= (n.15486-28T=) c.15483-28T= (n.15483-28T=) c.15477-28T= (n.15477-28T=) c.15468-28T= (n.15468-28T=) c.15417-28T= (n.15417-28T=) c.15414-28T= (n.15414-28T=) c.15381-28T= (n.15381-28T=) c.15378-28T= (n.15378-28T=) c.15345-28T= (n.15345-28T=) c.15480-28T= (n.15480-28T=) c.15453-28T= (n.15453-28T=) c.15399-28T= (n.15399-28T=) c.15366-28T= (n.15366-28T=) c.15342-28T= (n.15342-28T=) c.15294-28T= (n.15294-28T=) c.15243-28T= (n.15243-28T=) | |
1 | g.19078094A>G | CA647929 | UBR4 | c.15234-28T>C (n.15234-28T>C) c.2355-28T>C (n.2355-28T>C) c.459-28T>C (n.459-28T>C) n.3213T>C c.15387-28T>C (n.15387-28T>C) c.15384-28T>C (n.15384-28T>C) c.15372-28T>C (n.15372-28T>C) c.15369-28T>C (n.15369-28T>C) c.15363-28T>C (n.15363-28T>C) c.15354-28T>C (n.15354-28T>C) c.15303-28T>C (n.15303-28T>C) c.15300-28T>C (n.15300-28T>C) c.15267-28T>C (n.15267-28T>C) c.15264-28T>C (n.15264-28T>C) c.15231-28T>C (n.15231-28T>C) c.15501-28T>C (n.15501-28T>C) c.15498-28T>C (n.15498-28T>C) c.15486-28T>C (n.15486-28T>C) c.15483-28T>C (n.15483-28T>C) c.15477-28T>C (n.15477-28T>C) c.15468-28T>C (n.15468-28T>C) c.15417-28T>C (n.15417-28T>C) c.15414-28T>C (n.15414-28T>C) c.15381-28T>C (n.15381-28T>C) c.15378-28T>C (n.15378-28T>C) c.15345-28T>C (n.15345-28T>C) c.15480-28T>C (n.15480-28T>C) c.15453-28T>C (n.15453-28T>C) c.15399-28T>C (n.15399-28T>C) c.15366-28T>C (n.15366-28T>C) c.15342-28T>C (n.15342-28T>C) c.15294-28T>C (n.15294-28T>C) c.15243-28T>C (n.15243-28T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.19078095T>A | CA729126952 | UBR4 | c.15234-29A>T (n.15234-29A>T) c.2355-29A>T (n.2355-29A>T) c.459-29A>T (n.459-29A>T) n.3212A>T c.15387-29A>T (n.15387-29A>T) c.15384-29A>T (n.15384-29A>T) c.15372-29A>T (n.15372-29A>T) c.15369-29A>T (n.15369-29A>T) c.15363-29A>T (n.15363-29A>T) c.15354-29A>T (n.15354-29A>T) c.15303-29A>T (n.15303-29A>T) c.15300-29A>T (n.15300-29A>T) c.15267-29A>T (n.15267-29A>T) c.15264-29A>T (n.15264-29A>T) c.15231-29A>T (n.15231-29A>T) c.15501-29A>T (n.15501-29A>T) c.15498-29A>T (n.15498-29A>T) c.15486-29A>T (n.15486-29A>T) c.15483-29A>T (n.15483-29A>T) c.15477-29A>T (n.15477-29A>T) c.15468-29A>T (n.15468-29A>T) c.15417-29A>T (n.15417-29A>T) c.15414-29A>T (n.15414-29A>T) c.15381-29A>T (n.15381-29A>T) c.15378-29A>T (n.15378-29A>T) c.15345-29A>T (n.15345-29A>T) c.15480-29A>T (n.15480-29A>T) c.15453-29A>T (n.15453-29A>T) c.15399-29A>T (n.15399-29A>T) c.15366-29A>T (n.15366-29A>T) c.15342-29A>T (n.15342-29A>T) c.15294-29A>T (n.15294-29A>T) c.15243-29A>T (n.15243-29A>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.19078095T>C | CA521500029 | UBR4 | c.15234-29A>G (n.15234-29A>G) c.2355-29A>G (n.2355-29A>G) c.459-29A>G (n.459-29A>G) n.3212A>G c.15387-29A>G (n.15387-29A>G) c.15384-29A>G (n.15384-29A>G) c.15372-29A>G (n.15372-29A>G) c.15369-29A>G (n.15369-29A>G) c.15363-29A>G (n.15363-29A>G) c.15354-29A>G (n.15354-29A>G) c.15303-29A>G (n.15303-29A>G) c.15300-29A>G (n.15300-29A>G) c.15267-29A>G (n.15267-29A>G) c.15264-29A>G (n.15264-29A>G) c.15231-29A>G (n.15231-29A>G) c.15501-29A>G (n.15501-29A>G) c.15498-29A>G (n.15498-29A>G) c.15486-29A>G (n.15486-29A>G) c.15483-29A>G (n.15483-29A>G) c.15477-29A>G (n.15477-29A>G) c.15468-29A>G (n.15468-29A>G) c.15417-29A>G (n.15417-29A>G) c.15414-29A>G (n.15414-29A>G) c.15381-29A>G (n.15381-29A>G) c.15378-29A>G (n.15378-29A>G) c.15345-29A>G (n.15345-29A>G) c.15480-29A>G (n.15480-29A>G) c.15453-29A>G (n.15453-29A>G) c.15399-29A>G (n.15399-29A>G) c.15366-29A>G (n.15366-29A>G) c.15342-29A>G (n.15342-29A>G) c.15294-29A>G (n.15294-29A>G) c.15243-29A>G (n.15243-29A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.19078095T= | CA1156956096 | UBR4 | c.15234-29A= (n.15234-29A=) c.2355-29A= (n.2355-29A=) c.459-29A= (n.459-29A=) n.3212A= c.15387-29A= (n.15387-29A=) c.15384-29A= (n.15384-29A=) c.15372-29A= (n.15372-29A=) c.15369-29A= (n.15369-29A=) c.15363-29A= (n.15363-29A=) c.15354-29A= (n.15354-29A=) c.15303-29A= (n.15303-29A=) c.15300-29A= (n.15300-29A=) c.15267-29A= (n.15267-29A=) c.15264-29A= (n.15264-29A=) c.15231-29A= (n.15231-29A=) c.15501-29A= (n.15501-29A=) c.15498-29A= (n.15498-29A=) c.15486-29A= (n.15486-29A=) c.15483-29A= (n.15483-29A=) c.15477-29A= (n.15477-29A=) c.15468-29A= (n.15468-29A=) c.15417-29A= (n.15417-29A=) c.15414-29A= (n.15414-29A=) c.15381-29A= (n.15381-29A=) c.15378-29A= (n.15378-29A=) c.15345-29A= (n.15345-29A=) c.15480-29A= (n.15480-29A=) c.15453-29A= (n.15453-29A=) c.15399-29A= (n.15399-29A=) c.15366-29A= (n.15366-29A=) c.15342-29A= (n.15342-29A=) c.15294-29A= (n.15294-29A=) c.15243-29A= (n.15243-29A=) | |
1 | g.19078096G>C | CA647930 | UBR4 | c.15234-30C>G (n.15234-30C>G) c.2355-30C>G (n.2355-30C>G) c.459-30C>G (n.459-30C>G) n.3211C>G c.15387-30C>G (n.15387-30C>G) c.15384-30C>G (n.15384-30C>G) c.15372-30C>G (n.15372-30C>G) c.15369-30C>G (n.15369-30C>G) c.15363-30C>G (n.15363-30C>G) c.15354-30C>G (n.15354-30C>G) c.15303-30C>G (n.15303-30C>G) c.15300-30C>G (n.15300-30C>G) c.15267-30C>G (n.15267-30C>G) c.15264-30C>G (n.15264-30C>G) c.15231-30C>G (n.15231-30C>G) c.15501-30C>G (n.15501-30C>G) c.15498-30C>G (n.15498-30C>G) c.15486-30C>G (n.15486-30C>G) c.15483-30C>G (n.15483-30C>G) c.15477-30C>G (n.15477-30C>G) c.15468-30C>G (n.15468-30C>G) c.15417-30C>G (n.15417-30C>G) c.15414-30C>G (n.15414-30C>G) c.15381-30C>G (n.15381-30C>G) c.15378-30C>G (n.15378-30C>G) c.15345-30C>G (n.15345-30C>G) c.15480-30C>G (n.15480-30C>G) c.15453-30C>G (n.15453-30C>G) c.15399-30C>G (n.15399-30C>G) c.15366-30C>G (n.15366-30C>G) c.15342-30C>G (n.15342-30C>G) c.15294-30C>G (n.15294-30C>G) c.15243-30C>G (n.15243-30C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.19078096G= | CA1143078175 | UBR4 | c.15234-30C= (n.15234-30C=) c.2355-30C= (n.2355-30C=) c.459-30C= (n.459-30C=) n.3211C= c.15387-30C= (n.15387-30C=) c.15384-30C= (n.15384-30C=) c.15372-30C= (n.15372-30C=) c.15369-30C= (n.15369-30C=) c.15363-30C= (n.15363-30C=) c.15354-30C= (n.15354-30C=) c.15303-30C= (n.15303-30C=) c.15300-30C= (n.15300-30C=) c.15267-30C= (n.15267-30C=) c.15264-30C= (n.15264-30C=) c.15231-30C= (n.15231-30C=) c.15501-30C= (n.15501-30C=) c.15498-30C= (n.15498-30C=) c.15486-30C= (n.15486-30C=) c.15483-30C= (n.15483-30C=) c.15477-30C= (n.15477-30C=) c.15468-30C= (n.15468-30C=) c.15417-30C= (n.15417-30C=) c.15414-30C= (n.15414-30C=) c.15381-30C= (n.15381-30C=) c.15378-30C= (n.15378-30C=) c.15345-30C= (n.15345-30C=) c.15480-30C= (n.15480-30C=) c.15453-30C= (n.15453-30C=) c.15399-30C= (n.15399-30C=) c.15366-30C= (n.15366-30C=) c.15342-30C= (n.15342-30C=) c.15294-30C= (n.15294-30C=) c.15243-30C= (n.15243-30C=) | |
1 | g.19078096G>T | CA2643751414 | UBR4 | c.15234-30C>A (n.15234-30C>A) c.2355-30C>A (n.2355-30C>A) c.459-30C>A (n.459-30C>A) n.3211C>A c.15387-30C>A (n.15387-30C>A) c.15384-30C>A (n.15384-30C>A) c.15372-30C>A (n.15372-30C>A) c.15369-30C>A (n.15369-30C>A) c.15363-30C>A (n.15363-30C>A) c.15354-30C>A (n.15354-30C>A) c.15303-30C>A (n.15303-30C>A) c.15300-30C>A (n.15300-30C>A) c.15267-30C>A (n.15267-30C>A) c.15264-30C>A (n.15264-30C>A) c.15231-30C>A (n.15231-30C>A) c.15501-30C>A (n.15501-30C>A) c.15498-30C>A (n.15498-30C>A) c.15486-30C>A (n.15486-30C>A) c.15483-30C>A (n.15483-30C>A) c.15477-30C>A (n.15477-30C>A) c.15468-30C>A (n.15468-30C>A) c.15417-30C>A (n.15417-30C>A) c.15414-30C>A (n.15414-30C>A) c.15381-30C>A (n.15381-30C>A) c.15378-30C>A (n.15378-30C>A) c.15345-30C>A (n.15345-30C>A) c.15480-30C>A (n.15480-30C>A) c.15453-30C>A (n.15453-30C>A) c.15399-30C>A (n.15399-30C>A) c.15366-30C>A (n.15366-30C>A) c.15342-30C>A (n.15342-30C>A) c.15294-30C>A (n.15294-30C>A) c.15243-30C>A (n.15243-30C>A) | gnomAD v4 |
1 | g.19078096dup | CA2574241835 | UBR4 | c.15234-30dup (n.15234-30dup) c.2355-30dup (n.2355-30dup) c.459-30dup (n.459-30dup) n.3211dup c.15387-30dup (n.15387-30dup) c.15384-30dup (n.15384-30dup) c.15372-30dup (n.15372-30dup) c.15369-30dup (n.15369-30dup) c.15363-30dup (n.15363-30dup) c.15354-30dup (n.15354-30dup) c.15303-30dup (n.15303-30dup) c.15300-30dup (n.15300-30dup) c.15267-30dup (n.15267-30dup) c.15264-30dup (n.15264-30dup) c.15231-30dup (n.15231-30dup) c.15501-30dup (n.15501-30dup) c.15498-30dup (n.15498-30dup) c.15486-30dup (n.15486-30dup) c.15483-30dup (n.15483-30dup) c.15477-30dup (n.15477-30dup) c.15468-30dup (n.15468-30dup) c.15417-30dup (n.15417-30dup) c.15414-30dup (n.15414-30dup) c.15381-30dup (n.15381-30dup) c.15378-30dup (n.15378-30dup) c.15345-30dup (n.15345-30dup) c.15480-30dup (n.15480-30dup) c.15453-30dup (n.15453-30dup) c.15399-30dup (n.15399-30dup) c.15366-30dup (n.15366-30dup) c.15342-30dup (n.15342-30dup) c.15294-30dup (n.15294-30dup) c.15243-30dup (n.15243-30dup) | |
1 | g.19078097_19078099del | CA2643751413 | UBR4 | c.15234-32_15234-30del (n.15234-32_15234-30del) c.2355-32_2355-30del (n.2355-32_2355-30del) c.459-32_459-30del (n.459-32_459-30del) n.3209_3211del c.15387-32_15387-30del (n.15387-32_15387-30del) c.15384-32_15384-30del (n.15384-32_15384-30del) c.15372-32_15372-30del (n.15372-32_15372-30del) c.15369-32_15369-30del (n.15369-32_15369-30del) c.15363-32_15363-30del (n.15363-32_15363-30del) c.15354-32_15354-30del (n.15354-32_15354-30del) c.15303-32_15303-30del (n.15303-32_15303-30del) c.15300-32_15300-30del (n.15300-32_15300-30del) c.15267-32_15267-30del (n.15267-32_15267-30del) c.15264-32_15264-30del (n.15264-32_15264-30del) c.15231-32_15231-30del (n.15231-32_15231-30del) c.15501-32_15501-30del (n.15501-32_15501-30del) c.15498-32_15498-30del (n.15498-32_15498-30del) c.15486-32_15486-30del (n.15486-32_15486-30del) c.15483-32_15483-30del (n.15483-32_15483-30del) c.15477-32_15477-30del (n.15477-32_15477-30del) c.15468-32_15468-30del (n.15468-32_15468-30del) c.15417-32_15417-30del (n.15417-32_15417-30del) c.15414-32_15414-30del (n.15414-32_15414-30del) c.15381-32_15381-30del (n.15381-32_15381-30del) c.15378-32_15378-30del (n.15378-32_15378-30del) c.15345-32_15345-30del (n.15345-32_15345-30del) c.15480-32_15480-30del (n.15480-32_15480-30del) c.15453-32_15453-30del (n.15453-32_15453-30del) c.15399-32_15399-30del (n.15399-32_15399-30del) c.15366-32_15366-30del (n.15366-32_15366-30del) c.15342-32_15342-30del (n.15342-32_15342-30del) c.15294-32_15294-30del (n.15294-32_15294-30del) c.15243-32_15243-30del (n.15243-32_15243-30del) | gnomAD v4 |
1 | g.19078099G>A | CA2643751415 | UBR4 | c.15234-33C>T (n.15234-33C>T) c.2355-33C>T (n.2355-33C>T) c.459-33C>T (n.459-33C>T) n.3208C>T c.15387-33C>T (n.15387-33C>T) c.15384-33C>T (n.15384-33C>T) c.15372-33C>T (n.15372-33C>T) c.15369-33C>T (n.15369-33C>T) c.15363-33C>T (n.15363-33C>T) c.15354-33C>T (n.15354-33C>T) c.15303-33C>T (n.15303-33C>T) c.15300-33C>T (n.15300-33C>T) c.15267-33C>T (n.15267-33C>T) c.15264-33C>T (n.15264-33C>T) c.15231-33C>T (n.15231-33C>T) c.15501-33C>T (n.15501-33C>T) c.15498-33C>T (n.15498-33C>T) c.15486-33C>T (n.15486-33C>T) c.15483-33C>T (n.15483-33C>T) c.15477-33C>T (n.15477-33C>T) c.15468-33C>T (n.15468-33C>T) c.15417-33C>T (n.15417-33C>T) c.15414-33C>T (n.15414-33C>T) c.15381-33C>T (n.15381-33C>T) c.15378-33C>T (n.15378-33C>T) c.15345-33C>T (n.15345-33C>T) c.15480-33C>T (n.15480-33C>T) c.15453-33C>T (n.15453-33C>T) c.15399-33C>T (n.15399-33C>T) c.15366-33C>T (n.15366-33C>T) c.15342-33C>T (n.15342-33C>T) c.15294-33C>T (n.15294-33C>T) c.15243-33C>T (n.15243-33C>T) | gnomAD v4 |
1 | g.19078102C= | CA1156956097 | UBR4 | c.15234-36G= (n.15234-36G=) c.2355-36G= (n.2355-36G=) c.459-36G= (n.459-36G=) n.3205G= c.15387-36G= (n.15387-36G=) c.15384-36G= (n.15384-36G=) c.15372-36G= (n.15372-36G=) c.15369-36G= (n.15369-36G=) c.15363-36G= (n.15363-36G=) c.15354-36G= (n.15354-36G=) c.15303-36G= (n.15303-36G=) c.15300-36G= (n.15300-36G=) c.15267-36G= (n.15267-36G=) c.15264-36G= (n.15264-36G=) c.15231-36G= (n.15231-36G=) c.15501-36G= (n.15501-36G=) c.15498-36G= (n.15498-36G=) c.15486-36G= (n.15486-36G=) c.15483-36G= (n.15483-36G=) c.15477-36G= (n.15477-36G=) c.15468-36G= (n.15468-36G=) c.15417-36G= (n.15417-36G=) c.15414-36G= (n.15414-36G=) c.15381-36G= (n.15381-36G=) c.15378-36G= (n.15378-36G=) c.15345-36G= (n.15345-36G=) c.15480-36G= (n.15480-36G=) c.15453-36G= (n.15453-36G=) c.15399-36G= (n.15399-36G=) c.15366-36G= (n.15366-36G=) c.15342-36G= (n.15342-36G=) c.15294-36G= (n.15294-36G=) c.15243-36G= (n.15243-36G=) | |
1 | g.19078102C>G | CA521500034 | UBR4 | c.15234-36G>C (n.15234-36G>C) c.2355-36G>C (n.2355-36G>C) c.459-36G>C (n.459-36G>C) n.3205G>C c.15387-36G>C (n.15387-36G>C) c.15384-36G>C (n.15384-36G>C) c.15372-36G>C (n.15372-36G>C) c.15369-36G>C (n.15369-36G>C) c.15363-36G>C (n.15363-36G>C) c.15354-36G>C (n.15354-36G>C) c.15303-36G>C (n.15303-36G>C) c.15300-36G>C (n.15300-36G>C) c.15267-36G>C (n.15267-36G>C) c.15264-36G>C (n.15264-36G>C) c.15231-36G>C (n.15231-36G>C) c.15501-36G>C (n.15501-36G>C) c.15498-36G>C (n.15498-36G>C) c.15486-36G>C (n.15486-36G>C) c.15483-36G>C (n.15483-36G>C) c.15477-36G>C (n.15477-36G>C) c.15468-36G>C (n.15468-36G>C) c.15417-36G>C (n.15417-36G>C) c.15414-36G>C (n.15414-36G>C) c.15381-36G>C (n.15381-36G>C) c.15378-36G>C (n.15378-36G>C) c.15345-36G>C (n.15345-36G>C) c.15480-36G>C (n.15480-36G>C) c.15453-36G>C (n.15453-36G>C) c.15399-36G>C (n.15399-36G>C) c.15366-36G>C (n.15366-36G>C) c.15342-36G>C (n.15342-36G>C) c.15294-36G>C (n.15294-36G>C) c.15243-36G>C (n.15243-36G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.19078102C>T | CA521500036 | UBR4 | c.15234-36G>A (n.15234-36G>A) c.2355-36G>A (n.2355-36G>A) c.459-36G>A (n.459-36G>A) n.3205G>A c.15387-36G>A (n.15387-36G>A) c.15384-36G>A (n.15384-36G>A) c.15372-36G>A (n.15372-36G>A) c.15369-36G>A (n.15369-36G>A) c.15363-36G>A (n.15363-36G>A) c.15354-36G>A (n.15354-36G>A) c.15303-36G>A (n.15303-36G>A) c.15300-36G>A (n.15300-36G>A) c.15267-36G>A (n.15267-36G>A) c.15264-36G>A (n.15264-36G>A) c.15231-36G>A (n.15231-36G>A) c.15501-36G>A (n.15501-36G>A) c.15498-36G>A (n.15498-36G>A) c.15486-36G>A (n.15486-36G>A) c.15483-36G>A (n.15483-36G>A) c.15477-36G>A (n.15477-36G>A) c.15468-36G>A (n.15468-36G>A) c.15417-36G>A (n.15417-36G>A) c.15414-36G>A (n.15414-36G>A) c.15381-36G>A (n.15381-36G>A) c.15378-36G>A (n.15378-36G>A) c.15345-36G>A (n.15345-36G>A) c.15480-36G>A (n.15480-36G>A) c.15453-36G>A (n.15453-36G>A) c.15399-36G>A (n.15399-36G>A) c.15366-36G>A (n.15366-36G>A) c.15342-36G>A (n.15342-36G>A) c.15294-36G>A (n.15294-36G>A) c.15243-36G>A (n.15243-36G>A) | dbSNP gnomAD v2 gnomAD v4 |