Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.184327180T>GCA88867384EIF2B5,EIF4G1c.3429-36T>G (n.3429-36T>G)
c.3363-36T>G (n.3363-36T>G)
c.2776-36T>G (n.2776-36T>G)
c.2835-36T>G (n.2835-36T>G)
c.3432-36T>G (n.3432-36T>G)
c.2937-36T>G (n.2937-36T>G)
c.3450-36T>G (n.3450-36T>G)
c.3168-36T>G (n.3168-36T>G)
c.3312-36T>G (n.3312-36T>G)
c.3309-36T>G (n.3309-36T>G)
c.3171-36T>G (n.3171-36T>G)
c.2844-36T>G (n.2844-36T>G)
c.2841-36T>G (n.2841-36T>G)
c.2940-36T>G (n.2940-36T>G)
c.*2868-36T>G (n.*2868-36T>G)
c.2106+182473T>G (n.2106+182473T>G)
c.590-36T>G
 dbSNP gnomAD v3 gnomAD v4
3g.184327180T=CA1425958063EIF2B5,EIF4G1c.3429-36T= (n.3429-36T=)
c.3363-36T= (n.3363-36T=)
c.2776-36T= (n.2776-36T=)
c.2835-36T= (n.2835-36T=)
c.3432-36T= (n.3432-36T=)
c.2937-36T= (n.2937-36T=)
c.3450-36T= (n.3450-36T=)
c.3168-36T= (n.3168-36T=)
c.3312-36T= (n.3312-36T=)
c.3309-36T= (n.3309-36T=)
c.3171-36T= (n.3171-36T=)
c.2844-36T= (n.2844-36T=)
c.2841-36T= (n.2841-36T=)
c.2940-36T= (n.2940-36T=)
c.*2868-36T= (n.*2868-36T=)
c.2106+182473T= (n.2106+182473T=)
c.590-36T=
3g.184327181G>ACA88867390EIF2B5,EIF4G1c.3429-35G>A (n.3429-35G>A)
c.3363-35G>A (n.3363-35G>A)
c.2776-35G>A (n.2776-35G>A)
c.2835-35G>A (n.2835-35G>A)
c.3432-35G>A (n.3432-35G>A)
c.2937-35G>A (n.2937-35G>A)
c.3450-35G>A (n.3450-35G>A)
c.3168-35G>A (n.3168-35G>A)
c.3312-35G>A (n.3312-35G>A)
c.3309-35G>A (n.3309-35G>A)
c.3171-35G>A (n.3171-35G>A)
c.2844-35G>A (n.2844-35G>A)
c.2841-35G>A (n.2841-35G>A)
c.2940-35G>A (n.2940-35G>A)
c.*2868-35G>A (n.*2868-35G>A)
c.2106+182474G>A (n.2106+182474G>A)
c.590-35G>A
 dbSNP
3g.184327181G=CA1425958065EIF2B5,EIF4G1c.3429-35G= (n.3429-35G=)
c.3363-35G= (n.3363-35G=)
c.2776-35G= (n.2776-35G=)
c.2835-35G= (n.2835-35G=)
c.3432-35G= (n.3432-35G=)
c.2937-35G= (n.2937-35G=)
c.3450-35G= (n.3450-35G=)
c.3168-35G= (n.3168-35G=)
c.3312-35G= (n.3312-35G=)
c.3309-35G= (n.3309-35G=)
c.3171-35G= (n.3171-35G=)
c.2844-35G= (n.2844-35G=)
c.2841-35G= (n.2841-35G=)
c.2940-35G= (n.2940-35G=)
c.*2868-35G= (n.*2868-35G=)
c.2106+182474G= (n.2106+182474G=)
c.590-35G=
3g.184327182C>GCA2668840167EIF2B5,EIF4G1c.3429-34C>G (n.3429-34C>G)
c.3363-34C>G (n.3363-34C>G)
c.2776-34C>G (n.2776-34C>G)
c.2835-34C>G (n.2835-34C>G)
c.3432-34C>G (n.3432-34C>G)
c.2937-34C>G (n.2937-34C>G)
c.3450-34C>G (n.3450-34C>G)
c.3168-34C>G (n.3168-34C>G)
c.3312-34C>G (n.3312-34C>G)
c.3309-34C>G (n.3309-34C>G)
c.3171-34C>G (n.3171-34C>G)
c.2844-34C>G (n.2844-34C>G)
c.2841-34C>G (n.2841-34C>G)
c.2940-34C>G (n.2940-34C>G)
c.*2868-34C>G (n.*2868-34C>G)
c.2106+182475C>G (n.2106+182475C>G)
c.590-34C>G
 gnomAD v4
3g.184327185G>ACA548795598EIF2B5,EIF4G1c.3429-31G>A (n.3429-31G>A)
c.3363-31G>A (n.3363-31G>A)
c.2776-31G>A (n.2776-31G>A)
c.2835-31G>A (n.2835-31G>A)
c.3432-31G>A (n.3432-31G>A)
c.2937-31G>A (n.2937-31G>A)
c.3450-31G>A (n.3450-31G>A)
c.3168-31G>A (n.3168-31G>A)
c.3312-31G>A (n.3312-31G>A)
c.3309-31G>A (n.3309-31G>A)
c.3171-31G>A (n.3171-31G>A)
c.2844-31G>A (n.2844-31G>A)
c.2841-31G>A (n.2841-31G>A)
c.2940-31G>A (n.2940-31G>A)
c.*2868-31G>A (n.*2868-31G>A)
c.2106+182478G>A (n.2106+182478G>A)
c.590-31G>A
 dbSNP gnomAD v2 gnomAD v4
3g.184327185G=CA1425958067EIF2B5,EIF4G1c.3429-31G= (n.3429-31G=)
c.3363-31G= (n.3363-31G=)
c.2776-31G= (n.2776-31G=)
c.2835-31G= (n.2835-31G=)
c.3432-31G= (n.3432-31G=)
c.2937-31G= (n.2937-31G=)
c.3450-31G= (n.3450-31G=)
c.3168-31G= (n.3168-31G=)
c.3312-31G= (n.3312-31G=)
c.3309-31G= (n.3309-31G=)
c.3171-31G= (n.3171-31G=)
c.2844-31G= (n.2844-31G=)
c.2841-31G= (n.2841-31G=)
c.2940-31G= (n.2940-31G=)
c.*2868-31G= (n.*2868-31G=)
c.2106+182478G= (n.2106+182478G=)
c.590-31G=
3g.184327186T>CCA2668840168EIF2B5,EIF4G1c.3429-30T>C (n.3429-30T>C)
c.3363-30T>C (n.3363-30T>C)
c.2776-30T>C (n.2776-30T>C)
c.2835-30T>C (n.2835-30T>C)
c.3432-30T>C (n.3432-30T>C)
c.2937-30T>C (n.2937-30T>C)
c.3450-30T>C (n.3450-30T>C)
c.3168-30T>C (n.3168-30T>C)
c.3312-30T>C (n.3312-30T>C)
c.3309-30T>C (n.3309-30T>C)
c.3171-30T>C (n.3171-30T>C)
c.2844-30T>C (n.2844-30T>C)
c.2841-30T>C (n.2841-30T>C)
c.2940-30T>C (n.2940-30T>C)
c.*2868-30T>C (n.*2868-30T>C)
c.2106+182479T>C (n.2106+182479T>C)
c.590-30T>C
 gnomAD v4
3g.184327187G>ACA1057223666EIF2B5,EIF4G1c.3429-29G>A (n.3429-29G>A)
c.3363-29G>A (n.3363-29G>A)
c.2776-29G>A (n.2776-29G>A)
c.2835-29G>A (n.2835-29G>A)
c.3432-29G>A (n.3432-29G>A)
c.2937-29G>A (n.2937-29G>A)
c.3450-29G>A (n.3450-29G>A)
c.3168-29G>A (n.3168-29G>A)
c.3312-29G>A (n.3312-29G>A)
c.3309-29G>A (n.3309-29G>A)
c.3171-29G>A (n.3171-29G>A)
c.2844-29G>A (n.2844-29G>A)
c.2841-29G>A (n.2841-29G>A)
c.2940-29G>A (n.2940-29G>A)
c.*2868-29G>A (n.*2868-29G>A)
c.2106+182480G>A (n.2106+182480G>A)
c.590-29G>A
 dbSNP gnomAD v3 gnomAD v4
3g.184327187G=CA1425958069EIF2B5,EIF4G1c.3429-29G= (n.3429-29G=)
c.3363-29G= (n.3363-29G=)
c.2776-29G= (n.2776-29G=)
c.2835-29G= (n.2835-29G=)
c.3432-29G= (n.3432-29G=)
c.2937-29G= (n.2937-29G=)
c.3450-29G= (n.3450-29G=)
c.3168-29G= (n.3168-29G=)
c.3312-29G= (n.3312-29G=)
c.3309-29G= (n.3309-29G=)
c.3171-29G= (n.3171-29G=)
c.2844-29G= (n.2844-29G=)
c.2841-29G= (n.2841-29G=)
c.2940-29G= (n.2940-29G=)
c.*2868-29G= (n.*2868-29G=)
c.2106+182480G= (n.2106+182480G=)
c.590-29G=
3g.184327189G>TCA2668840171EIF2B5,EIF4G1c.3429-27G>T (n.3429-27G>T)
c.3363-27G>T (n.3363-27G>T)
c.2776-27G>T (n.2776-27G>T)
c.2835-27G>T (n.2835-27G>T)
c.3432-27G>T (n.3432-27G>T)
c.2937-27G>T (n.2937-27G>T)
c.3450-27G>T (n.3450-27G>T)
c.3168-27G>T (n.3168-27G>T)
c.3312-27G>T (n.3312-27G>T)
c.3309-27G>T (n.3309-27G>T)
c.3171-27G>T (n.3171-27G>T)
c.2844-27G>T (n.2844-27G>T)
c.2841-27G>T (n.2841-27G>T)
c.2940-27G>T (n.2940-27G>T)
c.*2868-27G>T (n.*2868-27G>T)
c.2106+182482G>T (n.2106+182482G>T)
c.590-27G>T
 gnomAD v4
3g.184327190_184327191delCA2668840169EIF2B5,EIF4G1c.3429-26_3429-25del (n.3429-26_3429-25del)
c.3363-26_3363-25del (n.3363-26_3363-25del)
c.2776-26_2776-25del (n.2776-26_2776-25del)
c.2835-26_2835-25del (n.2835-26_2835-25del)
c.3432-26_3432-25del (n.3432-26_3432-25del)
c.2937-26_2937-25del (n.2937-26_2937-25del)
c.3450-26_3450-25del (n.3450-26_3450-25del)
c.3168-26_3168-25del (n.3168-26_3168-25del)
c.3312-26_3312-25del (n.3312-26_3312-25del)
c.3309-26_3309-25del (n.3309-26_3309-25del)
c.3171-26_3171-25del (n.3171-26_3171-25del)
c.2844-26_2844-25del (n.2844-26_2844-25del)
c.2841-26_2841-25del (n.2841-26_2841-25del)
c.2940-26_2940-25del (n.2940-26_2940-25del)
c.*2868-26_*2868-25del (n.*2868-26_*2868-25del)
c.2106+182483_2106+182484del (n.2106+182483_2106+182484del)
c.590-26_590-25del
 gnomAD v4
3g.184327190T>ACA1057223667EIF2B5,EIF4G1c.3429-26T>A (n.3429-26T>A)
c.3363-26T>A (n.3363-26T>A)
c.2776-26T>A (n.2776-26T>A)
c.2835-26T>A (n.2835-26T>A)
c.3432-26T>A (n.3432-26T>A)
c.2937-26T>A (n.2937-26T>A)
c.3450-26T>A (n.3450-26T>A)
c.3168-26T>A (n.3168-26T>A)
c.3312-26T>A (n.3312-26T>A)
c.3309-26T>A (n.3309-26T>A)
c.3171-26T>A (n.3171-26T>A)
c.2844-26T>A (n.2844-26T>A)
c.2841-26T>A (n.2841-26T>A)
c.2940-26T>A (n.2940-26T>A)
c.*2868-26T>A (n.*2868-26T>A)
c.2106+182483T>A (n.2106+182483T>A)
c.590-26T>A
 dbSNP gnomAD v3 gnomAD v4
3g.184327190T=CA1425958072EIF2B5,EIF4G1c.3429-26T= (n.3429-26T=)
c.3363-26T= (n.3363-26T=)
c.2776-26T= (n.2776-26T=)
c.2835-26T= (n.2835-26T=)
c.3432-26T= (n.3432-26T=)
c.2937-26T= (n.2937-26T=)
c.3450-26T= (n.3450-26T=)
c.3168-26T= (n.3168-26T=)
c.3312-26T= (n.3312-26T=)
c.3309-26T= (n.3309-26T=)
c.3171-26T= (n.3171-26T=)
c.2844-26T= (n.2844-26T=)
c.2841-26T= (n.2841-26T=)
c.2940-26T= (n.2940-26T=)
c.*2868-26T= (n.*2868-26T=)
c.2106+182483T= (n.2106+182483T=)
c.590-26T=
3g.184327191G>ACA1425958075EIF2B5,EIF4G1c.3429-25G>A (n.3429-25G>A)
c.3363-25G>A (n.3363-25G>A)
c.2776-25G>A (n.2776-25G>A)
c.2835-25G>A (n.2835-25G>A)
c.3432-25G>A (n.3432-25G>A)
c.2937-25G>A (n.2937-25G>A)
c.3450-25G>A (n.3450-25G>A)
c.3168-25G>A (n.3168-25G>A)
c.3312-25G>A (n.3312-25G>A)
c.3309-25G>A (n.3309-25G>A)
c.3171-25G>A (n.3171-25G>A)
c.2844-25G>A (n.2844-25G>A)
c.2841-25G>A (n.2841-25G>A)
c.2940-25G>A (n.2940-25G>A)
c.*2868-25G>A (n.*2868-25G>A)
c.2106+182484G>A (n.2106+182484G>A)
c.590-25G>A
 dbSNP
3g.184327191G=CA1425958074EIF2B5,EIF4G1c.3429-25G= (n.3429-25G=)
c.3363-25G= (n.3363-25G=)
c.2776-25G= (n.2776-25G=)
c.2835-25G= (n.2835-25G=)
c.3432-25G= (n.3432-25G=)
c.2937-25G= (n.2937-25G=)
c.3450-25G= (n.3450-25G=)
c.3168-25G= (n.3168-25G=)
c.3312-25G= (n.3312-25G=)
c.3309-25G= (n.3309-25G=)
c.3171-25G= (n.3171-25G=)
c.2844-25G= (n.2844-25G=)
c.2841-25G= (n.2841-25G=)
c.2940-25G= (n.2940-25G=)
c.*2868-25G= (n.*2868-25G=)
c.2106+182484G= (n.2106+182484G=)
c.590-25G=
3g.184327193A>GCA2759716608EIF2B5,EIF4G1c.3429-23A>G (n.3429-23A>G)
c.3363-23A>G (n.3363-23A>G)
c.2776-23A>G (n.2776-23A>G)
c.2835-23A>G (n.2835-23A>G)
c.3432-23A>G (n.3432-23A>G)
c.2937-23A>G (n.2937-23A>G)
c.3450-23A>G (n.3450-23A>G)
c.3168-23A>G (n.3168-23A>G)
c.3312-23A>G (n.3312-23A>G)
c.3309-23A>G (n.3309-23A>G)
c.3171-23A>G (n.3171-23A>G)
c.2844-23A>G (n.2844-23A>G)
c.2841-23A>G (n.2841-23A>G)
c.2940-23A>G (n.2940-23A>G)
c.*2868-23A>G (n.*2868-23A>G)
c.2106+182486A>G (n.2106+182486A>G)
c.590-23A>G
3g.184327194A=CA1425958076EIF2B5,EIF4G1c.3429-22A= (n.3429-22A=)
c.3363-22A= (n.3363-22A=)
c.2776-22A= (n.2776-22A=)
c.2835-22A= (n.2835-22A=)
c.3432-22A= (n.3432-22A=)
c.2937-22A= (n.2937-22A=)
c.3450-22A= (n.3450-22A=)
c.3168-22A= (n.3168-22A=)
c.3312-22A= (n.3312-22A=)
c.3309-22A= (n.3309-22A=)
c.3171-22A= (n.3171-22A=)
c.2844-22A= (n.2844-22A=)
c.2841-22A= (n.2841-22A=)
c.2940-22A= (n.2940-22A=)
c.*2868-22A= (n.*2868-22A=)
c.2106+182487A= (n.2106+182487A=)
c.590-22A=
3g.184327194A>TCA1425958077EIF2B5,EIF4G1c.3429-22A>T (n.3429-22A>T)
c.3363-22A>T (n.3363-22A>T)
c.2776-22A>T (n.2776-22A>T)
c.2835-22A>T (n.2835-22A>T)
c.3432-22A>T (n.3432-22A>T)
c.2937-22A>T (n.2937-22A>T)
c.3450-22A>T (n.3450-22A>T)
c.3168-22A>T (n.3168-22A>T)
c.3312-22A>T (n.3312-22A>T)
c.3309-22A>T (n.3309-22A>T)
c.3171-22A>T (n.3171-22A>T)
c.2844-22A>T (n.2844-22A>T)
c.2841-22A>T (n.2841-22A>T)
c.2940-22A>T (n.2940-22A>T)
c.*2868-22A>T (n.*2868-22A>T)
c.2106+182487A>T (n.2106+182487A>T)
c.590-22A>T
 dbSNP gnomAD v4
3g.184327195A>CCA2668840172EIF2B5,EIF4G1c.3429-21A>C (n.3429-21A>C)
c.3363-21A>C (n.3363-21A>C)
c.2776-21A>C (n.2776-21A>C)
c.2835-21A>C (n.2835-21A>C)
c.3432-21A>C (n.3432-21A>C)
c.2937-21A>C (n.2937-21A>C)
c.3450-21A>C (n.3450-21A>C)
c.3168-21A>C (n.3168-21A>C)
c.3312-21A>C (n.3312-21A>C)
c.3309-21A>C (n.3309-21A>C)
c.3171-21A>C (n.3171-21A>C)
c.2844-21A>C (n.2844-21A>C)
c.2841-21A>C (n.2841-21A>C)
c.2940-21A>C (n.2940-21A>C)
c.*2868-21A>C (n.*2868-21A>C)
c.2106+182488A>C (n.2106+182488A>C)
c.590-21A>C
 gnomAD v4
3g.184327197T>CCA88867397EIF2B5,EIF4G1c.3429-19T>C (n.3429-19T>C)
c.3363-19T>C (n.3363-19T>C)
c.2776-19T>C (n.2776-19T>C)
c.2835-19T>C (n.2835-19T>C)
c.3432-19T>C (n.3432-19T>C)
c.2937-19T>C (n.2937-19T>C)
c.3450-19T>C (n.3450-19T>C)
c.3168-19T>C (n.3168-19T>C)
c.3312-19T>C (n.3312-19T>C)
c.3309-19T>C (n.3309-19T>C)
c.3171-19T>C (n.3171-19T>C)
c.2844-19T>C (n.2844-19T>C)
c.2841-19T>C (n.2841-19T>C)
c.2940-19T>C (n.2940-19T>C)
c.*2868-19T>C (n.*2868-19T>C)
c.2106+182490T>C (n.2106+182490T>C)
c.590-19T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327197T>GCA2704734096EIF2B5,EIF4G1c.3429-19T>G (n.3429-19T>G)
c.3363-19T>G (n.3363-19T>G)
c.2776-19T>G (n.2776-19T>G)
c.2835-19T>G (n.2835-19T>G)
c.3432-19T>G (n.3432-19T>G)
c.2937-19T>G (n.2937-19T>G)
c.3450-19T>G (n.3450-19T>G)
c.3168-19T>G (n.3168-19T>G)
c.3312-19T>G (n.3312-19T>G)
c.3309-19T>G (n.3309-19T>G)
c.3171-19T>G (n.3171-19T>G)
c.2844-19T>G (n.2844-19T>G)
c.2841-19T>G (n.2841-19T>G)
c.2940-19T>G (n.2940-19T>G)
c.*2868-19T>G (n.*2868-19T>G)
c.2106+182490T>G (n.2106+182490T>G)
c.590-19T>G
 dbSNP
3g.184327197T=CA1425958079EIF2B5,EIF4G1c.3429-19T= (n.3429-19T=)
c.3363-19T= (n.3363-19T=)
c.2776-19T= (n.2776-19T=)
c.2835-19T= (n.2835-19T=)
c.3432-19T= (n.3432-19T=)
c.2937-19T= (n.2937-19T=)
c.3450-19T= (n.3450-19T=)
c.3168-19T= (n.3168-19T=)
c.3312-19T= (n.3312-19T=)
c.3309-19T= (n.3309-19T=)
c.3171-19T= (n.3171-19T=)
c.2844-19T= (n.2844-19T=)
c.2841-19T= (n.2841-19T=)
c.2940-19T= (n.2940-19T=)
c.*2868-19T= (n.*2868-19T=)
c.2106+182490T= (n.2106+182490T=)
c.590-19T=
3g.184327197_184327201delinsTTGTCCA1425958080EIF2B5,EIF4G1c.3429-19_3429-15delinsTTGTC (n.3429-19_3429-15delinsTTGTC)
c.3363-19_3363-15delinsTTGTC (n.3363-19_3363-15delinsTTGTC)
c.2776-19_2776-15delinsTTGTC (n.2776-19_2776-15delinsTTGTC)
c.2835-19_2835-15delinsTTGTC (n.2835-19_2835-15delinsTTGTC)
c.3432-19_3432-15delinsTTGTC (n.3432-19_3432-15delinsTTGTC)
c.2937-19_2937-15delinsTTGTC (n.2937-19_2937-15delinsTTGTC)
c.3450-19_3450-15delinsTTGTC (n.3450-19_3450-15delinsTTGTC)
c.3168-19_3168-15delinsTTGTC (n.3168-19_3168-15delinsTTGTC)
c.3312-19_3312-15delinsTTGTC (n.3312-19_3312-15delinsTTGTC)
c.3309-19_3309-15delinsTTGTC (n.3309-19_3309-15delinsTTGTC)
c.3171-19_3171-15delinsTTGTC (n.3171-19_3171-15delinsTTGTC)
c.2844-19_2844-15delinsTTGTC (n.2844-19_2844-15delinsTTGTC)
c.2841-19_2841-15delinsTTGTC (n.2841-19_2841-15delinsTTGTC)
c.2940-19_2940-15delinsTTGTC (n.2940-19_2940-15delinsTTGTC)
c.*2868-19_*2868-15delinsTTGTC (n.*2868-19_*2868-15delinsTTGTC)
c.2106+182490_2106+182494delinsTTGTC (n.2106+182490_2106+182494delinsTTGTC)
c.590-19_590-15delinsTTGTC
3g.184327198T>ACA548795600EIF2B5,EIF4G1c.3429-18T>A (n.3429-18T>A)
c.3363-18T>A (n.3363-18T>A)
c.2776-18T>A (n.2776-18T>A)
c.2835-18T>A (n.2835-18T>A)
c.3432-18T>A (n.3432-18T>A)
c.2937-18T>A (n.2937-18T>A)
c.3450-18T>A (n.3450-18T>A)
c.3168-18T>A (n.3168-18T>A)
c.3312-18T>A (n.3312-18T>A)
c.3309-18T>A (n.3309-18T>A)
c.3171-18T>A (n.3171-18T>A)
c.2844-18T>A (n.2844-18T>A)
c.2841-18T>A (n.2841-18T>A)
c.2940-18T>A (n.2940-18T>A)
c.*2868-18T>A (n.*2868-18T>A)
c.2106+182491T>A (n.2106+182491T>A)
c.590-18T>A
 dbSNP gnomAD v2 gnomAD v4
3g.184327198T>CCA903714370EIF2B5,EIF4G1c.3429-18T>C (n.3429-18T>C)
c.3363-18T>C (n.3363-18T>C)
c.2776-18T>C (n.2776-18T>C)
c.2835-18T>C (n.2835-18T>C)
c.3432-18T>C (n.3432-18T>C)
c.2937-18T>C (n.2937-18T>C)
c.3450-18T>C (n.3450-18T>C)
c.3168-18T>C (n.3168-18T>C)
c.3312-18T>C (n.3312-18T>C)
c.3309-18T>C (n.3309-18T>C)
c.3171-18T>C (n.3171-18T>C)
c.2844-18T>C (n.2844-18T>C)
c.2841-18T>C (n.2841-18T>C)
c.2940-18T>C (n.2940-18T>C)
c.*2868-18T>C (n.*2868-18T>C)
c.2106+182491T>C (n.2106+182491T>C)
c.590-18T>C
 dbSNP
3g.184327198T=CA1425958082EIF2B5,EIF4G1c.3429-18T= (n.3429-18T=)
c.3363-18T= (n.3363-18T=)
c.2776-18T= (n.2776-18T=)
c.2835-18T= (n.2835-18T=)
c.3432-18T= (n.3432-18T=)
c.2937-18T= (n.2937-18T=)
c.3450-18T= (n.3450-18T=)
c.3168-18T= (n.3168-18T=)
c.3312-18T= (n.3312-18T=)
c.3309-18T= (n.3309-18T=)
c.3171-18T= (n.3171-18T=)
c.2844-18T= (n.2844-18T=)
c.2841-18T= (n.2841-18T=)
c.2940-18T= (n.2940-18T=)
c.*2868-18T= (n.*2868-18T=)
c.2106+182491T= (n.2106+182491T=)
c.590-18T=
3g.184327207_184327210dupCA2668840175EIF2B5,EIF4G1c.3429-9_3429-6dup (n.3429-9_3429-6dup)
c.3363-9_3363-6dup (n.3363-9_3363-6dup)
c.2776-9_2776-6dup (n.2776-9_2776-6dup)
c.2835-9_2835-6dup (n.2835-9_2835-6dup)
c.3432-9_3432-6dup (n.3432-9_3432-6dup)
c.2937-9_2937-6dup (n.2937-9_2937-6dup)
c.3450-9_3450-6dup (n.3450-9_3450-6dup)
c.3168-9_3168-6dup (n.3168-9_3168-6dup)
c.3312-9_3312-6dup (n.3312-9_3312-6dup)
c.3309-9_3309-6dup (n.3309-9_3309-6dup)
c.3171-9_3171-6dup (n.3171-9_3171-6dup)
c.2844-9_2844-6dup (n.2844-9_2844-6dup)
c.2841-9_2841-6dup (n.2841-9_2841-6dup)
c.2940-9_2940-6dup (n.2940-9_2940-6dup)
c.*2868-9_*2868-6dup (n.*2868-9_*2868-6dup)
c.2106+182500_2106+182503dup (n.2106+182500_2106+182503dup)
c.590-9_590-6dup
 gnomAD v4
3g.184327207_184327210delCA548795599EIF2B5,EIF4G1c.3429-9_3429-6del (n.3429-9_3429-6del)
c.3363-9_3363-6del (n.3363-9_3363-6del)
c.2776-9_2776-6del (n.2776-9_2776-6del)
c.2835-9_2835-6del (n.2835-9_2835-6del)
c.3432-9_3432-6del (n.3432-9_3432-6del)
c.2937-9_2937-6del (n.2937-9_2937-6del)
c.3450-9_3450-6del (n.3450-9_3450-6del)
c.3168-9_3168-6del (n.3168-9_3168-6del)
c.3312-9_3312-6del (n.3312-9_3312-6del)
c.3309-9_3309-6del (n.3309-9_3309-6del)
c.3171-9_3171-6del (n.3171-9_3171-6del)
c.2844-9_2844-6del (n.2844-9_2844-6del)
c.2841-9_2841-6del (n.2841-9_2841-6del)
c.2940-9_2940-6del (n.2940-9_2940-6del)
c.*2868-9_*2868-6del (n.*2868-9_*2868-6del)
c.2106+182500_2106+182503del (n.2106+182500_2106+182503del)
c.590-9_590-6del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327199G=CA1425958084EIF2B5,EIF4G1c.3429-17G= (n.3429-17G=)
c.3363-17G= (n.3363-17G=)
c.2776-17G= (n.2776-17G=)
c.2835-17G= (n.2835-17G=)
c.3432-17G= (n.3432-17G=)
c.2937-17G= (n.2937-17G=)
c.3450-17G= (n.3450-17G=)
c.3168-17G= (n.3168-17G=)
c.3312-17G= (n.3312-17G=)
c.3309-17G= (n.3309-17G=)
c.3171-17G= (n.3171-17G=)
c.2844-17G= (n.2844-17G=)
c.2841-17G= (n.2841-17G=)
c.2940-17G= (n.2940-17G=)
c.*2868-17G= (n.*2868-17G=)
c.2106+182492G= (n.2106+182492G=)
c.590-17G=
3g.184327199G>TCA2732801EIF2B5,EIF4G1c.3429-17G>T (n.3429-17G>T)
c.3363-17G>T (n.3363-17G>T)
c.2776-17G>T (n.2776-17G>T)
c.2835-17G>T (n.2835-17G>T)
c.3432-17G>T (n.3432-17G>T)
c.2937-17G>T (n.2937-17G>T)
c.3450-17G>T (n.3450-17G>T)
c.3168-17G>T (n.3168-17G>T)
c.3312-17G>T (n.3312-17G>T)
c.3309-17G>T (n.3309-17G>T)
c.3171-17G>T (n.3171-17G>T)
c.2844-17G>T (n.2844-17G>T)
c.2841-17G>T (n.2841-17G>T)
c.2940-17G>T (n.2940-17G>T)
c.*2868-17G>T (n.*2868-17G>T)
c.2106+182492G>T (n.2106+182492G>T)
c.590-17G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327201C=CA1425958086EIF2B5,EIF4G1c.3429-15C= (n.3429-15C=)
c.3363-15C= (n.3363-15C=)
c.2776-15C= (n.2776-15C=)
c.2835-15C= (n.2835-15C=)
c.3432-15C= (n.3432-15C=)
c.2937-15C= (n.2937-15C=)
c.3450-15C= (n.3450-15C=)
c.3168-15C= (n.3168-15C=)
c.3312-15C= (n.3312-15C=)
c.3309-15C= (n.3309-15C=)
c.3171-15C= (n.3171-15C=)
c.2844-15C= (n.2844-15C=)
c.2841-15C= (n.2841-15C=)
c.2940-15C= (n.2940-15C=)
c.*2868-15C= (n.*2868-15C=)
c.2106+182494C= (n.2106+182494C=)
c.590-15C=
3g.184327201C>TCA2732802EIF2B5,EIF4G1c.3429-15C>T (n.3429-15C>T)
c.3363-15C>T (n.3363-15C>T)
c.2776-15C>T (n.2776-15C>T)
c.2835-15C>T (n.2835-15C>T)
c.3432-15C>T (n.3432-15C>T)
c.2937-15C>T (n.2937-15C>T)
c.3450-15C>T (n.3450-15C>T)
c.3168-15C>T (n.3168-15C>T)
c.3312-15C>T (n.3312-15C>T)
c.3309-15C>T (n.3309-15C>T)
c.3171-15C>T (n.3171-15C>T)
c.2844-15C>T (n.2844-15C>T)
c.2841-15C>T (n.2841-15C>T)
c.2940-15C>T (n.2940-15C>T)
c.*2868-15C>T (n.*2868-15C>T)
c.2106+182494C>T (n.2106+182494C>T)
c.590-15C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327202T>CCA2732803EIF2B5,EIF4G1c.3429-14T>C (n.3429-14T>C)
c.3363-14T>C (n.3363-14T>C)
c.2776-14T>C (n.2776-14T>C)
c.2835-14T>C (n.2835-14T>C)
c.3432-14T>C (n.3432-14T>C)
c.2937-14T>C (n.2937-14T>C)
c.3450-14T>C (n.3450-14T>C)
c.3168-14T>C (n.3168-14T>C)
c.3312-14T>C (n.3312-14T>C)
c.3309-14T>C (n.3309-14T>C)
c.3171-14T>C (n.3171-14T>C)
c.2844-14T>C (n.2844-14T>C)
c.2841-14T>C (n.2841-14T>C)
c.2940-14T>C (n.2940-14T>C)
c.*2868-14T>C (n.*2868-14T>C)
c.2106+182495T>C (n.2106+182495T>C)
c.590-14T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327202T=CA1425958088EIF2B5,EIF4G1c.3429-14T= (n.3429-14T=)
c.3363-14T= (n.3363-14T=)
c.2776-14T= (n.2776-14T=)
c.2835-14T= (n.2835-14T=)
c.3432-14T= (n.3432-14T=)
c.2937-14T= (n.2937-14T=)
c.3450-14T= (n.3450-14T=)
c.3168-14T= (n.3168-14T=)
c.3312-14T= (n.3312-14T=)
c.3309-14T= (n.3309-14T=)
c.3171-14T= (n.3171-14T=)
c.2844-14T= (n.2844-14T=)
c.2841-14T= (n.2841-14T=)
c.2940-14T= (n.2940-14T=)
c.*2868-14T= (n.*2868-14T=)
c.2106+182495T= (n.2106+182495T=)
c.590-14T=
3g.184327202dupCA903714376EIF2B5,EIF4G1c.3429-14dup (n.3429-14dup)
c.3363-14dup (n.3363-14dup)
c.2776-14dup (n.2776-14dup)
c.2835-14dup (n.2835-14dup)
c.3432-14dup (n.3432-14dup)
c.2937-14dup (n.2937-14dup)
c.3450-14dup (n.3450-14dup)
c.3168-14dup (n.3168-14dup)
c.3312-14dup (n.3312-14dup)
c.3309-14dup (n.3309-14dup)
c.3171-14dup (n.3171-14dup)
c.2844-14dup (n.2844-14dup)
c.2841-14dup (n.2841-14dup)
c.2940-14dup (n.2940-14dup)
c.*2868-14dup (n.*2868-14dup)
c.2106+182495dup (n.2106+182495dup)
c.590-14dup
 dbSNP
3g.184327203G>CCA2668840180EIF2B5,EIF4G1c.3429-13G>C (n.3429-13G>C)
c.3363-13G>C (n.3363-13G>C)
c.2776-13G>C (n.2776-13G>C)
c.2835-13G>C (n.2835-13G>C)
c.3432-13G>C (n.3432-13G>C)
c.2937-13G>C (n.2937-13G>C)
c.3450-13G>C (n.3450-13G>C)
c.3168-13G>C (n.3168-13G>C)
c.3312-13G>C (n.3312-13G>C)
c.3309-13G>C (n.3309-13G>C)
c.3171-13G>C (n.3171-13G>C)
c.2844-13G>C (n.2844-13G>C)
c.2841-13G>C (n.2841-13G>C)
c.2940-13G>C (n.2940-13G>C)
c.*2868-13G>C (n.*2868-13G>C)
c.2106+182496G>C (n.2106+182496G>C)
c.590-13G>C
 gnomAD v4
3g.184327205C=CA1425958091EIF2B5,EIF4G1c.3429-11C= (n.3429-11C=)
c.3363-11C= (n.3363-11C=)
c.2776-11C= (n.2776-11C=)
c.2835-11C= (n.2835-11C=)
c.3432-11C= (n.3432-11C=)
c.2937-11C= (n.2937-11C=)
c.3450-11C= (n.3450-11C=)
c.3168-11C= (n.3168-11C=)
c.3312-11C= (n.3312-11C=)
c.3309-11C= (n.3309-11C=)
c.3171-11C= (n.3171-11C=)
c.2844-11C= (n.2844-11C=)
c.2841-11C= (n.2841-11C=)
c.2940-11C= (n.2940-11C=)
c.*2868-11C= (n.*2868-11C=)
c.2106+182498C= (n.2106+182498C=)
c.590-11C=
3g.184327205C>GCA88867404EIF2B5,EIF4G1c.3429-11C>G (n.3429-11C>G)
c.3363-11C>G (n.3363-11C>G)
c.2776-11C>G (n.2776-11C>G)
c.2835-11C>G (n.2835-11C>G)
c.3432-11C>G (n.3432-11C>G)
c.2937-11C>G (n.2937-11C>G)
c.3450-11C>G (n.3450-11C>G)
c.3168-11C>G (n.3168-11C>G)
c.3312-11C>G (n.3312-11C>G)
c.3309-11C>G (n.3309-11C>G)
c.3171-11C>G (n.3171-11C>G)
c.2844-11C>G (n.2844-11C>G)
c.2841-11C>G (n.2841-11C>G)
c.2940-11C>G (n.2940-11C>G)
c.*2868-11C>G (n.*2868-11C>G)
c.2106+182498C>G (n.2106+182498C>G)
c.590-11C>G
 dbSNP
3g.184327205C>TCA2732804EIF2B5,EIF4G1c.3429-11C>T (n.3429-11C>T)
c.3363-11C>T (n.3363-11C>T)
c.2776-11C>T (n.2776-11C>T)
c.2835-11C>T (n.2835-11C>T)
c.3432-11C>T (n.3432-11C>T)
c.2937-11C>T (n.2937-11C>T)
c.3450-11C>T (n.3450-11C>T)
c.3168-11C>T (n.3168-11C>T)
c.3312-11C>T (n.3312-11C>T)
c.3309-11C>T (n.3309-11C>T)
c.3171-11C>T (n.3171-11C>T)
c.2844-11C>T (n.2844-11C>T)
c.2841-11C>T (n.2841-11C>T)
c.2940-11C>T (n.2940-11C>T)
c.*2868-11C>T (n.*2868-11C>T)
c.2106+182498C>T (n.2106+182498C>T)
c.590-11C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327206T>GCA2732805EIF2B5,EIF4G1c.3429-10T>G (n.3429-10T>G)
c.3363-10T>G (n.3363-10T>G)
c.2776-10T>G (n.2776-10T>G)
c.2835-10T>G (n.2835-10T>G)
c.3432-10T>G (n.3432-10T>G)
c.2937-10T>G (n.2937-10T>G)
c.3450-10T>G (n.3450-10T>G)
c.3168-10T>G (n.3168-10T>G)
c.3312-10T>G (n.3312-10T>G)
c.3309-10T>G (n.3309-10T>G)
c.3171-10T>G (n.3171-10T>G)
c.2844-10T>G (n.2844-10T>G)
c.2841-10T>G (n.2841-10T>G)
c.2940-10T>G (n.2940-10T>G)
c.*2868-10T>G (n.*2868-10T>G)
c.2106+182499T>G (n.2106+182499T>G)
c.590-10T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327206T=CA1425958093EIF2B5,EIF4G1c.3429-10T= (n.3429-10T=)
c.3363-10T= (n.3363-10T=)
c.2776-10T= (n.2776-10T=)
c.2835-10T= (n.2835-10T=)
c.3432-10T= (n.3432-10T=)
c.2937-10T= (n.2937-10T=)
c.3450-10T= (n.3450-10T=)
c.3168-10T= (n.3168-10T=)
c.3312-10T= (n.3312-10T=)
c.3309-10T= (n.3309-10T=)
c.3171-10T= (n.3171-10T=)
c.2844-10T= (n.2844-10T=)
c.2841-10T= (n.2841-10T=)
c.2940-10T= (n.2940-10T=)
c.*2868-10T= (n.*2868-10T=)
c.2106+182499T= (n.2106+182499T=)
c.590-10T=
3g.184327207G>ACA2732806EIF2B5,EIF4G1c.3429-9G>A (n.3429-9G>A)
c.3363-9G>A (n.3363-9G>A)
c.2776-9G>A (n.2776-9G>A)
c.2835-9G>A (n.2835-9G>A)
c.3432-9G>A (n.3432-9G>A)
c.2937-9G>A (n.2937-9G>A)
c.3450-9G>A (n.3450-9G>A)
c.3168-9G>A (n.3168-9G>A)
c.3312-9G>A (n.3312-9G>A)
c.3309-9G>A (n.3309-9G>A)
c.3171-9G>A (n.3171-9G>A)
c.2844-9G>A (n.2844-9G>A)
c.2841-9G>A (n.2841-9G>A)
c.2940-9G>A (n.2940-9G>A)
c.*2868-9G>A (n.*2868-9G>A)
c.2106+182500G>A (n.2106+182500G>A)
c.590-9G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327207G=CA1425958094EIF2B5,EIF4G1c.3429-9G= (n.3429-9G=)
c.3363-9G= (n.3363-9G=)
c.2776-9G= (n.2776-9G=)
c.2835-9G= (n.2835-9G=)
c.3432-9G= (n.3432-9G=)
c.2937-9G= (n.2937-9G=)
c.3450-9G= (n.3450-9G=)
c.3168-9G= (n.3168-9G=)
c.3312-9G= (n.3312-9G=)
c.3309-9G= (n.3309-9G=)
c.3171-9G= (n.3171-9G=)
c.2844-9G= (n.2844-9G=)
c.2841-9G= (n.2841-9G=)
c.2940-9G= (n.2940-9G=)
c.*2868-9G= (n.*2868-9G=)
c.2106+182500G= (n.2106+182500G=)
c.590-9G=
3g.184327207G>TCA2704724918EIF2B5,EIF4G1c.3429-9G>T (n.3429-9G>T)
c.3363-9G>T (n.3363-9G>T)
c.2776-9G>T (n.2776-9G>T)
c.2835-9G>T (n.2835-9G>T)
c.3432-9G>T (n.3432-9G>T)
c.2937-9G>T (n.2937-9G>T)
c.3450-9G>T (n.3450-9G>T)
c.3168-9G>T (n.3168-9G>T)
c.3312-9G>T (n.3312-9G>T)
c.3309-9G>T (n.3309-9G>T)
c.3171-9G>T (n.3171-9G>T)
c.2844-9G>T (n.2844-9G>T)
c.2841-9G>T (n.2841-9G>T)
c.2940-9G>T (n.2940-9G>T)
c.*2868-9G>T (n.*2868-9G>T)
c.2106+182500G>T (n.2106+182500G>T)
c.590-9G>T
 dbSNP
3g.184327208T>CCA2668840225EIF2B5,EIF4G1c.3429-8T>C (n.3429-8T>C)
c.3363-8T>C (n.3363-8T>C)
c.2776-8T>C (n.2776-8T>C)
c.2835-8T>C (n.2835-8T>C)
c.3432-8T>C (n.3432-8T>C)
c.2937-8T>C (n.2937-8T>C)
c.3450-8T>C (n.3450-8T>C)
c.3168-8T>C (n.3168-8T>C)
c.3312-8T>C (n.3312-8T>C)
c.3309-8T>C (n.3309-8T>C)
c.3171-8T>C (n.3171-8T>C)
c.2844-8T>C (n.2844-8T>C)
c.2841-8T>C (n.2841-8T>C)
c.2940-8T>C (n.2940-8T>C)
c.*2868-8T>C (n.*2868-8T>C)
c.2106+182501T>C (n.2106+182501T>C)
c.590-8T>C
 gnomAD v4
3g.184327210_184327211insCTCTCA88867433EIF2B5,EIF4G1c.3429-6_3429-5insCTCT (n.3429-6_3429-5insCTCT)
c.3363-6_3363-5insCTCT (n.3363-6_3363-5insCTCT)
c.2776-6_2776-5insCTCT (n.2776-6_2776-5insCTCT)
c.2835-6_2835-5insCTCT (n.2835-6_2835-5insCTCT)
c.3432-6_3432-5insCTCT (n.3432-6_3432-5insCTCT)
c.2937-6_2937-5insCTCT (n.2937-6_2937-5insCTCT)
c.3450-6_3450-5insCTCT (n.3450-6_3450-5insCTCT)
c.3168-6_3168-5insCTCT (n.3168-6_3168-5insCTCT)
c.3312-6_3312-5insCTCT (n.3312-6_3312-5insCTCT)
c.3309-6_3309-5insCTCT (n.3309-6_3309-5insCTCT)
c.3171-6_3171-5insCTCT (n.3171-6_3171-5insCTCT)
c.2844-6_2844-5insCTCT (n.2844-6_2844-5insCTCT)
c.2841-6_2841-5insCTCT (n.2841-6_2841-5insCTCT)
c.2940-6_2940-5insCTCT (n.2940-6_2940-5insCTCT)
c.*2868-6_*2868-5insCTCT (n.*2868-6_*2868-5insCTCT)
c.2106+182503_2106+182504insCTCT (n.2106+182503_2106+182504insCTCT)
c.590-6_590-5insCTCT
 dbSNP
3g.184327209C=CA1425958096EIF2B5,EIF4G1c.3429-7C= (n.3429-7C=)
c.3363-7C= (n.3363-7C=)
c.2776-7C= (n.2776-7C=)
c.2835-7C= (n.2835-7C=)
c.3432-7C= (n.3432-7C=)
c.2937-7C= (n.2937-7C=)
c.3450-7C= (n.3450-7C=)
c.3168-7C= (n.3168-7C=)
c.3312-7C= (n.3312-7C=)
c.3309-7C= (n.3309-7C=)
c.3171-7C= (n.3171-7C=)
c.2844-7C= (n.2844-7C=)
c.2841-7C= (n.2841-7C=)
c.2940-7C= (n.2940-7C=)
c.*2868-7C= (n.*2868-7C=)
c.2106+182502C= (n.2106+182502C=)
c.590-7C=
3g.184327209C>TCA1425958097EIF2B5,EIF4G1c.3429-7C>T (n.3429-7C>T)
c.3363-7C>T (n.3363-7C>T)
c.2776-7C>T (n.2776-7C>T)
c.2835-7C>T (n.2835-7C>T)
c.3432-7C>T (n.3432-7C>T)
c.2937-7C>T (n.2937-7C>T)
c.3450-7C>T (n.3450-7C>T)
c.3168-7C>T (n.3168-7C>T)
c.3312-7C>T (n.3312-7C>T)
c.3309-7C>T (n.3309-7C>T)
c.3171-7C>T (n.3171-7C>T)
c.2844-7C>T (n.2844-7C>T)
c.2841-7C>T (n.2841-7C>T)
c.2940-7C>T (n.2940-7C>T)
c.*2868-7C>T (n.*2868-7C>T)
c.2106+182502C>T (n.2106+182502C>T)
c.590-7C>T
 dbSNP gnomAD v4
3g.184327211T>GCA2732807EIF2B5,EIF4G1c.3429-5T>G (n.3429-5T>G)
c.3363-5T>G (n.3363-5T>G)
c.2776-5T>G (n.2776-5T>G)
c.2835-5T>G (n.2835-5T>G)
c.3432-5T>G (n.3432-5T>G)
c.2937-5T>G (n.2937-5T>G)
c.3450-5T>G (n.3450-5T>G)
c.3168-5T>G (n.3168-5T>G)
c.3312-5T>G (n.3312-5T>G)
c.3309-5T>G (n.3309-5T>G)
c.3171-5T>G (n.3171-5T>G)
c.2844-5T>G (n.2844-5T>G)
c.2841-5T>G (n.2841-5T>G)
c.2940-5T>G (n.2940-5T>G)
c.*2868-5T>G (n.*2868-5T>G)
c.2106+182504T>G (n.2106+182504T>G)
c.590-5T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327211T=CA1425958098EIF2B5,EIF4G1c.3429-5T= (n.3429-5T=)
c.3363-5T= (n.3363-5T=)
c.2776-5T= (n.2776-5T=)
c.2835-5T= (n.2835-5T=)
c.3432-5T= (n.3432-5T=)
c.2937-5T= (n.2937-5T=)
c.3450-5T= (n.3450-5T=)
c.3168-5T= (n.3168-5T=)
c.3312-5T= (n.3312-5T=)
c.3309-5T= (n.3309-5T=)
c.3171-5T= (n.3171-5T=)
c.2844-5T= (n.2844-5T=)
c.2841-5T= (n.2841-5T=)
c.2940-5T= (n.2940-5T=)
c.*2868-5T= (n.*2868-5T=)
c.2106+182504T= (n.2106+182504T=)
c.590-5T=
3g.184327212C=CA1425958100EIF2B5,EIF4G1c.3429-4C= (n.3429-4C=)
c.3363-4C= (n.3363-4C=)
c.2776-4C= (n.2776-4C=)
c.2835-4C= (n.2835-4C=)
c.3432-4C= (n.3432-4C=)
c.2937-4C= (n.2937-4C=)
c.3450-4C= (n.3450-4C=)
c.3168-4C= (n.3168-4C=)
c.3312-4C= (n.3312-4C=)
c.3309-4C= (n.3309-4C=)
c.3171-4C= (n.3171-4C=)
c.2844-4C= (n.2844-4C=)
c.2841-4C= (n.2841-4C=)
c.2940-4C= (n.2940-4C=)
c.*2868-4C= (n.*2868-4C=)
c.2106+182505C= (n.2106+182505C=)
c.590-4C=
3g.184327212C>GCA2577978168EIF2B5,EIF4G1c.3429-4C>G (n.3429-4C>G)
c.3363-4C>G (n.3363-4C>G)
c.2776-4C>G (n.2776-4C>G)
c.2835-4C>G (n.2835-4C>G)
c.3432-4C>G (n.3432-4C>G)
c.2937-4C>G (n.2937-4C>G)
c.3450-4C>G (n.3450-4C>G)
c.3168-4C>G (n.3168-4C>G)
c.3312-4C>G (n.3312-4C>G)
c.3309-4C>G (n.3309-4C>G)
c.3171-4C>G (n.3171-4C>G)
c.2844-4C>G (n.2844-4C>G)
c.2841-4C>G (n.2841-4C>G)
c.2940-4C>G (n.2940-4C>G)
c.*2868-4C>G (n.*2868-4C>G)
c.2106+182505C>G (n.2106+182505C>G)
c.590-4C>G
 gnomAD v4
3g.184327212C>TCA2732808EIF2B5,EIF4G1c.3429-4C>T (n.3429-4C>T)
c.3363-4C>T (n.3363-4C>T)
c.2776-4C>T (n.2776-4C>T)
c.2835-4C>T (n.2835-4C>T)
c.3432-4C>T (n.3432-4C>T)
c.2937-4C>T (n.2937-4C>T)
c.3450-4C>T (n.3450-4C>T)
c.3168-4C>T (n.3168-4C>T)
c.3312-4C>T (n.3312-4C>T)
c.3309-4C>T (n.3309-4C>T)
c.3171-4C>T (n.3171-4C>T)
c.2844-4C>T (n.2844-4C>T)
c.2841-4C>T (n.2841-4C>T)
c.2940-4C>T (n.2940-4C>T)
c.*2868-4C>T (n.*2868-4C>T)
c.2106+182505C>T (n.2106+182505C>T)
c.590-4C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327213C=CA1425958102EIF2B5,EIF4G1c.3429-3C= (n.3429-3C=)
c.3363-3C= (n.3363-3C=)
c.2776-3C= (n.2776-3C=)
c.2835-3C= (n.2835-3C=)
c.3432-3C= (n.3432-3C=)
c.2937-3C= (n.2937-3C=)
c.3450-3C= (n.3450-3C=)
c.3168-3C= (n.3168-3C=)
c.3312-3C= (n.3312-3C=)
c.3309-3C= (n.3309-3C=)
c.3171-3C= (n.3171-3C=)
c.2844-3C= (n.2844-3C=)
c.2841-3C= (n.2841-3C=)
c.2940-3C= (n.2940-3C=)
c.*2868-3C= (n.*2868-3C=)
c.2106+182506C= (n.2106+182506C=)
c.590-3C=
3g.184327213C>TCA548795601EIF2B5,EIF4G1c.3429-3C>T (n.3429-3C>T)
c.3363-3C>T (n.3363-3C>T)
c.2776-3C>T (n.2776-3C>T)
c.2835-3C>T (n.2835-3C>T)
c.3432-3C>T (n.3432-3C>T)
c.2937-3C>T (n.2937-3C>T)
c.3450-3C>T (n.3450-3C>T)
c.3168-3C>T (n.3168-3C>T)
c.3312-3C>T (n.3312-3C>T)
c.3309-3C>T (n.3309-3C>T)
c.3171-3C>T (n.3171-3C>T)
c.2844-3C>T (n.2844-3C>T)
c.2841-3C>T (n.2841-3C>T)
c.2940-3C>T (n.2940-3C>T)
c.*2868-3C>T (n.*2868-3C>T)
c.2106+182506C>T (n.2106+182506C>T)
c.590-3C>T
 dbSNP gnomAD v2 gnomAD v4
3g.184327213_184327216delinsCAGGCA1425958103EIF2B5,EIF4G1c.3429-3_3429delinsCAGG
c.3363-3_3363delinsCAGG
c.2776-3_2776delinsCAGG
c.2835-3_2835delinsCAGG
c.3432-3_3432delinsCAGG
c.2937-3_2937delinsCAGG
c.3450-3_3450delinsCAGG
c.3168-3_3168delinsCAGG
c.3312-3_3312delinsCAGG
c.3309-3_3309delinsCAGG
c.3171-3_3171delinsCAGG
c.2844-3_2844delinsCAGG
c.2841-3_2841delinsCAGG
c.2940-3_2940delinsCAGG
c.*2868-3_*2868delinsCAGG
c.2106+182506_2106+182509delinsCAGG (n.2106+182506_2106+182509delinsCAGG)
c.590-3_590delinsCAGG
3g.184327214A>CCA355413787EIF2B5,EIF4G1c.3429-2A>C (n.3429-2A>C)
c.3363-2A>C (n.3363-2A>C)
c.2776-2A>C (n.2776-2A>C)
c.2835-2A>C (n.2835-2A>C)
c.3432-2A>C (n.3432-2A>C)
c.2937-2A>C (n.2937-2A>C)
c.3450-2A>C (n.3450-2A>C)
c.3168-2A>C (n.3168-2A>C)
c.3312-2A>C (n.3312-2A>C)
c.3309-2A>C (n.3309-2A>C)
c.3171-2A>C (n.3171-2A>C)
c.2844-2A>C (n.2844-2A>C)
c.2841-2A>C (n.2841-2A>C)
c.2940-2A>C (n.2940-2A>C)
c.*2868-2A>C (n.*2868-2A>C)
c.2106+182507A>C (n.2106+182507A>C)
c.590-2A>C
3g.184327214A>GCA355413791EIF2B5,EIF4G1c.3429-2A>G (n.3429-2A>G)
c.3363-2A>G (n.3363-2A>G)
c.2776-2A>G (n.2776-2A>G)
c.2835-2A>G (n.2835-2A>G)
c.3432-2A>G (n.3432-2A>G)
c.2937-2A>G (n.2937-2A>G)
c.3450-2A>G (n.3450-2A>G)
c.3168-2A>G (n.3168-2A>G)
c.3312-2A>G (n.3312-2A>G)
c.3309-2A>G (n.3309-2A>G)
c.3171-2A>G (n.3171-2A>G)
c.2844-2A>G (n.2844-2A>G)
c.2841-2A>G (n.2841-2A>G)
c.2940-2A>G (n.2940-2A>G)
c.*2868-2A>G (n.*2868-2A>G)
c.2106+182507A>G (n.2106+182507A>G)
c.590-2A>G
3g.184327214A>TCA355413792EIF2B5,EIF4G1c.3429-2A>T (n.3429-2A>T)
c.3363-2A>T (n.3363-2A>T)
c.2776-2A>T (n.2776-2A>T)
c.2835-2A>T (n.2835-2A>T)
c.3432-2A>T (n.3432-2A>T)
c.2937-2A>T (n.2937-2A>T)
c.3450-2A>T (n.3450-2A>T)
c.3168-2A>T (n.3168-2A>T)
c.3312-2A>T (n.3312-2A>T)
c.3309-2A>T (n.3309-2A>T)
c.3171-2A>T (n.3171-2A>T)
c.2844-2A>T (n.2844-2A>T)
c.2841-2A>T (n.2841-2A>T)
c.2940-2A>T (n.2940-2A>T)
c.*2868-2A>T (n.*2868-2A>T)
c.2106+182507A>T (n.2106+182507A>T)
c.590-2A>T
3g.184327216_184327218delCA2732809EIF2B5,EIF4G1c.3429_3431del
c.3363_3365del
c.2776_2778del
c.2835_2837del
c.3432_3434del
c.2937_2939del
c.3450_3452del
c.3168_3170del
c.3312_3314del
c.3309_3311del
c.3171_3173del
c.2844_2846del
c.2841_2843del
c.2940_2942del
c.*2868_*2870del
c.2106+182509_2106+182511del (n.2106+182509_2106+182511del)
c.590_592del
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327215G>ACA355413793EIF2B5,EIF4G1c.3429-1G>A (n.3429-1G>A)
c.3363-1G>A (n.3363-1G>A)
c.2776-1G>A (n.2776-1G>A)
c.2835-1G>A (n.2835-1G>A)
c.3432-1G>A (n.3432-1G>A)
c.2937-1G>A (n.2937-1G>A)
c.3450-1G>A (n.3450-1G>A)
c.3168-1G>A (n.3168-1G>A)
c.3312-1G>A (n.3312-1G>A)
c.3309-1G>A (n.3309-1G>A)
c.3171-1G>A (n.3171-1G>A)
c.2844-1G>A (n.2844-1G>A)
c.2841-1G>A (n.2841-1G>A)
c.2940-1G>A (n.2940-1G>A)
c.*2868-1G>A (n.*2868-1G>A)
c.2106+182508G>A (n.2106+182508G>A)
c.590-1G>A
3g.184327215G>CCA355413794EIF2B5,EIF4G1c.3429-1G>C (n.3429-1G>C)
c.3363-1G>C (n.3363-1G>C)
c.2776-1G>C (n.2776-1G>C)
c.2835-1G>C (n.2835-1G>C)
c.3432-1G>C (n.3432-1G>C)
c.2937-1G>C (n.2937-1G>C)
c.3450-1G>C (n.3450-1G>C)
c.3168-1G>C (n.3168-1G>C)
c.3312-1G>C (n.3312-1G>C)
c.3309-1G>C (n.3309-1G>C)
c.3171-1G>C (n.3171-1G>C)
c.2844-1G>C (n.2844-1G>C)
c.2841-1G>C (n.2841-1G>C)
c.2940-1G>C (n.2940-1G>C)
c.*2868-1G>C (n.*2868-1G>C)
c.2106+182508G>C (n.2106+182508G>C)
c.590-1G>C
3g.184327215G>TCA355413795EIF2B5,EIF4G1c.3429-1G>T (n.3429-1G>T)
c.3363-1G>T (n.3363-1G>T)
c.2776-1G>T (n.2776-1G>T)
c.2835-1G>T (n.2835-1G>T)
c.3432-1G>T (n.3432-1G>T)
c.2937-1G>T (n.2937-1G>T)
c.3450-1G>T (n.3450-1G>T)
c.3168-1G>T (n.3168-1G>T)
c.3312-1G>T (n.3312-1G>T)
c.3309-1G>T (n.3309-1G>T)
c.3171-1G>T (n.3171-1G>T)
c.2844-1G>T (n.2844-1G>T)
c.2841-1G>T (n.2841-1G>T)
c.2940-1G>T (n.2940-1G>T)
c.*2868-1G>T (n.*2868-1G>T)
c.2106+182508G>T (n.2106+182508G>T)
c.590-1G>T
3g.184327216G>ACA2732810EIF2B5,EIF4G1c.3429G>A (p.Arg1143=)
c.3363G>A (p.Arg1121=)
c.2776G>A (n.2776G>A)
c.2835G>A (p.Arg945=)
c.3432G>A (p.Arg1144=)
c.2937G>A (p.Arg979=)
c.3450G>A (p.Arg1150=)
c.3168G>A (p.Arg1056=)
c.3312G>A (p.Arg1104=)
c.3309G>A (p.Arg1103=)
c.3171G>A (p.Arg1057=)
c.2844G>A (p.Arg948=)
c.2841G>A (p.Arg947=)
c.2940G>A (p.Arg980=)
c.*2868G>A (n.*2868G>A)
c.2106+182509G>A (n.2106+182509G>A)
c.590G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327216G>CCA355413801EIF2B5,EIF4G1c.3429G>C (p.Arg1143Ser)
c.3363G>C (p.Arg1121Ser)
c.2776G>C (n.2776G>C)
c.2835G>C (p.Arg945Ser)
c.3432G>C (p.Arg1144Ser)
c.2937G>C (p.Arg979Ser)
c.3450G>C (p.Arg1150Ser)
c.3168G>C (p.Arg1056Ser)
c.3312G>C (p.Arg1104Ser)
c.3309G>C (p.Arg1103Ser)
c.3171G>C (p.Arg1057Ser)
c.2844G>C (p.Arg948Ser)
c.2841G>C (p.Arg947Ser)
c.2940G>C (p.Arg980Ser)
c.*2868G>C (n.*2868G>C)
c.2106+182509G>C (n.2106+182509G>C)
c.590G>C
3g.184327216G=CA1425958109EIF2B5,EIF4G1c.3429G= (p.Arg1143=)
c.3363G= (p.Arg1121=)
c.2776G= (n.2776G=)
c.2835G= (p.Arg945=)
c.3432G= (p.Arg1144=)
c.2937G= (p.Arg979=)
c.3450G= (p.Arg1150=)
c.3168G= (p.Arg1056=)
c.3312G= (p.Arg1104=)
c.3309G= (p.Arg1103=)
c.3171G= (p.Arg1057=)
c.2844G= (p.Arg948=)
c.2841G= (p.Arg947=)
c.2940G= (p.Arg980=)
c.*2868G= (n.*2868G=)
c.2106+182509G= (n.2106+182509G=)
c.590G=
3g.184327216G>TCA355413809EIF2B5,EIF4G1c.3429G>T (p.Arg1143Ser)
c.3363G>T (p.Arg1121Ser)
c.2776G>T (n.2776G>T)
c.2835G>T (p.Arg945Ser)
c.3432G>T (p.Arg1144Ser)
c.2937G>T (p.Arg979Ser)
c.3450G>T (p.Arg1150Ser)
c.3168G>T (p.Arg1056Ser)
c.3312G>T (p.Arg1104Ser)
c.3309G>T (p.Arg1103Ser)
c.3171G>T (p.Arg1057Ser)
c.2844G>T (p.Arg948Ser)
c.2841G>T (p.Arg947Ser)
c.2940G>T (p.Arg980Ser)
c.*2868G>T (n.*2868G>T)
c.2106+182509G>T (n.2106+182509G>T)
c.590G>T
3g.184327217A>CCA355413812EIF2B5,EIF4G1c.3430A>C (p.Ser1144Arg)
c.3364A>C (p.Ser1122Arg)
c.2777A>C (n.2777A>C)
c.2836A>C (p.Ser946Arg)
c.3433A>C (p.Ser1145Arg)
c.2938A>C (p.Ser980Arg)
c.3451A>C (p.Ser1151Arg)
c.3169A>C (p.Ser1057Arg)
c.3313A>C (p.Ser1105Arg)
c.3310A>C (p.Ser1104Arg)
c.3172A>C (p.Ser1058Arg)
c.2845A>C (p.Ser949Arg)
c.2842A>C (p.Ser948Arg)
c.2941A>C (p.Ser981Arg)
c.*2869A>C (n.*2869A>C)
c.2106+182510A>C (n.2106+182510A>C)
c.591A>C
3g.184327217A>GCA355413816EIF2B5,EIF4G1c.3430A>G (p.Ser1144Gly)
c.3364A>G (p.Ser1122Gly)
c.2777A>G (n.2777A>G)
c.2836A>G (p.Ser946Gly)
c.3433A>G (p.Ser1145Gly)
c.2938A>G (p.Ser980Gly)
c.3451A>G (p.Ser1151Gly)
c.3169A>G (p.Ser1057Gly)
c.3313A>G (p.Ser1105Gly)
c.3310A>G (p.Ser1104Gly)
c.3172A>G (p.Ser1058Gly)
c.2845A>G (p.Ser949Gly)
c.2842A>G (p.Ser948Gly)
c.2941A>G (p.Ser981Gly)
c.*2869A>G (n.*2869A>G)
c.2106+182510A>G (n.2106+182510A>G)
c.591A>G
3g.184327217A>TCA355413814EIF2B5,EIF4G1c.3430A>T (p.Ser1144Cys)
c.3364A>T (p.Ser1122Cys)
c.2777A>T (n.2777A>T)
c.2836A>T (p.Ser946Cys)
c.3433A>T (p.Ser1145Cys)
c.2938A>T (p.Ser980Cys)
c.3451A>T (p.Ser1151Cys)
c.3169A>T (p.Ser1057Cys)
c.3313A>T (p.Ser1105Cys)
c.3310A>T (p.Ser1104Cys)
c.3172A>T (p.Ser1058Cys)
c.2845A>T (p.Ser949Cys)
c.2842A>T (p.Ser948Cys)
c.2941A>T (p.Ser981Cys)
c.*2869A>T (n.*2869A>T)
c.2106+182510A>T (n.2106+182510A>T)
c.591A>T
3g.184327218G>ACA355413819EIF2B5,EIF4G1c.3431G>A (p.Ser1144Asn)
c.3365G>A (p.Ser1122Asn)
c.2778G>A (n.2778G>A)
c.2837G>A (p.Ser946Asn)
c.3434G>A (p.Ser1145Asn)
c.2939G>A (p.Ser980Asn)
c.3452G>A (p.Ser1151Asn)
c.3170G>A (p.Ser1057Asn)
c.3314G>A (p.Ser1105Asn)
c.3311G>A (p.Ser1104Asn)
c.3173G>A (p.Ser1058Asn)
c.2846G>A (p.Ser949Asn)
c.2843G>A (p.Ser948Asn)
c.2942G>A (p.Ser981Asn)
c.*2870G>A (n.*2870G>A)
c.2106+182511G>A (n.2106+182511G>A)
c.592G>A
 gnomAD v4
3g.184327218G>CCA355413825EIF2B5,EIF4G1c.3431G>C (p.Ser1144Thr)
c.3365G>C (p.Ser1122Thr)
c.2778G>C (n.2778G>C)
c.2837G>C (p.Ser946Thr)
c.3434G>C (p.Ser1145Thr)
c.2939G>C (p.Ser980Thr)
c.3452G>C (p.Ser1151Thr)
c.3170G>C (p.Ser1057Thr)
c.3314G>C (p.Ser1105Thr)
c.3311G>C (p.Ser1104Thr)
c.3173G>C (p.Ser1058Thr)
c.2846G>C (p.Ser949Thr)
c.2843G>C (p.Ser948Thr)
c.2942G>C (p.Ser981Thr)
c.*2870G>C (n.*2870G>C)
c.2106+182511G>C (n.2106+182511G>C)
c.592G>C
3g.184327218G>TCA355413821EIF2B5,EIF4G1c.3431G>T (p.Ser1144Ile)
c.3365G>T (p.Ser1122Ile)
c.2778G>T (n.2778G>T)
c.2837G>T (p.Ser946Ile)
c.3434G>T (p.Ser1145Ile)
c.2939G>T (p.Ser980Ile)
c.3452G>T (p.Ser1151Ile)
c.3170G>T (p.Ser1057Ile)
c.3314G>T (p.Ser1105Ile)
c.3311G>T (p.Ser1104Ile)
c.3173G>T (p.Ser1058Ile)
c.2846G>T (p.Ser949Ile)
c.2843G>T (p.Ser948Ile)
c.2942G>T (p.Ser981Ile)
c.*2870G>T (n.*2870G>T)
c.2106+182511G>T (n.2106+182511G>T)
c.592G>T
3g.184327219T>ACA355413830EIF2B5,EIF4G1c.3432T>A (p.Ser1144Arg)
c.3366T>A (p.Ser1122Arg)
c.2779T>A (n.2779T>A)
c.2838T>A (p.Ser946Arg)
c.3435T>A (p.Ser1145Arg)
c.2940T>A (p.Ser980Arg)
c.3453T>A (p.Ser1151Arg)
c.3171T>A (p.Ser1057Arg)
c.3315T>A (p.Ser1105Arg)
c.3312T>A (p.Ser1104Arg)
c.3174T>A (p.Ser1058Arg)
c.2847T>A (p.Ser949Arg)
c.2844T>A (p.Ser948Arg)
c.2943T>A (p.Ser981Arg)
c.*2871T>A (n.*2871T>A)
c.2106+182512T>A (n.2106+182512T>A)
c.593T>A
3g.184327219T>CCA437330250EIF2B5,EIF4G1c.3432T>C (p.Ser1144=)
c.3366T>C (p.Ser1122=)
c.2779T>C (n.2779T>C)
c.2838T>C (p.Ser946=)
c.3435T>C (p.Ser1145=)
c.2940T>C (p.Ser980=)
c.3453T>C (p.Ser1151=)
c.3171T>C (p.Ser1057=)
c.3315T>C (p.Ser1105=)
c.3312T>C (p.Ser1104=)
c.3174T>C (p.Ser1058=)
c.2847T>C (p.Ser949=)
c.2844T>C (p.Ser948=)
c.2943T>C (p.Ser981=)
c.*2871T>C (n.*2871T>C)
c.2106+182512T>C (n.2106+182512T>C)
c.593T>C
3g.184327219T>GCA355413835EIF2B5,EIF4G1c.3432T>G (p.Ser1144Arg)
c.3366T>G (p.Ser1122Arg)
c.2779T>G (n.2779T>G)
c.2838T>G (p.Ser946Arg)
c.3435T>G (p.Ser1145Arg)
c.2940T>G (p.Ser980Arg)
c.3453T>G (p.Ser1151Arg)
c.3171T>G (p.Ser1057Arg)
c.3315T>G (p.Ser1105Arg)
c.3312T>G (p.Ser1104Arg)
c.3174T>G (p.Ser1058Arg)
c.2847T>G (p.Ser949Arg)
c.2844T>G (p.Ser948Arg)
c.2943T>G (p.Ser981Arg)
c.*2871T>G (n.*2871T>G)
c.2106+182512T>G (n.2106+182512T>G)
c.593T>G
 dbSNP
3g.184327219T=CA1425958114EIF2B5,EIF4G1c.3432T= (p.Ser1144=)
c.3366T= (p.Ser1122=)
c.2779T= (n.2779T=)
c.2838T= (p.Ser946=)
c.3435T= (p.Ser1145=)
c.2940T= (p.Ser980=)
c.3453T= (p.Ser1151=)
c.3171T= (p.Ser1057=)
c.3315T= (p.Ser1105=)
c.3312T= (p.Ser1104=)
c.3174T= (p.Ser1058=)
c.2847T= (p.Ser949=)
c.2844T= (p.Ser948=)
c.2943T= (p.Ser981=)
c.*2871T= (n.*2871T=)
c.2106+182512T= (n.2106+182512T=)
c.593T=
3g.184327220A>CCA355413837EIF2B5,EIF4G1c.3433A>C (p.Ser1145Arg)
c.3367A>C (p.Ser1123Arg)
c.2780A>C (n.2780A>C)
c.2839A>C (p.Ser947Arg)
c.3436A>C (p.Ser1146Arg)
c.2941A>C (p.Ser981Arg)
c.3454A>C (p.Ser1152Arg)
c.3172A>C (p.Ser1058Arg)
c.3316A>C (p.Ser1106Arg)
c.3313A>C (p.Ser1105Arg)
c.3175A>C (p.Ser1059Arg)
c.2848A>C (p.Ser950Arg)
c.2845A>C (p.Ser949Arg)
c.2944A>C (p.Ser982Arg)
c.*2872A>C (n.*2872A>C)
c.2106+182513A>C (n.2106+182513A>C)
c.594A>C
3g.184327220A>GCA355413840EIF2B5,EIF4G1c.3433A>G (p.Ser1145Gly)
c.3367A>G (p.Ser1123Gly)
c.2780A>G (n.2780A>G)
c.2839A>G (p.Ser947Gly)
c.3436A>G (p.Ser1146Gly)
c.2941A>G (p.Ser981Gly)
c.3454A>G (p.Ser1152Gly)
c.3172A>G (p.Ser1058Gly)
c.3316A>G (p.Ser1106Gly)
c.3313A>G (p.Ser1105Gly)
c.3175A>G (p.Ser1059Gly)
c.2848A>G (p.Ser950Gly)
c.2845A>G (p.Ser949Gly)
c.2944A>G (p.Ser982Gly)
c.*2872A>G (n.*2872A>G)
c.2106+182513A>G (n.2106+182513A>G)
c.594A>G
3g.184327220A>TCA355413843EIF2B5,EIF4G1c.3433A>T (p.Ser1145Cys)
c.3367A>T (p.Ser1123Cys)
c.2780A>T (n.2780A>T)
c.2839A>T (p.Ser947Cys)
c.3436A>T (p.Ser1146Cys)
c.2941A>T (p.Ser981Cys)
c.3454A>T (p.Ser1152Cys)
c.3172A>T (p.Ser1058Cys)
c.3316A>T (p.Ser1106Cys)
c.3313A>T (p.Ser1105Cys)
c.3175A>T (p.Ser1059Cys)
c.2848A>T (p.Ser950Cys)
c.2845A>T (p.Ser949Cys)
c.2944A>T (p.Ser982Cys)
c.*2872A>T (n.*2872A>T)
c.2106+182513A>T (n.2106+182513A>T)
c.594A>T
3g.184327221G>ACA355413847EIF2B5,EIF4G1c.3434G>A (p.Ser1145Asn)
c.3368G>A (p.Ser1123Asn)
c.2781G>A (n.2781G>A)
c.2840G>A (p.Ser947Asn)
c.3437G>A (p.Ser1146Asn)
c.2942G>A (p.Ser981Asn)
c.3455G>A (p.Ser1152Asn)
c.3173G>A (p.Ser1058Asn)
c.3317G>A (p.Ser1106Asn)
c.3314G>A (p.Ser1105Asn)
c.3176G>A (p.Ser1059Asn)
c.2849G>A (p.Ser950Asn)
c.2846G>A (p.Ser949Asn)
c.2945G>A (p.Ser982Asn)
c.*2873G>A (n.*2873G>A)
c.2106+182514G>A (n.2106+182514G>A)
c.595G>A
3g.184327221G>CCA355413849EIF2B5,EIF4G1c.3434G>C (p.Ser1145Thr)
c.3368G>C (p.Ser1123Thr)
c.2781G>C (n.2781G>C)
c.2840G>C (p.Ser947Thr)
c.3437G>C (p.Ser1146Thr)
c.2942G>C (p.Ser981Thr)
c.3455G>C (p.Ser1152Thr)
c.3173G>C (p.Ser1058Thr)
c.3317G>C (p.Ser1106Thr)
c.3314G>C (p.Ser1105Thr)
c.3176G>C (p.Ser1059Thr)
c.2849G>C (p.Ser950Thr)
c.2846G>C (p.Ser949Thr)
c.2945G>C (p.Ser982Thr)
c.*2873G>C (n.*2873G>C)
c.2106+182514G>C (n.2106+182514G>C)
c.595G>C
3g.184327221G>TCA355413851EIF2B5,EIF4G1c.3434G>T (p.Ser1145Ile)
c.3368G>T (p.Ser1123Ile)
c.2781G>T (n.2781G>T)
c.2840G>T (p.Ser947Ile)
c.3437G>T (p.Ser1146Ile)
c.2942G>T (p.Ser981Ile)
c.3455G>T (p.Ser1152Ile)
c.3173G>T (p.Ser1058Ile)
c.3317G>T (p.Ser1106Ile)
c.3314G>T (p.Ser1105Ile)
c.3176G>T (p.Ser1059Ile)
c.2849G>T (p.Ser950Ile)
c.2846G>T (p.Ser949Ile)
c.2945G>T (p.Ser982Ile)
c.*2873G>T (n.*2873G>T)
c.2106+182514G>T (n.2106+182514G>T)
c.595G>T
3g.184327222C>ACA355413854EIF2B5,EIF4G1c.3435C>A (p.Ser1145Arg)
c.3369C>A (p.Ser1123Arg)
c.2782C>A (n.2782C>A)
c.2841C>A (p.Ser947Arg)
c.3438C>A (p.Ser1146Arg)
c.2943C>A (p.Ser981Arg)
c.3456C>A (p.Ser1152Arg)
c.3174C>A (p.Ser1058Arg)
c.3318C>A (p.Ser1106Arg)
c.3315C>A (p.Ser1105Arg)
c.3177C>A (p.Ser1059Arg)
c.2850C>A (p.Ser950Arg)
c.2847C>A (p.Ser949Arg)
c.2946C>A (p.Ser982Arg)
c.*2874C>A (n.*2874C>A)
c.2106+182515C>A (n.2106+182515C>A)
c.596C>A
3g.184327222C>GCA355413857EIF2B5,EIF4G1c.3435C>G (p.Ser1145Arg)
c.3369C>G (p.Ser1123Arg)
c.2782C>G (n.2782C>G)
c.2841C>G (p.Ser947Arg)
c.3438C>G (p.Ser1146Arg)
c.2943C>G (p.Ser981Arg)
c.3456C>G (p.Ser1152Arg)
c.3174C>G (p.Ser1058Arg)
c.3318C>G (p.Ser1106Arg)
c.3315C>G (p.Ser1105Arg)
c.3177C>G (p.Ser1059Arg)
c.2850C>G (p.Ser950Arg)
c.2847C>G (p.Ser949Arg)
c.2946C>G (p.Ser982Arg)
c.*2874C>G (n.*2874C>G)
c.2106+182515C>G (n.2106+182515C>G)
c.596C>G
3g.184327222C>TCA437330251EIF2B5,EIF4G1c.3435C>T (p.Ser1145=)
c.3369C>T (p.Ser1123=)
c.2782C>T (n.2782C>T)
c.2841C>T (p.Ser947=)
c.3438C>T (p.Ser1146=)
c.2943C>T (p.Ser981=)
c.3456C>T (p.Ser1152=)
c.3174C>T (p.Ser1058=)
c.3318C>T (p.Ser1106=)
c.3315C>T (p.Ser1105=)
c.3177C>T (p.Ser1059=)
c.2850C>T (p.Ser950=)
c.2847C>T (p.Ser949=)
c.2946C>T (p.Ser982=)
c.*2874C>T (n.*2874C>T)
c.2106+182515C>T (n.2106+182515C>T)
c.596C>T
3g.184327223T>ACA355413860EIF2B5,EIF4G1c.3436T>A (p.Leu1146Met)
c.3370T>A (p.Leu1124Met)
c.2783T>A (n.2783T>A)
c.2842T>A (p.Leu948Met)
c.3439T>A (p.Leu1147Met)
c.2944T>A (p.Leu982Met)
c.3457T>A (p.Leu1153Met)
c.3175T>A (p.Leu1059Met)
c.3319T>A (p.Leu1107Met)
c.3316T>A (p.Leu1106Met)
c.3178T>A (p.Leu1060Met)
c.2851T>A (p.Leu951Met)
c.2848T>A (p.Leu950Met)
c.2947T>A (p.Leu983Met)
c.*2875T>A (n.*2875T>A)
c.2106+182516T>A (n.2106+182516T>A)
c.597T>A
3g.184327223T>CCA437330252EIF2B5,EIF4G1c.3436T>C (p.Leu1146=)
c.3370T>C (p.Leu1124=)
c.2783T>C (n.2783T>C)
c.2842T>C (p.Leu948=)
c.3439T>C (p.Leu1147=)
c.2944T>C (p.Leu982=)
c.3457T>C (p.Leu1153=)
c.3175T>C (p.Leu1059=)
c.3319T>C (p.Leu1107=)
c.3316T>C (p.Leu1106=)
c.3178T>C (p.Leu1060=)
c.2851T>C (p.Leu951=)
c.2848T>C (p.Leu950=)
c.2947T>C (p.Leu983=)
c.*2875T>C (n.*2875T>C)
c.2106+182516T>C (n.2106+182516T>C)
c.597T>C
3g.184327223T>GCA355413863EIF2B5,EIF4G1c.3436T>G (p.Leu1146Val)
c.3370T>G (p.Leu1124Val)
c.2783T>G (n.2783T>G)
c.2842T>G (p.Leu948Val)
c.3439T>G (p.Leu1147Val)
c.2944T>G (p.Leu982Val)
c.3457T>G (p.Leu1153Val)
c.3175T>G (p.Leu1059Val)
c.3319T>G (p.Leu1107Val)
c.3316T>G (p.Leu1106Val)
c.3178T>G (p.Leu1060Val)
c.2851T>G (p.Leu951Val)
c.2848T>G (p.Leu950Val)
c.2947T>G (p.Leu983Val)
c.*2875T>G (n.*2875T>G)
c.2106+182516T>G (n.2106+182516T>G)
c.597T>G
3g.184327224T>ACA355413867EIF2B5,EIF4G1c.3437T>A (p.Leu1146Ter)
c.3371T>A (p.Leu1124Ter)
c.2784T>A (n.2784T>A)
c.2843T>A (p.Leu948Ter)
c.3440T>A (p.Leu1147Ter)
c.2945T>A (p.Leu982Ter)
c.3458T>A (p.Leu1153Ter)
c.3176T>A (p.Leu1059Ter)
c.3320T>A (p.Leu1107Ter)
c.3317T>A (p.Leu1106Ter)
c.3179T>A (p.Leu1060Ter)
c.2852T>A (p.Leu951Ter)
c.2849T>A (p.Leu950Ter)
c.2948T>A (p.Leu983Ter)
c.*2876T>A (n.*2876T>A)
c.2106+182517T>A (n.2106+182517T>A)
c.598T>A
3g.184327224T>CCA355413873EIF2B5,EIF4G1c.3437T>C (p.Leu1146Ser)
c.3371T>C (p.Leu1124Ser)
c.2784T>C (n.2784T>C)
c.2843T>C (p.Leu948Ser)
c.3440T>C (p.Leu1147Ser)
c.2945T>C (p.Leu982Ser)
c.3458T>C (p.Leu1153Ser)
c.3176T>C (p.Leu1059Ser)
c.3320T>C (p.Leu1107Ser)
c.3317T>C (p.Leu1106Ser)
c.3179T>C (p.Leu1060Ser)
c.2852T>C (p.Leu951Ser)
c.2849T>C (p.Leu950Ser)
c.2948T>C (p.Leu983Ser)
c.*2876T>C (n.*2876T>C)
c.2106+182517T>C (n.2106+182517T>C)
c.598T>C
 gnomAD v4
3g.184327224T>GCA355413870EIF2B5,EIF4G1c.3437T>G (p.Leu1146Trp)
c.3371T>G (p.Leu1124Trp)
c.2784T>G (n.2784T>G)
c.2843T>G (p.Leu948Trp)
c.3440T>G (p.Leu1147Trp)
c.2945T>G (p.Leu982Trp)
c.3458T>G (p.Leu1153Trp)
c.3176T>G (p.Leu1059Trp)
c.3320T>G (p.Leu1107Trp)
c.3317T>G (p.Leu1106Trp)
c.3179T>G (p.Leu1060Trp)
c.2852T>G (p.Leu951Trp)
c.2849T>G (p.Leu950Trp)
c.2948T>G (p.Leu983Trp)
c.*2876T>G (n.*2876T>G)
c.2106+182517T>G (n.2106+182517T>G)
c.598T>G
3g.184327225G>ACA437330253EIF2B5,EIF4G1c.3438G>A (p.Leu1146=)
c.3372G>A (p.Leu1124=)
c.2785G>A (n.2785G>A)
c.2844G>A (p.Leu948=)
c.3441G>A (p.Leu1147=)
c.2946G>A (p.Leu982=)
c.3459G>A (p.Leu1153=)
c.3177G>A (p.Leu1059=)
c.3321G>A (p.Leu1107=)
c.3318G>A (p.Leu1106=)
c.3180G>A (p.Leu1060=)
c.2853G>A (p.Leu951=)
c.2850G>A (p.Leu950=)
c.2949G>A (p.Leu983=)
c.*2877G>A (n.*2877G>A)
c.2106+182518G>A (n.2106+182518G>A)
c.599G>A
3g.184327225G>CCA355413875EIF2B5,EIF4G1c.3438G>C (p.Leu1146Phe)
c.3372G>C (p.Leu1124Phe)
c.2785G>C (n.2785G>C)
c.2844G>C (p.Leu948Phe)
c.3441G>C (p.Leu1147Phe)
c.2946G>C (p.Leu982Phe)
c.3459G>C (p.Leu1153Phe)
c.3177G>C (p.Leu1059Phe)
c.3321G>C (p.Leu1107Phe)
c.3318G>C (p.Leu1106Phe)
c.3180G>C (p.Leu1060Phe)
c.2853G>C (p.Leu951Phe)
c.2850G>C (p.Leu950Phe)
c.2949G>C (p.Leu983Phe)
c.*2877G>C (n.*2877G>C)
c.2106+182518G>C (n.2106+182518G>C)
c.599G>C
3g.184327225G>TCA355413879EIF2B5,EIF4G1c.3438G>T (p.Leu1146Phe)
c.3372G>T (p.Leu1124Phe)
c.2785G>T (n.2785G>T)
c.2844G>T (p.Leu948Phe)
c.3441G>T (p.Leu1147Phe)
c.2946G>T (p.Leu982Phe)
c.3459G>T (p.Leu1153Phe)
c.3177G>T (p.Leu1059Phe)
c.3321G>T (p.Leu1107Phe)
c.3318G>T (p.Leu1106Phe)
c.3180G>T (p.Leu1060Phe)
c.2853G>T (p.Leu951Phe)
c.2850G>T (p.Leu950Phe)
c.2949G>T (p.Leu983Phe)
c.*2877G>T (n.*2877G>T)
c.2106+182518G>T (n.2106+182518G>T)
c.599G>T
 gnomAD v4
3g.184327226A>CCA355413883EIF2B5,EIF4G1c.3439A>C (p.Ser1147Arg)
c.3373A>C (p.Ser1125Arg)
c.2786A>C (n.2786A>C)
c.2845A>C (p.Ser949Arg)
c.3442A>C (p.Ser1148Arg)
c.2947A>C (p.Ser983Arg)
c.3460A>C (p.Ser1154Arg)
c.3178A>C (p.Ser1060Arg)
c.3322A>C (p.Ser1108Arg)
c.3319A>C (p.Ser1107Arg)
c.3181A>C (p.Ser1061Arg)
c.2854A>C (p.Ser952Arg)
c.2851A>C (p.Ser951Arg)
c.2950A>C (p.Ser984Arg)
c.*2878A>C (n.*2878A>C)
c.2106+182519A>C (n.2106+182519A>C)
c.600A>C
3g.184327226A>GCA355413885EIF2B5,EIF4G1c.3439A>G (p.Ser1147Gly)
c.3373A>G (p.Ser1125Gly)
c.2786A>G (n.2786A>G)
c.2845A>G (p.Ser949Gly)
c.3442A>G (p.Ser1148Gly)
c.2947A>G (p.Ser983Gly)
c.3460A>G (p.Ser1154Gly)
c.3178A>G (p.Ser1060Gly)
c.3322A>G (p.Ser1108Gly)
c.3319A>G (p.Ser1107Gly)
c.3181A>G (p.Ser1061Gly)
c.2854A>G (p.Ser952Gly)
c.2851A>G (p.Ser951Gly)
c.2950A>G (p.Ser984Gly)
c.*2878A>G (n.*2878A>G)
c.2106+182519A>G (n.2106+182519A>G)
c.600A>G
3g.184327226A>TCA355413891EIF2B5,EIF4G1c.3439A>T (p.Ser1147Cys)
c.3373A>T (p.Ser1125Cys)
c.2786A>T (n.2786A>T)
c.2845A>T (p.Ser949Cys)
c.3442A>T (p.Ser1148Cys)
c.2947A>T (p.Ser983Cys)
c.3460A>T (p.Ser1154Cys)
c.3178A>T (p.Ser1060Cys)
c.3322A>T (p.Ser1108Cys)
c.3319A>T (p.Ser1107Cys)
c.3181A>T (p.Ser1061Cys)
c.2854A>T (p.Ser952Cys)
c.2851A>T (p.Ser951Cys)
c.2950A>T (p.Ser984Cys)
c.*2878A>T (n.*2878A>T)
c.2106+182519A>T (n.2106+182519A>T)
c.600A>T
3g.184327227G>ACA355413894EIF2B5,EIF4G1c.3440G>A (p.Ser1147Asn)
c.3374G>A (p.Ser1125Asn)
c.2787G>A (n.2787G>A)
c.2846G>A (p.Ser949Asn)
c.3443G>A (p.Ser1148Asn)
c.2948G>A (p.Ser983Asn)
c.3461G>A (p.Ser1154Asn)
c.3179G>A (p.Ser1060Asn)
c.3323G>A (p.Ser1108Asn)
c.3320G>A (p.Ser1107Asn)
c.3182G>A (p.Ser1061Asn)
c.2855G>A (p.Ser952Asn)
c.2852G>A (p.Ser951Asn)
c.2951G>A (p.Ser984Asn)
c.*2879G>A (n.*2879G>A)
c.2106+182520G>A (n.2106+182520G>A)
c.601G>A
3g.184327227G>CCA355413895EIF2B5,EIF4G1c.3440G>C (p.Ser1147Thr)
c.3374G>C (p.Ser1125Thr)
c.2787G>C (n.2787G>C)
c.2846G>C (p.Ser949Thr)
c.3443G>C (p.Ser1148Thr)
c.2948G>C (p.Ser983Thr)
c.3461G>C (p.Ser1154Thr)
c.3179G>C (p.Ser1060Thr)
c.3323G>C (p.Ser1108Thr)
c.3320G>C (p.Ser1107Thr)
c.3182G>C (p.Ser1061Thr)
c.2855G>C (p.Ser952Thr)
c.2852G>C (p.Ser951Thr)
c.2951G>C (p.Ser984Thr)
c.*2879G>C (n.*2879G>C)
c.2106+182520G>C (n.2106+182520G>C)
c.601G>C
3g.184327227G>TCA355413897EIF2B5,EIF4G1c.3440G>T (p.Ser1147Ile)
c.3374G>T (p.Ser1125Ile)
c.2787G>T (n.2787G>T)
c.2846G>T (p.Ser949Ile)
c.3443G>T (p.Ser1148Ile)
c.2948G>T (p.Ser983Ile)
c.3461G>T (p.Ser1154Ile)
c.3179G>T (p.Ser1060Ile)
c.3323G>T (p.Ser1108Ile)
c.3320G>T (p.Ser1107Ile)
c.3182G>T (p.Ser1061Ile)
c.2855G>T (p.Ser952Ile)
c.2852G>T (p.Ser951Ile)
c.2951G>T (p.Ser984Ile)
c.*2879G>T (n.*2879G>T)
c.2106+182520G>T (n.2106+182520G>T)
c.601G>T
3g.184327228C>ACA355413899EIF2B5,EIF4G1c.3441C>A (p.Ser1147Arg)
c.3375C>A (p.Ser1125Arg)
c.2788C>A (n.2788C>A)
c.2847C>A (p.Ser949Arg)
c.3444C>A (p.Ser1148Arg)
c.2949C>A (p.Ser983Arg)
c.3462C>A (p.Ser1154Arg)
c.3180C>A (p.Ser1060Arg)
c.3324C>A (p.Ser1108Arg)
c.3321C>A (p.Ser1107Arg)
c.3183C>A (p.Ser1061Arg)
c.2856C>A (p.Ser952Arg)
c.2853C>A (p.Ser951Arg)
c.2952C>A (p.Ser984Arg)
c.*2880C>A (n.*2880C>A)
c.2106+182521C>A (n.2106+182521C>A)
c.602C>A
3g.184327228C=CA1425958117EIF2B5,EIF4G1c.3441C= (p.Ser1147=)
c.3375C= (p.Ser1125=)
c.2788C= (n.2788C=)
c.2847C= (p.Ser949=)
c.3444C= (p.Ser1148=)
c.2949C= (p.Ser983=)
c.3462C= (p.Ser1154=)
c.3180C= (p.Ser1060=)
c.3324C= (p.Ser1108=)
c.3321C= (p.Ser1107=)
c.3183C= (p.Ser1061=)
c.2856C= (p.Ser952=)
c.2853C= (p.Ser951=)
c.2952C= (p.Ser984=)
c.*2880C= (n.*2880C=)
c.2106+182521C= (n.2106+182521C=)
c.602C=
3g.184327228C>GCA355413902EIF2B5,EIF4G1c.3441C>G (p.Ser1147Arg)
c.3375C>G (p.Ser1125Arg)
c.2788C>G (n.2788C>G)
c.2847C>G (p.Ser949Arg)
c.3444C>G (p.Ser1148Arg)
c.2949C>G (p.Ser983Arg)
c.3462C>G (p.Ser1154Arg)
c.3180C>G (p.Ser1060Arg)
c.3324C>G (p.Ser1108Arg)
c.3321C>G (p.Ser1107Arg)
c.3183C>G (p.Ser1061Arg)
c.2856C>G (p.Ser952Arg)
c.2853C>G (p.Ser951Arg)
c.2952C>G (p.Ser984Arg)
c.*2880C>G (n.*2880C>G)
c.2106+182521C>G (n.2106+182521C>G)
c.602C>G
3g.184327228C>TCA437330255EIF2B5,EIF4G1c.3441C>T (p.Ser1147=)
c.3375C>T (p.Ser1125=)
c.2788C>T (n.2788C>T)
c.2847C>T (p.Ser949=)
c.3444C>T (p.Ser1148=)
c.2949C>T (p.Ser983=)
c.3462C>T (p.Ser1154=)
c.3180C>T (p.Ser1060=)
c.3324C>T (p.Ser1108=)
c.3321C>T (p.Ser1107=)
c.3183C>T (p.Ser1061=)
c.2856C>T (p.Ser952=)
c.2853C>T (p.Ser951=)
c.2952C>T (p.Ser984=)
c.*2880C>T (n.*2880C>T)
c.2106+182521C>T (n.2106+182521C>T)
c.602C>T
 dbSNP gnomAD v3 gnomAD v4
3g.184327229C>ACA437330256EIF2B5,EIF4G1c.3442C>A (p.Arg1148=)
c.3376C>A (p.Arg1126=)
c.2789C>A (n.2789C>A)
c.2848C>A (p.Arg950=)
c.3445C>A (p.Arg1149=)
c.2950C>A (p.Arg984=)
c.3463C>A (p.Arg1155=)
c.3181C>A (p.Arg1061=)
c.3325C>A (p.Arg1109=)
c.3322C>A (p.Arg1108=)
c.3184C>A (p.Arg1062=)
c.2857C>A (p.Arg953=)
c.2854C>A (p.Arg952=)
c.2953C>A (p.Arg985=)
c.*2881C>A (n.*2881C>A)
c.2106+182522C>A (n.2106+182522C>A)
c.603C>A
3g.184327229C>GCA355413906EIF2B5,EIF4G1c.3442C>G (p.Arg1148Gly)
c.3376C>G (p.Arg1126Gly)
c.2789C>G (n.2789C>G)
c.2848C>G (p.Arg950Gly)
c.3445C>G (p.Arg1149Gly)
c.2950C>G (p.Arg984Gly)
c.3463C>G (p.Arg1155Gly)
c.3181C>G (p.Arg1061Gly)
c.3325C>G (p.Arg1109Gly)
c.3322C>G (p.Arg1108Gly)
c.3184C>G (p.Arg1062Gly)
c.2857C>G (p.Arg953Gly)
c.2854C>G (p.Arg952Gly)
c.2953C>G (p.Arg985Gly)
c.*2881C>G (n.*2881C>G)
c.2106+182522C>G (n.2106+182522C>G)
c.603C>G
3g.184327229C>TCA355413904EIF2B5,EIF4G1c.3442C>T (p.Arg1148Ter)
c.3376C>T (p.Arg1126Ter)
c.2789C>T (n.2789C>T)
c.2848C>T (p.Arg950Ter)
c.3445C>T (p.Arg1149Ter)
c.2950C>T (p.Arg984Ter)
c.3463C>T (p.Arg1155Ter)
c.3181C>T (p.Arg1061Ter)
c.3325C>T (p.Arg1109Ter)
c.3322C>T (p.Arg1108Ter)
c.3184C>T (p.Arg1062Ter)
c.2857C>T (p.Arg953Ter)
c.2854C>T (p.Arg952Ter)
c.2953C>T (p.Arg985Ter)
c.*2881C>T (n.*2881C>T)
c.2106+182522C>T (n.2106+182522C>T)
c.603C>T
3g.184327230G>ACA2732811EIF2B5,EIF4G1c.3443G>A (p.Arg1148Gln)
c.3377G>A (p.Arg1126Gln)
c.2790G>A (n.2790G>A)
c.2849G>A (p.Arg950Gln)
c.3446G>A (p.Arg1149Gln)
c.2951G>A (p.Arg984Gln)
c.3464G>A (p.Arg1155Gln)
c.3182G>A (p.Arg1061Gln)
c.3326G>A (p.Arg1109Gln)
c.3323G>A (p.Arg1108Gln)
c.3185G>A (p.Arg1062Gln)
c.2858G>A (p.Arg953Gln)
c.2855G>A (p.Arg952Gln)
c.2954G>A (p.Arg985Gln)
c.*2882G>A (n.*2882G>A)
c.2106+182523G>A (n.2106+182523G>A)
c.604G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327230G>CCA355413910EIF2B5,EIF4G1c.3443G>C (p.Arg1148Pro)
c.3377G>C (p.Arg1126Pro)
c.2790G>C (n.2790G>C)
c.2849G>C (p.Arg950Pro)
c.3446G>C (p.Arg1149Pro)
c.2951G>C (p.Arg984Pro)
c.3464G>C (p.Arg1155Pro)
c.3182G>C (p.Arg1061Pro)
c.3326G>C (p.Arg1109Pro)
c.3323G>C (p.Arg1108Pro)
c.3185G>C (p.Arg1062Pro)
c.2858G>C (p.Arg953Pro)
c.2855G>C (p.Arg952Pro)
c.2954G>C (p.Arg985Pro)
c.*2882G>C (n.*2882G>C)
c.2106+182523G>C (n.2106+182523G>C)
c.604G>C
3g.184327230G=CA1425958120EIF2B5,EIF4G1c.3443G= (p.Arg1148=)
c.3377G= (p.Arg1126=)
c.2790G= (n.2790G=)
c.2849G= (p.Arg950=)
c.3446G= (p.Arg1149=)
c.2951G= (p.Arg984=)
c.3464G= (p.Arg1155=)
c.3182G= (p.Arg1061=)
c.3326G= (p.Arg1109=)
c.3323G= (p.Arg1108=)
c.3185G= (p.Arg1062=)
c.2858G= (p.Arg953=)
c.2855G= (p.Arg952=)
c.2954G= (p.Arg985=)
c.*2882G= (n.*2882G=)
c.2106+182523G= (n.2106+182523G=)
c.604G=
3g.184327230G>TCA355413912EIF2B5,EIF4G1c.3443G>T (p.Arg1148Leu)
c.3377G>T (p.Arg1126Leu)
c.2790G>T (n.2790G>T)
c.2849G>T (p.Arg950Leu)
c.3446G>T (p.Arg1149Leu)
c.2951G>T (p.Arg984Leu)
c.3464G>T (p.Arg1155Leu)
c.3182G>T (p.Arg1061Leu)
c.3326G>T (p.Arg1109Leu)
c.3323G>T (p.Arg1108Leu)
c.3185G>T (p.Arg1062Leu)
c.2858G>T (p.Arg953Leu)
c.2855G>T (p.Arg952Leu)
c.2954G>T (p.Arg985Leu)
c.*2882G>T (n.*2882G>T)
c.2106+182523G>T (n.2106+182523G>T)
c.604G>T
3g.184327234_184327254delCA2668840285EIF2B5,EIF4G1c.3447_3467del (p.Glu1149_Gly1155del)
c.3381_3401del (p.Glu1127_Gly1133del)
c.2794_2814del (n.2794_2814del)
c.2853_2873del (p.Glu951_Gly957del)
c.3450_3470del (p.Glu1150_Gly1156del)
c.2955_2975del (p.Glu985_Gly991del)
c.3468_3488del (p.Glu1156_Gly1162del)
c.3186_3206del (p.Glu1062_Gly1068del)
c.3330_3350del (p.Glu1110_Gly1116del)
c.3327_3347del (p.Glu1109_Gly1115del)
c.3189_3209del (p.Glu1063_Gly1069del)
c.2862_2882del (p.Glu954_Gly960del)
c.2859_2879del (p.Glu953_Gly959del)
c.2958_2978del (p.Glu986_Gly992del)
c.*2886_*2906del (n.*2886_*2906del)
c.2106+182527_2106+182547del (n.2106+182527_2106+182547del)
c.608_628del
 gnomAD v4
3g.184327231A>CCA437330257EIF2B5,EIF4G1c.3444A>C (p.Arg1148=)
c.3378A>C (p.Arg1126=)
c.2791A>C (n.2791A>C)
c.2850A>C (p.Arg950=)
c.3447A>C (p.Arg1149=)
c.2952A>C (p.Arg984=)
c.3465A>C (p.Arg1155=)
c.3183A>C (p.Arg1061=)
c.3327A>C (p.Arg1109=)
c.3324A>C (p.Arg1108=)
c.3186A>C (p.Arg1062=)
c.2859A>C (p.Arg953=)
c.2856A>C (p.Arg952=)
c.2955A>C (p.Arg985=)
c.*2883A>C (n.*2883A>C)
c.2106+182524A>C (n.2106+182524A>C)
c.605A>C
3g.184327231A>GCA437330258EIF2B5,EIF4G1c.3444A>G (p.Arg1148=)
c.3378A>G (p.Arg1126=)
c.2791A>G (n.2791A>G)
c.2850A>G (p.Arg950=)
c.3447A>G (p.Arg1149=)
c.2952A>G (p.Arg984=)
c.3465A>G (p.Arg1155=)
c.3183A>G (p.Arg1061=)
c.3327A>G (p.Arg1109=)
c.3324A>G (p.Arg1108=)
c.3186A>G (p.Arg1062=)
c.2859A>G (p.Arg953=)
c.2856A>G (p.Arg952=)
c.2955A>G (p.Arg985=)
c.*2883A>G (n.*2883A>G)
c.2106+182524A>G (n.2106+182524A>G)
c.605A>G
3g.184327231A>TCA437330259EIF2B5,EIF4G1c.3444A>T (p.Arg1148=)
c.3378A>T (p.Arg1126=)
c.2791A>T (n.2791A>T)
c.2850A>T (p.Arg950=)
c.3447A>T (p.Arg1149=)
c.2952A>T (p.Arg984=)
c.3465A>T (p.Arg1155=)
c.3183A>T (p.Arg1061=)
c.3327A>T (p.Arg1109=)
c.3324A>T (p.Arg1108=)
c.3186A>T (p.Arg1062=)
c.2859A>T (p.Arg953=)
c.2856A>T (p.Arg952=)
c.2955A>T (p.Arg985=)
c.*2883A>T (n.*2883A>T)
c.2106+182524A>T (n.2106+182524A>T)
c.605A>T
3g.184327232G>ACA355413915EIF2B5,EIF4G1c.3445G>A (p.Glu1149Lys)
c.3379G>A (p.Glu1127Lys)
c.2792G>A (n.2792G>A)
c.2851G>A (p.Glu951Lys)
c.3448G>A (p.Glu1150Lys)
c.2953G>A (p.Glu985Lys)
c.3466G>A (p.Glu1156Lys)
c.3184G>A (p.Glu1062Lys)
c.3328G>A (p.Glu1110Lys)
c.3325G>A (p.Glu1109Lys)
c.3187G>A (p.Glu1063Lys)
c.2860G>A (p.Glu954Lys)
c.2857G>A (p.Glu953Lys)
c.2956G>A (p.Glu986Lys)
c.*2884G>A (n.*2884G>A)
c.2106+182525G>A (n.2106+182525G>A)
c.606G>A
3g.184327232G>CCA355413917EIF2B5,EIF4G1c.3445G>C (p.Glu1149Gln)
c.3379G>C (p.Glu1127Gln)
c.2792G>C (n.2792G>C)
c.2851G>C (p.Glu951Gln)
c.3448G>C (p.Glu1150Gln)
c.2953G>C (p.Glu985Gln)
c.3466G>C (p.Glu1156Gln)
c.3184G>C (p.Glu1062Gln)
c.3328G>C (p.Glu1110Gln)
c.3325G>C (p.Glu1109Gln)
c.3187G>C (p.Glu1063Gln)
c.2860G>C (p.Glu954Gln)
c.2857G>C (p.Glu953Gln)
c.2956G>C (p.Glu986Gln)
c.*2884G>C (n.*2884G>C)
c.2106+182525G>C (n.2106+182525G>C)
c.606G>C
 COSMIC
3g.184327232G>TCA355413919EIF2B5,EIF4G1c.3445G>T (p.Glu1149Ter)
c.3379G>T (p.Glu1127Ter)
c.2792G>T (n.2792G>T)
c.2851G>T (p.Glu951Ter)
c.3448G>T (p.Glu1150Ter)
c.2953G>T (p.Glu985Ter)
c.3466G>T (p.Glu1156Ter)
c.3184G>T (p.Glu1062Ter)
c.3328G>T (p.Glu1110Ter)
c.3325G>T (p.Glu1109Ter)
c.3187G>T (p.Glu1063Ter)
c.2860G>T (p.Glu954Ter)
c.2857G>T (p.Glu953Ter)
c.2956G>T (p.Glu986Ter)
c.*2884G>T (n.*2884G>T)
c.2106+182525G>T (n.2106+182525G>T)
c.606G>T
3g.184327233A>CCA355413922EIF2B5,EIF4G1c.3446A>C (p.Glu1149Ala)
c.3380A>C (p.Glu1127Ala)
c.2793A>C (n.2793A>C)
c.2852A>C (p.Glu951Ala)
c.3449A>C (p.Glu1150Ala)
c.2954A>C (p.Glu985Ala)
c.3467A>C (p.Glu1156Ala)
c.3185A>C (p.Glu1062Ala)
c.3329A>C (p.Glu1110Ala)
c.3326A>C (p.Glu1109Ala)
c.3188A>C (p.Glu1063Ala)
c.2861A>C (p.Glu954Ala)
c.2858A>C (p.Glu953Ala)
c.2957A>C (p.Glu986Ala)
c.*2885A>C (n.*2885A>C)
c.2106+182526A>C (n.2106+182526A>C)
c.607A>C
3g.184327233A>GCA355413924EIF2B5,EIF4G1c.3446A>G (p.Glu1149Gly)
c.3380A>G (p.Glu1127Gly)
c.2793A>G (n.2793A>G)
c.2852A>G (p.Glu951Gly)
c.3449A>G (p.Glu1150Gly)
c.2954A>G (p.Glu985Gly)
c.3467A>G (p.Glu1156Gly)
c.3185A>G (p.Glu1062Gly)
c.3329A>G (p.Glu1110Gly)
c.3326A>G (p.Glu1109Gly)
c.3188A>G (p.Glu1063Gly)
c.2861A>G (p.Glu954Gly)
c.2858A>G (p.Glu953Gly)
c.2957A>G (p.Glu986Gly)
c.*2885A>G (n.*2885A>G)
c.2106+182526A>G (n.2106+182526A>G)
c.607A>G
3g.184327233A>TCA355413926EIF2B5,EIF4G1c.3446A>T (p.Glu1149Val)
c.3380A>T (p.Glu1127Val)
c.2793A>T (n.2793A>T)
c.2852A>T (p.Glu951Val)
c.3449A>T (p.Glu1150Val)
c.2954A>T (p.Glu985Val)
c.3467A>T (p.Glu1156Val)
c.3185A>T (p.Glu1062Val)
c.3329A>T (p.Glu1110Val)
c.3326A>T (p.Glu1109Val)
c.3188A>T (p.Glu1063Val)
c.2861A>T (p.Glu954Val)
c.2858A>T (p.Glu953Val)
c.2957A>T (p.Glu986Val)
c.*2885A>T (n.*2885A>T)
c.2106+182526A>T (n.2106+182526A>T)
c.607A>T
3g.184327234A>CCA355413928EIF2B5,EIF4G1c.3447A>C (p.Glu1149Asp)
c.3381A>C (p.Glu1127Asp)
c.2794A>C (n.2794A>C)
c.2853A>C (p.Glu951Asp)
c.3450A>C (p.Glu1150Asp)
c.2955A>C (p.Glu985Asp)
c.3468A>C (p.Glu1156Asp)
c.3186A>C (p.Glu1062Asp)
c.3330A>C (p.Glu1110Asp)
c.3327A>C (p.Glu1109Asp)
c.3189A>C (p.Glu1063Asp)
c.2862A>C (p.Glu954Asp)
c.2859A>C (p.Glu953Asp)
c.2958A>C (p.Glu986Asp)
c.*2886A>C (n.*2886A>C)
c.2106+182527A>C (n.2106+182527A>C)
c.608A>C
3g.184327234A>GCA437330266EIF2B5,EIF4G1c.3447A>G (p.Glu1149=)
c.3381A>G (p.Glu1127=)
c.2794A>G (n.2794A>G)
c.2853A>G (p.Glu951=)
c.3450A>G (p.Glu1150=)
c.2955A>G (p.Glu985=)
c.3468A>G (p.Glu1156=)
c.3186A>G (p.Glu1062=)
c.3330A>G (p.Glu1110=)
c.3327A>G (p.Glu1109=)
c.3189A>G (p.Glu1063=)
c.2862A>G (p.Glu954=)
c.2859A>G (p.Glu953=)
c.2958A>G (p.Glu986=)
c.*2886A>G (n.*2886A>G)
c.2106+182527A>G (n.2106+182527A>G)
c.608A>G
3g.184327234A>TCA355413931EIF2B5,EIF4G1c.3447A>T (p.Glu1149Asp)
c.3381A>T (p.Glu1127Asp)
c.2794A>T (n.2794A>T)
c.2853A>T (p.Glu951Asp)
c.3450A>T (p.Glu1150Asp)
c.2955A>T (p.Glu985Asp)
c.3468A>T (p.Glu1156Asp)
c.3186A>T (p.Glu1062Asp)
c.3330A>T (p.Glu1110Asp)
c.3327A>T (p.Glu1109Asp)
c.3189A>T (p.Glu1063Asp)
c.2862A>T (p.Glu954Asp)
c.2859A>T (p.Glu953Asp)
c.2958A>T (p.Glu986Asp)
c.*2886A>T (n.*2886A>T)
c.2106+182527A>T (n.2106+182527A>T)
c.608A>T
3g.184327235C>ACA437330267EIF2B5,EIF4G1c.3448C>A (p.Arg1150=)
c.3382C>A (p.Arg1128=)
c.2795C>A (n.2795C>A)
c.2854C>A (p.Arg952=)
c.3451C>A (p.Arg1151=)
c.2956C>A (p.Arg986=)
c.3469C>A (p.Arg1157=)
c.3187C>A (p.Arg1063=)
c.3331C>A (p.Arg1111=)
c.3328C>A (p.Arg1110=)
c.3190C>A (p.Arg1064=)
c.2863C>A (p.Arg955=)
c.2860C>A (p.Arg954=)
c.2959C>A (p.Arg987=)
c.*2887C>A (n.*2887C>A)
c.2106+182528C>A (n.2106+182528C>A)
c.609C>A
3g.184327235C=CA1425958123EIF2B5,EIF4G1c.3448C= (p.Arg1150=)
c.3382C= (p.Arg1128=)
c.2795C= (n.2795C=)
c.2854C= (p.Arg952=)
c.3451C= (p.Arg1151=)
c.2956C= (p.Arg986=)
c.3469C= (p.Arg1157=)
c.3187C= (p.Arg1063=)
c.3331C= (p.Arg1111=)
c.3328C= (p.Arg1110=)
c.3190C= (p.Arg1064=)
c.2863C= (p.Arg955=)
c.2860C= (p.Arg954=)
c.2959C= (p.Arg987=)
c.*2887C= (n.*2887C=)
c.2106+182528C= (n.2106+182528C=)
c.609C=
3g.184327235C>GCA2732812EIF2B5,EIF4G1c.3448C>G (p.Arg1150Gly)
c.3382C>G (p.Arg1128Gly)
c.2795C>G (n.2795C>G)
c.2854C>G (p.Arg952Gly)
c.3451C>G (p.Arg1151Gly)
c.2956C>G (p.Arg986Gly)
c.3469C>G (p.Arg1157Gly)
c.3187C>G (p.Arg1063Gly)
c.3331C>G (p.Arg1111Gly)
c.3328C>G (p.Arg1110Gly)
c.3190C>G (p.Arg1064Gly)
c.2863C>G (p.Arg955Gly)
c.2860C>G (p.Arg954Gly)
c.2959C>G (p.Arg987Gly)
c.*2887C>G (n.*2887C>G)
c.2106+182528C>G (n.2106+182528C>G)
c.609C>G
 dbSNP ExAC
3g.184327235C>TCA355413935EIF2B5,EIF4G1c.3448C>T (p.Arg1150Ter)
c.3382C>T (p.Arg1128Ter)
c.2795C>T (n.2795C>T)
c.2854C>T (p.Arg952Ter)
c.3451C>T (p.Arg1151Ter)
c.2956C>T (p.Arg986Ter)
c.3469C>T (p.Arg1157Ter)
c.3187C>T (p.Arg1063Ter)
c.3331C>T (p.Arg1111Ter)
c.3328C>T (p.Arg1110Ter)
c.3190C>T (p.Arg1064Ter)
c.2863C>T (p.Arg955Ter)
c.2860C>T (p.Arg954Ter)
c.2959C>T (p.Arg987Ter)
c.*2887C>T (n.*2887C>T)
c.2106+182528C>T (n.2106+182528C>T)
c.609C>T
3g.184327236G>ACA2732813EIF2B5,EIF4G1c.3449G>A (p.Arg1150Gln)
c.3383G>A (p.Arg1128Gln)
c.2796G>A (n.2796G>A)
c.2855G>A (p.Arg952Gln)
c.3452G>A (p.Arg1151Gln)
c.2957G>A (p.Arg986Gln)
c.3470G>A (p.Arg1157Gln)
c.3188G>A (p.Arg1063Gln)
c.3332G>A (p.Arg1111Gln)
c.3329G>A (p.Arg1110Gln)
c.3191G>A (p.Arg1064Gln)
c.2864G>A (p.Arg955Gln)
c.2861G>A (p.Arg954Gln)
c.2960G>A (p.Arg987Gln)
c.*2888G>A (n.*2888G>A)
c.2106+182529G>A (n.2106+182529G>A)
c.610G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327236G>CCA355413942EIF2B5,EIF4G1c.3449G>C (p.Arg1150Pro)
c.3383G>C (p.Arg1128Pro)
c.2796G>C (n.2796G>C)
c.2855G>C (p.Arg952Pro)
c.3452G>C (p.Arg1151Pro)
c.2957G>C (p.Arg986Pro)
c.3470G>C (p.Arg1157Pro)
c.3188G>C (p.Arg1063Pro)
c.3332G>C (p.Arg1111Pro)
c.3329G>C (p.Arg1110Pro)
c.3191G>C (p.Arg1064Pro)
c.2864G>C (p.Arg955Pro)
c.2861G>C (p.Arg954Pro)
c.2960G>C (p.Arg987Pro)
c.*2888G>C (n.*2888G>C)
c.2106+182529G>C (n.2106+182529G>C)
c.610G>C
3g.184327236G=CA1425958126EIF2B5,EIF4G1c.3449G= (p.Arg1150=)
c.3383G= (p.Arg1128=)
c.2796G= (n.2796G=)
c.2855G= (p.Arg952=)
c.3452G= (p.Arg1151=)
c.2957G= (p.Arg986=)
c.3470G= (p.Arg1157=)
c.3188G= (p.Arg1063=)
c.3332G= (p.Arg1111=)
c.3329G= (p.Arg1110=)
c.3191G= (p.Arg1064=)
c.2864G= (p.Arg955=)
c.2861G= (p.Arg954=)
c.2960G= (p.Arg987=)
c.*2888G= (n.*2888G=)
c.2106+182529G= (n.2106+182529G=)
c.610G=
3g.184327236G>TCA355413944EIF2B5,EIF4G1c.3449G>T (p.Arg1150Leu)
c.3383G>T (p.Arg1128Leu)
c.2796G>T (n.2796G>T)
c.2855G>T (p.Arg952Leu)
c.3452G>T (p.Arg1151Leu)
c.2957G>T (p.Arg986Leu)
c.3470G>T (p.Arg1157Leu)
c.3188G>T (p.Arg1063Leu)
c.3332G>T (p.Arg1111Leu)
c.3329G>T (p.Arg1110Leu)
c.3191G>T (p.Arg1064Leu)
c.2864G>T (p.Arg955Leu)
c.2861G>T (p.Arg954Leu)
c.2960G>T (p.Arg987Leu)
c.*2888G>T (n.*2888G>T)
c.2106+182529G>T (n.2106+182529G>T)
c.610G>T
 gnomAD v4
3g.184327237A>CCA437330272EIF2B5,EIF4G1c.3450A>C (p.Arg1150=)
c.3384A>C (p.Arg1128=)
c.2797A>C (n.2797A>C)
c.2856A>C (p.Arg952=)
c.3453A>C (p.Arg1151=)
c.2958A>C (p.Arg986=)
c.3471A>C (p.Arg1157=)
c.3189A>C (p.Arg1063=)
c.3333A>C (p.Arg1111=)
c.3330A>C (p.Arg1110=)
c.3192A>C (p.Arg1064=)
c.2865A>C (p.Arg955=)
c.2862A>C (p.Arg954=)
c.2961A>C (p.Arg987=)
c.*2889A>C (n.*2889A>C)
c.2106+182530A>C (n.2106+182530A>C)
c.611A>C
3g.184327237A>GCA437330270EIF2B5,EIF4G1c.3450A>G (p.Arg1150=)
c.3384A>G (p.Arg1128=)
c.2797A>G (n.2797A>G)
c.2856A>G (p.Arg952=)
c.3453A>G (p.Arg1151=)
c.2958A>G (p.Arg986=)
c.3471A>G (p.Arg1157=)
c.3189A>G (p.Arg1063=)
c.3333A>G (p.Arg1111=)
c.3330A>G (p.Arg1110=)
c.3192A>G (p.Arg1064=)
c.2865A>G (p.Arg955=)
c.2862A>G (p.Arg954=)
c.2961A>G (p.Arg987=)
c.*2889A>G (n.*2889A>G)
c.2106+182530A>G (n.2106+182530A>G)
c.611A>G
3g.184327237A>TCA437330269EIF2B5,EIF4G1c.3450A>T (p.Arg1150=)
c.3384A>T (p.Arg1128=)
c.2797A>T (n.2797A>T)
c.2856A>T (p.Arg952=)
c.3453A>T (p.Arg1151=)
c.2958A>T (p.Arg986=)
c.3471A>T (p.Arg1157=)
c.3189A>T (p.Arg1063=)
c.3333A>T (p.Arg1111=)
c.3330A>T (p.Arg1110=)
c.3192A>T (p.Arg1064=)
c.2865A>T (p.Arg955=)
c.2862A>T (p.Arg954=)
c.2961A>T (p.Arg987=)
c.*2889A>T (n.*2889A>T)
c.2106+182530A>T (n.2106+182530A>T)
c.611A>T
3g.184327238G>ACA355413946EIF2B5,EIF4G1c.3451G>A (p.Gly1151Ser)
c.3385G>A (p.Gly1129Ser)
c.2798G>A (n.2798G>A)
c.2857G>A (p.Gly953Ser)
c.3454G>A (p.Gly1152Ser)
c.2959G>A (p.Gly987Ser)
c.3472G>A (p.Gly1158Ser)
c.3190G>A (p.Gly1064Ser)
c.3334G>A (p.Gly1112Ser)
c.3331G>A (p.Gly1111Ser)
c.3193G>A (p.Gly1065Ser)
c.2866G>A (p.Gly956Ser)
c.2863G>A (p.Gly955Ser)
c.2962G>A (p.Gly988Ser)
c.*2890G>A (n.*2890G>A)
c.2106+182531G>A (n.2106+182531G>A)
c.612G>A
 gnomAD v4
3g.184327238G>CCA355413954EIF2B5,EIF4G1c.3451G>C (p.Gly1151Arg)
c.3385G>C (p.Gly1129Arg)
c.2798G>C (n.2798G>C)
c.2857G>C (p.Gly953Arg)
c.3454G>C (p.Gly1152Arg)
c.2959G>C (p.Gly987Arg)
c.3472G>C (p.Gly1158Arg)
c.3190G>C (p.Gly1064Arg)
c.3334G>C (p.Gly1112Arg)
c.3331G>C (p.Gly1111Arg)
c.3193G>C (p.Gly1065Arg)
c.2866G>C (p.Gly956Arg)
c.2863G>C (p.Gly955Arg)
c.2962G>C (p.Gly988Arg)
c.*2890G>C (n.*2890G>C)
c.2106+182531G>C (n.2106+182531G>C)
c.612G>C
3g.184327238G>TCA355413957EIF2B5,EIF4G1c.3451G>T (p.Gly1151Cys)
c.3385G>T (p.Gly1129Cys)
c.2798G>T (n.2798G>T)
c.2857G>T (p.Gly953Cys)
c.3454G>T (p.Gly1152Cys)
c.2959G>T (p.Gly987Cys)
c.3472G>T (p.Gly1158Cys)
c.3190G>T (p.Gly1064Cys)
c.3334G>T (p.Gly1112Cys)
c.3331G>T (p.Gly1111Cys)
c.3193G>T (p.Gly1065Cys)
c.2866G>T (p.Gly956Cys)
c.2863G>T (p.Gly955Cys)
c.2962G>T (p.Gly988Cys)
c.*2890G>T (n.*2890G>T)
c.2106+182531G>T (n.2106+182531G>T)
c.612G>T
3g.184327239G>ACA355413959EIF2B5,EIF4G1c.3452G>A (p.Gly1151Asp)
c.3386G>A (p.Gly1129Asp)
c.2799G>A (n.2799G>A)
c.2858G>A (p.Gly953Asp)
c.3455G>A (p.Gly1152Asp)
c.2960G>A (p.Gly987Asp)
c.3473G>A (p.Gly1158Asp)
c.3191G>A (p.Gly1064Asp)
c.3335G>A (p.Gly1112Asp)
c.3332G>A (p.Gly1111Asp)
c.3194G>A (p.Gly1065Asp)
c.2867G>A (p.Gly956Asp)
c.2864G>A (p.Gly955Asp)
c.2963G>A (p.Gly988Asp)
c.*2891G>A (n.*2891G>A)
c.2106+182532G>A (n.2106+182532G>A)
c.613G>A
 dbSNP COSMIC
3g.184327239G>CCA355413962EIF2B5,EIF4G1c.3452G>C (p.Gly1151Ala)
c.3386G>C (p.Gly1129Ala)
c.2799G>C (n.2799G>C)
c.2858G>C (p.Gly953Ala)
c.3455G>C (p.Gly1152Ala)
c.2960G>C (p.Gly987Ala)
c.3473G>C (p.Gly1158Ala)
c.3191G>C (p.Gly1064Ala)
c.3335G>C (p.Gly1112Ala)
c.3332G>C (p.Gly1111Ala)
c.3194G>C (p.Gly1065Ala)
c.2867G>C (p.Gly956Ala)
c.2864G>C (p.Gly955Ala)
c.2963G>C (p.Gly988Ala)
c.*2891G>C (n.*2891G>C)
c.2106+182532G>C (n.2106+182532G>C)
c.613G>C
3g.184327239G=CA1425958127EIF2B5,EIF4G1c.3452G= (p.Gly1151=)
c.3386G= (p.Gly1129=)
c.2799G= (n.2799G=)
c.2858G= (p.Gly953=)
c.3455G= (p.Gly1152=)
c.2960G= (p.Gly987=)
c.3473G= (p.Gly1158=)
c.3191G= (p.Gly1064=)
c.3335G= (p.Gly1112=)
c.3332G= (p.Gly1111=)
c.3194G= (p.Gly1065=)
c.2867G= (p.Gly956=)
c.2864G= (p.Gly955=)
c.2963G= (p.Gly988=)
c.*2891G= (n.*2891G=)
c.2106+182532G= (n.2106+182532G=)
c.613G=
3g.184327239G>TCA355413964EIF2B5,EIF4G1c.3452G>T (p.Gly1151Val)
c.3386G>T (p.Gly1129Val)
c.2799G>T (n.2799G>T)
c.2858G>T (p.Gly953Val)
c.3455G>T (p.Gly1152Val)
c.2960G>T (p.Gly987Val)
c.3473G>T (p.Gly1158Val)
c.3191G>T (p.Gly1064Val)
c.3335G>T (p.Gly1112Val)
c.3332G>T (p.Gly1111Val)
c.3194G>T (p.Gly1065Val)
c.2867G>T (p.Gly956Val)
c.2864G>T (p.Gly955Val)
c.2963G>T (p.Gly988Val)
c.*2891G>T (n.*2891G>T)
c.2106+182532G>T (n.2106+182532G>T)
c.613G>T
3g.184327240C>ACA437330274EIF2B5,EIF4G1c.3453C>A (p.Gly1151=)
c.3387C>A (p.Gly1129=)
c.2800C>A (n.2800C>A)
c.2859C>A (p.Gly953=)
c.3456C>A (p.Gly1152=)
c.2961C>A (p.Gly987=)
c.3474C>A (p.Gly1158=)
c.3192C>A (p.Gly1064=)
c.3336C>A (p.Gly1112=)
c.3333C>A (p.Gly1111=)
c.3195C>A (p.Gly1065=)
c.2868C>A (p.Gly956=)
c.2865C>A (p.Gly955=)
c.2964C>A (p.Gly988=)
c.*2892C>A (n.*2892C>A)
c.2106+182533C>A (n.2106+182533C>A)
c.614C>A
3g.184327240C=CA1425958131EIF2B5,EIF4G1c.3453C= (p.Gly1151=)
c.3387C= (p.Gly1129=)
c.2800C= (n.2800C=)
c.2859C= (p.Gly953=)
c.3456C= (p.Gly1152=)
c.2961C= (p.Gly987=)
c.3474C= (p.Gly1158=)
c.3192C= (p.Gly1064=)
c.3336C= (p.Gly1112=)
c.3333C= (p.Gly1111=)
c.3195C= (p.Gly1065=)
c.2868C= (p.Gly956=)
c.2865C= (p.Gly955=)
c.2964C= (p.Gly988=)
c.*2892C= (n.*2892C=)
c.2106+182533C= (n.2106+182533C=)
c.614C=
3g.184327240C>GCA2732815EIF2B5,EIF4G1c.3453C>G (p.Gly1151=)
c.3387C>G (p.Gly1129=)
c.2800C>G (n.2800C>G)
c.2859C>G (p.Gly953=)
c.3456C>G (p.Gly1152=)
c.2961C>G (p.Gly987=)
c.3474C>G (p.Gly1158=)
c.3192C>G (p.Gly1064=)
c.3336C>G (p.Gly1112=)
c.3333C>G (p.Gly1111=)
c.3195C>G (p.Gly1065=)
c.2868C>G (p.Gly956=)
c.2865C>G (p.Gly955=)
c.2964C>G (p.Gly988=)
c.*2892C>G (n.*2892C>G)
c.2106+182533C>G (n.2106+182533C>G)
c.614C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327240C>TCA2732814EIF2B5,EIF4G1c.3453C>T (p.Gly1151=)
c.3387C>T (p.Gly1129=)
c.2800C>T (n.2800C>T)
c.2859C>T (p.Gly953=)
c.3456C>T (p.Gly1152=)
c.2961C>T (p.Gly987=)
c.3474C>T (p.Gly1158=)
c.3192C>T (p.Gly1064=)
c.3336C>T (p.Gly1112=)
c.3333C>T (p.Gly1111=)
c.3195C>T (p.Gly1065=)
c.2868C>T (p.Gly956=)
c.2865C>T (p.Gly955=)
c.2964C>T (p.Gly988=)
c.*2892C>T (n.*2892C>T)
c.2106+182533C>T (n.2106+182533C>T)
c.614C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327241G>ACA355413971EIF2B5,EIF4G1c.3454G>A (p.Glu1152Lys)
c.3388G>A (p.Glu1130Lys)
c.2801G>A (n.2801G>A)
c.2860G>A (p.Glu954Lys)
c.3457G>A (p.Glu1153Lys)
c.2962G>A (p.Glu988Lys)
c.3475G>A (p.Glu1159Lys)
c.3193G>A (p.Glu1065Lys)
c.3337G>A (p.Glu1113Lys)
c.3334G>A (p.Glu1112Lys)
c.3196G>A (p.Glu1066Lys)
c.2869G>A (p.Glu957Lys)
c.2866G>A (p.Glu956Lys)
c.2965G>A (p.Glu989Lys)
c.*2893G>A (n.*2893G>A)
c.2106+182534G>A (n.2106+182534G>A)
c.615G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327241G>CCA355413973EIF2B5,EIF4G1c.3454G>C (p.Glu1152Gln)
c.3388G>C (p.Glu1130Gln)
c.2801G>C (n.2801G>C)
c.2860G>C (p.Glu954Gln)
c.3457G>C (p.Glu1153Gln)
c.2962G>C (p.Glu988Gln)
c.3475G>C (p.Glu1159Gln)
c.3193G>C (p.Glu1065Gln)
c.3337G>C (p.Glu1113Gln)
c.3334G>C (p.Glu1112Gln)
c.3196G>C (p.Glu1066Gln)
c.2869G>C (p.Glu957Gln)
c.2866G>C (p.Glu956Gln)
c.2965G>C (p.Glu989Gln)
c.*2893G>C (n.*2893G>C)
c.2106+182534G>C (n.2106+182534G>C)
c.615G>C
3g.184327241G=CA1425958135EIF2B5,EIF4G1c.3454G= (p.Glu1152=)
c.3388G= (p.Glu1130=)
c.2801G= (n.2801G=)
c.2860G= (p.Glu954=)
c.3457G= (p.Glu1153=)
c.2962G= (p.Glu988=)
c.3475G= (p.Glu1159=)
c.3193G= (p.Glu1065=)
c.3337G= (p.Glu1113=)
c.3334G= (p.Glu1112=)
c.3196G= (p.Glu1066=)
c.2869G= (p.Glu957=)
c.2866G= (p.Glu956=)
c.2965G= (p.Glu989=)
c.*2893G= (n.*2893G=)
c.2106+182534G= (n.2106+182534G=)
c.615G=
3g.184327241G>TCA355413975EIF2B5,EIF4G1c.3454G>T (p.Glu1152Ter)
c.3388G>T (p.Glu1130Ter)
c.2801G>T (n.2801G>T)
c.2860G>T (p.Glu954Ter)
c.3457G>T (p.Glu1153Ter)
c.2962G>T (p.Glu988Ter)
c.3475G>T (p.Glu1159Ter)
c.3193G>T (p.Glu1065Ter)
c.3337G>T (p.Glu1113Ter)
c.3334G>T (p.Glu1112Ter)
c.3196G>T (p.Glu1066Ter)
c.2869G>T (p.Glu957Ter)
c.2866G>T (p.Glu956Ter)
c.2965G>T (p.Glu989Ter)
c.*2893G>T (n.*2893G>T)
c.2106+182534G>T (n.2106+182534G>T)
c.615G>T
3g.184327242A>CCA355413984EIF2B5,EIF4G1c.3455A>C (p.Glu1152Ala)
c.3389A>C (p.Glu1130Ala)
c.2802A>C (n.2802A>C)
c.2861A>C (p.Glu954Ala)
c.3458A>C (p.Glu1153Ala)
c.2963A>C (p.Glu988Ala)
c.3476A>C (p.Glu1159Ala)
c.3194A>C (p.Glu1065Ala)
c.3338A>C (p.Glu1113Ala)
c.3335A>C (p.Glu1112Ala)
c.3197A>C (p.Glu1066Ala)
c.2870A>C (p.Glu957Ala)
c.2867A>C (p.Glu956Ala)
c.2966A>C (p.Glu989Ala)
c.*2894A>C (n.*2894A>C)
c.2106+182535A>C (n.2106+182535A>C)
c.616A>C
3g.184327242A>GCA355413981EIF2B5,EIF4G1c.3455A>G (p.Glu1152Gly)
c.3389A>G (p.Glu1130Gly)
c.2802A>G (n.2802A>G)
c.2861A>G (p.Glu954Gly)
c.3458A>G (p.Glu1153Gly)
c.2963A>G (p.Glu988Gly)
c.3476A>G (p.Glu1159Gly)
c.3194A>G (p.Glu1065Gly)
c.3338A>G (p.Glu1113Gly)
c.3335A>G (p.Glu1112Gly)
c.3197A>G (p.Glu1066Gly)
c.2870A>G (p.Glu957Gly)
c.2867A>G (p.Glu956Gly)
c.2966A>G (p.Glu989Gly)
c.*2894A>G (n.*2894A>G)
c.2106+182535A>G (n.2106+182535A>G)
c.616A>G
3g.184327242A>TCA355413979EIF2B5,EIF4G1c.3455A>T (p.Glu1152Val)
c.3389A>T (p.Glu1130Val)
c.2802A>T (n.2802A>T)
c.2861A>T (p.Glu954Val)
c.3458A>T (p.Glu1153Val)
c.2963A>T (p.Glu988Val)
c.3476A>T (p.Glu1159Val)
c.3194A>T (p.Glu1065Val)
c.3338A>T (p.Glu1113Val)
c.3335A>T (p.Glu1112Val)
c.3197A>T (p.Glu1066Val)
c.2870A>T (p.Glu957Val)
c.2867A>T (p.Glu956Val)
c.2966A>T (p.Glu989Val)
c.*2894A>T (n.*2894A>T)
c.2106+182535A>T (n.2106+182535A>T)
c.616A>T
3g.184327243G>ACA437330277EIF2B5,EIF4G1c.3456G>A (p.Glu1152=)
c.3390G>A (p.Glu1130=)
c.2803G>A (n.2803G>A)
c.2862G>A (p.Glu954=)
c.3459G>A (p.Glu1153=)
c.2964G>A (p.Glu988=)
c.3477G>A (p.Glu1159=)
c.3195G>A (p.Glu1065=)
c.3339G>A (p.Glu1113=)
c.3336G>A (p.Glu1112=)
c.3198G>A (p.Glu1066=)
c.2871G>A (p.Glu957=)
c.2868G>A (p.Glu956=)
c.2967G>A (p.Glu989=)
c.*2895G>A (n.*2895G>A)
c.2106+182536G>A (n.2106+182536G>A)
c.617G>A
3g.184327243G>CCA355413987EIF2B5,EIF4G1c.3456G>C (p.Glu1152Asp)
c.3390G>C (p.Glu1130Asp)
c.2803G>C (n.2803G>C)
c.2862G>C (p.Glu954Asp)
c.3459G>C (p.Glu1153Asp)
c.2964G>C (p.Glu988Asp)
c.3477G>C (p.Glu1159Asp)
c.3195G>C (p.Glu1065Asp)
c.3339G>C (p.Glu1113Asp)
c.3336G>C (p.Glu1112Asp)
c.3198G>C (p.Glu1066Asp)
c.2871G>C (p.Glu957Asp)
c.2868G>C (p.Glu956Asp)
c.2967G>C (p.Glu989Asp)
c.*2895G>C (n.*2895G>C)
c.2106+182536G>C (n.2106+182536G>C)
c.617G>C
3g.184327243G>TCA355413989EIF2B5,EIF4G1c.3456G>T (p.Glu1152Asp)
c.3390G>T (p.Glu1130Asp)
c.2803G>T (n.2803G>T)
c.2862G>T (p.Glu954Asp)
c.3459G>T (p.Glu1153Asp)
c.2964G>T (p.Glu988Asp)
c.3477G>T (p.Glu1159Asp)
c.3195G>T (p.Glu1065Asp)
c.3339G>T (p.Glu1113Asp)
c.3336G>T (p.Glu1112Asp)
c.3198G>T (p.Glu1066Asp)
c.2871G>T (p.Glu957Asp)
c.2868G>T (p.Glu956Asp)
c.2967G>T (p.Glu989Asp)
c.*2895G>T (n.*2895G>T)
c.2106+182536G>T (n.2106+182536G>T)
c.617G>T
3g.184327244A=CA1425958138EIF2B5,EIF4G1c.3457A= (p.Lys1153=)
c.3391A= (p.Lys1131=)
c.2804A= (n.2804A=)
c.2863A= (p.Lys955=)
c.3460A= (p.Lys1154=)
c.2965A= (p.Lys989=)
c.3478A= (p.Lys1160=)
c.3196A= (p.Lys1066=)
c.3340A= (p.Lys1114=)
c.3337A= (p.Lys1113=)
c.3199A= (p.Lys1067=)
c.2872A= (p.Lys958=)
c.2869A= (p.Lys957=)
c.2968A= (p.Lys990=)
c.*2896A= (n.*2896A=)
c.2106+182537A= (n.2106+182537A=)
c.618A=
3g.184327244A>CCA355413992EIF2B5,EIF4G1c.3457A>C (p.Lys1153Gln)
c.3391A>C (p.Lys1131Gln)
c.2804A>C (n.2804A>C)
c.2863A>C (p.Lys955Gln)
c.3460A>C (p.Lys1154Gln)
c.2965A>C (p.Lys989Gln)
c.3478A>C (p.Lys1160Gln)
c.3196A>C (p.Lys1066Gln)
c.3340A>C (p.Lys1114Gln)
c.3337A>C (p.Lys1113Gln)
c.3199A>C (p.Lys1067Gln)
c.2872A>C (p.Lys958Gln)
c.2869A>C (p.Lys957Gln)
c.2968A>C (p.Lys990Gln)
c.*2896A>C (n.*2896A>C)
c.2106+182537A>C (n.2106+182537A>C)
c.618A>C
3g.184327244A>GCA2732816EIF2B5,EIF4G1c.3457A>G (p.Lys1153Glu)
c.3391A>G (p.Lys1131Glu)
c.2804A>G (n.2804A>G)
c.2863A>G (p.Lys955Glu)
c.3460A>G (p.Lys1154Glu)
c.2965A>G (p.Lys989Glu)
c.3478A>G (p.Lys1160Glu)
c.3196A>G (p.Lys1066Glu)
c.3340A>G (p.Lys1114Glu)
c.3337A>G (p.Lys1113Glu)
c.3199A>G (p.Lys1067Glu)
c.2872A>G (p.Lys958Glu)
c.2869A>G (p.Lys957Glu)
c.2968A>G (p.Lys990Glu)
c.*2896A>G (n.*2896A>G)
c.2106+182537A>G (n.2106+182537A>G)
c.618A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327244A>TCA355413996EIF2B5,EIF4G1c.3457A>T (p.Lys1153Ter)
c.3391A>T (p.Lys1131Ter)
c.2804A>T (n.2804A>T)
c.2863A>T (p.Lys955Ter)
c.3460A>T (p.Lys1154Ter)
c.2965A>T (p.Lys989Ter)
c.3478A>T (p.Lys1160Ter)
c.3196A>T (p.Lys1066Ter)
c.3340A>T (p.Lys1114Ter)
c.3337A>T (p.Lys1113Ter)
c.3199A>T (p.Lys1067Ter)
c.2872A>T (p.Lys958Ter)
c.2869A>T (p.Lys957Ter)
c.2968A>T (p.Lys990Ter)
c.*2896A>T (n.*2896A>T)
c.2106+182537A>T (n.2106+182537A>T)
c.618A>T
3g.184327245A>CCA355413999EIF2B5,EIF4G1c.3458A>C (p.Lys1153Thr)
c.3392A>C (p.Lys1131Thr)
c.2805A>C (n.2805A>C)
c.2864A>C (p.Lys955Thr)
c.3461A>C (p.Lys1154Thr)
c.2966A>C (p.Lys989Thr)
c.3479A>C (p.Lys1160Thr)
c.3197A>C (p.Lys1066Thr)
c.3341A>C (p.Lys1114Thr)
c.3338A>C (p.Lys1113Thr)
c.3200A>C (p.Lys1067Thr)
c.2873A>C (p.Lys958Thr)
c.2870A>C (p.Lys957Thr)
c.2969A>C (p.Lys990Thr)
c.*2897A>C (n.*2897A>C)
c.2106+182538A>C (n.2106+182538A>C)
c.619A>C
3g.184327245A>GCA355414002EIF2B5,EIF4G1c.3458A>G (p.Lys1153Arg)
c.3392A>G (p.Lys1131Arg)
c.2805A>G (n.2805A>G)
c.2864A>G (p.Lys955Arg)
c.3461A>G (p.Lys1154Arg)
c.2966A>G (p.Lys989Arg)
c.3479A>G (p.Lys1160Arg)
c.3197A>G (p.Lys1066Arg)
c.3341A>G (p.Lys1114Arg)
c.3338A>G (p.Lys1113Arg)
c.3200A>G (p.Lys1067Arg)
c.2873A>G (p.Lys958Arg)
c.2870A>G (p.Lys957Arg)
c.2969A>G (p.Lys990Arg)
c.*2897A>G (n.*2897A>G)
c.2106+182538A>G (n.2106+182538A>G)
c.619A>G
3g.184327245A>TCA355414004EIF2B5,EIF4G1c.3458A>T (p.Lys1153Ile)
c.3392A>T (p.Lys1131Ile)
c.2805A>T (n.2805A>T)
c.2864A>T (p.Lys955Ile)
c.3461A>T (p.Lys1154Ile)
c.2966A>T (p.Lys989Ile)
c.3479A>T (p.Lys1160Ile)
c.3197A>T (p.Lys1066Ile)
c.3341A>T (p.Lys1114Ile)
c.3338A>T (p.Lys1113Ile)
c.3200A>T (p.Lys1067Ile)
c.2873A>T (p.Lys958Ile)
c.2870A>T (p.Lys957Ile)
c.2969A>T (p.Lys990Ile)
c.*2897A>T (n.*2897A>T)
c.2106+182538A>T (n.2106+182538A>T)
c.619A>T
3g.184327246A>CCA355414006EIF2B5,EIF4G1c.3459A>C (p.Lys1153Asn)
c.3393A>C (p.Lys1131Asn)
c.2806A>C (n.2806A>C)
c.2865A>C (p.Lys955Asn)
c.3462A>C (p.Lys1154Asn)
c.2967A>C (p.Lys989Asn)
c.3480A>C (p.Lys1160Asn)
c.3198A>C (p.Lys1066Asn)
c.3342A>C (p.Lys1114Asn)
c.3339A>C (p.Lys1113Asn)
c.3201A>C (p.Lys1067Asn)
c.2874A>C (p.Lys958Asn)
c.2871A>C (p.Lys957Asn)
c.2970A>C (p.Lys990Asn)
c.*2898A>C (n.*2898A>C)
c.2106+182539A>C (n.2106+182539A>C)
c.620A>C
3g.184327246A>GCA437330278EIF2B5,EIF4G1c.3459A>G (p.Lys1153=)
c.3393A>G (p.Lys1131=)
c.2806A>G (n.2806A>G)
c.2865A>G (p.Lys955=)
c.3462A>G (p.Lys1154=)
c.2967A>G (p.Lys989=)
c.3480A>G (p.Lys1160=)
c.3198A>G (p.Lys1066=)
c.3342A>G (p.Lys1114=)
c.3339A>G (p.Lys1113=)
c.3201A>G (p.Lys1067=)
c.2874A>G (p.Lys958=)
c.2871A>G (p.Lys957=)
c.2970A>G (p.Lys990=)
c.*2898A>G (n.*2898A>G)
c.2106+182539A>G (n.2106+182539A>G)
c.620A>G
3g.184327246A>TCA355414008EIF2B5,EIF4G1c.3459A>T (p.Lys1153Asn)
c.3393A>T (p.Lys1131Asn)
c.2806A>T (n.2806A>T)
c.2865A>T (p.Lys955Asn)
c.3462A>T (p.Lys1154Asn)
c.2967A>T (p.Lys989Asn)
c.3480A>T (p.Lys1160Asn)
c.3198A>T (p.Lys1066Asn)
c.3342A>T (p.Lys1114Asn)
c.3339A>T (p.Lys1113Asn)
c.3201A>T (p.Lys1067Asn)
c.2874A>T (p.Lys958Asn)
c.2871A>T (p.Lys957Asn)
c.2970A>T (p.Lys990Asn)
c.*2898A>T (n.*2898A>T)
c.2106+182539A>T (n.2106+182539A>T)
c.620A>T
3g.184327247G>ACA2732817EIF2B5,EIF4G1c.3460G>A (p.Ala1154Thr)
c.3394G>A (p.Ala1132Thr)
c.2807G>A (n.2807G>A)
c.2866G>A (p.Ala956Thr)
c.3463G>A (p.Ala1155Thr)
c.2968G>A (p.Ala990Thr)
c.3481G>A (p.Ala1161Thr)
c.3199G>A (p.Ala1067Thr)
c.3343G>A (p.Ala1115Thr)
c.3340G>A (p.Ala1114Thr)
c.3202G>A (p.Ala1068Thr)
c.2875G>A (p.Ala959Thr)
c.2872G>A (p.Ala958Thr)
c.2971G>A (p.Ala991Thr)
c.*2899G>A (n.*2899G>A)
c.2106+182540G>A (n.2106+182540G>A)
c.621G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327247G>CCA355414012EIF2B5,EIF4G1c.3460G>C (p.Ala1154Pro)
c.3394G>C (p.Ala1132Pro)
c.2807G>C (n.2807G>C)
c.2866G>C (p.Ala956Pro)
c.3463G>C (p.Ala1155Pro)
c.2968G>C (p.Ala990Pro)
c.3481G>C (p.Ala1161Pro)
c.3199G>C (p.Ala1067Pro)
c.3343G>C (p.Ala1115Pro)
c.3340G>C (p.Ala1114Pro)
c.3202G>C (p.Ala1068Pro)
c.2875G>C (p.Ala959Pro)
c.2872G>C (p.Ala958Pro)
c.2971G>C (p.Ala991Pro)
c.*2899G>C (n.*2899G>C)
c.2106+182540G>C (n.2106+182540G>C)
c.621G>C
 gnomAD v4
3g.184327247G=CA1425958141EIF2B5,EIF4G1c.3460G= (p.Ala1154=)
c.3394G= (p.Ala1132=)
c.2807G= (n.2807G=)
c.2866G= (p.Ala956=)
c.3463G= (p.Ala1155=)
c.2968G= (p.Ala990=)
c.3481G= (p.Ala1161=)
c.3199G= (p.Ala1067=)
c.3343G= (p.Ala1115=)
c.3340G= (p.Ala1114=)
c.3202G= (p.Ala1068=)
c.2875G= (p.Ala959=)
c.2872G= (p.Ala958=)
c.2971G= (p.Ala991=)
c.*2899G= (n.*2899G=)
c.2106+182540G= (n.2106+182540G=)
c.621G=
3g.184327247G>TCA355414013EIF2B5,EIF4G1c.3460G>T (p.Ala1154Ser)
c.3394G>T (p.Ala1132Ser)
c.2807G>T (n.2807G>T)
c.2866G>T (p.Ala956Ser)
c.3463G>T (p.Ala1155Ser)
c.2968G>T (p.Ala990Ser)
c.3481G>T (p.Ala1161Ser)
c.3199G>T (p.Ala1067Ser)
c.3343G>T (p.Ala1115Ser)
c.3340G>T (p.Ala1114Ser)
c.3202G>T (p.Ala1068Ser)
c.2875G>T (p.Ala959Ser)
c.2872G>T (p.Ala958Ser)
c.2971G>T (p.Ala991Ser)
c.*2899G>T (n.*2899G>T)
c.2106+182540G>T (n.2106+182540G>T)
c.621G>T
 COSMIC
3g.184327248C>ACA355414016EIF2B5,EIF4G1c.3461C>A (p.Ala1154Asp)
c.3395C>A (p.Ala1132Asp)
c.2808C>A (n.2808C>A)
c.2867C>A (p.Ala956Asp)
c.3464C>A (p.Ala1155Asp)
c.2969C>A (p.Ala990Asp)
c.3482C>A (p.Ala1161Asp)
c.3200C>A (p.Ala1067Asp)
c.3344C>A (p.Ala1115Asp)
c.3341C>A (p.Ala1114Asp)
c.3203C>A (p.Ala1068Asp)
c.2876C>A (p.Ala959Asp)
c.2873C>A (p.Ala958Asp)
c.2972C>A (p.Ala991Asp)
c.*2900C>A (n.*2900C>A)
c.2106+182541C>A (n.2106+182541C>A)
c.622C>A
 COSMIC
3g.184327248C=CA1425958146EIF2B5,EIF4G1c.3461C= (p.Ala1154=)
c.3395C= (p.Ala1132=)
c.2808C= (n.2808C=)
c.2867C= (p.Ala956=)
c.3464C= (p.Ala1155=)
c.2969C= (p.Ala990=)
c.3482C= (p.Ala1161=)
c.3200C= (p.Ala1067=)
c.3344C= (p.Ala1115=)
c.3341C= (p.Ala1114=)
c.3203C= (p.Ala1068=)
c.2876C= (p.Ala959=)
c.2873C= (p.Ala958=)
c.2972C= (p.Ala991=)
c.*2900C= (n.*2900C=)
c.2106+182541C= (n.2106+182541C=)
c.622C=
3g.184327248C>GCA355414018EIF2B5,EIF4G1c.3461C>G (p.Ala1154Gly)
c.3395C>G (p.Ala1132Gly)
c.2808C>G (n.2808C>G)
c.2867C>G (p.Ala956Gly)
c.3464C>G (p.Ala1155Gly)
c.2969C>G (p.Ala990Gly)
c.3482C>G (p.Ala1161Gly)
c.3200C>G (p.Ala1067Gly)
c.3344C>G (p.Ala1115Gly)
c.3341C>G (p.Ala1114Gly)
c.3203C>G (p.Ala1068Gly)
c.2876C>G (p.Ala959Gly)
c.2873C>G (p.Ala958Gly)
c.2972C>G (p.Ala991Gly)
c.*2900C>G (n.*2900C>G)
c.2106+182541C>G (n.2106+182541C>G)
c.622C>G
3g.184327248C>TCA88867464EIF2B5,EIF4G1c.3461C>T (p.Ala1154Val)
c.3395C>T (p.Ala1132Val)
c.2808C>T (n.2808C>T)
c.2867C>T (p.Ala956Val)
c.3464C>T (p.Ala1155Val)
c.2969C>T (p.Ala990Val)
c.3482C>T (p.Ala1161Val)
c.3200C>T (p.Ala1067Val)
c.3344C>T (p.Ala1115Val)
c.3341C>T (p.Ala1114Val)
c.3203C>T (p.Ala1068Val)
c.2876C>T (p.Ala959Val)
c.2873C>T (p.Ala958Val)
c.2972C>T (p.Ala991Val)
c.*2900C>T (n.*2900C>T)
c.2106+182541C>T (n.2106+182541C>T)
c.622C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.184327249T>ACA437330279EIF2B5,EIF4G1c.3462T>A (p.Ala1154=)
c.3396T>A (p.Ala1132=)
c.2809T>A (n.2809T>A)
c.2868T>A (p.Ala956=)
c.3465T>A (p.Ala1155=)
c.2970T>A (p.Ala990=)
c.3483T>A (p.Ala1161=)
c.3201T>A (p.Ala1067=)
c.3345T>A (p.Ala1115=)
c.3342T>A (p.Ala1114=)
c.3204T>A (p.Ala1068=)
c.2877T>A (p.Ala959=)
c.2874T>A (p.Ala958=)
c.2973T>A (p.Ala991=)
c.*2901T>A (n.*2901T>A)
c.2106+182542T>A (n.2106+182542T>A)
c.623T>A
 dbSNP gnomAD v2 gnomAD v4
3g.184327249T>CCA2732818EIF2B5,EIF4G1c.3462T>C (p.Ala1154=)
c.3396T>C (p.Ala1132=)
c.2809T>C (n.2809T>C)
c.2868T>C (p.Ala956=)
c.3465T>C (p.Ala1155=)
c.2970T>C (p.Ala990=)
c.3483T>C (p.Ala1161=)
c.3201T>C (p.Ala1067=)
c.3345T>C (p.Ala1115=)
c.3342T>C (p.Ala1114=)
c.3204T>C (p.Ala1068=)
c.2877T>C (p.Ala959=)
c.2874T>C (p.Ala958=)
c.2973T>C (p.Ala991=)
c.*2901T>C (n.*2901T>C)
c.2106+182542T>C (n.2106+182542T>C)
c.623T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327249T>GCA437330280EIF2B5,EIF4G1c.3462T>G (p.Ala1154=)
c.3396T>G (p.Ala1132=)
c.2809T>G (n.2809T>G)
c.2868T>G (p.Ala956=)
c.3465T>G (p.Ala1155=)
c.2970T>G (p.Ala990=)
c.3483T>G (p.Ala1161=)
c.3201T>G (p.Ala1067=)
c.3345T>G (p.Ala1115=)
c.3342T>G (p.Ala1114=)
c.3204T>G (p.Ala1068=)
c.2877T>G (p.Ala959=)
c.2874T>G (p.Ala958=)
c.2973T>G (p.Ala991=)
c.*2901T>G (n.*2901T>G)
c.2106+182542T>G (n.2106+182542T>G)
c.623T>G
3g.184327249T=CA1425958152EIF2B5,EIF4G1c.3462T= (p.Ala1154=)
c.3396T= (p.Ala1132=)
c.2809T= (n.2809T=)
c.2868T= (p.Ala956=)
c.3465T= (p.Ala1155=)
c.2970T= (p.Ala990=)
c.3483T= (p.Ala1161=)
c.3201T= (p.Ala1067=)
c.3345T= (p.Ala1115=)
c.3342T= (p.Ala1114=)
c.3204T= (p.Ala1068=)
c.2877T= (p.Ala959=)
c.2874T= (p.Ala958=)
c.2973T= (p.Ala991=)
c.*2901T= (n.*2901T=)
c.2106+182542T= (n.2106+182542T=)
c.623T=
3g.184327249_184327258delinsTGGAGACCGACA1425958154EIF2B5,EIF4G1c.3462_3471delinsTGGAGACCGA (p.Ala1154=)
c.3396_3405delinsTGGAGACCGA (p.Ala1132=)
c.2809_2818delinsTGGAGACCGA (n.2809_2818delinsTGGAGACCGA)
c.2868_2877delinsTGGAGACCGA (p.Ala956=)
c.3465_3474delinsTGGAGACCGA (p.Ala1155=)
c.2970_2979delinsTGGAGACCGA (p.Ala990=)
c.3483_3492delinsTGGAGACCGA (p.Ala1161=)
c.3201_3210delinsTGGAGACCGA (p.Ala1067=)
c.3345_3354delinsTGGAGACCGA (p.Ala1115=)
c.3342_3351delinsTGGAGACCGA (p.Ala1114=)
c.3204_3213delinsTGGAGACCGA (p.Ala1068=)
c.2877_2886delinsTGGAGACCGA (p.Ala959=)
c.2874_2883delinsTGGAGACCGA (p.Ala958=)
c.2973_2982delinsTGGAGACCGA (p.Ala991=)
c.*2901_*2910delinsTGGAGACCGA (n.*2901_*2910delinsTGGAGACCGA)
c.2106+182542_2106+182551delinsTGGAGACCGA (n.2106+182542_2106+182551delinsTGGAGACCGA)
c.623_632delinsTGGAGACCGA
3g.184327250G>ACA355414023EIF2B5,EIF4G1c.3463G>A (p.Gly1155Arg)
c.3397G>A (p.Gly1133Arg)
c.2810G>A (n.2810G>A)
c.2869G>A (p.Gly957Arg)
c.3466G>A (p.Gly1156Arg)
c.2971G>A (p.Gly991Arg)
c.3484G>A (p.Gly1162Arg)
c.3202G>A (p.Gly1068Arg)
c.3346G>A (p.Gly1116Arg)
c.3343G>A (p.Gly1115Arg)
c.3205G>A (p.Gly1069Arg)
c.2878G>A (p.Gly960Arg)
c.2875G>A (p.Gly959Arg)
c.2974G>A (p.Gly992Arg)
c.*2902G>A (n.*2902G>A)
c.2106+182543G>A (n.2106+182543G>A)
c.624G>A
3g.184327250G>CCA355414026EIF2B5,EIF4G1c.3463G>C (p.Gly1155Arg)
c.3397G>C (p.Gly1133Arg)
c.2810G>C (n.2810G>C)
c.2869G>C (p.Gly957Arg)
c.3466G>C (p.Gly1156Arg)
c.2971G>C (p.Gly991Arg)
c.3484G>C (p.Gly1162Arg)
c.3202G>C (p.Gly1068Arg)
c.3346G>C (p.Gly1116Arg)
c.3343G>C (p.Gly1115Arg)
c.3205G>C (p.Gly1069Arg)
c.2878G>C (p.Gly960Arg)
c.2875G>C (p.Gly959Arg)
c.2974G>C (p.Gly992Arg)
c.*2902G>C (n.*2902G>C)
c.2106+182543G>C (n.2106+182543G>C)
c.624G>C
3g.184327250G>TCA355414028EIF2B5,EIF4G1c.3463G>T (p.Gly1155Ter)
c.3397G>T (p.Gly1133Ter)
c.2810G>T (n.2810G>T)
c.2869G>T (p.Gly957Ter)
c.3466G>T (p.Gly1156Ter)
c.2971G>T (p.Gly991Ter)
c.3484G>T (p.Gly1162Ter)
c.3202G>T (p.Gly1068Ter)
c.3346G>T (p.Gly1116Ter)
c.3343G>T (p.Gly1115Ter)
c.3205G>T (p.Gly1069Ter)
c.2878G>T (p.Gly960Ter)
c.2875G>T (p.Gly959Ter)
c.2974G>T (p.Gly992Ter)
c.*2902G>T (n.*2902G>T)
c.2106+182543G>T (n.2106+182543G>T)
c.624G>T
3g.184327258_184327266delCA2732819EIF2B5,EIF4G1c.3471_3479del (p.Gly1158_Arg1160del)
c.3405_3413del (p.Gly1136_Arg1138del)
c.2818_2826del (n.2818_2826del)
c.2877_2885del (p.Gly960_Arg962del)
c.3474_3482del (p.Gly1159_Arg1161del)
c.2979_2987del (p.Gly994_Arg996del)
c.3492_3500del (p.Gly1165_Arg1167del)
c.3210_3218del (p.Gly1071_Arg1073del)
c.3354_3362del (p.Gly1119_Arg1121del)
c.3351_3359del (p.Gly1118_Arg1120del)
c.3213_3221del (p.Gly1072_Arg1074del)
c.2886_2894del (p.Gly963_Arg965del)
c.2883_2891del (p.Gly962_Arg964del)
c.2982_2990del (p.Gly995_Arg997del)
c.*2910_*2918del (n.*2910_*2918del)
c.2106+182551_2106+182559del (n.2106+182551_2106+182559del)
c.632_640del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327251G>ACA355414032EIF2B5,EIF4G1c.3464G>A (p.Gly1155Glu)
c.3398G>A (p.Gly1133Glu)
c.2811G>A (n.2811G>A)
c.2870G>A (p.Gly957Glu)
c.3467G>A (p.Gly1156Glu)
c.2972G>A (p.Gly991Glu)
c.3485G>A (p.Gly1162Glu)
c.3203G>A (p.Gly1068Glu)
c.3347G>A (p.Gly1116Glu)
c.3344G>A (p.Gly1115Glu)
c.3206G>A (p.Gly1069Glu)
c.2879G>A (p.Gly960Glu)
c.2876G>A (p.Gly959Glu)
c.2975G>A (p.Gly992Glu)
c.*2903G>A (n.*2903G>A)
c.2106+182544G>A (n.2106+182544G>A)
c.625G>A
3g.184327251G>CCA355414036EIF2B5,EIF4G1c.3464G>C (p.Gly1155Ala)
c.3398G>C (p.Gly1133Ala)
c.2811G>C (n.2811G>C)
c.2870G>C (p.Gly957Ala)
c.3467G>C (p.Gly1156Ala)
c.2972G>C (p.Gly991Ala)
c.3485G>C (p.Gly1162Ala)
c.3203G>C (p.Gly1068Ala)
c.3347G>C (p.Gly1116Ala)
c.3344G>C (p.Gly1115Ala)
c.3206G>C (p.Gly1069Ala)
c.2879G>C (p.Gly960Ala)
c.2876G>C (p.Gly959Ala)
c.2975G>C (p.Gly992Ala)
c.*2903G>C (n.*2903G>C)
c.2106+182544G>C (n.2106+182544G>C)
c.625G>C
3g.184327251G>TCA355414039EIF2B5,EIF4G1c.3464G>T (p.Gly1155Val)
c.3398G>T (p.Gly1133Val)
c.2811G>T (n.2811G>T)
c.2870G>T (p.Gly957Val)
c.3467G>T (p.Gly1156Val)
c.2972G>T (p.Gly991Val)
c.3485G>T (p.Gly1162Val)
c.3203G>T (p.Gly1068Val)
c.3347G>T (p.Gly1116Val)
c.3344G>T (p.Gly1115Val)
c.3206G>T (p.Gly1069Val)
c.2879G>T (p.Gly960Val)
c.2876G>T (p.Gly959Val)
c.2975G>T (p.Gly992Val)
c.*2903G>T (n.*2903G>T)
c.2106+182544G>T (n.2106+182544G>T)
c.625G>T
3g.184327252A>CCA437330282EIF2B5,EIF4G1c.3465A>C (p.Gly1155=)
c.3399A>C (p.Gly1133=)
c.2812A>C (n.2812A>C)
c.2871A>C (p.Gly957=)
c.3468A>C (p.Gly1156=)
c.2973A>C (p.Gly991=)
c.3486A>C (p.Gly1162=)
c.3204A>C (p.Gly1068=)
c.3348A>C (p.Gly1116=)
c.3345A>C (p.Gly1115=)
c.3207A>C (p.Gly1069=)
c.2880A>C (p.Gly960=)
c.2877A>C (p.Gly959=)
c.2976A>C (p.Gly992=)
c.*2904A>C (n.*2904A>C)
c.2106+182545A>C (n.2106+182545A>C)
c.626A>C
3g.184327252A>GCA437330283EIF2B5,EIF4G1c.3465A>G (p.Gly1155=)
c.3399A>G (p.Gly1133=)
c.2812A>G (n.2812A>G)
c.2871A>G (p.Gly957=)
c.3468A>G (p.Gly1156=)
c.2973A>G (p.Gly991=)
c.3486A>G (p.Gly1162=)
c.3204A>G (p.Gly1068=)
c.3348A>G (p.Gly1116=)
c.3345A>G (p.Gly1115=)
c.3207A>G (p.Gly1069=)
c.2880A>G (p.Gly960=)
c.2877A>G (p.Gly959=)
c.2976A>G (p.Gly992=)
c.*2904A>G (n.*2904A>G)
c.2106+182545A>G (n.2106+182545A>G)
c.626A>G
3g.184327252A>TCA437330284EIF2B5,EIF4G1c.3465A>T (p.Gly1155=)
c.3399A>T (p.Gly1133=)
c.2812A>T (n.2812A>T)
c.2871A>T (p.Gly957=)
c.3468A>T (p.Gly1156=)
c.2973A>T (p.Gly991=)
c.3486A>T (p.Gly1162=)
c.3204A>T (p.Gly1068=)
c.3348A>T (p.Gly1116=)
c.3345A>T (p.Gly1115=)
c.3207A>T (p.Gly1069=)
c.2880A>T (p.Gly960=)
c.2877A>T (p.Gly959=)
c.2976A>T (p.Gly992=)
c.*2904A>T (n.*2904A>T)
c.2106+182545A>T (n.2106+182545A>T)
c.626A>T
 COSMIC
3g.184327253G>ACA355414042EIF2B5,EIF4G1c.3466G>A (p.Asp1156Asn)
c.3400G>A (p.Asp1134Asn)
c.2813G>A (n.2813G>A)
c.2872G>A (p.Asp958Asn)
c.3469G>A (p.Asp1157Asn)
c.2974G>A (p.Asp992Asn)
c.3487G>A (p.Asp1163Asn)
c.3205G>A (p.Asp1069Asn)
c.3349G>A (p.Asp1117Asn)
c.3346G>A (p.Asp1116Asn)
c.3208G>A (p.Asp1070Asn)
c.2881G>A (p.Asp961Asn)
c.2878G>A (p.Asp960Asn)
c.2977G>A (p.Asp993Asn)
c.*2905G>A (n.*2905G>A)
c.2106+182546G>A (n.2106+182546G>A)
c.627G>A
 COSMIC
3g.184327253G>CCA355414043EIF2B5,EIF4G1c.3466G>C (p.Asp1156His)
c.3400G>C (p.Asp1134His)
c.2813G>C (n.2813G>C)
c.2872G>C (p.Asp958His)
c.3469G>C (p.Asp1157His)
c.2974G>C (p.Asp992His)
c.3487G>C (p.Asp1163His)
c.3205G>C (p.Asp1069His)
c.3349G>C (p.Asp1117His)
c.3346G>C (p.Asp1116His)
c.3208G>C (p.Asp1070His)
c.2881G>C (p.Asp961His)
c.2878G>C (p.Asp960His)
c.2977G>C (p.Asp993His)
c.*2905G>C (n.*2905G>C)
c.2106+182546G>C (n.2106+182546G>C)
c.627G>C
3g.184327253G>TCA355414044EIF2B5,EIF4G1c.3466G>T (p.Asp1156Tyr)
c.3400G>T (p.Asp1134Tyr)
c.2813G>T (n.2813G>T)
c.2872G>T (p.Asp958Tyr)
c.3469G>T (p.Asp1157Tyr)
c.2974G>T (p.Asp992Tyr)
c.3487G>T (p.Asp1163Tyr)
c.3205G>T (p.Asp1069Tyr)
c.3349G>T (p.Asp1117Tyr)
c.3346G>T (p.Asp1116Tyr)
c.3208G>T (p.Asp1070Tyr)
c.2881G>T (p.Asp961Tyr)
c.2878G>T (p.Asp960Tyr)
c.2977G>T (p.Asp993Tyr)
c.*2905G>T (n.*2905G>T)
c.2106+182546G>T (n.2106+182546G>T)
c.627G>T
3g.184327254A>CCA355414045EIF2B5,EIF4G1c.3467A>C (p.Asp1156Ala)
c.3401A>C (p.Asp1134Ala)
c.2814A>C (n.2814A>C)
c.2873A>C (p.Asp958Ala)
c.3470A>C (p.Asp1157Ala)
c.2975A>C (p.Asp992Ala)
c.3488A>C (p.Asp1163Ala)
c.3206A>C (p.Asp1069Ala)
c.3350A>C (p.Asp1117Ala)
c.3347A>C (p.Asp1116Ala)
c.3209A>C (p.Asp1070Ala)
c.2882A>C (p.Asp961Ala)
c.2879A>C (p.Asp960Ala)
c.2978A>C (p.Asp993Ala)
c.*2906A>C (n.*2906A>C)
c.2106+182547A>C (n.2106+182547A>C)
c.628A>C
3g.184327254A>GCA355414048EIF2B5,EIF4G1c.3467A>G (p.Asp1156Gly)
c.3401A>G (p.Asp1134Gly)
c.2814A>G (n.2814A>G)
c.2873A>G (p.Asp958Gly)
c.3470A>G (p.Asp1157Gly)
c.2975A>G (p.Asp992Gly)
c.3488A>G (p.Asp1163Gly)
c.3206A>G (p.Asp1069Gly)
c.3350A>G (p.Asp1117Gly)
c.3347A>G (p.Asp1116Gly)
c.3209A>G (p.Asp1070Gly)
c.2882A>G (p.Asp961Gly)
c.2879A>G (p.Asp960Gly)
c.2978A>G (p.Asp993Gly)
c.*2906A>G (n.*2906A>G)
c.2106+182547A>G (n.2106+182547A>G)
c.628A>G
 gnomAD v4
3g.184327254A>TCA355414051EIF2B5,EIF4G1c.3467A>T (p.Asp1156Val)
c.3401A>T (p.Asp1134Val)
c.2814A>T (n.2814A>T)
c.2873A>T (p.Asp958Val)
c.3470A>T (p.Asp1157Val)
c.2975A>T (p.Asp992Val)
c.3488A>T (p.Asp1163Val)
c.3206A>T (p.Asp1069Val)
c.3350A>T (p.Asp1117Val)
c.3347A>T (p.Asp1116Val)
c.3209A>T (p.Asp1070Val)
c.2882A>T (p.Asp961Val)
c.2879A>T (p.Asp960Val)
c.2978A>T (p.Asp993Val)
c.*2906A>T (n.*2906A>T)
c.2106+182547A>T (n.2106+182547A>T)
c.628A>T
3g.184327255C>ACA355414064EIF2B5,EIF4G1c.3468C>A (p.Asp1156Glu)
c.3402C>A (p.Asp1134Glu)
c.2815C>A (n.2815C>A)
c.2874C>A (p.Asp958Glu)
c.3471C>A (p.Asp1157Glu)
c.2976C>A (p.Asp992Glu)
c.3489C>A (p.Asp1163Glu)
c.3207C>A (p.Asp1069Glu)
c.3351C>A (p.Asp1117Glu)
c.3348C>A (p.Asp1116Glu)
c.3210C>A (p.Asp1070Glu)
c.2883C>A (p.Asp961Glu)
c.2880C>A (p.Asp960Glu)
c.2979C>A (p.Asp993Glu)
c.*2907C>A (n.*2907C>A)
c.2106+182548C>A (n.2106+182548C>A)
c.629C>A
3g.184327255C>GCA355414054EIF2B5,EIF4G1c.3468C>G (p.Asp1156Glu)
c.3402C>G (p.Asp1134Glu)
c.2815C>G (n.2815C>G)
c.2874C>G (p.Asp958Glu)
c.3471C>G (p.Asp1157Glu)
c.2976C>G (p.Asp992Glu)
c.3489C>G (p.Asp1163Glu)
c.3207C>G (p.Asp1069Glu)
c.3351C>G (p.Asp1117Glu)
c.3348C>G (p.Asp1116Glu)
c.3210C>G (p.Asp1070Glu)
c.2883C>G (p.Asp961Glu)
c.2880C>G (p.Asp960Glu)
c.2979C>G (p.Asp993Glu)
c.*2907C>G (n.*2907C>G)
c.2106+182548C>G (n.2106+182548C>G)
c.629C>G
3g.184327255C>TCA437330288EIF2B5,EIF4G1c.3468C>T (p.Asp1156=)
c.3402C>T (p.Asp1134=)
c.2815C>T (n.2815C>T)
c.2874C>T (p.Asp958=)
c.3471C>T (p.Asp1157=)
c.2976C>T (p.Asp992=)
c.3489C>T (p.Asp1163=)
c.3207C>T (p.Asp1069=)
c.3351C>T (p.Asp1117=)
c.3348C>T (p.Asp1116=)
c.3210C>T (p.Asp1070=)
c.2883C>T (p.Asp961=)
c.2880C>T (p.Asp960=)
c.2979C>T (p.Asp993=)
c.*2907C>T (n.*2907C>T)
c.2106+182548C>T (n.2106+182548C>T)
c.629C>T
3g.184327256C>ACA437330289EIF2B5,EIF4G1c.3469C>A (p.Arg1157=)
c.3403C>A (p.Arg1135=)
c.2816C>A (n.2816C>A)
c.2875C>A (p.Arg959=)
c.3472C>A (p.Arg1158=)
c.2977C>A (p.Arg993=)
c.3490C>A (p.Arg1164=)
c.3208C>A (p.Arg1070=)
c.3352C>A (p.Arg1118=)
c.3349C>A (p.Arg1117=)
c.3211C>A (p.Arg1071=)
c.2884C>A (p.Arg962=)
c.2881C>A (p.Arg961=)
c.2980C>A (p.Arg994=)
c.*2908C>A (n.*2908C>A)
c.2106+182549C>A (n.2106+182549C>A)
c.630C>A
3g.184327256C=CA1425958158EIF2B5,EIF4G1c.3469C= (p.Arg1157=)
c.3403C= (p.Arg1135=)
c.2816C= (n.2816C=)
c.2875C= (p.Arg959=)
c.3472C= (p.Arg1158=)
c.2977C= (p.Arg993=)
c.3490C= (p.Arg1164=)
c.3208C= (p.Arg1070=)
c.3352C= (p.Arg1118=)
c.3349C= (p.Arg1117=)
c.3211C= (p.Arg1071=)
c.2884C= (p.Arg962=)
c.2881C= (p.Arg961=)
c.2980C= (p.Arg994=)
c.*2908C= (n.*2908C=)
c.2106+182549C= (n.2106+182549C=)
c.630C=
3g.184327256C>GCA2732820EIF2B5,EIF4G1c.3469C>G (p.Arg1157Gly)
c.3403C>G (p.Arg1135Gly)
c.2816C>G (n.2816C>G)
c.2875C>G (p.Arg959Gly)
c.3472C>G (p.Arg1158Gly)
c.2977C>G (p.Arg993Gly)
c.3490C>G (p.Arg1164Gly)
c.3208C>G (p.Arg1070Gly)
c.3352C>G (p.Arg1118Gly)
c.3349C>G (p.Arg1117Gly)
c.3211C>G (p.Arg1071Gly)
c.2884C>G (p.Arg962Gly)
c.2881C>G (p.Arg961Gly)
c.2980C>G (p.Arg994Gly)
c.*2908C>G (n.*2908C>G)
c.2106+182549C>G (n.2106+182549C>G)
c.630C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327256C>TCA355414069EIF2B5,EIF4G1c.3469C>T (p.Arg1157Ter)
c.3403C>T (p.Arg1135Ter)
c.2816C>T (n.2816C>T)
c.2875C>T (p.Arg959Ter)
c.3472C>T (p.Arg1158Ter)
c.2977C>T (p.Arg993Ter)
c.3490C>T (p.Arg1164Ter)
c.3208C>T (p.Arg1070Ter)
c.3352C>T (p.Arg1118Ter)
c.3349C>T (p.Arg1117Ter)
c.3211C>T (p.Arg1071Ter)
c.2884C>T (p.Arg962Ter)
c.2881C>T (p.Arg961Ter)
c.2980C>T (p.Arg994Ter)
c.*2908C>T (n.*2908C>T)
c.2106+182549C>T (n.2106+182549C>T)
c.630C>T
3g.184327257G>ACA355414074EIF2B5,EIF4G1c.3470G>A (p.Arg1157Gln)
c.3404G>A (p.Arg1135Gln)
c.2817G>A (n.2817G>A)
c.2876G>A (p.Arg959Gln)
c.3473G>A (p.Arg1158Gln)
c.2978G>A (p.Arg993Gln)
c.3491G>A (p.Arg1164Gln)
c.3209G>A (p.Arg1070Gln)
c.3353G>A (p.Arg1118Gln)
c.3350G>A (p.Arg1117Gln)
c.3212G>A (p.Arg1071Gln)
c.2885G>A (p.Arg962Gln)
c.2882G>A (p.Arg961Gln)
c.2981G>A (p.Arg994Gln)
c.*2909G>A (n.*2909G>A)
c.2106+182550G>A (n.2106+182550G>A)
c.631G>A
 dbSNP gnomAD v4
3g.184327257G>CCA355414076EIF2B5,EIF4G1c.3470G>C (p.Arg1157Pro)
c.3404G>C (p.Arg1135Pro)
c.2817G>C (n.2817G>C)
c.2876G>C (p.Arg959Pro)
c.3473G>C (p.Arg1158Pro)
c.2978G>C (p.Arg993Pro)
c.3491G>C (p.Arg1164Pro)
c.3209G>C (p.Arg1070Pro)
c.3353G>C (p.Arg1118Pro)
c.3350G>C (p.Arg1117Pro)
c.3212G>C (p.Arg1071Pro)
c.2885G>C (p.Arg962Pro)
c.2882G>C (p.Arg961Pro)
c.2981G>C (p.Arg994Pro)
c.*2909G>C (n.*2909G>C)
c.2106+182550G>C (n.2106+182550G>C)
c.631G>C
 dbSNP
3g.184327257G=CA1425958162EIF2B5,EIF4G1c.3470G= (p.Arg1157=)
c.3404G= (p.Arg1135=)
c.2817G= (n.2817G=)
c.2876G= (p.Arg959=)
c.3473G= (p.Arg1158=)
c.2978G= (p.Arg993=)
c.3491G= (p.Arg1164=)
c.3209G= (p.Arg1070=)
c.3353G= (p.Arg1118=)
c.3350G= (p.Arg1117=)
c.3212G= (p.Arg1071=)
c.2885G= (p.Arg962=)
c.2882G= (p.Arg961=)
c.2981G= (p.Arg994=)
c.*2909G= (n.*2909G=)
c.2106+182550G= (n.2106+182550G=)
c.631G=
3g.184327257G>TCA355414079EIF2B5,EIF4G1c.3470G>T (p.Arg1157Leu)
c.3404G>T (p.Arg1135Leu)
c.2817G>T (n.2817G>T)
c.2876G>T (p.Arg959Leu)
c.3473G>T (p.Arg1158Leu)
c.2978G>T (p.Arg993Leu)
c.3491G>T (p.Arg1164Leu)
c.3209G>T (p.Arg1070Leu)
c.3353G>T (p.Arg1118Leu)
c.3350G>T (p.Arg1117Leu)
c.3212G>T (p.Arg1071Leu)
c.2885G>T (p.Arg962Leu)
c.2882G>T (p.Arg961Leu)
c.2981G>T (p.Arg994Leu)
c.*2909G>T (n.*2909G>T)
c.2106+182550G>T (n.2106+182550G>T)
c.631G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327258A>CCA437330292EIF2B5,EIF4G1c.3471A>C (p.Arg1157=)
c.3405A>C (p.Arg1135=)
c.2818A>C (n.2818A>C)
c.2877A>C (p.Arg959=)
c.3474A>C (p.Arg1158=)
c.2979A>C (p.Arg993=)
c.3492A>C (p.Arg1164=)
c.3210A>C (p.Arg1070=)
c.3354A>C (p.Arg1118=)
c.3351A>C (p.Arg1117=)
c.3213A>C (p.Arg1071=)
c.2886A>C (p.Arg962=)
c.2883A>C (p.Arg961=)
c.2982A>C (p.Arg994=)
c.*2910A>C (n.*2910A>C)
c.2106+182551A>C (n.2106+182551A>C)
c.632A>C
3g.184327258A>GCA437330291EIF2B5,EIF4G1c.3471A>G (p.Arg1157=)
c.3405A>G (p.Arg1135=)
c.2818A>G (n.2818A>G)
c.2877A>G (p.Arg959=)
c.3474A>G (p.Arg1158=)
c.2979A>G (p.Arg993=)
c.3492A>G (p.Arg1164=)
c.3210A>G (p.Arg1070=)
c.3354A>G (p.Arg1118=)
c.3351A>G (p.Arg1117=)
c.3213A>G (p.Arg1071=)
c.2886A>G (p.Arg962=)
c.2883A>G (p.Arg961=)
c.2982A>G (p.Arg994=)
c.*2910A>G (n.*2910A>G)
c.2106+182551A>G (n.2106+182551A>G)
c.632A>G
3g.184327258A>TCA437330290EIF2B5,EIF4G1c.3471A>T (p.Arg1157=)
c.3405A>T (p.Arg1135=)
c.2818A>T (n.2818A>T)
c.2877A>T (p.Arg959=)
c.3474A>T (p.Arg1158=)
c.2979A>T (p.Arg993=)
c.3492A>T (p.Arg1164=)
c.3210A>T (p.Arg1070=)
c.3354A>T (p.Arg1118=)
c.3351A>T (p.Arg1117=)
c.3213A>T (p.Arg1071=)
c.2886A>T (p.Arg962=)
c.2883A>T (p.Arg961=)
c.2982A>T (p.Arg994=)
c.*2910A>T (n.*2910A>T)
c.2106+182551A>T (n.2106+182551A>T)
c.632A>T
 gnomAD v4
3g.184327259G>ACA355414084EIF2B5,EIF4G1c.3472G>A (p.Gly1158Arg)
c.3406G>A (p.Gly1136Arg)
c.2819G>A (n.2819G>A)
c.2878G>A (p.Gly960Arg)
c.3475G>A (p.Gly1159Arg)
c.2980G>A (p.Gly994Arg)
c.3493G>A (p.Gly1165Arg)
c.3211G>A (p.Gly1071Arg)
c.3355G>A (p.Gly1119Arg)
c.3352G>A (p.Gly1118Arg)
c.3214G>A (p.Gly1072Arg)
c.2887G>A (p.Gly963Arg)
c.2884G>A (p.Gly962Arg)
c.2983G>A (p.Gly995Arg)
c.*2911G>A (n.*2911G>A)
c.2106+182552G>A (n.2106+182552G>A)
c.633G>A
 dbSNP gnomAD v2 gnomAD v4
3g.184327259G>CCA355414087EIF2B5,EIF4G1c.3472G>C (p.Gly1158Arg)
c.3406G>C (p.Gly1136Arg)
c.2819G>C (n.2819G>C)
c.2878G>C (p.Gly960Arg)
c.3475G>C (p.Gly1159Arg)
c.2980G>C (p.Gly994Arg)
c.3493G>C (p.Gly1165Arg)
c.3211G>C (p.Gly1071Arg)
c.3355G>C (p.Gly1119Arg)
c.3352G>C (p.Gly1118Arg)
c.3214G>C (p.Gly1072Arg)
c.2887G>C (p.Gly963Arg)
c.2884G>C (p.Gly962Arg)
c.2983G>C (p.Gly995Arg)
c.*2911G>C (n.*2911G>C)
c.2106+182552G>C (n.2106+182552G>C)
c.633G>C
3g.184327259G=CA1425958165EIF2B5,EIF4G1c.3472G= (p.Gly1158=)
c.3406G= (p.Gly1136=)
c.2819G= (n.2819G=)
c.2878G= (p.Gly960=)
c.3475G= (p.Gly1159=)
c.2980G= (p.Gly994=)
c.3493G= (p.Gly1165=)
c.3211G= (p.Gly1071=)
c.3355G= (p.Gly1119=)
c.3352G= (p.Gly1118=)
c.3214G= (p.Gly1072=)
c.2887G= (p.Gly963=)
c.2884G= (p.Gly962=)
c.2983G= (p.Gly995=)
c.*2911G= (n.*2911G=)
c.2106+182552G= (n.2106+182552G=)
c.633G=
3g.184327259G>TCA355414092EIF2B5,EIF4G1c.3472G>T (p.Gly1158Ter)
c.3406G>T (p.Gly1136Ter)
c.2819G>T (n.2819G>T)
c.2878G>T (p.Gly960Ter)
c.3475G>T (p.Gly1159Ter)
c.2980G>T (p.Gly994Ter)
c.3493G>T (p.Gly1165Ter)
c.3211G>T (p.Gly1071Ter)
c.3355G>T (p.Gly1119Ter)
c.3352G>T (p.Gly1118Ter)
c.3214G>T (p.Gly1072Ter)
c.2887G>T (p.Gly963Ter)
c.2884G>T (p.Gly962Ter)
c.2983G>T (p.Gly995Ter)
c.*2911G>T (n.*2911G>T)
c.2106+182552G>T (n.2106+182552G>T)
c.633G>T
3g.184327263_184327289delCA2759716609EIF2B5,EIF4G1c.3476_3502del (p.Asp1159_Gly1167del)
c.3410_3436del (p.Asp1137_Gly1145del)
c.2823_2849del (n.2823_2849del)
c.2882_2907del
c.3479_3505del (p.Asp1160_Gly1168del)
c.2984_3010del (p.Asp995_Gly1003del)
c.3497_3523del (p.Asp1166_Gly1174del)
c.3215_3241del (p.Asp1072_Gly1080del)
c.3359_3385del (p.Asp1120_Gly1128del)
c.3356_3382del (p.Asp1119_Gly1127del)
c.3218_3244del (p.Asp1073_Gly1081del)
c.2891_2917del (p.Asp964_Gly972del)
c.2888_2914del (p.Asp963_Gly971del)
c.2987_3013del (p.Asp996_Gly1004del)
c.*2915_*2941del (n.*2915_*2941del)
c.2106+182556_2106+182582del (n.2106+182556_2106+182582del)
c.637_663del
3g.184327260G>ACA355414097EIF2B5,EIF4G1c.3473G>A (p.Gly1158Glu)
c.3407G>A (p.Gly1136Glu)
c.2820G>A (n.2820G>A)
c.2879G>A (p.Gly960Glu)
c.3476G>A (p.Gly1159Glu)
c.2981G>A (p.Gly994Glu)
c.3494G>A (p.Gly1165Glu)
c.3212G>A (p.Gly1071Glu)
c.3356G>A (p.Gly1119Glu)
c.3353G>A (p.Gly1118Glu)
c.3215G>A (p.Gly1072Glu)
c.2888G>A (p.Gly963Glu)
c.2885G>A (p.Gly962Glu)
c.2984G>A (p.Gly995Glu)
c.*2912G>A (n.*2912G>A)
c.2106+182553G>A (n.2106+182553G>A)
c.634G>A
 gnomAD v4
3g.184327260G>CCA355414105EIF2B5,EIF4G1c.3473G>C (p.Gly1158Ala)
c.3407G>C (p.Gly1136Ala)
c.2820G>C (n.2820G>C)
c.2879G>C (p.Gly960Ala)
c.3476G>C (p.Gly1159Ala)
c.2981G>C (p.Gly994Ala)
c.3494G>C (p.Gly1165Ala)
c.3212G>C (p.Gly1071Ala)
c.3356G>C (p.Gly1119Ala)
c.3353G>C (p.Gly1118Ala)
c.3215G>C (p.Gly1072Ala)
c.2888G>C (p.Gly963Ala)
c.2885G>C (p.Gly962Ala)
c.2984G>C (p.Gly995Ala)
c.*2912G>C (n.*2912G>C)
c.2106+182553G>C (n.2106+182553G>C)
c.634G>C
3g.184327260G>TCA355414103EIF2B5,EIF4G1c.3473G>T (p.Gly1158Val)
c.3407G>T (p.Gly1136Val)
c.2820G>T (n.2820G>T)
c.2879G>T (p.Gly960Val)
c.3476G>T (p.Gly1159Val)
c.2981G>T (p.Gly994Val)
c.3494G>T (p.Gly1165Val)
c.3212G>T (p.Gly1071Val)
c.3356G>T (p.Gly1119Val)
c.3353G>T (p.Gly1118Val)
c.3215G>T (p.Gly1072Val)
c.2888G>T (p.Gly963Val)
c.2885G>T (p.Gly962Val)
c.2984G>T (p.Gly995Val)
c.*2912G>T (n.*2912G>T)
c.2106+182553G>T (n.2106+182553G>T)
c.634G>T
3g.184327261A=CA1425958169EIF2B5,EIF4G1c.3474A= (p.Gly1158=)
c.3408A= (p.Gly1136=)
c.2821A= (n.2821A=)
c.2880A= (p.Gly960=)
c.3477A= (p.Gly1159=)
c.2982A= (p.Gly994=)
c.3495A= (p.Gly1165=)
c.3213A= (p.Gly1071=)
c.3357A= (p.Gly1119=)
c.3354A= (p.Gly1118=)
c.3216A= (p.Gly1072=)
c.2889A= (p.Gly963=)
c.2886A= (p.Gly962=)
c.2985A= (p.Gly995=)
c.*2913A= (n.*2913A=)
c.2106+182554A= (n.2106+182554A=)
c.635A=
3g.184327261A>CCA437330294EIF2B5,EIF4G1c.3474A>C (p.Gly1158=)
c.3408A>C (p.Gly1136=)
c.2821A>C (n.2821A>C)
c.2880A>C (p.Gly960=)
c.3477A>C (p.Gly1159=)
c.2982A>C (p.Gly994=)
c.3495A>C (p.Gly1165=)
c.3213A>C (p.Gly1071=)
c.3357A>C (p.Gly1119=)
c.3354A>C (p.Gly1118=)
c.3216A>C (p.Gly1072=)
c.2889A>C (p.Gly963=)
c.2886A>C (p.Gly962=)
c.2985A>C (p.Gly995=)
c.*2913A>C (n.*2913A>C)
c.2106+182554A>C (n.2106+182554A>C)
c.635A>C
3g.184327261A>GCA2732821EIF2B5,EIF4G1c.3474A>G (p.Gly1158=)
c.3408A>G (p.Gly1136=)
c.2821A>G (n.2821A>G)
c.2880A>G (p.Gly960=)
c.3477A>G (p.Gly1159=)
c.2982A>G (p.Gly994=)
c.3495A>G (p.Gly1165=)
c.3213A>G (p.Gly1071=)
c.3357A>G (p.Gly1119=)
c.3354A>G (p.Gly1118=)
c.3216A>G (p.Gly1072=)
c.2889A>G (p.Gly963=)
c.2886A>G (p.Gly962=)
c.2985A>G (p.Gly995=)
c.*2913A>G (n.*2913A>G)
c.2106+182554A>G (n.2106+182554A>G)
c.635A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327261A>TCA437330295EIF2B5,EIF4G1c.3474A>T (p.Gly1158=)
c.3408A>T (p.Gly1136=)
c.2821A>T (n.2821A>T)
c.2880A>T (p.Gly960=)
c.3477A>T (p.Gly1159=)
c.2982A>T (p.Gly994=)
c.3495A>T (p.Gly1165=)
c.3213A>T (p.Gly1071=)
c.3357A>T (p.Gly1119=)
c.3354A>T (p.Gly1118=)
c.3216A>T (p.Gly1072=)
c.2889A>T (p.Gly963=)
c.2886A>T (p.Gly962=)
c.2985A>T (p.Gly995=)
c.*2913A>T (n.*2913A>T)
c.2106+182554A>T (n.2106+182554A>T)
c.635A>T
3g.184327262G>ACA355414116EIF2B5,EIF4G1c.3475G>A (p.Asp1159Asn)
c.3409G>A (p.Asp1137Asn)
c.2822G>A (n.2822G>A)
c.2881G>A (p.Asp961Asn)
c.3478G>A (p.Asp1160Asn)
c.2983G>A (p.Asp995Asn)
c.3496G>A (p.Asp1166Asn)
c.3214G>A (p.Asp1072Asn)
c.3358G>A (p.Asp1120Asn)
c.3355G>A (p.Asp1119Asn)
c.3217G>A (p.Asp1073Asn)
c.2890G>A (p.Asp964Asn)
c.2887G>A (p.Asp963Asn)
c.2986G>A (p.Asp996Asn)
c.*2914G>A (n.*2914G>A)
c.2106+182555G>A (n.2106+182555G>A)
c.636G>A
3g.184327262G>CCA355414118EIF2B5,EIF4G1c.3475G>C (p.Asp1159His)
c.3409G>C (p.Asp1137His)
c.2822G>C (n.2822G>C)
c.2881G>C (p.Asp961His)
c.3478G>C (p.Asp1160His)
c.2983G>C (p.Asp995His)
c.3496G>C (p.Asp1166His)
c.3214G>C (p.Asp1072His)
c.3358G>C (p.Asp1120His)
c.3355G>C (p.Asp1119His)
c.3217G>C (p.Asp1073His)
c.2890G>C (p.Asp964His)
c.2887G>C (p.Asp963His)
c.2986G>C (p.Asp996His)
c.*2914G>C (n.*2914G>C)
c.2106+182555G>C (n.2106+182555G>C)
c.636G>C
3g.184327262G>TCA355414120EIF2B5,EIF4G1c.3475G>T (p.Asp1159Tyr)
c.3409G>T (p.Asp1137Tyr)
c.2822G>T (n.2822G>T)
c.2881G>T (p.Asp961Tyr)
c.3478G>T (p.Asp1160Tyr)
c.2983G>T (p.Asp995Tyr)
c.3496G>T (p.Asp1166Tyr)
c.3214G>T (p.Asp1072Tyr)
c.3358G>T (p.Asp1120Tyr)
c.3355G>T (p.Asp1119Tyr)
c.3217G>T (p.Asp1073Tyr)
c.2890G>T (p.Asp964Tyr)
c.2887G>T (p.Asp963Tyr)
c.2986G>T (p.Asp996Tyr)
c.*2914G>T (n.*2914G>T)
c.2106+182555G>T (n.2106+182555G>T)
c.636G>T
3g.184327263A>CCA355414125EIF2B5,EIF4G1c.3476A>C (p.Asp1159Ala)
c.3410A>C (p.Asp1137Ala)
c.2823A>C (n.2823A>C)
c.2882A>C (p.Asp961Ala)
c.3479A>C (p.Asp1160Ala)
c.2984A>C (p.Asp995Ala)
c.3497A>C (p.Asp1166Ala)
c.3215A>C (p.Asp1072Ala)
c.3359A>C (p.Asp1120Ala)
c.3356A>C (p.Asp1119Ala)
c.3218A>C (p.Asp1073Ala)
c.2891A>C (p.Asp964Ala)
c.2888A>C (p.Asp963Ala)
c.2987A>C (p.Asp996Ala)
c.*2915A>C (n.*2915A>C)
c.2106+182556A>C (n.2106+182556A>C)
c.637A>C
3g.184327263A>GCA355414127EIF2B5,EIF4G1c.3476A>G (p.Asp1159Gly)
c.3410A>G (p.Asp1137Gly)
c.2823A>G (n.2823A>G)
c.2882A>G (p.Asp961Gly)
c.3479A>G (p.Asp1160Gly)
c.2984A>G (p.Asp995Gly)
c.3497A>G (p.Asp1166Gly)
c.3215A>G (p.Asp1072Gly)
c.3359A>G (p.Asp1120Gly)
c.3356A>G (p.Asp1119Gly)
c.3218A>G (p.Asp1073Gly)
c.2891A>G (p.Asp964Gly)
c.2888A>G (p.Asp963Gly)
c.2987A>G (p.Asp996Gly)
c.*2915A>G (n.*2915A>G)
c.2106+182556A>G (n.2106+182556A>G)
c.637A>G
3g.184327263A>TCA355414126EIF2B5,EIF4G1c.3476A>T (p.Asp1159Val)
c.3410A>T (p.Asp1137Val)
c.2823A>T (n.2823A>T)
c.2882A>T (p.Asp961Val)
c.3479A>T (p.Asp1160Val)
c.2984A>T (p.Asp995Val)
c.3497A>T (p.Asp1166Val)
c.3215A>T (p.Asp1072Val)
c.3359A>T (p.Asp1120Val)
c.3356A>T (p.Asp1119Val)
c.3218A>T (p.Asp1073Val)
c.2891A>T (p.Asp964Val)
c.2888A>T (p.Asp963Val)
c.2987A>T (p.Asp996Val)
c.*2915A>T (n.*2915A>T)
c.2106+182556A>T (n.2106+182556A>T)
c.637A>T
3g.184327264C>ACA355414128EIF2B5,EIF4G1c.3477C>A (p.Asp1159Glu)
c.3411C>A (p.Asp1137Glu)
c.2824C>A (n.2824C>A)
c.2883C>A (p.Asp961Glu)
c.3480C>A (p.Asp1160Glu)
c.2985C>A (p.Asp995Glu)
c.3498C>A (p.Asp1166Glu)
c.3216C>A (p.Asp1072Glu)
c.3360C>A (p.Asp1120Glu)
c.3357C>A (p.Asp1119Glu)
c.3219C>A (p.Asp1073Glu)
c.2892C>A (p.Asp964Glu)
c.2889C>A (p.Asp963Glu)
c.2988C>A (p.Asp996Glu)
c.*2916C>A (n.*2916C>A)
c.2106+182557C>A (n.2106+182557C>A)
c.638C>A
3g.184327264C=CA1425958171EIF2B5,EIF4G1c.3477C= (p.Asp1159=)
c.3411C= (p.Asp1137=)
c.2824C= (n.2824C=)
c.2883C= (p.Asp961=)
c.3480C= (p.Asp1160=)
c.2985C= (p.Asp995=)
c.3498C= (p.Asp1166=)
c.3216C= (p.Asp1072=)
c.3360C= (p.Asp1120=)
c.3357C= (p.Asp1119=)
c.3219C= (p.Asp1073=)
c.2892C= (p.Asp964=)
c.2889C= (p.Asp963=)
c.2988C= (p.Asp996=)
c.*2916C= (n.*2916C=)
c.2106+182557C= (n.2106+182557C=)
c.638C=
3g.184327264C>GCA355414129EIF2B5,EIF4G1c.3477C>G (p.Asp1159Glu)
c.3411C>G (p.Asp1137Glu)
c.2824C>G (n.2824C>G)
c.2883C>G (p.Asp961Glu)
c.3480C>G (p.Asp1160Glu)
c.2985C>G (p.Asp995Glu)
c.3498C>G (p.Asp1166Glu)
c.3216C>G (p.Asp1072Glu)
c.3360C>G (p.Asp1120Glu)
c.3357C>G (p.Asp1119Glu)
c.3219C>G (p.Asp1073Glu)
c.2892C>G (p.Asp964Glu)
c.2889C>G (p.Asp963Glu)
c.2988C>G (p.Asp996Glu)
c.*2916C>G (n.*2916C>G)
c.2106+182557C>G (n.2106+182557C>G)
c.638C>G
3g.184327264C>TCA437330299EIF2B5,EIF4G1c.3477C>T (p.Asp1159=)
c.3411C>T (p.Asp1137=)
c.2824C>T (n.2824C>T)
c.2883C>T (p.Asp961=)
c.3480C>T (p.Asp1160=)
c.2985C>T (p.Asp995=)
c.3498C>T (p.Asp1166=)
c.3216C>T (p.Asp1072=)
c.3360C>T (p.Asp1120=)
c.3357C>T (p.Asp1119=)
c.3219C>T (p.Asp1073=)
c.2892C>T (p.Asp964=)
c.2889C>T (p.Asp963=)
c.2988C>T (p.Asp996=)
c.*2916C>T (n.*2916C>T)
c.2106+182557C>T (n.2106+182557C>T)
c.638C>T
 dbSNP gnomAD v4
3g.184327265C>ACA355414131EIF2B5,EIF4G1c.3478C>A (p.Arg1160Ser)
c.3412C>A (p.Arg1138Ser)
c.2825C>A (n.2825C>A)
c.2884C>A (p.Arg962Ser)
c.3481C>A (p.Arg1161Ser)
c.2986C>A (p.Arg996Ser)
c.3499C>A (p.Arg1167Ser)
c.3217C>A (p.Arg1073Ser)
c.3361C>A (p.Arg1121Ser)
c.3358C>A (p.Arg1120Ser)
c.3220C>A (p.Arg1074Ser)
c.2893C>A (p.Arg965Ser)
c.2890C>A (p.Arg964Ser)
c.2989C>A (p.Arg997Ser)
c.*2917C>A (n.*2917C>A)
c.2106+182558C>A (n.2106+182558C>A)
c.639C>A
 dbSNP gnomAD v3 gnomAD v4
3g.184327265C=CA1425958175EIF2B5,EIF4G1c.3478C= (p.Arg1160=)
c.3412C= (p.Arg1138=)
c.2825C= (n.2825C=)
c.2884C= (p.Arg962=)
c.3481C= (p.Arg1161=)
c.2986C= (p.Arg996=)
c.3499C= (p.Arg1167=)
c.3217C= (p.Arg1073=)
c.3361C= (p.Arg1121=)
c.3358C= (p.Arg1120=)
c.3220C= (p.Arg1074=)
c.2893C= (p.Arg965=)
c.2890C= (p.Arg964=)
c.2989C= (p.Arg997=)
c.*2917C= (n.*2917C=)
c.2106+182558C= (n.2106+182558C=)
c.639C=
3g.184327265C>GCA355414133EIF2B5,EIF4G1c.3478C>G (p.Arg1160Gly)
c.3412C>G (p.Arg1138Gly)
c.2825C>G (n.2825C>G)
c.2884C>G (p.Arg962Gly)
c.3481C>G (p.Arg1161Gly)
c.2986C>G (p.Arg996Gly)
c.3499C>G (p.Arg1167Gly)
c.3217C>G (p.Arg1073Gly)
c.3361C>G (p.Arg1121Gly)
c.3358C>G (p.Arg1120Gly)
c.3220C>G (p.Arg1074Gly)
c.2893C>G (p.Arg965Gly)
c.2890C>G (p.Arg964Gly)
c.2989C>G (p.Arg997Gly)
c.*2917C>G (n.*2917C>G)
c.2106+182558C>G (n.2106+182558C>G)
c.639C>G
3g.184327265C>TCA355414136EIF2B5,EIF4G1c.3478C>T (p.Arg1160Cys)
c.3412C>T (p.Arg1138Cys)
c.2825C>T (n.2825C>T)
c.2884C>T (p.Arg962Cys)
c.3481C>T (p.Arg1161Cys)
c.2986C>T (p.Arg996Cys)
c.3499C>T (p.Arg1167Cys)
c.3217C>T (p.Arg1073Cys)
c.3361C>T (p.Arg1121Cys)
c.3358C>T (p.Arg1120Cys)
c.3220C>T (p.Arg1074Cys)
c.2893C>T (p.Arg965Cys)
c.2890C>T (p.Arg964Cys)
c.2989C>T (p.Arg997Cys)
c.*2917C>T (n.*2917C>T)
c.2106+182558C>T (n.2106+182558C>T)
c.639C>T
 dbSNP gnomAD v2 gnomAD v4
3g.184327266G>ACA2732822EIF2B5,EIF4G1c.3479G>A (p.Arg1160His)
c.3413G>A (p.Arg1138His)
c.2826G>A (n.2826G>A)
c.2885G>A (p.Arg962His)
c.3482G>A (p.Arg1161His)
c.2987G>A (p.Arg996His)
c.3500G>A (p.Arg1167His)
c.3218G>A (p.Arg1073His)
c.3362G>A (p.Arg1121His)
c.3359G>A (p.Arg1120His)
c.3221G>A (p.Arg1074His)
c.2894G>A (p.Arg965His)
c.2891G>A (p.Arg964His)
c.2990G>A (p.Arg997His)
c.*2918G>A (n.*2918G>A)
c.2106+182559G>A (n.2106+182559G>A)
c.640G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327266G>CCA355414141EIF2B5,EIF4G1c.3479G>C (p.Arg1160Pro)
c.3413G>C (p.Arg1138Pro)
c.2826G>C (n.2826G>C)
c.2885G>C (p.Arg962Pro)
c.3482G>C (p.Arg1161Pro)
c.2987G>C (p.Arg996Pro)
c.3500G>C (p.Arg1167Pro)
c.3218G>C (p.Arg1073Pro)
c.3362G>C (p.Arg1121Pro)
c.3359G>C (p.Arg1120Pro)
c.3221G>C (p.Arg1074Pro)
c.2894G>C (p.Arg965Pro)
c.2891G>C (p.Arg964Pro)
c.2990G>C (p.Arg997Pro)
c.*2918G>C (n.*2918G>C)
c.2106+182559G>C (n.2106+182559G>C)
c.640G>C
3g.184327266G=CA1425958178EIF2B5,EIF4G1c.3479G= (p.Arg1160=)
c.3413G= (p.Arg1138=)
c.2826G= (n.2826G=)
c.2885G= (p.Arg962=)
c.3482G= (p.Arg1161=)
c.2987G= (p.Arg996=)
c.3500G= (p.Arg1167=)
c.3218G= (p.Arg1073=)
c.3362G= (p.Arg1121=)
c.3359G= (p.Arg1120=)
c.3221G= (p.Arg1074=)
c.2894G= (p.Arg965=)
c.2891G= (p.Arg964=)
c.2990G= (p.Arg997=)
c.*2918G= (n.*2918G=)
c.2106+182559G= (n.2106+182559G=)
c.640G=
3g.184327266G>TCA355414144EIF2B5,EIF4G1c.3479G>T (p.Arg1160Leu)
c.3413G>T (p.Arg1138Leu)
c.2826G>T (n.2826G>T)
c.2885G>T (p.Arg962Leu)
c.3482G>T (p.Arg1161Leu)
c.2987G>T (p.Arg996Leu)
c.3500G>T (p.Arg1167Leu)
c.3218G>T (p.Arg1073Leu)
c.3362G>T (p.Arg1121Leu)
c.3359G>T (p.Arg1120Leu)
c.3221G>T (p.Arg1074Leu)
c.2894G>T (p.Arg965Leu)
c.2891G>T (p.Arg964Leu)
c.2990G>T (p.Arg997Leu)
c.*2918G>T (n.*2918G>T)
c.2106+182559G>T (n.2106+182559G>T)
c.640G>T
 gnomAD v4
3g.184327267C>ACA437330300EIF2B5,EIF4G1c.3480C>A (p.Arg1160=)
c.3414C>A (p.Arg1138=)
c.2827C>A (n.2827C>A)
c.2886C>A (p.Arg962=)
c.3483C>A (p.Arg1161=)
c.2988C>A (p.Arg996=)
c.3501C>A (p.Arg1167=)
c.3219C>A (p.Arg1073=)
c.3363C>A (p.Arg1121=)
c.3360C>A (p.Arg1120=)
c.3222C>A (p.Arg1074=)
c.2895C>A (p.Arg965=)
c.2892C>A (p.Arg964=)
c.2991C>A (p.Arg997=)
c.*2919C>A (n.*2919C>A)
c.2106+182560C>A (n.2106+182560C>A)
c.641C>A
3g.184327267C=CA1425958182EIF2B5,EIF4G1c.3480C= (p.Arg1160=)
c.3414C= (p.Arg1138=)
c.2827C= (n.2827C=)
c.2886C= (p.Arg962=)
c.3483C= (p.Arg1161=)
c.2988C= (p.Arg996=)
c.3501C= (p.Arg1167=)
c.3219C= (p.Arg1073=)
c.3363C= (p.Arg1121=)
c.3360C= (p.Arg1120=)
c.3222C= (p.Arg1074=)
c.2895C= (p.Arg965=)
c.2892C= (p.Arg964=)
c.2991C= (p.Arg997=)
c.*2919C= (n.*2919C=)
c.2106+182560C= (n.2106+182560C=)
c.641C=
3g.184327267C>GCA437330301EIF2B5,EIF4G1c.3480C>G (p.Arg1160=)
c.3414C>G (p.Arg1138=)
c.2827C>G (n.2827C>G)
c.2886C>G (p.Arg962=)
c.3483C>G (p.Arg1161=)
c.2988C>G (p.Arg996=)
c.3501C>G (p.Arg1167=)
c.3219C>G (p.Arg1073=)
c.3363C>G (p.Arg1121=)
c.3360C>G (p.Arg1120=)
c.3222C>G (p.Arg1074=)
c.2895C>G (p.Arg965=)
c.2892C>G (p.Arg964=)
c.2991C>G (p.Arg997=)
c.*2919C>G (n.*2919C>G)
c.2106+182560C>G (n.2106+182560C>G)
c.641C>G
3g.184327267C>TCA88867507EIF2B5,EIF4G1c.3480C>T (p.Arg1160=)
c.3414C>T (p.Arg1138=)
c.2827C>T (n.2827C>T)
c.2886C>T (p.Arg962=)
c.3483C>T (p.Arg1161=)
c.2988C>T (p.Arg996=)
c.3501C>T (p.Arg1167=)
c.3219C>T (p.Arg1073=)
c.3363C>T (p.Arg1121=)
c.3360C>T (p.Arg1120=)
c.3222C>T (p.Arg1074=)
c.2895C>T (p.Arg965=)
c.2892C>T (p.Arg964=)
c.2991C>T (p.Arg997=)
c.*2919C>T (n.*2919C>T)
c.2106+182560C>T (n.2106+182560C>T)
c.641C>T
 dbSNP gnomAD v2 gnomAD v4
3g.184327268C>ACA355414151EIF2B5,EIF4G1c.3481C>A (p.Leu1161Ile)
c.3415C>A (p.Leu1139Ile)
c.2828C>A (n.2828C>A)
c.2887C>A (p.Leu963Ile)
c.3484C>A (p.Leu1162Ile)
c.2989C>A (p.Leu997Ile)
c.3502C>A (p.Leu1168Ile)
c.3220C>A (p.Leu1074Ile)
c.3364C>A (p.Leu1122Ile)
c.3361C>A (p.Leu1121Ile)
c.3223C>A (p.Leu1075Ile)
c.2896C>A (p.Leu966Ile)
c.2893C>A (p.Leu965Ile)
c.2992C>A (p.Leu998Ile)
c.*2920C>A (n.*2920C>A)
c.2106+182561C>A (n.2106+182561C>A)
c.642C>A
3g.184327268C=CA1425958184EIF2B5,EIF4G1c.3481C= (p.Leu1161=)
c.3415C= (p.Leu1139=)
c.2828C= (n.2828C=)
c.2887C= (p.Leu963=)
c.3484C= (p.Leu1162=)
c.2989C= (p.Leu997=)
c.3502C= (p.Leu1168=)
c.3220C= (p.Leu1074=)
c.3364C= (p.Leu1122=)
c.3361C= (p.Leu1121=)
c.3223C= (p.Leu1075=)
c.2896C= (p.Leu966=)
c.2893C= (p.Leu965=)
c.2992C= (p.Leu998=)
c.*2920C= (n.*2920C=)
c.2106+182561C= (n.2106+182561C=)
c.642C=
3g.184327268C>GCA355414153EIF2B5,EIF4G1c.3481C>G (p.Leu1161Val)
c.3415C>G (p.Leu1139Val)
c.2828C>G (n.2828C>G)
c.2887C>G (p.Leu963Val)
c.3484C>G (p.Leu1162Val)
c.2989C>G (p.Leu997Val)
c.3502C>G (p.Leu1168Val)
c.3220C>G (p.Leu1074Val)
c.3364C>G (p.Leu1122Val)
c.3361C>G (p.Leu1121Val)
c.3223C>G (p.Leu1075Val)
c.2896C>G (p.Leu966Val)
c.2893C>G (p.Leu965Val)
c.2992C>G (p.Leu998Val)
c.*2920C>G (n.*2920C>G)
c.2106+182561C>G (n.2106+182561C>G)
c.642C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327268C>TCA437330303EIF2B5,EIF4G1c.3481C>T (p.Leu1161=)
c.3415C>T (p.Leu1139=)
c.2828C>T (n.2828C>T)
c.2887C>T (p.Leu963=)
c.3484C>T (p.Leu1162=)
c.2989C>T (p.Leu997=)
c.3502C>T (p.Leu1168=)
c.3220C>T (p.Leu1074=)
c.3364C>T (p.Leu1122=)
c.3361C>T (p.Leu1121=)
c.3223C>T (p.Leu1075=)
c.2896C>T (p.Leu966=)
c.2893C>T (p.Leu965=)
c.2992C>T (p.Leu998=)
c.*2920C>T (n.*2920C>T)
c.2106+182561C>T (n.2106+182561C>T)
c.642C>T
 gnomAD v4
3g.184327269T>ACA355414157EIF2B5,EIF4G1c.3482T>A (p.Leu1161Gln)
c.3416T>A (p.Leu1139Gln)
c.2829T>A (n.2829T>A)
c.2888T>A (p.Leu963Gln)
c.3485T>A (p.Leu1162Gln)
c.2990T>A (p.Leu997Gln)
c.3503T>A (p.Leu1168Gln)
c.3221T>A (p.Leu1074Gln)
c.3365T>A (p.Leu1122Gln)
c.3362T>A (p.Leu1121Gln)
c.3224T>A (p.Leu1075Gln)
c.2897T>A (p.Leu966Gln)
c.2894T>A (p.Leu965Gln)
c.2993T>A (p.Leu998Gln)
c.*2921T>A (n.*2921T>A)
c.2106+182562T>A (n.2106+182562T>A)
c.643T>A
 dbSNP gnomAD v2 gnomAD v4
3g.184327269T>CCA2732823EIF2B5,EIF4G1c.3482T>C (p.Leu1161Pro)
c.3416T>C (p.Leu1139Pro)
c.2829T>C (n.2829T>C)
c.2888T>C (p.Leu963Pro)
c.3485T>C (p.Leu1162Pro)
c.2990T>C (p.Leu997Pro)
c.3503T>C (p.Leu1168Pro)
c.3221T>C (p.Leu1074Pro)
c.3365T>C (p.Leu1122Pro)
c.3362T>C (p.Leu1121Pro)
c.3224T>C (p.Leu1075Pro)
c.2897T>C (p.Leu966Pro)
c.2894T>C (p.Leu965Pro)
c.2993T>C (p.Leu998Pro)
c.*2921T>C (n.*2921T>C)
c.2106+182562T>C (n.2106+182562T>C)
c.643T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327269T>GCA355414159EIF2B5,EIF4G1c.3482T>G (p.Leu1161Arg)
c.3416T>G (p.Leu1139Arg)
c.2829T>G (n.2829T>G)
c.2888T>G (p.Leu963Arg)
c.3485T>G (p.Leu1162Arg)
c.2990T>G (p.Leu997Arg)
c.3503T>G (p.Leu1168Arg)
c.3221T>G (p.Leu1074Arg)
c.3365T>G (p.Leu1122Arg)
c.3362T>G (p.Leu1121Arg)
c.3224T>G (p.Leu1075Arg)
c.2897T>G (p.Leu966Arg)
c.2894T>G (p.Leu965Arg)
c.2993T>G (p.Leu998Arg)
c.*2921T>G (n.*2921T>G)
c.2106+182562T>G (n.2106+182562T>G)
c.643T>G
3g.184327269T=CA1425958187EIF2B5,EIF4G1c.3482T= (p.Leu1161=)
c.3416T= (p.Leu1139=)
c.2829T= (n.2829T=)
c.2888T= (p.Leu963=)
c.3485T= (p.Leu1162=)
c.2990T= (p.Leu997=)
c.3503T= (p.Leu1168=)
c.3221T= (p.Leu1074=)
c.3365T= (p.Leu1122=)
c.3362T= (p.Leu1121=)
c.3224T= (p.Leu1075=)
c.2897T= (p.Leu966=)
c.2894T= (p.Leu965=)
c.2993T= (p.Leu998=)
c.*2921T= (n.*2921T=)
c.2106+182562T= (n.2106+182562T=)
c.643T=
3g.184327270A>CCA437330305EIF2B5,EIF4G1c.3483A>C (p.Leu1161=)
c.3417A>C (p.Leu1139=)
c.2830A>C (n.2830A>C)
c.2889A>C (p.Leu963=)
c.3486A>C (p.Leu1162=)
c.2991A>C (p.Leu997=)
c.3504A>C (p.Leu1168=)
c.3222A>C (p.Leu1074=)
c.3366A>C (p.Leu1122=)
c.3363A>C (p.Leu1121=)
c.3225A>C (p.Leu1075=)
c.2898A>C (p.Leu966=)
c.2895A>C (p.Leu965=)
c.2994A>C (p.Leu998=)
c.*2922A>C (n.*2922A>C)
c.2106+182563A>C (n.2106+182563A>C)
c.644A>C
3g.184327270A>GCA437330306EIF2B5,EIF4G1c.3483A>G (p.Leu1161=)
c.3417A>G (p.Leu1139=)
c.2830A>G (n.2830A>G)
c.2889A>G (p.Leu963=)
c.3486A>G (p.Leu1162=)
c.2991A>G (p.Leu997=)
c.3504A>G (p.Leu1168=)
c.3222A>G (p.Leu1074=)
c.3366A>G (p.Leu1122=)
c.3363A>G (p.Leu1121=)
c.3225A>G (p.Leu1075=)
c.2898A>G (p.Leu966=)
c.2895A>G (p.Leu965=)
c.2994A>G (p.Leu998=)
c.*2922A>G (n.*2922A>G)
c.2106+182563A>G (n.2106+182563A>G)
c.644A>G
 gnomAD v4
3g.184327270A>TCA437330307EIF2B5,EIF4G1c.3483A>T (p.Leu1161=)
c.3417A>T (p.Leu1139=)
c.2830A>T (n.2830A>T)
c.2889A>T (p.Leu963=)
c.3486A>T (p.Leu1162=)
c.2991A>T (p.Leu997=)
c.3504A>T (p.Leu1168=)
c.3222A>T (p.Leu1074=)
c.3366A>T (p.Leu1122=)
c.3363A>T (p.Leu1121=)
c.3225A>T (p.Leu1075=)
c.2898A>T (p.Leu966=)
c.2895A>T (p.Leu965=)
c.2994A>T (p.Leu998=)
c.*2922A>T (n.*2922A>T)
c.2106+182563A>T (n.2106+182563A>T)
c.644A>T
3g.184327271G>ACA355414167EIF2B5,EIF4G1c.3484G>A (p.Glu1162Lys)
c.3418G>A (p.Glu1140Lys)
c.2831G>A (n.2831G>A)
c.2890G>A (p.Glu964Lys)
c.3487G>A (p.Glu1163Lys)
c.2992G>A (p.Glu998Lys)
c.3505G>A (p.Glu1169Lys)
c.3223G>A (p.Glu1075Lys)
c.3367G>A (p.Glu1123Lys)
c.3364G>A (p.Glu1122Lys)
c.3226G>A (p.Glu1076Lys)
c.2899G>A (p.Glu967Lys)
c.2896G>A (p.Glu966Lys)
c.2995G>A (p.Glu999Lys)
c.*2923G>A (n.*2923G>A)
c.2106+182564G>A (n.2106+182564G>A)
c.645G>A
3g.184327271G>CCA2732824EIF2B5,EIF4G1c.3484G>C (p.Glu1162Gln)
c.3418G>C (p.Glu1140Gln)
c.2831G>C (n.2831G>C)
c.2890G>C (p.Glu964Gln)
c.3487G>C (p.Glu1163Gln)
c.2992G>C (p.Glu998Gln)
c.3505G>C (p.Glu1169Gln)
c.3223G>C (p.Glu1075Gln)
c.3367G>C (p.Glu1123Gln)
c.3364G>C (p.Glu1122Gln)
c.3226G>C (p.Glu1076Gln)
c.2899G>C (p.Glu967Gln)
c.2896G>C (p.Glu966Gln)
c.2995G>C (p.Glu999Gln)
c.*2923G>C (n.*2923G>C)
c.2106+182564G>C (n.2106+182564G>C)
c.645G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327271G=CA1425958192EIF2B5,EIF4G1c.3484G= (p.Glu1162=)
c.3418G= (p.Glu1140=)
c.2831G= (n.2831G=)
c.2890G= (p.Glu964=)
c.3487G= (p.Glu1163=)
c.2992G= (p.Glu998=)
c.3505G= (p.Glu1169=)
c.3223G= (p.Glu1075=)
c.3367G= (p.Glu1123=)
c.3364G= (p.Glu1122=)
c.3226G= (p.Glu1076=)
c.2899G= (p.Glu967=)
c.2896G= (p.Glu966=)
c.2995G= (p.Glu999=)
c.*2923G= (n.*2923G=)
c.2106+182564G= (n.2106+182564G=)
c.645G=
3g.184327271G>TCA355414170EIF2B5,EIF4G1c.3484G>T (p.Glu1162Ter)
c.3418G>T (p.Glu1140Ter)
c.2831G>T (n.2831G>T)
c.2890G>T (p.Glu964Ter)
c.3487G>T (p.Glu1163Ter)
c.2992G>T (p.Glu998Ter)
c.3505G>T (p.Glu1169Ter)
c.3223G>T (p.Glu1075Ter)
c.3367G>T (p.Glu1123Ter)
c.3364G>T (p.Glu1122Ter)
c.3226G>T (p.Glu1076Ter)
c.2899G>T (p.Glu967Ter)
c.2896G>T (p.Glu966Ter)
c.2995G>T (p.Glu999Ter)
c.*2923G>T (n.*2923G>T)
c.2106+182564G>T (n.2106+182564G>T)
c.645G>T
3g.184327272A>CCA355414171EIF2B5,EIF4G1c.3485A>C (p.Glu1162Ala)
c.3419A>C (p.Glu1140Ala)
c.2832A>C (n.2832A>C)
c.2891A>C (p.Glu964Ala)
c.3488A>C (p.Glu1163Ala)
c.2993A>C (p.Glu998Ala)
c.3506A>C (p.Glu1169Ala)
c.3224A>C (p.Glu1075Ala)
c.3368A>C (p.Glu1123Ala)
c.3365A>C (p.Glu1122Ala)
c.3227A>C (p.Glu1076Ala)
c.2900A>C (p.Glu967Ala)
c.2897A>C (p.Glu966Ala)
c.2996A>C (p.Glu999Ala)
c.*2924A>C (n.*2924A>C)
c.2106+182565A>C (n.2106+182565A>C)
c.646A>C
3g.184327272A>GCA355414172EIF2B5,EIF4G1c.3485A>G (p.Glu1162Gly)
c.3419A>G (p.Glu1140Gly)
c.2832A>G (n.2832A>G)
c.2891A>G (p.Glu964Gly)
c.3488A>G (p.Glu1163Gly)
c.2993A>G (p.Glu998Gly)
c.3506A>G (p.Glu1169Gly)
c.3224A>G (p.Glu1075Gly)
c.3368A>G (p.Glu1123Gly)
c.3365A>G (p.Glu1122Gly)
c.3227A>G (p.Glu1076Gly)
c.2900A>G (p.Glu967Gly)
c.2897A>G (p.Glu966Gly)
c.2996A>G (p.Glu999Gly)
c.*2924A>G (n.*2924A>G)
c.2106+182565A>G (n.2106+182565A>G)
c.646A>G
3g.184327272A>TCA355414176EIF2B5,EIF4G1c.3485A>T (p.Glu1162Val)
c.3419A>T (p.Glu1140Val)
c.2832A>T (n.2832A>T)
c.2891A>T (p.Glu964Val)
c.3488A>T (p.Glu1163Val)
c.2993A>T (p.Glu998Val)
c.3506A>T (p.Glu1169Val)
c.3224A>T (p.Glu1075Val)
c.3368A>T (p.Glu1123Val)
c.3365A>T (p.Glu1122Val)
c.3227A>T (p.Glu1076Val)
c.2900A>T (p.Glu967Val)
c.2897A>T (p.Glu966Val)
c.2996A>T (p.Glu999Val)
c.*2924A>T (n.*2924A>T)
c.2106+182565A>T (n.2106+182565A>T)
c.646A>T
3g.184327273G>ACA437330309EIF2B5,EIF4G1c.3486G>A (p.Glu1162=)
c.3420G>A (p.Glu1140=)
c.2833G>A (n.2833G>A)
c.2892G>A (p.Glu964=)
c.3489G>A (p.Glu1163=)
c.2994G>A (p.Glu998=)
c.3507G>A (p.Glu1169=)
c.3225G>A (p.Glu1075=)
c.3369G>A (p.Glu1123=)
c.3366G>A (p.Glu1122=)
c.3228G>A (p.Glu1076=)
c.2901G>A (p.Glu967=)
c.2898G>A (p.Glu966=)
c.2997G>A (p.Glu999=)
c.*2925G>A (n.*2925G>A)
c.2106+182566G>A (n.2106+182566G>A)
c.647G>A
 dbSNP
3g.184327273G>CCA355414179EIF2B5,EIF4G1c.3486G>C (p.Glu1162Asp)
c.3420G>C (p.Glu1140Asp)
c.2833G>C (n.2833G>C)
c.2892G>C (p.Glu964Asp)
c.3489G>C (p.Glu1163Asp)
c.2994G>C (p.Glu998Asp)
c.3507G>C (p.Glu1169Asp)
c.3225G>C (p.Glu1075Asp)
c.3369G>C (p.Glu1123Asp)
c.3366G>C (p.Glu1122Asp)
c.3228G>C (p.Glu1076Asp)
c.2901G>C (p.Glu967Asp)
c.2898G>C (p.Glu966Asp)
c.2997G>C (p.Glu999Asp)
c.*2925G>C (n.*2925G>C)
c.2106+182566G>C (n.2106+182566G>C)
c.647G>C
3g.184327273G=CA1425958196EIF2B5,EIF4G1c.3486G= (p.Glu1162=)
c.3420G= (p.Glu1140=)
c.2833G= (n.2833G=)
c.2892G= (p.Glu964=)
c.3489G= (p.Glu1163=)
c.2994G= (p.Glu998=)
c.3507G= (p.Glu1169=)
c.3225G= (p.Glu1075=)
c.3369G= (p.Glu1123=)
c.3366G= (p.Glu1122=)
c.3228G= (p.Glu1076=)
c.2901G= (p.Glu967=)
c.2898G= (p.Glu966=)
c.2997G= (p.Glu999=)
c.*2925G= (n.*2925G=)
c.2106+182566G= (n.2106+182566G=)
c.647G=
3g.184327273G>TCA355414183EIF2B5,EIF4G1c.3486G>T (p.Glu1162Asp)
c.3420G>T (p.Glu1140Asp)
c.2833G>T (n.2833G>T)
c.2892G>T (p.Glu964Asp)
c.3489G>T (p.Glu1163Asp)
c.2994G>T (p.Glu998Asp)
c.3507G>T (p.Glu1169Asp)
c.3225G>T (p.Glu1075Asp)
c.3369G>T (p.Glu1123Asp)
c.3366G>T (p.Glu1122Asp)
c.3228G>T (p.Glu1076Asp)
c.2901G>T (p.Glu967Asp)
c.2898G>T (p.Glu966Asp)
c.2997G>T (p.Glu999Asp)
c.*2925G>T (n.*2925G>T)
c.2106+182566G>T (n.2106+182566G>T)
c.647G>T
 dbSNP gnomAD v3 gnomAD v4
3g.184327274C>ACA437330311EIF2B5,EIF4G1c.3487C>A (p.Arg1163=)
c.3421C>A (p.Arg1141=)
c.2834C>A (n.2834C>A)
c.2893C>A (p.Arg965=)
c.3490C>A (p.Arg1164=)
c.2995C>A (p.Arg999=)
c.3508C>A (p.Arg1170=)
c.3226C>A (p.Arg1076=)
c.3370C>A (p.Arg1124=)
c.3367C>A (p.Arg1123=)
c.3229C>A (p.Arg1077=)
c.2902C>A (p.Arg968=)
c.2899C>A (p.Arg967=)
c.2998C>A (p.Arg1000=)
c.*2926C>A (n.*2926C>A)
c.2106+182567C>A (n.2106+182567C>A)
c.648C>A
3g.184327274C=CA1425958198EIF2B5,EIF4G1c.3487C= (p.Arg1163=)
c.3421C= (p.Arg1141=)
c.2834C= (n.2834C=)
c.2893C= (p.Arg965=)
c.3490C= (p.Arg1164=)
c.2995C= (p.Arg999=)
c.3508C= (p.Arg1170=)
c.3226C= (p.Arg1076=)
c.3370C= (p.Arg1124=)
c.3367C= (p.Arg1123=)
c.3229C= (p.Arg1077=)
c.2902C= (p.Arg968=)
c.2899C= (p.Arg967=)
c.2998C= (p.Arg1000=)
c.*2926C= (n.*2926C=)
c.2106+182567C= (n.2106+182567C=)
c.648C=
3g.184327274C>GCA355414186EIF2B5,EIF4G1c.3487C>G (p.Arg1163Gly)
c.3421C>G (p.Arg1141Gly)
c.2834C>G (n.2834C>G)
c.2893C>G (p.Arg965Gly)
c.3490C>G (p.Arg1164Gly)
c.2995C>G (p.Arg999Gly)
c.3508C>G (p.Arg1170Gly)
c.3226C>G (p.Arg1076Gly)
c.3370C>G (p.Arg1124Gly)
c.3367C>G (p.Arg1123Gly)
c.3229C>G (p.Arg1077Gly)
c.2902C>G (p.Arg968Gly)
c.2899C>G (p.Arg967Gly)
c.2998C>G (p.Arg1000Gly)
c.*2926C>G (n.*2926C>G)
c.2106+182567C>G (n.2106+182567C>G)
c.648C>G
3g.184327274C>TCA2732825EIF2B5,EIF4G1c.3487C>T (p.Arg1163Trp)
c.3421C>T (p.Arg1141Trp)
c.2834C>T (n.2834C>T)
c.2893C>T (p.Arg965Trp)
c.3490C>T (p.Arg1164Trp)
c.2995C>T (p.Arg999Trp)
c.3508C>T (p.Arg1170Trp)
c.3226C>T (p.Arg1076Trp)
c.3370C>T (p.Arg1124Trp)
c.3367C>T (p.Arg1123Trp)
c.3229C>T (p.Arg1077Trp)
c.2902C>T (p.Arg968Trp)
c.2899C>T (p.Arg967Trp)
c.2998C>T (p.Arg1000Trp)
c.*2926C>T (n.*2926C>T)
c.2106+182567C>T (n.2106+182567C>T)
c.648C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327275G>ACA2732826EIF2B5,EIF4G1c.3488G>A (p.Arg1163Gln)
c.3422G>A (p.Arg1141Gln)
c.2835G>A (n.2835G>A)
c.2894G>A (p.Arg965Gln)
c.3491G>A (p.Arg1164Gln)
c.2996G>A (p.Arg999Gln)
c.3509G>A (p.Arg1170Gln)
c.3227G>A (p.Arg1076Gln)
c.3371G>A (p.Arg1124Gln)
c.3368G>A (p.Arg1123Gln)
c.3230G>A (p.Arg1077Gln)
c.2903G>A (p.Arg968Gln)
c.2900G>A (p.Arg967Gln)
c.2999G>A (p.Arg1000Gln)
c.*2927G>A (n.*2927G>A)
c.2106+182568G>A (n.2106+182568G>A)
c.649G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327275G>CCA355414204EIF2B5,EIF4G1c.3488G>C (p.Arg1163Pro)
c.3422G>C (p.Arg1141Pro)
c.2835G>C (n.2835G>C)
c.2894G>C (p.Arg965Pro)
c.3491G>C (p.Arg1164Pro)
c.2996G>C (p.Arg999Pro)
c.3509G>C (p.Arg1170Pro)
c.3227G>C (p.Arg1076Pro)
c.3371G>C (p.Arg1124Pro)
c.3368G>C (p.Arg1123Pro)
c.3230G>C (p.Arg1077Pro)
c.2903G>C (p.Arg968Pro)
c.2900G>C (p.Arg967Pro)
c.2999G>C (p.Arg1000Pro)
c.*2927G>C (n.*2927G>C)
c.2106+182568G>C (n.2106+182568G>C)
c.649G>C
3g.184327275G=CA1425958201EIF2B5,EIF4G1c.3488G= (p.Arg1163=)
c.3422G= (p.Arg1141=)
c.2835G= (n.2835G=)
c.2894G= (p.Arg965=)
c.3491G= (p.Arg1164=)
c.2996G= (p.Arg999=)
c.3509G= (p.Arg1170=)
c.3227G= (p.Arg1076=)
c.3371G= (p.Arg1124=)
c.3368G= (p.Arg1123=)
c.3230G= (p.Arg1077=)
c.2903G= (p.Arg968=)
c.2900G= (p.Arg967=)
c.2999G= (p.Arg1000=)
c.*2927G= (n.*2927G=)
c.2106+182568G= (n.2106+182568G=)
c.649G=
3g.184327275G>TCA355414208EIF2B5,EIF4G1c.3488G>T (p.Arg1163Leu)
c.3422G>T (p.Arg1141Leu)
c.2835G>T (n.2835G>T)
c.2894G>T (p.Arg965Leu)
c.3491G>T (p.Arg1164Leu)
c.2996G>T (p.Arg999Leu)
c.3509G>T (p.Arg1170Leu)
c.3227G>T (p.Arg1076Leu)
c.3371G>T (p.Arg1124Leu)
c.3368G>T (p.Arg1123Leu)
c.3230G>T (p.Arg1077Leu)
c.2903G>T (p.Arg968Leu)
c.2900G>T (p.Arg967Leu)
c.2999G>T (p.Arg1000Leu)
c.*2927G>T (n.*2927G>T)
c.2106+182568G>T (n.2106+182568G>T)
c.649G>T
3g.184327276G>ACA355414211EIF2B5,EIF4G1c.3489G>A (p.Arg1163=)
c.3423G>A (p.Arg1141=)
c.2836G>A (n.2836G>A)
c.2895G>A (p.Arg965=)
c.3492G>A (p.Arg1164=)
c.2997G>A (p.Arg999=)
c.3510G>A (p.Arg1170=)
c.3228G>A (p.Arg1076=)
c.3372G>A (p.Arg1124=)
c.3369G>A (p.Arg1123=)
c.3231G>A (p.Arg1077=)
c.2904G>A (p.Arg968=)
c.2901G>A (p.Arg967=)
c.3000G>A (p.Arg1000=)
c.*2928G>A (n.*2928G>A)
c.2106+182569G>A (n.2106+182569G>A)
c.650G>A
3g.184327276G>CCA355414215EIF2B5,EIF4G1c.3489G>C (p.Arg1163=)
c.3423G>C (p.Arg1141=)
c.2836G>C (n.2836G>C)
c.2895G>C (p.Arg965=)
c.3492G>C (p.Arg1164=)
c.2997G>C (p.Arg999=)
c.3510G>C (p.Arg1170=)
c.3228G>C (p.Arg1076=)
c.3372G>C (p.Arg1124=)
c.3369G>C (p.Arg1123=)
c.3231G>C (p.Arg1077=)
c.2904G>C (p.Arg968=)
c.2901G>C (p.Arg967=)
c.3000G>C (p.Arg1000=)
c.*2928G>C (n.*2928G>C)
c.2106+182569G>C (n.2106+182569G>C)
c.650G>C
3g.184327276G>TCA355414218EIF2B5,EIF4G1c.3489G>T (p.Arg1163=)
c.3423G>T (p.Arg1141=)
c.2836G>T (n.2836G>T)
c.2895G>T (p.Arg965=)
c.3492G>T (p.Arg1164=)
c.2997G>T (p.Arg999=)
c.3510G>T (p.Arg1170=)
c.3228G>T (p.Arg1076=)
c.3372G>T (p.Arg1124=)
c.3369G>T (p.Arg1123=)
c.3231G>T (p.Arg1077=)
c.2904G>T (p.Arg968=)
c.2901G>T (p.Arg967=)
c.3000G>T (p.Arg1000=)
c.*2928G>T (n.*2928G>T)
c.2106+182569G>T (n.2106+182569G>T)
c.650G>T
3g.184327277A=CA1425958203EIF2B5,EIF4G1c.3490A= (p.Ser1164=)
c.3424A= (p.Ser1142=)
c.2837A= (n.2837A=)
c.2896-1A= (n.2896-1A=)
c.3493A= (p.Ser1165=)
c.2998A= (p.Ser1000=)
c.3511A= (p.Ser1171=)
c.3229A= (p.Ser1077=)
c.3373A= (p.Ser1125=)
c.3370A= (p.Ser1124=)
c.3232A= (p.Ser1078=)
c.2905A= (p.Ser969=)
c.2902A= (p.Ser968=)
c.3001A= (p.Ser1001=)
c.*2929A= (n.*2929A=)
c.2106+182570A= (n.2106+182570A=)
c.651A=
3g.184327277A>CCA88867551EIF2B5,EIF4G1c.3490A>C (p.Ser1164Arg)
c.3424A>C (p.Ser1142Arg)
c.2837A>C (n.2837A>C)
c.2896-1A>C (n.2896-1A>C)
c.3493A>C (p.Ser1165Arg)
c.2998A>C (p.Ser1000Arg)
c.3511A>C (p.Ser1171Arg)
c.3229A>C (p.Ser1077Arg)
c.3373A>C (p.Ser1125Arg)
c.3370A>C (p.Ser1124Arg)
c.3232A>C (p.Ser1078Arg)
c.2905A>C (p.Ser969Arg)
c.2902A>C (p.Ser968Arg)
c.3001A>C (p.Ser1001Arg)
c.*2929A>C (n.*2929A>C)
c.2106+182570A>C (n.2106+182570A>C)
c.651A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327277A>GCA355414230EIF2B5,EIF4G1c.3490A>G (p.Ser1164Gly)
c.3424A>G (p.Ser1142Gly)
c.2837A>G (n.2837A>G)
c.2896-1A>G (n.2896-1A>G)
c.3493A>G (p.Ser1165Gly)
c.2998A>G (p.Ser1000Gly)
c.3511A>G (p.Ser1171Gly)
c.3229A>G (p.Ser1077Gly)
c.3373A>G (p.Ser1125Gly)
c.3370A>G (p.Ser1124Gly)
c.3232A>G (p.Ser1078Gly)
c.2905A>G (p.Ser969Gly)
c.2902A>G (p.Ser968Gly)
c.3001A>G (p.Ser1001Gly)
c.*2929A>G (n.*2929A>G)
c.2106+182570A>G (n.2106+182570A>G)
c.651A>G
 dbSNP gnomAD v2 gnomAD v4
3g.184327277A>TCA355414225EIF2B5,EIF4G1c.3490A>T (p.Ser1164Cys)
c.3424A>T (p.Ser1142Cys)
c.2837A>T (n.2837A>T)
c.2896-1A>T (n.2896-1A>T)
c.3493A>T (p.Ser1165Cys)
c.2998A>T (p.Ser1000Cys)
c.3511A>T (p.Ser1171Cys)
c.3229A>T (p.Ser1077Cys)
c.3373A>T (p.Ser1125Cys)
c.3370A>T (p.Ser1124Cys)
c.3232A>T (p.Ser1078Cys)
c.2905A>T (p.Ser969Cys)
c.2902A>T (p.Ser968Cys)
c.3001A>T (p.Ser1001Cys)
c.*2929A>T (n.*2929A>T)
c.2106+182570A>T (n.2106+182570A>T)
c.651A>T
3g.184327278G>ACA355414231EIF2B5,EIF4G1c.3491G>A (p.Ser1164Asn)
c.3425G>A (p.Ser1142Asn)
c.2838G>A (n.2838G>A)
c.2896G>A (p.Val966Met)
c.3494G>A (p.Ser1165Asn)
c.2999G>A (p.Ser1000Asn)
c.3512G>A (p.Ser1171Asn)
c.3230G>A (p.Ser1077Asn)
c.3374G>A (p.Ser1125Asn)
c.3371G>A (p.Ser1124Asn)
c.3233G>A (p.Ser1078Asn)
c.2906G>A (p.Ser969Asn)
c.2903G>A (p.Ser968Asn)
c.3002G>A (p.Ser1001Asn)
c.*2930G>A (n.*2930G>A)
c.2106+182571G>A (n.2106+182571G>A)
c.652G>A
 dbSNP
3g.184327278G>CCA355414233EIF2B5,EIF4G1c.3491G>C (p.Ser1164Thr)
c.3425G>C (p.Ser1142Thr)
c.2838G>C (n.2838G>C)
c.2896G>C (p.Val966Leu)
c.3494G>C (p.Ser1165Thr)
c.2999G>C (p.Ser1000Thr)
c.3512G>C (p.Ser1171Thr)
c.3230G>C (p.Ser1077Thr)
c.3374G>C (p.Ser1125Thr)
c.3371G>C (p.Ser1124Thr)
c.3233G>C (p.Ser1078Thr)
c.2906G>C (p.Ser969Thr)
c.2903G>C (p.Ser968Thr)
c.3002G>C (p.Ser1001Thr)
c.*2930G>C (n.*2930G>C)
c.2106+182571G>C (n.2106+182571G>C)
c.652G>C
3g.184327278G=CA1425958206EIF2B5,EIF4G1c.3491G= (p.Ser1164=)
c.3425G= (p.Ser1142=)
c.2838G= (n.2838G=)
c.2896G= (p.Val966=)
c.3494G= (p.Ser1165=)
c.2999G= (p.Ser1000=)
c.3512G= (p.Ser1171=)
c.3230G= (p.Ser1077=)
c.3374G= (p.Ser1125=)
c.3371G= (p.Ser1124=)
c.3233G= (p.Ser1078=)
c.2906G= (p.Ser969=)
c.2903G= (p.Ser968=)
c.3002G= (p.Ser1001=)
c.*2930G= (n.*2930G=)
c.2106+182571G= (n.2106+182571G=)
c.652G=
3g.184327278G>TCA355414240EIF2B5,EIF4G1c.3491G>T (p.Ser1164Ile)
c.3425G>T (p.Ser1142Ile)
c.2838G>T (n.2838G>T)
c.2896G>T (p.Val966Leu)
c.3494G>T (p.Ser1165Ile)
c.2999G>T (p.Ser1000Ile)
c.3512G>T (p.Ser1171Ile)
c.3230G>T (p.Ser1077Ile)
c.3374G>T (p.Ser1125Ile)
c.3371G>T (p.Ser1124Ile)
c.3233G>T (p.Ser1078Ile)
c.2906G>T (p.Ser969Ile)
c.2903G>T (p.Ser968Ile)
c.3002G>T (p.Ser1001Ile)
c.*2930G>T (n.*2930G>T)
c.2106+182571G>T (n.2106+182571G>T)
c.652G>T
3g.184327279T>ACA88867554EIF2B5,EIF4G1c.3492T>A (p.Ser1164Arg)
c.3426T>A (p.Ser1142Arg)
c.2839T>A (n.2839T>A)
c.2897T>A (p.Val966Glu)
c.3495T>A (p.Ser1165Arg)
c.3000T>A (p.Ser1000Arg)
c.3513T>A (p.Ser1171Arg)
c.3231T>A (p.Ser1077Arg)
c.3375T>A (p.Ser1125Arg)
c.3372T>A (p.Ser1124Arg)
c.3234T>A (p.Ser1078Arg)
c.2907T>A (p.Ser969Arg)
c.2904T>A (p.Ser968Arg)
c.3003T>A (p.Ser1001Arg)
c.*2931T>A (n.*2931T>A)
c.2106+182572T>A (n.2106+182572T>A)
c.653T>A
 dbSNP
3g.184327279T>CCA355414248EIF2B5,EIF4G1c.3492T>C (p.Ser1164=)
c.3426T>C (p.Ser1142=)
c.2839T>C (n.2839T>C)
c.2897T>C (p.Val966Ala)
c.3495T>C (p.Ser1165=)
c.3000T>C (p.Ser1000=)
c.3513T>C (p.Ser1171=)
c.3231T>C (p.Ser1077=)
c.3375T>C (p.Ser1125=)
c.3372T>C (p.Ser1124=)
c.3234T>C (p.Ser1078=)
c.2907T>C (p.Ser969=)
c.2904T>C (p.Ser968=)
c.3003T>C (p.Ser1001=)
c.*2931T>C (n.*2931T>C)
c.2106+182572T>C (n.2106+182572T>C)
c.653T>C
 gnomAD v4
3g.184327279T>GCA355414249EIF2B5,EIF4G1c.3492T>G (p.Ser1164Arg)
c.3426T>G (p.Ser1142Arg)
c.2839T>G (n.2839T>G)
c.2897T>G (p.Val966Gly)
c.3495T>G (p.Ser1165Arg)
c.3000T>G (p.Ser1000Arg)
c.3513T>G (p.Ser1171Arg)
c.3231T>G (p.Ser1077Arg)
c.3375T>G (p.Ser1125Arg)
c.3372T>G (p.Ser1124Arg)
c.3234T>G (p.Ser1078Arg)
c.2907T>G (p.Ser969Arg)
c.2904T>G (p.Ser968Arg)
c.3003T>G (p.Ser1001Arg)
c.*2931T>G (n.*2931T>G)
c.2106+182572T>G (n.2106+182572T>G)
c.653T>G
3g.184327279T=CA1425958210EIF2B5,EIF4G1c.3492T= (p.Ser1164=)
c.3426T= (p.Ser1142=)
c.2839T= (n.2839T=)
c.2897T= (p.Val966=)
c.3495T= (p.Ser1165=)
c.3000T= (p.Ser1000=)
c.3513T= (p.Ser1171=)
c.3231T= (p.Ser1077=)
c.3375T= (p.Ser1125=)
c.3372T= (p.Ser1124=)
c.3234T= (p.Ser1078=)
c.2907T= (p.Ser969=)
c.2904T= (p.Ser968=)
c.3003T= (p.Ser1001=)
c.*2931T= (n.*2931T=)
c.2106+182572T= (n.2106+182572T=)
c.653T=
3g.184327280G>ACA355414255EIF2B5,EIF4G1c.3493G>A (p.Glu1165Lys)
c.3427G>A (p.Glu1143Lys)
c.2840G>A (n.2840G>A)
c.2898G>A (p.Val966=)
c.3496G>A (p.Glu1166Lys)
c.3001G>A (p.Glu1001Lys)
c.3514G>A (p.Glu1172Lys)
c.3232G>A (p.Glu1078Lys)
c.3376G>A (p.Glu1126Lys)
c.3373G>A (p.Glu1125Lys)
c.3235G>A (p.Glu1079Lys)
c.2908G>A (p.Glu970Lys)
c.2905G>A (p.Glu969Lys)
c.3004G>A (p.Glu1002Lys)
c.*2932G>A (n.*2932G>A)
c.2106+182573G>A (n.2106+182573G>A)
c.654G>A
 gnomAD v4
3g.184327280G>CCA355414257EIF2B5,EIF4G1c.3493G>C (p.Glu1165Gln)
c.3427G>C (p.Glu1143Gln)
c.2840G>C (n.2840G>C)
c.2898G>C (p.Val966=)
c.3496G>C (p.Glu1166Gln)
c.3001G>C (p.Glu1001Gln)
c.3514G>C (p.Glu1172Gln)
c.3232G>C (p.Glu1078Gln)
c.3376G>C (p.Glu1126Gln)
c.3373G>C (p.Glu1125Gln)
c.3235G>C (p.Glu1079Gln)
c.2908G>C (p.Glu970Gln)
c.2905G>C (p.Glu969Gln)
c.3004G>C (p.Glu1002Gln)
c.*2932G>C (n.*2932G>C)
c.2106+182573G>C (n.2106+182573G>C)
c.654G>C
 dbSNP
3g.184327280G=CA1425958214EIF2B5,EIF4G1c.3493G= (p.Glu1165=)
c.3427G= (p.Glu1143=)
c.2840G= (n.2840G=)
c.2898G= (p.Val966=)
c.3496G= (p.Glu1166=)
c.3001G= (p.Glu1001=)
c.3514G= (p.Glu1172=)
c.3232G= (p.Glu1078=)
c.3376G= (p.Glu1126=)
c.3373G= (p.Glu1125=)
c.3235G= (p.Glu1079=)
c.2908G= (p.Glu970=)
c.2905G= (p.Glu969=)
c.3004G= (p.Glu1002=)
c.*2932G= (n.*2932G=)
c.2106+182573G= (n.2106+182573G=)
c.654G=
3g.184327280G>TCA355414258EIF2B5,EIF4G1c.3493G>T (p.Glu1165Ter)
c.3427G>T (p.Glu1143Ter)
c.2840G>T (n.2840G>T)
c.2898G>T (p.Val966=)
c.3496G>T (p.Glu1166Ter)
c.3001G>T (p.Glu1001Ter)
c.3514G>T (p.Glu1172Ter)
c.3232G>T (p.Glu1078Ter)
c.3376G>T (p.Glu1126Ter)
c.3373G>T (p.Glu1125Ter)
c.3235G>T (p.Glu1079Ter)
c.2908G>T (p.Glu970Ter)
c.2905G>T (p.Glu969Ter)
c.3004G>T (p.Glu1002Ter)
c.*2932G>T (n.*2932G>T)
c.2106+182573G>T (n.2106+182573G>T)
c.654G>T

Number of alleles fetched