Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.19077928A= | CA1143754139 | UBR4 | c.15324+48T= (n.15324+48T=) c.2445+48T= (n.2445+48T=) c.549+48T= (n.549+48T=) n.3331+48T= c.15477+48T= (n.15477+48T=) c.15474+48T= (n.15474+48T=) c.15462+48T= (n.15462+48T=) c.15459+48T= (n.15459+48T=) c.15453+48T= (n.15453+48T=) c.15444+48T= (n.15444+48T=) c.15393+48T= (n.15393+48T=) c.15390+48T= (n.15390+48T=) c.15357+48T= (n.15357+48T=) c.15354+48T= (n.15354+48T=) c.15321+48T= (n.15321+48T=) c.15591+48T= (n.15591+48T=) c.15588+48T= (n.15588+48T=) c.15576+48T= (n.15576+48T=) c.15573+48T= (n.15573+48T=) c.15567+48T= (n.15567+48T=) c.15558+48T= (n.15558+48T=) c.15507+48T= (n.15507+48T=) c.15504+48T= (n.15504+48T=) c.15471+48T= (n.15471+48T=) c.15468+48T= (n.15468+48T=) c.15435+48T= (n.15435+48T=) c.15570+48T= (n.15570+48T=) c.15543+48T= (n.15543+48T=) c.15489+48T= (n.15489+48T=) c.15456+48T= (n.15456+48T=) c.15432+48T= (n.15432+48T=) c.15384+48T= (n.15384+48T=) c.15333+48T= (n.15333+48T=) | |
1 | g.19077928A>C | CA647900 | UBR4 | c.15324+48T>G (n.15324+48T>G) c.2445+48T>G (n.2445+48T>G) c.549+48T>G (n.549+48T>G) n.3331+48T>G c.15477+48T>G (n.15477+48T>G) c.15474+48T>G (n.15474+48T>G) c.15462+48T>G (n.15462+48T>G) c.15459+48T>G (n.15459+48T>G) c.15453+48T>G (n.15453+48T>G) c.15444+48T>G (n.15444+48T>G) c.15393+48T>G (n.15393+48T>G) c.15390+48T>G (n.15390+48T>G) c.15357+48T>G (n.15357+48T>G) c.15354+48T>G (n.15354+48T>G) c.15321+48T>G (n.15321+48T>G) c.15591+48T>G (n.15591+48T>G) c.15588+48T>G (n.15588+48T>G) c.15576+48T>G (n.15576+48T>G) c.15573+48T>G (n.15573+48T>G) c.15567+48T>G (n.15567+48T>G) c.15558+48T>G (n.15558+48T>G) c.15507+48T>G (n.15507+48T>G) c.15504+48T>G (n.15504+48T>G) c.15471+48T>G (n.15471+48T>G) c.15468+48T>G (n.15468+48T>G) c.15435+48T>G (n.15435+48T>G) c.15570+48T>G (n.15570+48T>G) c.15543+48T>G (n.15543+48T>G) c.15489+48T>G (n.15489+48T>G) c.15456+48T>G (n.15456+48T>G) c.15432+48T>G (n.15432+48T>G) c.15384+48T>G (n.15384+48T>G) c.15333+48T>G (n.15333+48T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.19077928A>G | CA647899 | UBR4 | c.15324+48T>C (n.15324+48T>C) c.2445+48T>C (n.2445+48T>C) c.549+48T>C (n.549+48T>C) n.3331+48T>C c.15477+48T>C (n.15477+48T>C) c.15474+48T>C (n.15474+48T>C) c.15462+48T>C (n.15462+48T>C) c.15459+48T>C (n.15459+48T>C) c.15453+48T>C (n.15453+48T>C) c.15444+48T>C (n.15444+48T>C) c.15393+48T>C (n.15393+48T>C) c.15390+48T>C (n.15390+48T>C) c.15357+48T>C (n.15357+48T>C) c.15354+48T>C (n.15354+48T>C) c.15321+48T>C (n.15321+48T>C) c.15591+48T>C (n.15591+48T>C) c.15588+48T>C (n.15588+48T>C) c.15576+48T>C (n.15576+48T>C) c.15573+48T>C (n.15573+48T>C) c.15567+48T>C (n.15567+48T>C) c.15558+48T>C (n.15558+48T>C) c.15507+48T>C (n.15507+48T>C) c.15504+48T>C (n.15504+48T>C) c.15471+48T>C (n.15471+48T>C) c.15468+48T>C (n.15468+48T>C) c.15435+48T>C (n.15435+48T>C) c.15570+48T>C (n.15570+48T>C) c.15543+48T>C (n.15543+48T>C) c.15489+48T>C (n.15489+48T>C) c.15456+48T>C (n.15456+48T>C) c.15432+48T>C (n.15432+48T>C) c.15384+48T>C (n.15384+48T>C) c.15333+48T>C (n.15333+48T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.19077932dup | CA2574241800 | UBR4 | c.15324+47dup (n.15324+47dup) c.2445+47dup (n.2445+47dup) c.549+47dup (n.549+47dup) n.3331+47dup c.15477+47dup (n.15477+47dup) c.15474+47dup (n.15474+47dup) c.15462+47dup (n.15462+47dup) c.15459+47dup (n.15459+47dup) c.15453+47dup (n.15453+47dup) c.15444+47dup (n.15444+47dup) c.15393+47dup (n.15393+47dup) c.15390+47dup (n.15390+47dup) c.15357+47dup (n.15357+47dup) c.15354+47dup (n.15354+47dup) c.15321+47dup (n.15321+47dup) c.15591+47dup (n.15591+47dup) c.15588+47dup (n.15588+47dup) c.15576+47dup (n.15576+47dup) c.15573+47dup (n.15573+47dup) c.15567+47dup (n.15567+47dup) c.15558+47dup (n.15558+47dup) c.15507+47dup (n.15507+47dup) c.15504+47dup (n.15504+47dup) c.15471+47dup (n.15471+47dup) c.15468+47dup (n.15468+47dup) c.15435+47dup (n.15435+47dup) c.15570+47dup (n.15570+47dup) c.15543+47dup (n.15543+47dup) c.15489+47dup (n.15489+47dup) c.15456+47dup (n.15456+47dup) c.15432+47dup (n.15432+47dup) c.15384+47dup (n.15384+47dup) c.15333+47dup (n.15333+47dup) | |
1 | g.19077930T>G | CA647901 | UBR4 | c.15324+46A>C (n.15324+46A>C) c.2445+46A>C (n.2445+46A>C) c.549+46A>C (n.549+46A>C) n.3331+46A>C c.15477+46A>C (n.15477+46A>C) c.15474+46A>C (n.15474+46A>C) c.15462+46A>C (n.15462+46A>C) c.15459+46A>C (n.15459+46A>C) c.15453+46A>C (n.15453+46A>C) c.15444+46A>C (n.15444+46A>C) c.15393+46A>C (n.15393+46A>C) c.15390+46A>C (n.15390+46A>C) c.15357+46A>C (n.15357+46A>C) c.15354+46A>C (n.15354+46A>C) c.15321+46A>C (n.15321+46A>C) c.15591+46A>C (n.15591+46A>C) c.15588+46A>C (n.15588+46A>C) c.15576+46A>C (n.15576+46A>C) c.15573+46A>C (n.15573+46A>C) c.15567+46A>C (n.15567+46A>C) c.15558+46A>C (n.15558+46A>C) c.15507+46A>C (n.15507+46A>C) c.15504+46A>C (n.15504+46A>C) c.15471+46A>C (n.15471+46A>C) c.15468+46A>C (n.15468+46A>C) c.15435+46A>C (n.15435+46A>C) c.15570+46A>C (n.15570+46A>C) c.15543+46A>C (n.15543+46A>C) c.15489+46A>C (n.15489+46A>C) c.15456+46A>C (n.15456+46A>C) c.15432+46A>C (n.15432+46A>C) c.15384+46A>C (n.15384+46A>C) c.15333+46A>C (n.15333+46A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.19077930T= | CA1156956048 | UBR4 | c.15324+46A= (n.15324+46A=) c.2445+46A= (n.2445+46A=) c.549+46A= (n.549+46A=) n.3331+46A= c.15477+46A= (n.15477+46A=) c.15474+46A= (n.15474+46A=) c.15462+46A= (n.15462+46A=) c.15459+46A= (n.15459+46A=) c.15453+46A= (n.15453+46A=) c.15444+46A= (n.15444+46A=) c.15393+46A= (n.15393+46A=) c.15390+46A= (n.15390+46A=) c.15357+46A= (n.15357+46A=) c.15354+46A= (n.15354+46A=) c.15321+46A= (n.15321+46A=) c.15591+46A= (n.15591+46A=) c.15588+46A= (n.15588+46A=) c.15576+46A= (n.15576+46A=) c.15573+46A= (n.15573+46A=) c.15567+46A= (n.15567+46A=) c.15558+46A= (n.15558+46A=) c.15507+46A= (n.15507+46A=) c.15504+46A= (n.15504+46A=) c.15471+46A= (n.15471+46A=) c.15468+46A= (n.15468+46A=) c.15435+46A= (n.15435+46A=) c.15570+46A= (n.15570+46A=) c.15543+46A= (n.15543+46A=) c.15489+46A= (n.15489+46A=) c.15456+46A= (n.15456+46A=) c.15432+46A= (n.15432+46A=) c.15384+46A= (n.15384+46A=) c.15333+46A= (n.15333+46A=) | |
1 | g.19077931T>G | CA999227697 | UBR4 | c.15324+45A>C (n.15324+45A>C) c.2445+45A>C (n.2445+45A>C) c.549+45A>C (n.549+45A>C) n.3331+45A>C c.15477+45A>C (n.15477+45A>C) c.15474+45A>C (n.15474+45A>C) c.15462+45A>C (n.15462+45A>C) c.15459+45A>C (n.15459+45A>C) c.15453+45A>C (n.15453+45A>C) c.15444+45A>C (n.15444+45A>C) c.15393+45A>C (n.15393+45A>C) c.15390+45A>C (n.15390+45A>C) c.15357+45A>C (n.15357+45A>C) c.15354+45A>C (n.15354+45A>C) c.15321+45A>C (n.15321+45A>C) c.15591+45A>C (n.15591+45A>C) c.15588+45A>C (n.15588+45A>C) c.15576+45A>C (n.15576+45A>C) c.15573+45A>C (n.15573+45A>C) c.15567+45A>C (n.15567+45A>C) c.15558+45A>C (n.15558+45A>C) c.15507+45A>C (n.15507+45A>C) c.15504+45A>C (n.15504+45A>C) c.15471+45A>C (n.15471+45A>C) c.15468+45A>C (n.15468+45A>C) c.15435+45A>C (n.15435+45A>C) c.15570+45A>C (n.15570+45A>C) c.15543+45A>C (n.15543+45A>C) c.15489+45A>C (n.15489+45A>C) c.15456+45A>C (n.15456+45A>C) c.15432+45A>C (n.15432+45A>C) c.15384+45A>C (n.15384+45A>C) c.15333+45A>C (n.15333+45A>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.19077931T= | CA1156956049 | UBR4 | c.15324+45A= (n.15324+45A=) c.2445+45A= (n.2445+45A=) c.549+45A= (n.549+45A=) n.3331+45A= c.15477+45A= (n.15477+45A=) c.15474+45A= (n.15474+45A=) c.15462+45A= (n.15462+45A=) c.15459+45A= (n.15459+45A=) c.15453+45A= (n.15453+45A=) c.15444+45A= (n.15444+45A=) c.15393+45A= (n.15393+45A=) c.15390+45A= (n.15390+45A=) c.15357+45A= (n.15357+45A=) c.15354+45A= (n.15354+45A=) c.15321+45A= (n.15321+45A=) c.15591+45A= (n.15591+45A=) c.15588+45A= (n.15588+45A=) c.15576+45A= (n.15576+45A=) c.15573+45A= (n.15573+45A=) c.15567+45A= (n.15567+45A=) c.15558+45A= (n.15558+45A=) c.15507+45A= (n.15507+45A=) c.15504+45A= (n.15504+45A=) c.15471+45A= (n.15471+45A=) c.15468+45A= (n.15468+45A=) c.15435+45A= (n.15435+45A=) c.15570+45A= (n.15570+45A=) c.15543+45A= (n.15543+45A=) c.15489+45A= (n.15489+45A=) c.15456+45A= (n.15456+45A=) c.15432+45A= (n.15432+45A=) c.15384+45A= (n.15384+45A=) c.15333+45A= (n.15333+45A=) | |
1 | g.19077934C= | CA1140610331 | UBR4 | c.15324+42G= (n.15324+42G=) c.2445+42G= (n.2445+42G=) c.549+42G= (n.549+42G=) n.3331+42G= c.15477+42G= (n.15477+42G=) c.15474+42G= (n.15474+42G=) c.15462+42G= (n.15462+42G=) c.15459+42G= (n.15459+42G=) c.15453+42G= (n.15453+42G=) c.15444+42G= (n.15444+42G=) c.15393+42G= (n.15393+42G=) c.15390+42G= (n.15390+42G=) c.15357+42G= (n.15357+42G=) c.15354+42G= (n.15354+42G=) c.15321+42G= (n.15321+42G=) c.15591+42G= (n.15591+42G=) c.15588+42G= (n.15588+42G=) c.15576+42G= (n.15576+42G=) c.15573+42G= (n.15573+42G=) c.15567+42G= (n.15567+42G=) c.15558+42G= (n.15558+42G=) c.15507+42G= (n.15507+42G=) c.15504+42G= (n.15504+42G=) c.15471+42G= (n.15471+42G=) c.15468+42G= (n.15468+42G=) c.15435+42G= (n.15435+42G=) c.15570+42G= (n.15570+42G=) c.15543+42G= (n.15543+42G=) c.15489+42G= (n.15489+42G=) c.15456+42G= (n.15456+42G=) c.15432+42G= (n.15432+42G=) c.15384+42G= (n.15384+42G=) c.15333+42G= (n.15333+42G=) | |
1 | g.19077934C>T | CA647902 | UBR4 | c.15324+42G>A (n.15324+42G>A) c.2445+42G>A (n.2445+42G>A) c.549+42G>A (n.549+42G>A) n.3331+42G>A c.15477+42G>A (n.15477+42G>A) c.15474+42G>A (n.15474+42G>A) c.15462+42G>A (n.15462+42G>A) c.15459+42G>A (n.15459+42G>A) c.15453+42G>A (n.15453+42G>A) c.15444+42G>A (n.15444+42G>A) c.15393+42G>A (n.15393+42G>A) c.15390+42G>A (n.15390+42G>A) c.15357+42G>A (n.15357+42G>A) c.15354+42G>A (n.15354+42G>A) c.15321+42G>A (n.15321+42G>A) c.15591+42G>A (n.15591+42G>A) c.15588+42G>A (n.15588+42G>A) c.15576+42G>A (n.15576+42G>A) c.15573+42G>A (n.15573+42G>A) c.15567+42G>A (n.15567+42G>A) c.15558+42G>A (n.15558+42G>A) c.15507+42G>A (n.15507+42G>A) c.15504+42G>A (n.15504+42G>A) c.15471+42G>A (n.15471+42G>A) c.15468+42G>A (n.15468+42G>A) c.15435+42G>A (n.15435+42G>A) c.15570+42G>A (n.15570+42G>A) c.15543+42G>A (n.15543+42G>A) c.15489+42G>A (n.15489+42G>A) c.15456+42G>A (n.15456+42G>A) c.15432+42G>A (n.15432+42G>A) c.15384+42G>A (n.15384+42G>A) c.15333+42G>A (n.15333+42G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.19077935A>G | CA2643751393 | UBR4 | c.15324+41T>C (n.15324+41T>C) c.2445+41T>C (n.2445+41T>C) c.549+41T>C (n.549+41T>C) n.3331+41T>C c.15477+41T>C (n.15477+41T>C) c.15474+41T>C (n.15474+41T>C) c.15462+41T>C (n.15462+41T>C) c.15459+41T>C (n.15459+41T>C) c.15453+41T>C (n.15453+41T>C) c.15444+41T>C (n.15444+41T>C) c.15393+41T>C (n.15393+41T>C) c.15390+41T>C (n.15390+41T>C) c.15357+41T>C (n.15357+41T>C) c.15354+41T>C (n.15354+41T>C) c.15321+41T>C (n.15321+41T>C) c.15591+41T>C (n.15591+41T>C) c.15588+41T>C (n.15588+41T>C) c.15576+41T>C (n.15576+41T>C) c.15573+41T>C (n.15573+41T>C) c.15567+41T>C (n.15567+41T>C) c.15558+41T>C (n.15558+41T>C) c.15507+41T>C (n.15507+41T>C) c.15504+41T>C (n.15504+41T>C) c.15471+41T>C (n.15471+41T>C) c.15468+41T>C (n.15468+41T>C) c.15435+41T>C (n.15435+41T>C) c.15570+41T>C (n.15570+41T>C) c.15543+41T>C (n.15543+41T>C) c.15489+41T>C (n.15489+41T>C) c.15456+41T>C (n.15456+41T>C) c.15432+41T>C (n.15432+41T>C) c.15384+41T>C (n.15384+41T>C) c.15333+41T>C (n.15333+41T>C) | gnomAD v4 |
1 | g.19077935A>T | CA2838202078 | UBR4 | c.15324+41T>A (n.15324+41T>A) c.2445+41T>A (n.2445+41T>A) c.549+41T>A (n.549+41T>A) n.3331+41T>A c.15477+41T>A (n.15477+41T>A) c.15474+41T>A (n.15474+41T>A) c.15462+41T>A (n.15462+41T>A) c.15459+41T>A (n.15459+41T>A) c.15453+41T>A (n.15453+41T>A) c.15444+41T>A (n.15444+41T>A) c.15393+41T>A (n.15393+41T>A) c.15390+41T>A (n.15390+41T>A) c.15357+41T>A (n.15357+41T>A) c.15354+41T>A (n.15354+41T>A) c.15321+41T>A (n.15321+41T>A) c.15591+41T>A (n.15591+41T>A) c.15588+41T>A (n.15588+41T>A) c.15576+41T>A (n.15576+41T>A) c.15573+41T>A (n.15573+41T>A) c.15567+41T>A (n.15567+41T>A) c.15558+41T>A (n.15558+41T>A) c.15507+41T>A (n.15507+41T>A) c.15504+41T>A (n.15504+41T>A) c.15471+41T>A (n.15471+41T>A) c.15468+41T>A (n.15468+41T>A) c.15435+41T>A (n.15435+41T>A) c.15570+41T>A (n.15570+41T>A) c.15543+41T>A (n.15543+41T>A) c.15489+41T>A (n.15489+41T>A) c.15456+41T>A (n.15456+41T>A) c.15432+41T>A (n.15432+41T>A) c.15384+41T>A (n.15384+41T>A) c.15333+41T>A (n.15333+41T>A) | |
1 | g.19077936C>T | CA2695496167 | UBR4 | c.15324+40G>A (n.15324+40G>A) c.2445+40G>A (n.2445+40G>A) c.549+40G>A (n.549+40G>A) n.3331+40G>A c.15477+40G>A (n.15477+40G>A) c.15474+40G>A (n.15474+40G>A) c.15462+40G>A (n.15462+40G>A) c.15459+40G>A (n.15459+40G>A) c.15453+40G>A (n.15453+40G>A) c.15444+40G>A (n.15444+40G>A) c.15393+40G>A (n.15393+40G>A) c.15390+40G>A (n.15390+40G>A) c.15357+40G>A (n.15357+40G>A) c.15354+40G>A (n.15354+40G>A) c.15321+40G>A (n.15321+40G>A) c.15591+40G>A (n.15591+40G>A) c.15588+40G>A (n.15588+40G>A) c.15576+40G>A (n.15576+40G>A) c.15573+40G>A (n.15573+40G>A) c.15567+40G>A (n.15567+40G>A) c.15558+40G>A (n.15558+40G>A) c.15507+40G>A (n.15507+40G>A) c.15504+40G>A (n.15504+40G>A) c.15471+40G>A (n.15471+40G>A) c.15468+40G>A (n.15468+40G>A) c.15435+40G>A (n.15435+40G>A) c.15570+40G>A (n.15570+40G>A) c.15543+40G>A (n.15543+40G>A) c.15489+40G>A (n.15489+40G>A) c.15456+40G>A (n.15456+40G>A) c.15432+40G>A (n.15432+40G>A) c.15384+40G>A (n.15384+40G>A) c.15333+40G>A (n.15333+40G>A) | dbSNP |
1 | g.19077937T>C | CA2574241802 | UBR4 | c.15324+39A>G (n.15324+39A>G) c.2445+39A>G (n.2445+39A>G) c.549+39A>G (n.549+39A>G) n.3331+39A>G c.15477+39A>G (n.15477+39A>G) c.15474+39A>G (n.15474+39A>G) c.15462+39A>G (n.15462+39A>G) c.15459+39A>G (n.15459+39A>G) c.15453+39A>G (n.15453+39A>G) c.15444+39A>G (n.15444+39A>G) c.15393+39A>G (n.15393+39A>G) c.15390+39A>G (n.15390+39A>G) c.15357+39A>G (n.15357+39A>G) c.15354+39A>G (n.15354+39A>G) c.15321+39A>G (n.15321+39A>G) c.15591+39A>G (n.15591+39A>G) c.15588+39A>G (n.15588+39A>G) c.15576+39A>G (n.15576+39A>G) c.15573+39A>G (n.15573+39A>G) c.15567+39A>G (n.15567+39A>G) c.15558+39A>G (n.15558+39A>G) c.15507+39A>G (n.15507+39A>G) c.15504+39A>G (n.15504+39A>G) c.15471+39A>G (n.15471+39A>G) c.15468+39A>G (n.15468+39A>G) c.15435+39A>G (n.15435+39A>G) c.15570+39A>G (n.15570+39A>G) c.15543+39A>G (n.15543+39A>G) c.15489+39A>G (n.15489+39A>G) c.15456+39A>G (n.15456+39A>G) c.15432+39A>G (n.15432+39A>G) c.15384+39A>G (n.15384+39A>G) c.15333+39A>G (n.15333+39A>G) | |
1 | g.19077939T>C | CA2643751394 | UBR4 | c.15324+37A>G (n.15324+37A>G) c.2445+37A>G (n.2445+37A>G) c.549+37A>G (n.549+37A>G) n.3331+37A>G c.15477+37A>G (n.15477+37A>G) c.15474+37A>G (n.15474+37A>G) c.15462+37A>G (n.15462+37A>G) c.15459+37A>G (n.15459+37A>G) c.15453+37A>G (n.15453+37A>G) c.15444+37A>G (n.15444+37A>G) c.15393+37A>G (n.15393+37A>G) c.15390+37A>G (n.15390+37A>G) c.15357+37A>G (n.15357+37A>G) c.15354+37A>G (n.15354+37A>G) c.15321+37A>G (n.15321+37A>G) c.15591+37A>G (n.15591+37A>G) c.15588+37A>G (n.15588+37A>G) c.15576+37A>G (n.15576+37A>G) c.15573+37A>G (n.15573+37A>G) c.15567+37A>G (n.15567+37A>G) c.15558+37A>G (n.15558+37A>G) c.15507+37A>G (n.15507+37A>G) c.15504+37A>G (n.15504+37A>G) c.15471+37A>G (n.15471+37A>G) c.15468+37A>G (n.15468+37A>G) c.15435+37A>G (n.15435+37A>G) c.15570+37A>G (n.15570+37A>G) c.15543+37A>G (n.15543+37A>G) c.15489+37A>G (n.15489+37A>G) c.15456+37A>G (n.15456+37A>G) c.15432+37A>G (n.15432+37A>G) c.15384+37A>G (n.15384+37A>G) c.15333+37A>G (n.15333+37A>G) | gnomAD v4 |
1 | g.19077941G>A | CA2643751395 | UBR4 | c.15324+35C>T (n.15324+35C>T) c.2445+35C>T (n.2445+35C>T) c.549+35C>T (n.549+35C>T) n.3331+35C>T c.15477+35C>T (n.15477+35C>T) c.15474+35C>T (n.15474+35C>T) c.15462+35C>T (n.15462+35C>T) c.15459+35C>T (n.15459+35C>T) c.15453+35C>T (n.15453+35C>T) c.15444+35C>T (n.15444+35C>T) c.15393+35C>T (n.15393+35C>T) c.15390+35C>T (n.15390+35C>T) c.15357+35C>T (n.15357+35C>T) c.15354+35C>T (n.15354+35C>T) c.15321+35C>T (n.15321+35C>T) c.15591+35C>T (n.15591+35C>T) c.15588+35C>T (n.15588+35C>T) c.15576+35C>T (n.15576+35C>T) c.15573+35C>T (n.15573+35C>T) c.15567+35C>T (n.15567+35C>T) c.15558+35C>T (n.15558+35C>T) c.15507+35C>T (n.15507+35C>T) c.15504+35C>T (n.15504+35C>T) c.15471+35C>T (n.15471+35C>T) c.15468+35C>T (n.15468+35C>T) c.15435+35C>T (n.15435+35C>T) c.15570+35C>T (n.15570+35C>T) c.15543+35C>T (n.15543+35C>T) c.15489+35C>T (n.15489+35C>T) c.15456+35C>T (n.15456+35C>T) c.15432+35C>T (n.15432+35C>T) c.15384+35C>T (n.15384+35C>T) c.15333+35C>T (n.15333+35C>T) | gnomAD v4 |
1 | g.19077941G>C | CA2643751396 | UBR4 | c.15324+35C>G (n.15324+35C>G) c.2445+35C>G (n.2445+35C>G) c.549+35C>G (n.549+35C>G) n.3331+35C>G c.15477+35C>G (n.15477+35C>G) c.15474+35C>G (n.15474+35C>G) c.15462+35C>G (n.15462+35C>G) c.15459+35C>G (n.15459+35C>G) c.15453+35C>G (n.15453+35C>G) c.15444+35C>G (n.15444+35C>G) c.15393+35C>G (n.15393+35C>G) c.15390+35C>G (n.15390+35C>G) c.15357+35C>G (n.15357+35C>G) c.15354+35C>G (n.15354+35C>G) c.15321+35C>G (n.15321+35C>G) c.15591+35C>G (n.15591+35C>G) c.15588+35C>G (n.15588+35C>G) c.15576+35C>G (n.15576+35C>G) c.15573+35C>G (n.15573+35C>G) c.15567+35C>G (n.15567+35C>G) c.15558+35C>G (n.15558+35C>G) c.15507+35C>G (n.15507+35C>G) c.15504+35C>G (n.15504+35C>G) c.15471+35C>G (n.15471+35C>G) c.15468+35C>G (n.15468+35C>G) c.15435+35C>G (n.15435+35C>G) c.15570+35C>G (n.15570+35C>G) c.15543+35C>G (n.15543+35C>G) c.15489+35C>G (n.15489+35C>G) c.15456+35C>G (n.15456+35C>G) c.15432+35C>G (n.15432+35C>G) c.15384+35C>G (n.15384+35C>G) c.15333+35C>G (n.15333+35C>G) | gnomAD v4 |
1 | g.19077941G= | CA1156956050 | UBR4 | c.15324+35C= (n.15324+35C=) c.2445+35C= (n.2445+35C=) c.549+35C= (n.549+35C=) n.3331+35C= c.15477+35C= (n.15477+35C=) c.15474+35C= (n.15474+35C=) c.15462+35C= (n.15462+35C=) c.15459+35C= (n.15459+35C=) c.15453+35C= (n.15453+35C=) c.15444+35C= (n.15444+35C=) c.15393+35C= (n.15393+35C=) c.15390+35C= (n.15390+35C=) c.15357+35C= (n.15357+35C=) c.15354+35C= (n.15354+35C=) c.15321+35C= (n.15321+35C=) c.15591+35C= (n.15591+35C=) c.15588+35C= (n.15588+35C=) c.15576+35C= (n.15576+35C=) c.15573+35C= (n.15573+35C=) c.15567+35C= (n.15567+35C=) c.15558+35C= (n.15558+35C=) c.15507+35C= (n.15507+35C=) c.15504+35C= (n.15504+35C=) c.15471+35C= (n.15471+35C=) c.15468+35C= (n.15468+35C=) c.15435+35C= (n.15435+35C=) c.15570+35C= (n.15570+35C=) c.15543+35C= (n.15543+35C=) c.15489+35C= (n.15489+35C=) c.15456+35C= (n.15456+35C=) c.15432+35C= (n.15432+35C=) c.15384+35C= (n.15384+35C=) c.15333+35C= (n.15333+35C=) | |
1 | g.19077941G>T | CA999227700 | UBR4 | c.15324+35C>A (n.15324+35C>A) c.2445+35C>A (n.2445+35C>A) c.549+35C>A (n.549+35C>A) n.3331+35C>A c.15477+35C>A (n.15477+35C>A) c.15474+35C>A (n.15474+35C>A) c.15462+35C>A (n.15462+35C>A) c.15459+35C>A (n.15459+35C>A) c.15453+35C>A (n.15453+35C>A) c.15444+35C>A (n.15444+35C>A) c.15393+35C>A (n.15393+35C>A) c.15390+35C>A (n.15390+35C>A) c.15357+35C>A (n.15357+35C>A) c.15354+35C>A (n.15354+35C>A) c.15321+35C>A (n.15321+35C>A) c.15591+35C>A (n.15591+35C>A) c.15588+35C>A (n.15588+35C>A) c.15576+35C>A (n.15576+35C>A) c.15573+35C>A (n.15573+35C>A) c.15567+35C>A (n.15567+35C>A) c.15558+35C>A (n.15558+35C>A) c.15507+35C>A (n.15507+35C>A) c.15504+35C>A (n.15504+35C>A) c.15471+35C>A (n.15471+35C>A) c.15468+35C>A (n.15468+35C>A) c.15435+35C>A (n.15435+35C>A) c.15570+35C>A (n.15570+35C>A) c.15543+35C>A (n.15543+35C>A) c.15489+35C>A (n.15489+35C>A) c.15456+35C>A (n.15456+35C>A) c.15432+35C>A (n.15432+35C>A) c.15384+35C>A (n.15384+35C>A) c.15333+35C>A (n.15333+35C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.19077943C= | CA1156956051 | UBR4 | c.15324+33G= (n.15324+33G=) c.2445+33G= (n.2445+33G=) c.549+33G= (n.549+33G=) n.3331+33G= c.15477+33G= (n.15477+33G=) c.15474+33G= (n.15474+33G=) c.15462+33G= (n.15462+33G=) c.15459+33G= (n.15459+33G=) c.15453+33G= (n.15453+33G=) c.15444+33G= (n.15444+33G=) c.15393+33G= (n.15393+33G=) c.15390+33G= (n.15390+33G=) c.15357+33G= (n.15357+33G=) c.15354+33G= (n.15354+33G=) c.15321+33G= (n.15321+33G=) c.15591+33G= (n.15591+33G=) c.15588+33G= (n.15588+33G=) c.15576+33G= (n.15576+33G=) c.15573+33G= (n.15573+33G=) c.15567+33G= (n.15567+33G=) c.15558+33G= (n.15558+33G=) c.15507+33G= (n.15507+33G=) c.15504+33G= (n.15504+33G=) c.15471+33G= (n.15471+33G=) c.15468+33G= (n.15468+33G=) c.15435+33G= (n.15435+33G=) c.15570+33G= (n.15570+33G=) c.15543+33G= (n.15543+33G=) c.15489+33G= (n.15489+33G=) c.15456+33G= (n.15456+33G=) c.15432+33G= (n.15432+33G=) c.15384+33G= (n.15384+33G=) c.15333+33G= (n.15333+33G=) | |
1 | g.19077943C>G | CA521499979 | UBR4 | c.15324+33G>C (n.15324+33G>C) c.2445+33G>C (n.2445+33G>C) c.549+33G>C (n.549+33G>C) n.3331+33G>C c.15477+33G>C (n.15477+33G>C) c.15474+33G>C (n.15474+33G>C) c.15462+33G>C (n.15462+33G>C) c.15459+33G>C (n.15459+33G>C) c.15453+33G>C (n.15453+33G>C) c.15444+33G>C (n.15444+33G>C) c.15393+33G>C (n.15393+33G>C) c.15390+33G>C (n.15390+33G>C) c.15357+33G>C (n.15357+33G>C) c.15354+33G>C (n.15354+33G>C) c.15321+33G>C (n.15321+33G>C) c.15591+33G>C (n.15591+33G>C) c.15588+33G>C (n.15588+33G>C) c.15576+33G>C (n.15576+33G>C) c.15573+33G>C (n.15573+33G>C) c.15567+33G>C (n.15567+33G>C) c.15558+33G>C (n.15558+33G>C) c.15507+33G>C (n.15507+33G>C) c.15504+33G>C (n.15504+33G>C) c.15471+33G>C (n.15471+33G>C) c.15468+33G>C (n.15468+33G>C) c.15435+33G>C (n.15435+33G>C) c.15570+33G>C (n.15570+33G>C) c.15543+33G>C (n.15543+33G>C) c.15489+33G>C (n.15489+33G>C) c.15456+33G>C (n.15456+33G>C) c.15432+33G>C (n.15432+33G>C) c.15384+33G>C (n.15384+33G>C) c.15333+33G>C (n.15333+33G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.19077947_19077948delinsAC | CA1156956052 | UBR4 | c.15324+28_15324+29delinsGT (n.15324+28_15324+29delinsGT) c.2445+28_2445+29delinsGT (n.2445+28_2445+29delinsGT) c.549+28_549+29delinsGT (n.549+28_549+29delinsGT) n.3331+28_3331+29delinsGT c.15477+28_15477+29delinsGT (n.15477+28_15477+29delinsGT) c.15474+28_15474+29delinsGT (n.15474+28_15474+29delinsGT) c.15462+28_15462+29delinsGT (n.15462+28_15462+29delinsGT) c.15459+28_15459+29delinsGT (n.15459+28_15459+29delinsGT) c.15453+28_15453+29delinsGT (n.15453+28_15453+29delinsGT) c.15444+28_15444+29delinsGT (n.15444+28_15444+29delinsGT) c.15393+28_15393+29delinsGT (n.15393+28_15393+29delinsGT) c.15390+28_15390+29delinsGT (n.15390+28_15390+29delinsGT) c.15357+28_15357+29delinsGT (n.15357+28_15357+29delinsGT) c.15354+28_15354+29delinsGT (n.15354+28_15354+29delinsGT) c.15321+28_15321+29delinsGT (n.15321+28_15321+29delinsGT) c.15591+28_15591+29delinsGT (n.15591+28_15591+29delinsGT) c.15588+28_15588+29delinsGT (n.15588+28_15588+29delinsGT) c.15576+28_15576+29delinsGT (n.15576+28_15576+29delinsGT) c.15573+28_15573+29delinsGT (n.15573+28_15573+29delinsGT) c.15567+28_15567+29delinsGT (n.15567+28_15567+29delinsGT) c.15558+28_15558+29delinsGT (n.15558+28_15558+29delinsGT) c.15507+28_15507+29delinsGT (n.15507+28_15507+29delinsGT) c.15504+28_15504+29delinsGT (n.15504+28_15504+29delinsGT) c.15471+28_15471+29delinsGT (n.15471+28_15471+29delinsGT) c.15468+28_15468+29delinsGT (n.15468+28_15468+29delinsGT) c.15435+28_15435+29delinsGT (n.15435+28_15435+29delinsGT) c.15570+28_15570+29delinsGT (n.15570+28_15570+29delinsGT) c.15543+28_15543+29delinsGT (n.15543+28_15543+29delinsGT) c.15489+28_15489+29delinsGT (n.15489+28_15489+29delinsGT) c.15456+28_15456+29delinsGT (n.15456+28_15456+29delinsGT) c.15432+28_15432+29delinsGT (n.15432+28_15432+29delinsGT) c.15384+28_15384+29delinsGT (n.15384+28_15384+29delinsGT) c.15333+28_15333+29delinsGT (n.15333+28_15333+29delinsGT) | |
1 | g.19077950del | CA521499980 | UBR4 | c.15324+28del (n.15324+28del) c.2445+28del (n.2445+28del) c.549+28del (n.549+28del) n.3331+28del c.15477+28del (n.15477+28del) c.15474+28del (n.15474+28del) c.15462+28del (n.15462+28del) c.15459+28del (n.15459+28del) c.15453+28del (n.15453+28del) c.15444+28del (n.15444+28del) c.15393+28del (n.15393+28del) c.15390+28del (n.15390+28del) c.15357+28del (n.15357+28del) c.15354+28del (n.15354+28del) c.15321+28del (n.15321+28del) c.15591+28del (n.15591+28del) c.15588+28del (n.15588+28del) c.15576+28del (n.15576+28del) c.15573+28del (n.15573+28del) c.15567+28del (n.15567+28del) c.15558+28del (n.15558+28del) c.15507+28del (n.15507+28del) c.15504+28del (n.15504+28del) c.15471+28del (n.15471+28del) c.15468+28del (n.15468+28del) c.15435+28del (n.15435+28del) c.15570+28del (n.15570+28del) c.15543+28del (n.15543+28del) c.15489+28del (n.15489+28del) c.15456+28del (n.15456+28del) c.15432+28del (n.15432+28del) c.15384+28del (n.15384+28del) c.15333+28del (n.15333+28del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.19077949C= | CA1146895313 | UBR4 | c.15324+27G= (n.15324+27G=) c.2445+27G= (n.2445+27G=) c.549+27G= (n.549+27G=) n.3331+27G= c.15477+27G= (n.15477+27G=) c.15474+27G= (n.15474+27G=) c.15462+27G= (n.15462+27G=) c.15459+27G= (n.15459+27G=) c.15453+27G= (n.15453+27G=) c.15444+27G= (n.15444+27G=) c.15393+27G= (n.15393+27G=) c.15390+27G= (n.15390+27G=) c.15357+27G= (n.15357+27G=) c.15354+27G= (n.15354+27G=) c.15321+27G= (n.15321+27G=) c.15591+27G= (n.15591+27G=) c.15588+27G= (n.15588+27G=) c.15576+27G= (n.15576+27G=) c.15573+27G= (n.15573+27G=) c.15567+27G= (n.15567+27G=) c.15558+27G= (n.15558+27G=) c.15507+27G= (n.15507+27G=) c.15504+27G= (n.15504+27G=) c.15471+27G= (n.15471+27G=) c.15468+27G= (n.15468+27G=) c.15435+27G= (n.15435+27G=) c.15570+27G= (n.15570+27G=) c.15543+27G= (n.15543+27G=) c.15489+27G= (n.15489+27G=) c.15456+27G= (n.15456+27G=) c.15432+27G= (n.15432+27G=) c.15384+27G= (n.15384+27G=) c.15333+27G= (n.15333+27G=) | |
1 | g.19077949C>G | CA2643751397 | UBR4 | c.15324+27G>C (n.15324+27G>C) c.2445+27G>C (n.2445+27G>C) c.549+27G>C (n.549+27G>C) n.3331+27G>C c.15477+27G>C (n.15477+27G>C) c.15474+27G>C (n.15474+27G>C) c.15462+27G>C (n.15462+27G>C) c.15459+27G>C (n.15459+27G>C) c.15453+27G>C (n.15453+27G>C) c.15444+27G>C (n.15444+27G>C) c.15393+27G>C (n.15393+27G>C) c.15390+27G>C (n.15390+27G>C) c.15357+27G>C (n.15357+27G>C) c.15354+27G>C (n.15354+27G>C) c.15321+27G>C (n.15321+27G>C) c.15591+27G>C (n.15591+27G>C) c.15588+27G>C (n.15588+27G>C) c.15576+27G>C (n.15576+27G>C) c.15573+27G>C (n.15573+27G>C) c.15567+27G>C (n.15567+27G>C) c.15558+27G>C (n.15558+27G>C) c.15507+27G>C (n.15507+27G>C) c.15504+27G>C (n.15504+27G>C) c.15471+27G>C (n.15471+27G>C) c.15468+27G>C (n.15468+27G>C) c.15435+27G>C (n.15435+27G>C) c.15570+27G>C (n.15570+27G>C) c.15543+27G>C (n.15543+27G>C) c.15489+27G>C (n.15489+27G>C) c.15456+27G>C (n.15456+27G>C) c.15432+27G>C (n.15432+27G>C) c.15384+27G>C (n.15384+27G>C) c.15333+27G>C (n.15333+27G>C) | gnomAD v4 |
1 | g.19077949C>T | CA647903 | UBR4 | c.15324+27G>A (n.15324+27G>A) c.2445+27G>A (n.2445+27G>A) c.549+27G>A (n.549+27G>A) n.3331+27G>A c.15477+27G>A (n.15477+27G>A) c.15474+27G>A (n.15474+27G>A) c.15462+27G>A (n.15462+27G>A) c.15459+27G>A (n.15459+27G>A) c.15453+27G>A (n.15453+27G>A) c.15444+27G>A (n.15444+27G>A) c.15393+27G>A (n.15393+27G>A) c.15390+27G>A (n.15390+27G>A) c.15357+27G>A (n.15357+27G>A) c.15354+27G>A (n.15354+27G>A) c.15321+27G>A (n.15321+27G>A) c.15591+27G>A (n.15591+27G>A) c.15588+27G>A (n.15588+27G>A) c.15576+27G>A (n.15576+27G>A) c.15573+27G>A (n.15573+27G>A) c.15567+27G>A (n.15567+27G>A) c.15558+27G>A (n.15558+27G>A) c.15507+27G>A (n.15507+27G>A) c.15504+27G>A (n.15504+27G>A) c.15471+27G>A (n.15471+27G>A) c.15468+27G>A (n.15468+27G>A) c.15435+27G>A (n.15435+27G>A) c.15570+27G>A (n.15570+27G>A) c.15543+27G>A (n.15543+27G>A) c.15489+27G>A (n.15489+27G>A) c.15456+27G>A (n.15456+27G>A) c.15432+27G>A (n.15432+27G>A) c.15384+27G>A (n.15384+27G>A) c.15333+27G>A (n.15333+27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.19077950C>A | CA18791003 | UBR4 | c.15324+26G>T (n.15324+26G>T) c.2445+26G>T (n.2445+26G>T) c.549+26G>T (n.549+26G>T) n.3331+26G>T c.15477+26G>T (n.15477+26G>T) c.15474+26G>T (n.15474+26G>T) c.15462+26G>T (n.15462+26G>T) c.15459+26G>T (n.15459+26G>T) c.15453+26G>T (n.15453+26G>T) c.15444+26G>T (n.15444+26G>T) c.15393+26G>T (n.15393+26G>T) c.15390+26G>T (n.15390+26G>T) c.15357+26G>T (n.15357+26G>T) c.15354+26G>T (n.15354+26G>T) c.15321+26G>T (n.15321+26G>T) c.15591+26G>T (n.15591+26G>T) c.15588+26G>T (n.15588+26G>T) c.15576+26G>T (n.15576+26G>T) c.15573+26G>T (n.15573+26G>T) c.15567+26G>T (n.15567+26G>T) c.15558+26G>T (n.15558+26G>T) c.15507+26G>T (n.15507+26G>T) c.15504+26G>T (n.15504+26G>T) c.15471+26G>T (n.15471+26G>T) c.15468+26G>T (n.15468+26G>T) c.15435+26G>T (n.15435+26G>T) c.15570+26G>T (n.15570+26G>T) c.15543+26G>T (n.15543+26G>T) c.15489+26G>T (n.15489+26G>T) c.15456+26G>T (n.15456+26G>T) c.15432+26G>T (n.15432+26G>T) c.15384+26G>T (n.15384+26G>T) c.15333+26G>T (n.15333+26G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.19077950C= | CA1156956053 | UBR4 | c.15324+26G= (n.15324+26G=) c.2445+26G= (n.2445+26G=) c.549+26G= (n.549+26G=) n.3331+26G= c.15477+26G= (n.15477+26G=) c.15474+26G= (n.15474+26G=) c.15462+26G= (n.15462+26G=) c.15459+26G= (n.15459+26G=) c.15453+26G= (n.15453+26G=) c.15444+26G= (n.15444+26G=) c.15393+26G= (n.15393+26G=) c.15390+26G= (n.15390+26G=) c.15357+26G= (n.15357+26G=) c.15354+26G= (n.15354+26G=) c.15321+26G= (n.15321+26G=) c.15591+26G= (n.15591+26G=) c.15588+26G= (n.15588+26G=) c.15576+26G= (n.15576+26G=) c.15573+26G= (n.15573+26G=) c.15567+26G= (n.15567+26G=) c.15558+26G= (n.15558+26G=) c.15507+26G= (n.15507+26G=) c.15504+26G= (n.15504+26G=) c.15471+26G= (n.15471+26G=) c.15468+26G= (n.15468+26G=) c.15435+26G= (n.15435+26G=) c.15570+26G= (n.15570+26G=) c.15543+26G= (n.15543+26G=) c.15489+26G= (n.15489+26G=) c.15456+26G= (n.15456+26G=) c.15432+26G= (n.15432+26G=) c.15384+26G= (n.15384+26G=) c.15333+26G= (n.15333+26G=) | |
1 | g.19077950C>T | CA729126771 | UBR4 | c.15324+26G>A (n.15324+26G>A) c.2445+26G>A (n.2445+26G>A) c.549+26G>A (n.549+26G>A) n.3331+26G>A c.15477+26G>A (n.15477+26G>A) c.15474+26G>A (n.15474+26G>A) c.15462+26G>A (n.15462+26G>A) c.15459+26G>A (n.15459+26G>A) c.15453+26G>A (n.15453+26G>A) c.15444+26G>A (n.15444+26G>A) c.15393+26G>A (n.15393+26G>A) c.15390+26G>A (n.15390+26G>A) c.15357+26G>A (n.15357+26G>A) c.15354+26G>A (n.15354+26G>A) c.15321+26G>A (n.15321+26G>A) c.15591+26G>A (n.15591+26G>A) c.15588+26G>A (n.15588+26G>A) c.15576+26G>A (n.15576+26G>A) c.15573+26G>A (n.15573+26G>A) c.15567+26G>A (n.15567+26G>A) c.15558+26G>A (n.15558+26G>A) c.15507+26G>A (n.15507+26G>A) c.15504+26G>A (n.15504+26G>A) c.15471+26G>A (n.15471+26G>A) c.15468+26G>A (n.15468+26G>A) c.15435+26G>A (n.15435+26G>A) c.15570+26G>A (n.15570+26G>A) c.15543+26G>A (n.15543+26G>A) c.15489+26G>A (n.15489+26G>A) c.15456+26G>A (n.15456+26G>A) c.15432+26G>A (n.15432+26G>A) c.15384+26G>A (n.15384+26G>A) c.15333+26G>A (n.15333+26G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.19077951A>G | CA2643751399 | UBR4 | c.15324+25T>C (n.15324+25T>C) c.2445+25T>C (n.2445+25T>C) c.549+25T>C (n.549+25T>C) n.3331+25T>C c.15477+25T>C (n.15477+25T>C) c.15474+25T>C (n.15474+25T>C) c.15462+25T>C (n.15462+25T>C) c.15459+25T>C (n.15459+25T>C) c.15453+25T>C (n.15453+25T>C) c.15444+25T>C (n.15444+25T>C) c.15393+25T>C (n.15393+25T>C) c.15390+25T>C (n.15390+25T>C) c.15357+25T>C (n.15357+25T>C) c.15354+25T>C (n.15354+25T>C) c.15321+25T>C (n.15321+25T>C) c.15591+25T>C (n.15591+25T>C) c.15588+25T>C (n.15588+25T>C) c.15576+25T>C (n.15576+25T>C) c.15573+25T>C (n.15573+25T>C) c.15567+25T>C (n.15567+25T>C) c.15558+25T>C (n.15558+25T>C) c.15507+25T>C (n.15507+25T>C) c.15504+25T>C (n.15504+25T>C) c.15471+25T>C (n.15471+25T>C) c.15468+25T>C (n.15468+25T>C) c.15435+25T>C (n.15435+25T>C) c.15570+25T>C (n.15570+25T>C) c.15543+25T>C (n.15543+25T>C) c.15489+25T>C (n.15489+25T>C) c.15456+25T>C (n.15456+25T>C) c.15432+25T>C (n.15432+25T>C) c.15384+25T>C (n.15384+25T>C) c.15333+25T>C (n.15333+25T>C) | gnomAD v4 |
1 | g.19077952C>A | CA647904 | UBR4 | c.15324+24G>T (n.15324+24G>T) c.2445+24G>T (n.2445+24G>T) c.549+24G>T (n.549+24G>T) n.3331+24G>T c.15477+24G>T (n.15477+24G>T) c.15474+24G>T (n.15474+24G>T) c.15462+24G>T (n.15462+24G>T) c.15459+24G>T (n.15459+24G>T) c.15453+24G>T (n.15453+24G>T) c.15444+24G>T (n.15444+24G>T) c.15393+24G>T (n.15393+24G>T) c.15390+24G>T (n.15390+24G>T) c.15357+24G>T (n.15357+24G>T) c.15354+24G>T (n.15354+24G>T) c.15321+24G>T (n.15321+24G>T) c.15591+24G>T (n.15591+24G>T) c.15588+24G>T (n.15588+24G>T) c.15576+24G>T (n.15576+24G>T) c.15573+24G>T (n.15573+24G>T) c.15567+24G>T (n.15567+24G>T) c.15558+24G>T (n.15558+24G>T) c.15507+24G>T (n.15507+24G>T) c.15504+24G>T (n.15504+24G>T) c.15471+24G>T (n.15471+24G>T) c.15468+24G>T (n.15468+24G>T) c.15435+24G>T (n.15435+24G>T) c.15570+24G>T (n.15570+24G>T) c.15543+24G>T (n.15543+24G>T) c.15489+24G>T (n.15489+24G>T) c.15456+24G>T (n.15456+24G>T) c.15432+24G>T (n.15432+24G>T) c.15384+24G>T (n.15384+24G>T) c.15333+24G>T (n.15333+24G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.19077952C= | CA1156956054 | UBR4 | c.15324+24G= (n.15324+24G=) c.2445+24G= (n.2445+24G=) c.549+24G= (n.549+24G=) n.3331+24G= c.15477+24G= (n.15477+24G=) c.15474+24G= (n.15474+24G=) c.15462+24G= (n.15462+24G=) c.15459+24G= (n.15459+24G=) c.15453+24G= (n.15453+24G=) c.15444+24G= (n.15444+24G=) c.15393+24G= (n.15393+24G=) c.15390+24G= (n.15390+24G=) c.15357+24G= (n.15357+24G=) c.15354+24G= (n.15354+24G=) c.15321+24G= (n.15321+24G=) c.15591+24G= (n.15591+24G=) c.15588+24G= (n.15588+24G=) c.15576+24G= (n.15576+24G=) c.15573+24G= (n.15573+24G=) c.15567+24G= (n.15567+24G=) c.15558+24G= (n.15558+24G=) c.15507+24G= (n.15507+24G=) c.15504+24G= (n.15504+24G=) c.15471+24G= (n.15471+24G=) c.15468+24G= (n.15468+24G=) c.15435+24G= (n.15435+24G=) c.15570+24G= (n.15570+24G=) c.15543+24G= (n.15543+24G=) c.15489+24G= (n.15489+24G=) c.15456+24G= (n.15456+24G=) c.15432+24G= (n.15432+24G=) c.15384+24G= (n.15384+24G=) c.15333+24G= (n.15333+24G=) | |
1 | g.19077953T>C | CA521499984 | UBR4 | c.15324+23A>G (n.15324+23A>G) c.2445+23A>G (n.2445+23A>G) c.549+23A>G (n.549+23A>G) n.3331+23A>G c.15477+23A>G (n.15477+23A>G) c.15474+23A>G (n.15474+23A>G) c.15462+23A>G (n.15462+23A>G) c.15459+23A>G (n.15459+23A>G) c.15453+23A>G (n.15453+23A>G) c.15444+23A>G (n.15444+23A>G) c.15393+23A>G (n.15393+23A>G) c.15390+23A>G (n.15390+23A>G) c.15357+23A>G (n.15357+23A>G) c.15354+23A>G (n.15354+23A>G) c.15321+23A>G (n.15321+23A>G) c.15591+23A>G (n.15591+23A>G) c.15588+23A>G (n.15588+23A>G) c.15576+23A>G (n.15576+23A>G) c.15573+23A>G (n.15573+23A>G) c.15567+23A>G (n.15567+23A>G) c.15558+23A>G (n.15558+23A>G) c.15507+23A>G (n.15507+23A>G) c.15504+23A>G (n.15504+23A>G) c.15471+23A>G (n.15471+23A>G) c.15468+23A>G (n.15468+23A>G) c.15435+23A>G (n.15435+23A>G) c.15570+23A>G (n.15570+23A>G) c.15543+23A>G (n.15543+23A>G) c.15489+23A>G (n.15489+23A>G) c.15456+23A>G (n.15456+23A>G) c.15432+23A>G (n.15432+23A>G) c.15384+23A>G (n.15384+23A>G) c.15333+23A>G (n.15333+23A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.19077953T= | CA1156956055 | UBR4 | c.15324+23A= (n.15324+23A=) c.2445+23A= (n.2445+23A=) c.549+23A= (n.549+23A=) n.3331+23A= c.15477+23A= (n.15477+23A=) c.15474+23A= (n.15474+23A=) c.15462+23A= (n.15462+23A=) c.15459+23A= (n.15459+23A=) c.15453+23A= (n.15453+23A=) c.15444+23A= (n.15444+23A=) c.15393+23A= (n.15393+23A=) c.15390+23A= (n.15390+23A=) c.15357+23A= (n.15357+23A=) c.15354+23A= (n.15354+23A=) c.15321+23A= (n.15321+23A=) c.15591+23A= (n.15591+23A=) c.15588+23A= (n.15588+23A=) c.15576+23A= (n.15576+23A=) c.15573+23A= (n.15573+23A=) c.15567+23A= (n.15567+23A=) c.15558+23A= (n.15558+23A=) c.15507+23A= (n.15507+23A=) c.15504+23A= (n.15504+23A=) c.15471+23A= (n.15471+23A=) c.15468+23A= (n.15468+23A=) c.15435+23A= (n.15435+23A=) c.15570+23A= (n.15570+23A=) c.15543+23A= (n.15543+23A=) c.15489+23A= (n.15489+23A=) c.15456+23A= (n.15456+23A=) c.15432+23A= (n.15432+23A=) c.15384+23A= (n.15384+23A=) c.15333+23A= (n.15333+23A=) | |
1 | g.19077955G>A | CA645677905 | UBR4 | c.15324+21C>T (n.15324+21C>T) c.2445+21C>T (n.2445+21C>T) c.549+21C>T (n.549+21C>T) n.3331+21C>T c.15477+21C>T (n.15477+21C>T) c.15474+21C>T (n.15474+21C>T) c.15462+21C>T (n.15462+21C>T) c.15459+21C>T (n.15459+21C>T) c.15453+21C>T (n.15453+21C>T) c.15444+21C>T (n.15444+21C>T) c.15393+21C>T (n.15393+21C>T) c.15390+21C>T (n.15390+21C>T) c.15357+21C>T (n.15357+21C>T) c.15354+21C>T (n.15354+21C>T) c.15321+21C>T (n.15321+21C>T) c.15591+21C>T (n.15591+21C>T) c.15588+21C>T (n.15588+21C>T) c.15576+21C>T (n.15576+21C>T) c.15573+21C>T (n.15573+21C>T) c.15567+21C>T (n.15567+21C>T) c.15558+21C>T (n.15558+21C>T) c.15507+21C>T (n.15507+21C>T) c.15504+21C>T (n.15504+21C>T) c.15471+21C>T (n.15471+21C>T) c.15468+21C>T (n.15468+21C>T) c.15435+21C>T (n.15435+21C>T) c.15570+21C>T (n.15570+21C>T) c.15543+21C>T (n.15543+21C>T) c.15489+21C>T (n.15489+21C>T) c.15456+21C>T (n.15456+21C>T) c.15432+21C>T (n.15432+21C>T) c.15384+21C>T (n.15384+21C>T) c.15333+21C>T (n.15333+21C>T) | COSMIC |
1 | g.19077957_19077959delinsCCT | CA1156956056 | UBR4 | c.15324+17_15324+19delinsAGG (n.15324+17_15324+19delinsAGG) c.2445+17_2445+19delinsAGG (n.2445+17_2445+19delinsAGG) c.549+17_549+19delinsAGG (n.549+17_549+19delinsAGG) n.3331+17_3331+19delinsAGG c.15477+17_15477+19delinsAGG (n.15477+17_15477+19delinsAGG) c.15474+17_15474+19delinsAGG (n.15474+17_15474+19delinsAGG) c.15462+17_15462+19delinsAGG (n.15462+17_15462+19delinsAGG) c.15459+17_15459+19delinsAGG (n.15459+17_15459+19delinsAGG) c.15453+17_15453+19delinsAGG (n.15453+17_15453+19delinsAGG) c.15444+17_15444+19delinsAGG (n.15444+17_15444+19delinsAGG) c.15393+17_15393+19delinsAGG (n.15393+17_15393+19delinsAGG) c.15390+17_15390+19delinsAGG (n.15390+17_15390+19delinsAGG) c.15357+17_15357+19delinsAGG (n.15357+17_15357+19delinsAGG) c.15354+17_15354+19delinsAGG (n.15354+17_15354+19delinsAGG) c.15321+17_15321+19delinsAGG (n.15321+17_15321+19delinsAGG) c.15591+17_15591+19delinsAGG (n.15591+17_15591+19delinsAGG) c.15588+17_15588+19delinsAGG (n.15588+17_15588+19delinsAGG) c.15576+17_15576+19delinsAGG (n.15576+17_15576+19delinsAGG) c.15573+17_15573+19delinsAGG (n.15573+17_15573+19delinsAGG) c.15567+17_15567+19delinsAGG (n.15567+17_15567+19delinsAGG) c.15558+17_15558+19delinsAGG (n.15558+17_15558+19delinsAGG) c.15507+17_15507+19delinsAGG (n.15507+17_15507+19delinsAGG) c.15504+17_15504+19delinsAGG (n.15504+17_15504+19delinsAGG) c.15471+17_15471+19delinsAGG (n.15471+17_15471+19delinsAGG) c.15468+17_15468+19delinsAGG (n.15468+17_15468+19delinsAGG) c.15435+17_15435+19delinsAGG (n.15435+17_15435+19delinsAGG) c.15570+17_15570+19delinsAGG (n.15570+17_15570+19delinsAGG) c.15543+17_15543+19delinsAGG (n.15543+17_15543+19delinsAGG) c.15489+17_15489+19delinsAGG (n.15489+17_15489+19delinsAGG) c.15456+17_15456+19delinsAGG (n.15456+17_15456+19delinsAGG) c.15432+17_15432+19delinsAGG (n.15432+17_15432+19delinsAGG) c.15384+17_15384+19delinsAGG (n.15384+17_15384+19delinsAGG) c.15333+17_15333+19delinsAGG (n.15333+17_15333+19delinsAGG) | |
1 | g.19077960_19077961del | CA999227708 | UBR4 | c.15324+17_15324+18del (n.15324+17_15324+18del) c.2445+17_2445+18del (n.2445+17_2445+18del) c.549+17_549+18del (n.549+17_549+18del) n.3331+17_3331+18del c.15477+17_15477+18del (n.15477+17_15477+18del) c.15474+17_15474+18del (n.15474+17_15474+18del) c.15462+17_15462+18del (n.15462+17_15462+18del) c.15459+17_15459+18del (n.15459+17_15459+18del) c.15453+17_15453+18del (n.15453+17_15453+18del) c.15444+17_15444+18del (n.15444+17_15444+18del) c.15393+17_15393+18del (n.15393+17_15393+18del) c.15390+17_15390+18del (n.15390+17_15390+18del) c.15357+17_15357+18del (n.15357+17_15357+18del) c.15354+17_15354+18del (n.15354+17_15354+18del) c.15321+17_15321+18del (n.15321+17_15321+18del) c.15591+17_15591+18del (n.15591+17_15591+18del) c.15588+17_15588+18del (n.15588+17_15588+18del) c.15576+17_15576+18del (n.15576+17_15576+18del) c.15573+17_15573+18del (n.15573+17_15573+18del) c.15567+17_15567+18del (n.15567+17_15567+18del) c.15558+17_15558+18del (n.15558+17_15558+18del) c.15507+17_15507+18del (n.15507+17_15507+18del) c.15504+17_15504+18del (n.15504+17_15504+18del) c.15471+17_15471+18del (n.15471+17_15471+18del) c.15468+17_15468+18del (n.15468+17_15468+18del) c.15435+17_15435+18del (n.15435+17_15435+18del) c.15570+17_15570+18del (n.15570+17_15570+18del) c.15543+17_15543+18del (n.15543+17_15543+18del) c.15489+17_15489+18del (n.15489+17_15489+18del) c.15456+17_15456+18del (n.15456+17_15456+18del) c.15432+17_15432+18del (n.15432+17_15432+18del) c.15384+17_15384+18del (n.15384+17_15384+18del) c.15333+17_15333+18del (n.15333+17_15333+18del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.19077961T>C | CA647905 | UBR4 | c.15324+15A>G (n.15324+15A>G) c.2445+15A>G (n.2445+15A>G) c.549+15A>G (n.549+15A>G) n.3331+15A>G c.15477+15A>G (n.15477+15A>G) c.15474+15A>G (n.15474+15A>G) c.15462+15A>G (n.15462+15A>G) c.15459+15A>G (n.15459+15A>G) c.15453+15A>G (n.15453+15A>G) c.15444+15A>G (n.15444+15A>G) c.15393+15A>G (n.15393+15A>G) c.15390+15A>G (n.15390+15A>G) c.15357+15A>G (n.15357+15A>G) c.15354+15A>G (n.15354+15A>G) c.15321+15A>G (n.15321+15A>G) c.15591+15A>G (n.15591+15A>G) c.15588+15A>G (n.15588+15A>G) c.15576+15A>G (n.15576+15A>G) c.15573+15A>G (n.15573+15A>G) c.15567+15A>G (n.15567+15A>G) c.15558+15A>G (n.15558+15A>G) c.15507+15A>G (n.15507+15A>G) c.15504+15A>G (n.15504+15A>G) c.15471+15A>G (n.15471+15A>G) c.15468+15A>G (n.15468+15A>G) c.15435+15A>G (n.15435+15A>G) c.15570+15A>G (n.15570+15A>G) c.15543+15A>G (n.15543+15A>G) c.15489+15A>G (n.15489+15A>G) c.15456+15A>G (n.15456+15A>G) c.15432+15A>G (n.15432+15A>G) c.15384+15A>G (n.15384+15A>G) c.15333+15A>G (n.15333+15A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.19077961T= | CA1156956057 | UBR4 | c.15324+15A= (n.15324+15A=) c.2445+15A= (n.2445+15A=) c.549+15A= (n.549+15A=) n.3331+15A= c.15477+15A= (n.15477+15A=) c.15474+15A= (n.15474+15A=) c.15462+15A= (n.15462+15A=) c.15459+15A= (n.15459+15A=) c.15453+15A= (n.15453+15A=) c.15444+15A= (n.15444+15A=) c.15393+15A= (n.15393+15A=) c.15390+15A= (n.15390+15A=) c.15357+15A= (n.15357+15A=) c.15354+15A= (n.15354+15A=) c.15321+15A= (n.15321+15A=) c.15591+15A= (n.15591+15A=) c.15588+15A= (n.15588+15A=) c.15576+15A= (n.15576+15A=) c.15573+15A= (n.15573+15A=) c.15567+15A= (n.15567+15A=) c.15558+15A= (n.15558+15A=) c.15507+15A= (n.15507+15A=) c.15504+15A= (n.15504+15A=) c.15471+15A= (n.15471+15A=) c.15468+15A= (n.15468+15A=) c.15435+15A= (n.15435+15A=) c.15570+15A= (n.15570+15A=) c.15543+15A= (n.15543+15A=) c.15489+15A= (n.15489+15A=) c.15456+15A= (n.15456+15A=) c.15432+15A= (n.15432+15A=) c.15384+15A= (n.15384+15A=) c.15333+15A= (n.15333+15A=) | |
1 | g.19077965A= | CA1156956058 | UBR4 | c.15324+11T= (n.15324+11T=) c.2445+11T= (n.2445+11T=) c.549+11T= (n.549+11T=) n.3331+11T= c.15477+11T= (n.15477+11T=) c.15474+11T= (n.15474+11T=) c.15462+11T= (n.15462+11T=) c.15459+11T= (n.15459+11T=) c.15453+11T= (n.15453+11T=) c.15444+11T= (n.15444+11T=) c.15393+11T= (n.15393+11T=) c.15390+11T= (n.15390+11T=) c.15357+11T= (n.15357+11T=) c.15354+11T= (n.15354+11T=) c.15321+11T= (n.15321+11T=) c.15591+11T= (n.15591+11T=) c.15588+11T= (n.15588+11T=) c.15576+11T= (n.15576+11T=) c.15573+11T= (n.15573+11T=) c.15567+11T= (n.15567+11T=) c.15558+11T= (n.15558+11T=) c.15507+11T= (n.15507+11T=) c.15504+11T= (n.15504+11T=) c.15471+11T= (n.15471+11T=) c.15468+11T= (n.15468+11T=) c.15435+11T= (n.15435+11T=) c.15570+11T= (n.15570+11T=) c.15543+11T= (n.15543+11T=) c.15489+11T= (n.15489+11T=) c.15456+11T= (n.15456+11T=) c.15432+11T= (n.15432+11T=) c.15384+11T= (n.15384+11T=) c.15333+11T= (n.15333+11T=) | |
1 | g.19077965A>G | CA647906 | UBR4 | c.15324+11T>C (n.15324+11T>C) c.2445+11T>C (n.2445+11T>C) c.549+11T>C (n.549+11T>C) n.3331+11T>C c.15477+11T>C (n.15477+11T>C) c.15474+11T>C (n.15474+11T>C) c.15462+11T>C (n.15462+11T>C) c.15459+11T>C (n.15459+11T>C) c.15453+11T>C (n.15453+11T>C) c.15444+11T>C (n.15444+11T>C) c.15393+11T>C (n.15393+11T>C) c.15390+11T>C (n.15390+11T>C) c.15357+11T>C (n.15357+11T>C) c.15354+11T>C (n.15354+11T>C) c.15321+11T>C (n.15321+11T>C) c.15591+11T>C (n.15591+11T>C) c.15588+11T>C (n.15588+11T>C) c.15576+11T>C (n.15576+11T>C) c.15573+11T>C (n.15573+11T>C) c.15567+11T>C (n.15567+11T>C) c.15558+11T>C (n.15558+11T>C) c.15507+11T>C (n.15507+11T>C) c.15504+11T>C (n.15504+11T>C) c.15471+11T>C (n.15471+11T>C) c.15468+11T>C (n.15468+11T>C) c.15435+11T>C (n.15435+11T>C) c.15570+11T>C (n.15570+11T>C) c.15543+11T>C (n.15543+11T>C) c.15489+11T>C (n.15489+11T>C) c.15456+11T>C (n.15456+11T>C) c.15432+11T>C (n.15432+11T>C) c.15384+11T>C (n.15384+11T>C) c.15333+11T>C (n.15333+11T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.19077966G>A | CA2643751400 | UBR4 | c.15324+10C>T (n.15324+10C>T) c.2445+10C>T (n.2445+10C>T) c.549+10C>T (n.549+10C>T) n.3331+10C>T c.15477+10C>T (n.15477+10C>T) c.15474+10C>T (n.15474+10C>T) c.15462+10C>T (n.15462+10C>T) c.15459+10C>T (n.15459+10C>T) c.15453+10C>T (n.15453+10C>T) c.15444+10C>T (n.15444+10C>T) c.15393+10C>T (n.15393+10C>T) c.15390+10C>T (n.15390+10C>T) c.15357+10C>T (n.15357+10C>T) c.15354+10C>T (n.15354+10C>T) c.15321+10C>T (n.15321+10C>T) c.15591+10C>T (n.15591+10C>T) c.15588+10C>T (n.15588+10C>T) c.15576+10C>T (n.15576+10C>T) c.15573+10C>T (n.15573+10C>T) c.15567+10C>T (n.15567+10C>T) c.15558+10C>T (n.15558+10C>T) c.15507+10C>T (n.15507+10C>T) c.15504+10C>T (n.15504+10C>T) c.15471+10C>T (n.15471+10C>T) c.15468+10C>T (n.15468+10C>T) c.15435+10C>T (n.15435+10C>T) c.15570+10C>T (n.15570+10C>T) c.15543+10C>T (n.15543+10C>T) c.15489+10C>T (n.15489+10C>T) c.15456+10C>T (n.15456+10C>T) c.15432+10C>T (n.15432+10C>T) c.15384+10C>T (n.15384+10C>T) c.15333+10C>T (n.15333+10C>T) | gnomAD v4 |
1 | g.19077966G>C | CA2643751401 | UBR4 | c.15324+10C>G (n.15324+10C>G) c.2445+10C>G (n.2445+10C>G) c.549+10C>G (n.549+10C>G) n.3331+10C>G c.15477+10C>G (n.15477+10C>G) c.15474+10C>G (n.15474+10C>G) c.15462+10C>G (n.15462+10C>G) c.15459+10C>G (n.15459+10C>G) c.15453+10C>G (n.15453+10C>G) c.15444+10C>G (n.15444+10C>G) c.15393+10C>G (n.15393+10C>G) c.15390+10C>G (n.15390+10C>G) c.15357+10C>G (n.15357+10C>G) c.15354+10C>G (n.15354+10C>G) c.15321+10C>G (n.15321+10C>G) c.15591+10C>G (n.15591+10C>G) c.15588+10C>G (n.15588+10C>G) c.15576+10C>G (n.15576+10C>G) c.15573+10C>G (n.15573+10C>G) c.15567+10C>G (n.15567+10C>G) c.15558+10C>G (n.15558+10C>G) c.15507+10C>G (n.15507+10C>G) c.15504+10C>G (n.15504+10C>G) c.15471+10C>G (n.15471+10C>G) c.15468+10C>G (n.15468+10C>G) c.15435+10C>G (n.15435+10C>G) c.15570+10C>G (n.15570+10C>G) c.15543+10C>G (n.15543+10C>G) c.15489+10C>G (n.15489+10C>G) c.15456+10C>G (n.15456+10C>G) c.15432+10C>G (n.15432+10C>G) c.15384+10C>G (n.15384+10C>G) c.15333+10C>G (n.15333+10C>G) | gnomAD v4 |
1 | g.19077967C>A | CA2643751402 | UBR4 | c.15324+9G>T (n.15324+9G>T) c.2445+9G>T (n.2445+9G>T) c.549+9G>T (n.549+9G>T) n.3331+9G>T c.15477+9G>T (n.15477+9G>T) c.15474+9G>T (n.15474+9G>T) c.15462+9G>T (n.15462+9G>T) c.15459+9G>T (n.15459+9G>T) c.15453+9G>T (n.15453+9G>T) c.15444+9G>T (n.15444+9G>T) c.15393+9G>T (n.15393+9G>T) c.15390+9G>T (n.15390+9G>T) c.15357+9G>T (n.15357+9G>T) c.15354+9G>T (n.15354+9G>T) c.15321+9G>T (n.15321+9G>T) c.15591+9G>T (n.15591+9G>T) c.15588+9G>T (n.15588+9G>T) c.15576+9G>T (n.15576+9G>T) c.15573+9G>T (n.15573+9G>T) c.15567+9G>T (n.15567+9G>T) c.15558+9G>T (n.15558+9G>T) c.15507+9G>T (n.15507+9G>T) c.15504+9G>T (n.15504+9G>T) c.15471+9G>T (n.15471+9G>T) c.15468+9G>T (n.15468+9G>T) c.15435+9G>T (n.15435+9G>T) c.15570+9G>T (n.15570+9G>T) c.15543+9G>T (n.15543+9G>T) c.15489+9G>T (n.15489+9G>T) c.15456+9G>T (n.15456+9G>T) c.15432+9G>T (n.15432+9G>T) c.15384+9G>T (n.15384+9G>T) c.15333+9G>T (n.15333+9G>T) | gnomAD v4 |
1 | g.19077971C= | CA1156956059 | UBR4 | c.15324+5G= (n.15324+5G=) c.2445+5G= (n.2445+5G=) c.549+5G= (n.549+5G=) n.3331+5G= c.15477+5G= (n.15477+5G=) c.15474+5G= (n.15474+5G=) c.15462+5G= (n.15462+5G=) c.15459+5G= (n.15459+5G=) c.15453+5G= (n.15453+5G=) c.15444+5G= (n.15444+5G=) c.15393+5G= (n.15393+5G=) c.15390+5G= (n.15390+5G=) c.15357+5G= (n.15357+5G=) c.15354+5G= (n.15354+5G=) c.15321+5G= (n.15321+5G=) c.15591+5G= (n.15591+5G=) c.15588+5G= (n.15588+5G=) c.15576+5G= (n.15576+5G=) c.15573+5G= (n.15573+5G=) c.15567+5G= (n.15567+5G=) c.15558+5G= (n.15558+5G=) c.15507+5G= (n.15507+5G=) c.15504+5G= (n.15504+5G=) c.15471+5G= (n.15471+5G=) c.15468+5G= (n.15468+5G=) c.15435+5G= (n.15435+5G=) c.15570+5G= (n.15570+5G=) c.15543+5G= (n.15543+5G=) c.15489+5G= (n.15489+5G=) c.15456+5G= (n.15456+5G=) c.15432+5G= (n.15432+5G=) c.15384+5G= (n.15384+5G=) c.15333+5G= (n.15333+5G=) | |
1 | g.19077971C>T | CA647907 | UBR4 | c.15324+5G>A (n.15324+5G>A) c.2445+5G>A (n.2445+5G>A) c.549+5G>A (n.549+5G>A) n.3331+5G>A c.15477+5G>A (n.15477+5G>A) c.15474+5G>A (n.15474+5G>A) c.15462+5G>A (n.15462+5G>A) c.15459+5G>A (n.15459+5G>A) c.15453+5G>A (n.15453+5G>A) c.15444+5G>A (n.15444+5G>A) c.15393+5G>A (n.15393+5G>A) c.15390+5G>A (n.15390+5G>A) c.15357+5G>A (n.15357+5G>A) c.15354+5G>A (n.15354+5G>A) c.15321+5G>A (n.15321+5G>A) c.15591+5G>A (n.15591+5G>A) c.15588+5G>A (n.15588+5G>A) c.15576+5G>A (n.15576+5G>A) c.15573+5G>A (n.15573+5G>A) c.15567+5G>A (n.15567+5G>A) c.15558+5G>A (n.15558+5G>A) c.15507+5G>A (n.15507+5G>A) c.15504+5G>A (n.15504+5G>A) c.15471+5G>A (n.15471+5G>A) c.15468+5G>A (n.15468+5G>A) c.15435+5G>A (n.15435+5G>A) c.15570+5G>A (n.15570+5G>A) c.15543+5G>A (n.15543+5G>A) c.15489+5G>A (n.15489+5G>A) c.15456+5G>A (n.15456+5G>A) c.15432+5G>A (n.15432+5G>A) c.15384+5G>A (n.15384+5G>A) c.15333+5G>A (n.15333+5G>A) | dbSNP ExAC gnomAD v2 |
1 | g.19077973dup | CA18791028 | UBR4 | c.15324+4dup (n.15324+4dup) c.2445+4dup (n.2445+4dup) c.549+4dup (n.549+4dup) n.3331+4dup c.15477+4dup (n.15477+4dup) c.15474+4dup (n.15474+4dup) c.15462+4dup (n.15462+4dup) c.15459+4dup (n.15459+4dup) c.15453+4dup (n.15453+4dup) c.15444+4dup (n.15444+4dup) c.15393+4dup (n.15393+4dup) c.15390+4dup (n.15390+4dup) c.15357+4dup (n.15357+4dup) c.15354+4dup (n.15354+4dup) c.15321+4dup (n.15321+4dup) c.15591+4dup (n.15591+4dup) c.15588+4dup (n.15588+4dup) c.15576+4dup (n.15576+4dup) c.15573+4dup (n.15573+4dup) c.15567+4dup (n.15567+4dup) c.15558+4dup (n.15558+4dup) c.15507+4dup (n.15507+4dup) c.15504+4dup (n.15504+4dup) c.15471+4dup (n.15471+4dup) c.15468+4dup (n.15468+4dup) c.15435+4dup (n.15435+4dup) c.15570+4dup (n.15570+4dup) c.15543+4dup (n.15543+4dup) c.15489+4dup (n.15489+4dup) c.15456+4dup (n.15456+4dup) c.15432+4dup (n.15432+4dup) c.15384+4dup (n.15384+4dup) c.15333+4dup (n.15333+4dup) | dbSNP |
1 | g.19077973T>C | CA1156956060 | UBR4 | c.15324+3A>G (n.15324+3A>G) c.2445+3A>G (n.2445+3A>G) c.549+3A>G (n.549+3A>G) n.3331+3A>G c.15477+3A>G (n.15477+3A>G) c.15474+3A>G (n.15474+3A>G) c.15462+3A>G (n.15462+3A>G) c.15459+3A>G (n.15459+3A>G) c.15453+3A>G (n.15453+3A>G) c.15444+3A>G (n.15444+3A>G) c.15393+3A>G (n.15393+3A>G) c.15390+3A>G (n.15390+3A>G) c.15357+3A>G (n.15357+3A>G) c.15354+3A>G (n.15354+3A>G) c.15321+3A>G (n.15321+3A>G) c.15591+3A>G (n.15591+3A>G) c.15588+3A>G (n.15588+3A>G) c.15576+3A>G (n.15576+3A>G) c.15573+3A>G (n.15573+3A>G) c.15567+3A>G (n.15567+3A>G) c.15558+3A>G (n.15558+3A>G) c.15507+3A>G (n.15507+3A>G) c.15504+3A>G (n.15504+3A>G) c.15471+3A>G (n.15471+3A>G) c.15468+3A>G (n.15468+3A>G) c.15435+3A>G (n.15435+3A>G) c.15570+3A>G (n.15570+3A>G) c.15543+3A>G (n.15543+3A>G) c.15489+3A>G (n.15489+3A>G) c.15456+3A>G (n.15456+3A>G) c.15432+3A>G (n.15432+3A>G) c.15384+3A>G (n.15384+3A>G) c.15333+3A>G (n.15333+3A>G) | dbSNP gnomAD v4 |
1 | g.19077973T= | CA1156956061 | UBR4 | c.15324+3A= (n.15324+3A=) c.2445+3A= (n.2445+3A=) c.549+3A= (n.549+3A=) n.3331+3A= c.15477+3A= (n.15477+3A=) c.15474+3A= (n.15474+3A=) c.15462+3A= (n.15462+3A=) c.15459+3A= (n.15459+3A=) c.15453+3A= (n.15453+3A=) c.15444+3A= (n.15444+3A=) c.15393+3A= (n.15393+3A=) c.15390+3A= (n.15390+3A=) c.15357+3A= (n.15357+3A=) c.15354+3A= (n.15354+3A=) c.15321+3A= (n.15321+3A=) c.15591+3A= (n.15591+3A=) c.15588+3A= (n.15588+3A=) c.15576+3A= (n.15576+3A=) c.15573+3A= (n.15573+3A=) c.15567+3A= (n.15567+3A=) c.15558+3A= (n.15558+3A=) c.15507+3A= (n.15507+3A=) c.15504+3A= (n.15504+3A=) c.15471+3A= (n.15471+3A=) c.15468+3A= (n.15468+3A=) c.15435+3A= (n.15435+3A=) c.15570+3A= (n.15570+3A=) c.15543+3A= (n.15543+3A=) c.15489+3A= (n.15489+3A=) c.15456+3A= (n.15456+3A=) c.15432+3A= (n.15432+3A=) c.15384+3A= (n.15384+3A=) c.15333+3A= (n.15333+3A=) | |
1 | g.19077974A>C | CA338748014 | UBR4 | c.15324+2T>G (n.15324+2T>G) c.2445+2T>G (n.2445+2T>G) c.549+2T>G (n.549+2T>G) n.3331+2T>G c.15477+2T>G (n.15477+2T>G) c.15474+2T>G (n.15474+2T>G) c.15462+2T>G (n.15462+2T>G) c.15459+2T>G (n.15459+2T>G) c.15453+2T>G (n.15453+2T>G) c.15444+2T>G (n.15444+2T>G) c.15393+2T>G (n.15393+2T>G) c.15390+2T>G (n.15390+2T>G) c.15357+2T>G (n.15357+2T>G) c.15354+2T>G (n.15354+2T>G) c.15321+2T>G (n.15321+2T>G) c.15591+2T>G (n.15591+2T>G) c.15588+2T>G (n.15588+2T>G) c.15576+2T>G (n.15576+2T>G) c.15573+2T>G (n.15573+2T>G) c.15567+2T>G (n.15567+2T>G) c.15558+2T>G (n.15558+2T>G) c.15507+2T>G (n.15507+2T>G) c.15504+2T>G (n.15504+2T>G) c.15471+2T>G (n.15471+2T>G) c.15468+2T>G (n.15468+2T>G) c.15435+2T>G (n.15435+2T>G) c.15570+2T>G (n.15570+2T>G) c.15543+2T>G (n.15543+2T>G) c.15489+2T>G (n.15489+2T>G) c.15456+2T>G (n.15456+2T>G) c.15432+2T>G (n.15432+2T>G) c.15384+2T>G (n.15384+2T>G) c.15333+2T>G (n.15333+2T>G) | |
1 | g.19077974A>G | CA338748018 | UBR4 | c.15324+2T>C (n.15324+2T>C) c.2445+2T>C (n.2445+2T>C) c.549+2T>C (n.549+2T>C) n.3331+2T>C c.15477+2T>C (n.15477+2T>C) c.15474+2T>C (n.15474+2T>C) c.15462+2T>C (n.15462+2T>C) c.15459+2T>C (n.15459+2T>C) c.15453+2T>C (n.15453+2T>C) c.15444+2T>C (n.15444+2T>C) c.15393+2T>C (n.15393+2T>C) c.15390+2T>C (n.15390+2T>C) c.15357+2T>C (n.15357+2T>C) c.15354+2T>C (n.15354+2T>C) c.15321+2T>C (n.15321+2T>C) c.15591+2T>C (n.15591+2T>C) c.15588+2T>C (n.15588+2T>C) c.15576+2T>C (n.15576+2T>C) c.15573+2T>C (n.15573+2T>C) c.15567+2T>C (n.15567+2T>C) c.15558+2T>C (n.15558+2T>C) c.15507+2T>C (n.15507+2T>C) c.15504+2T>C (n.15504+2T>C) c.15471+2T>C (n.15471+2T>C) c.15468+2T>C (n.15468+2T>C) c.15435+2T>C (n.15435+2T>C) c.15570+2T>C (n.15570+2T>C) c.15543+2T>C (n.15543+2T>C) c.15489+2T>C (n.15489+2T>C) c.15456+2T>C (n.15456+2T>C) c.15432+2T>C (n.15432+2T>C) c.15384+2T>C (n.15384+2T>C) c.15333+2T>C (n.15333+2T>C) | |
1 | g.19077974A>T | CA338748016 | UBR4 | c.15324+2T>A (n.15324+2T>A) c.2445+2T>A (n.2445+2T>A) c.549+2T>A (n.549+2T>A) n.3331+2T>A c.15477+2T>A (n.15477+2T>A) c.15474+2T>A (n.15474+2T>A) c.15462+2T>A (n.15462+2T>A) c.15459+2T>A (n.15459+2T>A) c.15453+2T>A (n.15453+2T>A) c.15444+2T>A (n.15444+2T>A) c.15393+2T>A (n.15393+2T>A) c.15390+2T>A (n.15390+2T>A) c.15357+2T>A (n.15357+2T>A) c.15354+2T>A (n.15354+2T>A) c.15321+2T>A (n.15321+2T>A) c.15591+2T>A (n.15591+2T>A) c.15588+2T>A (n.15588+2T>A) c.15576+2T>A (n.15576+2T>A) c.15573+2T>A (n.15573+2T>A) c.15567+2T>A (n.15567+2T>A) c.15558+2T>A (n.15558+2T>A) c.15507+2T>A (n.15507+2T>A) c.15504+2T>A (n.15504+2T>A) c.15471+2T>A (n.15471+2T>A) c.15468+2T>A (n.15468+2T>A) c.15435+2T>A (n.15435+2T>A) c.15570+2T>A (n.15570+2T>A) c.15543+2T>A (n.15543+2T>A) c.15489+2T>A (n.15489+2T>A) c.15456+2T>A (n.15456+2T>A) c.15432+2T>A (n.15432+2T>A) c.15384+2T>A (n.15384+2T>A) c.15333+2T>A (n.15333+2T>A) | |
1 | g.19077975C>A | CA338748020 | UBR4 | c.15324+1G>T (n.15324+1G>T) c.2445+1G>T (n.2445+1G>T) c.549+1G>T (n.549+1G>T) n.3331+1G>T c.15477+1G>T (n.15477+1G>T) c.15474+1G>T (n.15474+1G>T) c.15462+1G>T (n.15462+1G>T) c.15459+1G>T (n.15459+1G>T) c.15453+1G>T (n.15453+1G>T) c.15444+1G>T (n.15444+1G>T) c.15393+1G>T (n.15393+1G>T) c.15390+1G>T (n.15390+1G>T) c.15357+1G>T (n.15357+1G>T) c.15354+1G>T (n.15354+1G>T) c.15321+1G>T (n.15321+1G>T) c.15591+1G>T (n.15591+1G>T) c.15588+1G>T (n.15588+1G>T) c.15576+1G>T (n.15576+1G>T) c.15573+1G>T (n.15573+1G>T) c.15567+1G>T (n.15567+1G>T) c.15558+1G>T (n.15558+1G>T) c.15507+1G>T (n.15507+1G>T) c.15504+1G>T (n.15504+1G>T) c.15471+1G>T (n.15471+1G>T) c.15468+1G>T (n.15468+1G>T) c.15435+1G>T (n.15435+1G>T) c.15570+1G>T (n.15570+1G>T) c.15543+1G>T (n.15543+1G>T) c.15489+1G>T (n.15489+1G>T) c.15456+1G>T (n.15456+1G>T) c.15432+1G>T (n.15432+1G>T) c.15384+1G>T (n.15384+1G>T) c.15333+1G>T (n.15333+1G>T) | gnomAD v4 |
1 | g.19077975C>G | CA338748022 | UBR4 | c.15324+1G>C (n.15324+1G>C) c.2445+1G>C (n.2445+1G>C) c.549+1G>C (n.549+1G>C) n.3331+1G>C c.15477+1G>C (n.15477+1G>C) c.15474+1G>C (n.15474+1G>C) c.15462+1G>C (n.15462+1G>C) c.15459+1G>C (n.15459+1G>C) c.15453+1G>C (n.15453+1G>C) c.15444+1G>C (n.15444+1G>C) c.15393+1G>C (n.15393+1G>C) c.15390+1G>C (n.15390+1G>C) c.15357+1G>C (n.15357+1G>C) c.15354+1G>C (n.15354+1G>C) c.15321+1G>C (n.15321+1G>C) c.15591+1G>C (n.15591+1G>C) c.15588+1G>C (n.15588+1G>C) c.15576+1G>C (n.15576+1G>C) c.15573+1G>C (n.15573+1G>C) c.15567+1G>C (n.15567+1G>C) c.15558+1G>C (n.15558+1G>C) c.15507+1G>C (n.15507+1G>C) c.15504+1G>C (n.15504+1G>C) c.15471+1G>C (n.15471+1G>C) c.15468+1G>C (n.15468+1G>C) c.15435+1G>C (n.15435+1G>C) c.15570+1G>C (n.15570+1G>C) c.15543+1G>C (n.15543+1G>C) c.15489+1G>C (n.15489+1G>C) c.15456+1G>C (n.15456+1G>C) c.15432+1G>C (n.15432+1G>C) c.15384+1G>C (n.15384+1G>C) c.15333+1G>C (n.15333+1G>C) | |
1 | g.19077975C>T | CA338748023 | UBR4 | c.15324+1G>A (n.15324+1G>A) c.2445+1G>A (n.2445+1G>A) c.549+1G>A (n.549+1G>A) n.3331+1G>A c.15477+1G>A (n.15477+1G>A) c.15474+1G>A (n.15474+1G>A) c.15462+1G>A (n.15462+1G>A) c.15459+1G>A (n.15459+1G>A) c.15453+1G>A (n.15453+1G>A) c.15444+1G>A (n.15444+1G>A) c.15393+1G>A (n.15393+1G>A) c.15390+1G>A (n.15390+1G>A) c.15357+1G>A (n.15357+1G>A) c.15354+1G>A (n.15354+1G>A) c.15321+1G>A (n.15321+1G>A) c.15591+1G>A (n.15591+1G>A) c.15588+1G>A (n.15588+1G>A) c.15576+1G>A (n.15576+1G>A) c.15573+1G>A (n.15573+1G>A) c.15567+1G>A (n.15567+1G>A) c.15558+1G>A (n.15558+1G>A) c.15507+1G>A (n.15507+1G>A) c.15504+1G>A (n.15504+1G>A) c.15471+1G>A (n.15471+1G>A) c.15468+1G>A (n.15468+1G>A) c.15435+1G>A (n.15435+1G>A) c.15570+1G>A (n.15570+1G>A) c.15543+1G>A (n.15543+1G>A) c.15489+1G>A (n.15489+1G>A) c.15456+1G>A (n.15456+1G>A) c.15432+1G>A (n.15432+1G>A) c.15384+1G>A (n.15384+1G>A) c.15333+1G>A (n.15333+1G>A) | |
1 | g.19077976C>A | CA338748026 | UBR4 | c.15324G>T (p.Lys5108Asn) c.2445G>T (p.Lys815Asn) c.549G>T (p.Lys183Asn) n.3331G>T c.15477G>T (p.Lys5159Asn) c.15474G>T (p.Lys5158Asn) c.15462G>T (p.Lys5154Asn) c.15459G>T (p.Lys5153Asn) c.15453G>T (p.Lys5151Asn) c.15444G>T (p.Lys5148Asn) c.15393G>T (p.Lys5131Asn) c.15390G>T (p.Lys5130Asn) c.15357G>T (p.Lys5119Asn) c.15354G>T (p.Lys5118Asn) c.15321G>T (p.Lys5107Asn) c.15591G>T (p.Lys5197Asn) c.15588G>T (p.Lys5196Asn) c.15576G>T (p.Lys5192Asn) c.15573G>T (p.Lys5191Asn) c.15567G>T (p.Lys5189Asn) c.15558G>T (p.Lys5186Asn) c.15507G>T (p.Lys5169Asn) c.15504G>T (p.Lys5168Asn) c.15471G>T (p.Lys5157Asn) c.15468G>T (p.Lys5156Asn) c.15435G>T (p.Lys5145Asn) c.15570G>T (p.Lys5190Asn) c.15543G>T (p.Lys5181Asn) c.15489G>T (p.Lys5163Asn) c.15456G>T (p.Lys5152Asn) c.15432G>T (p.Lys5144Asn) c.15384G>T (p.Lys5128Asn) c.15333G>T (p.Lys5111Asn) | |
1 | g.19077976C>G | CA338748027 | UBR4 | c.15324G>C (p.Lys5108Asn) c.2445G>C (p.Lys815Asn) c.549G>C (p.Lys183Asn) n.3331G>C c.15477G>C (p.Lys5159Asn) c.15474G>C (p.Lys5158Asn) c.15462G>C (p.Lys5154Asn) c.15459G>C (p.Lys5153Asn) c.15453G>C (p.Lys5151Asn) c.15444G>C (p.Lys5148Asn) c.15393G>C (p.Lys5131Asn) c.15390G>C (p.Lys5130Asn) c.15357G>C (p.Lys5119Asn) c.15354G>C (p.Lys5118Asn) c.15321G>C (p.Lys5107Asn) c.15591G>C (p.Lys5197Asn) c.15588G>C (p.Lys5196Asn) c.15576G>C (p.Lys5192Asn) c.15573G>C (p.Lys5191Asn) c.15567G>C (p.Lys5189Asn) c.15558G>C (p.Lys5186Asn) c.15507G>C (p.Lys5169Asn) c.15504G>C (p.Lys5168Asn) c.15471G>C (p.Lys5157Asn) c.15468G>C (p.Lys5156Asn) c.15435G>C (p.Lys5145Asn) c.15570G>C (p.Lys5190Asn) c.15543G>C (p.Lys5181Asn) c.15489G>C (p.Lys5163Asn) c.15456G>C (p.Lys5152Asn) c.15432G>C (p.Lys5144Asn) c.15384G>C (p.Lys5128Asn) c.15333G>C (p.Lys5111Asn) | |
1 | g.19077976C>T | CA416452962 | UBR4 | c.15324G>A (p.Lys5108=) c.2445G>A (p.Lys815=) c.549G>A (p.Lys183=) n.3331G>A c.15477G>A (p.Lys5159=) c.15474G>A (p.Lys5158=) c.15462G>A (p.Lys5154=) c.15459G>A (p.Lys5153=) c.15453G>A (p.Lys5151=) c.15444G>A (p.Lys5148=) c.15393G>A (p.Lys5131=) c.15390G>A (p.Lys5130=) c.15357G>A (p.Lys5119=) c.15354G>A (p.Lys5118=) c.15321G>A (p.Lys5107=) c.15591G>A (p.Lys5197=) c.15588G>A (p.Lys5196=) c.15576G>A (p.Lys5192=) c.15573G>A (p.Lys5191=) c.15567G>A (p.Lys5189=) c.15558G>A (p.Lys5186=) c.15507G>A (p.Lys5169=) c.15504G>A (p.Lys5168=) c.15471G>A (p.Lys5157=) c.15468G>A (p.Lys5156=) c.15435G>A (p.Lys5145=) c.15570G>A (p.Lys5190=) c.15543G>A (p.Lys5181=) c.15489G>A (p.Lys5163=) c.15456G>A (p.Lys5152=) c.15432G>A (p.Lys5144=) c.15384G>A (p.Lys5128=) c.15333G>A (p.Lys5111=) | |
1 | g.19077977T>A | CA338748030 | UBR4 | c.15323A>T (p.Lys5108Met) c.2444A>T (p.Lys815Met) c.548A>T (p.Lys183Met) n.3330A>T c.15476A>T (p.Lys5159Met) c.15473A>T (p.Lys5158Met) c.15461A>T (p.Lys5154Met) c.15458A>T (p.Lys5153Met) c.15452A>T (p.Lys5151Met) c.15443A>T (p.Lys5148Met) c.15392A>T (p.Lys5131Met) c.15389A>T (p.Lys5130Met) c.15356A>T (p.Lys5119Met) c.15353A>T (p.Lys5118Met) c.15320A>T (p.Lys5107Met) c.15590A>T (p.Lys5197Met) c.15587A>T (p.Lys5196Met) c.15575A>T (p.Lys5192Met) c.15572A>T (p.Lys5191Met) c.15566A>T (p.Lys5189Met) c.15557A>T (p.Lys5186Met) c.15506A>T (p.Lys5169Met) c.15503A>T (p.Lys5168Met) c.15470A>T (p.Lys5157Met) c.15467A>T (p.Lys5156Met) c.15434A>T (p.Lys5145Met) c.15569A>T (p.Lys5190Met) c.15542A>T (p.Lys5181Met) c.15488A>T (p.Lys5163Met) c.15455A>T (p.Lys5152Met) c.15431A>T (p.Lys5144Met) c.15383A>T (p.Lys5128Met) c.15332A>T (p.Lys5111Met) | |
1 | g.19077977T>C | CA338748032 | UBR4 | c.15323A>G (p.Lys5108Arg) c.2444A>G (p.Lys815Arg) c.548A>G (p.Lys183Arg) n.3330A>G c.15476A>G (p.Lys5159Arg) c.15473A>G (p.Lys5158Arg) c.15461A>G (p.Lys5154Arg) c.15458A>G (p.Lys5153Arg) c.15452A>G (p.Lys5151Arg) c.15443A>G (p.Lys5148Arg) c.15392A>G (p.Lys5131Arg) c.15389A>G (p.Lys5130Arg) c.15356A>G (p.Lys5119Arg) c.15353A>G (p.Lys5118Arg) c.15320A>G (p.Lys5107Arg) c.15590A>G (p.Lys5197Arg) c.15587A>G (p.Lys5196Arg) c.15575A>G (p.Lys5192Arg) c.15572A>G (p.Lys5191Arg) c.15566A>G (p.Lys5189Arg) c.15557A>G (p.Lys5186Arg) c.15506A>G (p.Lys5169Arg) c.15503A>G (p.Lys5168Arg) c.15470A>G (p.Lys5157Arg) c.15467A>G (p.Lys5156Arg) c.15434A>G (p.Lys5145Arg) c.15569A>G (p.Lys5190Arg) c.15542A>G (p.Lys5181Arg) c.15488A>G (p.Lys5163Arg) c.15455A>G (p.Lys5152Arg) c.15431A>G (p.Lys5144Arg) c.15383A>G (p.Lys5128Arg) c.15332A>G (p.Lys5111Arg) | |
1 | g.19077977T>G | CA338748034 | UBR4 | c.15323A>C (p.Lys5108Thr) c.2444A>C (p.Lys815Thr) c.548A>C (p.Lys183Thr) n.3330A>C c.15476A>C (p.Lys5159Thr) c.15473A>C (p.Lys5158Thr) c.15461A>C (p.Lys5154Thr) c.15458A>C (p.Lys5153Thr) c.15452A>C (p.Lys5151Thr) c.15443A>C (p.Lys5148Thr) c.15392A>C (p.Lys5131Thr) c.15389A>C (p.Lys5130Thr) c.15356A>C (p.Lys5119Thr) c.15353A>C (p.Lys5118Thr) c.15320A>C (p.Lys5107Thr) c.15590A>C (p.Lys5197Thr) c.15587A>C (p.Lys5196Thr) c.15575A>C (p.Lys5192Thr) c.15572A>C (p.Lys5191Thr) c.15566A>C (p.Lys5189Thr) c.15557A>C (p.Lys5186Thr) c.15506A>C (p.Lys5169Thr) c.15503A>C (p.Lys5168Thr) c.15470A>C (p.Lys5157Thr) c.15467A>C (p.Lys5156Thr) c.15434A>C (p.Lys5145Thr) c.15569A>C (p.Lys5190Thr) c.15542A>C (p.Lys5181Thr) c.15488A>C (p.Lys5163Thr) c.15455A>C (p.Lys5152Thr) c.15431A>C (p.Lys5144Thr) c.15383A>C (p.Lys5128Thr) c.15332A>C (p.Lys5111Thr) | COSMIC COSMIC COSMIC COSMIC |
1 | g.19077978T>A | CA338748036 | UBR4 | c.15322A>T (p.Lys5108Ter) c.2443A>T (p.Lys815Ter) c.547A>T (p.Lys183Ter) n.3329A>T c.15475A>T (p.Lys5159Ter) c.15472A>T (p.Lys5158Ter) c.15460A>T (p.Lys5154Ter) c.15457A>T (p.Lys5153Ter) c.15451A>T (p.Lys5151Ter) c.15442A>T (p.Lys5148Ter) c.15391A>T (p.Lys5131Ter) c.15388A>T (p.Lys5130Ter) c.15355A>T (p.Lys5119Ter) c.15352A>T (p.Lys5118Ter) c.15319A>T (p.Lys5107Ter) c.15589A>T (p.Lys5197Ter) c.15586A>T (p.Lys5196Ter) c.15574A>T (p.Lys5192Ter) c.15571A>T (p.Lys5191Ter) c.15565A>T (p.Lys5189Ter) c.15556A>T (p.Lys5186Ter) c.15505A>T (p.Lys5169Ter) c.15502A>T (p.Lys5168Ter) c.15469A>T (p.Lys5157Ter) c.15466A>T (p.Lys5156Ter) c.15433A>T (p.Lys5145Ter) c.15568A>T (p.Lys5190Ter) c.15541A>T (p.Lys5181Ter) c.15487A>T (p.Lys5163Ter) c.15454A>T (p.Lys5152Ter) c.15430A>T (p.Lys5144Ter) c.15382A>T (p.Lys5128Ter) c.15331A>T (p.Lys5111Ter) | |
1 | g.19077978T>C | CA338748038 | UBR4 | c.15322A>G (p.Lys5108Glu) c.2443A>G (p.Lys815Glu) c.547A>G (p.Lys183Glu) n.3329A>G c.15475A>G (p.Lys5159Glu) c.15472A>G (p.Lys5158Glu) c.15460A>G (p.Lys5154Glu) c.15457A>G (p.Lys5153Glu) c.15451A>G (p.Lys5151Glu) c.15442A>G (p.Lys5148Glu) c.15391A>G (p.Lys5131Glu) c.15388A>G (p.Lys5130Glu) c.15355A>G (p.Lys5119Glu) c.15352A>G (p.Lys5118Glu) c.15319A>G (p.Lys5107Glu) c.15589A>G (p.Lys5197Glu) c.15586A>G (p.Lys5196Glu) c.15574A>G (p.Lys5192Glu) c.15571A>G (p.Lys5191Glu) c.15565A>G (p.Lys5189Glu) c.15556A>G (p.Lys5186Glu) c.15505A>G (p.Lys5169Glu) c.15502A>G (p.Lys5168Glu) c.15469A>G (p.Lys5157Glu) c.15466A>G (p.Lys5156Glu) c.15433A>G (p.Lys5145Glu) c.15568A>G (p.Lys5190Glu) c.15541A>G (p.Lys5181Glu) c.15487A>G (p.Lys5163Glu) c.15454A>G (p.Lys5152Glu) c.15430A>G (p.Lys5144Glu) c.15382A>G (p.Lys5128Glu) c.15331A>G (p.Lys5111Glu) | |
1 | g.19077978T>G | CA338748039 | UBR4 | c.15322A>C (p.Lys5108Gln) c.2443A>C (p.Lys815Gln) c.547A>C (p.Lys183Gln) n.3329A>C c.15475A>C (p.Lys5159Gln) c.15472A>C (p.Lys5158Gln) c.15460A>C (p.Lys5154Gln) c.15457A>C (p.Lys5153Gln) c.15451A>C (p.Lys5151Gln) c.15442A>C (p.Lys5148Gln) c.15391A>C (p.Lys5131Gln) c.15388A>C (p.Lys5130Gln) c.15355A>C (p.Lys5119Gln) c.15352A>C (p.Lys5118Gln) c.15319A>C (p.Lys5107Gln) c.15589A>C (p.Lys5197Gln) c.15586A>C (p.Lys5196Gln) c.15574A>C (p.Lys5192Gln) c.15571A>C (p.Lys5191Gln) c.15565A>C (p.Lys5189Gln) c.15556A>C (p.Lys5186Gln) c.15505A>C (p.Lys5169Gln) c.15502A>C (p.Lys5168Gln) c.15469A>C (p.Lys5157Gln) c.15466A>C (p.Lys5156Gln) c.15433A>C (p.Lys5145Gln) c.15568A>C (p.Lys5190Gln) c.15541A>C (p.Lys5181Gln) c.15487A>C (p.Lys5163Gln) c.15454A>C (p.Lys5152Gln) c.15430A>C (p.Lys5144Gln) c.15382A>C (p.Lys5128Gln) c.15331A>C (p.Lys5111Gln) | |
1 | g.19077979A>C | CA338748041 | UBR4 | c.15321T>G (p.Phe5107Leu) c.2442T>G (p.Phe814Leu) c.546T>G (p.Phe182Leu) n.3328T>G c.15474T>G (p.Phe5158Leu) c.15471T>G (p.Phe5157Leu) c.15459T>G (p.Phe5153Leu) c.15456T>G (p.Phe5152Leu) c.15450T>G (p.Phe5150Leu) c.15441T>G (p.Phe5147Leu) c.15390T>G (p.Phe5130Leu) c.15387T>G (p.Phe5129Leu) c.15354T>G (p.Phe5118Leu) c.15351T>G (p.Phe5117Leu) c.15318T>G (p.Phe5106Leu) c.15588T>G (p.Phe5196Leu) c.15585T>G (p.Phe5195Leu) c.15573T>G (p.Phe5191Leu) c.15570T>G (p.Phe5190Leu) c.15564T>G (p.Phe5188Leu) c.15555T>G (p.Phe5185Leu) c.15504T>G (p.Phe5168Leu) c.15501T>G (p.Phe5167Leu) c.15468T>G (p.Phe5156Leu) c.15465T>G (p.Phe5155Leu) c.15432T>G (p.Phe5144Leu) c.15567T>G (p.Phe5189Leu) c.15540T>G (p.Phe5180Leu) c.15486T>G (p.Phe5162Leu) c.15453T>G (p.Phe5151Leu) c.15429T>G (p.Phe5143Leu) c.15381T>G (p.Phe5127Leu) c.15330T>G (p.Phe5110Leu) | |
1 | g.19077979A>G | CA416452971 | UBR4 | c.15321T>C (p.Phe5107=) c.2442T>C (p.Phe814=) c.546T>C (p.Phe182=) n.3328T>C c.15474T>C (p.Phe5158=) c.15471T>C (p.Phe5157=) c.15459T>C (p.Phe5153=) c.15456T>C (p.Phe5152=) c.15450T>C (p.Phe5150=) c.15441T>C (p.Phe5147=) c.15390T>C (p.Phe5130=) c.15387T>C (p.Phe5129=) c.15354T>C (p.Phe5118=) c.15351T>C (p.Phe5117=) c.15318T>C (p.Phe5106=) c.15588T>C (p.Phe5196=) c.15585T>C (p.Phe5195=) c.15573T>C (p.Phe5191=) c.15570T>C (p.Phe5190=) c.15564T>C (p.Phe5188=) c.15555T>C (p.Phe5185=) c.15504T>C (p.Phe5168=) c.15501T>C (p.Phe5167=) c.15468T>C (p.Phe5156=) c.15465T>C (p.Phe5155=) c.15432T>C (p.Phe5144=) c.15567T>C (p.Phe5189=) c.15540T>C (p.Phe5180=) c.15486T>C (p.Phe5162=) c.15453T>C (p.Phe5151=) c.15429T>C (p.Phe5143=) c.15381T>C (p.Phe5127=) c.15330T>C (p.Phe5110=) | |
1 | g.19077979A>T | CA338748043 | UBR4 | c.15321T>A (p.Phe5107Leu) c.2442T>A (p.Phe814Leu) c.546T>A (p.Phe182Leu) n.3328T>A c.15474T>A (p.Phe5158Leu) c.15471T>A (p.Phe5157Leu) c.15459T>A (p.Phe5153Leu) c.15456T>A (p.Phe5152Leu) c.15450T>A (p.Phe5150Leu) c.15441T>A (p.Phe5147Leu) c.15390T>A (p.Phe5130Leu) c.15387T>A (p.Phe5129Leu) c.15354T>A (p.Phe5118Leu) c.15351T>A (p.Phe5117Leu) c.15318T>A (p.Phe5106Leu) c.15588T>A (p.Phe5196Leu) c.15585T>A (p.Phe5195Leu) c.15573T>A (p.Phe5191Leu) c.15570T>A (p.Phe5190Leu) c.15564T>A (p.Phe5188Leu) c.15555T>A (p.Phe5185Leu) c.15504T>A (p.Phe5168Leu) c.15501T>A (p.Phe5167Leu) c.15468T>A (p.Phe5156Leu) c.15465T>A (p.Phe5155Leu) c.15432T>A (p.Phe5144Leu) c.15567T>A (p.Phe5189Leu) c.15540T>A (p.Phe5180Leu) c.15486T>A (p.Phe5162Leu) c.15453T>A (p.Phe5151Leu) c.15429T>A (p.Phe5143Leu) c.15381T>A (p.Phe5127Leu) c.15330T>A (p.Phe5110Leu) | |
1 | g.19077980A>C | CA338748049 | UBR4 | c.15320T>G (p.Phe5107Cys) c.2441T>G (p.Phe814Cys) c.545T>G (p.Phe182Cys) n.3327T>G c.15473T>G (p.Phe5158Cys) c.15470T>G (p.Phe5157Cys) c.15458T>G (p.Phe5153Cys) c.15455T>G (p.Phe5152Cys) c.15449T>G (p.Phe5150Cys) c.15440T>G (p.Phe5147Cys) c.15389T>G (p.Phe5130Cys) c.15386T>G (p.Phe5129Cys) c.15353T>G (p.Phe5118Cys) c.15350T>G (p.Phe5117Cys) c.15317T>G (p.Phe5106Cys) c.15587T>G (p.Phe5196Cys) c.15584T>G (p.Phe5195Cys) c.15572T>G (p.Phe5191Cys) c.15569T>G (p.Phe5190Cys) c.15563T>G (p.Phe5188Cys) c.15554T>G (p.Phe5185Cys) c.15503T>G (p.Phe5168Cys) c.15500T>G (p.Phe5167Cys) c.15467T>G (p.Phe5156Cys) c.15464T>G (p.Phe5155Cys) c.15431T>G (p.Phe5144Cys) c.15566T>G (p.Phe5189Cys) c.15539T>G (p.Phe5180Cys) c.15485T>G (p.Phe5162Cys) c.15452T>G (p.Phe5151Cys) c.15428T>G (p.Phe5143Cys) c.15380T>G (p.Phe5127Cys) c.15329T>G (p.Phe5110Cys) | |
1 | g.19077980A>G | CA338748047 | UBR4 | c.15320T>C (p.Phe5107Ser) c.2441T>C (p.Phe814Ser) c.545T>C (p.Phe182Ser) n.3327T>C c.15473T>C (p.Phe5158Ser) c.15470T>C (p.Phe5157Ser) c.15458T>C (p.Phe5153Ser) c.15455T>C (p.Phe5152Ser) c.15449T>C (p.Phe5150Ser) c.15440T>C (p.Phe5147Ser) c.15389T>C (p.Phe5130Ser) c.15386T>C (p.Phe5129Ser) c.15353T>C (p.Phe5118Ser) c.15350T>C (p.Phe5117Ser) c.15317T>C (p.Phe5106Ser) c.15587T>C (p.Phe5196Ser) c.15584T>C (p.Phe5195Ser) c.15572T>C (p.Phe5191Ser) c.15569T>C (p.Phe5190Ser) c.15563T>C (p.Phe5188Ser) c.15554T>C (p.Phe5185Ser) c.15503T>C (p.Phe5168Ser) c.15500T>C (p.Phe5167Ser) c.15467T>C (p.Phe5156Ser) c.15464T>C (p.Phe5155Ser) c.15431T>C (p.Phe5144Ser) c.15566T>C (p.Phe5189Ser) c.15539T>C (p.Phe5180Ser) c.15485T>C (p.Phe5162Ser) c.15452T>C (p.Phe5151Ser) c.15428T>C (p.Phe5143Ser) c.15380T>C (p.Phe5127Ser) c.15329T>C (p.Phe5110Ser) | |
1 | g.19077980A>T | CA338748045 | UBR4 | c.15320T>A (p.Phe5107Tyr) c.2441T>A (p.Phe814Tyr) c.545T>A (p.Phe182Tyr) n.3327T>A c.15473T>A (p.Phe5158Tyr) c.15470T>A (p.Phe5157Tyr) c.15458T>A (p.Phe5153Tyr) c.15455T>A (p.Phe5152Tyr) c.15449T>A (p.Phe5150Tyr) c.15440T>A (p.Phe5147Tyr) c.15389T>A (p.Phe5130Tyr) c.15386T>A (p.Phe5129Tyr) c.15353T>A (p.Phe5118Tyr) c.15350T>A (p.Phe5117Tyr) c.15317T>A (p.Phe5106Tyr) c.15587T>A (p.Phe5196Tyr) c.15584T>A (p.Phe5195Tyr) c.15572T>A (p.Phe5191Tyr) c.15569T>A (p.Phe5190Tyr) c.15563T>A (p.Phe5188Tyr) c.15554T>A (p.Phe5185Tyr) c.15503T>A (p.Phe5168Tyr) c.15500T>A (p.Phe5167Tyr) c.15467T>A (p.Phe5156Tyr) c.15464T>A (p.Phe5155Tyr) c.15431T>A (p.Phe5144Tyr) c.15566T>A (p.Phe5189Tyr) c.15539T>A (p.Phe5180Tyr) c.15485T>A (p.Phe5162Tyr) c.15452T>A (p.Phe5151Tyr) c.15428T>A (p.Phe5143Tyr) c.15380T>A (p.Phe5127Tyr) c.15329T>A (p.Phe5110Tyr) | |
1 | g.19077981A>C | CA338748051 | UBR4 | c.15319T>G (p.Phe5107Val) c.2440T>G (p.Phe814Val) c.544T>G (p.Phe182Val) n.3326T>G c.15472T>G (p.Phe5158Val) c.15469T>G (p.Phe5157Val) c.15457T>G (p.Phe5153Val) c.15454T>G (p.Phe5152Val) c.15448T>G (p.Phe5150Val) c.15439T>G (p.Phe5147Val) c.15388T>G (p.Phe5130Val) c.15385T>G (p.Phe5129Val) c.15352T>G (p.Phe5118Val) c.15349T>G (p.Phe5117Val) c.15316T>G (p.Phe5106Val) c.15586T>G (p.Phe5196Val) c.15583T>G (p.Phe5195Val) c.15571T>G (p.Phe5191Val) c.15568T>G (p.Phe5190Val) c.15562T>G (p.Phe5188Val) c.15553T>G (p.Phe5185Val) c.15502T>G (p.Phe5168Val) c.15499T>G (p.Phe5167Val) c.15466T>G (p.Phe5156Val) c.15463T>G (p.Phe5155Val) c.15430T>G (p.Phe5144Val) c.15565T>G (p.Phe5189Val) c.15538T>G (p.Phe5180Val) c.15484T>G (p.Phe5162Val) c.15451T>G (p.Phe5151Val) c.15427T>G (p.Phe5143Val) c.15379T>G (p.Phe5127Val) c.15328T>G (p.Phe5110Val) | |
1 | g.19077981A>G | CA338748053 | UBR4 | c.15319T>C (p.Phe5107Leu) c.2440T>C (p.Phe814Leu) c.544T>C (p.Phe182Leu) n.3326T>C c.15472T>C (p.Phe5158Leu) c.15469T>C (p.Phe5157Leu) c.15457T>C (p.Phe5153Leu) c.15454T>C (p.Phe5152Leu) c.15448T>C (p.Phe5150Leu) c.15439T>C (p.Phe5147Leu) c.15388T>C (p.Phe5130Leu) c.15385T>C (p.Phe5129Leu) c.15352T>C (p.Phe5118Leu) c.15349T>C (p.Phe5117Leu) c.15316T>C (p.Phe5106Leu) c.15586T>C (p.Phe5196Leu) c.15583T>C (p.Phe5195Leu) c.15571T>C (p.Phe5191Leu) c.15568T>C (p.Phe5190Leu) c.15562T>C (p.Phe5188Leu) c.15553T>C (p.Phe5185Leu) c.15502T>C (p.Phe5168Leu) c.15499T>C (p.Phe5167Leu) c.15466T>C (p.Phe5156Leu) c.15463T>C (p.Phe5155Leu) c.15430T>C (p.Phe5144Leu) c.15565T>C (p.Phe5189Leu) c.15538T>C (p.Phe5180Leu) c.15484T>C (p.Phe5162Leu) c.15451T>C (p.Phe5151Leu) c.15427T>C (p.Phe5143Leu) c.15379T>C (p.Phe5127Leu) c.15328T>C (p.Phe5110Leu) | |
1 | g.19077981A>T | CA338748055 | UBR4 | c.15319T>A (p.Phe5107Ile) c.2440T>A (p.Phe814Ile) c.544T>A (p.Phe182Ile) n.3326T>A c.15472T>A (p.Phe5158Ile) c.15469T>A (p.Phe5157Ile) c.15457T>A (p.Phe5153Ile) c.15454T>A (p.Phe5152Ile) c.15448T>A (p.Phe5150Ile) c.15439T>A (p.Phe5147Ile) c.15388T>A (p.Phe5130Ile) c.15385T>A (p.Phe5129Ile) c.15352T>A (p.Phe5118Ile) c.15349T>A (p.Phe5117Ile) c.15316T>A (p.Phe5106Ile) c.15586T>A (p.Phe5196Ile) c.15583T>A (p.Phe5195Ile) c.15571T>A (p.Phe5191Ile) c.15568T>A (p.Phe5190Ile) c.15562T>A (p.Phe5188Ile) c.15553T>A (p.Phe5185Ile) c.15502T>A (p.Phe5168Ile) c.15499T>A (p.Phe5167Ile) c.15466T>A (p.Phe5156Ile) c.15463T>A (p.Phe5155Ile) c.15430T>A (p.Phe5144Ile) c.15565T>A (p.Phe5189Ile) c.15538T>A (p.Phe5180Ile) c.15484T>A (p.Phe5162Ile) c.15451T>A (p.Phe5151Ile) c.15427T>A (p.Phe5143Ile) c.15379T>A (p.Phe5127Ile) c.15328T>A (p.Phe5110Ile) | |
1 | g.19077982C>A | CA338748057 | UBR4 | c.15318G>T (p.Met5106Ile) c.2439G>T (p.Met813Ile) c.543G>T (p.Met181Ile) n.3325G>T c.15471G>T (p.Met5157Ile) c.15468G>T (p.Met5156Ile) c.15456G>T (p.Met5152Ile) c.15453G>T (p.Met5151Ile) c.15447G>T (p.Met5149Ile) c.15438G>T (p.Met5146Ile) c.15387G>T (p.Met5129Ile) c.15384G>T (p.Met5128Ile) c.15351G>T (p.Met5117Ile) c.15348G>T (p.Met5116Ile) c.15315G>T (p.Met5105Ile) c.15585G>T (p.Met5195Ile) c.15582G>T (p.Met5194Ile) c.15570G>T (p.Met5190Ile) c.15567G>T (p.Met5189Ile) c.15561G>T (p.Met5187Ile) c.15552G>T (p.Met5184Ile) c.15501G>T (p.Met5167Ile) c.15498G>T (p.Met5166Ile) c.15465G>T (p.Met5155Ile) c.15462G>T (p.Met5154Ile) c.15429G>T (p.Met5143Ile) c.15564G>T (p.Met5188Ile) c.15537G>T (p.Met5179Ile) c.15483G>T (p.Met5161Ile) c.15450G>T (p.Met5150Ile) c.15426G>T (p.Met5142Ile) c.15378G>T (p.Met5126Ile) c.15327G>T (p.Met5109Ile) | |
1 | g.19077982C>G | CA338748059 | UBR4 | c.15318G>C (p.Met5106Ile) c.2439G>C (p.Met813Ile) c.543G>C (p.Met181Ile) n.3325G>C c.15471G>C (p.Met5157Ile) c.15468G>C (p.Met5156Ile) c.15456G>C (p.Met5152Ile) c.15453G>C (p.Met5151Ile) c.15447G>C (p.Met5149Ile) c.15438G>C (p.Met5146Ile) c.15387G>C (p.Met5129Ile) c.15384G>C (p.Met5128Ile) c.15351G>C (p.Met5117Ile) c.15348G>C (p.Met5116Ile) c.15315G>C (p.Met5105Ile) c.15585G>C (p.Met5195Ile) c.15582G>C (p.Met5194Ile) c.15570G>C (p.Met5190Ile) c.15567G>C (p.Met5189Ile) c.15561G>C (p.Met5187Ile) c.15552G>C (p.Met5184Ile) c.15501G>C (p.Met5167Ile) c.15498G>C (p.Met5166Ile) c.15465G>C (p.Met5155Ile) c.15462G>C (p.Met5154Ile) c.15429G>C (p.Met5143Ile) c.15564G>C (p.Met5188Ile) c.15537G>C (p.Met5179Ile) c.15483G>C (p.Met5161Ile) c.15450G>C (p.Met5150Ile) c.15426G>C (p.Met5142Ile) c.15378G>C (p.Met5126Ile) c.15327G>C (p.Met5109Ile) | |
1 | g.19077982C>T | CA338748061 | UBR4 | c.15318G>A (p.Met5106Ile) c.2439G>A (p.Met813Ile) c.543G>A (p.Met181Ile) n.3325G>A c.15471G>A (p.Met5157Ile) c.15468G>A (p.Met5156Ile) c.15456G>A (p.Met5152Ile) c.15453G>A (p.Met5151Ile) c.15447G>A (p.Met5149Ile) c.15438G>A (p.Met5146Ile) c.15387G>A (p.Met5129Ile) c.15384G>A (p.Met5128Ile) c.15351G>A (p.Met5117Ile) c.15348G>A (p.Met5116Ile) c.15315G>A (p.Met5105Ile) c.15585G>A (p.Met5195Ile) c.15582G>A (p.Met5194Ile) c.15570G>A (p.Met5190Ile) c.15567G>A (p.Met5189Ile) c.15561G>A (p.Met5187Ile) c.15552G>A (p.Met5184Ile) c.15501G>A (p.Met5167Ile) c.15498G>A (p.Met5166Ile) c.15465G>A (p.Met5155Ile) c.15462G>A (p.Met5154Ile) c.15429G>A (p.Met5143Ile) c.15564G>A (p.Met5188Ile) c.15537G>A (p.Met5179Ile) c.15483G>A (p.Met5161Ile) c.15450G>A (p.Met5150Ile) c.15426G>A (p.Met5142Ile) c.15378G>A (p.Met5126Ile) c.15327G>A (p.Met5109Ile) | |
1 | g.19077983A= | CA1156956063 | UBR4 | c.15317T= (p.Met5106=) c.2438T= (p.Met813=) c.542T= (p.Met181=) n.3324T= c.15470T= (p.Met5157=) c.15467T= (p.Met5156=) c.15455T= (p.Met5152=) c.15452T= (p.Met5151=) c.15446T= (p.Met5149=) c.15437T= (p.Met5146=) c.15386T= (p.Met5129=) c.15383T= (p.Met5128=) c.15350T= (p.Met5117=) c.15347T= (p.Met5116=) c.15314T= (p.Met5105=) c.15584T= (p.Met5195=) c.15581T= (p.Met5194=) c.15569T= (p.Met5190=) c.15566T= (p.Met5189=) c.15560T= (p.Met5187=) c.15551T= (p.Met5184=) c.15500T= (p.Met5167=) c.15497T= (p.Met5166=) c.15464T= (p.Met5155=) c.15461T= (p.Met5154=) c.15428T= (p.Met5143=) c.15563T= (p.Met5188=) c.15536T= (p.Met5179=) c.15482T= (p.Met5161=) c.15449T= (p.Met5150=) c.15425T= (p.Met5142=) c.15377T= (p.Met5126=) c.15326T= (p.Met5109=) | |
1 | g.19077983A>C | CA647909 | UBR4 | c.15317T>G (p.Met5106Arg) c.2438T>G (p.Met813Arg) c.542T>G (p.Met181Arg) n.3324T>G c.15470T>G (p.Met5157Arg) c.15467T>G (p.Met5156Arg) c.15455T>G (p.Met5152Arg) c.15452T>G (p.Met5151Arg) c.15446T>G (p.Met5149Arg) c.15437T>G (p.Met5146Arg) c.15386T>G (p.Met5129Arg) c.15383T>G (p.Met5128Arg) c.15350T>G (p.Met5117Arg) c.15347T>G (p.Met5116Arg) c.15314T>G (p.Met5105Arg) c.15584T>G (p.Met5195Arg) c.15581T>G (p.Met5194Arg) c.15569T>G (p.Met5190Arg) c.15566T>G (p.Met5189Arg) c.15560T>G (p.Met5187Arg) c.15551T>G (p.Met5184Arg) c.15500T>G (p.Met5167Arg) c.15497T>G (p.Met5166Arg) c.15464T>G (p.Met5155Arg) c.15461T>G (p.Met5154Arg) c.15428T>G (p.Met5143Arg) c.15563T>G (p.Met5188Arg) c.15536T>G (p.Met5179Arg) c.15482T>G (p.Met5161Arg) c.15449T>G (p.Met5150Arg) c.15425T>G (p.Met5142Arg) c.15377T>G (p.Met5126Arg) c.15326T>G (p.Met5109Arg) | dbSNP ExAC gnomAD v2 |
1 | g.19077983A>G | CA647908 | UBR4 | c.15317T>C (p.Met5106Thr) c.2438T>C (p.Met813Thr) c.542T>C (p.Met181Thr) n.3324T>C c.15470T>C (p.Met5157Thr) c.15467T>C (p.Met5156Thr) c.15455T>C (p.Met5152Thr) c.15452T>C (p.Met5151Thr) c.15446T>C (p.Met5149Thr) c.15437T>C (p.Met5146Thr) c.15386T>C (p.Met5129Thr) c.15383T>C (p.Met5128Thr) c.15350T>C (p.Met5117Thr) c.15347T>C (p.Met5116Thr) c.15314T>C (p.Met5105Thr) c.15584T>C (p.Met5195Thr) c.15581T>C (p.Met5194Thr) c.15569T>C (p.Met5190Thr) c.15566T>C (p.Met5189Thr) c.15560T>C (p.Met5187Thr) c.15551T>C (p.Met5184Thr) c.15500T>C (p.Met5167Thr) c.15497T>C (p.Met5166Thr) c.15464T>C (p.Met5155Thr) c.15461T>C (p.Met5154Thr) c.15428T>C (p.Met5143Thr) c.15563T>C (p.Met5188Thr) c.15536T>C (p.Met5179Thr) c.15482T>C (p.Met5161Thr) c.15449T>C (p.Met5150Thr) c.15425T>C (p.Met5142Thr) c.15377T>C (p.Met5126Thr) c.15326T>C (p.Met5109Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.19077983A>T | CA338748066 | UBR4 | c.15317T>A (p.Met5106Lys) c.2438T>A (p.Met813Lys) c.542T>A (p.Met181Lys) n.3324T>A c.15470T>A (p.Met5157Lys) c.15467T>A (p.Met5156Lys) c.15455T>A (p.Met5152Lys) c.15452T>A (p.Met5151Lys) c.15446T>A (p.Met5149Lys) c.15437T>A (p.Met5146Lys) c.15386T>A (p.Met5129Lys) c.15383T>A (p.Met5128Lys) c.15350T>A (p.Met5117Lys) c.15347T>A (p.Met5116Lys) c.15314T>A (p.Met5105Lys) c.15584T>A (p.Met5195Lys) c.15581T>A (p.Met5194Lys) c.15569T>A (p.Met5190Lys) c.15566T>A (p.Met5189Lys) c.15560T>A (p.Met5187Lys) c.15551T>A (p.Met5184Lys) c.15500T>A (p.Met5167Lys) c.15497T>A (p.Met5166Lys) c.15464T>A (p.Met5155Lys) c.15461T>A (p.Met5154Lys) c.15428T>A (p.Met5143Lys) c.15563T>A (p.Met5188Lys) c.15536T>A (p.Met5179Lys) c.15482T>A (p.Met5161Lys) c.15449T>A (p.Met5150Lys) c.15425T>A (p.Met5142Lys) c.15377T>A (p.Met5126Lys) c.15326T>A (p.Met5109Lys) | |
1 | g.19077983_19077986delinsATGT | CA1156956062 | UBR4 | c.15314_15317delinsACAT (p.Asn5105=) c.2435_2438delinsACAT (p.Asn812=) c.539_542delinsACAT (p.Asn180=) n.3321_3324delinsACAT c.15467_15470delinsACAT (p.Asn5156=) c.15464_15467delinsACAT (p.Asn5155=) c.15452_15455delinsACAT (p.Asn5151=) c.15449_15452delinsACAT (p.Asn5150=) c.15443_15446delinsACAT (p.Asn5148=) c.15434_15437delinsACAT (p.Asn5145=) c.15383_15386delinsACAT (p.Asn5128=) c.15380_15383delinsACAT (p.Asn5127=) c.15347_15350delinsACAT (p.Asn5116=) c.15344_15347delinsACAT (p.Asn5115=) c.15311_15314delinsACAT (p.Asn5104=) c.15581_15584delinsACAT (p.Asn5194=) c.15578_15581delinsACAT (p.Asn5193=) c.15566_15569delinsACAT (p.Asn5189=) c.15563_15566delinsACAT (p.Asn5188=) c.15557_15560delinsACAT (p.Asn5186=) c.15548_15551delinsACAT (p.Asn5183=) c.15497_15500delinsACAT (p.Asn5166=) c.15494_15497delinsACAT (p.Asn5165=) c.15461_15464delinsACAT (p.Asn5154=) c.15458_15461delinsACAT (p.Asn5153=) c.15425_15428delinsACAT (p.Asn5142=) c.15560_15563delinsACAT (p.Asn5187=) c.15533_15536delinsACAT (p.Asn5178=) c.15479_15482delinsACAT (p.Asn5160=) c.15446_15449delinsACAT (p.Asn5149=) c.15422_15425delinsACAT (p.Asn5141=) c.15374_15377delinsACAT (p.Asn5125=) c.15323_15326delinsACAT (p.Asn5108=) | |
1 | g.19077984T>A | CA338748068 | UBR4 | c.15316A>T (p.Met5106Leu) c.2437A>T (p.Met813Leu) c.541A>T (p.Met181Leu) n.3323A>T c.15469A>T (p.Met5157Leu) c.15466A>T (p.Met5156Leu) c.15454A>T (p.Met5152Leu) c.15451A>T (p.Met5151Leu) c.15445A>T (p.Met5149Leu) c.15436A>T (p.Met5146Leu) c.15385A>T (p.Met5129Leu) c.15382A>T (p.Met5128Leu) c.15349A>T (p.Met5117Leu) c.15346A>T (p.Met5116Leu) c.15313A>T (p.Met5105Leu) c.15583A>T (p.Met5195Leu) c.15580A>T (p.Met5194Leu) c.15568A>T (p.Met5190Leu) c.15565A>T (p.Met5189Leu) c.15559A>T (p.Met5187Leu) c.15550A>T (p.Met5184Leu) c.15499A>T (p.Met5167Leu) c.15496A>T (p.Met5166Leu) c.15463A>T (p.Met5155Leu) c.15460A>T (p.Met5154Leu) c.15427A>T (p.Met5143Leu) c.15562A>T (p.Met5188Leu) c.15535A>T (p.Met5179Leu) c.15481A>T (p.Met5161Leu) c.15448A>T (p.Met5150Leu) c.15424A>T (p.Met5142Leu) c.15376A>T (p.Met5126Leu) c.15325A>T (p.Met5109Leu) | gnomAD v4 |
1 | g.19077984T>C | CA338748069 | UBR4 | c.15316A>G (p.Met5106Val) c.2437A>G (p.Met813Val) c.541A>G (p.Met181Val) n.3323A>G c.15469A>G (p.Met5157Val) c.15466A>G (p.Met5156Val) c.15454A>G (p.Met5152Val) c.15451A>G (p.Met5151Val) c.15445A>G (p.Met5149Val) c.15436A>G (p.Met5146Val) c.15385A>G (p.Met5129Val) c.15382A>G (p.Met5128Val) c.15349A>G (p.Met5117Val) c.15346A>G (p.Met5116Val) c.15313A>G (p.Met5105Val) c.15583A>G (p.Met5195Val) c.15580A>G (p.Met5194Val) c.15568A>G (p.Met5190Val) c.15565A>G (p.Met5189Val) c.15559A>G (p.Met5187Val) c.15550A>G (p.Met5184Val) c.15499A>G (p.Met5167Val) c.15496A>G (p.Met5166Val) c.15463A>G (p.Met5155Val) c.15460A>G (p.Met5154Val) c.15427A>G (p.Met5143Val) c.15562A>G (p.Met5188Val) c.15535A>G (p.Met5179Val) c.15481A>G (p.Met5161Val) c.15448A>G (p.Met5150Val) c.15424A>G (p.Met5142Val) c.15376A>G (p.Met5126Val) c.15325A>G (p.Met5109Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.19077984T>G | CA338748071 | UBR4 | c.15316A>C (p.Met5106Leu) c.2437A>C (p.Met813Leu) c.541A>C (p.Met181Leu) n.3323A>C c.15469A>C (p.Met5157Leu) c.15466A>C (p.Met5156Leu) c.15454A>C (p.Met5152Leu) c.15451A>C (p.Met5151Leu) c.15445A>C (p.Met5149Leu) c.15436A>C (p.Met5146Leu) c.15385A>C (p.Met5129Leu) c.15382A>C (p.Met5128Leu) c.15349A>C (p.Met5117Leu) c.15346A>C (p.Met5116Leu) c.15313A>C (p.Met5105Leu) c.15583A>C (p.Met5195Leu) c.15580A>C (p.Met5194Leu) c.15568A>C (p.Met5190Leu) c.15565A>C (p.Met5189Leu) c.15559A>C (p.Met5187Leu) c.15550A>C (p.Met5184Leu) c.15499A>C (p.Met5167Leu) c.15496A>C (p.Met5166Leu) c.15463A>C (p.Met5155Leu) c.15460A>C (p.Met5154Leu) c.15427A>C (p.Met5143Leu) c.15562A>C (p.Met5188Leu) c.15535A>C (p.Met5179Leu) c.15481A>C (p.Met5161Leu) c.15448A>C (p.Met5150Leu) c.15424A>C (p.Met5142Leu) c.15376A>C (p.Met5126Leu) c.15325A>C (p.Met5109Leu) | |
1 | g.19077984T= | CA1156956065 | UBR4 | c.15316A= (p.Met5106=) c.2437A= (p.Met813=) c.541A= (p.Met181=) n.3323A= c.15469A= (p.Met5157=) c.15466A= (p.Met5156=) c.15454A= (p.Met5152=) c.15451A= (p.Met5151=) c.15445A= (p.Met5149=) c.15436A= (p.Met5146=) c.15385A= (p.Met5129=) c.15382A= (p.Met5128=) c.15349A= (p.Met5117=) c.15346A= (p.Met5116=) c.15313A= (p.Met5105=) c.15583A= (p.Met5195=) c.15580A= (p.Met5194=) c.15568A= (p.Met5190=) c.15565A= (p.Met5189=) c.15559A= (p.Met5187=) c.15550A= (p.Met5184=) c.15499A= (p.Met5167=) c.15496A= (p.Met5166=) c.15463A= (p.Met5155=) c.15460A= (p.Met5154=) c.15427A= (p.Met5143=) c.15562A= (p.Met5188=) c.15535A= (p.Met5179=) c.15481A= (p.Met5161=) c.15448A= (p.Met5150=) c.15424A= (p.Met5142=) c.15376A= (p.Met5126=) c.15325A= (p.Met5109=) | |
1 | g.19077987_19077989del | CA1156956064 | UBR4 | c.15314_15316del (p.Asn5105del) c.2435_2437del (p.Asn812del) c.539_541del (p.Asn180del) n.3321_3323del c.15467_15469del (p.Asn5156del) c.15464_15466del (p.Asn5155del) c.15452_15454del (p.Asn5151del) c.15449_15451del (p.Asn5150del) c.15443_15445del (p.Asn5148del) c.15434_15436del (p.Asn5145del) c.15383_15385del (p.Asn5128del) c.15380_15382del (p.Asn5127del) c.15347_15349del (p.Asn5116del) c.15344_15346del (p.Asn5115del) c.15311_15313del (p.Asn5104del) c.15581_15583del (p.Asn5194del) c.15578_15580del (p.Asn5193del) c.15566_15568del (p.Asn5189del) c.15563_15565del (p.Asn5188del) c.15557_15559del (p.Asn5186del) c.15548_15550del (p.Asn5183del) c.15497_15499del (p.Asn5166del) c.15494_15496del (p.Asn5165del) c.15461_15463del (p.Asn5154del) c.15458_15460del (p.Asn5153del) c.15425_15427del (p.Asn5142del) c.15560_15562del (p.Asn5187del) c.15533_15535del (p.Asn5178del) c.15479_15481del (p.Asn5160del) c.15446_15448del (p.Asn5149del) c.15422_15424del (p.Asn5141del) c.15374_15376del (p.Asn5125del) c.15323_15325del (p.Asn5108del) | dbSNP gnomAD v4 |
1 | g.19077985G>A | CA416453002 | UBR4 | c.15315C>T (p.Asn5105=) c.2436C>T (p.Asn812=) c.540C>T (p.Asn180=) n.3322C>T c.15468C>T (p.Asn5156=) c.15465C>T (p.Asn5155=) c.15453C>T (p.Asn5151=) c.15450C>T (p.Asn5150=) c.15444C>T (p.Asn5148=) c.15435C>T (p.Asn5145=) c.15384C>T (p.Asn5128=) c.15381C>T (p.Asn5127=) c.15348C>T (p.Asn5116=) c.15345C>T (p.Asn5115=) c.15312C>T (p.Asn5104=) c.15582C>T (p.Asn5194=) c.15579C>T (p.Asn5193=) c.15567C>T (p.Asn5189=) c.15564C>T (p.Asn5188=) c.15558C>T (p.Asn5186=) c.15549C>T (p.Asn5183=) c.15498C>T (p.Asn5166=) c.15495C>T (p.Asn5165=) c.15462C>T (p.Asn5154=) c.15459C>T (p.Asn5153=) c.15426C>T (p.Asn5142=) c.15561C>T (p.Asn5187=) c.15534C>T (p.Asn5178=) c.15480C>T (p.Asn5160=) c.15447C>T (p.Asn5149=) c.15423C>T (p.Asn5141=) c.15375C>T (p.Asn5125=) c.15324C>T (p.Asn5108=) | |
1 | g.19077985G>C | CA338748072 | UBR4 | c.15315C>G (p.Asn5105Lys) c.2436C>G (p.Asn812Lys) c.540C>G (p.Asn180Lys) n.3322C>G c.15468C>G (p.Asn5156Lys) c.15465C>G (p.Asn5155Lys) c.15453C>G (p.Asn5151Lys) c.15450C>G (p.Asn5150Lys) c.15444C>G (p.Asn5148Lys) c.15435C>G (p.Asn5145Lys) c.15384C>G (p.Asn5128Lys) c.15381C>G (p.Asn5127Lys) c.15348C>G (p.Asn5116Lys) c.15345C>G (p.Asn5115Lys) c.15312C>G (p.Asn5104Lys) c.15582C>G (p.Asn5194Lys) c.15579C>G (p.Asn5193Lys) c.15567C>G (p.Asn5189Lys) c.15564C>G (p.Asn5188Lys) c.15558C>G (p.Asn5186Lys) c.15549C>G (p.Asn5183Lys) c.15498C>G (p.Asn5166Lys) c.15495C>G (p.Asn5165Lys) c.15462C>G (p.Asn5154Lys) c.15459C>G (p.Asn5153Lys) c.15426C>G (p.Asn5142Lys) c.15561C>G (p.Asn5187Lys) c.15534C>G (p.Asn5178Lys) c.15480C>G (p.Asn5160Lys) c.15447C>G (p.Asn5149Lys) c.15423C>G (p.Asn5141Lys) c.15375C>G (p.Asn5125Lys) c.15324C>G (p.Asn5108Lys) | |
1 | g.19077985G>T | CA338748074 | UBR4 | c.15315C>A (p.Asn5105Lys) c.2436C>A (p.Asn812Lys) c.540C>A (p.Asn180Lys) n.3322C>A c.15468C>A (p.Asn5156Lys) c.15465C>A (p.Asn5155Lys) c.15453C>A (p.Asn5151Lys) c.15450C>A (p.Asn5150Lys) c.15444C>A (p.Asn5148Lys) c.15435C>A (p.Asn5145Lys) c.15384C>A (p.Asn5128Lys) c.15381C>A (p.Asn5127Lys) c.15348C>A (p.Asn5116Lys) c.15345C>A (p.Asn5115Lys) c.15312C>A (p.Asn5104Lys) c.15582C>A (p.Asn5194Lys) c.15579C>A (p.Asn5193Lys) c.15567C>A (p.Asn5189Lys) c.15564C>A (p.Asn5188Lys) c.15558C>A (p.Asn5186Lys) c.15549C>A (p.Asn5183Lys) c.15498C>A (p.Asn5166Lys) c.15495C>A (p.Asn5165Lys) c.15462C>A (p.Asn5154Lys) c.15459C>A (p.Asn5153Lys) c.15426C>A (p.Asn5142Lys) c.15561C>A (p.Asn5187Lys) c.15534C>A (p.Asn5178Lys) c.15480C>A (p.Asn5160Lys) c.15447C>A (p.Asn5149Lys) c.15423C>A (p.Asn5141Lys) c.15375C>A (p.Asn5125Lys) c.15324C>A (p.Asn5108Lys) | |
1 | g.19077986T>A | CA338748078 | UBR4 | c.15314A>T (p.Asn5105Ile) c.2435A>T (p.Asn812Ile) c.539A>T (p.Asn180Ile) n.3321A>T c.15467A>T (p.Asn5156Ile) c.15464A>T (p.Asn5155Ile) c.15452A>T (p.Asn5151Ile) c.15449A>T (p.Asn5150Ile) c.15443A>T (p.Asn5148Ile) c.15434A>T (p.Asn5145Ile) c.15383A>T (p.Asn5128Ile) c.15380A>T (p.Asn5127Ile) c.15347A>T (p.Asn5116Ile) c.15344A>T (p.Asn5115Ile) c.15311A>T (p.Asn5104Ile) c.15581A>T (p.Asn5194Ile) c.15578A>T (p.Asn5193Ile) c.15566A>T (p.Asn5189Ile) c.15563A>T (p.Asn5188Ile) c.15557A>T (p.Asn5186Ile) c.15548A>T (p.Asn5183Ile) c.15497A>T (p.Asn5166Ile) c.15494A>T (p.Asn5165Ile) c.15461A>T (p.Asn5154Ile) c.15458A>T (p.Asn5153Ile) c.15425A>T (p.Asn5142Ile) c.15560A>T (p.Asn5187Ile) c.15533A>T (p.Asn5178Ile) c.15479A>T (p.Asn5160Ile) c.15446A>T (p.Asn5149Ile) c.15422A>T (p.Asn5141Ile) c.15374A>T (p.Asn5125Ile) c.15323A>T (p.Asn5108Ile) | gnomAD v4 |
1 | g.19077986T>C | CA647910 | UBR4 | c.15314A>G (p.Asn5105Ser) c.2435A>G (p.Asn812Ser) c.539A>G (p.Asn180Ser) n.3321A>G c.15467A>G (p.Asn5156Ser) c.15464A>G (p.Asn5155Ser) c.15452A>G (p.Asn5151Ser) c.15449A>G (p.Asn5150Ser) c.15443A>G (p.Asn5148Ser) c.15434A>G (p.Asn5145Ser) c.15383A>G (p.Asn5128Ser) c.15380A>G (p.Asn5127Ser) c.15347A>G (p.Asn5116Ser) c.15344A>G (p.Asn5115Ser) c.15311A>G (p.Asn5104Ser) c.15581A>G (p.Asn5194Ser) c.15578A>G (p.Asn5193Ser) c.15566A>G (p.Asn5189Ser) c.15563A>G (p.Asn5188Ser) c.15557A>G (p.Asn5186Ser) c.15548A>G (p.Asn5183Ser) c.15497A>G (p.Asn5166Ser) c.15494A>G (p.Asn5165Ser) c.15461A>G (p.Asn5154Ser) c.15458A>G (p.Asn5153Ser) c.15425A>G (p.Asn5142Ser) c.15560A>G (p.Asn5187Ser) c.15533A>G (p.Asn5178Ser) c.15479A>G (p.Asn5160Ser) c.15446A>G (p.Asn5149Ser) c.15422A>G (p.Asn5141Ser) c.15374A>G (p.Asn5125Ser) c.15323A>G (p.Asn5108Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.19077986T>G | CA338748076 | UBR4 | c.15314A>C (p.Asn5105Thr) c.2435A>C (p.Asn812Thr) c.539A>C (p.Asn180Thr) n.3321A>C c.15467A>C (p.Asn5156Thr) c.15464A>C (p.Asn5155Thr) c.15452A>C (p.Asn5151Thr) c.15449A>C (p.Asn5150Thr) c.15443A>C (p.Asn5148Thr) c.15434A>C (p.Asn5145Thr) c.15383A>C (p.Asn5128Thr) c.15380A>C (p.Asn5127Thr) c.15347A>C (p.Asn5116Thr) c.15344A>C (p.Asn5115Thr) c.15311A>C (p.Asn5104Thr) c.15581A>C (p.Asn5194Thr) c.15578A>C (p.Asn5193Thr) c.15566A>C (p.Asn5189Thr) c.15563A>C (p.Asn5188Thr) c.15557A>C (p.Asn5186Thr) c.15548A>C (p.Asn5183Thr) c.15497A>C (p.Asn5166Thr) c.15494A>C (p.Asn5165Thr) c.15461A>C (p.Asn5154Thr) c.15458A>C (p.Asn5153Thr) c.15425A>C (p.Asn5142Thr) c.15560A>C (p.Asn5187Thr) c.15533A>C (p.Asn5178Thr) c.15479A>C (p.Asn5160Thr) c.15446A>C (p.Asn5149Thr) c.15422A>C (p.Asn5141Thr) c.15374A>C (p.Asn5125Thr) c.15323A>C (p.Asn5108Thr) | |
1 | g.19077986T= | CA1141706695 | UBR4 | c.15314A= (p.Asn5105=) c.2435A= (p.Asn812=) c.539A= (p.Asn180=) n.3321A= c.15467A= (p.Asn5156=) c.15464A= (p.Asn5155=) c.15452A= (p.Asn5151=) c.15449A= (p.Asn5150=) c.15443A= (p.Asn5148=) c.15434A= (p.Asn5145=) c.15383A= (p.Asn5128=) c.15380A= (p.Asn5127=) c.15347A= (p.Asn5116=) c.15344A= (p.Asn5115=) c.15311A= (p.Asn5104=) c.15581A= (p.Asn5194=) c.15578A= (p.Asn5193=) c.15566A= (p.Asn5189=) c.15563A= (p.Asn5188=) c.15557A= (p.Asn5186=) c.15548A= (p.Asn5183=) c.15497A= (p.Asn5166=) c.15494A= (p.Asn5165=) c.15461A= (p.Asn5154=) c.15458A= (p.Asn5153=) c.15425A= (p.Asn5142=) c.15560A= (p.Asn5187=) c.15533A= (p.Asn5178=) c.15479A= (p.Asn5160=) c.15446A= (p.Asn5149=) c.15422A= (p.Asn5141=) c.15374A= (p.Asn5125=) c.15323A= (p.Asn5108=) | |
1 | g.19077987T>A | CA338748080 | UBR4 | c.15313A>T (p.Asn5105Tyr) c.2434A>T (p.Asn812Tyr) c.538A>T (p.Asn180Tyr) n.3320A>T c.15466A>T (p.Asn5156Tyr) c.15463A>T (p.Asn5155Tyr) c.15451A>T (p.Asn5151Tyr) c.15448A>T (p.Asn5150Tyr) c.15442A>T (p.Asn5148Tyr) c.15433A>T (p.Asn5145Tyr) c.15382A>T (p.Asn5128Tyr) c.15379A>T (p.Asn5127Tyr) c.15346A>T (p.Asn5116Tyr) c.15343A>T (p.Asn5115Tyr) c.15310A>T (p.Asn5104Tyr) c.15580A>T (p.Asn5194Tyr) c.15577A>T (p.Asn5193Tyr) c.15565A>T (p.Asn5189Tyr) c.15562A>T (p.Asn5188Tyr) c.15556A>T (p.Asn5186Tyr) c.15547A>T (p.Asn5183Tyr) c.15496A>T (p.Asn5166Tyr) c.15493A>T (p.Asn5165Tyr) c.15460A>T (p.Asn5154Tyr) c.15457A>T (p.Asn5153Tyr) c.15424A>T (p.Asn5142Tyr) c.15559A>T (p.Asn5187Tyr) c.15532A>T (p.Asn5178Tyr) c.15478A>T (p.Asn5160Tyr) c.15445A>T (p.Asn5149Tyr) c.15421A>T (p.Asn5141Tyr) c.15373A>T (p.Asn5125Tyr) c.15322A>T (p.Asn5108Tyr) | |
1 | g.19077987T>C | CA338748082 | UBR4 | c.15313A>G (p.Asn5105Asp) c.2434A>G (p.Asn812Asp) c.538A>G (p.Asn180Asp) n.3320A>G c.15466A>G (p.Asn5156Asp) c.15463A>G (p.Asn5155Asp) c.15451A>G (p.Asn5151Asp) c.15448A>G (p.Asn5150Asp) c.15442A>G (p.Asn5148Asp) c.15433A>G (p.Asn5145Asp) c.15382A>G (p.Asn5128Asp) c.15379A>G (p.Asn5127Asp) c.15346A>G (p.Asn5116Asp) c.15343A>G (p.Asn5115Asp) c.15310A>G (p.Asn5104Asp) c.15580A>G (p.Asn5194Asp) c.15577A>G (p.Asn5193Asp) c.15565A>G (p.Asn5189Asp) c.15562A>G (p.Asn5188Asp) c.15556A>G (p.Asn5186Asp) c.15547A>G (p.Asn5183Asp) c.15496A>G (p.Asn5166Asp) c.15493A>G (p.Asn5165Asp) c.15460A>G (p.Asn5154Asp) c.15457A>G (p.Asn5153Asp) c.15424A>G (p.Asn5142Asp) c.15559A>G (p.Asn5187Asp) c.15532A>G (p.Asn5178Asp) c.15478A>G (p.Asn5160Asp) c.15445A>G (p.Asn5149Asp) c.15421A>G (p.Asn5141Asp) c.15373A>G (p.Asn5125Asp) c.15322A>G (p.Asn5108Asp) | dbSNP gnomAD v4 |
1 | g.19077987T>G | CA338748084 | UBR4 | c.15313A>C (p.Asn5105His) c.2434A>C (p.Asn812His) c.538A>C (p.Asn180His) n.3320A>C c.15466A>C (p.Asn5156His) c.15463A>C (p.Asn5155His) c.15451A>C (p.Asn5151His) c.15448A>C (p.Asn5150His) c.15442A>C (p.Asn5148His) c.15433A>C (p.Asn5145His) c.15382A>C (p.Asn5128His) c.15379A>C (p.Asn5127His) c.15346A>C (p.Asn5116His) c.15343A>C (p.Asn5115His) c.15310A>C (p.Asn5104His) c.15580A>C (p.Asn5194His) c.15577A>C (p.Asn5193His) c.15565A>C (p.Asn5189His) c.15562A>C (p.Asn5188His) c.15556A>C (p.Asn5186His) c.15547A>C (p.Asn5183His) c.15496A>C (p.Asn5166His) c.15493A>C (p.Asn5165His) c.15460A>C (p.Asn5154His) c.15457A>C (p.Asn5153His) c.15424A>C (p.Asn5142His) c.15559A>C (p.Asn5187His) c.15532A>C (p.Asn5178His) c.15478A>C (p.Asn5160His) c.15445A>C (p.Asn5149His) c.15421A>C (p.Asn5141His) c.15373A>C (p.Asn5125His) c.15322A>C (p.Asn5108His) | |
1 | g.19077987T= | CA1156956066 | UBR4 | c.15313A= (p.Asn5105=) c.2434A= (p.Asn812=) c.538A= (p.Asn180=) n.3320A= c.15466A= (p.Asn5156=) c.15463A= (p.Asn5155=) c.15451A= (p.Asn5151=) c.15448A= (p.Asn5150=) c.15442A= (p.Asn5148=) c.15433A= (p.Asn5145=) c.15382A= (p.Asn5128=) c.15379A= (p.Asn5127=) c.15346A= (p.Asn5116=) c.15343A= (p.Asn5115=) c.15310A= (p.Asn5104=) c.15580A= (p.Asn5194=) c.15577A= (p.Asn5193=) c.15565A= (p.Asn5189=) c.15562A= (p.Asn5188=) c.15556A= (p.Asn5186=) c.15547A= (p.Asn5183=) c.15496A= (p.Asn5166=) c.15493A= (p.Asn5165=) c.15460A= (p.Asn5154=) c.15457A= (p.Asn5153=) c.15424A= (p.Asn5142=) c.15559A= (p.Asn5187=) c.15532A= (p.Asn5178=) c.15478A= (p.Asn5160=) c.15445A= (p.Asn5149=) c.15421A= (p.Asn5141=) c.15373A= (p.Asn5125=) c.15322A= (p.Asn5108=) | |
1 | g.19077988G>A | CA416453017 | UBR4 | c.15312C>T (p.Tyr5104=) c.2433C>T (p.Tyr811=) c.537C>T (p.Tyr179=) n.3319C>T c.15465C>T (p.Tyr5155=) c.15462C>T (p.Tyr5154=) c.15450C>T (p.Tyr5150=) c.15447C>T (p.Tyr5149=) c.15441C>T (p.Tyr5147=) c.15432C>T (p.Tyr5144=) c.15381C>T (p.Tyr5127=) c.15378C>T (p.Tyr5126=) c.15345C>T (p.Tyr5115=) c.15342C>T (p.Tyr5114=) c.15309C>T (p.Tyr5103=) c.15579C>T (p.Tyr5193=) c.15576C>T (p.Tyr5192=) c.15564C>T (p.Tyr5188=) c.15561C>T (p.Tyr5187=) c.15555C>T (p.Tyr5185=) c.15546C>T (p.Tyr5182=) c.15495C>T (p.Tyr5165=) c.15492C>T (p.Tyr5164=) c.15459C>T (p.Tyr5153=) c.15456C>T (p.Tyr5152=) c.15423C>T (p.Tyr5141=) c.15558C>T (p.Tyr5186=) c.15531C>T (p.Tyr5177=) c.15477C>T (p.Tyr5159=) c.15444C>T (p.Tyr5148=) c.15420C>T (p.Tyr5140=) c.15372C>T (p.Tyr5124=) c.15321C>T (p.Tyr5107=) | COSMIC COSMIC COSMIC COSMIC |
1 | g.19077988G>C | CA338748086 | UBR4 | c.15312C>G (p.Tyr5104Ter) c.2433C>G (p.Tyr811Ter) c.537C>G (p.Tyr179Ter) n.3319C>G c.15465C>G (p.Tyr5155Ter) c.15462C>G (p.Tyr5154Ter) c.15450C>G (p.Tyr5150Ter) c.15447C>G (p.Tyr5149Ter) c.15441C>G (p.Tyr5147Ter) c.15432C>G (p.Tyr5144Ter) c.15381C>G (p.Tyr5127Ter) c.15378C>G (p.Tyr5126Ter) c.15345C>G (p.Tyr5115Ter) c.15342C>G (p.Tyr5114Ter) c.15309C>G (p.Tyr5103Ter) c.15579C>G (p.Tyr5193Ter) c.15576C>G (p.Tyr5192Ter) c.15564C>G (p.Tyr5188Ter) c.15561C>G (p.Tyr5187Ter) c.15555C>G (p.Tyr5185Ter) c.15546C>G (p.Tyr5182Ter) c.15495C>G (p.Tyr5165Ter) c.15492C>G (p.Tyr5164Ter) c.15459C>G (p.Tyr5153Ter) c.15456C>G (p.Tyr5152Ter) c.15423C>G (p.Tyr5141Ter) c.15558C>G (p.Tyr5186Ter) c.15531C>G (p.Tyr5177Ter) c.15477C>G (p.Tyr5159Ter) c.15444C>G (p.Tyr5148Ter) c.15420C>G (p.Tyr5140Ter) c.15372C>G (p.Tyr5124Ter) c.15321C>G (p.Tyr5107Ter) | |
1 | g.19077988G>T | CA338748088 | UBR4 | c.15312C>A (p.Tyr5104Ter) c.2433C>A (p.Tyr811Ter) c.537C>A (p.Tyr179Ter) n.3319C>A c.15465C>A (p.Tyr5155Ter) c.15462C>A (p.Tyr5154Ter) c.15450C>A (p.Tyr5150Ter) c.15447C>A (p.Tyr5149Ter) c.15441C>A (p.Tyr5147Ter) c.15432C>A (p.Tyr5144Ter) c.15381C>A (p.Tyr5127Ter) c.15378C>A (p.Tyr5126Ter) c.15345C>A (p.Tyr5115Ter) c.15342C>A (p.Tyr5114Ter) c.15309C>A (p.Tyr5103Ter) c.15579C>A (p.Tyr5193Ter) c.15576C>A (p.Tyr5192Ter) c.15564C>A (p.Tyr5188Ter) c.15561C>A (p.Tyr5187Ter) c.15555C>A (p.Tyr5185Ter) c.15546C>A (p.Tyr5182Ter) c.15495C>A (p.Tyr5165Ter) c.15492C>A (p.Tyr5164Ter) c.15459C>A (p.Tyr5153Ter) c.15456C>A (p.Tyr5152Ter) c.15423C>A (p.Tyr5141Ter) c.15558C>A (p.Tyr5186Ter) c.15531C>A (p.Tyr5177Ter) c.15477C>A (p.Tyr5159Ter) c.15444C>A (p.Tyr5148Ter) c.15420C>A (p.Tyr5140Ter) c.15372C>A (p.Tyr5124Ter) c.15321C>A (p.Tyr5107Ter) | |
1 | g.19077989T>A | CA338748090 | UBR4 | c.15311A>T (p.Tyr5104Phe) c.2432A>T (p.Tyr811Phe) c.536A>T (p.Tyr179Phe) n.3318A>T c.15464A>T (p.Tyr5155Phe) c.15461A>T (p.Tyr5154Phe) c.15449A>T (p.Tyr5150Phe) c.15446A>T (p.Tyr5149Phe) c.15440A>T (p.Tyr5147Phe) c.15431A>T (p.Tyr5144Phe) c.15380A>T (p.Tyr5127Phe) c.15377A>T (p.Tyr5126Phe) c.15344A>T (p.Tyr5115Phe) c.15341A>T (p.Tyr5114Phe) c.15308A>T (p.Tyr5103Phe) c.15578A>T (p.Tyr5193Phe) c.15575A>T (p.Tyr5192Phe) c.15563A>T (p.Tyr5188Phe) c.15560A>T (p.Tyr5187Phe) c.15554A>T (p.Tyr5185Phe) c.15545A>T (p.Tyr5182Phe) c.15494A>T (p.Tyr5165Phe) c.15491A>T (p.Tyr5164Phe) c.15458A>T (p.Tyr5153Phe) c.15455A>T (p.Tyr5152Phe) c.15422A>T (p.Tyr5141Phe) c.15557A>T (p.Tyr5186Phe) c.15530A>T (p.Tyr5177Phe) c.15476A>T (p.Tyr5159Phe) c.15443A>T (p.Tyr5148Phe) c.15419A>T (p.Tyr5140Phe) c.15371A>T (p.Tyr5124Phe) c.15320A>T (p.Tyr5107Phe) | |
1 | g.19077989T>C | CA18791035 | UBR4 | c.15311A>G (p.Tyr5104Cys) c.2432A>G (p.Tyr811Cys) c.536A>G (p.Tyr179Cys) n.3318A>G c.15464A>G (p.Tyr5155Cys) c.15461A>G (p.Tyr5154Cys) c.15449A>G (p.Tyr5150Cys) c.15446A>G (p.Tyr5149Cys) c.15440A>G (p.Tyr5147Cys) c.15431A>G (p.Tyr5144Cys) c.15380A>G (p.Tyr5127Cys) c.15377A>G (p.Tyr5126Cys) c.15344A>G (p.Tyr5115Cys) c.15341A>G (p.Tyr5114Cys) c.15308A>G (p.Tyr5103Cys) c.15578A>G (p.Tyr5193Cys) c.15575A>G (p.Tyr5192Cys) c.15563A>G (p.Tyr5188Cys) c.15560A>G (p.Tyr5187Cys) c.15554A>G (p.Tyr5185Cys) c.15545A>G (p.Tyr5182Cys) c.15494A>G (p.Tyr5165Cys) c.15491A>G (p.Tyr5164Cys) c.15458A>G (p.Tyr5153Cys) c.15455A>G (p.Tyr5152Cys) c.15422A>G (p.Tyr5141Cys) c.15557A>G (p.Tyr5186Cys) c.15530A>G (p.Tyr5177Cys) c.15476A>G (p.Tyr5159Cys) c.15443A>G (p.Tyr5148Cys) c.15419A>G (p.Tyr5140Cys) c.15371A>G (p.Tyr5124Cys) c.15320A>G (p.Tyr5107Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.19077989T>G | CA338748093 | UBR4 | c.15311A>C (p.Tyr5104Ser) c.2432A>C (p.Tyr811Ser) c.536A>C (p.Tyr179Ser) n.3318A>C c.15464A>C (p.Tyr5155Ser) c.15461A>C (p.Tyr5154Ser) c.15449A>C (p.Tyr5150Ser) c.15446A>C (p.Tyr5149Ser) c.15440A>C (p.Tyr5147Ser) c.15431A>C (p.Tyr5144Ser) c.15380A>C (p.Tyr5127Ser) c.15377A>C (p.Tyr5126Ser) c.15344A>C (p.Tyr5115Ser) c.15341A>C (p.Tyr5114Ser) c.15308A>C (p.Tyr5103Ser) c.15578A>C (p.Tyr5193Ser) c.15575A>C (p.Tyr5192Ser) c.15563A>C (p.Tyr5188Ser) c.15560A>C (p.Tyr5187Ser) c.15554A>C (p.Tyr5185Ser) c.15545A>C (p.Tyr5182Ser) c.15494A>C (p.Tyr5165Ser) c.15491A>C (p.Tyr5164Ser) c.15458A>C (p.Tyr5153Ser) c.15455A>C (p.Tyr5152Ser) c.15422A>C (p.Tyr5141Ser) c.15557A>C (p.Tyr5186Ser) c.15530A>C (p.Tyr5177Ser) c.15476A>C (p.Tyr5159Ser) c.15443A>C (p.Tyr5148Ser) c.15419A>C (p.Tyr5140Ser) c.15371A>C (p.Tyr5124Ser) c.15320A>C (p.Tyr5107Ser) | |
1 | g.19077989T= | CA1156956067 | UBR4 | c.15311A= (p.Tyr5104=) c.2432A= (p.Tyr811=) c.536A= (p.Tyr179=) n.3318A= c.15464A= (p.Tyr5155=) c.15461A= (p.Tyr5154=) c.15449A= (p.Tyr5150=) c.15446A= (p.Tyr5149=) c.15440A= (p.Tyr5147=) c.15431A= (p.Tyr5144=) c.15380A= (p.Tyr5127=) c.15377A= (p.Tyr5126=) c.15344A= (p.Tyr5115=) c.15341A= (p.Tyr5114=) c.15308A= (p.Tyr5103=) c.15578A= (p.Tyr5193=) c.15575A= (p.Tyr5192=) c.15563A= (p.Tyr5188=) c.15560A= (p.Tyr5187=) c.15554A= (p.Tyr5185=) c.15545A= (p.Tyr5182=) c.15494A= (p.Tyr5165=) c.15491A= (p.Tyr5164=) c.15458A= (p.Tyr5153=) c.15455A= (p.Tyr5152=) c.15422A= (p.Tyr5141=) c.15557A= (p.Tyr5186=) c.15530A= (p.Tyr5177=) c.15476A= (p.Tyr5159=) c.15443A= (p.Tyr5148=) c.15419A= (p.Tyr5140=) c.15371A= (p.Tyr5124=) c.15320A= (p.Tyr5107=) | |
1 | g.19077990A= | CA1156956068 | UBR4 | c.15310T= (p.Tyr5104=) c.2431T= (p.Tyr811=) c.535T= (p.Tyr179=) n.3317T= c.15463T= (p.Tyr5155=) c.15460T= (p.Tyr5154=) c.15448T= (p.Tyr5150=) c.15445T= (p.Tyr5149=) c.15439T= (p.Tyr5147=) c.15430T= (p.Tyr5144=) c.15379T= (p.Tyr5127=) c.15376T= (p.Tyr5126=) c.15343T= (p.Tyr5115=) c.15340T= (p.Tyr5114=) c.15307T= (p.Tyr5103=) c.15577T= (p.Tyr5193=) c.15574T= (p.Tyr5192=) c.15562T= (p.Tyr5188=) c.15559T= (p.Tyr5187=) c.15553T= (p.Tyr5185=) c.15544T= (p.Tyr5182=) c.15493T= (p.Tyr5165=) c.15490T= (p.Tyr5164=) c.15457T= (p.Tyr5153=) c.15454T= (p.Tyr5152=) c.15421T= (p.Tyr5141=) c.15556T= (p.Tyr5186=) c.15529T= (p.Tyr5177=) c.15475T= (p.Tyr5159=) c.15442T= (p.Tyr5148=) c.15418T= (p.Tyr5140=) c.15370T= (p.Tyr5124=) c.15319T= (p.Tyr5107=) | |
1 | g.19077990A>C | CA338748095 | UBR4 | c.15310T>G (p.Tyr5104Asp) c.2431T>G (p.Tyr811Asp) c.535T>G (p.Tyr179Asp) n.3317T>G c.15463T>G (p.Tyr5155Asp) c.15460T>G (p.Tyr5154Asp) c.15448T>G (p.Tyr5150Asp) c.15445T>G (p.Tyr5149Asp) c.15439T>G (p.Tyr5147Asp) c.15430T>G (p.Tyr5144Asp) c.15379T>G (p.Tyr5127Asp) c.15376T>G (p.Tyr5126Asp) c.15343T>G (p.Tyr5115Asp) c.15340T>G (p.Tyr5114Asp) c.15307T>G (p.Tyr5103Asp) c.15577T>G (p.Tyr5193Asp) c.15574T>G (p.Tyr5192Asp) c.15562T>G (p.Tyr5188Asp) c.15559T>G (p.Tyr5187Asp) c.15553T>G (p.Tyr5185Asp) c.15544T>G (p.Tyr5182Asp) c.15493T>G (p.Tyr5165Asp) c.15490T>G (p.Tyr5164Asp) c.15457T>G (p.Tyr5153Asp) c.15454T>G (p.Tyr5152Asp) c.15421T>G (p.Tyr5141Asp) c.15556T>G (p.Tyr5186Asp) c.15529T>G (p.Tyr5177Asp) c.15475T>G (p.Tyr5159Asp) c.15442T>G (p.Tyr5148Asp) c.15418T>G (p.Tyr5140Asp) c.15370T>G (p.Tyr5124Asp) c.15319T>G (p.Tyr5107Asp) | |
1 | g.19077990A>G | CA338748097 | UBR4 | c.15310T>C (p.Tyr5104His) c.2431T>C (p.Tyr811His) c.535T>C (p.Tyr179His) n.3317T>C c.15463T>C (p.Tyr5155His) c.15460T>C (p.Tyr5154His) c.15448T>C (p.Tyr5150His) c.15445T>C (p.Tyr5149His) c.15439T>C (p.Tyr5147His) c.15430T>C (p.Tyr5144His) c.15379T>C (p.Tyr5127His) c.15376T>C (p.Tyr5126His) c.15343T>C (p.Tyr5115His) c.15340T>C (p.Tyr5114His) c.15307T>C (p.Tyr5103His) c.15577T>C (p.Tyr5193His) c.15574T>C (p.Tyr5192His) c.15562T>C (p.Tyr5188His) c.15559T>C (p.Tyr5187His) c.15553T>C (p.Tyr5185His) c.15544T>C (p.Tyr5182His) c.15493T>C (p.Tyr5165His) c.15490T>C (p.Tyr5164His) c.15457T>C (p.Tyr5153His) c.15454T>C (p.Tyr5152His) c.15421T>C (p.Tyr5141His) c.15556T>C (p.Tyr5186His) c.15529T>C (p.Tyr5177His) c.15475T>C (p.Tyr5159His) c.15442T>C (p.Tyr5148His) c.15418T>C (p.Tyr5140His) c.15370T>C (p.Tyr5124His) c.15319T>C (p.Tyr5107His) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.19077990A>T | CA338748096 | UBR4 | c.15310T>A (p.Tyr5104Asn) c.2431T>A (p.Tyr811Asn) c.535T>A (p.Tyr179Asn) n.3317T>A c.15463T>A (p.Tyr5155Asn) c.15460T>A (p.Tyr5154Asn) c.15448T>A (p.Tyr5150Asn) c.15445T>A (p.Tyr5149Asn) c.15439T>A (p.Tyr5147Asn) c.15430T>A (p.Tyr5144Asn) c.15379T>A (p.Tyr5127Asn) c.15376T>A (p.Tyr5126Asn) c.15343T>A (p.Tyr5115Asn) c.15340T>A (p.Tyr5114Asn) c.15307T>A (p.Tyr5103Asn) c.15577T>A (p.Tyr5193Asn) c.15574T>A (p.Tyr5192Asn) c.15562T>A (p.Tyr5188Asn) c.15559T>A (p.Tyr5187Asn) c.15553T>A (p.Tyr5185Asn) c.15544T>A (p.Tyr5182Asn) c.15493T>A (p.Tyr5165Asn) c.15490T>A (p.Tyr5164Asn) c.15457T>A (p.Tyr5153Asn) c.15454T>A (p.Tyr5152Asn) c.15421T>A (p.Tyr5141Asn) c.15556T>A (p.Tyr5186Asn) c.15529T>A (p.Tyr5177Asn) c.15475T>A (p.Tyr5159Asn) c.15442T>A (p.Tyr5148Asn) c.15418T>A (p.Tyr5140Asn) c.15370T>A (p.Tyr5124Asn) c.15319T>A (p.Tyr5107Asn) | |
1 | g.19077991A>C | CA338748100 | UBR4 | c.15309T>G (p.Ile5103Met) c.2430T>G (p.Ile810Met) c.534T>G (p.Ile178Met) n.3316T>G c.15462T>G (p.Ile5154Met) c.15459T>G (p.Ile5153Met) c.15447T>G (p.Ile5149Met) c.15444T>G (p.Ile5148Met) c.15438T>G (p.Ile5146Met) c.15429T>G (p.Ile5143Met) c.15378T>G (p.Ile5126Met) c.15375T>G (p.Ile5125Met) c.15342T>G (p.Ile5114Met) c.15339T>G (p.Ile5113Met) c.15306T>G (p.Ile5102Met) c.15576T>G (p.Ile5192Met) c.15573T>G (p.Ile5191Met) c.15561T>G (p.Ile5187Met) c.15558T>G (p.Ile5186Met) c.15552T>G (p.Ile5184Met) c.15543T>G (p.Ile5181Met) c.15492T>G (p.Ile5164Met) c.15489T>G (p.Ile5163Met) c.15456T>G (p.Ile5152Met) c.15453T>G (p.Ile5151Met) c.15420T>G (p.Ile5140Met) c.15555T>G (p.Ile5185Met) c.15528T>G (p.Ile5176Met) c.15474T>G (p.Ile5158Met) c.15441T>G (p.Ile5147Met) c.15417T>G (p.Ile5139Met) c.15369T>G (p.Ile5123Met) c.15318T>G (p.Ile5106Met) | |
1 | g.19077991A>G | CA416453028 | UBR4 | c.15309T>C (p.Ile5103=) c.2430T>C (p.Ile810=) c.534T>C (p.Ile178=) n.3316T>C c.15462T>C (p.Ile5154=) c.15459T>C (p.Ile5153=) c.15447T>C (p.Ile5149=) c.15444T>C (p.Ile5148=) c.15438T>C (p.Ile5146=) c.15429T>C (p.Ile5143=) c.15378T>C (p.Ile5126=) c.15375T>C (p.Ile5125=) c.15342T>C (p.Ile5114=) c.15339T>C (p.Ile5113=) c.15306T>C (p.Ile5102=) c.15576T>C (p.Ile5192=) c.15573T>C (p.Ile5191=) c.15561T>C (p.Ile5187=) c.15558T>C (p.Ile5186=) c.15552T>C (p.Ile5184=) c.15543T>C (p.Ile5181=) c.15492T>C (p.Ile5164=) c.15489T>C (p.Ile5163=) c.15456T>C (p.Ile5152=) c.15453T>C (p.Ile5151=) c.15420T>C (p.Ile5140=) c.15555T>C (p.Ile5185=) c.15528T>C (p.Ile5176=) c.15474T>C (p.Ile5158=) c.15441T>C (p.Ile5147=) c.15417T>C (p.Ile5139=) c.15369T>C (p.Ile5123=) c.15318T>C (p.Ile5106=) | |
1 | g.19077991A>T | CA416453030 | UBR4 | c.15309T>A (p.Ile5103=) c.2430T>A (p.Ile810=) c.534T>A (p.Ile178=) n.3316T>A c.15462T>A (p.Ile5154=) c.15459T>A (p.Ile5153=) c.15447T>A (p.Ile5149=) c.15444T>A (p.Ile5148=) c.15438T>A (p.Ile5146=) c.15429T>A (p.Ile5143=) c.15378T>A (p.Ile5126=) c.15375T>A (p.Ile5125=) c.15342T>A (p.Ile5114=) c.15339T>A (p.Ile5113=) c.15306T>A (p.Ile5102=) c.15576T>A (p.Ile5192=) c.15573T>A (p.Ile5191=) c.15561T>A (p.Ile5187=) c.15558T>A (p.Ile5186=) c.15552T>A (p.Ile5184=) c.15543T>A (p.Ile5181=) c.15492T>A (p.Ile5164=) c.15489T>A (p.Ile5163=) c.15456T>A (p.Ile5152=) c.15453T>A (p.Ile5151=) c.15420T>A (p.Ile5140=) c.15555T>A (p.Ile5185=) c.15528T>A (p.Ile5176=) c.15474T>A (p.Ile5158=) c.15441T>A (p.Ile5147=) c.15417T>A (p.Ile5139=) c.15369T>A (p.Ile5123=) c.15318T>A (p.Ile5106=) | |
1 | g.19077992A>C | CA338748102 | UBR4 | c.15308T>G (p.Ile5103Ser) c.2429T>G (p.Ile810Ser) c.533T>G (p.Ile178Ser) n.3315T>G c.15461T>G (p.Ile5154Ser) c.15458T>G (p.Ile5153Ser) c.15446T>G (p.Ile5149Ser) c.15443T>G (p.Ile5148Ser) c.15437T>G (p.Ile5146Ser) c.15428T>G (p.Ile5143Ser) c.15377T>G (p.Ile5126Ser) c.15374T>G (p.Ile5125Ser) c.15341T>G (p.Ile5114Ser) c.15338T>G (p.Ile5113Ser) c.15305T>G (p.Ile5102Ser) c.15575T>G (p.Ile5192Ser) c.15572T>G (p.Ile5191Ser) c.15560T>G (p.Ile5187Ser) c.15557T>G (p.Ile5186Ser) c.15551T>G (p.Ile5184Ser) c.15542T>G (p.Ile5181Ser) c.15491T>G (p.Ile5164Ser) c.15488T>G (p.Ile5163Ser) c.15455T>G (p.Ile5152Ser) c.15452T>G (p.Ile5151Ser) c.15419T>G (p.Ile5140Ser) c.15554T>G (p.Ile5185Ser) c.15527T>G (p.Ile5176Ser) c.15473T>G (p.Ile5158Ser) c.15440T>G (p.Ile5147Ser) c.15416T>G (p.Ile5139Ser) c.15368T>G (p.Ile5123Ser) c.15317T>G (p.Ile5106Ser) | |
1 | g.19077992A>G | CA338748104 | UBR4 | c.15308T>C (p.Ile5103Thr) c.2429T>C (p.Ile810Thr) c.533T>C (p.Ile178Thr) n.3315T>C c.15461T>C (p.Ile5154Thr) c.15458T>C (p.Ile5153Thr) c.15446T>C (p.Ile5149Thr) c.15443T>C (p.Ile5148Thr) c.15437T>C (p.Ile5146Thr) c.15428T>C (p.Ile5143Thr) c.15377T>C (p.Ile5126Thr) c.15374T>C (p.Ile5125Thr) c.15341T>C (p.Ile5114Thr) c.15338T>C (p.Ile5113Thr) c.15305T>C (p.Ile5102Thr) c.15575T>C (p.Ile5192Thr) c.15572T>C (p.Ile5191Thr) c.15560T>C (p.Ile5187Thr) c.15557T>C (p.Ile5186Thr) c.15551T>C (p.Ile5184Thr) c.15542T>C (p.Ile5181Thr) c.15491T>C (p.Ile5164Thr) c.15488T>C (p.Ile5163Thr) c.15455T>C (p.Ile5152Thr) c.15452T>C (p.Ile5151Thr) c.15419T>C (p.Ile5140Thr) c.15554T>C (p.Ile5185Thr) c.15527T>C (p.Ile5176Thr) c.15473T>C (p.Ile5158Thr) c.15440T>C (p.Ile5147Thr) c.15416T>C (p.Ile5139Thr) c.15368T>C (p.Ile5123Thr) c.15317T>C (p.Ile5106Thr) | |
1 | g.19077992A>T | CA338748106 | UBR4 | c.15308T>A (p.Ile5103Asn) c.2429T>A (p.Ile810Asn) c.533T>A (p.Ile178Asn) n.3315T>A c.15461T>A (p.Ile5154Asn) c.15458T>A (p.Ile5153Asn) c.15446T>A (p.Ile5149Asn) c.15443T>A (p.Ile5148Asn) c.15437T>A (p.Ile5146Asn) c.15428T>A (p.Ile5143Asn) c.15377T>A (p.Ile5126Asn) c.15374T>A (p.Ile5125Asn) c.15341T>A (p.Ile5114Asn) c.15338T>A (p.Ile5113Asn) c.15305T>A (p.Ile5102Asn) c.15575T>A (p.Ile5192Asn) c.15572T>A (p.Ile5191Asn) c.15560T>A (p.Ile5187Asn) c.15557T>A (p.Ile5186Asn) c.15551T>A (p.Ile5184Asn) c.15542T>A (p.Ile5181Asn) c.15491T>A (p.Ile5164Asn) c.15488T>A (p.Ile5163Asn) c.15455T>A (p.Ile5152Asn) c.15452T>A (p.Ile5151Asn) c.15419T>A (p.Ile5140Asn) c.15554T>A (p.Ile5185Asn) c.15527T>A (p.Ile5176Asn) c.15473T>A (p.Ile5158Asn) c.15440T>A (p.Ile5147Asn) c.15416T>A (p.Ile5139Asn) c.15368T>A (p.Ile5123Asn) c.15317T>A (p.Ile5106Asn) | |
1 | g.19077993T>A | CA338748107 | UBR4 | c.15307A>T (p.Ile5103Phe) c.2428A>T (p.Ile810Phe) c.532A>T (p.Ile178Phe) n.3314A>T c.15460A>T (p.Ile5154Phe) c.15457A>T (p.Ile5153Phe) c.15445A>T (p.Ile5149Phe) c.15442A>T (p.Ile5148Phe) c.15436A>T (p.Ile5146Phe) c.15427A>T (p.Ile5143Phe) c.15376A>T (p.Ile5126Phe) c.15373A>T (p.Ile5125Phe) c.15340A>T (p.Ile5114Phe) c.15337A>T (p.Ile5113Phe) c.15304A>T (p.Ile5102Phe) c.15574A>T (p.Ile5192Phe) c.15571A>T (p.Ile5191Phe) c.15559A>T (p.Ile5187Phe) c.15556A>T (p.Ile5186Phe) c.15550A>T (p.Ile5184Phe) c.15541A>T (p.Ile5181Phe) c.15490A>T (p.Ile5164Phe) c.15487A>T (p.Ile5163Phe) c.15454A>T (p.Ile5152Phe) c.15451A>T (p.Ile5151Phe) c.15418A>T (p.Ile5140Phe) c.15553A>T (p.Ile5185Phe) c.15526A>T (p.Ile5176Phe) c.15472A>T (p.Ile5158Phe) c.15439A>T (p.Ile5147Phe) c.15415A>T (p.Ile5139Phe) c.15367A>T (p.Ile5123Phe) c.15316A>T (p.Ile5106Phe) | |
1 | g.19077993T>C | CA647911 | UBR4 | c.15307A>G (p.Ile5103Val) c.2428A>G (p.Ile810Val) c.532A>G (p.Ile178Val) n.3314A>G c.15460A>G (p.Ile5154Val) c.15457A>G (p.Ile5153Val) c.15445A>G (p.Ile5149Val) c.15442A>G (p.Ile5148Val) c.15436A>G (p.Ile5146Val) c.15427A>G (p.Ile5143Val) c.15376A>G (p.Ile5126Val) c.15373A>G (p.Ile5125Val) c.15340A>G (p.Ile5114Val) c.15337A>G (p.Ile5113Val) c.15304A>G (p.Ile5102Val) c.15574A>G (p.Ile5192Val) c.15571A>G (p.Ile5191Val) c.15559A>G (p.Ile5187Val) c.15556A>G (p.Ile5186Val) c.15550A>G (p.Ile5184Val) c.15541A>G (p.Ile5181Val) c.15490A>G (p.Ile5164Val) c.15487A>G (p.Ile5163Val) c.15454A>G (p.Ile5152Val) c.15451A>G (p.Ile5151Val) c.15418A>G (p.Ile5140Val) c.15553A>G (p.Ile5185Val) c.15526A>G (p.Ile5176Val) c.15472A>G (p.Ile5158Val) c.15439A>G (p.Ile5147Val) c.15415A>G (p.Ile5139Val) c.15367A>G (p.Ile5123Val) c.15316A>G (p.Ile5106Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.19077993T>G | CA338748109 | UBR4 | c.15307A>C (p.Ile5103Leu) c.2428A>C (p.Ile810Leu) c.532A>C (p.Ile178Leu) n.3314A>C c.15460A>C (p.Ile5154Leu) c.15457A>C (p.Ile5153Leu) c.15445A>C (p.Ile5149Leu) c.15442A>C (p.Ile5148Leu) c.15436A>C (p.Ile5146Leu) c.15427A>C (p.Ile5143Leu) c.15376A>C (p.Ile5126Leu) c.15373A>C (p.Ile5125Leu) c.15340A>C (p.Ile5114Leu) c.15337A>C (p.Ile5113Leu) c.15304A>C (p.Ile5102Leu) c.15574A>C (p.Ile5192Leu) c.15571A>C (p.Ile5191Leu) c.15559A>C (p.Ile5187Leu) c.15556A>C (p.Ile5186Leu) c.15550A>C (p.Ile5184Leu) c.15541A>C (p.Ile5181Leu) c.15490A>C (p.Ile5164Leu) c.15487A>C (p.Ile5163Leu) c.15454A>C (p.Ile5152Leu) c.15451A>C (p.Ile5151Leu) c.15418A>C (p.Ile5140Leu) c.15553A>C (p.Ile5185Leu) c.15526A>C (p.Ile5176Leu) c.15472A>C (p.Ile5158Leu) c.15439A>C (p.Ile5147Leu) c.15415A>C (p.Ile5139Leu) c.15367A>C (p.Ile5123Leu) c.15316A>C (p.Ile5106Leu) | |
1 | g.19077993T= | CA1156956069 | UBR4 | c.15307A= (p.Ile5103=) c.2428A= (p.Ile810=) c.532A= (p.Ile178=) n.3314A= c.15460A= (p.Ile5154=) c.15457A= (p.Ile5153=) c.15445A= (p.Ile5149=) c.15442A= (p.Ile5148=) c.15436A= (p.Ile5146=) c.15427A= (p.Ile5143=) c.15376A= (p.Ile5126=) c.15373A= (p.Ile5125=) c.15340A= (p.Ile5114=) c.15337A= (p.Ile5113=) c.15304A= (p.Ile5102=) c.15574A= (p.Ile5192=) c.15571A= (p.Ile5191=) c.15559A= (p.Ile5187=) c.15556A= (p.Ile5186=) c.15550A= (p.Ile5184=) c.15541A= (p.Ile5181=) c.15490A= (p.Ile5164=) c.15487A= (p.Ile5163=) c.15454A= (p.Ile5152=) c.15451A= (p.Ile5151=) c.15418A= (p.Ile5140=) c.15553A= (p.Ile5185=) c.15526A= (p.Ile5176=) c.15472A= (p.Ile5158=) c.15439A= (p.Ile5147=) c.15415A= (p.Ile5139=) c.15367A= (p.Ile5123=) c.15316A= (p.Ile5106=) | |
1 | g.19077994G>A | CA416453041 | UBR4 | c.15306C>T (p.Leu5102=) c.2427C>T (p.Leu809=) c.531C>T (p.Leu177=) n.3313C>T c.15459C>T (p.Leu5153=) c.15456C>T (p.Leu5152=) c.15444C>T (p.Leu5148=) c.15441C>T (p.Leu5147=) c.15435C>T (p.Leu5145=) c.15426C>T (p.Leu5142=) c.15375C>T (p.Leu5125=) c.15372C>T (p.Leu5124=) c.15339C>T (p.Leu5113=) c.15336C>T (p.Leu5112=) c.15303C>T (p.Leu5101=) c.15573C>T (p.Leu5191=) c.15570C>T (p.Leu5190=) c.15558C>T (p.Leu5186=) c.15555C>T (p.Leu5185=) c.15549C>T (p.Leu5183=) c.15540C>T (p.Leu5180=) c.15489C>T (p.Leu5163=) c.15486C>T (p.Leu5162=) c.15453C>T (p.Leu5151=) c.15450C>T (p.Leu5150=) c.15417C>T (p.Leu5139=) c.15552C>T (p.Leu5184=) c.15525C>T (p.Leu5175=) c.15471C>T (p.Leu5157=) c.15438C>T (p.Leu5146=) c.15414C>T (p.Leu5138=) c.15366C>T (p.Leu5122=) c.15315C>T (p.Leu5105=) | |
1 | g.19077994G>C | CA416453043 | UBR4 | c.15306C>G (p.Leu5102=) c.2427C>G (p.Leu809=) c.531C>G (p.Leu177=) n.3313C>G c.15459C>G (p.Leu5153=) c.15456C>G (p.Leu5152=) c.15444C>G (p.Leu5148=) c.15441C>G (p.Leu5147=) c.15435C>G (p.Leu5145=) c.15426C>G (p.Leu5142=) c.15375C>G (p.Leu5125=) c.15372C>G (p.Leu5124=) c.15339C>G (p.Leu5113=) c.15336C>G (p.Leu5112=) c.15303C>G (p.Leu5101=) c.15573C>G (p.Leu5191=) c.15570C>G (p.Leu5190=) c.15558C>G (p.Leu5186=) c.15555C>G (p.Leu5185=) c.15549C>G (p.Leu5183=) c.15540C>G (p.Leu5180=) c.15489C>G (p.Leu5163=) c.15486C>G (p.Leu5162=) c.15453C>G (p.Leu5151=) c.15450C>G (p.Leu5150=) c.15417C>G (p.Leu5139=) c.15552C>G (p.Leu5184=) c.15525C>G (p.Leu5175=) c.15471C>G (p.Leu5157=) c.15438C>G (p.Leu5146=) c.15414C>G (p.Leu5138=) c.15366C>G (p.Leu5122=) c.15315C>G (p.Leu5105=) | |
1 | g.19077994G>T | CA416453044 | UBR4 | c.15306C>A (p.Leu5102=) c.2427C>A (p.Leu809=) c.531C>A (p.Leu177=) n.3313C>A c.15459C>A (p.Leu5153=) c.15456C>A (p.Leu5152=) c.15444C>A (p.Leu5148=) c.15441C>A (p.Leu5147=) c.15435C>A (p.Leu5145=) c.15426C>A (p.Leu5142=) c.15375C>A (p.Leu5125=) c.15372C>A (p.Leu5124=) c.15339C>A (p.Leu5113=) c.15336C>A (p.Leu5112=) c.15303C>A (p.Leu5101=) c.15573C>A (p.Leu5191=) c.15570C>A (p.Leu5190=) c.15558C>A (p.Leu5186=) c.15555C>A (p.Leu5185=) c.15549C>A (p.Leu5183=) c.15540C>A (p.Leu5180=) c.15489C>A (p.Leu5163=) c.15486C>A (p.Leu5162=) c.15453C>A (p.Leu5151=) c.15450C>A (p.Leu5150=) c.15417C>A (p.Leu5139=) c.15552C>A (p.Leu5184=) c.15525C>A (p.Leu5175=) c.15471C>A (p.Leu5157=) c.15438C>A (p.Leu5146=) c.15414C>A (p.Leu5138=) c.15366C>A (p.Leu5122=) c.15315C>A (p.Leu5105=) | |
1 | g.19077995A>C | CA338748113 | UBR4 | c.15305T>G (p.Leu5102Arg) c.2426T>G (p.Leu809Arg) c.530T>G (p.Leu177Arg) n.3312T>G c.15458T>G (p.Leu5153Arg) c.15455T>G (p.Leu5152Arg) c.15443T>G (p.Leu5148Arg) c.15440T>G (p.Leu5147Arg) c.15434T>G (p.Leu5145Arg) c.15425T>G (p.Leu5142Arg) c.15374T>G (p.Leu5125Arg) c.15371T>G (p.Leu5124Arg) c.15338T>G (p.Leu5113Arg) c.15335T>G (p.Leu5112Arg) c.15302T>G (p.Leu5101Arg) c.15572T>G (p.Leu5191Arg) c.15569T>G (p.Leu5190Arg) c.15557T>G (p.Leu5186Arg) c.15554T>G (p.Leu5185Arg) c.15548T>G (p.Leu5183Arg) c.15539T>G (p.Leu5180Arg) c.15488T>G (p.Leu5163Arg) c.15485T>G (p.Leu5162Arg) c.15452T>G (p.Leu5151Arg) c.15449T>G (p.Leu5150Arg) c.15416T>G (p.Leu5139Arg) c.15551T>G (p.Leu5184Arg) c.15524T>G (p.Leu5175Arg) c.15470T>G (p.Leu5157Arg) c.15437T>G (p.Leu5146Arg) c.15413T>G (p.Leu5138Arg) c.15365T>G (p.Leu5122Arg) c.15314T>G (p.Leu5105Arg) | |
1 | g.19077995A>G | CA338748115 | UBR4 | c.15305T>C (p.Leu5102Pro) c.2426T>C (p.Leu809Pro) c.530T>C (p.Leu177Pro) n.3312T>C c.15458T>C (p.Leu5153Pro) c.15455T>C (p.Leu5152Pro) c.15443T>C (p.Leu5148Pro) c.15440T>C (p.Leu5147Pro) c.15434T>C (p.Leu5145Pro) c.15425T>C (p.Leu5142Pro) c.15374T>C (p.Leu5125Pro) c.15371T>C (p.Leu5124Pro) c.15338T>C (p.Leu5113Pro) c.15335T>C (p.Leu5112Pro) c.15302T>C (p.Leu5101Pro) c.15572T>C (p.Leu5191Pro) c.15569T>C (p.Leu5190Pro) c.15557T>C (p.Leu5186Pro) c.15554T>C (p.Leu5185Pro) c.15548T>C (p.Leu5183Pro) c.15539T>C (p.Leu5180Pro) c.15488T>C (p.Leu5163Pro) c.15485T>C (p.Leu5162Pro) c.15452T>C (p.Leu5151Pro) c.15449T>C (p.Leu5150Pro) c.15416T>C (p.Leu5139Pro) c.15551T>C (p.Leu5184Pro) c.15524T>C (p.Leu5175Pro) c.15470T>C (p.Leu5157Pro) c.15437T>C (p.Leu5146Pro) c.15413T>C (p.Leu5138Pro) c.15365T>C (p.Leu5122Pro) c.15314T>C (p.Leu5105Pro) | |
1 | g.19077995A>T | CA338748117 | UBR4 | c.15305T>A (p.Leu5102His) c.2426T>A (p.Leu809His) c.530T>A (p.Leu177His) n.3312T>A c.15458T>A (p.Leu5153His) c.15455T>A (p.Leu5152His) c.15443T>A (p.Leu5148His) c.15440T>A (p.Leu5147His) c.15434T>A (p.Leu5145His) c.15425T>A (p.Leu5142His) c.15374T>A (p.Leu5125His) c.15371T>A (p.Leu5124His) c.15338T>A (p.Leu5113His) c.15335T>A (p.Leu5112His) c.15302T>A (p.Leu5101His) c.15572T>A (p.Leu5191His) c.15569T>A (p.Leu5190His) c.15557T>A (p.Leu5186His) c.15554T>A (p.Leu5185His) c.15548T>A (p.Leu5183His) c.15539T>A (p.Leu5180His) c.15488T>A (p.Leu5163His) c.15485T>A (p.Leu5162His) c.15452T>A (p.Leu5151His) c.15449T>A (p.Leu5150His) c.15416T>A (p.Leu5139His) c.15551T>A (p.Leu5184His) c.15524T>A (p.Leu5175His) c.15470T>A (p.Leu5157His) c.15437T>A (p.Leu5146His) c.15413T>A (p.Leu5138His) c.15365T>A (p.Leu5122His) c.15314T>A (p.Leu5105His) | |
1 | g.19077996G>A | CA338748119 | UBR4 | c.15304C>T (p.Leu5102Phe) c.2425C>T (p.Leu809Phe) c.529C>T (p.Leu177Phe) n.3311C>T c.15457C>T (p.Leu5153Phe) c.15454C>T (p.Leu5152Phe) c.15442C>T (p.Leu5148Phe) c.15439C>T (p.Leu5147Phe) c.15433C>T (p.Leu5145Phe) c.15424C>T (p.Leu5142Phe) c.15373C>T (p.Leu5125Phe) c.15370C>T (p.Leu5124Phe) c.15337C>T (p.Leu5113Phe) c.15334C>T (p.Leu5112Phe) c.15301C>T (p.Leu5101Phe) c.15571C>T (p.Leu5191Phe) c.15568C>T (p.Leu5190Phe) c.15556C>T (p.Leu5186Phe) c.15553C>T (p.Leu5185Phe) c.15547C>T (p.Leu5183Phe) c.15538C>T (p.Leu5180Phe) c.15487C>T (p.Leu5163Phe) c.15484C>T (p.Leu5162Phe) c.15451C>T (p.Leu5151Phe) c.15448C>T (p.Leu5150Phe) c.15415C>T (p.Leu5139Phe) c.15550C>T (p.Leu5184Phe) c.15523C>T (p.Leu5175Phe) c.15469C>T (p.Leu5157Phe) c.15436C>T (p.Leu5146Phe) c.15412C>T (p.Leu5138Phe) c.15364C>T (p.Leu5122Phe) c.15313C>T (p.Leu5105Phe) | dbSNP |
1 | g.19077996G>C | CA338748121 | UBR4 | c.15304C>G (p.Leu5102Val) c.2425C>G (p.Leu809Val) c.529C>G (p.Leu177Val) n.3311C>G c.15457C>G (p.Leu5153Val) c.15454C>G (p.Leu5152Val) c.15442C>G (p.Leu5148Val) c.15439C>G (p.Leu5147Val) c.15433C>G (p.Leu5145Val) c.15424C>G (p.Leu5142Val) c.15373C>G (p.Leu5125Val) c.15370C>G (p.Leu5124Val) c.15337C>G (p.Leu5113Val) c.15334C>G (p.Leu5112Val) c.15301C>G (p.Leu5101Val) c.15571C>G (p.Leu5191Val) c.15568C>G (p.Leu5190Val) c.15556C>G (p.Leu5186Val) c.15553C>G (p.Leu5185Val) c.15547C>G (p.Leu5183Val) c.15538C>G (p.Leu5180Val) c.15487C>G (p.Leu5163Val) c.15484C>G (p.Leu5162Val) c.15451C>G (p.Leu5151Val) c.15448C>G (p.Leu5150Val) c.15415C>G (p.Leu5139Val) c.15550C>G (p.Leu5184Val) c.15523C>G (p.Leu5175Val) c.15469C>G (p.Leu5157Val) c.15436C>G (p.Leu5146Val) c.15412C>G (p.Leu5138Val) c.15364C>G (p.Leu5122Val) c.15313C>G (p.Leu5105Val) | |
1 | g.19077996G= | CA1156956070 | UBR4 | c.15304C= (p.Leu5102=) c.2425C= (p.Leu809=) c.529C= (p.Leu177=) n.3311C= c.15457C= (p.Leu5153=) c.15454C= (p.Leu5152=) c.15442C= (p.Leu5148=) c.15439C= (p.Leu5147=) c.15433C= (p.Leu5145=) c.15424C= (p.Leu5142=) c.15373C= (p.Leu5125=) c.15370C= (p.Leu5124=) c.15337C= (p.Leu5113=) c.15334C= (p.Leu5112=) c.15301C= (p.Leu5101=) c.15571C= (p.Leu5191=) c.15568C= (p.Leu5190=) c.15556C= (p.Leu5186=) c.15553C= (p.Leu5185=) c.15547C= (p.Leu5183=) c.15538C= (p.Leu5180=) c.15487C= (p.Leu5163=) c.15484C= (p.Leu5162=) c.15451C= (p.Leu5151=) c.15448C= (p.Leu5150=) c.15415C= (p.Leu5139=) c.15550C= (p.Leu5184=) c.15523C= (p.Leu5175=) c.15469C= (p.Leu5157=) c.15436C= (p.Leu5146=) c.15412C= (p.Leu5138=) c.15364C= (p.Leu5122=) c.15313C= (p.Leu5105=) | |
1 | g.19077996G>T | CA338748123 | UBR4 | c.15304C>A (p.Leu5102Ile) c.2425C>A (p.Leu809Ile) c.529C>A (p.Leu177Ile) n.3311C>A c.15457C>A (p.Leu5153Ile) c.15454C>A (p.Leu5152Ile) c.15442C>A (p.Leu5148Ile) c.15439C>A (p.Leu5147Ile) c.15433C>A (p.Leu5145Ile) c.15424C>A (p.Leu5142Ile) c.15373C>A (p.Leu5125Ile) c.15370C>A (p.Leu5124Ile) c.15337C>A (p.Leu5113Ile) c.15334C>A (p.Leu5112Ile) c.15301C>A (p.Leu5101Ile) c.15571C>A (p.Leu5191Ile) c.15568C>A (p.Leu5190Ile) c.15556C>A (p.Leu5186Ile) c.15553C>A (p.Leu5185Ile) c.15547C>A (p.Leu5183Ile) c.15538C>A (p.Leu5180Ile) c.15487C>A (p.Leu5163Ile) c.15484C>A (p.Leu5162Ile) c.15451C>A (p.Leu5151Ile) c.15448C>A (p.Leu5150Ile) c.15415C>A (p.Leu5139Ile) c.15550C>A (p.Leu5184Ile) c.15523C>A (p.Leu5175Ile) c.15469C>A (p.Leu5157Ile) c.15436C>A (p.Leu5146Ile) c.15412C>A (p.Leu5138Ile) c.15364C>A (p.Leu5122Ile) c.15313C>A (p.Leu5105Ile) | gnomAD v4 |
1 | g.19077997A= | CA1156956071 | UBR4 | c.15303T= (p.Asp5101=) c.2424T= (p.Asp808=) c.528T= (p.Asp176=) n.3310T= c.15456T= (p.Asp5152=) c.15453T= (p.Asp5151=) c.15441T= (p.Asp5147=) c.15438T= (p.Asp5146=) c.15432T= (p.Asp5144=) c.15423T= (p.Asp5141=) c.15372T= (p.Asp5124=) c.15369T= (p.Asp5123=) c.15336T= (p.Asp5112=) c.15333T= (p.Asp5111=) c.15300T= (p.Asp5100=) c.15570T= (p.Asp5190=) c.15567T= (p.Asp5189=) c.15555T= (p.Asp5185=) c.15552T= (p.Asp5184=) c.15546T= (p.Asp5182=) c.15537T= (p.Asp5179=) c.15486T= (p.Asp5162=) c.15483T= (p.Asp5161=) c.15450T= (p.Asp5150=) c.15447T= (p.Asp5149=) c.15414T= (p.Asp5138=) c.15549T= (p.Asp5183=) c.15522T= (p.Asp5174=) c.15468T= (p.Asp5156=) c.15435T= (p.Asp5145=) c.15411T= (p.Asp5137=) c.15363T= (p.Asp5121=) c.15312T= (p.Asp5104=) | |
1 | g.19077997A>C | CA338748125 | UBR4 | c.15303T>G (p.Asp5101Glu) c.2424T>G (p.Asp808Glu) c.528T>G (p.Asp176Glu) n.3310T>G c.15456T>G (p.Asp5152Glu) c.15453T>G (p.Asp5151Glu) c.15441T>G (p.Asp5147Glu) c.15438T>G (p.Asp5146Glu) c.15432T>G (p.Asp5144Glu) c.15423T>G (p.Asp5141Glu) c.15372T>G (p.Asp5124Glu) c.15369T>G (p.Asp5123Glu) c.15336T>G (p.Asp5112Glu) c.15333T>G (p.Asp5111Glu) c.15300T>G (p.Asp5100Glu) c.15570T>G (p.Asp5190Glu) c.15567T>G (p.Asp5189Glu) c.15555T>G (p.Asp5185Glu) c.15552T>G (p.Asp5184Glu) c.15546T>G (p.Asp5182Glu) c.15537T>G (p.Asp5179Glu) c.15486T>G (p.Asp5162Glu) c.15483T>G (p.Asp5161Glu) c.15450T>G (p.Asp5150Glu) c.15447T>G (p.Asp5149Glu) c.15414T>G (p.Asp5138Glu) c.15549T>G (p.Asp5183Glu) c.15522T>G (p.Asp5174Glu) c.15468T>G (p.Asp5156Glu) c.15435T>G (p.Asp5145Glu) c.15411T>G (p.Asp5137Glu) c.15363T>G (p.Asp5121Glu) c.15312T>G (p.Asp5104Glu) | |
1 | g.19077997A>G | CA416453054 | UBR4 | c.15303T>C (p.Asp5101=) c.2424T>C (p.Asp808=) c.528T>C (p.Asp176=) n.3310T>C c.15456T>C (p.Asp5152=) c.15453T>C (p.Asp5151=) c.15441T>C (p.Asp5147=) c.15438T>C (p.Asp5146=) c.15432T>C (p.Asp5144=) c.15423T>C (p.Asp5141=) c.15372T>C (p.Asp5124=) c.15369T>C (p.Asp5123=) c.15336T>C (p.Asp5112=) c.15333T>C (p.Asp5111=) c.15300T>C (p.Asp5100=) c.15570T>C (p.Asp5190=) c.15567T>C (p.Asp5189=) c.15555T>C (p.Asp5185=) c.15552T>C (p.Asp5184=) c.15546T>C (p.Asp5182=) c.15537T>C (p.Asp5179=) c.15486T>C (p.Asp5162=) c.15483T>C (p.Asp5161=) c.15450T>C (p.Asp5150=) c.15447T>C (p.Asp5149=) c.15414T>C (p.Asp5138=) c.15549T>C (p.Asp5183=) c.15522T>C (p.Asp5174=) c.15468T>C (p.Asp5156=) c.15435T>C (p.Asp5145=) c.15411T>C (p.Asp5137=) c.15363T>C (p.Asp5121=) c.15312T>C (p.Asp5104=) | dbSNP gnomAD v4 |
1 | g.19077997A>T | CA338748127 | UBR4 | c.15303T>A (p.Asp5101Glu) c.2424T>A (p.Asp808Glu) c.528T>A (p.Asp176Glu) n.3310T>A c.15456T>A (p.Asp5152Glu) c.15453T>A (p.Asp5151Glu) c.15441T>A (p.Asp5147Glu) c.15438T>A (p.Asp5146Glu) c.15432T>A (p.Asp5144Glu) c.15423T>A (p.Asp5141Glu) c.15372T>A (p.Asp5124Glu) c.15369T>A (p.Asp5123Glu) c.15336T>A (p.Asp5112Glu) c.15333T>A (p.Asp5111Glu) c.15300T>A (p.Asp5100Glu) c.15570T>A (p.Asp5190Glu) c.15567T>A (p.Asp5189Glu) c.15555T>A (p.Asp5185Glu) c.15552T>A (p.Asp5184Glu) c.15546T>A (p.Asp5182Glu) c.15537T>A (p.Asp5179Glu) c.15486T>A (p.Asp5162Glu) c.15483T>A (p.Asp5161Glu) c.15450T>A (p.Asp5150Glu) c.15447T>A (p.Asp5149Glu) c.15414T>A (p.Asp5138Glu) c.15549T>A (p.Asp5183Glu) c.15522T>A (p.Asp5174Glu) c.15468T>A (p.Asp5156Glu) c.15435T>A (p.Asp5145Glu) c.15411T>A (p.Asp5137Glu) c.15363T>A (p.Asp5121Glu) c.15312T>A (p.Asp5104Glu) | |
1 | g.19077998T>A | CA338748129 | UBR4 | c.15302A>T (p.Asp5101Val) c.2423A>T (p.Asp808Val) c.527A>T (p.Asp176Val) n.3309A>T c.15455A>T (p.Asp5152Val) c.15452A>T (p.Asp5151Val) c.15440A>T (p.Asp5147Val) c.15437A>T (p.Asp5146Val) c.15431A>T (p.Asp5144Val) c.15422A>T (p.Asp5141Val) c.15371A>T (p.Asp5124Val) c.15368A>T (p.Asp5123Val) c.15335A>T (p.Asp5112Val) c.15332A>T (p.Asp5111Val) c.15299A>T (p.Asp5100Val) c.15569A>T (p.Asp5190Val) c.15566A>T (p.Asp5189Val) c.15554A>T (p.Asp5185Val) c.15551A>T (p.Asp5184Val) c.15545A>T (p.Asp5182Val) c.15536A>T (p.Asp5179Val) c.15485A>T (p.Asp5162Val) c.15482A>T (p.Asp5161Val) c.15449A>T (p.Asp5150Val) c.15446A>T (p.Asp5149Val) c.15413A>T (p.Asp5138Val) c.15548A>T (p.Asp5183Val) c.15521A>T (p.Asp5174Val) c.15467A>T (p.Asp5156Val) c.15434A>T (p.Asp5145Val) c.15410A>T (p.Asp5137Val) c.15362A>T (p.Asp5121Val) c.15311A>T (p.Asp5104Val) | |
1 | g.19077998T>C | CA338748130 | UBR4 | c.15302A>G (p.Asp5101Gly) c.2423A>G (p.Asp808Gly) c.527A>G (p.Asp176Gly) n.3309A>G c.15455A>G (p.Asp5152Gly) c.15452A>G (p.Asp5151Gly) c.15440A>G (p.Asp5147Gly) c.15437A>G (p.Asp5146Gly) c.15431A>G (p.Asp5144Gly) c.15422A>G (p.Asp5141Gly) c.15371A>G (p.Asp5124Gly) c.15368A>G (p.Asp5123Gly) c.15335A>G (p.Asp5112Gly) c.15332A>G (p.Asp5111Gly) c.15299A>G (p.Asp5100Gly) c.15569A>G (p.Asp5190Gly) c.15566A>G (p.Asp5189Gly) c.15554A>G (p.Asp5185Gly) c.15551A>G (p.Asp5184Gly) c.15545A>G (p.Asp5182Gly) c.15536A>G (p.Asp5179Gly) c.15485A>G (p.Asp5162Gly) c.15482A>G (p.Asp5161Gly) c.15449A>G (p.Asp5150Gly) c.15446A>G (p.Asp5149Gly) c.15413A>G (p.Asp5138Gly) c.15548A>G (p.Asp5183Gly) c.15521A>G (p.Asp5174Gly) c.15467A>G (p.Asp5156Gly) c.15434A>G (p.Asp5145Gly) c.15410A>G (p.Asp5137Gly) c.15362A>G (p.Asp5121Gly) c.15311A>G (p.Asp5104Gly) | |
1 | g.19077998T>G | CA338748131 | UBR4 | c.15302A>C (p.Asp5101Ala) c.2423A>C (p.Asp808Ala) c.527A>C (p.Asp176Ala) n.3309A>C c.15455A>C (p.Asp5152Ala) c.15452A>C (p.Asp5151Ala) c.15440A>C (p.Asp5147Ala) c.15437A>C (p.Asp5146Ala) c.15431A>C (p.Asp5144Ala) c.15422A>C (p.Asp5141Ala) c.15371A>C (p.Asp5124Ala) c.15368A>C (p.Asp5123Ala) c.15335A>C (p.Asp5112Ala) c.15332A>C (p.Asp5111Ala) c.15299A>C (p.Asp5100Ala) c.15569A>C (p.Asp5190Ala) c.15566A>C (p.Asp5189Ala) c.15554A>C (p.Asp5185Ala) c.15551A>C (p.Asp5184Ala) c.15545A>C (p.Asp5182Ala) c.15536A>C (p.Asp5179Ala) c.15485A>C (p.Asp5162Ala) c.15482A>C (p.Asp5161Ala) c.15449A>C (p.Asp5150Ala) c.15446A>C (p.Asp5149Ala) c.15413A>C (p.Asp5138Ala) c.15548A>C (p.Asp5183Ala) c.15521A>C (p.Asp5174Ala) c.15467A>C (p.Asp5156Ala) c.15434A>C (p.Asp5145Ala) c.15410A>C (p.Asp5137Ala) c.15362A>C (p.Asp5121Ala) c.15311A>C (p.Asp5104Ala) | |
1 | g.19077999C>A | CA338748133 | UBR4 | c.15301G>T (p.Asp5101Tyr) c.2422G>T (p.Asp808Tyr) c.526G>T (p.Asp176Tyr) n.3308G>T c.15454G>T (p.Asp5152Tyr) c.15451G>T (p.Asp5151Tyr) c.15439G>T (p.Asp5147Tyr) c.15436G>T (p.Asp5146Tyr) c.15430G>T (p.Asp5144Tyr) c.15421G>T (p.Asp5141Tyr) c.15370G>T (p.Asp5124Tyr) c.15367G>T (p.Asp5123Tyr) c.15334G>T (p.Asp5112Tyr) c.15331G>T (p.Asp5111Tyr) c.15298G>T (p.Asp5100Tyr) c.15568G>T (p.Asp5190Tyr) c.15565G>T (p.Asp5189Tyr) c.15553G>T (p.Asp5185Tyr) c.15550G>T (p.Asp5184Tyr) c.15544G>T (p.Asp5182Tyr) c.15535G>T (p.Asp5179Tyr) c.15484G>T (p.Asp5162Tyr) c.15481G>T (p.Asp5161Tyr) c.15448G>T (p.Asp5150Tyr) c.15445G>T (p.Asp5149Tyr) c.15412G>T (p.Asp5138Tyr) c.15547G>T (p.Asp5183Tyr) c.15520G>T (p.Asp5174Tyr) c.15466G>T (p.Asp5156Tyr) c.15433G>T (p.Asp5145Tyr) c.15409G>T (p.Asp5137Tyr) c.15361G>T (p.Asp5121Tyr) c.15310G>T (p.Asp5104Tyr) | |
1 | g.19077999C= | CA1156956072 | UBR4 | c.15301G= (p.Asp5101=) c.2422G= (p.Asp808=) c.526G= (p.Asp176=) n.3308G= c.15454G= (p.Asp5152=) c.15451G= (p.Asp5151=) c.15439G= (p.Asp5147=) c.15436G= (p.Asp5146=) c.15430G= (p.Asp5144=) c.15421G= (p.Asp5141=) c.15370G= (p.Asp5124=) c.15367G= (p.Asp5123=) c.15334G= (p.Asp5112=) c.15331G= (p.Asp5111=) c.15298G= (p.Asp5100=) c.15568G= (p.Asp5190=) c.15565G= (p.Asp5189=) c.15553G= (p.Asp5185=) c.15550G= (p.Asp5184=) c.15544G= (p.Asp5182=) c.15535G= (p.Asp5179=) c.15484G= (p.Asp5162=) c.15481G= (p.Asp5161=) c.15448G= (p.Asp5150=) c.15445G= (p.Asp5149=) c.15412G= (p.Asp5138=) c.15547G= (p.Asp5183=) c.15520G= (p.Asp5174=) c.15466G= (p.Asp5156=) c.15433G= (p.Asp5145=) c.15409G= (p.Asp5137=) c.15361G= (p.Asp5121=) c.15310G= (p.Asp5104=) | |
1 | g.19077999C>G | CA338748132 | UBR4 | c.15301G>C (p.Asp5101His) c.2422G>C (p.Asp808His) c.526G>C (p.Asp176His) n.3308G>C c.15454G>C (p.Asp5152His) c.15451G>C (p.Asp5151His) c.15439G>C (p.Asp5147His) c.15436G>C (p.Asp5146His) c.15430G>C (p.Asp5144His) c.15421G>C (p.Asp5141His) c.15370G>C (p.Asp5124His) c.15367G>C (p.Asp5123His) c.15334G>C (p.Asp5112His) c.15331G>C (p.Asp5111His) c.15298G>C (p.Asp5100His) c.15568G>C (p.Asp5190His) c.15565G>C (p.Asp5189His) c.15553G>C (p.Asp5185His) c.15550G>C (p.Asp5184His) c.15544G>C (p.Asp5182His) c.15535G>C (p.Asp5179His) c.15484G>C (p.Asp5162His) c.15481G>C (p.Asp5161His) c.15448G>C (p.Asp5150His) c.15445G>C (p.Asp5149His) c.15412G>C (p.Asp5138His) c.15547G>C (p.Asp5183His) c.15520G>C (p.Asp5174His) c.15466G>C (p.Asp5156His) c.15433G>C (p.Asp5145His) c.15409G>C (p.Asp5137His) c.15361G>C (p.Asp5121His) c.15310G>C (p.Asp5104His) | |
1 | g.19077999C>T | CA647912 | UBR4 | c.15301G>A (p.Asp5101Asn) c.2422G>A (p.Asp808Asn) c.526G>A (p.Asp176Asn) n.3308G>A c.15454G>A (p.Asp5152Asn) c.15451G>A (p.Asp5151Asn) c.15439G>A (p.Asp5147Asn) c.15436G>A (p.Asp5146Asn) c.15430G>A (p.Asp5144Asn) c.15421G>A (p.Asp5141Asn) c.15370G>A (p.Asp5124Asn) c.15367G>A (p.Asp5123Asn) c.15334G>A (p.Asp5112Asn) c.15331G>A (p.Asp5111Asn) c.15298G>A (p.Asp5100Asn) c.15568G>A (p.Asp5190Asn) c.15565G>A (p.Asp5189Asn) c.15553G>A (p.Asp5185Asn) c.15550G>A (p.Asp5184Asn) c.15544G>A (p.Asp5182Asn) c.15535G>A (p.Asp5179Asn) c.15484G>A (p.Asp5162Asn) c.15481G>A (p.Asp5161Asn) c.15448G>A (p.Asp5150Asn) c.15445G>A (p.Asp5149Asn) c.15412G>A (p.Asp5138Asn) c.15547G>A (p.Asp5183Asn) c.15520G>A (p.Asp5174Asn) c.15466G>A (p.Asp5156Asn) c.15433G>A (p.Asp5145Asn) c.15409G>A (p.Asp5137Asn) c.15361G>A (p.Asp5121Asn) c.15310G>A (p.Asp5104Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.19078000G>A | CA647913 | UBR4 | c.15300C>T (p.Val5100=) c.2421C>T (p.Val807=) c.525C>T (p.Val175=) n.3307C>T c.15453C>T (p.Val5151=) c.15450C>T (p.Val5150=) c.15438C>T (p.Val5146=) c.15435C>T (p.Val5145=) c.15429C>T (p.Val5143=) c.15420C>T (p.Val5140=) c.15369C>T (p.Val5123=) c.15366C>T (p.Val5122=) c.15333C>T (p.Val5111=) c.15330C>T (p.Val5110=) c.15297C>T (p.Val5099=) c.15567C>T (p.Val5189=) c.15564C>T (p.Val5188=) c.15552C>T (p.Val5184=) c.15549C>T (p.Val5183=) c.15543C>T (p.Val5181=) c.15534C>T (p.Val5178=) c.15483C>T (p.Val5161=) c.15480C>T (p.Val5160=) c.15447C>T (p.Val5149=) c.15444C>T (p.Val5148=) c.15411C>T (p.Val5137=) c.15546C>T (p.Val5182=) c.15519C>T (p.Val5173=) c.15465C>T (p.Val5155=) c.15432C>T (p.Val5144=) c.15408C>T (p.Val5136=) c.15360C>T (p.Val5120=) c.15309C>T (p.Val5103=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.19078000G>C | CA416453066 | UBR4 | c.15300C>G (p.Val5100=) c.2421C>G (p.Val807=) c.525C>G (p.Val175=) n.3307C>G c.15453C>G (p.Val5151=) c.15450C>G (p.Val5150=) c.15438C>G (p.Val5146=) c.15435C>G (p.Val5145=) c.15429C>G (p.Val5143=) c.15420C>G (p.Val5140=) c.15369C>G (p.Val5123=) c.15366C>G (p.Val5122=) c.15333C>G (p.Val5111=) c.15330C>G (p.Val5110=) c.15297C>G (p.Val5099=) c.15567C>G (p.Val5189=) c.15564C>G (p.Val5188=) c.15552C>G (p.Val5184=) c.15549C>G (p.Val5183=) c.15543C>G (p.Val5181=) c.15534C>G (p.Val5178=) c.15483C>G (p.Val5161=) c.15480C>G (p.Val5160=) c.15447C>G (p.Val5149=) c.15444C>G (p.Val5148=) c.15411C>G (p.Val5137=) c.15546C>G (p.Val5182=) c.15519C>G (p.Val5173=) c.15465C>G (p.Val5155=) c.15432C>G (p.Val5144=) c.15408C>G (p.Val5136=) c.15360C>G (p.Val5120=) c.15309C>G (p.Val5103=) | |
1 | g.19078000G= | CA1148869634 | UBR4 | c.15300C= (p.Val5100=) c.2421C= (p.Val807=) c.525C= (p.Val175=) n.3307C= c.15453C= (p.Val5151=) c.15450C= (p.Val5150=) c.15438C= (p.Val5146=) c.15435C= (p.Val5145=) c.15429C= (p.Val5143=) c.15420C= (p.Val5140=) c.15369C= (p.Val5123=) c.15366C= (p.Val5122=) c.15333C= (p.Val5111=) c.15330C= (p.Val5110=) c.15297C= (p.Val5099=) c.15567C= (p.Val5189=) c.15564C= (p.Val5188=) c.15552C= (p.Val5184=) c.15549C= (p.Val5183=) c.15543C= (p.Val5181=) c.15534C= (p.Val5178=) c.15483C= (p.Val5161=) c.15480C= (p.Val5160=) c.15447C= (p.Val5149=) c.15444C= (p.Val5148=) c.15411C= (p.Val5137=) c.15546C= (p.Val5182=) c.15519C= (p.Val5173=) c.15465C= (p.Val5155=) c.15432C= (p.Val5144=) c.15408C= (p.Val5136=) c.15360C= (p.Val5120=) c.15309C= (p.Val5103=) | |
1 | g.19078000G>T | CA416453068 | UBR4 | c.15300C>A (p.Val5100=) c.2421C>A (p.Val807=) c.525C>A (p.Val175=) n.3307C>A c.15453C>A (p.Val5151=) c.15450C>A (p.Val5150=) c.15438C>A (p.Val5146=) c.15435C>A (p.Val5145=) c.15429C>A (p.Val5143=) c.15420C>A (p.Val5140=) c.15369C>A (p.Val5123=) c.15366C>A (p.Val5122=) c.15333C>A (p.Val5111=) c.15330C>A (p.Val5110=) c.15297C>A (p.Val5099=) c.15567C>A (p.Val5189=) c.15564C>A (p.Val5188=) c.15552C>A (p.Val5184=) c.15549C>A (p.Val5183=) c.15543C>A (p.Val5181=) c.15534C>A (p.Val5178=) c.15483C>A (p.Val5161=) c.15480C>A (p.Val5160=) c.15447C>A (p.Val5149=) c.15444C>A (p.Val5148=) c.15411C>A (p.Val5137=) c.15546C>A (p.Val5182=) c.15519C>A (p.Val5173=) c.15465C>A (p.Val5155=) c.15432C>A (p.Val5144=) c.15408C>A (p.Val5136=) c.15360C>A (p.Val5120=) c.15309C>A (p.Val5103=) | |
1 | g.19078001A>C | CA338748136 | UBR4 | c.15299T>G (p.Val5100Gly) c.2420T>G (p.Val807Gly) c.524T>G (p.Val175Gly) n.3306T>G c.15452T>G (p.Val5151Gly) c.15449T>G (p.Val5150Gly) c.15437T>G (p.Val5146Gly) c.15434T>G (p.Val5145Gly) c.15428T>G (p.Val5143Gly) c.15419T>G (p.Val5140Gly) c.15368T>G (p.Val5123Gly) c.15365T>G (p.Val5122Gly) c.15332T>G (p.Val5111Gly) c.15329T>G (p.Val5110Gly) c.15296T>G (p.Val5099Gly) c.15566T>G (p.Val5189Gly) c.15563T>G (p.Val5188Gly) c.15551T>G (p.Val5184Gly) c.15548T>G (p.Val5183Gly) c.15542T>G (p.Val5181Gly) c.15533T>G (p.Val5178Gly) c.15482T>G (p.Val5161Gly) c.15479T>G (p.Val5160Gly) c.15446T>G (p.Val5149Gly) c.15443T>G (p.Val5148Gly) c.15410T>G (p.Val5137Gly) c.15545T>G (p.Val5182Gly) c.15518T>G (p.Val5173Gly) c.15464T>G (p.Val5155Gly) c.15431T>G (p.Val5144Gly) c.15407T>G (p.Val5136Gly) c.15359T>G (p.Val5120Gly) c.15308T>G (p.Val5103Gly) | |
1 | g.19078001A>G | CA338748134 | UBR4 | c.15299T>C (p.Val5100Ala) c.2420T>C (p.Val807Ala) c.524T>C (p.Val175Ala) n.3306T>C c.15452T>C (p.Val5151Ala) c.15449T>C (p.Val5150Ala) c.15437T>C (p.Val5146Ala) c.15434T>C (p.Val5145Ala) c.15428T>C (p.Val5143Ala) c.15419T>C (p.Val5140Ala) c.15368T>C (p.Val5123Ala) c.15365T>C (p.Val5122Ala) c.15332T>C (p.Val5111Ala) c.15329T>C (p.Val5110Ala) c.15296T>C (p.Val5099Ala) c.15566T>C (p.Val5189Ala) c.15563T>C (p.Val5188Ala) c.15551T>C (p.Val5184Ala) c.15548T>C (p.Val5183Ala) c.15542T>C (p.Val5181Ala) c.15533T>C (p.Val5178Ala) c.15482T>C (p.Val5161Ala) c.15479T>C (p.Val5160Ala) c.15446T>C (p.Val5149Ala) c.15443T>C (p.Val5148Ala) c.15410T>C (p.Val5137Ala) c.15545T>C (p.Val5182Ala) c.15518T>C (p.Val5173Ala) c.15464T>C (p.Val5155Ala) c.15431T>C (p.Val5144Ala) c.15407T>C (p.Val5136Ala) c.15359T>C (p.Val5120Ala) c.15308T>C (p.Val5103Ala) | |
1 | g.19078001A>T | CA338748135 | UBR4 | c.15299T>A (p.Val5100Asp) c.2420T>A (p.Val807Asp) c.524T>A (p.Val175Asp) n.3306T>A c.15452T>A (p.Val5151Asp) c.15449T>A (p.Val5150Asp) c.15437T>A (p.Val5146Asp) c.15434T>A (p.Val5145Asp) c.15428T>A (p.Val5143Asp) c.15419T>A (p.Val5140Asp) c.15368T>A (p.Val5123Asp) c.15365T>A (p.Val5122Asp) c.15332T>A (p.Val5111Asp) c.15329T>A (p.Val5110Asp) c.15296T>A (p.Val5099Asp) c.15566T>A (p.Val5189Asp) c.15563T>A (p.Val5188Asp) c.15551T>A (p.Val5184Asp) c.15548T>A (p.Val5183Asp) c.15542T>A (p.Val5181Asp) c.15533T>A (p.Val5178Asp) c.15482T>A (p.Val5161Asp) c.15479T>A (p.Val5160Asp) c.15446T>A (p.Val5149Asp) c.15443T>A (p.Val5148Asp) c.15410T>A (p.Val5137Asp) c.15545T>A (p.Val5182Asp) c.15518T>A (p.Val5173Asp) c.15464T>A (p.Val5155Asp) c.15431T>A (p.Val5144Asp) c.15407T>A (p.Val5136Asp) c.15359T>A (p.Val5120Asp) c.15308T>A (p.Val5103Asp) | |
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 |