Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.184326837G>A | CA548796067 | EIF2B5,EIF4G1 | c.3326-44G>A (n.3326-44G>A) c.3260-44G>A (n.3260-44G>A) c.2673-44G>A (n.2673-44G>A) c.2732-44G>A (n.2732-44G>A) c.3329-44G>A (n.3329-44G>A) c.2834-44G>A (n.2834-44G>A) c.3347-44G>A (n.3347-44G>A) c.3065-44G>A (n.3065-44G>A) c.3209-44G>A (n.3209-44G>A) c.3206-44G>A (n.3206-44G>A) c.3068-44G>A (n.3068-44G>A) c.2741-44G>A (n.2741-44G>A) c.2738-44G>A (n.2738-44G>A) c.2837-44G>A (n.2837-44G>A) c.*2765-44G>A (n.*2765-44G>A) c.2106+182130G>A (n.2106+182130G>A) c.487-44G>A n.546-44G>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184326837G= | CA1425957669 | EIF2B5,EIF4G1 | c.3326-44G= (n.3326-44G=) c.3260-44G= (n.3260-44G=) c.2673-44G= (n.2673-44G=) c.2732-44G= (n.2732-44G=) c.3329-44G= (n.3329-44G=) c.2834-44G= (n.2834-44G=) c.3347-44G= (n.3347-44G=) c.3065-44G= (n.3065-44G=) c.3209-44G= (n.3209-44G=) c.3206-44G= (n.3206-44G=) c.3068-44G= (n.3068-44G=) c.2741-44G= (n.2741-44G=) c.2738-44G= (n.2738-44G=) c.2837-44G= (n.2837-44G=) c.*2765-44G= (n.*2765-44G=) c.2106+182130G= (n.2106+182130G=) c.487-44G= n.546-44G= | |
3 | g.184326839A= | CA1425957671 | EIF2B5,EIF4G1 | c.3326-42A= (n.3326-42A=) c.3260-42A= (n.3260-42A=) c.2673-42A= (n.2673-42A=) c.2732-42A= (n.2732-42A=) c.3329-42A= (n.3329-42A=) c.2834-42A= (n.2834-42A=) c.3347-42A= (n.3347-42A=) c.3065-42A= (n.3065-42A=) c.3209-42A= (n.3209-42A=) c.3206-42A= (n.3206-42A=) c.3068-42A= (n.3068-42A=) c.2741-42A= (n.2741-42A=) c.2738-42A= (n.2738-42A=) c.2837-42A= (n.2837-42A=) c.*2765-42A= (n.*2765-42A=) c.2106+182132A= (n.2106+182132A=) c.487-42A= n.546-42A= | |
3 | g.184326839A>C | CA2732759 | EIF2B5,EIF4G1 | c.3326-42A>C (n.3326-42A>C) c.3260-42A>C (n.3260-42A>C) c.2673-42A>C (n.2673-42A>C) c.2732-42A>C (n.2732-42A>C) c.3329-42A>C (n.3329-42A>C) c.2834-42A>C (n.2834-42A>C) c.3347-42A>C (n.3347-42A>C) c.3065-42A>C (n.3065-42A>C) c.3209-42A>C (n.3209-42A>C) c.3206-42A>C (n.3206-42A>C) c.3068-42A>C (n.3068-42A>C) c.2741-42A>C (n.2741-42A>C) c.2738-42A>C (n.2738-42A>C) c.2837-42A>C (n.2837-42A>C) c.*2765-42A>C (n.*2765-42A>C) c.2106+182132A>C (n.2106+182132A>C) c.487-42A>C n.546-42A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184326839A>G | CA2577978148 | EIF2B5,EIF4G1 | c.3326-42A>G (n.3326-42A>G) c.3260-42A>G (n.3260-42A>G) c.2673-42A>G (n.2673-42A>G) c.2732-42A>G (n.2732-42A>G) c.3329-42A>G (n.3329-42A>G) c.2834-42A>G (n.2834-42A>G) c.3347-42A>G (n.3347-42A>G) c.3065-42A>G (n.3065-42A>G) c.3209-42A>G (n.3209-42A>G) c.3206-42A>G (n.3206-42A>G) c.3068-42A>G (n.3068-42A>G) c.2741-42A>G (n.2741-42A>G) c.2738-42A>G (n.2738-42A>G) c.2837-42A>G (n.2837-42A>G) c.*2765-42A>G (n.*2765-42A>G) c.2106+182132A>G (n.2106+182132A>G) c.487-42A>G n.546-42A>G | |
3 | g.184326840A= | CA1425957672 | EIF2B5,EIF4G1 | c.3326-41A= (n.3326-41A=) c.3260-41A= (n.3260-41A=) c.2673-41A= (n.2673-41A=) c.2732-41A= (n.2732-41A=) c.3329-41A= (n.3329-41A=) c.2834-41A= (n.2834-41A=) c.3347-41A= (n.3347-41A=) c.3065-41A= (n.3065-41A=) c.3209-41A= (n.3209-41A=) c.3206-41A= (n.3206-41A=) c.3068-41A= (n.3068-41A=) c.2741-41A= (n.2741-41A=) c.2738-41A= (n.2738-41A=) c.2837-41A= (n.2837-41A=) c.*2765-41A= (n.*2765-41A=) c.2106+182133A= (n.2106+182133A=) c.487-41A= n.546-41A= | |
3 | g.184326840A>C | CA2732760 | EIF2B5,EIF4G1 | c.3326-41A>C (n.3326-41A>C) c.3260-41A>C (n.3260-41A>C) c.2673-41A>C (n.2673-41A>C) c.2732-41A>C (n.2732-41A>C) c.3329-41A>C (n.3329-41A>C) c.2834-41A>C (n.2834-41A>C) c.3347-41A>C (n.3347-41A>C) c.3065-41A>C (n.3065-41A>C) c.3209-41A>C (n.3209-41A>C) c.3206-41A>C (n.3206-41A>C) c.3068-41A>C (n.3068-41A>C) c.2741-41A>C (n.2741-41A>C) c.2738-41A>C (n.2738-41A>C) c.2837-41A>C (n.2837-41A>C) c.*2765-41A>C (n.*2765-41A>C) c.2106+182133A>C (n.2106+182133A>C) c.487-41A>C n.546-41A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326841A>G | CA2668839316 | EIF2B5,EIF4G1 | c.3326-40A>G (n.3326-40A>G) c.3260-40A>G (n.3260-40A>G) c.2673-40A>G (n.2673-40A>G) c.2732-40A>G (n.2732-40A>G) c.3329-40A>G (n.3329-40A>G) c.2834-40A>G (n.2834-40A>G) c.3347-40A>G (n.3347-40A>G) c.3065-40A>G (n.3065-40A>G) c.3209-40A>G (n.3209-40A>G) c.3206-40A>G (n.3206-40A>G) c.3068-40A>G (n.3068-40A>G) c.2741-40A>G (n.2741-40A>G) c.2738-40A>G (n.2738-40A>G) c.2837-40A>G (n.2837-40A>G) c.*2765-40A>G (n.*2765-40A>G) c.2106+182134A>G (n.2106+182134A>G) c.487-40A>G n.546-40A>G | gnomAD v4 |
3 | g.184326842G>A | CA2668839319 | EIF2B5,EIF4G1 | c.3326-39G>A (n.3326-39G>A) c.3260-39G>A (n.3260-39G>A) c.2673-39G>A (n.2673-39G>A) c.2732-39G>A (n.2732-39G>A) c.3329-39G>A (n.3329-39G>A) c.2834-39G>A (n.2834-39G>A) c.3347-39G>A (n.3347-39G>A) c.3065-39G>A (n.3065-39G>A) c.3209-39G>A (n.3209-39G>A) c.3206-39G>A (n.3206-39G>A) c.3068-39G>A (n.3068-39G>A) c.2741-39G>A (n.2741-39G>A) c.2738-39G>A (n.2738-39G>A) c.2837-39G>A (n.2837-39G>A) c.*2765-39G>A (n.*2765-39G>A) c.2106+182135G>A (n.2106+182135G>A) c.487-39G>A n.546-39G>A | gnomAD v4 |
3 | g.184326844A= | CA1425957674 | EIF2B5,EIF4G1 | c.3326-37A= (n.3326-37A=) c.3260-37A= (n.3260-37A=) c.2673-37A= (n.2673-37A=) c.2732-37A= (n.2732-37A=) c.3329-37A= (n.3329-37A=) c.2834-37A= (n.2834-37A=) c.3347-37A= (n.3347-37A=) c.3065-37A= (n.3065-37A=) c.3209-37A= (n.3209-37A=) c.3206-37A= (n.3206-37A=) c.3068-37A= (n.3068-37A=) c.2741-37A= (n.2741-37A=) c.2738-37A= (n.2738-37A=) c.2837-37A= (n.2837-37A=) c.*2765-37A= (n.*2765-37A=) c.2106+182137A= (n.2106+182137A=) c.487-37A= n.546-37A= | |
3 | g.184326844A>C | CA548796068 | EIF2B5,EIF4G1 | c.3326-37A>C (n.3326-37A>C) c.3260-37A>C (n.3260-37A>C) c.2673-37A>C (n.2673-37A>C) c.2732-37A>C (n.2732-37A>C) c.3329-37A>C (n.3329-37A>C) c.2834-37A>C (n.2834-37A>C) c.3347-37A>C (n.3347-37A>C) c.3065-37A>C (n.3065-37A>C) c.3209-37A>C (n.3209-37A>C) c.3206-37A>C (n.3206-37A>C) c.3068-37A>C (n.3068-37A>C) c.2741-37A>C (n.2741-37A>C) c.2738-37A>C (n.2738-37A>C) c.2837-37A>C (n.2837-37A>C) c.*2765-37A>C (n.*2765-37A>C) c.2106+182137A>C (n.2106+182137A>C) c.487-37A>C n.546-37A>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184326845G= | CA1425957676 | EIF2B5,EIF4G1 | c.3326-36G= (n.3326-36G=) c.3260-36G= (n.3260-36G=) c.2673-36G= (n.2673-36G=) c.2732-36G= (n.2732-36G=) c.3329-36G= (n.3329-36G=) c.2834-36G= (n.2834-36G=) c.3347-36G= (n.3347-36G=) c.3065-36G= (n.3065-36G=) c.3209-36G= (n.3209-36G=) c.3206-36G= (n.3206-36G=) c.3068-36G= (n.3068-36G=) c.2741-36G= (n.2741-36G=) c.2738-36G= (n.2738-36G=) c.2837-36G= (n.2837-36G=) c.*2765-36G= (n.*2765-36G=) c.2106+182138G= (n.2106+182138G=) c.487-36G= n.546-36G= | |
3 | g.184326845G>T | CA2732761 | EIF2B5,EIF4G1 | c.3326-36G>T (n.3326-36G>T) c.3260-36G>T (n.3260-36G>T) c.2673-36G>T (n.2673-36G>T) c.2732-36G>T (n.2732-36G>T) c.3329-36G>T (n.3329-36G>T) c.2834-36G>T (n.2834-36G>T) c.3347-36G>T (n.3347-36G>T) c.3065-36G>T (n.3065-36G>T) c.3209-36G>T (n.3209-36G>T) c.3206-36G>T (n.3206-36G>T) c.3068-36G>T (n.3068-36G>T) c.2741-36G>T (n.2741-36G>T) c.2738-36G>T (n.2738-36G>T) c.2837-36G>T (n.2837-36G>T) c.*2765-36G>T (n.*2765-36G>T) c.2106+182138G>T (n.2106+182138G>T) c.487-36G>T n.546-36G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326848A= | CA1425957679 | EIF2B5,EIF4G1 | c.3326-33A= (n.3326-33A=) c.3260-33A= (n.3260-33A=) c.2673-33A= (n.2673-33A=) c.2732-33A= (n.2732-33A=) c.3329-33A= (n.3329-33A=) c.2834-33A= (n.2834-33A=) c.3347-33A= (n.3347-33A=) c.3065-33A= (n.3065-33A=) c.3209-33A= (n.3209-33A=) c.3206-33A= (n.3206-33A=) c.3068-33A= (n.3068-33A=) c.2741-33A= (n.2741-33A=) c.2738-33A= (n.2738-33A=) c.2837-33A= (n.2837-33A=) c.*2765-33A= (n.*2765-33A=) c.2106+182141A= (n.2106+182141A=) c.487-33A= n.546-33A= | |
3 | g.184326848A>G | CA548796069 | EIF2B5,EIF4G1 | c.3326-33A>G (n.3326-33A>G) c.3260-33A>G (n.3260-33A>G) c.2673-33A>G (n.2673-33A>G) c.2732-33A>G (n.2732-33A>G) c.3329-33A>G (n.3329-33A>G) c.2834-33A>G (n.2834-33A>G) c.3347-33A>G (n.3347-33A>G) c.3065-33A>G (n.3065-33A>G) c.3209-33A>G (n.3209-33A>G) c.3206-33A>G (n.3206-33A>G) c.3068-33A>G (n.3068-33A>G) c.2741-33A>G (n.2741-33A>G) c.2738-33A>G (n.2738-33A>G) c.2837-33A>G (n.2837-33A>G) c.*2765-33A>G (n.*2765-33A>G) c.2106+182141A>G (n.2106+182141A>G) c.487-33A>G n.546-33A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184326851G= | CA1425957681 | EIF2B5,EIF4G1 | c.3326-30G= (n.3326-30G=) c.3260-30G= (n.3260-30G=) c.2673-30G= (n.2673-30G=) c.2732-30G= (n.2732-30G=) c.3329-30G= (n.3329-30G=) c.2834-30G= (n.2834-30G=) c.3347-30G= (n.3347-30G=) c.3065-30G= (n.3065-30G=) c.3209-30G= (n.3209-30G=) c.3206-30G= (n.3206-30G=) c.3068-30G= (n.3068-30G=) c.2741-30G= (n.2741-30G=) c.2738-30G= (n.2738-30G=) c.2837-30G= (n.2837-30G=) c.*2765-30G= (n.*2765-30G=) c.2106+182144G= (n.2106+182144G=) c.487-30G= n.546-30G= | |
3 | g.184326851G>T | CA2732762 | EIF2B5,EIF4G1 | c.3326-30G>T (n.3326-30G>T) c.3260-30G>T (n.3260-30G>T) c.2673-30G>T (n.2673-30G>T) c.2732-30G>T (n.2732-30G>T) c.3329-30G>T (n.3329-30G>T) c.2834-30G>T (n.2834-30G>T) c.3347-30G>T (n.3347-30G>T) c.3065-30G>T (n.3065-30G>T) c.3209-30G>T (n.3209-30G>T) c.3206-30G>T (n.3206-30G>T) c.3068-30G>T (n.3068-30G>T) c.2741-30G>T (n.2741-30G>T) c.2738-30G>T (n.2738-30G>T) c.2837-30G>T (n.2837-30G>T) c.*2765-30G>T (n.*2765-30G>T) c.2106+182144G>T (n.2106+182144G>T) c.487-30G>T n.546-30G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184326856del | CA2759716601 | EIF2B5,EIF4G1 | c.3326-25del (n.3326-25del) c.3260-25del (n.3260-25del) c.2673-25del (n.2673-25del) c.2732-25del (n.2732-25del) c.3329-25del (n.3329-25del) c.2834-25del (n.2834-25del) c.3347-25del (n.3347-25del) c.3065-25del (n.3065-25del) c.3209-25del (n.3209-25del) c.3206-25del (n.3206-25del) c.3068-25del (n.3068-25del) c.2741-25del (n.2741-25del) c.2738-25del (n.2738-25del) c.2837-25del (n.2837-25del) c.*2765-25del (n.*2765-25del) c.2106+182149del (n.2106+182149del) c.487-25del n.546-25del | |
3 | g.184326854T>A | CA88867156 | EIF2B5,EIF4G1 | c.3326-27T>A (n.3326-27T>A) c.3260-27T>A (n.3260-27T>A) c.2673-27T>A (n.2673-27T>A) c.2732-27T>A (n.2732-27T>A) c.3329-27T>A (n.3329-27T>A) c.2834-27T>A (n.2834-27T>A) c.3347-27T>A (n.3347-27T>A) c.3065-27T>A (n.3065-27T>A) c.3209-27T>A (n.3209-27T>A) c.3206-27T>A (n.3206-27T>A) c.3068-27T>A (n.3068-27T>A) c.2741-27T>A (n.2741-27T>A) c.2738-27T>A (n.2738-27T>A) c.2837-27T>A (n.2837-27T>A) c.*2765-27T>A (n.*2765-27T>A) c.2106+182147T>A (n.2106+182147T>A) c.487-27T>A n.546-27T>A | dbSNP gnomAD v4 |
3 | g.184326854T= | CA1425957683 | EIF2B5,EIF4G1 | c.3326-27T= (n.3326-27T=) c.3260-27T= (n.3260-27T=) c.2673-27T= (n.2673-27T=) c.2732-27T= (n.2732-27T=) c.3329-27T= (n.3329-27T=) c.2834-27T= (n.2834-27T=) c.3347-27T= (n.3347-27T=) c.3065-27T= (n.3065-27T=) c.3209-27T= (n.3209-27T=) c.3206-27T= (n.3206-27T=) c.3068-27T= (n.3068-27T=) c.2741-27T= (n.2741-27T=) c.2738-27T= (n.2738-27T=) c.2837-27T= (n.2837-27T=) c.*2765-27T= (n.*2765-27T=) c.2106+182147T= (n.2106+182147T=) c.487-27T= n.546-27T= | |
3 | g.184326857A= | CA1425957685 | EIF2B5,EIF4G1 | c.3326-24A= (n.3326-24A=) c.3260-24A= (n.3260-24A=) c.2673-24A= (n.2673-24A=) c.2732-24A= (n.2732-24A=) c.3329-24A= (n.3329-24A=) c.2834-24A= (n.2834-24A=) c.3347-24A= (n.3347-24A=) c.3065-24A= (n.3065-24A=) c.3209-24A= (n.3209-24A=) c.3206-24A= (n.3206-24A=) c.3068-24A= (n.3068-24A=) c.2741-24A= (n.2741-24A=) c.2738-24A= (n.2738-24A=) c.2837-24A= (n.2837-24A=) c.*2765-24A= (n.*2765-24A=) c.2106+182150A= (n.2106+182150A=) c.487-24A= n.546-24A= | |
3 | g.184326857A>C | CA2668839373 | EIF2B5,EIF4G1 | c.3326-24A>C (n.3326-24A>C) c.3260-24A>C (n.3260-24A>C) c.2673-24A>C (n.2673-24A>C) c.2732-24A>C (n.2732-24A>C) c.3329-24A>C (n.3329-24A>C) c.2834-24A>C (n.2834-24A>C) c.3347-24A>C (n.3347-24A>C) c.3065-24A>C (n.3065-24A>C) c.3209-24A>C (n.3209-24A>C) c.3206-24A>C (n.3206-24A>C) c.3068-24A>C (n.3068-24A>C) c.2741-24A>C (n.2741-24A>C) c.2738-24A>C (n.2738-24A>C) c.2837-24A>C (n.2837-24A>C) c.*2765-24A>C (n.*2765-24A>C) c.2106+182150A>C (n.2106+182150A>C) c.487-24A>C n.546-24A>C | gnomAD v4 |
3 | g.184326857A>G | CA548796070 | EIF2B5,EIF4G1 | c.3326-24A>G (n.3326-24A>G) c.3260-24A>G (n.3260-24A>G) c.2673-24A>G (n.2673-24A>G) c.2732-24A>G (n.2732-24A>G) c.3329-24A>G (n.3329-24A>G) c.2834-24A>G (n.2834-24A>G) c.3347-24A>G (n.3347-24A>G) c.3065-24A>G (n.3065-24A>G) c.3209-24A>G (n.3209-24A>G) c.3206-24A>G (n.3206-24A>G) c.3068-24A>G (n.3068-24A>G) c.2741-24A>G (n.2741-24A>G) c.2738-24A>G (n.2738-24A>G) c.2837-24A>G (n.2837-24A>G) c.*2765-24A>G (n.*2765-24A>G) c.2106+182150A>G (n.2106+182150A>G) c.487-24A>G n.546-24A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184326857A>T | CA1425957687 | EIF2B5,EIF4G1 | c.3326-24A>T (n.3326-24A>T) c.3260-24A>T (n.3260-24A>T) c.2673-24A>T (n.2673-24A>T) c.2732-24A>T (n.2732-24A>T) c.3329-24A>T (n.3329-24A>T) c.2834-24A>T (n.2834-24A>T) c.3347-24A>T (n.3347-24A>T) c.3065-24A>T (n.3065-24A>T) c.3209-24A>T (n.3209-24A>T) c.3206-24A>T (n.3206-24A>T) c.3068-24A>T (n.3068-24A>T) c.2741-24A>T (n.2741-24A>T) c.2738-24A>T (n.2738-24A>T) c.2837-24A>T (n.2837-24A>T) c.*2765-24A>T (n.*2765-24A>T) c.2106+182150A>T (n.2106+182150A>T) c.487-24A>T n.546-24A>T | dbSNP |
3 | g.184326858A= | CA1425957688 | EIF2B5,EIF4G1 | c.3326-23A= (n.3326-23A=) c.3260-23A= (n.3260-23A=) c.2673-23A= (n.2673-23A=) c.2732-23A= (n.2732-23A=) c.3329-23A= (n.3329-23A=) c.2834-23A= (n.2834-23A=) c.3347-23A= (n.3347-23A=) c.3065-23A= (n.3065-23A=) c.3209-23A= (n.3209-23A=) c.3206-23A= (n.3206-23A=) c.3068-23A= (n.3068-23A=) c.2741-23A= (n.2741-23A=) c.2738-23A= (n.2738-23A=) c.2837-23A= (n.2837-23A=) c.*2765-23A= (n.*2765-23A=) c.2106+182151A= (n.2106+182151A=) c.487-23A= n.546-23A= | |
3 | g.184326858A>G | CA903714116 | EIF2B5,EIF4G1 | c.3326-23A>G (n.3326-23A>G) c.3260-23A>G (n.3260-23A>G) c.2673-23A>G (n.2673-23A>G) c.2732-23A>G (n.2732-23A>G) c.3329-23A>G (n.3329-23A>G) c.2834-23A>G (n.2834-23A>G) c.3347-23A>G (n.3347-23A>G) c.3065-23A>G (n.3065-23A>G) c.3209-23A>G (n.3209-23A>G) c.3206-23A>G (n.3206-23A>G) c.3068-23A>G (n.3068-23A>G) c.2741-23A>G (n.2741-23A>G) c.2738-23A>G (n.2738-23A>G) c.2837-23A>G (n.2837-23A>G) c.*2765-23A>G (n.*2765-23A>G) c.2106+182151A>G (n.2106+182151A>G) c.487-23A>G n.546-23A>G | dbSNP gnomAD v4 |
3 | g.184326859T= | CA1425957690 | EIF2B5,EIF4G1 | c.3326-22T= (n.3326-22T=) c.3260-22T= (n.3260-22T=) c.2673-22T= (n.2673-22T=) c.2732-22T= (n.2732-22T=) c.3329-22T= (n.3329-22T=) c.2834-22T= (n.2834-22T=) c.3347-22T= (n.3347-22T=) c.3065-22T= (n.3065-22T=) c.3209-22T= (n.3209-22T=) c.3206-22T= (n.3206-22T=) c.3068-22T= (n.3068-22T=) c.2741-22T= (n.2741-22T=) c.2738-22T= (n.2738-22T=) c.2837-22T= (n.2837-22T=) c.*2765-22T= (n.*2765-22T=) c.2106+182152T= (n.2106+182152T=) c.487-22T= n.546-22T= | |
3 | g.184326860A>G | CA2577978149 | EIF2B5,EIF4G1 | c.3326-21A>G (n.3326-21A>G) c.3260-21A>G (n.3260-21A>G) c.2673-21A>G (n.2673-21A>G) c.2732-21A>G (n.2732-21A>G) c.3329-21A>G (n.3329-21A>G) c.2834-21A>G (n.2834-21A>G) c.3347-21A>G (n.3347-21A>G) c.3065-21A>G (n.3065-21A>G) c.3209-21A>G (n.3209-21A>G) c.3206-21A>G (n.3206-21A>G) c.3068-21A>G (n.3068-21A>G) c.2741-21A>G (n.2741-21A>G) c.2738-21A>G (n.2738-21A>G) c.2837-21A>G (n.2837-21A>G) c.*2765-21A>G (n.*2765-21A>G) c.2106+182153A>G (n.2106+182153A>G) c.487-21A>G n.546-21A>G | gnomAD v4 |
3 | g.184326860dup | CA548796071 | EIF2B5,EIF4G1 | c.3326-21dup (n.3326-21dup) c.3260-21dup (n.3260-21dup) c.2673-21dup (n.2673-21dup) c.2732-21dup (n.2732-21dup) c.3329-21dup (n.3329-21dup) c.2834-21dup (n.2834-21dup) c.3347-21dup (n.3347-21dup) c.3065-21dup (n.3065-21dup) c.3209-21dup (n.3209-21dup) c.3206-21dup (n.3206-21dup) c.3068-21dup (n.3068-21dup) c.2741-21dup (n.2741-21dup) c.2738-21dup (n.2738-21dup) c.2837-21dup (n.2837-21dup) c.*2765-21dup (n.*2765-21dup) c.2106+182153dup (n.2106+182153dup) c.487-21dup n.546-21dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326861C>A | CA2668839387 | EIF2B5,EIF4G1 | c.3326-20C>A (n.3326-20C>A) c.3260-20C>A (n.3260-20C>A) c.2673-20C>A (n.2673-20C>A) c.2732-20C>A (n.2732-20C>A) c.3329-20C>A (n.3329-20C>A) c.2834-20C>A (n.2834-20C>A) c.3347-20C>A (n.3347-20C>A) c.3065-20C>A (n.3065-20C>A) c.3209-20C>A (n.3209-20C>A) c.3206-20C>A (n.3206-20C>A) c.3068-20C>A (n.3068-20C>A) c.2741-20C>A (n.2741-20C>A) c.2738-20C>A (n.2738-20C>A) c.2837-20C>A (n.2837-20C>A) c.*2765-20C>A (n.*2765-20C>A) c.2106+182154C>A (n.2106+182154C>A) c.487-20C>A n.546-20C>A | gnomAD v4 |
3 | g.184326861C= | CA1425957696 | EIF2B5,EIF4G1 | c.3326-20C= (n.3326-20C=) c.3260-20C= (n.3260-20C=) c.2673-20C= (n.2673-20C=) c.2732-20C= (n.2732-20C=) c.3329-20C= (n.3329-20C=) c.2834-20C= (n.2834-20C=) c.3347-20C= (n.3347-20C=) c.3065-20C= (n.3065-20C=) c.3209-20C= (n.3209-20C=) c.3206-20C= (n.3206-20C=) c.3068-20C= (n.3068-20C=) c.2741-20C= (n.2741-20C=) c.2738-20C= (n.2738-20C=) c.2837-20C= (n.2837-20C=) c.*2765-20C= (n.*2765-20C=) c.2106+182154C= (n.2106+182154C=) c.487-20C= n.546-20C= | |
3 | g.184326861C>G | CA88867158 | EIF2B5,EIF4G1 | c.3326-20C>G (n.3326-20C>G) c.3260-20C>G (n.3260-20C>G) c.2673-20C>G (n.2673-20C>G) c.2732-20C>G (n.2732-20C>G) c.3329-20C>G (n.3329-20C>G) c.2834-20C>G (n.2834-20C>G) c.3347-20C>G (n.3347-20C>G) c.3065-20C>G (n.3065-20C>G) c.3209-20C>G (n.3209-20C>G) c.3206-20C>G (n.3206-20C>G) c.3068-20C>G (n.3068-20C>G) c.2741-20C>G (n.2741-20C>G) c.2738-20C>G (n.2738-20C>G) c.2837-20C>G (n.2837-20C>G) c.*2765-20C>G (n.*2765-20C>G) c.2106+182154C>G (n.2106+182154C>G) c.487-20C>G n.546-20C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326861C>T | CA2732763 | EIF2B5,EIF4G1 | c.3326-20C>T (n.3326-20C>T) c.3260-20C>T (n.3260-20C>T) c.2673-20C>T (n.2673-20C>T) c.2732-20C>T (n.2732-20C>T) c.3329-20C>T (n.3329-20C>T) c.2834-20C>T (n.2834-20C>T) c.3347-20C>T (n.3347-20C>T) c.3065-20C>T (n.3065-20C>T) c.3209-20C>T (n.3209-20C>T) c.3206-20C>T (n.3206-20C>T) c.3068-20C>T (n.3068-20C>T) c.2741-20C>T (n.2741-20C>T) c.2738-20C>T (n.2738-20C>T) c.2837-20C>T (n.2837-20C>T) c.*2765-20C>T (n.*2765-20C>T) c.2106+182154C>T (n.2106+182154C>T) c.487-20C>T n.546-20C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326861_184326862delinsCG | CA1425957700 | EIF2B5,EIF4G1 | c.3326-20_3326-19delinsCG (n.3326-20_3326-19delinsCG) c.3260-20_3260-19delinsCG (n.3260-20_3260-19delinsCG) c.2673-20_2673-19delinsCG (n.2673-20_2673-19delinsCG) c.2732-20_2732-19delinsCG (n.2732-20_2732-19delinsCG) c.3329-20_3329-19delinsCG (n.3329-20_3329-19delinsCG) c.2834-20_2834-19delinsCG (n.2834-20_2834-19delinsCG) c.3347-20_3347-19delinsCG (n.3347-20_3347-19delinsCG) c.3065-20_3065-19delinsCG (n.3065-20_3065-19delinsCG) c.3209-20_3209-19delinsCG (n.3209-20_3209-19delinsCG) c.3206-20_3206-19delinsCG (n.3206-20_3206-19delinsCG) c.3068-20_3068-19delinsCG (n.3068-20_3068-19delinsCG) c.2741-20_2741-19delinsCG (n.2741-20_2741-19delinsCG) c.2738-20_2738-19delinsCG (n.2738-20_2738-19delinsCG) c.2837-20_2837-19delinsCG (n.2837-20_2837-19delinsCG) c.*2765-20_*2765-19delinsCG (n.*2765-20_*2765-19delinsCG) c.2106+182154_2106+182155delinsCG (n.2106+182154_2106+182155delinsCG) c.487-20_487-19delinsCG n.546-20_546-19delinsCG | |
3 | g.184326862G>A | CA2732765 | EIF2B5,EIF4G1 | c.3326-19G>A (n.3326-19G>A) c.3260-19G>A (n.3260-19G>A) c.2673-19G>A (n.2673-19G>A) c.2732-19G>A (n.2732-19G>A) c.3329-19G>A (n.3329-19G>A) c.2834-19G>A (n.2834-19G>A) c.3347-19G>A (n.3347-19G>A) c.3065-19G>A (n.3065-19G>A) c.3209-19G>A (n.3209-19G>A) c.3206-19G>A (n.3206-19G>A) c.3068-19G>A (n.3068-19G>A) c.2741-19G>A (n.2741-19G>A) c.2738-19G>A (n.2738-19G>A) c.2837-19G>A (n.2837-19G>A) c.*2765-19G>A (n.*2765-19G>A) c.2106+182155G>A (n.2106+182155G>A) c.487-19G>A n.546-19G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326862G>C | CA2732764 | EIF2B5,EIF4G1 | c.3326-19G>C (n.3326-19G>C) c.3260-19G>C (n.3260-19G>C) c.2673-19G>C (n.2673-19G>C) c.2732-19G>C (n.2732-19G>C) c.3329-19G>C (n.3329-19G>C) c.2834-19G>C (n.2834-19G>C) c.3347-19G>C (n.3347-19G>C) c.3065-19G>C (n.3065-19G>C) c.3209-19G>C (n.3209-19G>C) c.3206-19G>C (n.3206-19G>C) c.3068-19G>C (n.3068-19G>C) c.2741-19G>C (n.2741-19G>C) c.2738-19G>C (n.2738-19G>C) c.2837-19G>C (n.2837-19G>C) c.*2765-19G>C (n.*2765-19G>C) c.2106+182155G>C (n.2106+182155G>C) c.487-19G>C n.546-19G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326862G= | CA1425957704 | EIF2B5,EIF4G1 | c.3326-19G= (n.3326-19G=) c.3260-19G= (n.3260-19G=) c.2673-19G= (n.2673-19G=) c.2732-19G= (n.2732-19G=) c.3329-19G= (n.3329-19G=) c.2834-19G= (n.2834-19G=) c.3347-19G= (n.3347-19G=) c.3065-19G= (n.3065-19G=) c.3209-19G= (n.3209-19G=) c.3206-19G= (n.3206-19G=) c.3068-19G= (n.3068-19G=) c.2741-19G= (n.2741-19G=) c.2738-19G= (n.2738-19G=) c.2837-19G= (n.2837-19G=) c.*2765-19G= (n.*2765-19G=) c.2106+182155G= (n.2106+182155G=) c.487-19G= n.546-19G= | |
3 | g.184326863del | CA903714121 | EIF2B5,EIF4G1 | c.3326-18del (n.3326-18del) c.3260-18del (n.3260-18del) c.2673-18del (n.2673-18del) c.2732-18del (n.2732-18del) c.3329-18del (n.3329-18del) c.2834-18del (n.2834-18del) c.3347-18del (n.3347-18del) c.3065-18del (n.3065-18del) c.3209-18del (n.3209-18del) c.3206-18del (n.3206-18del) c.3068-18del (n.3068-18del) c.2741-18del (n.2741-18del) c.2738-18del (n.2738-18del) c.2837-18del (n.2837-18del) c.*2765-18del (n.*2765-18del) c.2106+182156del (n.2106+182156del) c.487-18del n.546-18del | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184326863G>C | CA88867182 | EIF2B5,EIF4G1 | c.3326-18G>C (n.3326-18G>C) c.3260-18G>C (n.3260-18G>C) c.2673-18G>C (n.2673-18G>C) c.2732-18G>C (n.2732-18G>C) c.3329-18G>C (n.3329-18G>C) c.2834-18G>C (n.2834-18G>C) c.3347-18G>C (n.3347-18G>C) c.3065-18G>C (n.3065-18G>C) c.3209-18G>C (n.3209-18G>C) c.3206-18G>C (n.3206-18G>C) c.3068-18G>C (n.3068-18G>C) c.2741-18G>C (n.2741-18G>C) c.2738-18G>C (n.2738-18G>C) c.2837-18G>C (n.2837-18G>C) c.*2765-18G>C (n.*2765-18G>C) c.2106+182156G>C (n.2106+182156G>C) c.487-18G>C n.546-18G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326863G= | CA1425957706 | EIF2B5,EIF4G1 | c.3326-18G= (n.3326-18G=) c.3260-18G= (n.3260-18G=) c.2673-18G= (n.2673-18G=) c.2732-18G= (n.2732-18G=) c.3329-18G= (n.3329-18G=) c.2834-18G= (n.2834-18G=) c.3347-18G= (n.3347-18G=) c.3065-18G= (n.3065-18G=) c.3209-18G= (n.3209-18G=) c.3206-18G= (n.3206-18G=) c.3068-18G= (n.3068-18G=) c.2741-18G= (n.2741-18G=) c.2738-18G= (n.2738-18G=) c.2837-18G= (n.2837-18G=) c.*2765-18G= (n.*2765-18G=) c.2106+182156G= (n.2106+182156G=) c.487-18G= n.546-18G= | |
3 | g.184326865T>C | CA1057223529 | EIF2B5,EIF4G1 | c.3326-16T>C (n.3326-16T>C) c.3260-16T>C (n.3260-16T>C) c.2673-16T>C (n.2673-16T>C) c.2732-16T>C (n.2732-16T>C) c.3329-16T>C (n.3329-16T>C) c.2834-16T>C (n.2834-16T>C) c.3347-16T>C (n.3347-16T>C) c.3065-16T>C (n.3065-16T>C) c.3209-16T>C (n.3209-16T>C) c.3206-16T>C (n.3206-16T>C) c.3068-16T>C (n.3068-16T>C) c.2741-16T>C (n.2741-16T>C) c.2738-16T>C (n.2738-16T>C) c.2837-16T>C (n.2837-16T>C) c.*2765-16T>C (n.*2765-16T>C) c.2106+182158T>C (n.2106+182158T>C) c.487-16T>C n.546-16T>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184326865T= | CA1425957707 | EIF2B5,EIF4G1 | c.3326-16T= (n.3326-16T=) c.3260-16T= (n.3260-16T=) c.2673-16T= (n.2673-16T=) c.2732-16T= (n.2732-16T=) c.3329-16T= (n.3329-16T=) c.2834-16T= (n.2834-16T=) c.3347-16T= (n.3347-16T=) c.3065-16T= (n.3065-16T=) c.3209-16T= (n.3209-16T=) c.3206-16T= (n.3206-16T=) c.3068-16T= (n.3068-16T=) c.2741-16T= (n.2741-16T=) c.2738-16T= (n.2738-16T=) c.2837-16T= (n.2837-16T=) c.*2765-16T= (n.*2765-16T=) c.2106+182158T= (n.2106+182158T=) c.487-16T= n.546-16T= | |
3 | g.184326867T>G | CA2668839391 | EIF2B5,EIF4G1 | c.3326-14T>G (n.3326-14T>G) c.3260-14T>G (n.3260-14T>G) c.2673-14T>G (n.2673-14T>G) c.2732-14T>G (n.2732-14T>G) c.3329-14T>G (n.3329-14T>G) c.2834-14T>G (n.2834-14T>G) c.3347-14T>G (n.3347-14T>G) c.3065-14T>G (n.3065-14T>G) c.3209-14T>G (n.3209-14T>G) c.3206-14T>G (n.3206-14T>G) c.3068-14T>G (n.3068-14T>G) c.2741-14T>G (n.2741-14T>G) c.2738-14T>G (n.2738-14T>G) c.2837-14T>G (n.2837-14T>G) c.*2765-14T>G (n.*2765-14T>G) c.2106+182160T>G (n.2106+182160T>G) c.487-14T>G n.546-14T>G | gnomAD v4 |
3 | g.184326869C= | CA1425957711 | EIF2B5,EIF4G1 | c.3326-12C= (n.3326-12C=) c.3260-12C= (n.3260-12C=) c.2673-12C= (n.2673-12C=) c.2732-12C= (n.2732-12C=) c.3329-12C= (n.3329-12C=) c.2834-12C= (n.2834-12C=) c.3347-12C= (n.3347-12C=) c.3065-12C= (n.3065-12C=) c.3209-12C= (n.3209-12C=) c.3206-12C= (n.3206-12C=) c.3068-12C= (n.3068-12C=) c.2741-12C= (n.2741-12C=) c.2738-12C= (n.2738-12C=) c.2837-12C= (n.2837-12C=) c.*2765-12C= (n.*2765-12C=) c.2106+182162C= (n.2106+182162C=) c.487-12C= n.546-12C= | |
3 | g.184326869C>T | CA548796072 | EIF2B5,EIF4G1 | c.3326-12C>T (n.3326-12C>T) c.3260-12C>T (n.3260-12C>T) c.2673-12C>T (n.2673-12C>T) c.2732-12C>T (n.2732-12C>T) c.3329-12C>T (n.3329-12C>T) c.2834-12C>T (n.2834-12C>T) c.3347-12C>T (n.3347-12C>T) c.3065-12C>T (n.3065-12C>T) c.3209-12C>T (n.3209-12C>T) c.3206-12C>T (n.3206-12C>T) c.3068-12C>T (n.3068-12C>T) c.2741-12C>T (n.2741-12C>T) c.2738-12C>T (n.2738-12C>T) c.2837-12C>T (n.2837-12C>T) c.*2765-12C>T (n.*2765-12C>T) c.2106+182162C>T (n.2106+182162C>T) c.487-12C>T n.546-12C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326874T>A | CA1057223537 | EIF2B5,EIF4G1 | c.3326-7T>A (n.3326-7T>A) c.3260-7T>A (n.3260-7T>A) c.2673-7T>A (n.2673-7T>A) c.2732-7T>A (n.2732-7T>A) c.3329-7T>A (n.3329-7T>A) c.2834-7T>A (n.2834-7T>A) c.3347-7T>A (n.3347-7T>A) c.3065-7T>A (n.3065-7T>A) c.3209-7T>A (n.3209-7T>A) c.3206-7T>A (n.3206-7T>A) c.3068-7T>A (n.3068-7T>A) c.2741-7T>A (n.2741-7T>A) c.2738-7T>A (n.2738-7T>A) c.2837-7T>A (n.2837-7T>A) c.*2765-7T>A (n.*2765-7T>A) c.2106+182167T>A (n.2106+182167T>A) c.487-7T>A n.546-7T>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184326874T>C | CA1425957713 | EIF2B5,EIF4G1 | c.3326-7T>C (n.3326-7T>C) c.3260-7T>C (n.3260-7T>C) c.2673-7T>C (n.2673-7T>C) c.2732-7T>C (n.2732-7T>C) c.3329-7T>C (n.3329-7T>C) c.2834-7T>C (n.2834-7T>C) c.3347-7T>C (n.3347-7T>C) c.3065-7T>C (n.3065-7T>C) c.3209-7T>C (n.3209-7T>C) c.3206-7T>C (n.3206-7T>C) c.3068-7T>C (n.3068-7T>C) c.2741-7T>C (n.2741-7T>C) c.2738-7T>C (n.2738-7T>C) c.2837-7T>C (n.2837-7T>C) c.*2765-7T>C (n.*2765-7T>C) c.2106+182167T>C (n.2106+182167T>C) c.487-7T>C n.546-7T>C | dbSNP |
3 | g.184326874T= | CA1425957715 | EIF2B5,EIF4G1 | c.3326-7T= (n.3326-7T=) c.3260-7T= (n.3260-7T=) c.2673-7T= (n.2673-7T=) c.2732-7T= (n.2732-7T=) c.3329-7T= (n.3329-7T=) c.2834-7T= (n.2834-7T=) c.3347-7T= (n.3347-7T=) c.3065-7T= (n.3065-7T=) c.3209-7T= (n.3209-7T=) c.3206-7T= (n.3206-7T=) c.3068-7T= (n.3068-7T=) c.2741-7T= (n.2741-7T=) c.2738-7T= (n.2738-7T=) c.2837-7T= (n.2837-7T=) c.*2765-7T= (n.*2765-7T=) c.2106+182167T= (n.2106+182167T=) c.487-7T= n.546-7T= | |
3 | g.184326875C>A | CA2668839393 | EIF2B5,EIF4G1 | c.3326-6C>A (n.3326-6C>A) c.3260-6C>A (n.3260-6C>A) c.2673-6C>A (n.2673-6C>A) c.2732-6C>A (n.2732-6C>A) c.3329-6C>A (n.3329-6C>A) c.2834-6C>A (n.2834-6C>A) c.3347-6C>A (n.3347-6C>A) c.3065-6C>A (n.3065-6C>A) c.3209-6C>A (n.3209-6C>A) c.3206-6C>A (n.3206-6C>A) c.3068-6C>A (n.3068-6C>A) c.2741-6C>A (n.2741-6C>A) c.2738-6C>A (n.2738-6C>A) c.2837-6C>A (n.2837-6C>A) c.*2765-6C>A (n.*2765-6C>A) c.2106+182168C>A (n.2106+182168C>A) c.487-6C>A n.546-6C>A | gnomAD v4 |
3 | g.184326875C= | CA1425957717 | EIF2B5,EIF4G1 | c.3326-6C= (n.3326-6C=) c.3260-6C= (n.3260-6C=) c.2673-6C= (n.2673-6C=) c.2732-6C= (n.2732-6C=) c.3329-6C= (n.3329-6C=) c.2834-6C= (n.2834-6C=) c.3347-6C= (n.3347-6C=) c.3065-6C= (n.3065-6C=) c.3209-6C= (n.3209-6C=) c.3206-6C= (n.3206-6C=) c.3068-6C= (n.3068-6C=) c.2741-6C= (n.2741-6C=) c.2738-6C= (n.2738-6C=) c.2837-6C= (n.2837-6C=) c.*2765-6C= (n.*2765-6C=) c.2106+182168C= (n.2106+182168C=) c.487-6C= n.546-6C= | |
3 | g.184326875C>G | CA1425957719 | EIF2B5,EIF4G1 | c.3326-6C>G (n.3326-6C>G) c.3260-6C>G (n.3260-6C>G) c.2673-6C>G (n.2673-6C>G) c.2732-6C>G (n.2732-6C>G) c.3329-6C>G (n.3329-6C>G) c.2834-6C>G (n.2834-6C>G) c.3347-6C>G (n.3347-6C>G) c.3065-6C>G (n.3065-6C>G) c.3209-6C>G (n.3209-6C>G) c.3206-6C>G (n.3206-6C>G) c.3068-6C>G (n.3068-6C>G) c.2741-6C>G (n.2741-6C>G) c.2738-6C>G (n.2738-6C>G) c.2837-6C>G (n.2837-6C>G) c.*2765-6C>G (n.*2765-6C>G) c.2106+182168C>G (n.2106+182168C>G) c.487-6C>G n.546-6C>G | dbSNP |
3 | g.184326876C>T | CA2577978150 | EIF2B5,EIF4G1 | c.3326-5C>T (n.3326-5C>T) c.3260-5C>T (n.3260-5C>T) c.2673-5C>T (n.2673-5C>T) c.2732-5C>T (n.2732-5C>T) c.3329-5C>T (n.3329-5C>T) c.2834-5C>T (n.2834-5C>T) c.3347-5C>T (n.3347-5C>T) c.3065-5C>T (n.3065-5C>T) c.3209-5C>T (n.3209-5C>T) c.3206-5C>T (n.3206-5C>T) c.3068-5C>T (n.3068-5C>T) c.2741-5C>T (n.2741-5C>T) c.2738-5C>T (n.2738-5C>T) c.2837-5C>T (n.2837-5C>T) c.*2765-5C>T (n.*2765-5C>T) c.2106+182169C>T (n.2106+182169C>T) c.487-5C>T n.546-5C>T | |
3 | g.184326877C>A | CA2668839422 | EIF2B5,EIF4G1 | c.3326-4C>A (n.3326-4C>A) c.3260-4C>A (n.3260-4C>A) c.2673-4C>A (n.2673-4C>A) c.2732-4C>A (n.2732-4C>A) c.3329-4C>A (n.3329-4C>A) c.2834-4C>A (n.2834-4C>A) c.3347-4C>A (n.3347-4C>A) c.3065-4C>A (n.3065-4C>A) c.3209-4C>A (n.3209-4C>A) c.3206-4C>A (n.3206-4C>A) c.3068-4C>A (n.3068-4C>A) c.2741-4C>A (n.2741-4C>A) c.2738-4C>A (n.2738-4C>A) c.2837-4C>A (n.2837-4C>A) c.*2765-4C>A (n.*2765-4C>A) c.2106+182170C>A (n.2106+182170C>A) c.487-4C>A n.546-4C>A | gnomAD v4 |
3 | g.184326878C= | CA1425957721 | EIF2B5,EIF4G1 | c.3326-3C= (n.3326-3C=) c.3260-3C= (n.3260-3C=) c.2673-3C= (n.2673-3C=) c.2732-3C= (n.2732-3C=) c.3329-3C= (n.3329-3C=) c.2834-3C= (n.2834-3C=) c.3347-3C= (n.3347-3C=) c.3065-3C= (n.3065-3C=) c.3209-3C= (n.3209-3C=) c.3206-3C= (n.3206-3C=) c.3068-3C= (n.3068-3C=) c.2741-3C= (n.2741-3C=) c.2738-3C= (n.2738-3C=) c.2837-3C= (n.2837-3C=) c.*2765-3C= (n.*2765-3C=) c.2106+182171C= (n.2106+182171C=) c.487-3C= n.546-3C= | |
3 | g.184326878C>T | CA1057223547 | EIF2B5,EIF4G1 | c.3326-3C>T (n.3326-3C>T) c.3260-3C>T (n.3260-3C>T) c.2673-3C>T (n.2673-3C>T) c.2732-3C>T (n.2732-3C>T) c.3329-3C>T (n.3329-3C>T) c.2834-3C>T (n.2834-3C>T) c.3347-3C>T (n.3347-3C>T) c.3065-3C>T (n.3065-3C>T) c.3209-3C>T (n.3209-3C>T) c.3206-3C>T (n.3206-3C>T) c.3068-3C>T (n.3068-3C>T) c.2741-3C>T (n.2741-3C>T) c.2738-3C>T (n.2738-3C>T) c.2837-3C>T (n.2837-3C>T) c.*2765-3C>T (n.*2765-3C>T) c.2106+182171C>T (n.2106+182171C>T) c.487-3C>T n.546-3C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184326879A= | CA1425957723 | EIF2B5,EIF4G1 | c.3326-2A= (n.3326-2A=) c.3260-2A= (n.3260-2A=) c.2673-2A= (n.2673-2A=) c.2732-2A= (n.2732-2A=) c.3329-2A= (n.3329-2A=) c.2834-2A= (n.2834-2A=) c.3347-2A= (n.3347-2A=) c.3065-2A= (n.3065-2A=) c.3209-2A= (n.3209-2A=) c.3206-2A= (n.3206-2A=) c.3068-2A= (n.3068-2A=) c.2741-2A= (n.2741-2A=) c.2738-2A= (n.2738-2A=) c.2837-2A= (n.2837-2A=) c.*2765-2A= (n.*2765-2A=) c.2106+182172A= (n.2106+182172A=) c.487-2A= n.546-2A= | |
3 | g.184326879A>C | CA355412950 | EIF2B5,EIF4G1 | c.3326-2A>C (n.3326-2A>C) c.3260-2A>C (n.3260-2A>C) c.2673-2A>C (n.2673-2A>C) c.2732-2A>C (n.2732-2A>C) c.3329-2A>C (n.3329-2A>C) c.2834-2A>C (n.2834-2A>C) c.3347-2A>C (n.3347-2A>C) c.3065-2A>C (n.3065-2A>C) c.3209-2A>C (n.3209-2A>C) c.3206-2A>C (n.3206-2A>C) c.3068-2A>C (n.3068-2A>C) c.2741-2A>C (n.2741-2A>C) c.2738-2A>C (n.2738-2A>C) c.2837-2A>C (n.2837-2A>C) c.*2765-2A>C (n.*2765-2A>C) c.2106+182172A>C (n.2106+182172A>C) c.487-2A>C n.546-2A>C | |
3 | g.184326879A>G | CA88867184 | EIF2B5,EIF4G1 | c.3326-2A>G (n.3326-2A>G) c.3260-2A>G (n.3260-2A>G) c.2673-2A>G (n.2673-2A>G) c.2732-2A>G (n.2732-2A>G) c.3329-2A>G (n.3329-2A>G) c.2834-2A>G (n.2834-2A>G) c.3347-2A>G (n.3347-2A>G) c.3065-2A>G (n.3065-2A>G) c.3209-2A>G (n.3209-2A>G) c.3206-2A>G (n.3206-2A>G) c.3068-2A>G (n.3068-2A>G) c.2741-2A>G (n.2741-2A>G) c.2738-2A>G (n.2738-2A>G) c.2837-2A>G (n.2837-2A>G) c.*2765-2A>G (n.*2765-2A>G) c.2106+182172A>G (n.2106+182172A>G) c.487-2A>G n.546-2A>G | dbSNP |
3 | g.184326879A>T | CA355412947 | EIF2B5,EIF4G1 | c.3326-2A>T (n.3326-2A>T) c.3260-2A>T (n.3260-2A>T) c.2673-2A>T (n.2673-2A>T) c.2732-2A>T (n.2732-2A>T) c.3329-2A>T (n.3329-2A>T) c.2834-2A>T (n.2834-2A>T) c.3347-2A>T (n.3347-2A>T) c.3065-2A>T (n.3065-2A>T) c.3209-2A>T (n.3209-2A>T) c.3206-2A>T (n.3206-2A>T) c.3068-2A>T (n.3068-2A>T) c.2741-2A>T (n.2741-2A>T) c.2738-2A>T (n.2738-2A>T) c.2837-2A>T (n.2837-2A>T) c.*2765-2A>T (n.*2765-2A>T) c.2106+182172A>T (n.2106+182172A>T) c.487-2A>T n.546-2A>T | |
3 | g.184326880G>A | CA355412954 | EIF2B5,EIF4G1 | c.3326-1G>A (n.3326-1G>A) c.3260-1G>A (n.3260-1G>A) c.2673-1G>A (n.2673-1G>A) c.2732-1G>A (n.2732-1G>A) c.3329-1G>A (n.3329-1G>A) c.2834-1G>A (n.2834-1G>A) c.3347-1G>A (n.3347-1G>A) c.3065-1G>A (n.3065-1G>A) c.3209-1G>A (n.3209-1G>A) c.3206-1G>A (n.3206-1G>A) c.3068-1G>A (n.3068-1G>A) c.2741-1G>A (n.2741-1G>A) c.2738-1G>A (n.2738-1G>A) c.2837-1G>A (n.2837-1G>A) c.*2765-1G>A (n.*2765-1G>A) c.2106+182173G>A (n.2106+182173G>A) c.487-1G>A n.546-1G>A | |
3 | g.184326880G>C | CA355412956 | EIF2B5,EIF4G1 | c.3326-1G>C (n.3326-1G>C) c.3260-1G>C (n.3260-1G>C) c.2673-1G>C (n.2673-1G>C) c.2732-1G>C (n.2732-1G>C) c.3329-1G>C (n.3329-1G>C) c.2834-1G>C (n.2834-1G>C) c.3347-1G>C (n.3347-1G>C) c.3065-1G>C (n.3065-1G>C) c.3209-1G>C (n.3209-1G>C) c.3206-1G>C (n.3206-1G>C) c.3068-1G>C (n.3068-1G>C) c.2741-1G>C (n.2741-1G>C) c.2738-1G>C (n.2738-1G>C) c.2837-1G>C (n.2837-1G>C) c.*2765-1G>C (n.*2765-1G>C) c.2106+182173G>C (n.2106+182173G>C) c.487-1G>C n.546-1G>C | |
3 | g.184326880G>T | CA355412957 | EIF2B5,EIF4G1 | c.3326-1G>T (n.3326-1G>T) c.3260-1G>T (n.3260-1G>T) c.2673-1G>T (n.2673-1G>T) c.2732-1G>T (n.2732-1G>T) c.3329-1G>T (n.3329-1G>T) c.2834-1G>T (n.2834-1G>T) c.3347-1G>T (n.3347-1G>T) c.3065-1G>T (n.3065-1G>T) c.3209-1G>T (n.3209-1G>T) c.3206-1G>T (n.3206-1G>T) c.3068-1G>T (n.3068-1G>T) c.2741-1G>T (n.2741-1G>T) c.2738-1G>T (n.2738-1G>T) c.2837-1G>T (n.2837-1G>T) c.*2765-1G>T (n.*2765-1G>T) c.2106+182173G>T (n.2106+182173G>T) c.487-1G>T n.546-1G>T | |
3 | g.184326881C>A | CA355412958 | EIF2B5,EIF4G1 | c.3326C>A (p.Ala1109Glu) c.3260C>A (p.Ala1087Glu) c.2673C>A (n.2673C>A) c.2732C>A (p.Ala911Glu) c.3329C>A (p.Ala1110Glu) c.2834C>A (p.Ala945Glu) c.3347C>A (p.Ala1116Glu) c.3065C>A (p.Ala1022Glu) c.3209C>A (p.Ala1070Glu) c.3206C>A (p.Ala1069Glu) c.3068C>A (p.Ala1023Glu) c.2741C>A (p.Ala914Glu) c.2738C>A (p.Ala913Glu) c.2837C>A (p.Ala946Glu) c.*2765C>A (n.*2765C>A) c.2106+182174C>A (n.2106+182174C>A) c.487C>A n.546C>A | |
3 | g.184326881C>G | CA355412959 | EIF2B5,EIF4G1 | c.3326C>G (p.Ala1109Gly) c.3260C>G (p.Ala1087Gly) c.2673C>G (n.2673C>G) c.2732C>G (p.Ala911Gly) c.3329C>G (p.Ala1110Gly) c.2834C>G (p.Ala945Gly) c.3347C>G (p.Ala1116Gly) c.3065C>G (p.Ala1022Gly) c.3209C>G (p.Ala1070Gly) c.3206C>G (p.Ala1069Gly) c.3068C>G (p.Ala1023Gly) c.2741C>G (p.Ala914Gly) c.2738C>G (p.Ala913Gly) c.2837C>G (p.Ala946Gly) c.*2765C>G (n.*2765C>G) c.2106+182174C>G (n.2106+182174C>G) c.487C>G n.546C>G | |
3 | g.184326881C>T | CA355412962 | EIF2B5,EIF4G1 | c.3326C>T (p.Ala1109Val) c.3260C>T (p.Ala1087Val) c.2673C>T (n.2673C>T) c.2732C>T (p.Ala911Val) c.3329C>T (p.Ala1110Val) c.2834C>T (p.Ala945Val) c.3347C>T (p.Ala1116Val) c.3065C>T (p.Ala1022Val) c.3209C>T (p.Ala1070Val) c.3206C>T (p.Ala1069Val) c.3068C>T (p.Ala1023Val) c.2741C>T (p.Ala914Val) c.2738C>T (p.Ala913Val) c.2837C>T (p.Ala946Val) c.*2765C>T (n.*2765C>T) c.2106+182174C>T (n.2106+182174C>T) c.487C>T n.546C>T | |
3 | g.184326882A= | CA1425957729 | EIF2B5,EIF4G1 | c.3327A= (p.Ala1109=) c.3261A= (p.Ala1087=) c.2674A= (n.2674A=) c.2733A= (p.Ala911=) c.3330A= (p.Ala1110=) c.2835A= (p.Ala945=) c.3348A= (p.Ala1116=) c.3066A= (p.Ala1022=) c.3210A= (p.Ala1070=) c.3207A= (p.Ala1069=) c.3069A= (p.Ala1023=) c.2742A= (p.Ala914=) c.2739A= (p.Ala913=) c.2838A= (p.Ala946=) c.*2766A= (n.*2766A=) c.2106+182175A= (n.2106+182175A=) c.488A= n.547A= | |
3 | g.184326882A>C | CA437162070 | EIF2B5,EIF4G1 | c.3327A>C (p.Ala1109=) c.3261A>C (p.Ala1087=) c.2674A>C (n.2674A>C) c.2733A>C (p.Ala911=) c.3330A>C (p.Ala1110=) c.2835A>C (p.Ala945=) c.3348A>C (p.Ala1116=) c.3066A>C (p.Ala1022=) c.3210A>C (p.Ala1070=) c.3207A>C (p.Ala1069=) c.3069A>C (p.Ala1023=) c.2742A>C (p.Ala914=) c.2739A>C (p.Ala913=) c.2838A>C (p.Ala946=) c.*2766A>C (n.*2766A>C) c.2106+182175A>C (n.2106+182175A>C) c.488A>C n.547A>C | |
3 | g.184326882A>G | CA2732766 | EIF2B5,EIF4G1 | c.3327A>G (p.Ala1109=) c.3261A>G (p.Ala1087=) c.2674A>G (n.2674A>G) c.2733A>G (p.Ala911=) c.3330A>G (p.Ala1110=) c.2835A>G (p.Ala945=) c.3348A>G (p.Ala1116=) c.3066A>G (p.Ala1022=) c.3210A>G (p.Ala1070=) c.3207A>G (p.Ala1069=) c.3069A>G (p.Ala1023=) c.2742A>G (p.Ala914=) c.2739A>G (p.Ala913=) c.2838A>G (p.Ala946=) c.*2766A>G (n.*2766A>G) c.2106+182175A>G (n.2106+182175A>G) c.488A>G n.547A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184326882A>T | CA437162071 | EIF2B5,EIF4G1 | c.3327A>T (p.Ala1109=) c.3261A>T (p.Ala1087=) c.2674A>T (n.2674A>T) c.2733A>T (p.Ala911=) c.3330A>T (p.Ala1110=) c.2835A>T (p.Ala945=) c.3348A>T (p.Ala1116=) c.3066A>T (p.Ala1022=) c.3210A>T (p.Ala1070=) c.3207A>T (p.Ala1069=) c.3069A>T (p.Ala1023=) c.2742A>T (p.Ala914=) c.2739A>T (p.Ala913=) c.2838A>T (p.Ala946=) c.*2766A>T (n.*2766A>T) c.2106+182175A>T (n.2106+182175A>T) c.488A>T n.547A>T | |
3 | g.184326883T>A | CA355412970 | EIF2B5,EIF4G1 | c.3328T>A (p.Ser1110Thr) c.3262T>A (p.Ser1088Thr) c.2675T>A (n.2675T>A) c.2734T>A (p.Ser912Thr) c.3331T>A (p.Ser1111Thr) c.2836T>A (p.Ser946Thr) c.3349T>A (p.Ser1117Thr) c.3067T>A (p.Ser1023Thr) c.3211T>A (p.Ser1071Thr) c.3208T>A (p.Ser1070Thr) c.3070T>A (p.Ser1024Thr) c.2743T>A (p.Ser915Thr) c.2740T>A (p.Ser914Thr) c.2839T>A (p.Ser947Thr) c.*2767T>A (n.*2767T>A) c.2106+182176T>A (n.2106+182176T>A) c.489T>A n.548T>A | |
3 | g.184326883T>C | CA355412972 | EIF2B5,EIF4G1 | c.3328T>C (p.Ser1110Pro) c.3262T>C (p.Ser1088Pro) c.2675T>C (n.2675T>C) c.2734T>C (p.Ser912Pro) c.3331T>C (p.Ser1111Pro) c.2836T>C (p.Ser946Pro) c.3349T>C (p.Ser1117Pro) c.3067T>C (p.Ser1023Pro) c.3211T>C (p.Ser1071Pro) c.3208T>C (p.Ser1070Pro) c.3070T>C (p.Ser1024Pro) c.2743T>C (p.Ser915Pro) c.2740T>C (p.Ser914Pro) c.2839T>C (p.Ser947Pro) c.*2767T>C (n.*2767T>C) c.2106+182176T>C (n.2106+182176T>C) c.489T>C n.548T>C | |
3 | g.184326883T>G | CA355412975 | EIF2B5,EIF4G1 | c.3328T>G (p.Ser1110Ala) c.3262T>G (p.Ser1088Ala) c.2675T>G (n.2675T>G) c.2734T>G (p.Ser912Ala) c.3331T>G (p.Ser1111Ala) c.2836T>G (p.Ser946Ala) c.3349T>G (p.Ser1117Ala) c.3067T>G (p.Ser1023Ala) c.3211T>G (p.Ser1071Ala) c.3208T>G (p.Ser1070Ala) c.3070T>G (p.Ser1024Ala) c.2743T>G (p.Ser915Ala) c.2740T>G (p.Ser914Ala) c.2839T>G (p.Ser947Ala) c.*2767T>G (n.*2767T>G) c.2106+182176T>G (n.2106+182176T>G) c.489T>G n.548T>G | |
3 | g.184326884C>A | CA355412979 | EIF2B5,EIF4G1 | c.3329C>A (p.Ser1110Ter) c.3263C>A (p.Ser1088Ter) c.2676C>A (n.2676C>A) c.2735C>A (p.Ser912Ter) c.3332C>A (p.Ser1111Ter) c.2837C>A (p.Ser946Ter) c.3350C>A (p.Ser1117Ter) c.3068C>A (p.Ser1023Ter) c.3212C>A (p.Ser1071Ter) c.3209C>A (p.Ser1070Ter) c.3071C>A (p.Ser1024Ter) c.2744C>A (p.Ser915Ter) c.2741C>A (p.Ser914Ter) c.2840C>A (p.Ser947Ter) c.*2768C>A (n.*2768C>A) c.2106+182177C>A (n.2106+182177C>A) c.490C>A n.549C>A | |
3 | g.184326884C>G | CA355412982 | EIF2B5,EIF4G1 | c.3329C>G (p.Ser1110Ter) c.3263C>G (p.Ser1088Ter) c.2676C>G (n.2676C>G) c.2735C>G (p.Ser912Ter) c.3332C>G (p.Ser1111Ter) c.2837C>G (p.Ser946Ter) c.3350C>G (p.Ser1117Ter) c.3068C>G (p.Ser1023Ter) c.3212C>G (p.Ser1071Ter) c.3209C>G (p.Ser1070Ter) c.3071C>G (p.Ser1024Ter) c.2744C>G (p.Ser915Ter) c.2741C>G (p.Ser914Ter) c.2840C>G (p.Ser947Ter) c.*2768C>G (n.*2768C>G) c.2106+182177C>G (n.2106+182177C>G) c.490C>G n.549C>G | |
3 | g.184326884C>T | CA355412983 | EIF2B5,EIF4G1 | c.3329C>T (p.Ser1110Leu) c.3263C>T (p.Ser1088Leu) c.2676C>T (n.2676C>T) c.2735C>T (p.Ser912Leu) c.3332C>T (p.Ser1111Leu) c.2837C>T (p.Ser946Leu) c.3350C>T (p.Ser1117Leu) c.3068C>T (p.Ser1023Leu) c.3212C>T (p.Ser1071Leu) c.3209C>T (p.Ser1070Leu) c.3071C>T (p.Ser1024Leu) c.2744C>T (p.Ser915Leu) c.2741C>T (p.Ser914Leu) c.2840C>T (p.Ser947Leu) c.*2768C>T (n.*2768C>T) c.2106+182177C>T (n.2106+182177C>T) c.490C>T n.549C>T | gnomAD v4 |
3 | g.184326885A>C | CA437162072 | EIF2B5,EIF4G1 | c.3330A>C (p.Ser1110=) c.3264A>C (p.Ser1088=) c.2677A>C (n.2677A>C) c.2736A>C (p.Ser912=) c.3333A>C (p.Ser1111=) c.2838A>C (p.Ser946=) c.3351A>C (p.Ser1117=) c.3069A>C (p.Ser1023=) c.3213A>C (p.Ser1071=) c.3210A>C (p.Ser1070=) c.3072A>C (p.Ser1024=) c.2745A>C (p.Ser915=) c.2742A>C (p.Ser914=) c.2841A>C (p.Ser947=) c.*2769A>C (n.*2769A>C) c.2106+182178A>C (n.2106+182178A>C) c.491A>C n.550A>C | |
3 | g.184326885A>G | CA437162073 | EIF2B5,EIF4G1 | c.3330A>G (p.Ser1110=) c.3264A>G (p.Ser1088=) c.2677A>G (n.2677A>G) c.2736A>G (p.Ser912=) c.3333A>G (p.Ser1111=) c.2838A>G (p.Ser946=) c.3351A>G (p.Ser1117=) c.3069A>G (p.Ser1023=) c.3213A>G (p.Ser1071=) c.3210A>G (p.Ser1070=) c.3072A>G (p.Ser1024=) c.2745A>G (p.Ser915=) c.2742A>G (p.Ser914=) c.2841A>G (p.Ser947=) c.*2769A>G (n.*2769A>G) c.2106+182178A>G (n.2106+182178A>G) c.491A>G n.550A>G | gnomAD v4 |
3 | g.184326885A>T | CA437162074 | EIF2B5,EIF4G1 | c.3330A>T (p.Ser1110=) c.3264A>T (p.Ser1088=) c.2677A>T (n.2677A>T) c.2736A>T (p.Ser912=) c.3333A>T (p.Ser1111=) c.2838A>T (p.Ser946=) c.3351A>T (p.Ser1117=) c.3069A>T (p.Ser1023=) c.3213A>T (p.Ser1071=) c.3210A>T (p.Ser1070=) c.3072A>T (p.Ser1024=) c.2745A>T (p.Ser915=) c.2742A>T (p.Ser914=) c.2841A>T (p.Ser947=) c.*2769A>T (n.*2769A>T) c.2106+182178A>T (n.2106+182178A>T) c.491A>T n.550A>T | |
3 | g.184326886G>A | CA355412984 | EIF2B5,EIF4G1 | c.3331G>A (p.Glu1111Lys) c.3265G>A (p.Glu1089Lys) c.2678G>A (n.2678G>A) c.2737G>A (p.Glu913Lys) c.3334G>A (p.Glu1112Lys) c.2839G>A (p.Glu947Lys) c.3352G>A (p.Glu1118Lys) c.3070G>A (p.Glu1024Lys) c.3214G>A (p.Glu1072Lys) c.3211G>A (p.Glu1071Lys) c.3073G>A (p.Glu1025Lys) c.2746G>A (p.Glu916Lys) c.2743G>A (p.Glu915Lys) c.2842G>A (p.Glu948Lys) c.*2770G>A (n.*2770G>A) c.2106+182179G>A (n.2106+182179G>A) c.492G>A n.551G>A | |
3 | g.184326886G>C | CA2732767 | EIF2B5,EIF4G1 | c.3331G>C (p.Glu1111Gln) c.3265G>C (p.Glu1089Gln) c.2678G>C (n.2678G>C) c.2737G>C (p.Glu913Gln) c.3334G>C (p.Glu1112Gln) c.2839G>C (p.Glu947Gln) c.3352G>C (p.Glu1118Gln) c.3070G>C (p.Glu1024Gln) c.3214G>C (p.Glu1072Gln) c.3211G>C (p.Glu1071Gln) c.3073G>C (p.Glu1025Gln) c.2746G>C (p.Glu916Gln) c.2743G>C (p.Glu915Gln) c.2842G>C (p.Glu948Gln) c.*2770G>C (n.*2770G>C) c.2106+182179G>C (n.2106+182179G>C) c.492G>C n.551G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184326886G= | CA1425957733 | EIF2B5,EIF4G1 | c.3331G= (p.Glu1111=) c.3265G= (p.Glu1089=) c.2678G= (n.2678G=) c.2737G= (p.Glu913=) c.3334G= (p.Glu1112=) c.2839G= (p.Glu947=) c.3352G= (p.Glu1118=) c.3070G= (p.Glu1024=) c.3214G= (p.Glu1072=) c.3211G= (p.Glu1071=) c.3073G= (p.Glu1025=) c.2746G= (p.Glu916=) c.2743G= (p.Glu915=) c.2842G= (p.Glu948=) c.*2770G= (n.*2770G=) c.2106+182179G= (n.2106+182179G=) c.492G= n.551G= | |
3 | g.184326886G>T | CA355412985 | EIF2B5,EIF4G1 | c.3331G>T (p.Glu1111Ter) c.3265G>T (p.Glu1089Ter) c.2678G>T (n.2678G>T) c.2737G>T (p.Glu913Ter) c.3334G>T (p.Glu1112Ter) c.2839G>T (p.Glu947Ter) c.3352G>T (p.Glu1118Ter) c.3070G>T (p.Glu1024Ter) c.3214G>T (p.Glu1072Ter) c.3211G>T (p.Glu1071Ter) c.3073G>T (p.Glu1025Ter) c.2746G>T (p.Glu916Ter) c.2743G>T (p.Glu915Ter) c.2842G>T (p.Glu948Ter) c.*2770G>T (n.*2770G>T) c.2106+182179G>T (n.2106+182179G>T) c.492G>T n.551G>T | |
3 | g.184326887A>C | CA355412987 | EIF2B5,EIF4G1 | c.3332A>C (p.Glu1111Ala) c.3266A>C (p.Glu1089Ala) c.2679A>C (n.2679A>C) c.2738A>C (p.Glu913Ala) c.3335A>C (p.Glu1112Ala) c.2840A>C (p.Glu947Ala) c.3353A>C (p.Glu1118Ala) c.3071A>C (p.Glu1024Ala) c.3215A>C (p.Glu1072Ala) c.3212A>C (p.Glu1071Ala) c.3074A>C (p.Glu1025Ala) c.2747A>C (p.Glu916Ala) c.2744A>C (p.Glu915Ala) c.2843A>C (p.Glu948Ala) c.*2771A>C (n.*2771A>C) c.2106+182180A>C (n.2106+182180A>C) c.493A>C n.552A>C | |
3 | g.184326887A>G | CA355412989 | EIF2B5,EIF4G1 | c.3332A>G (p.Glu1111Gly) c.3266A>G (p.Glu1089Gly) c.2679A>G (n.2679A>G) c.2738A>G (p.Glu913Gly) c.3335A>G (p.Glu1112Gly) c.2840A>G (p.Glu947Gly) c.3353A>G (p.Glu1118Gly) c.3071A>G (p.Glu1024Gly) c.3215A>G (p.Glu1072Gly) c.3212A>G (p.Glu1071Gly) c.3074A>G (p.Glu1025Gly) c.2747A>G (p.Glu916Gly) c.2744A>G (p.Glu915Gly) c.2843A>G (p.Glu948Gly) c.*2771A>G (n.*2771A>G) c.2106+182180A>G (n.2106+182180A>G) c.493A>G n.552A>G | |
3 | g.184326887A>T | CA355412992 | EIF2B5,EIF4G1 | c.3332A>T (p.Glu1111Val) c.3266A>T (p.Glu1089Val) c.2679A>T (n.2679A>T) c.2738A>T (p.Glu913Val) c.3335A>T (p.Glu1112Val) c.2840A>T (p.Glu947Val) c.3353A>T (p.Glu1118Val) c.3071A>T (p.Glu1024Val) c.3215A>T (p.Glu1072Val) c.3212A>T (p.Glu1071Val) c.3074A>T (p.Glu1025Val) c.2747A>T (p.Glu916Val) c.2744A>T (p.Glu915Val) c.2843A>T (p.Glu948Val) c.*2771A>T (n.*2771A>T) c.2106+182180A>T (n.2106+182180A>T) c.493A>T n.552A>T | gnomAD v4 |
3 | g.184326888A>C | CA355412995 | EIF2B5,EIF4G1 | c.3333A>C (p.Glu1111Asp) c.3267A>C (p.Glu1089Asp) c.2680A>C (n.2680A>C) c.2739A>C (p.Glu913Asp) c.3336A>C (p.Glu1112Asp) c.2841A>C (p.Glu947Asp) c.3354A>C (p.Glu1118Asp) c.3072A>C (p.Glu1024Asp) c.3216A>C (p.Glu1072Asp) c.3213A>C (p.Glu1071Asp) c.3075A>C (p.Glu1025Asp) c.2748A>C (p.Glu916Asp) c.2745A>C (p.Glu915Asp) c.2844A>C (p.Glu948Asp) c.*2772A>C (n.*2772A>C) c.2106+182181A>C (n.2106+182181A>C) c.494A>C n.553A>C | |
3 | g.184326888A>G | CA437162075 | EIF2B5,EIF4G1 | c.3333A>G (p.Glu1111=) c.3267A>G (p.Glu1089=) c.2680A>G (n.2680A>G) c.2739A>G (p.Glu913=) c.3336A>G (p.Glu1112=) c.2841A>G (p.Glu947=) c.3354A>G (p.Glu1118=) c.3072A>G (p.Glu1024=) c.3216A>G (p.Glu1072=) c.3213A>G (p.Glu1071=) c.3075A>G (p.Glu1025=) c.2748A>G (p.Glu916=) c.2745A>G (p.Glu915=) c.2844A>G (p.Glu948=) c.*2772A>G (n.*2772A>G) c.2106+182181A>G (n.2106+182181A>G) c.494A>G n.553A>G | |
3 | g.184326888A>T | CA355412998 | EIF2B5,EIF4G1 | c.3333A>T (p.Glu1111Asp) c.3267A>T (p.Glu1089Asp) c.2680A>T (n.2680A>T) c.2739A>T (p.Glu913Asp) c.3336A>T (p.Glu1112Asp) c.2841A>T (p.Glu947Asp) c.3354A>T (p.Glu1118Asp) c.3072A>T (p.Glu1024Asp) c.3216A>T (p.Glu1072Asp) c.3213A>T (p.Glu1071Asp) c.3075A>T (p.Glu1025Asp) c.2748A>T (p.Glu916Asp) c.2745A>T (p.Glu915Asp) c.2844A>T (p.Glu948Asp) c.*2772A>T (n.*2772A>T) c.2106+182181A>T (n.2106+182181A>T) c.494A>T n.553A>T | |
3 | g.184326889G>A | CA355413002 | EIF2B5,EIF4G1 | c.3334G>A (p.Ala1112Thr) c.3268G>A (p.Ala1090Thr) c.2681G>A (n.2681G>A) c.2740G>A (p.Ala914Thr) c.3337G>A (p.Ala1113Thr) c.2842G>A (p.Ala948Thr) c.3355G>A (p.Ala1119Thr) c.3073G>A (p.Ala1025Thr) c.3217G>A (p.Ala1073Thr) c.3214G>A (p.Ala1072Thr) c.3076G>A (p.Ala1026Thr) c.2749G>A (p.Ala917Thr) c.2746G>A (p.Ala916Thr) c.2845G>A (p.Ala949Thr) c.*2773G>A (n.*2773G>A) c.2106+182182G>A (n.2106+182182G>A) c.495G>A n.554G>A | gnomAD v4 |
3 | g.184326889G>C | CA355413004 | EIF2B5,EIF4G1 | c.3334G>C (p.Ala1112Pro) c.3268G>C (p.Ala1090Pro) c.2681G>C (n.2681G>C) c.2740G>C (p.Ala914Pro) c.3337G>C (p.Ala1113Pro) c.2842G>C (p.Ala948Pro) c.3355G>C (p.Ala1119Pro) c.3073G>C (p.Ala1025Pro) c.3217G>C (p.Ala1073Pro) c.3214G>C (p.Ala1072Pro) c.3076G>C (p.Ala1026Pro) c.2749G>C (p.Ala917Pro) c.2746G>C (p.Ala916Pro) c.2845G>C (p.Ala949Pro) c.*2773G>C (n.*2773G>C) c.2106+182182G>C (n.2106+182182G>C) c.495G>C n.554G>C | |
3 | g.184326889G>T | CA355413006 | EIF2B5,EIF4G1 | c.3334G>T (p.Ala1112Ser) c.3268G>T (p.Ala1090Ser) c.2681G>T (n.2681G>T) c.2740G>T (p.Ala914Ser) c.3337G>T (p.Ala1113Ser) c.2842G>T (p.Ala948Ser) c.3355G>T (p.Ala1119Ser) c.3073G>T (p.Ala1025Ser) c.3217G>T (p.Ala1073Ser) c.3214G>T (p.Ala1072Ser) c.3076G>T (p.Ala1026Ser) c.2749G>T (p.Ala917Ser) c.2746G>T (p.Ala916Ser) c.2845G>T (p.Ala949Ser) c.*2773G>T (n.*2773G>T) c.2106+182182G>T (n.2106+182182G>T) c.495G>T n.554G>T | |
3 | g.184326890C>A | CA355413009 | EIF2B5,EIF4G1 | c.3335C>A (p.Ala1112Asp) c.3269C>A (p.Ala1090Asp) c.2682C>A (n.2682C>A) c.2741C>A (p.Ala914Asp) c.3338C>A (p.Ala1113Asp) c.2843C>A (p.Ala948Asp) c.3356C>A (p.Ala1119Asp) c.3074C>A (p.Ala1025Asp) c.3218C>A (p.Ala1073Asp) c.3215C>A (p.Ala1072Asp) c.3077C>A (p.Ala1026Asp) c.2750C>A (p.Ala917Asp) c.2747C>A (p.Ala916Asp) c.2846C>A (p.Ala949Asp) c.*2774C>A (n.*2774C>A) c.2106+182183C>A (n.2106+182183C>A) c.496C>A n.555C>A | |
3 | g.184326890C= | CA1425957735 | EIF2B5,EIF4G1 | c.3335C= (p.Ala1112=) c.3269C= (p.Ala1090=) c.2682C= (n.2682C=) c.2741C= (p.Ala914=) c.3338C= (p.Ala1113=) c.2843C= (p.Ala948=) c.3356C= (p.Ala1119=) c.3074C= (p.Ala1025=) c.3218C= (p.Ala1073=) c.3215C= (p.Ala1072=) c.3077C= (p.Ala1026=) c.2750C= (p.Ala917=) c.2747C= (p.Ala916=) c.2846C= (p.Ala949=) c.*2774C= (n.*2774C=) c.2106+182183C= (n.2106+182183C=) c.496C= n.555C= | |
3 | g.184326890C>G | CA355413010 | EIF2B5,EIF4G1 | c.3335C>G (p.Ala1112Gly) c.3269C>G (p.Ala1090Gly) c.2682C>G (n.2682C>G) c.2741C>G (p.Ala914Gly) c.3338C>G (p.Ala1113Gly) c.2843C>G (p.Ala948Gly) c.3356C>G (p.Ala1119Gly) c.3074C>G (p.Ala1025Gly) c.3218C>G (p.Ala1073Gly) c.3215C>G (p.Ala1072Gly) c.3077C>G (p.Ala1026Gly) c.2750C>G (p.Ala917Gly) c.2747C>G (p.Ala916Gly) c.2846C>G (p.Ala949Gly) c.*2774C>G (n.*2774C>G) c.2106+182183C>G (n.2106+182183C>G) c.496C>G n.555C>G | |
3 | g.184326890C>T | CA2732768 | EIF2B5,EIF4G1 | c.3335C>T (p.Ala1112Val) c.3269C>T (p.Ala1090Val) c.2682C>T (n.2682C>T) c.2741C>T (p.Ala914Val) c.3338C>T (p.Ala1113Val) c.2843C>T (p.Ala948Val) c.3356C>T (p.Ala1119Val) c.3074C>T (p.Ala1025Val) c.3218C>T (p.Ala1073Val) c.3215C>T (p.Ala1072Val) c.3077C>T (p.Ala1026Val) c.2750C>T (p.Ala917Val) c.2747C>T (p.Ala916Val) c.2846C>T (p.Ala949Val) c.*2774C>T (n.*2774C>T) c.2106+182183C>T (n.2106+182183C>T) c.496C>T n.555C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184326891T>A | CA437162076 | EIF2B5,EIF4G1 | c.3336T>A (p.Ala1112=) c.3270T>A (p.Ala1090=) c.2683T>A (n.2683T>A) c.2742T>A (p.Ala914=) c.3339T>A (p.Ala1113=) c.2844T>A (p.Ala948=) c.3357T>A (p.Ala1119=) c.3075T>A (p.Ala1025=) c.3219T>A (p.Ala1073=) c.3216T>A (p.Ala1072=) c.3078T>A (p.Ala1026=) c.2751T>A (p.Ala917=) c.2748T>A (p.Ala916=) c.2847T>A (p.Ala949=) c.*2775T>A (n.*2775T>A) c.2106+182184T>A (n.2106+182184T>A) c.497T>A n.556T>A | |
3 | g.184326891T>C | CA437162077 | EIF2B5,EIF4G1 | c.3336T>C (p.Ala1112=) c.3270T>C (p.Ala1090=) c.2683T>C (n.2683T>C) c.2742T>C (p.Ala914=) c.3339T>C (p.Ala1113=) c.2844T>C (p.Ala948=) c.3357T>C (p.Ala1119=) c.3075T>C (p.Ala1025=) c.3219T>C (p.Ala1073=) c.3216T>C (p.Ala1072=) c.3078T>C (p.Ala1026=) c.2751T>C (p.Ala917=) c.2748T>C (p.Ala916=) c.2847T>C (p.Ala949=) c.*2775T>C (n.*2775T>C) c.2106+182184T>C (n.2106+182184T>C) c.497T>C n.556T>C | gnomAD v4 |
3 | g.184326891T>G | CA437162078 | EIF2B5,EIF4G1 | c.3336T>G (p.Ala1112=) c.3270T>G (p.Ala1090=) c.2683T>G (n.2683T>G) c.2742T>G (p.Ala914=) c.3339T>G (p.Ala1113=) c.2844T>G (p.Ala948=) c.3357T>G (p.Ala1119=) c.3075T>G (p.Ala1025=) c.3219T>G (p.Ala1073=) c.3216T>G (p.Ala1072=) c.3078T>G (p.Ala1026=) c.2751T>G (p.Ala917=) c.2748T>G (p.Ala916=) c.2847T>G (p.Ala949=) c.*2775T>G (n.*2775T>G) c.2106+182184T>G (n.2106+182184T>G) c.497T>G n.556T>G | dbSNP |
3 | g.184326891T= | CA1425957738 | EIF2B5,EIF4G1 | c.3336T= (p.Ala1112=) c.3270T= (p.Ala1090=) c.2683T= (n.2683T=) c.2742T= (p.Ala914=) c.3339T= (p.Ala1113=) c.2844T= (p.Ala948=) c.3357T= (p.Ala1119=) c.3075T= (p.Ala1025=) c.3219T= (p.Ala1073=) c.3216T= (p.Ala1072=) c.3078T= (p.Ala1026=) c.2751T= (p.Ala917=) c.2748T= (p.Ala916=) c.2847T= (p.Ala949=) c.*2775T= (n.*2775T=) c.2106+182184T= (n.2106+182184T=) c.497T= n.556T= | |
3 | g.184326892G>A | CA355413019 | EIF2B5,EIF4G1 | c.3337G>A (p.Ala1113Thr) c.3271G>A (p.Ala1091Thr) c.2684G>A (n.2684G>A) c.2743G>A (p.Ala915Thr) c.3340G>A (p.Ala1114Thr) c.2845G>A (p.Ala949Thr) c.3358G>A (p.Ala1120Thr) c.3076G>A (p.Ala1026Thr) c.3220G>A (p.Ala1074Thr) c.3217G>A (p.Ala1073Thr) c.3079G>A (p.Ala1027Thr) c.2752G>A (p.Ala918Thr) c.2749G>A (p.Ala917Thr) c.2848G>A (p.Ala950Thr) c.*2776G>A (n.*2776G>A) c.2106+182185G>A (n.2106+182185G>A) c.498G>A n.557G>A | |
3 | g.184326892G>C | CA2732769 | EIF2B5,EIF4G1 | c.3337G>C (p.Ala1113Pro) c.3271G>C (p.Ala1091Pro) c.2684G>C (n.2684G>C) c.2743G>C (p.Ala915Pro) c.3340G>C (p.Ala1114Pro) c.2845G>C (p.Ala949Pro) c.3358G>C (p.Ala1120Pro) c.3076G>C (p.Ala1026Pro) c.3220G>C (p.Ala1074Pro) c.3217G>C (p.Ala1073Pro) c.3079G>C (p.Ala1027Pro) c.2752G>C (p.Ala918Pro) c.2749G>C (p.Ala917Pro) c.2848G>C (p.Ala950Pro) c.*2776G>C (n.*2776G>C) c.2106+182185G>C (n.2106+182185G>C) c.498G>C n.557G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184326892G= | CA1425957741 | EIF2B5,EIF4G1 | c.3337G= (p.Ala1113=) c.3271G= (p.Ala1091=) c.2684G= (n.2684G=) c.2743G= (p.Ala915=) c.3340G= (p.Ala1114=) c.2845G= (p.Ala949=) c.3358G= (p.Ala1120=) c.3076G= (p.Ala1026=) c.3220G= (p.Ala1074=) c.3217G= (p.Ala1073=) c.3079G= (p.Ala1027=) c.2752G= (p.Ala918=) c.2749G= (p.Ala917=) c.2848G= (p.Ala950=) c.*2776G= (n.*2776G=) c.2106+182185G= (n.2106+182185G=) c.498G= n.557G= | |
3 | g.184326892G>T | CA355413016 | EIF2B5,EIF4G1 | c.3337G>T (p.Ala1113Ser) c.3271G>T (p.Ala1091Ser) c.2684G>T (n.2684G>T) c.2743G>T (p.Ala915Ser) c.3340G>T (p.Ala1114Ser) c.2845G>T (p.Ala949Ser) c.3358G>T (p.Ala1120Ser) c.3076G>T (p.Ala1026Ser) c.3220G>T (p.Ala1074Ser) c.3217G>T (p.Ala1073Ser) c.3079G>T (p.Ala1027Ser) c.2752G>T (p.Ala918Ser) c.2749G>T (p.Ala917Ser) c.2848G>T (p.Ala950Ser) c.*2776G>T (n.*2776G>T) c.2106+182185G>T (n.2106+182185G>T) c.498G>T n.557G>T | |
3 | g.184326893C>A | CA355413036 | EIF2B5,EIF4G1 | c.3338C>A (p.Ala1113Asp) c.3272C>A (p.Ala1091Asp) c.2685C>A (n.2685C>A) c.2744C>A (p.Ala915Asp) c.3341C>A (p.Ala1114Asp) c.2846C>A (p.Ala949Asp) c.3359C>A (p.Ala1120Asp) c.3077C>A (p.Ala1026Asp) c.3221C>A (p.Ala1074Asp) c.3218C>A (p.Ala1073Asp) c.3080C>A (p.Ala1027Asp) c.2753C>A (p.Ala918Asp) c.2750C>A (p.Ala917Asp) c.2849C>A (p.Ala950Asp) c.*2777C>A (n.*2777C>A) c.2106+182186C>A (n.2106+182186C>A) c.499C>A n.558C>A | |
3 | g.184326893C= | CA1425957743 | EIF2B5,EIF4G1 | c.3338C= (p.Ala1113=) c.3272C= (p.Ala1091=) c.2685C= (n.2685C=) c.2744C= (p.Ala915=) c.3341C= (p.Ala1114=) c.2846C= (p.Ala949=) c.3359C= (p.Ala1120=) c.3077C= (p.Ala1026=) c.3221C= (p.Ala1074=) c.3218C= (p.Ala1073=) c.3080C= (p.Ala1027=) c.2753C= (p.Ala918=) c.2750C= (p.Ala917=) c.2849C= (p.Ala950=) c.*2777C= (n.*2777C=) c.2106+182186C= (n.2106+182186C=) c.499C= n.558C= | |
3 | g.184326893C>G | CA355413029 | EIF2B5,EIF4G1 | c.3338C>G (p.Ala1113Gly) c.3272C>G (p.Ala1091Gly) c.2685C>G (n.2685C>G) c.2744C>G (p.Ala915Gly) c.3341C>G (p.Ala1114Gly) c.2846C>G (p.Ala949Gly) c.3359C>G (p.Ala1120Gly) c.3077C>G (p.Ala1026Gly) c.3221C>G (p.Ala1074Gly) c.3218C>G (p.Ala1073Gly) c.3080C>G (p.Ala1027Gly) c.2753C>G (p.Ala918Gly) c.2750C>G (p.Ala917Gly) c.2849C>G (p.Ala950Gly) c.*2777C>G (n.*2777C>G) c.2106+182186C>G (n.2106+182186C>G) c.499C>G n.558C>G | |
3 | g.184326893C>T | CA355413033 | EIF2B5,EIF4G1 | c.3338C>T (p.Ala1113Val) c.3272C>T (p.Ala1091Val) c.2685C>T (n.2685C>T) c.2744C>T (p.Ala915Val) c.3341C>T (p.Ala1114Val) c.2846C>T (p.Ala949Val) c.3359C>T (p.Ala1120Val) c.3077C>T (p.Ala1026Val) c.3221C>T (p.Ala1074Val) c.3218C>T (p.Ala1073Val) c.3080C>T (p.Ala1027Val) c.2753C>T (p.Ala918Val) c.2750C>T (p.Ala917Val) c.2849C>T (p.Ala950Val) c.*2777C>T (n.*2777C>T) c.2106+182186C>T (n.2106+182186C>T) c.499C>T n.558C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184326894T>A | CA437162079 | EIF2B5,EIF4G1 | c.3339T>A (p.Ala1113=) c.3273T>A (p.Ala1091=) c.2686T>A (n.2686T>A) c.2745T>A (p.Ala915=) c.3342T>A (p.Ala1114=) c.2847T>A (p.Ala949=) c.3360T>A (p.Ala1120=) c.3078T>A (p.Ala1026=) c.3222T>A (p.Ala1074=) c.3219T>A (p.Ala1073=) c.3081T>A (p.Ala1027=) c.2754T>A (p.Ala918=) c.2751T>A (p.Ala917=) c.2850T>A (p.Ala950=) c.*2778T>A (n.*2778T>A) c.2106+182187T>A (n.2106+182187T>A) c.500T>A n.559T>A | |
3 | g.184326894T>C | CA437162080 | EIF2B5,EIF4G1 | c.3339T>C (p.Ala1113=) c.3273T>C (p.Ala1091=) c.2686T>C (n.2686T>C) c.2745T>C (p.Ala915=) c.3342T>C (p.Ala1114=) c.2847T>C (p.Ala949=) c.3360T>C (p.Ala1120=) c.3078T>C (p.Ala1026=) c.3222T>C (p.Ala1074=) c.3219T>C (p.Ala1073=) c.3081T>C (p.Ala1027=) c.2754T>C (p.Ala918=) c.2751T>C (p.Ala917=) c.2850T>C (p.Ala950=) c.*2778T>C (n.*2778T>C) c.2106+182187T>C (n.2106+182187T>C) c.500T>C n.559T>C | dbSNP |
3 | g.184326894T>G | CA437162081 | EIF2B5,EIF4G1 | c.3339T>G (p.Ala1113=) c.3273T>G (p.Ala1091=) c.2686T>G (n.2686T>G) c.2745T>G (p.Ala915=) c.3342T>G (p.Ala1114=) c.2847T>G (p.Ala949=) c.3360T>G (p.Ala1120=) c.3078T>G (p.Ala1026=) c.3222T>G (p.Ala1074=) c.3219T>G (p.Ala1073=) c.3081T>G (p.Ala1027=) c.2754T>G (p.Ala918=) c.2751T>G (p.Ala917=) c.2850T>G (p.Ala950=) c.*2778T>G (n.*2778T>G) c.2106+182187T>G (n.2106+182187T>G) c.500T>G n.559T>G | |
3 | g.184326895C>A | CA88867220 | EIF2B5,EIF4G1 | c.3340C>A (p.Arg1114Ser) c.3274C>A (p.Arg1092Ser) c.2687C>A (n.2687C>A) c.2746C>A (p.Arg916Ser) c.3343C>A (p.Arg1115Ser) c.2848C>A (p.Arg950Ser) c.3361C>A (p.Arg1121Ser) c.3079C>A (p.Arg1027Ser) c.3223C>A (p.Arg1075Ser) c.3220C>A (p.Arg1074Ser) c.3082C>A (p.Arg1028Ser) c.2755C>A (p.Arg919Ser) c.2752C>A (p.Arg918Ser) c.2851C>A (p.Arg951Ser) c.*2779C>A (n.*2779C>A) c.2106+182188C>A (n.2106+182188C>A) c.501C>A n.560C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326895C= | CA1425957748 | EIF2B5,EIF4G1 | c.3340C= (p.Arg1114=) c.3274C= (p.Arg1092=) c.2687C= (n.2687C=) c.2746C= (p.Arg916=) c.3343C= (p.Arg1115=) c.2848C= (p.Arg950=) c.3361C= (p.Arg1121=) c.3079C= (p.Arg1027=) c.3223C= (p.Arg1075=) c.3220C= (p.Arg1074=) c.3082C= (p.Arg1028=) c.2755C= (p.Arg919=) c.2752C= (p.Arg918=) c.2851C= (p.Arg951=) c.*2779C= (n.*2779C=) c.2106+182188C= (n.2106+182188C=) c.501C= n.560C= | |
3 | g.184326895C>G | CA355413042 | EIF2B5,EIF4G1 | c.3340C>G (p.Arg1114Gly) c.3274C>G (p.Arg1092Gly) c.2687C>G (n.2687C>G) c.2746C>G (p.Arg916Gly) c.3343C>G (p.Arg1115Gly) c.2848C>G (p.Arg950Gly) c.3361C>G (p.Arg1121Gly) c.3079C>G (p.Arg1027Gly) c.3223C>G (p.Arg1075Gly) c.3220C>G (p.Arg1074Gly) c.3082C>G (p.Arg1028Gly) c.2755C>G (p.Arg919Gly) c.2752C>G (p.Arg918Gly) c.2851C>G (p.Arg951Gly) c.*2779C>G (n.*2779C>G) c.2106+182188C>G (n.2106+182188C>G) c.501C>G n.560C>G | |
3 | g.184326895C>T | CA2732770 | EIF2B5,EIF4G1 | c.3340C>T (p.Arg1114Cys) c.3274C>T (p.Arg1092Cys) c.2687C>T (n.2687C>T) c.2746C>T (p.Arg916Cys) c.3343C>T (p.Arg1115Cys) c.2848C>T (p.Arg950Cys) c.3361C>T (p.Arg1121Cys) c.3079C>T (p.Arg1027Cys) c.3223C>T (p.Arg1075Cys) c.3220C>T (p.Arg1074Cys) c.3082C>T (p.Arg1028Cys) c.2755C>T (p.Arg919Cys) c.2752C>T (p.Arg918Cys) c.2851C>T (p.Arg951Cys) c.*2779C>T (n.*2779C>T) c.2106+182188C>T (n.2106+182188C>T) c.501C>T n.560C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326896G>A | CA88867225 | EIF2B5,EIF4G1 | c.3341G>A (p.Arg1114His) c.3275G>A (p.Arg1092His) c.2688G>A (n.2688G>A) c.2747G>A (p.Arg916His) c.3344G>A (p.Arg1115His) c.2849G>A (p.Arg950His) c.3362G>A (p.Arg1121His) c.3080G>A (p.Arg1027His) c.3224G>A (p.Arg1075His) c.3221G>A (p.Arg1074His) c.3083G>A (p.Arg1028His) c.2756G>A (p.Arg919His) c.2753G>A (p.Arg918His) c.2852G>A (p.Arg951His) c.*2780G>A (n.*2780G>A) c.2106+182189G>A (n.2106+182189G>A) c.502G>A n.561G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326896G>C | CA355413051 | EIF2B5,EIF4G1 | c.3341G>C (p.Arg1114Pro) c.3275G>C (p.Arg1092Pro) c.2688G>C (n.2688G>C) c.2747G>C (p.Arg916Pro) c.3344G>C (p.Arg1115Pro) c.2849G>C (p.Arg950Pro) c.3362G>C (p.Arg1121Pro) c.3080G>C (p.Arg1027Pro) c.3224G>C (p.Arg1075Pro) c.3221G>C (p.Arg1074Pro) c.3083G>C (p.Arg1028Pro) c.2756G>C (p.Arg919Pro) c.2753G>C (p.Arg918Pro) c.2852G>C (p.Arg951Pro) c.*2780G>C (n.*2780G>C) c.2106+182189G>C (n.2106+182189G>C) c.502G>C n.561G>C | |
3 | g.184326896G= | CA1425957752 | EIF2B5,EIF4G1 | c.3341G= (p.Arg1114=) c.3275G= (p.Arg1092=) c.2688G= (n.2688G=) c.2747G= (p.Arg916=) c.3344G= (p.Arg1115=) c.2849G= (p.Arg950=) c.3362G= (p.Arg1121=) c.3080G= (p.Arg1027=) c.3224G= (p.Arg1075=) c.3221G= (p.Arg1074=) c.3083G= (p.Arg1028=) c.2756G= (p.Arg919=) c.2753G= (p.Arg918=) c.2852G= (p.Arg951=) c.*2780G= (n.*2780G=) c.2106+182189G= (n.2106+182189G=) c.502G= n.561G= | |
3 | g.184326896G>T | CA355413054 | EIF2B5,EIF4G1 | c.3341G>T (p.Arg1114Leu) c.3275G>T (p.Arg1092Leu) c.2688G>T (n.2688G>T) c.2747G>T (p.Arg916Leu) c.3344G>T (p.Arg1115Leu) c.2849G>T (p.Arg950Leu) c.3362G>T (p.Arg1121Leu) c.3080G>T (p.Arg1027Leu) c.3224G>T (p.Arg1075Leu) c.3221G>T (p.Arg1074Leu) c.3083G>T (p.Arg1028Leu) c.2756G>T (p.Arg919Leu) c.2753G>T (p.Arg918Leu) c.2852G>T (p.Arg951Leu) c.*2780G>T (n.*2780G>T) c.2106+182189G>T (n.2106+182189G>T) c.502G>T n.561G>T | |
3 | g.184326897C>A | CA437162084 | EIF2B5,EIF4G1 | c.3342C>A (p.Arg1114=) c.3276C>A (p.Arg1092=) c.2689C>A (n.2689C>A) c.2748C>A (p.Arg916=) c.3345C>A (p.Arg1115=) c.2850C>A (p.Arg950=) c.3363C>A (p.Arg1121=) c.3081C>A (p.Arg1027=) c.3225C>A (p.Arg1075=) c.3222C>A (p.Arg1074=) c.3084C>A (p.Arg1028=) c.2757C>A (p.Arg919=) c.2754C>A (p.Arg918=) c.2853C>A (p.Arg951=) c.*2781C>A (n.*2781C>A) c.2106+182190C>A (n.2106+182190C>A) c.503C>A n.562C>A | |
3 | g.184326897C= | CA1425957755 | EIF2B5,EIF4G1 | c.3342C= (p.Arg1114=) c.3276C= (p.Arg1092=) c.2689C= (n.2689C=) c.2748C= (p.Arg916=) c.3345C= (p.Arg1115=) c.2850C= (p.Arg950=) c.3363C= (p.Arg1121=) c.3081C= (p.Arg1027=) c.3225C= (p.Arg1075=) c.3222C= (p.Arg1074=) c.3084C= (p.Arg1028=) c.2757C= (p.Arg919=) c.2754C= (p.Arg918=) c.2853C= (p.Arg951=) c.*2781C= (n.*2781C=) c.2106+182190C= (n.2106+182190C=) c.503C= n.562C= | |
3 | g.184326897C>G | CA437162082 | EIF2B5,EIF4G1 | c.3342C>G (p.Arg1114=) c.3276C>G (p.Arg1092=) c.2689C>G (n.2689C>G) c.2748C>G (p.Arg916=) c.3345C>G (p.Arg1115=) c.2850C>G (p.Arg950=) c.3363C>G (p.Arg1121=) c.3081C>G (p.Arg1027=) c.3225C>G (p.Arg1075=) c.3222C>G (p.Arg1074=) c.3084C>G (p.Arg1028=) c.2757C>G (p.Arg919=) c.2754C>G (p.Arg918=) c.2853C>G (p.Arg951=) c.*2781C>G (n.*2781C>G) c.2106+182190C>G (n.2106+182190C>G) c.503C>G n.562C>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184326897C>T | CA437162083 | EIF2B5,EIF4G1 | c.3342C>T (p.Arg1114=) c.3276C>T (p.Arg1092=) c.2689C>T (n.2689C>T) c.2748C>T (p.Arg916=) c.3345C>T (p.Arg1115=) c.2850C>T (p.Arg950=) c.3363C>T (p.Arg1121=) c.3081C>T (p.Arg1027=) c.3225C>T (p.Arg1075=) c.3222C>T (p.Arg1074=) c.3084C>T (p.Arg1028=) c.2757C>T (p.Arg919=) c.2754C>T (p.Arg918=) c.2853C>T (p.Arg951=) c.*2781C>T (n.*2781C>T) c.2106+182190C>T (n.2106+182190C>T) c.503C>T n.562C>T | |
3 | g.184326898C>A | CA355413061 | EIF2B5,EIF4G1 | c.3343C>A (p.Pro1115Thr) c.3277C>A (p.Pro1093Thr) c.2690C>A (n.2690C>A) c.2749C>A (p.Pro917Thr) c.3346C>A (p.Pro1116Thr) c.2851C>A (p.Pro951Thr) c.3364C>A (p.Pro1122Thr) c.3082C>A (p.Pro1028Thr) c.3226C>A (p.Pro1076Thr) c.3223C>A (p.Pro1075Thr) c.3085C>A (p.Pro1029Thr) c.2758C>A (p.Pro920Thr) c.2755C>A (p.Pro919Thr) c.2854C>A (p.Pro952Thr) c.*2782C>A (n.*2782C>A) c.2106+182191C>A (n.2106+182191C>A) c.504C>A n.563C>A | |
3 | g.184326898C= | CA1425957757 | EIF2B5,EIF4G1 | c.3343C= (p.Pro1115=) c.3277C= (p.Pro1093=) c.2690C= (n.2690C=) c.2749C= (p.Pro917=) c.3346C= (p.Pro1116=) c.2851C= (p.Pro951=) c.3364C= (p.Pro1122=) c.3082C= (p.Pro1028=) c.3226C= (p.Pro1076=) c.3223C= (p.Pro1075=) c.3085C= (p.Pro1029=) c.2758C= (p.Pro920=) c.2755C= (p.Pro919=) c.2854C= (p.Pro952=) c.*2782C= (n.*2782C=) c.2106+182191C= (n.2106+182191C=) c.504C= n.563C= | |
3 | g.184326898C>G | CA355413063 | EIF2B5,EIF4G1 | c.3343C>G (p.Pro1115Ala) c.3277C>G (p.Pro1093Ala) c.2690C>G (n.2690C>G) c.2749C>G (p.Pro917Ala) c.3346C>G (p.Pro1116Ala) c.2851C>G (p.Pro951Ala) c.3364C>G (p.Pro1122Ala) c.3082C>G (p.Pro1028Ala) c.3226C>G (p.Pro1076Ala) c.3223C>G (p.Pro1075Ala) c.3085C>G (p.Pro1029Ala) c.2758C>G (p.Pro920Ala) c.2755C>G (p.Pro919Ala) c.2854C>G (p.Pro952Ala) c.*2782C>G (n.*2782C>G) c.2106+182191C>G (n.2106+182191C>G) c.504C>G n.563C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326898C>T | CA355413067 | EIF2B5,EIF4G1 | c.3343C>T (p.Pro1115Ser) c.3277C>T (p.Pro1093Ser) c.2690C>T (n.2690C>T) c.2749C>T (p.Pro917Ser) c.3346C>T (p.Pro1116Ser) c.2851C>T (p.Pro951Ser) c.3364C>T (p.Pro1122Ser) c.3082C>T (p.Pro1028Ser) c.3226C>T (p.Pro1076Ser) c.3223C>T (p.Pro1075Ser) c.3085C>T (p.Pro1029Ser) c.2758C>T (p.Pro920Ser) c.2755C>T (p.Pro919Ser) c.2854C>T (p.Pro952Ser) c.*2782C>T (n.*2782C>T) c.2106+182191C>T (n.2106+182191C>T) c.504C>T n.563C>T | |
3 | g.184326899C>A | CA355413076 | EIF2B5,EIF4G1 | c.3344C>A (p.Pro1115Gln) c.3278C>A (p.Pro1093Gln) c.2691C>A (n.2691C>A) c.2750C>A (p.Pro917Gln) c.3347C>A (p.Pro1116Gln) c.2852C>A (p.Pro951Gln) c.3365C>A (p.Pro1122Gln) c.3083C>A (p.Pro1028Gln) c.3227C>A (p.Pro1076Gln) c.3224C>A (p.Pro1075Gln) c.3086C>A (p.Pro1029Gln) c.2759C>A (p.Pro920Gln) c.2756C>A (p.Pro919Gln) c.2855C>A (p.Pro952Gln) c.*2783C>A (n.*2783C>A) c.2106+182192C>A (n.2106+182192C>A) c.505C>A n.564C>A | |
3 | g.184326899C= | CA1425957761 | EIF2B5,EIF4G1 | c.3344C= (p.Pro1115=) c.3278C= (p.Pro1093=) c.2691C= (n.2691C=) c.2750C= (p.Pro917=) c.3347C= (p.Pro1116=) c.2852C= (p.Pro951=) c.3365C= (p.Pro1122=) c.3083C= (p.Pro1028=) c.3227C= (p.Pro1076=) c.3224C= (p.Pro1075=) c.3086C= (p.Pro1029=) c.2759C= (p.Pro920=) c.2756C= (p.Pro919=) c.2855C= (p.Pro952=) c.*2783C= (n.*2783C=) c.2106+182192C= (n.2106+182192C=) c.505C= n.564C= | |
3 | g.184326899C>G | CA355413074 | EIF2B5,EIF4G1 | c.3344C>G (p.Pro1115Arg) c.3278C>G (p.Pro1093Arg) c.2691C>G (n.2691C>G) c.2750C>G (p.Pro917Arg) c.3347C>G (p.Pro1116Arg) c.2852C>G (p.Pro951Arg) c.3365C>G (p.Pro1122Arg) c.3083C>G (p.Pro1028Arg) c.3227C>G (p.Pro1076Arg) c.3224C>G (p.Pro1075Arg) c.3086C>G (p.Pro1029Arg) c.2759C>G (p.Pro920Arg) c.2756C>G (p.Pro919Arg) c.2855C>G (p.Pro952Arg) c.*2783C>G (n.*2783C>G) c.2106+182192C>G (n.2106+182192C>G) c.505C>G n.564C>G | |
3 | g.184326899C>T | CA355413071 | EIF2B5,EIF4G1 | c.3344C>T (p.Pro1115Leu) c.3278C>T (p.Pro1093Leu) c.2691C>T (n.2691C>T) c.2750C>T (p.Pro917Leu) c.3347C>T (p.Pro1116Leu) c.2852C>T (p.Pro951Leu) c.3365C>T (p.Pro1122Leu) c.3083C>T (p.Pro1028Leu) c.3227C>T (p.Pro1076Leu) c.3224C>T (p.Pro1075Leu) c.3086C>T (p.Pro1029Leu) c.2759C>T (p.Pro920Leu) c.2756C>T (p.Pro919Leu) c.2855C>T (p.Pro952Leu) c.*2783C>T (n.*2783C>T) c.2106+182192C>T (n.2106+182192C>T) c.505C>T n.564C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184326900A= | CA1425957763 | EIF2B5,EIF4G1 | c.3345A= (p.Pro1115=) c.3279A= (p.Pro1093=) c.2692A= (n.2692A=) c.2751A= (p.Pro917=) c.3348A= (p.Pro1116=) c.2853A= (p.Pro951=) c.3366A= (p.Pro1122=) c.3084A= (p.Pro1028=) c.3228A= (p.Pro1076=) c.3225A= (p.Pro1075=) c.3087A= (p.Pro1029=) c.2760A= (p.Pro920=) c.2757A= (p.Pro919=) c.2856A= (p.Pro952=) c.*2784A= (n.*2784A=) c.2106+182193A= (n.2106+182193A=) c.506A= n.565A= | |
3 | g.184326900A>C | CA437162085 | EIF2B5,EIF4G1 | c.3345A>C (p.Pro1115=) c.3279A>C (p.Pro1093=) c.2692A>C (n.2692A>C) c.2751A>C (p.Pro917=) c.3348A>C (p.Pro1116=) c.2853A>C (p.Pro951=) c.3366A>C (p.Pro1122=) c.3084A>C (p.Pro1028=) c.3228A>C (p.Pro1076=) c.3225A>C (p.Pro1075=) c.3087A>C (p.Pro1029=) c.2760A>C (p.Pro920=) c.2757A>C (p.Pro919=) c.2856A>C (p.Pro952=) c.*2784A>C (n.*2784A>C) c.2106+182193A>C (n.2106+182193A>C) c.506A>C n.565A>C | |
3 | g.184326900A>G | CA437162086 | EIF2B5,EIF4G1 | c.3345A>G (p.Pro1115=) c.3279A>G (p.Pro1093=) c.2692A>G (n.2692A>G) c.2751A>G (p.Pro917=) c.3348A>G (p.Pro1116=) c.2853A>G (p.Pro951=) c.3366A>G (p.Pro1122=) c.3084A>G (p.Pro1028=) c.3228A>G (p.Pro1076=) c.3225A>G (p.Pro1075=) c.3087A>G (p.Pro1029=) c.2760A>G (p.Pro920=) c.2757A>G (p.Pro919=) c.2856A>G (p.Pro952=) c.*2784A>G (n.*2784A>G) c.2106+182193A>G (n.2106+182193A>G) c.506A>G n.565A>G | |
3 | g.184326900A>T | CA437162087 | EIF2B5,EIF4G1 | c.3345A>T (p.Pro1115=) c.3279A>T (p.Pro1093=) c.2692A>T (n.2692A>T) c.2751A>T (p.Pro917=) c.3348A>T (p.Pro1116=) c.2853A>T (p.Pro951=) c.3366A>T (p.Pro1122=) c.3084A>T (p.Pro1028=) c.3228A>T (p.Pro1076=) c.3225A>T (p.Pro1075=) c.3087A>T (p.Pro1029=) c.2760A>T (p.Pro920=) c.2757A>T (p.Pro919=) c.2856A>T (p.Pro952=) c.*2784A>T (n.*2784A>T) c.2106+182193A>T (n.2106+182193A>T) c.506A>T n.565A>T | |
3 | g.184326901G>A | CA88867228 | EIF2B5,EIF4G1 | c.3346G>A (p.Ala1116Thr) c.3280G>A (p.Ala1094Thr) c.2693G>A (n.2693G>A) c.2752G>A (p.Ala918Thr) c.3349G>A (p.Ala1117Thr) c.2854G>A (p.Ala952Thr) c.3367G>A (p.Ala1123Thr) c.3085G>A (p.Ala1029Thr) c.3229G>A (p.Ala1077Thr) c.3226G>A (p.Ala1076Thr) c.3088G>A (p.Ala1030Thr) c.2761G>A (p.Ala921Thr) c.2758G>A (p.Ala920Thr) c.2857G>A (p.Ala953Thr) c.*2785G>A (n.*2785G>A) c.2106+182194G>A (n.2106+182194G>A) c.507G>A n.566G>A | dbSNP |
3 | g.184326901G>C | CA355413081 | EIF2B5,EIF4G1 | c.3346G>C (p.Ala1116Pro) c.3280G>C (p.Ala1094Pro) c.2693G>C (n.2693G>C) c.2752G>C (p.Ala918Pro) c.3349G>C (p.Ala1117Pro) c.2854G>C (p.Ala952Pro) c.3367G>C (p.Ala1123Pro) c.3085G>C (p.Ala1029Pro) c.3229G>C (p.Ala1077Pro) c.3226G>C (p.Ala1076Pro) c.3088G>C (p.Ala1030Pro) c.2761G>C (p.Ala921Pro) c.2758G>C (p.Ala920Pro) c.2857G>C (p.Ala953Pro) c.*2785G>C (n.*2785G>C) c.2106+182194G>C (n.2106+182194G>C) c.507G>C n.566G>C | |
3 | g.184326901G= | CA1425957767 | EIF2B5,EIF4G1 | c.3346G= (p.Ala1116=) c.3280G= (p.Ala1094=) c.2693G= (n.2693G=) c.2752G= (p.Ala918=) c.3349G= (p.Ala1117=) c.2854G= (p.Ala952=) c.3367G= (p.Ala1123=) c.3085G= (p.Ala1029=) c.3229G= (p.Ala1077=) c.3226G= (p.Ala1076=) c.3088G= (p.Ala1030=) c.2761G= (p.Ala921=) c.2758G= (p.Ala920=) c.2857G= (p.Ala953=) c.*2785G= (n.*2785G=) c.2106+182194G= (n.2106+182194G=) c.507G= n.566G= | |
3 | g.184326901G>T | CA355413084 | EIF2B5,EIF4G1 | c.3346G>T (p.Ala1116Ser) c.3280G>T (p.Ala1094Ser) c.2693G>T (n.2693G>T) c.2752G>T (p.Ala918Ser) c.3349G>T (p.Ala1117Ser) c.2854G>T (p.Ala952Ser) c.3367G>T (p.Ala1123Ser) c.3085G>T (p.Ala1029Ser) c.3229G>T (p.Ala1077Ser) c.3226G>T (p.Ala1076Ser) c.3088G>T (p.Ala1030Ser) c.2761G>T (p.Ala921Ser) c.2758G>T (p.Ala920Ser) c.2857G>T (p.Ala953Ser) c.*2785G>T (n.*2785G>T) c.2106+182194G>T (n.2106+182194G>T) c.507G>T n.566G>T | |
3 | g.184326901_184326903dup | CA548796073 | EIF2B5,EIF4G1 | c.3346_3348dup (p.Ala1116_Thr1117insAla) c.3280_3282dup (p.Ala1094_Thr1095insAla) c.2693_2695dup (n.2693_2695dup) c.2752_2754dup (p.Ala918_Thr919insAla) c.3349_3351dup (p.Ala1117_Thr1118insAla) c.2854_2856dup (p.Ala952_Thr953insAla) c.3367_3369dup (p.Ala1123_Thr1124insAla) c.3085_3087dup (p.Ala1029_Thr1030insAla) c.3229_3231dup (p.Ala1077_Thr1078insAla) c.3226_3228dup (p.Ala1076_Thr1077insAla) c.3088_3090dup (p.Ala1030_Thr1031insAla) c.2761_2763dup (p.Ala921_Thr922insAla) c.2758_2760dup (p.Ala920_Thr921insAla) c.2857_2859dup (p.Ala953_Thr954insAla) c.*2785_*2787dup (n.*2785_*2787dup) c.2106+182194_2106+182196dup (n.2106+182194_2106+182196dup) c.507_509dup n.566_568dup | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184326902C>A | CA355413090 | EIF2B5,EIF4G1 | c.3347C>A (p.Ala1116Asp) c.3281C>A (p.Ala1094Asp) c.2694C>A (n.2694C>A) c.2753C>A (p.Ala918Asp) c.3350C>A (p.Ala1117Asp) c.2855C>A (p.Ala952Asp) c.3368C>A (p.Ala1123Asp) c.3086C>A (p.Ala1029Asp) c.3230C>A (p.Ala1077Asp) c.3227C>A (p.Ala1076Asp) c.3089C>A (p.Ala1030Asp) c.2762C>A (p.Ala921Asp) c.2759C>A (p.Ala920Asp) c.2858C>A (p.Ala953Asp) c.*2786C>A (n.*2786C>A) c.2106+182195C>A (n.2106+182195C>A) c.508C>A n.567C>A | |
3 | g.184326902C= | CA1425957769 | EIF2B5,EIF4G1 | c.3347C= (p.Ala1116=) c.3281C= (p.Ala1094=) c.2694C= (n.2694C=) c.2753C= (p.Ala918=) c.3350C= (p.Ala1117=) c.2855C= (p.Ala952=) c.3368C= (p.Ala1123=) c.3086C= (p.Ala1029=) c.3230C= (p.Ala1077=) c.3227C= (p.Ala1076=) c.3089C= (p.Ala1030=) c.2762C= (p.Ala921=) c.2759C= (p.Ala920=) c.2858C= (p.Ala953=) c.*2786C= (n.*2786C=) c.2106+182195C= (n.2106+182195C=) c.508C= n.567C= | |
3 | g.184326902C>G | CA355413091 | EIF2B5,EIF4G1 | c.3347C>G (p.Ala1116Gly) c.3281C>G (p.Ala1094Gly) c.2694C>G (n.2694C>G) c.2753C>G (p.Ala918Gly) c.3350C>G (p.Ala1117Gly) c.2855C>G (p.Ala952Gly) c.3368C>G (p.Ala1123Gly) c.3086C>G (p.Ala1029Gly) c.3230C>G (p.Ala1077Gly) c.3227C>G (p.Ala1076Gly) c.3089C>G (p.Ala1030Gly) c.2762C>G (p.Ala921Gly) c.2759C>G (p.Ala920Gly) c.2858C>G (p.Ala953Gly) c.*2786C>G (n.*2786C>G) c.2106+182195C>G (n.2106+182195C>G) c.508C>G n.567C>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184326902C>T | CA355413094 | EIF2B5,EIF4G1 | c.3347C>T (p.Ala1116Val) c.3281C>T (p.Ala1094Val) c.2694C>T (n.2694C>T) c.2753C>T (p.Ala918Val) c.3350C>T (p.Ala1117Val) c.2855C>T (p.Ala952Val) c.3368C>T (p.Ala1123Val) c.3086C>T (p.Ala1029Val) c.3230C>T (p.Ala1077Val) c.3227C>T (p.Ala1076Val) c.3089C>T (p.Ala1030Val) c.2762C>T (p.Ala921Val) c.2759C>T (p.Ala920Val) c.2858C>T (p.Ala953Val) c.*2786C>T (n.*2786C>T) c.2106+182195C>T (n.2106+182195C>T) c.508C>T n.567C>T | |
3 | g.184326903T>A | CA437162090 | EIF2B5,EIF4G1 | c.3348T>A (p.Ala1116=) c.3282T>A (p.Ala1094=) c.2695T>A (n.2695T>A) c.2754T>A (p.Ala918=) c.3351T>A (p.Ala1117=) c.2856T>A (p.Ala952=) c.3369T>A (p.Ala1123=) c.3087T>A (p.Ala1029=) c.3231T>A (p.Ala1077=) c.3228T>A (p.Ala1076=) c.3090T>A (p.Ala1030=) c.2763T>A (p.Ala921=) c.2760T>A (p.Ala920=) c.2859T>A (p.Ala953=) c.*2787T>A (n.*2787T>A) c.2106+182196T>A (n.2106+182196T>A) c.509T>A n.568T>A | |
3 | g.184326903T>C | CA437162088 | EIF2B5,EIF4G1 | c.3348T>C (p.Ala1116=) c.3282T>C (p.Ala1094=) c.2695T>C (n.2695T>C) c.2754T>C (p.Ala918=) c.3351T>C (p.Ala1117=) c.2856T>C (p.Ala952=) c.3369T>C (p.Ala1123=) c.3087T>C (p.Ala1029=) c.3231T>C (p.Ala1077=) c.3228T>C (p.Ala1076=) c.3090T>C (p.Ala1030=) c.2763T>C (p.Ala921=) c.2760T>C (p.Ala920=) c.2859T>C (p.Ala953=) c.*2787T>C (n.*2787T>C) c.2106+182196T>C (n.2106+182196T>C) c.509T>C n.568T>C | |
3 | g.184326903T>G | CA437162089 | EIF2B5,EIF4G1 | c.3348T>G (p.Ala1116=) c.3282T>G (p.Ala1094=) c.2695T>G (n.2695T>G) c.2754T>G (p.Ala918=) c.3351T>G (p.Ala1117=) c.2856T>G (p.Ala952=) c.3369T>G (p.Ala1123=) c.3087T>G (p.Ala1029=) c.3231T>G (p.Ala1077=) c.3228T>G (p.Ala1076=) c.3090T>G (p.Ala1030=) c.2763T>G (p.Ala921=) c.2760T>G (p.Ala920=) c.2859T>G (p.Ala953=) c.*2787T>G (n.*2787T>G) c.2106+182196T>G (n.2106+182196T>G) c.509T>G n.568T>G | |
3 | g.184326904A= | CA1425957773 | EIF2B5,EIF4G1 | c.3349A= (p.Thr1117=) c.3283A= (p.Thr1095=) c.2696A= (n.2696A=) c.2755A= (p.Thr919=) c.3352A= (p.Thr1118=) c.2857A= (p.Thr953=) c.3370A= (p.Thr1124=) c.3088A= (p.Thr1030=) c.3232A= (p.Thr1078=) c.3229A= (p.Thr1077=) c.3091A= (p.Thr1031=) c.2764A= (p.Thr922=) c.2761A= (p.Thr921=) c.2860A= (p.Thr954=) c.*2788A= (n.*2788A=) c.2106+182197A= (n.2106+182197A=) c.510A= n.569A= | |
3 | g.184326904A>C | CA355413097 | EIF2B5,EIF4G1 | c.3349A>C (p.Thr1117Pro) c.3283A>C (p.Thr1095Pro) c.2696A>C (n.2696A>C) c.2755A>C (p.Thr919Pro) c.3352A>C (p.Thr1118Pro) c.2857A>C (p.Thr953Pro) c.3370A>C (p.Thr1124Pro) c.3088A>C (p.Thr1030Pro) c.3232A>C (p.Thr1078Pro) c.3229A>C (p.Thr1077Pro) c.3091A>C (p.Thr1031Pro) c.2764A>C (p.Thr922Pro) c.2761A>C (p.Thr921Pro) c.2860A>C (p.Thr954Pro) c.*2788A>C (n.*2788A>C) c.2106+182197A>C (n.2106+182197A>C) c.510A>C n.569A>C | |
3 | g.184326904A>G | CA88867229 | EIF2B5,EIF4G1 | c.3349A>G (p.Thr1117Ala) c.3283A>G (p.Thr1095Ala) c.2696A>G (n.2696A>G) c.2755A>G (p.Thr919Ala) c.3352A>G (p.Thr1118Ala) c.2857A>G (p.Thr953Ala) c.3370A>G (p.Thr1124Ala) c.3088A>G (p.Thr1030Ala) c.3232A>G (p.Thr1078Ala) c.3229A>G (p.Thr1077Ala) c.3091A>G (p.Thr1031Ala) c.2764A>G (p.Thr922Ala) c.2761A>G (p.Thr921Ala) c.2860A>G (p.Thr954Ala) c.*2788A>G (n.*2788A>G) c.2106+182197A>G (n.2106+182197A>G) c.510A>G n.569A>G | dbSNP gnomAD v4 COSMIC |
3 | g.184326904A>T | CA355413101 | EIF2B5,EIF4G1 | c.3349A>T (p.Thr1117Ser) c.3283A>T (p.Thr1095Ser) c.2696A>T (n.2696A>T) c.2755A>T (p.Thr919Ser) c.3352A>T (p.Thr1118Ser) c.2857A>T (p.Thr953Ser) c.3370A>T (p.Thr1124Ser) c.3088A>T (p.Thr1030Ser) c.3232A>T (p.Thr1078Ser) c.3229A>T (p.Thr1077Ser) c.3091A>T (p.Thr1031Ser) c.2764A>T (p.Thr922Ser) c.2761A>T (p.Thr921Ser) c.2860A>T (p.Thr954Ser) c.*2788A>T (n.*2788A>T) c.2106+182197A>T (n.2106+182197A>T) c.510A>T n.569A>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184326905C>A | CA355413105 | EIF2B5,EIF4G1 | c.3350C>A (p.Thr1117Asn) c.3284C>A (p.Thr1095Asn) c.2697C>A (n.2697C>A) c.2756C>A (p.Thr919Asn) c.3353C>A (p.Thr1118Asn) c.2858C>A (p.Thr953Asn) c.3371C>A (p.Thr1124Asn) c.3089C>A (p.Thr1030Asn) c.3233C>A (p.Thr1078Asn) c.3230C>A (p.Thr1077Asn) c.3092C>A (p.Thr1031Asn) c.2765C>A (p.Thr922Asn) c.2762C>A (p.Thr921Asn) c.2861C>A (p.Thr954Asn) c.*2789C>A (n.*2789C>A) c.2106+182198C>A (n.2106+182198C>A) c.511C>A n.570C>A | |
3 | g.184326905C>G | CA355413106 | EIF2B5,EIF4G1 | c.3350C>G (p.Thr1117Ser) c.3284C>G (p.Thr1095Ser) c.2697C>G (n.2697C>G) c.2756C>G (p.Thr919Ser) c.3353C>G (p.Thr1118Ser) c.2858C>G (p.Thr953Ser) c.3371C>G (p.Thr1124Ser) c.3089C>G (p.Thr1030Ser) c.3233C>G (p.Thr1078Ser) c.3230C>G (p.Thr1077Ser) c.3092C>G (p.Thr1031Ser) c.2765C>G (p.Thr922Ser) c.2762C>G (p.Thr921Ser) c.2861C>G (p.Thr954Ser) c.*2789C>G (n.*2789C>G) c.2106+182198C>G (n.2106+182198C>G) c.511C>G n.570C>G | |
3 | g.184326905C>T | CA355413110 | EIF2B5,EIF4G1 | c.3350C>T (p.Thr1117Ile) c.3284C>T (p.Thr1095Ile) c.2697C>T (n.2697C>T) c.2756C>T (p.Thr919Ile) c.3353C>T (p.Thr1118Ile) c.2858C>T (p.Thr953Ile) c.3371C>T (p.Thr1124Ile) c.3089C>T (p.Thr1030Ile) c.3233C>T (p.Thr1078Ile) c.3230C>T (p.Thr1077Ile) c.3092C>T (p.Thr1031Ile) c.2765C>T (p.Thr922Ile) c.2762C>T (p.Thr921Ile) c.2861C>T (p.Thr954Ile) c.*2789C>T (n.*2789C>T) c.2106+182198C>T (n.2106+182198C>T) c.511C>T n.570C>T | gnomAD v4 |
3 | g.184326906T>A | CA437162091 | EIF2B5,EIF4G1 | c.3351T>A (p.Thr1117=) c.3285T>A (p.Thr1095=) c.2698T>A (n.2698T>A) c.2757T>A (p.Thr919=) c.3354T>A (p.Thr1118=) c.2859T>A (p.Thr953=) c.3372T>A (p.Thr1124=) c.3090T>A (p.Thr1030=) c.3234T>A (p.Thr1078=) c.3231T>A (p.Thr1077=) c.3093T>A (p.Thr1031=) c.2766T>A (p.Thr922=) c.2763T>A (p.Thr921=) c.2862T>A (p.Thr954=) c.*2790T>A (n.*2790T>A) c.2106+182199T>A (n.2106+182199T>A) c.512T>A n.571T>A | |
3 | g.184326906T>C | CA437162092 | EIF2B5,EIF4G1 | c.3351T>C (p.Thr1117=) c.3285T>C (p.Thr1095=) c.2698T>C (n.2698T>C) c.2757T>C (p.Thr919=) c.3354T>C (p.Thr1118=) c.2859T>C (p.Thr953=) c.3372T>C (p.Thr1124=) c.3090T>C (p.Thr1030=) c.3234T>C (p.Thr1078=) c.3231T>C (p.Thr1077=) c.3093T>C (p.Thr1031=) c.2766T>C (p.Thr922=) c.2763T>C (p.Thr921=) c.2862T>C (p.Thr954=) c.*2790T>C (n.*2790T>C) c.2106+182199T>C (n.2106+182199T>C) c.512T>C n.571T>C | |
3 | g.184326906T>G | CA437162093 | EIF2B5,EIF4G1 | c.3351T>G (p.Thr1117=) c.3285T>G (p.Thr1095=) c.2698T>G (n.2698T>G) c.2757T>G (p.Thr919=) c.3354T>G (p.Thr1118=) c.2859T>G (p.Thr953=) c.3372T>G (p.Thr1124=) c.3090T>G (p.Thr1030=) c.3234T>G (p.Thr1078=) c.3231T>G (p.Thr1077=) c.3093T>G (p.Thr1031=) c.2766T>G (p.Thr922=) c.2763T>G (p.Thr921=) c.2862T>G (p.Thr954=) c.*2790T>G (n.*2790T>G) c.2106+182199T>G (n.2106+182199T>G) c.512T>G n.571T>G | |
3 | g.184326907A>C | CA355413119 | EIF2B5,EIF4G1 | c.3352A>C (p.Ser1118Arg) c.3286A>C (p.Ser1096Arg) c.2699A>C (n.2699A>C) c.2758A>C (p.Ser920Arg) c.3355A>C (p.Ser1119Arg) c.2860A>C (p.Ser954Arg) c.3373A>C (p.Ser1125Arg) c.3091A>C (p.Ser1031Arg) c.3235A>C (p.Ser1079Arg) c.3232A>C (p.Ser1078Arg) c.3094A>C (p.Ser1032Arg) c.2767A>C (p.Ser923Arg) c.2764A>C (p.Ser922Arg) c.2863A>C (p.Ser955Arg) c.*2791A>C (n.*2791A>C) c.2106+182200A>C (n.2106+182200A>C) c.513A>C n.572A>C | |
3 | g.184326907A>G | CA355413122 | EIF2B5,EIF4G1 | c.3352A>G (p.Ser1118Gly) c.3286A>G (p.Ser1096Gly) c.2699A>G (n.2699A>G) c.2758A>G (p.Ser920Gly) c.3355A>G (p.Ser1119Gly) c.2860A>G (p.Ser954Gly) c.3373A>G (p.Ser1125Gly) c.3091A>G (p.Ser1031Gly) c.3235A>G (p.Ser1079Gly) c.3232A>G (p.Ser1078Gly) c.3094A>G (p.Ser1032Gly) c.2767A>G (p.Ser923Gly) c.2764A>G (p.Ser922Gly) c.2863A>G (p.Ser955Gly) c.*2791A>G (n.*2791A>G) c.2106+182200A>G (n.2106+182200A>G) c.513A>G n.572A>G | gnomAD v4 |
3 | g.184326907A>T | CA355413116 | EIF2B5,EIF4G1 | c.3352A>T (p.Ser1118Cys) c.3286A>T (p.Ser1096Cys) c.2699A>T (n.2699A>T) c.2758A>T (p.Ser920Cys) c.3355A>T (p.Ser1119Cys) c.2860A>T (p.Ser954Cys) c.3373A>T (p.Ser1125Cys) c.3091A>T (p.Ser1031Cys) c.3235A>T (p.Ser1079Cys) c.3232A>T (p.Ser1078Cys) c.3094A>T (p.Ser1032Cys) c.2767A>T (p.Ser923Cys) c.2764A>T (p.Ser922Cys) c.2863A>T (p.Ser955Cys) c.*2791A>T (n.*2791A>T) c.2106+182200A>T (n.2106+182200A>T) c.513A>T n.572A>T | |
3 | g.184326908G>A | CA355413125 | EIF2B5,EIF4G1 | c.3353G>A (p.Ser1118Asn) c.3287G>A (p.Ser1096Asn) c.2700G>A (n.2700G>A) c.2759G>A (p.Ser920Asn) c.3356G>A (p.Ser1119Asn) c.2861G>A (p.Ser954Asn) c.3374G>A (p.Ser1125Asn) c.3092G>A (p.Ser1031Asn) c.3236G>A (p.Ser1079Asn) c.3233G>A (p.Ser1078Asn) c.3095G>A (p.Ser1032Asn) c.2768G>A (p.Ser923Asn) c.2765G>A (p.Ser922Asn) c.2864G>A (p.Ser955Asn) c.*2792G>A (n.*2792G>A) c.2106+182201G>A (n.2106+182201G>A) c.514G>A n.573G>A | gnomAD v4 |
3 | g.184326908G>C | CA355413129 | EIF2B5,EIF4G1 | c.3353G>C (p.Ser1118Thr) c.3287G>C (p.Ser1096Thr) c.2700G>C (n.2700G>C) c.2759G>C (p.Ser920Thr) c.3356G>C (p.Ser1119Thr) c.2861G>C (p.Ser954Thr) c.3374G>C (p.Ser1125Thr) c.3092G>C (p.Ser1031Thr) c.3236G>C (p.Ser1079Thr) c.3233G>C (p.Ser1078Thr) c.3095G>C (p.Ser1032Thr) c.2768G>C (p.Ser923Thr) c.2765G>C (p.Ser922Thr) c.2864G>C (p.Ser955Thr) c.*2792G>C (n.*2792G>C) c.2106+182201G>C (n.2106+182201G>C) c.514G>C n.573G>C | |
3 | g.184326908G>T | CA355413132 | EIF2B5,EIF4G1 | c.3353G>T (p.Ser1118Ile) c.3287G>T (p.Ser1096Ile) c.2700G>T (n.2700G>T) c.2759G>T (p.Ser920Ile) c.3356G>T (p.Ser1119Ile) c.2861G>T (p.Ser954Ile) c.3374G>T (p.Ser1125Ile) c.3092G>T (p.Ser1031Ile) c.3236G>T (p.Ser1079Ile) c.3233G>T (p.Ser1078Ile) c.3095G>T (p.Ser1032Ile) c.2768G>T (p.Ser923Ile) c.2765G>T (p.Ser922Ile) c.2864G>T (p.Ser955Ile) c.*2792G>T (n.*2792G>T) c.2106+182201G>T (n.2106+182201G>T) c.514G>T n.573G>T | |
3 | g.184326909T>A | CA355413134 | EIF2B5,EIF4G1 | c.3354T>A (p.Ser1118Arg) c.3288T>A (p.Ser1096Arg) c.2701T>A (n.2701T>A) c.2760T>A (p.Ser920Arg) c.3357T>A (p.Ser1119Arg) c.2862T>A (p.Ser954Arg) c.3375T>A (p.Ser1125Arg) c.3093T>A (p.Ser1031Arg) c.3237T>A (p.Ser1079Arg) c.3234T>A (p.Ser1078Arg) c.3096T>A (p.Ser1032Arg) c.2769T>A (p.Ser923Arg) c.2766T>A (p.Ser922Arg) c.2865T>A (p.Ser955Arg) c.*2793T>A (n.*2793T>A) c.2106+182202T>A (n.2106+182202T>A) c.515T>A | dbSNP |
3 | g.184326909T>C | CA437162094 | EIF2B5,EIF4G1 | c.3354T>C (p.Ser1118=) c.3288T>C (p.Ser1096=) c.2701T>C (n.2701T>C) c.2760T>C (p.Ser920=) c.3357T>C (p.Ser1119=) c.2862T>C (p.Ser954=) c.3375T>C (p.Ser1125=) c.3093T>C (p.Ser1031=) c.3237T>C (p.Ser1079=) c.3234T>C (p.Ser1078=) c.3096T>C (p.Ser1032=) c.2769T>C (p.Ser923=) c.2766T>C (p.Ser922=) c.2865T>C (p.Ser955=) c.*2793T>C (n.*2793T>C) c.2106+182202T>C (n.2106+182202T>C) c.515T>C | dbSNP |
3 | g.184326909T>G | CA355413139 | EIF2B5,EIF4G1 | c.3354T>G (p.Ser1118Arg) c.3288T>G (p.Ser1096Arg) c.2701T>G (n.2701T>G) c.2760T>G (p.Ser920Arg) c.3357T>G (p.Ser1119Arg) c.2862T>G (p.Ser954Arg) c.3375T>G (p.Ser1125Arg) c.3093T>G (p.Ser1031Arg) c.3237T>G (p.Ser1079Arg) c.3234T>G (p.Ser1078Arg) c.3096T>G (p.Ser1032Arg) c.2769T>G (p.Ser923Arg) c.2766T>G (p.Ser922Arg) c.2865T>G (p.Ser955Arg) c.*2793T>G (n.*2793T>G) c.2106+182202T>G (n.2106+182202T>G) c.515T>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184326909T= | CA1425957777 | EIF2B5,EIF4G1 | c.3354T= (p.Ser1118=) c.3288T= (p.Ser1096=) c.2701T= (n.2701T=) c.2760T= (p.Ser920=) c.3357T= (p.Ser1119=) c.2862T= (p.Ser954=) c.3375T= (p.Ser1125=) c.3093T= (p.Ser1031=) c.3237T= (p.Ser1079=) c.3234T= (p.Ser1078=) c.3096T= (p.Ser1032=) c.2769T= (p.Ser923=) c.2766T= (p.Ser922=) c.2865T= (p.Ser955=) c.*2793T= (n.*2793T=) c.2106+182202T= (n.2106+182202T=) c.515T= | |
3 | g.184326910A>C | CA355413150 | EIF2B5,EIF4G1 | c.3355A>C (p.Thr1119Pro) c.3289A>C (p.Thr1097Pro) c.2702A>C (n.2702A>C) c.2761A>C (p.Thr921Pro) c.3358A>C (p.Thr1120Pro) c.2863A>C (p.Thr955Pro) c.3376A>C (p.Thr1126Pro) c.3094A>C (p.Thr1032Pro) c.3238A>C (p.Thr1080Pro) c.3235A>C (p.Thr1079Pro) c.3097A>C (p.Thr1033Pro) c.2770A>C (p.Thr924Pro) c.2767A>C (p.Thr923Pro) c.2866A>C (p.Thr956Pro) c.*2794A>C (n.*2794A>C) c.2106+182203A>C (n.2106+182203A>C) c.516A>C | |
3 | g.184326910A>G | CA355413147 | EIF2B5,EIF4G1 | c.3355A>G (p.Thr1119Ala) c.3289A>G (p.Thr1097Ala) c.2702A>G (n.2702A>G) c.2761A>G (p.Thr921Ala) c.3358A>G (p.Thr1120Ala) c.2863A>G (p.Thr955Ala) c.3376A>G (p.Thr1126Ala) c.3094A>G (p.Thr1032Ala) c.3238A>G (p.Thr1080Ala) c.3235A>G (p.Thr1079Ala) c.3097A>G (p.Thr1033Ala) c.2770A>G (p.Thr924Ala) c.2767A>G (p.Thr923Ala) c.2866A>G (p.Thr956Ala) c.*2794A>G (n.*2794A>G) c.2106+182203A>G (n.2106+182203A>G) c.516A>G | |
3 | g.184326910A>T | CA355413143 | EIF2B5,EIF4G1 | c.3355A>T (p.Thr1119Ser) c.3289A>T (p.Thr1097Ser) c.2702A>T (n.2702A>T) c.2761A>T (p.Thr921Ser) c.3358A>T (p.Thr1120Ser) c.2863A>T (p.Thr955Ser) c.3376A>T (p.Thr1126Ser) c.3094A>T (p.Thr1032Ser) c.3238A>T (p.Thr1080Ser) c.3235A>T (p.Thr1079Ser) c.3097A>T (p.Thr1033Ser) c.2770A>T (p.Thr924Ser) c.2767A>T (p.Thr923Ser) c.2866A>T (p.Thr956Ser) c.*2794A>T (n.*2794A>T) c.2106+182203A>T (n.2106+182203A>T) c.516A>T | |
3 | g.184326911C>A | CA355413155 | EIF2B5,EIF4G1 | c.3356C>A (p.Thr1119Asn) c.3290C>A (p.Thr1097Asn) c.2703C>A (n.2703C>A) c.2762C>A (p.Thr921Asn) c.3359C>A (p.Thr1120Asn) c.2864C>A (p.Thr955Asn) c.3377C>A (p.Thr1126Asn) c.3095C>A (p.Thr1032Asn) c.3239C>A (p.Thr1080Asn) c.3236C>A (p.Thr1079Asn) c.3098C>A (p.Thr1033Asn) c.2771C>A (p.Thr924Asn) c.2768C>A (p.Thr923Asn) c.2867C>A (p.Thr956Asn) c.*2795C>A (n.*2795C>A) c.2106+182204C>A (n.2106+182204C>A) c.517C>A | |
3 | g.184326911C= | CA1425957780 | EIF2B5,EIF4G1 | c.3356C= (p.Thr1119=) c.3290C= (p.Thr1097=) c.2703C= (n.2703C=) c.2762C= (p.Thr921=) c.3359C= (p.Thr1120=) c.2864C= (p.Thr955=) c.3377C= (p.Thr1126=) c.3095C= (p.Thr1032=) c.3239C= (p.Thr1080=) c.3236C= (p.Thr1079=) c.3098C= (p.Thr1033=) c.2771C= (p.Thr924=) c.2768C= (p.Thr923=) c.2867C= (p.Thr956=) c.*2795C= (n.*2795C=) c.2106+182204C= (n.2106+182204C=) c.517C= | |
3 | g.184326911C>G | CA355413157 | EIF2B5,EIF4G1 | c.3356C>G (p.Thr1119Ser) c.3290C>G (p.Thr1097Ser) c.2703C>G (n.2703C>G) c.2762C>G (p.Thr921Ser) c.3359C>G (p.Thr1120Ser) c.2864C>G (p.Thr955Ser) c.3377C>G (p.Thr1126Ser) c.3095C>G (p.Thr1032Ser) c.3239C>G (p.Thr1080Ser) c.3236C>G (p.Thr1079Ser) c.3098C>G (p.Thr1033Ser) c.2771C>G (p.Thr924Ser) c.2768C>G (p.Thr923Ser) c.2867C>G (p.Thr956Ser) c.*2795C>G (n.*2795C>G) c.2106+182204C>G (n.2106+182204C>G) c.517C>G | |
3 | g.184326911C>T | CA2732771 | EIF2B5,EIF4G1 | c.3356C>T (p.Thr1119Ile) c.3290C>T (p.Thr1097Ile) c.2703C>T (n.2703C>T) c.2762C>T (p.Thr921Ile) c.3359C>T (p.Thr1120Ile) c.2864C>T (p.Thr955Ile) c.3377C>T (p.Thr1126Ile) c.3095C>T (p.Thr1032Ile) c.3239C>T (p.Thr1080Ile) c.3236C>T (p.Thr1079Ile) c.3098C>T (p.Thr1033Ile) c.2771C>T (p.Thr924Ile) c.2768C>T (p.Thr923Ile) c.2867C>T (p.Thr956Ile) c.*2795C>T (n.*2795C>T) c.2106+182204C>T (n.2106+182204C>T) c.517C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326912T>A | CA437162095 | EIF2B5,EIF4G1 | c.3357T>A (p.Thr1119=) c.3291T>A (p.Thr1097=) c.2704T>A (n.2704T>A) c.2763T>A (p.Thr921=) c.3360T>A (p.Thr1120=) c.2865T>A (p.Thr955=) c.3378T>A (p.Thr1126=) c.3096T>A (p.Thr1032=) c.3240T>A (p.Thr1080=) c.3237T>A (p.Thr1079=) c.3099T>A (p.Thr1033=) c.2772T>A (p.Thr924=) c.2769T>A (p.Thr923=) c.2868T>A (p.Thr956=) c.*2796T>A (n.*2796T>A) c.2106+182205T>A (n.2106+182205T>A) c.518T>A | |
3 | g.184326912T>C | CA437162096 | EIF2B5,EIF4G1 | c.3357T>C (p.Thr1119=) c.3291T>C (p.Thr1097=) c.2704T>C (n.2704T>C) c.2763T>C (p.Thr921=) c.3360T>C (p.Thr1120=) c.2865T>C (p.Thr955=) c.3378T>C (p.Thr1126=) c.3096T>C (p.Thr1032=) c.3240T>C (p.Thr1080=) c.3237T>C (p.Thr1079=) c.3099T>C (p.Thr1033=) c.2772T>C (p.Thr924=) c.2769T>C (p.Thr923=) c.2868T>C (p.Thr956=) c.*2796T>C (n.*2796T>C) c.2106+182205T>C (n.2106+182205T>C) c.518T>C | |
3 | g.184326912T>G | CA2732772 | EIF2B5,EIF4G1 | c.3357T>G (p.Thr1119=) c.3291T>G (p.Thr1097=) c.2704T>G (n.2704T>G) c.2763T>G (p.Thr921=) c.3360T>G (p.Thr1120=) c.2865T>G (p.Thr955=) c.3378T>G (p.Thr1126=) c.3096T>G (p.Thr1032=) c.3240T>G (p.Thr1080=) c.3237T>G (p.Thr1079=) c.3099T>G (p.Thr1033=) c.2772T>G (p.Thr924=) c.2769T>G (p.Thr923=) c.2868T>G (p.Thr956=) c.*2796T>G (n.*2796T>G) c.2106+182205T>G (n.2106+182205T>G) c.518T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184326912T= | CA1425957782 | EIF2B5,EIF4G1 | c.3357T= (p.Thr1119=) c.3291T= (p.Thr1097=) c.2704T= (n.2704T=) c.2763T= (p.Thr921=) c.3360T= (p.Thr1120=) c.2865T= (p.Thr955=) c.3378T= (p.Thr1126=) c.3096T= (p.Thr1032=) c.3240T= (p.Thr1080=) c.3237T= (p.Thr1079=) c.3099T= (p.Thr1033=) c.2772T= (p.Thr924=) c.2769T= (p.Thr923=) c.2868T= (p.Thr956=) c.*2796T= (n.*2796T=) c.2106+182205T= (n.2106+182205T=) c.518T= | |
3 | g.184326913T>A | CA355413166 | EIF2B5,EIF4G1 | c.3358T>A (p.Leu1120Met) c.3292T>A (p.Leu1098Met) c.2705T>A (n.2705T>A) c.2764T>A (p.Leu922Met) c.3361T>A (p.Leu1121Met) c.2866T>A (p.Leu956Met) c.3379T>A (p.Leu1127Met) c.3097T>A (p.Leu1033Met) c.3241T>A (p.Leu1081Met) c.3238T>A (p.Leu1080Met) c.3100T>A (p.Leu1034Met) c.2773T>A (p.Leu925Met) c.2770T>A (p.Leu924Met) c.2869T>A (p.Leu957Met) c.*2797T>A (n.*2797T>A) c.2106+182206T>A (n.2106+182206T>A) c.519T>A | |
3 | g.184326913T>C | CA437162097 | EIF2B5,EIF4G1 | c.3358T>C (p.Leu1120=) c.3292T>C (p.Leu1098=) c.2705T>C (n.2705T>C) c.2764T>C (p.Leu922=) c.3361T>C (p.Leu1121=) c.2866T>C (p.Leu956=) c.3379T>C (p.Leu1127=) c.3097T>C (p.Leu1033=) c.3241T>C (p.Leu1081=) c.3238T>C (p.Leu1080=) c.3100T>C (p.Leu1034=) c.2773T>C (p.Leu925=) c.2770T>C (p.Leu924=) c.2869T>C (p.Leu957=) c.*2797T>C (n.*2797T>C) c.2106+182206T>C (n.2106+182206T>C) c.519T>C | dbSNP |
3 | g.184326913T>G | CA355413169 | EIF2B5,EIF4G1 | c.3358T>G (p.Leu1120Val) c.3292T>G (p.Leu1098Val) c.2705T>G (n.2705T>G) c.2764T>G (p.Leu922Val) c.3361T>G (p.Leu1121Val) c.2866T>G (p.Leu956Val) c.3379T>G (p.Leu1127Val) c.3097T>G (p.Leu1033Val) c.3241T>G (p.Leu1081Val) c.3238T>G (p.Leu1080Val) c.3100T>G (p.Leu1034Val) c.2773T>G (p.Leu925Val) c.2770T>G (p.Leu924Val) c.2869T>G (p.Leu957Val) c.*2797T>G (n.*2797T>G) c.2106+182206T>G (n.2106+182206T>G) c.519T>G | |
3 | g.184326913T= | CA1425957784 | EIF2B5,EIF4G1 | c.3358T= (p.Leu1120=) c.3292T= (p.Leu1098=) c.2705T= (n.2705T=) c.2764T= (p.Leu922=) c.3361T= (p.Leu1121=) c.2866T= (p.Leu956=) c.3379T= (p.Leu1127=) c.3097T= (p.Leu1033=) c.3241T= (p.Leu1081=) c.3238T= (p.Leu1080=) c.3100T= (p.Leu1034=) c.2773T= (p.Leu925=) c.2770T= (p.Leu924=) c.2869T= (p.Leu957=) c.*2797T= (n.*2797T=) c.2106+182206T= (n.2106+182206T=) c.519T= | |
3 | g.184326914T>A | CA355413175 | EIF2B5,EIF4G1 | c.3359T>A (p.Leu1120Ter) c.3293T>A (p.Leu1098Ter) c.2706T>A (n.2706T>A) c.2765T>A (p.Leu922Ter) c.3362T>A (p.Leu1121Ter) c.2867T>A (p.Leu956Ter) c.3380T>A (p.Leu1127Ter) c.3098T>A (p.Leu1033Ter) c.3242T>A (p.Leu1081Ter) c.3239T>A (p.Leu1080Ter) c.3101T>A (p.Leu1034Ter) c.2774T>A (p.Leu925Ter) c.2771T>A (p.Leu924Ter) c.2870T>A (p.Leu957Ter) c.*2798T>A (n.*2798T>A) c.2106+182207T>A (n.2106+182207T>A) c.520T>A | |
3 | g.184326914T>C | CA355413181 | EIF2B5,EIF4G1 | c.3359T>C (p.Leu1120Ser) c.3293T>C (p.Leu1098Ser) c.2706T>C (n.2706T>C) c.2765T>C (p.Leu922Ser) c.3362T>C (p.Leu1121Ser) c.2867T>C (p.Leu956Ser) c.3380T>C (p.Leu1127Ser) c.3098T>C (p.Leu1033Ser) c.3242T>C (p.Leu1081Ser) c.3239T>C (p.Leu1080Ser) c.3101T>C (p.Leu1034Ser) c.2774T>C (p.Leu925Ser) c.2771T>C (p.Leu924Ser) c.2870T>C (p.Leu957Ser) c.*2798T>C (n.*2798T>C) c.2106+182207T>C (n.2106+182207T>C) c.520T>C | |
3 | g.184326914T>G | CA2732773 | EIF2B5,EIF4G1 | c.3359T>G (p.Leu1120Trp) c.3293T>G (p.Leu1098Trp) c.2706T>G (n.2706T>G) c.2765T>G (p.Leu922Trp) c.3362T>G (p.Leu1121Trp) c.2867T>G (p.Leu956Trp) c.3380T>G (p.Leu1127Trp) c.3098T>G (p.Leu1033Trp) c.3242T>G (p.Leu1081Trp) c.3239T>G (p.Leu1080Trp) c.3101T>G (p.Leu1034Trp) c.2774T>G (p.Leu925Trp) c.2771T>G (p.Leu924Trp) c.2870T>G (p.Leu957Trp) c.*2798T>G (n.*2798T>G) c.2106+182207T>G (n.2106+182207T>G) c.520T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184326914T= | CA1425957786 | EIF2B5,EIF4G1 | c.3359T= (p.Leu1120=) c.3293T= (p.Leu1098=) c.2706T= (n.2706T=) c.2765T= (p.Leu922=) c.3362T= (p.Leu1121=) c.2867T= (p.Leu956=) c.3380T= (p.Leu1127=) c.3098T= (p.Leu1033=) c.3242T= (p.Leu1081=) c.3239T= (p.Leu1080=) c.3101T= (p.Leu1034=) c.2774T= (p.Leu925=) c.2771T= (p.Leu924=) c.2870T= (p.Leu957=) c.*2798T= (n.*2798T=) c.2106+182207T= (n.2106+182207T=) c.520T= | |
3 | g.184326915G>A | CA437162099 | EIF2B5,EIF4G1 | c.3360G>A (p.Leu1120=) c.3294G>A (p.Leu1098=) c.2707G>A (n.2707G>A) c.2766G>A (p.Leu922=) c.3363G>A (p.Leu1121=) c.2868G>A (p.Leu956=) c.3381G>A (p.Leu1127=) c.3099G>A (p.Leu1033=) c.3243G>A (p.Leu1081=) c.3240G>A (p.Leu1080=) c.3102G>A (p.Leu1034=) c.2775G>A (p.Leu925=) c.2772G>A (p.Leu924=) c.2871G>A (p.Leu957=) c.*2799G>A (n.*2799G>A) c.2106+182208G>A (n.2106+182208G>A) c.521G>A | |
3 | g.184326915G>C | CA355413184 | EIF2B5,EIF4G1 | c.3360G>C (p.Leu1120Phe) c.3294G>C (p.Leu1098Phe) c.2707G>C (n.2707G>C) c.2766G>C (p.Leu922Phe) c.3363G>C (p.Leu1121Phe) c.2868G>C (p.Leu956Phe) c.3381G>C (p.Leu1127Phe) c.3099G>C (p.Leu1033Phe) c.3243G>C (p.Leu1081Phe) c.3240G>C (p.Leu1080Phe) c.3102G>C (p.Leu1034Phe) c.2775G>C (p.Leu925Phe) c.2772G>C (p.Leu924Phe) c.2871G>C (p.Leu957Phe) c.*2799G>C (n.*2799G>C) c.2106+182208G>C (n.2106+182208G>C) c.521G>C | |
3 | g.184326915G>T | CA355413187 | EIF2B5,EIF4G1 | c.3360G>T (p.Leu1120Phe) c.3294G>T (p.Leu1098Phe) c.2707G>T (n.2707G>T) c.2766G>T (p.Leu922Phe) c.3363G>T (p.Leu1121Phe) c.2868G>T (p.Leu956Phe) c.3381G>T (p.Leu1127Phe) c.3099G>T (p.Leu1033Phe) c.3243G>T (p.Leu1081Phe) c.3240G>T (p.Leu1080Phe) c.3102G>T (p.Leu1034Phe) c.2775G>T (p.Leu925Phe) c.2772G>T (p.Leu924Phe) c.2871G>T (p.Leu957Phe) c.*2799G>T (n.*2799G>T) c.2106+182208G>T (n.2106+182208G>T) c.521G>T | |
3 | g.184326916A>C | CA355413191 | EIF2B5,EIF4G1 | c.3361A>C (p.Asn1121His) c.3295A>C (p.Asn1099His) c.2708A>C (n.2708A>C) c.2767A>C (p.Asn923His) c.3364A>C (p.Asn1122His) c.2869A>C (p.Asn957His) c.3382A>C (p.Asn1128His) c.3100A>C (p.Asn1034His) c.3244A>C (p.Asn1082His) c.3241A>C (p.Asn1081His) c.3103A>C (p.Asn1035His) c.2776A>C (p.Asn926His) c.2773A>C (p.Asn925His) c.2872A>C (p.Asn958His) c.*2800A>C (n.*2800A>C) c.2106+182209A>C (n.2106+182209A>C) c.522A>C | |
3 | g.184326916A>G | CA355413192 | EIF2B5,EIF4G1 | c.3361A>G (p.Asn1121Asp) c.3295A>G (p.Asn1099Asp) c.2708A>G (n.2708A>G) c.2767A>G (p.Asn923Asp) c.3364A>G (p.Asn1122Asp) c.2869A>G (p.Asn957Asp) c.3382A>G (p.Asn1128Asp) c.3100A>G (p.Asn1034Asp) c.3244A>G (p.Asn1082Asp) c.3241A>G (p.Asn1081Asp) c.3103A>G (p.Asn1035Asp) c.2776A>G (p.Asn926Asp) c.2773A>G (p.Asn925Asp) c.2872A>G (p.Asn958Asp) c.*2800A>G (n.*2800A>G) c.2106+182209A>G (n.2106+182209A>G) c.522A>G | |
3 | g.184326916A>T | CA355413193 | EIF2B5,EIF4G1 | c.3361A>T (p.Asn1121Tyr) c.3295A>T (p.Asn1099Tyr) c.2708A>T (n.2708A>T) c.2767A>T (p.Asn923Tyr) c.3364A>T (p.Asn1122Tyr) c.2869A>T (p.Asn957Tyr) c.3382A>T (p.Asn1128Tyr) c.3100A>T (p.Asn1034Tyr) c.3244A>T (p.Asn1082Tyr) c.3241A>T (p.Asn1081Tyr) c.3103A>T (p.Asn1035Tyr) c.2776A>T (p.Asn926Tyr) c.2773A>T (p.Asn925Tyr) c.2872A>T (p.Asn958Tyr) c.*2800A>T (n.*2800A>T) c.2106+182209A>T (n.2106+182209A>T) c.522A>T | |
3 | g.184326917A>C | CA355413196 | EIF2B5,EIF4G1 | c.3362A>C (p.Asn1121Thr) c.3296A>C (p.Asn1099Thr) c.2709A>C (n.2709A>C) c.2768A>C (p.Asn923Thr) c.3365A>C (p.Asn1122Thr) c.2870A>C (p.Asn957Thr) c.3383A>C (p.Asn1128Thr) c.3101A>C (p.Asn1034Thr) c.3245A>C (p.Asn1082Thr) c.3242A>C (p.Asn1081Thr) c.3104A>C (p.Asn1035Thr) c.2777A>C (p.Asn926Thr) c.2774A>C (p.Asn925Thr) c.2873A>C (p.Asn958Thr) c.*2801A>C (n.*2801A>C) c.2106+182210A>C (n.2106+182210A>C) c.523A>C | |
3 | g.184326917A>G | CA355413198 | EIF2B5,EIF4G1 | c.3362A>G (p.Asn1121Ser) c.3296A>G (p.Asn1099Ser) c.2709A>G (n.2709A>G) c.2768A>G (p.Asn923Ser) c.3365A>G (p.Asn1122Ser) c.2870A>G (p.Asn957Ser) c.3383A>G (p.Asn1128Ser) c.3101A>G (p.Asn1034Ser) c.3245A>G (p.Asn1082Ser) c.3242A>G (p.Asn1081Ser) c.3104A>G (p.Asn1035Ser) c.2777A>G (p.Asn926Ser) c.2774A>G (p.Asn925Ser) c.2873A>G (p.Asn958Ser) c.*2801A>G (n.*2801A>G) c.2106+182210A>G (n.2106+182210A>G) c.523A>G | |
3 | g.184326917A>T | CA355413201 | EIF2B5,EIF4G1 | c.3362A>T (p.Asn1121Ile) c.3296A>T (p.Asn1099Ile) c.2709A>T (n.2709A>T) c.2768A>T (p.Asn923Ile) c.3365A>T (p.Asn1122Ile) c.2870A>T (p.Asn957Ile) c.3383A>T (p.Asn1128Ile) c.3101A>T (p.Asn1034Ile) c.3245A>T (p.Asn1082Ile) c.3242A>T (p.Asn1081Ile) c.3104A>T (p.Asn1035Ile) c.2777A>T (p.Asn926Ile) c.2774A>T (p.Asn925Ile) c.2873A>T (p.Asn958Ile) c.*2801A>T (n.*2801A>T) c.2106+182210A>T (n.2106+182210A>T) c.523A>T | |
3 | g.184326918T>A | CA355413205 | EIF2B5,EIF4G1 | c.3363T>A (p.Asn1121Lys) c.3297T>A (p.Asn1099Lys) c.2710T>A (n.2710T>A) c.2769T>A (p.Asn923Lys) c.3366T>A (p.Asn1122Lys) c.2871T>A (p.Asn957Lys) c.3384T>A (p.Asn1128Lys) c.3102T>A (p.Asn1034Lys) c.3246T>A (p.Asn1082Lys) c.3243T>A (p.Asn1081Lys) c.3105T>A (p.Asn1035Lys) c.2778T>A (p.Asn926Lys) c.2775T>A (p.Asn925Lys) c.2874T>A (p.Asn958Lys) c.*2802T>A (n.*2802T>A) c.2106+182211T>A (n.2106+182211T>A) c.524T>A | |
3 | g.184326918T>C | CA437162100 | EIF2B5,EIF4G1 | c.3363T>C (p.Asn1121=) c.3297T>C (p.Asn1099=) c.2710T>C (n.2710T>C) c.2769T>C (p.Asn923=) c.3366T>C (p.Asn1122=) c.2871T>C (p.Asn957=) c.3384T>C (p.Asn1128=) c.3102T>C (p.Asn1034=) c.3246T>C (p.Asn1082=) c.3243T>C (p.Asn1081=) c.3105T>C (p.Asn1035=) c.2778T>C (p.Asn926=) c.2775T>C (p.Asn925=) c.2874T>C (p.Asn958=) c.*2802T>C (n.*2802T>C) c.2106+182211T>C (n.2106+182211T>C) c.524T>C | |
3 | g.184326918T>G | CA355413208 | EIF2B5,EIF4G1 | c.3363T>G (p.Asn1121Lys) c.3297T>G (p.Asn1099Lys) c.2710T>G (n.2710T>G) c.2769T>G (p.Asn923Lys) c.3366T>G (p.Asn1122Lys) c.2871T>G (p.Asn957Lys) c.3384T>G (p.Asn1128Lys) c.3102T>G (p.Asn1034Lys) c.3246T>G (p.Asn1082Lys) c.3243T>G (p.Asn1081Lys) c.3105T>G (p.Asn1035Lys) c.2778T>G (p.Asn926Lys) c.2775T>G (p.Asn925Lys) c.2874T>G (p.Asn958Lys) c.*2802T>G (n.*2802T>G) c.2106+182211T>G (n.2106+182211T>G) c.524T>G | |
3 | g.184326919C>A | CA355413214 | EIF2B5,EIF4G1 | c.3364C>A (p.Arg1122Ser) c.3298C>A (p.Arg1100Ser) c.2711C>A (n.2711C>A) c.2770C>A (p.Arg924Ser) c.3367C>A (p.Arg1123Ser) c.2872C>A (p.Arg958Ser) c.3385C>A (p.Arg1129Ser) c.3103C>A (p.Arg1035Ser) c.3247C>A (p.Arg1083Ser) c.3244C>A (p.Arg1082Ser) c.3106C>A (p.Arg1036Ser) c.2779C>A (p.Arg927Ser) c.2776C>A (p.Arg926Ser) c.2875C>A (p.Arg959Ser) c.*2803C>A (n.*2803C>A) c.2106+182212C>A (n.2106+182212C>A) c.525C>A | |
3 | g.184326919C= | CA1425957789 | EIF2B5,EIF4G1 | c.3364C= (p.Arg1122=) c.3298C= (p.Arg1100=) c.2711C= (n.2711C=) c.2770C= (p.Arg924=) c.3367C= (p.Arg1123=) c.2872C= (p.Arg958=) c.3385C= (p.Arg1129=) c.3103C= (p.Arg1035=) c.3247C= (p.Arg1083=) c.3244C= (p.Arg1082=) c.3106C= (p.Arg1036=) c.2779C= (p.Arg927=) c.2776C= (p.Arg926=) c.2875C= (p.Arg959=) c.*2803C= (n.*2803C=) c.2106+182212C= (n.2106+182212C=) c.525C= | |
3 | g.184326919C>G | CA355413216 | EIF2B5,EIF4G1 | c.3364C>G (p.Arg1122Gly) c.3298C>G (p.Arg1100Gly) c.2711C>G (n.2711C>G) c.2770C>G (p.Arg924Gly) c.3367C>G (p.Arg1123Gly) c.2872C>G (p.Arg958Gly) c.3385C>G (p.Arg1129Gly) c.3103C>G (p.Arg1035Gly) c.3247C>G (p.Arg1083Gly) c.3244C>G (p.Arg1082Gly) c.3106C>G (p.Arg1036Gly) c.2779C>G (p.Arg927Gly) c.2776C>G (p.Arg926Gly) c.2875C>G (p.Arg959Gly) c.*2803C>G (n.*2803C>G) c.2106+182212C>G (n.2106+182212C>G) c.525C>G | |
3 | g.184326919C>T | CA355413219 | EIF2B5,EIF4G1 | c.3364C>T (p.Arg1122Cys) c.3298C>T (p.Arg1100Cys) c.2711C>T (n.2711C>T) c.2770C>T (p.Arg924Cys) c.3367C>T (p.Arg1123Cys) c.2872C>T (p.Arg958Cys) c.3385C>T (p.Arg1129Cys) c.3103C>T (p.Arg1035Cys) c.3247C>T (p.Arg1083Cys) c.3244C>T (p.Arg1082Cys) c.3106C>T (p.Arg1036Cys) c.2779C>T (p.Arg927Cys) c.2776C>T (p.Arg926Cys) c.2875C>T (p.Arg959Cys) c.*2803C>T (n.*2803C>T) c.2106+182212C>T (n.2106+182212C>T) c.525C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184326920G>A | CA355413226 | EIF2B5,EIF4G1 | c.3365G>A (p.Arg1122His) c.3299G>A (p.Arg1100His) c.2712G>A (n.2712G>A) c.2771G>A (p.Arg924His) c.3368G>A (p.Arg1123His) c.2873G>A (p.Arg958His) c.3386G>A (p.Arg1129His) c.3104G>A (p.Arg1035His) c.3248G>A (p.Arg1083His) c.3245G>A (p.Arg1082His) c.3107G>A (p.Arg1036His) c.2780G>A (p.Arg927His) c.2777G>A (p.Arg926His) c.2876G>A (p.Arg959His) c.*2804G>A (n.*2804G>A) c.2106+182213G>A (n.2106+182213G>A) c.526G>A | gnomAD v4 |
3 | g.184326920G>C | CA355413227 | EIF2B5,EIF4G1 | c.3365G>C (p.Arg1122Pro) c.3299G>C (p.Arg1100Pro) c.2712G>C (n.2712G>C) c.2771G>C (p.Arg924Pro) c.3368G>C (p.Arg1123Pro) c.2873G>C (p.Arg958Pro) c.3386G>C (p.Arg1129Pro) c.3104G>C (p.Arg1035Pro) c.3248G>C (p.Arg1083Pro) c.3245G>C (p.Arg1082Pro) c.3107G>C (p.Arg1036Pro) c.2780G>C (p.Arg927Pro) c.2777G>C (p.Arg926Pro) c.2876G>C (p.Arg959Pro) c.*2804G>C (n.*2804G>C) c.2106+182213G>C (n.2106+182213G>C) c.526G>C | |
3 | g.184326920G>T | CA355413223 | EIF2B5,EIF4G1 | c.3365G>T (p.Arg1122Leu) c.3299G>T (p.Arg1100Leu) c.2712G>T (n.2712G>T) c.2771G>T (p.Arg924Leu) c.3368G>T (p.Arg1123Leu) c.2873G>T (p.Arg958Leu) c.3386G>T (p.Arg1129Leu) c.3104G>T (p.Arg1035Leu) c.3248G>T (p.Arg1083Leu) c.3245G>T (p.Arg1082Leu) c.3107G>T (p.Arg1036Leu) c.2780G>T (p.Arg927Leu) c.2777G>T (p.Arg926Leu) c.2876G>T (p.Arg959Leu) c.*2804G>T (n.*2804G>T) c.2106+182213G>T (n.2106+182213G>T) c.526G>T | |
3 | g.184326921C>A | CA437162101 | EIF2B5,EIF4G1 | c.3366C>A (p.Arg1122=) c.3300C>A (p.Arg1100=) c.2713C>A (n.2713C>A) c.2772C>A (p.Arg924=) c.3369C>A (p.Arg1123=) c.2874C>A (p.Arg958=) c.3387C>A (p.Arg1129=) c.3105C>A (p.Arg1035=) c.3249C>A (p.Arg1083=) c.3246C>A (p.Arg1082=) c.3108C>A (p.Arg1036=) c.2781C>A (p.Arg927=) c.2778C>A (p.Arg926=) c.2877C>A (p.Arg959=) c.*2805C>A (n.*2805C>A) c.2106+182214C>A (n.2106+182214C>A) c.527C>A | |
3 | g.184326921C>G | CA437162102 | EIF2B5,EIF4G1 | c.3366C>G (p.Arg1122=) c.3300C>G (p.Arg1100=) c.2713C>G (n.2713C>G) c.2772C>G (p.Arg924=) c.3369C>G (p.Arg1123=) c.2874C>G (p.Arg958=) c.3387C>G (p.Arg1129=) c.3105C>G (p.Arg1035=) c.3249C>G (p.Arg1083=) c.3246C>G (p.Arg1082=) c.3108C>G (p.Arg1036=) c.2781C>G (p.Arg927=) c.2778C>G (p.Arg926=) c.2877C>G (p.Arg959=) c.*2805C>G (n.*2805C>G) c.2106+182214C>G (n.2106+182214C>G) c.527C>G | |
3 | g.184326921C>T | CA437162103 | EIF2B5,EIF4G1 | c.3366C>T (p.Arg1122=) c.3300C>T (p.Arg1100=) c.2713C>T (n.2713C>T) c.2772C>T (p.Arg924=) c.3369C>T (p.Arg1123=) c.2874C>T (p.Arg958=) c.3387C>T (p.Arg1129=) c.3105C>T (p.Arg1035=) c.3249C>T (p.Arg1083=) c.3246C>T (p.Arg1082=) c.3108C>T (p.Arg1036=) c.2781C>T (p.Arg927=) c.2778C>T (p.Arg926=) c.2877C>T (p.Arg959=) c.*2805C>T (n.*2805C>T) c.2106+182214C>T (n.2106+182214C>T) c.527C>T | |
3 | g.184326922T>A | CA355413236 | EIF2B5,EIF4G1 | c.3367T>A (p.Phe1123Ile) c.3301T>A (p.Phe1101Ile) c.2714T>A (n.2714T>A) c.2773T>A (p.Phe925Ile) c.3370T>A (p.Phe1124Ile) c.2875T>A (p.Phe959Ile) c.3388T>A (p.Phe1130Ile) c.3106T>A (p.Phe1036Ile) c.3250T>A (p.Phe1084Ile) c.3247T>A (p.Phe1083Ile) c.3109T>A (p.Phe1037Ile) c.2782T>A (p.Phe928Ile) c.2779T>A (p.Phe927Ile) c.2878T>A (p.Phe960Ile) c.*2806T>A (n.*2806T>A) c.2106+182215T>A (n.2106+182215T>A) c.528T>A | |
3 | g.184326922T>C | CA355413230 | EIF2B5,EIF4G1 | c.3367T>C (p.Phe1123Leu) c.3301T>C (p.Phe1101Leu) c.2714T>C (n.2714T>C) c.2773T>C (p.Phe925Leu) c.3370T>C (p.Phe1124Leu) c.2875T>C (p.Phe959Leu) c.3388T>C (p.Phe1130Leu) c.3106T>C (p.Phe1036Leu) c.3250T>C (p.Phe1084Leu) c.3247T>C (p.Phe1083Leu) c.3109T>C (p.Phe1037Leu) c.2782T>C (p.Phe928Leu) c.2779T>C (p.Phe927Leu) c.2878T>C (p.Phe960Leu) c.*2806T>C (n.*2806T>C) c.2106+182215T>C (n.2106+182215T>C) c.528T>C | gnomAD v4 |
3 | g.184326922T>G | CA355413238 | EIF2B5,EIF4G1 | c.3367T>G (p.Phe1123Val) c.3301T>G (p.Phe1101Val) c.2714T>G (n.2714T>G) c.2773T>G (p.Phe925Val) c.3370T>G (p.Phe1124Val) c.2875T>G (p.Phe959Val) c.3388T>G (p.Phe1130Val) c.3106T>G (p.Phe1036Val) c.3250T>G (p.Phe1084Val) c.3247T>G (p.Phe1083Val) c.3109T>G (p.Phe1037Val) c.2782T>G (p.Phe928Val) c.2779T>G (p.Phe927Val) c.2878T>G (p.Phe960Val) c.*2806T>G (n.*2806T>G) c.2106+182215T>G (n.2106+182215T>G) c.528T>G | |
3 | g.184326923T>A | CA355413244 | EIF2B5,EIF4G1 | c.3368T>A (p.Phe1123Tyr) c.3302T>A (p.Phe1101Tyr) c.2715T>A (n.2715T>A) c.2774T>A (p.Phe925Tyr) c.3371T>A (p.Phe1124Tyr) c.2876T>A (p.Phe959Tyr) c.3389T>A (p.Phe1130Tyr) c.3107T>A (p.Phe1036Tyr) c.3251T>A (p.Phe1084Tyr) c.3248T>A (p.Phe1083Tyr) c.3110T>A (p.Phe1037Tyr) c.2783T>A (p.Phe928Tyr) c.2780T>A (p.Phe927Tyr) c.2879T>A (p.Phe960Tyr) c.*2807T>A (n.*2807T>A) c.2106+182216T>A (n.2106+182216T>A) c.529T>A | |
3 | g.184326923T>C | CA355413247 | EIF2B5,EIF4G1 | c.3368T>C (p.Phe1123Ser) c.3302T>C (p.Phe1101Ser) c.2715T>C (n.2715T>C) c.2774T>C (p.Phe925Ser) c.3371T>C (p.Phe1124Ser) c.2876T>C (p.Phe959Ser) c.3389T>C (p.Phe1130Ser) c.3107T>C (p.Phe1036Ser) c.3251T>C (p.Phe1084Ser) c.3248T>C (p.Phe1083Ser) c.3110T>C (p.Phe1037Ser) c.2783T>C (p.Phe928Ser) c.2780T>C (p.Phe927Ser) c.2879T>C (p.Phe960Ser) c.*2807T>C (n.*2807T>C) c.2106+182216T>C (n.2106+182216T>C) c.529T>C | |
3 | g.184326923T>G | CA355413250 | EIF2B5,EIF4G1 | c.3368T>G (p.Phe1123Cys) c.3302T>G (p.Phe1101Cys) c.2715T>G (n.2715T>G) c.2774T>G (p.Phe925Cys) c.3371T>G (p.Phe1124Cys) c.2876T>G (p.Phe959Cys) c.3389T>G (p.Phe1130Cys) c.3107T>G (p.Phe1036Cys) c.3251T>G (p.Phe1084Cys) c.3248T>G (p.Phe1083Cys) c.3110T>G (p.Phe1037Cys) c.2783T>G (p.Phe928Cys) c.2780T>G (p.Phe927Cys) c.2879T>G (p.Phe960Cys) c.*2807T>G (n.*2807T>G) c.2106+182216T>G (n.2106+182216T>G) c.529T>G | |
3 | g.184326924C>A | CA355413254 | EIF2B5,EIF4G1 | c.3369C>A (p.Phe1123Leu) c.3303C>A (p.Phe1101Leu) c.2716C>A (n.2716C>A) c.2775C>A (p.Phe925Leu) c.3372C>A (p.Phe1124Leu) c.2877C>A (p.Phe959Leu) c.3390C>A (p.Phe1130Leu) c.3108C>A (p.Phe1036Leu) c.3252C>A (p.Phe1084Leu) c.3249C>A (p.Phe1083Leu) c.3111C>A (p.Phe1037Leu) c.2784C>A (p.Phe928Leu) c.2781C>A (p.Phe927Leu) c.2880C>A (p.Phe960Leu) c.*2808C>A (n.*2808C>A) c.2106+182217C>A (n.2106+182217C>A) c.530C>A | |
3 | g.184326924C>G | CA355413256 | EIF2B5,EIF4G1 | c.3369C>G (p.Phe1123Leu) c.3303C>G (p.Phe1101Leu) c.2716C>G (n.2716C>G) c.2775C>G (p.Phe925Leu) c.3372C>G (p.Phe1124Leu) c.2877C>G (p.Phe959Leu) c.3390C>G (p.Phe1130Leu) c.3108C>G (p.Phe1036Leu) c.3252C>G (p.Phe1084Leu) c.3249C>G (p.Phe1083Leu) c.3111C>G (p.Phe1037Leu) c.2784C>G (p.Phe928Leu) c.2781C>G (p.Phe927Leu) c.2880C>G (p.Phe960Leu) c.*2808C>G (n.*2808C>G) c.2106+182217C>G (n.2106+182217C>G) c.530C>G | |
3 | g.184326924C>T | CA437162104 | EIF2B5,EIF4G1 | c.3369C>T (p.Phe1123=) c.3303C>T (p.Phe1101=) c.2716C>T (n.2716C>T) c.2775C>T (p.Phe925=) c.3372C>T (p.Phe1124=) c.2877C>T (p.Phe959=) c.3390C>T (p.Phe1130=) c.3108C>T (p.Phe1036=) c.3252C>T (p.Phe1084=) c.3249C>T (p.Phe1083=) c.3111C>T (p.Phe1037=) c.2784C>T (p.Phe928=) c.2781C>T (p.Phe927=) c.2880C>T (p.Phe960=) c.*2808C>T (n.*2808C>T) c.2106+182217C>T (n.2106+182217C>T) c.530C>T | |
3 | g.184326925T>A | CA355413261 | EIF2B5,EIF4G1 | c.3370T>A (p.Ser1124Thr) c.3304T>A (p.Ser1102Thr) c.2717T>A (n.2717T>A) c.2776T>A (p.Ser926Thr) c.3373T>A (p.Ser1125Thr) c.2878T>A (p.Ser960Thr) c.3391T>A (p.Ser1131Thr) c.3109T>A (p.Ser1037Thr) c.3253T>A (p.Ser1085Thr) c.3250T>A (p.Ser1084Thr) c.3112T>A (p.Ser1038Thr) c.2785T>A (p.Ser929Thr) c.2782T>A (p.Ser928Thr) c.2881T>A (p.Ser961Thr) c.*2809T>A (n.*2809T>A) c.2106+182218T>A (n.2106+182218T>A) c.531T>A | |
3 | g.184326925T>C | CA355413262 | EIF2B5,EIF4G1 | c.3370T>C (p.Ser1124Pro) c.3304T>C (p.Ser1102Pro) c.2717T>C (n.2717T>C) c.2776T>C (p.Ser926Pro) c.3373T>C (p.Ser1125Pro) c.2878T>C (p.Ser960Pro) c.3391T>C (p.Ser1131Pro) c.3109T>C (p.Ser1037Pro) c.3253T>C (p.Ser1085Pro) c.3250T>C (p.Ser1084Pro) c.3112T>C (p.Ser1038Pro) c.2785T>C (p.Ser929Pro) c.2782T>C (p.Ser928Pro) c.2881T>C (p.Ser961Pro) c.*2809T>C (n.*2809T>C) c.2106+182218T>C (n.2106+182218T>C) c.531T>C | |
3 | g.184326925T>G | CA355413265 | EIF2B5,EIF4G1 | c.3370T>G (p.Ser1124Ala) c.3304T>G (p.Ser1102Ala) c.2717T>G (n.2717T>G) c.2776T>G (p.Ser926Ala) c.3373T>G (p.Ser1125Ala) c.2878T>G (p.Ser960Ala) c.3391T>G (p.Ser1131Ala) c.3109T>G (p.Ser1037Ala) c.3253T>G (p.Ser1085Ala) c.3250T>G (p.Ser1084Ala) c.3112T>G (p.Ser1038Ala) c.2785T>G (p.Ser929Ala) c.2782T>G (p.Ser928Ala) c.2881T>G (p.Ser961Ala) c.*2809T>G (n.*2809T>G) c.2106+182218T>G (n.2106+182218T>G) c.531T>G | |
3 | g.184326926C>A | CA355413270 | EIF2B5,EIF4G1 | c.3371C>A (p.Ser1124Ter) c.3305C>A (p.Ser1102Ter) c.2718C>A (n.2718C>A) c.2777C>A (p.Ser926Ter) c.3374C>A (p.Ser1125Ter) c.2879C>A (p.Ser960Ter) c.3392C>A (p.Ser1131Ter) c.3110C>A (p.Ser1037Ter) c.3254C>A (p.Ser1085Ter) c.3251C>A (p.Ser1084Ter) c.3113C>A (p.Ser1038Ter) c.2786C>A (p.Ser929Ter) c.2783C>A (p.Ser928Ter) c.2882C>A (p.Ser961Ter) c.*2810C>A (n.*2810C>A) c.2106+182219C>A (n.2106+182219C>A) c.532C>A | |
3 | g.184326926C= | CA1425957791 | EIF2B5,EIF4G1 | c.3371C= (p.Ser1124=) c.3305C= (p.Ser1102=) c.2718C= (n.2718C=) c.2777C= (p.Ser926=) c.3374C= (p.Ser1125=) c.2879C= (p.Ser960=) c.3392C= (p.Ser1131=) c.3110C= (p.Ser1037=) c.3254C= (p.Ser1085=) c.3251C= (p.Ser1084=) c.3113C= (p.Ser1038=) c.2786C= (p.Ser929=) c.2783C= (p.Ser928=) c.2882C= (p.Ser961=) c.*2810C= (n.*2810C=) c.2106+182219C= (n.2106+182219C=) c.532C= | |
3 | g.184326926C>G | CA355413273 | EIF2B5,EIF4G1 | c.3371C>G (p.Ser1124Ter) c.3305C>G (p.Ser1102Ter) c.2718C>G (n.2718C>G) c.2777C>G (p.Ser926Ter) c.3374C>G (p.Ser1125Ter) c.2879C>G (p.Ser960Ter) c.3392C>G (p.Ser1131Ter) c.3110C>G (p.Ser1037Ter) c.3254C>G (p.Ser1085Ter) c.3251C>G (p.Ser1084Ter) c.3113C>G (p.Ser1038Ter) c.2786C>G (p.Ser929Ter) c.2783C>G (p.Ser928Ter) c.2882C>G (p.Ser961Ter) c.*2810C>G (n.*2810C>G) c.2106+182219C>G (n.2106+182219C>G) c.532C>G | COSMIC |
3 | g.184326926C>T | CA355413274 | EIF2B5,EIF4G1 | c.3371C>T (p.Ser1124Leu) c.3305C>T (p.Ser1102Leu) c.2718C>T (n.2718C>T) c.2777C>T (p.Ser926Leu) c.3374C>T (p.Ser1125Leu) c.2879C>T (p.Ser960Leu) c.3392C>T (p.Ser1131Leu) c.3110C>T (p.Ser1037Leu) c.3254C>T (p.Ser1085Leu) c.3251C>T (p.Ser1084Leu) c.3113C>T (p.Ser1038Leu) c.2786C>T (p.Ser929Leu) c.2783C>T (p.Ser928Leu) c.2882C>T (p.Ser961Leu) c.*2810C>T (n.*2810C>T) c.2106+182219C>T (n.2106+182219C>T) c.532C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184326927A>C | CA437162105 | EIF2B5,EIF4G1 | c.3372A>C (p.Ser1124=) c.3306A>C (p.Ser1102=) c.2719A>C (n.2719A>C) c.2778A>C (p.Ser926=) c.3375A>C (p.Ser1125=) c.2880A>C (p.Ser960=) c.3393A>C (p.Ser1131=) c.3111A>C (p.Ser1037=) c.3255A>C (p.Ser1085=) c.3252A>C (p.Ser1084=) c.3114A>C (p.Ser1038=) c.2787A>C (p.Ser929=) c.2784A>C (p.Ser928=) c.2883A>C (p.Ser961=) c.*2811A>C (n.*2811A>C) c.2106+182220A>C (n.2106+182220A>C) c.533A>C | gnomAD v4 |
3 | g.184326927A>G | CA437162106 | EIF2B5,EIF4G1 | c.3372A>G (p.Ser1124=) c.3306A>G (p.Ser1102=) c.2719A>G (n.2719A>G) c.2778A>G (p.Ser926=) c.3375A>G (p.Ser1125=) c.2880A>G (p.Ser960=) c.3393A>G (p.Ser1131=) c.3111A>G (p.Ser1037=) c.3255A>G (p.Ser1085=) c.3252A>G (p.Ser1084=) c.3114A>G (p.Ser1038=) c.2787A>G (p.Ser929=) c.2784A>G (p.Ser928=) c.2883A>G (p.Ser961=) c.*2811A>G (n.*2811A>G) c.2106+182220A>G (n.2106+182220A>G) c.533A>G | |
3 | g.184326927A>T | CA437162107 | EIF2B5,EIF4G1 | c.3372A>T (p.Ser1124=) c.3306A>T (p.Ser1102=) c.2719A>T (n.2719A>T) c.2778A>T (p.Ser926=) c.3375A>T (p.Ser1125=) c.2880A>T (p.Ser960=) c.3393A>T (p.Ser1131=) c.3111A>T (p.Ser1037=) c.3255A>T (p.Ser1085=) c.3252A>T (p.Ser1084=) c.3114A>T (p.Ser1038=) c.2787A>T (p.Ser929=) c.2784A>T (p.Ser928=) c.2883A>T (p.Ser961=) c.*2811A>T (n.*2811A>T) c.2106+182220A>T (n.2106+182220A>T) c.533A>T | |
3 | g.184326928G>A | CA355413277 | EIF2B5,EIF4G1 | c.3373G>A (p.Ala1125Thr) c.3307G>A (p.Ala1103Thr) c.2720G>A (n.2720G>A) c.2779G>A (p.Ala927Thr) c.3376G>A (p.Ala1126Thr) c.2881G>A (p.Ala961Thr) c.3394G>A (p.Ala1132Thr) c.3112G>A (p.Ala1038Thr) c.3256G>A (p.Ala1086Thr) c.3253G>A (p.Ala1085Thr) c.3115G>A (p.Ala1039Thr) c.2788G>A (p.Ala930Thr) c.2785G>A (p.Ala929Thr) c.2884G>A (p.Ala962Thr) c.*2812G>A (n.*2812G>A) c.2106+182221G>A (n.2106+182221G>A) c.534G>A | |
3 | g.184326928G>C | CA355413276 | EIF2B5,EIF4G1 | c.3373G>C (p.Ala1125Pro) c.3307G>C (p.Ala1103Pro) c.2720G>C (n.2720G>C) c.2779G>C (p.Ala927Pro) c.3376G>C (p.Ala1126Pro) c.2881G>C (p.Ala961Pro) c.3394G>C (p.Ala1132Pro) c.3112G>C (p.Ala1038Pro) c.3256G>C (p.Ala1086Pro) c.3253G>C (p.Ala1085Pro) c.3115G>C (p.Ala1039Pro) c.2788G>C (p.Ala930Pro) c.2785G>C (p.Ala929Pro) c.2884G>C (p.Ala962Pro) c.*2812G>C (n.*2812G>C) c.2106+182221G>C (n.2106+182221G>C) c.534G>C | |
3 | g.184326928G>T | CA355413275 | EIF2B5,EIF4G1 | c.3373G>T (p.Ala1125Ser) c.3307G>T (p.Ala1103Ser) c.2720G>T (n.2720G>T) c.2779G>T (p.Ala927Ser) c.3376G>T (p.Ala1126Ser) c.2881G>T (p.Ala961Ser) c.3394G>T (p.Ala1132Ser) c.3112G>T (p.Ala1038Ser) c.3256G>T (p.Ala1086Ser) c.3253G>T (p.Ala1085Ser) c.3115G>T (p.Ala1039Ser) c.2788G>T (p.Ala930Ser) c.2785G>T (p.Ala929Ser) c.2884G>T (p.Ala962Ser) c.*2812G>T (n.*2812G>T) c.2106+182221G>T (n.2106+182221G>T) c.534G>T | COSMIC |
3 | g.184326929C>A | CA355413279 | EIF2B5,EIF4G1 | c.3374C>A (p.Ala1125Asp) c.3308C>A (p.Ala1103Asp) c.2721C>A (n.2721C>A) c.2780C>A (p.Ala927Asp) c.3377C>A (p.Ala1126Asp) c.2882C>A (p.Ala961Asp) c.3395C>A (p.Ala1132Asp) c.3113C>A (p.Ala1038Asp) c.3257C>A (p.Ala1086Asp) c.3254C>A (p.Ala1085Asp) c.3116C>A (p.Ala1039Asp) c.2789C>A (p.Ala930Asp) c.2786C>A (p.Ala929Asp) c.2885C>A (p.Ala962Asp) c.*2813C>A (n.*2813C>A) c.2106+182222C>A (n.2106+182222C>A) c.535C>A | |
3 | g.184326929C>G | CA355413281 | EIF2B5,EIF4G1 | c.3374C>G (p.Ala1125Gly) c.3308C>G (p.Ala1103Gly) c.2721C>G (n.2721C>G) c.2780C>G (p.Ala927Gly) c.3377C>G (p.Ala1126Gly) c.2882C>G (p.Ala961Gly) c.3395C>G (p.Ala1132Gly) c.3113C>G (p.Ala1038Gly) c.3257C>G (p.Ala1086Gly) c.3254C>G (p.Ala1085Gly) c.3116C>G (p.Ala1039Gly) c.2789C>G (p.Ala930Gly) c.2786C>G (p.Ala929Gly) c.2885C>G (p.Ala962Gly) c.*2813C>G (n.*2813C>G) c.2106+182222C>G (n.2106+182222C>G) c.535C>G | |
3 | g.184326929C>T | CA355413283 | EIF2B5,EIF4G1 | c.3374C>T (p.Ala1125Val) c.3308C>T (p.Ala1103Val) c.2721C>T (n.2721C>T) c.2780C>T (p.Ala927Val) c.3377C>T (p.Ala1126Val) c.2882C>T (p.Ala961Val) c.3395C>T (p.Ala1132Val) c.3113C>T (p.Ala1038Val) c.3257C>T (p.Ala1086Val) c.3254C>T (p.Ala1085Val) c.3116C>T (p.Ala1039Val) c.2789C>T (p.Ala930Val) c.2786C>T (p.Ala929Val) c.2885C>T (p.Ala962Val) c.*2813C>T (n.*2813C>T) c.2106+182222C>T (n.2106+182222C>T) c.535C>T | |
3 | g.184326930C>A | CA437162109 | EIF2B5,EIF4G1 | c.3375C>A (p.Ala1125=) c.3309C>A (p.Ala1103=) c.2722C>A (n.2722C>A) c.2781C>A (p.Ala927=) c.3378C>A (p.Ala1126=) c.2883C>A (p.Ala961=) c.3396C>A (p.Ala1132=) c.3114C>A (p.Ala1038=) c.3258C>A (p.Ala1086=) c.3255C>A (p.Ala1085=) c.3117C>A (p.Ala1039=) c.2790C>A (p.Ala930=) c.2787C>A (p.Ala929=) c.2886C>A (p.Ala962=) c.*2814C>A (n.*2814C>A) c.2106+182223C>A (n.2106+182223C>A) c.536C>A | |
3 | g.184326930C>G | CA437162110 | EIF2B5,EIF4G1 | c.3375C>G (p.Ala1125=) c.3309C>G (p.Ala1103=) c.2722C>G (n.2722C>G) c.2781C>G (p.Ala927=) c.3378C>G (p.Ala1126=) c.2883C>G (p.Ala961=) c.3396C>G (p.Ala1132=) c.3114C>G (p.Ala1038=) c.3258C>G (p.Ala1086=) c.3255C>G (p.Ala1085=) c.3117C>G (p.Ala1039=) c.2790C>G (p.Ala930=) c.2787C>G (p.Ala929=) c.2886C>G (p.Ala962=) c.*2814C>G (n.*2814C>G) c.2106+182223C>G (n.2106+182223C>G) c.536C>G | gnomAD v4 |
3 | g.184326930C>T | CA437162111 | EIF2B5,EIF4G1 | c.3375C>T (p.Ala1125=) c.3309C>T (p.Ala1103=) c.2722C>T (n.2722C>T) c.2781C>T (p.Ala927=) c.3378C>T (p.Ala1126=) c.2883C>T (p.Ala961=) c.3396C>T (p.Ala1132=) c.3114C>T (p.Ala1038=) c.3258C>T (p.Ala1086=) c.3255C>T (p.Ala1085=) c.3117C>T (p.Ala1039=) c.2790C>T (p.Ala930=) c.2787C>T (p.Ala929=) c.2886C>T (p.Ala962=) c.*2814C>T (n.*2814C>T) c.2106+182223C>T (n.2106+182223C>T) c.536C>T | gnomAD v4 |
3 | g.184326931C>A | CA355413288 | EIF2B5,EIF4G1 | c.3376C>A (p.Leu1126Ile) c.3310C>A (p.Leu1104Ile) c.2723C>A (n.2723C>A) c.2782C>A (p.Leu928Ile) c.3379C>A (p.Leu1127Ile) c.2884C>A (p.Leu962Ile) c.3397C>A (p.Leu1133Ile) c.3115C>A (p.Leu1039Ile) c.3259C>A (p.Leu1087Ile) c.3256C>A (p.Leu1086Ile) c.3118C>A (p.Leu1040Ile) c.2791C>A (p.Leu931Ile) c.2788C>A (p.Leu930Ile) c.2887C>A (p.Leu963Ile) c.*2815C>A (n.*2815C>A) c.2106+182224C>A (n.2106+182224C>A) c.537C>A | |
3 | g.184326931C>G | CA355413291 | EIF2B5,EIF4G1 | c.3376C>G (p.Leu1126Val) c.3310C>G (p.Leu1104Val) c.2723C>G (n.2723C>G) c.2782C>G (p.Leu928Val) c.3379C>G (p.Leu1127Val) c.2884C>G (p.Leu962Val) c.3397C>G (p.Leu1133Val) c.3115C>G (p.Leu1039Val) c.3259C>G (p.Leu1087Val) c.3256C>G (p.Leu1086Val) c.3118C>G (p.Leu1040Val) c.2791C>G (p.Leu931Val) c.2788C>G (p.Leu930Val) c.2887C>G (p.Leu963Val) c.*2815C>G (n.*2815C>G) c.2106+182224C>G (n.2106+182224C>G) c.537C>G | gnomAD v4 |
3 | g.184326931C>T | CA355413294 | EIF2B5,EIF4G1 | c.3376C>T (p.Leu1126Phe) c.3310C>T (p.Leu1104Phe) c.2723C>T (n.2723C>T) c.2782C>T (p.Leu928Phe) c.3379C>T (p.Leu1127Phe) c.2884C>T (p.Leu962Phe) c.3397C>T (p.Leu1133Phe) c.3115C>T (p.Leu1039Phe) c.3259C>T (p.Leu1087Phe) c.3256C>T (p.Leu1086Phe) c.3118C>T (p.Leu1040Phe) c.2791C>T (p.Leu931Phe) c.2788C>T (p.Leu930Phe) c.2887C>T (p.Leu963Phe) c.*2815C>T (n.*2815C>T) c.2106+182224C>T (n.2106+182224C>T) c.537C>T | |
3 | g.184326932T>A | CA355413298 | EIF2B5,EIF4G1 | c.3377T>A (p.Leu1126His) c.3311T>A (p.Leu1104His) c.2724T>A (n.2724T>A) c.2783T>A (p.Leu928His) c.3380T>A (p.Leu1127His) c.2885T>A (p.Leu962His) c.3398T>A (p.Leu1133His) c.3116T>A (p.Leu1039His) c.3260T>A (p.Leu1087His) c.3257T>A (p.Leu1086His) c.3119T>A (p.Leu1040His) c.2792T>A (p.Leu931His) c.2789T>A (p.Leu930His) c.2888T>A (p.Leu963His) c.*2816T>A (n.*2816T>A) c.2106+182225T>A (n.2106+182225T>A) c.538T>A | |
3 | g.184326932T>C | CA355413300 | EIF2B5,EIF4G1 | c.3377T>C (p.Leu1126Pro) c.3311T>C (p.Leu1104Pro) c.2724T>C (n.2724T>C) c.2783T>C (p.Leu928Pro) c.3380T>C (p.Leu1127Pro) c.2885T>C (p.Leu962Pro) c.3398T>C (p.Leu1133Pro) c.3116T>C (p.Leu1039Pro) c.3260T>C (p.Leu1087Pro) c.3257T>C (p.Leu1086Pro) c.3119T>C (p.Leu1040Pro) c.2792T>C (p.Leu931Pro) c.2789T>C (p.Leu930Pro) c.2888T>C (p.Leu963Pro) c.*2816T>C (n.*2816T>C) c.2106+182225T>C (n.2106+182225T>C) c.538T>C | |
3 | g.184326932T>G | CA355413303 | EIF2B5,EIF4G1 | c.3377T>G (p.Leu1126Arg) c.3311T>G (p.Leu1104Arg) c.2724T>G (n.2724T>G) c.2783T>G (p.Leu928Arg) c.3380T>G (p.Leu1127Arg) c.2885T>G (p.Leu962Arg) c.3398T>G (p.Leu1133Arg) c.3116T>G (p.Leu1039Arg) c.3260T>G (p.Leu1087Arg) c.3257T>G (p.Leu1086Arg) c.3119T>G (p.Leu1040Arg) c.2792T>G (p.Leu931Arg) c.2789T>G (p.Leu930Arg) c.2888T>G (p.Leu963Arg) c.*2816T>G (n.*2816T>G) c.2106+182225T>G (n.2106+182225T>G) c.538T>G | |
3 | g.184326933T>A | CA437162112 | EIF2B5,EIF4G1 | c.3378T>A (p.Leu1126=) c.3312T>A (p.Leu1104=) c.2725T>A (n.2725T>A) c.2784T>A (p.Leu928=) c.3381T>A (p.Leu1127=) c.2886T>A (p.Leu962=) c.3399T>A (p.Leu1133=) c.3117T>A (p.Leu1039=) c.3261T>A (p.Leu1087=) c.3258T>A (p.Leu1086=) c.3120T>A (p.Leu1040=) c.2793T>A (p.Leu931=) c.2790T>A (p.Leu930=) c.2889T>A (p.Leu963=) c.*2817T>A (n.*2817T>A) c.2106+182226T>A (n.2106+182226T>A) c.539T>A | |
3 | g.184326933T>C | CA437162114 | EIF2B5,EIF4G1 | c.3378T>C (p.Leu1126=) c.3312T>C (p.Leu1104=) c.2725T>C (n.2725T>C) c.2784T>C (p.Leu928=) c.3381T>C (p.Leu1127=) c.2886T>C (p.Leu962=) c.3399T>C (p.Leu1133=) c.3117T>C (p.Leu1039=) c.3261T>C (p.Leu1087=) c.3258T>C (p.Leu1086=) c.3120T>C (p.Leu1040=) c.2793T>C (p.Leu931=) c.2790T>C (p.Leu930=) c.2889T>C (p.Leu963=) c.*2817T>C (n.*2817T>C) c.2106+182226T>C (n.2106+182226T>C) c.539T>C | gnomAD v4 |
3 | g.184326933T>G | CA437162115 | EIF2B5,EIF4G1 | c.3378T>G (p.Leu1126=) c.3312T>G (p.Leu1104=) c.2725T>G (n.2725T>G) c.2784T>G (p.Leu928=) c.3381T>G (p.Leu1127=) c.2886T>G (p.Leu962=) c.3399T>G (p.Leu1133=) c.3117T>G (p.Leu1039=) c.3261T>G (p.Leu1087=) c.3258T>G (p.Leu1086=) c.3120T>G (p.Leu1040=) c.2793T>G (p.Leu931=) c.2790T>G (p.Leu930=) c.2889T>G (p.Leu963=) c.*2817T>G (n.*2817T>G) c.2106+182226T>G (n.2106+182226T>G) c.539T>G | |
3 | g.184326934C>A | CA355413309 | EIF2B5,EIF4G1 | c.3379C>A (p.Gln1127Lys) c.3313C>A (p.Gln1105Lys) c.2726C>A (n.2726C>A) c.2785C>A (p.Gln929Lys) c.3382C>A (p.Gln1128Lys) c.2887C>A (p.Gln963Lys) c.3400C>A (p.Gln1134Lys) c.3118C>A (p.Gln1040Lys) c.3262C>A (p.Gln1088Lys) c.3259C>A (p.Gln1087Lys) c.3121C>A (p.Gln1041Lys) c.2794C>A (p.Gln932Lys) c.2791C>A (p.Gln931Lys) c.2890C>A (p.Gln964Lys) c.*2818C>A (n.*2818C>A) c.2106+182227C>A (n.2106+182227C>A) c.540C>A | |
3 | g.184326934C>G | CA355413313 | EIF2B5,EIF4G1 | c.3379C>G (p.Gln1127Glu) c.3313C>G (p.Gln1105Glu) c.2726C>G (n.2726C>G) c.2785C>G (p.Gln929Glu) c.3382C>G (p.Gln1128Glu) c.2887C>G (p.Gln963Glu) c.3400C>G (p.Gln1134Glu) c.3118C>G (p.Gln1040Glu) c.3262C>G (p.Gln1088Glu) c.3259C>G (p.Gln1087Glu) c.3121C>G (p.Gln1041Glu) c.2794C>G (p.Gln932Glu) c.2791C>G (p.Gln931Glu) c.2890C>G (p.Gln964Glu) c.*2818C>G (n.*2818C>G) c.2106+182227C>G (n.2106+182227C>G) c.540C>G | gnomAD v4 |
3 | g.184326934C>T | CA355413316 | EIF2B5,EIF4G1 | c.3379C>T (p.Gln1127Ter) c.3313C>T (p.Gln1105Ter) c.2726C>T (n.2726C>T) c.2785C>T (p.Gln929Ter) c.3382C>T (p.Gln1128Ter) c.2887C>T (p.Gln963Ter) c.3400C>T (p.Gln1134Ter) c.3118C>T (p.Gln1040Ter) c.3262C>T (p.Gln1088Ter) c.3259C>T (p.Gln1087Ter) c.3121C>T (p.Gln1041Ter) c.2794C>T (p.Gln932Ter) c.2791C>T (p.Gln931Ter) c.2890C>T (p.Gln964Ter) c.*2818C>T (n.*2818C>T) c.2106+182227C>T (n.2106+182227C>T) c.540C>T | |
3 | g.184326935A>C | CA355413325 | EIF2B5,EIF4G1 | c.3380A>C (p.Gln1127Pro) c.3314A>C (p.Gln1105Pro) c.2727A>C (n.2727A>C) c.2786A>C (p.Gln929Pro) c.3383A>C (p.Gln1128Pro) c.2888A>C (p.Gln963Pro) c.3401A>C (p.Gln1134Pro) c.3119A>C (p.Gln1040Pro) c.3263A>C (p.Gln1088Pro) c.3260A>C (p.Gln1087Pro) c.3122A>C (p.Gln1041Pro) c.2795A>C (p.Gln932Pro) c.2792A>C (p.Gln931Pro) c.2891A>C (p.Gln964Pro) c.*2819A>C (n.*2819A>C) c.2106+182228A>C (n.2106+182228A>C) c.541A>C | gnomAD v4 |
3 | g.184326935A>G | CA355413326 | EIF2B5,EIF4G1 | c.3380A>G (p.Gln1127Arg) c.3314A>G (p.Gln1105Arg) c.2727A>G (n.2727A>G) c.2786A>G (p.Gln929Arg) c.3383A>G (p.Gln1128Arg) c.2888A>G (p.Gln963Arg) c.3401A>G (p.Gln1134Arg) c.3119A>G (p.Gln1040Arg) c.3263A>G (p.Gln1088Arg) c.3260A>G (p.Gln1087Arg) c.3122A>G (p.Gln1041Arg) c.2795A>G (p.Gln932Arg) c.2792A>G (p.Gln931Arg) c.2891A>G (p.Gln964Arg) c.*2819A>G (n.*2819A>G) c.2106+182228A>G (n.2106+182228A>G) c.541A>G | |
3 | g.184326935A>T | CA355413321 | EIF2B5,EIF4G1 | c.3380A>T (p.Gln1127Leu) c.3314A>T (p.Gln1105Leu) c.2727A>T (n.2727A>T) c.2786A>T (p.Gln929Leu) c.3383A>T (p.Gln1128Leu) c.2888A>T (p.Gln963Leu) c.3401A>T (p.Gln1134Leu) c.3119A>T (p.Gln1040Leu) c.3263A>T (p.Gln1088Leu) c.3260A>T (p.Gln1087Leu) c.3122A>T (p.Gln1041Leu) c.2795A>T (p.Gln932Leu) c.2792A>T (p.Gln931Leu) c.2891A>T (p.Gln964Leu) c.*2819A>T (n.*2819A>T) c.2106+182228A>T (n.2106+182228A>T) c.541A>T | |
3 | g.184326936A= | CA1425957795 | EIF2B5,EIF4G1 | c.3381A= (p.Gln1127=) c.3315A= (p.Gln1105=) c.2728A= (n.2728A=) c.2787A= (p.Gln929=) c.3384A= (p.Gln1128=) c.2889A= (p.Gln963=) c.3402A= (p.Gln1134=) c.3120A= (p.Gln1040=) c.3264A= (p.Gln1088=) c.3261A= (p.Gln1087=) c.3123A= (p.Gln1041=) c.2796A= (p.Gln932=) c.2793A= (p.Gln931=) c.2892A= (p.Gln964=) c.*2820A= (n.*2820A=) c.2106+182229A= (n.2106+182229A=) c.542A= | |
3 | g.184326936A>C | CA355413331 | EIF2B5,EIF4G1 | c.3381A>C (p.Gln1127His) c.3315A>C (p.Gln1105His) c.2728A>C (n.2728A>C) c.2787A>C (p.Gln929His) c.3384A>C (p.Gln1128His) c.2889A>C (p.Gln963His) c.3402A>C (p.Gln1134His) c.3120A>C (p.Gln1040His) c.3264A>C (p.Gln1088His) c.3261A>C (p.Gln1087His) c.3123A>C (p.Gln1041His) c.2796A>C (p.Gln932His) c.2793A>C (p.Gln931His) c.2892A>C (p.Gln964His) c.*2820A>C (n.*2820A>C) c.2106+182229A>C (n.2106+182229A>C) c.542A>C | |
3 | g.184326936A>G | CA437162118 | EIF2B5,EIF4G1 | c.3381A>G (p.Gln1127=) c.3315A>G (p.Gln1105=) c.2728A>G (n.2728A>G) c.2787A>G (p.Gln929=) c.3384A>G (p.Gln1128=) c.2889A>G (p.Gln963=) c.3402A>G (p.Gln1134=) c.3120A>G (p.Gln1040=) c.3264A>G (p.Gln1088=) c.3261A>G (p.Gln1087=) c.3123A>G (p.Gln1041=) c.2796A>G (p.Gln932=) c.2793A>G (p.Gln931=) c.2892A>G (p.Gln964=) c.*2820A>G (n.*2820A>G) c.2106+182229A>G (n.2106+182229A>G) c.542A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184326936A>T | CA355413333 | EIF2B5,EIF4G1 | c.3381A>T (p.Gln1127His) c.3315A>T (p.Gln1105His) c.2728A>T (n.2728A>T) c.2787A>T (p.Gln929His) c.3384A>T (p.Gln1128His) c.2889A>T (p.Gln963His) c.3402A>T (p.Gln1134His) c.3120A>T (p.Gln1040His) c.3264A>T (p.Gln1088His) c.3261A>T (p.Gln1087His) c.3123A>T (p.Gln1041His) c.2796A>T (p.Gln932His) c.2793A>T (p.Gln931His) c.2892A>T (p.Gln964His) c.*2820A>T (n.*2820A>T) c.2106+182229A>T (n.2106+182229A>T) c.542A>T | |
3 | g.184326937C>A | CA355413337 | EIF2B5,EIF4G1 | c.3382C>A (p.Gln1128Lys) c.3316C>A (p.Gln1106Lys) c.2729C>A (n.2729C>A) c.2788C>A (p.Gln930Lys) c.3385C>A (p.Gln1129Lys) c.2890C>A (p.Gln964Lys) c.3403C>A (p.Gln1135Lys) c.3121C>A (p.Gln1041Lys) c.3265C>A (p.Gln1089Lys) c.3262C>A (p.Gln1088Lys) c.3124C>A (p.Gln1042Lys) c.2797C>A (p.Gln933Lys) c.2794C>A (p.Gln932Lys) c.2893C>A (p.Gln965Lys) c.*2821C>A (n.*2821C>A) c.2106+182230C>A (n.2106+182230C>A) c.543C>A | |
3 | g.184326937C>G | CA355413340 | EIF2B5,EIF4G1 | c.3382C>G (p.Gln1128Glu) c.3316C>G (p.Gln1106Glu) c.2729C>G (n.2729C>G) c.2788C>G (p.Gln930Glu) c.3385C>G (p.Gln1129Glu) c.2890C>G (p.Gln964Glu) c.3403C>G (p.Gln1135Glu) c.3121C>G (p.Gln1041Glu) c.3265C>G (p.Gln1089Glu) c.3262C>G (p.Gln1088Glu) c.3124C>G (p.Gln1042Glu) c.2797C>G (p.Gln933Glu) c.2794C>G (p.Gln932Glu) c.2893C>G (p.Gln965Glu) c.*2821C>G (n.*2821C>G) c.2106+182230C>G (n.2106+182230C>G) c.543C>G | |
3 | g.184326937C>T | CA355413344 | EIF2B5,EIF4G1 | c.3382C>T (p.Gln1128Ter) c.3316C>T (p.Gln1106Ter) c.2729C>T (n.2729C>T) c.2788C>T (p.Gln930Ter) c.3385C>T (p.Gln1129Ter) c.2890C>T (p.Gln964Ter) c.3403C>T (p.Gln1135Ter) c.3121C>T (p.Gln1041Ter) c.3265C>T (p.Gln1089Ter) c.3262C>T (p.Gln1088Ter) c.3124C>T (p.Gln1042Ter) c.2797C>T (p.Gln933Ter) c.2794C>T (p.Gln932Ter) c.2893C>T (p.Gln965Ter) c.*2821C>T (n.*2821C>T) c.2106+182230C>T (n.2106+182230C>T) c.543C>T |