Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.184327207_184327210dup | CA2668840175 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327207_184327210del | CA548795599 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327202T>C | CA2732803 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327202T= | CA1425958088 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327202dup | CA903714376 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327203G>C | CA2668840180 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327205C= | CA1425958091 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327205C>G | CA88867404 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327205C>T | CA2732804 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327206T>A | CA2838433372 | EIF2B5,EIF4G1 | c.3429-10T>A (n.3429-10T>A) c.3363-10T>A (n.3363-10T>A) c.2776-10T>A (n.2776-10T>A) c.2835-10T>A (n.2835-10T>A) c.3432-10T>A (n.3432-10T>A) c.2937-10T>A (n.2937-10T>A) c.3450-10T>A (n.3450-10T>A) c.3168-10T>A (n.3168-10T>A) c.3312-10T>A (n.3312-10T>A) c.3309-10T>A (n.3309-10T>A) c.3171-10T>A (n.3171-10T>A) c.2844-10T>A (n.2844-10T>A) c.2841-10T>A (n.2841-10T>A) c.2940-10T>A (n.2940-10T>A) c.*2868-10T>A (n.*2868-10T>A) c.2106+182499T>A (n.2106+182499T>A) c.590-10T>A | |
3 | g.184327206T>G | CA2732805 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327206T= | CA1425958093 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327207G>A | CA2732806 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327207G= | CA1425958094 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327207G>T | CA2704724918 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327208T>C | CA2668840225 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327210_184327211insCTCT | CA88867433 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327209C= | CA1425958096 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327209C>T | CA1425958097 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327211T>G | CA2732807 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327211T= | CA1425958098 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327212C= | CA1425958100 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327212C>G | CA2577978168 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327212C>T | CA2732808 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327213C= | CA1425958102 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327213C>T | CA548795601 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327213_184327216delinsCAGG | CA1425958103 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327214A>C | CA355413787 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327214A>G | CA355413791 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327214A>T | CA355413792 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327216_184327218del | CA2732809 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327215G>A | CA355413793 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327215G>C | CA355413794 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327215G>T | CA355413795 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327216G>A | CA2732810 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327216G>C | CA355413801 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327216G= | CA1425958109 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327216G>T | CA355413809 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327217A>C | CA355413812 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327217A>G | CA355413816 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327217A>T | CA355413814 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327218G>A | CA355413819 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327218G>C | CA355413825 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327218G>T | CA355413821 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327219T>A | CA355413830 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327219T>C | CA437330250 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327219T>G | CA355413835 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327219T= | CA1425958114 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327220A>C | CA355413837 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327220A>G | CA355413840 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327220A>T | CA355413843 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327221G>A | CA355413847 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327221G>C | CA355413849 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327221G>T | CA355413851 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327222C>A | CA355413854 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327222C>G | CA355413857 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327222C>T | CA437330251 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327223T>A | CA355413860 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327223T>C | CA437330252 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327223T>G | CA355413863 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327224T>A | CA355413867 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327224T>C | CA355413873 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327224T>G | CA355413870 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327225G>A | CA437330253 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327225G>C | CA355413875 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327225G>T | CA355413879 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327226A>C | CA355413883 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327226A>G | CA355413885 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327226A>T | CA355413891 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327227G>A | CA355413894 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327227G>C | CA355413895 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327227G>T | CA355413897 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327228C>A | CA355413899 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327228C= | CA1425958117 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327228C>G | CA355413902 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327228C>T | CA437330255 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327229C>A | CA437330256 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327229C>G | CA355413906 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327229C>T | CA355413904 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327230G>A | CA2732811 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327230G>C | CA355413910 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327230G= | CA1425958120 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327230G>T | CA355413912 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327234_184327254del | CA2668840285 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327231A>C | CA437330257 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327231A>G | CA437330258 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327231A>T | CA437330259 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327232G>A | CA355413915 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327232G>C | CA355413917 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327232G>T | CA355413919 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327233A>C | CA355413922 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327233A>G | CA355413924 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327233A>T | CA355413926 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327234A>C | CA355413928 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327234A>G | CA437330266 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327234A>T | CA355413931 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327235C>A | CA437330267 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327235C= | CA1425958123 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327235C>G | CA2732812 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327235C>T | CA355413935 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327236G>A | CA2732813 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327236G>C | CA355413942 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327236G= | CA1425958126 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327236G>T | CA355413944 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327237A>C | CA437330272 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327237A>G | CA437330270 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327237A>T | CA437330269 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327238G>A | CA355413946 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327238G>C | CA355413954 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327238G>T | CA355413957 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327239G>A | CA355413959 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327239G>C | CA355413962 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327239G= | CA1425958127 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327239G>T | CA355413964 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327240C>A | CA437330274 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327240C= | CA1425958131 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327240C>G | CA2732815 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327240C>T | CA2732814 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327241G>A | CA355413971 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327241G>C | CA355413973 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327241G= | CA1425958135 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327241G>T | CA355413975 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327242A>C | CA355413984 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327242A>G | CA355413981 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327242A>T | CA355413979 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327243G>A | CA437330277 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327243G>C | CA355413987 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327243G>T | CA355413989 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327244A= | CA1425958138 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327244A>C | CA355413992 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327244A>G | CA2732816 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327244A>T | CA355413996 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327245A>C | CA355413999 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327245A>G | CA355414002 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327245A>T | CA355414004 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327246A>C | CA355414006 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327246A>G | CA437330278 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327246A>T | CA355414008 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327247G>A | CA2732817 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327247G>C | CA355414012 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327247G= | CA1425958141 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327247G>T | CA355414013 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327248C>A | CA355414016 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327248C= | CA1425958146 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327248C>G | CA355414018 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327248C>T | CA88867464 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327249T>A | CA437330279 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327249T>C | CA2732818 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327249T>G | CA437330280 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327249T= | CA1425958152 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327249_184327258delinsTGGAGACCGA | CA1425958154 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327250G>A | CA355414023 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327250G>C | CA355414026 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327250G>T | CA355414028 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327258_184327266del | CA2732819 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327251G>A | CA355414032 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327251G>C | CA355414036 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327251G>T | CA355414039 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327252A>C | CA437330282 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327252A>G | CA437330283 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327252A>T | CA437330284 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327253G>A | CA355414042 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327253G>C | CA355414043 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327253G>T | CA355414044 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327254A>C | CA355414045 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327254A>G | CA355414048 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327254A>T | CA355414051 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327255C>A | CA355414064 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327255C>G | CA355414054 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327255C>T | CA437330288 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327256C>A | CA437330289 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327256C= | CA1425958158 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327256C>G | CA2732820 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327256C>T | CA355414069 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327257G>A | CA355414074 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327257G>C | CA355414076 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327257G= | CA1425958162 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327257G>T | CA355414079 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327258A>C | CA437330292 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327258A>G | CA437330291 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327258A>T | CA437330290 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327259G>A | CA355414084 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327259G>C | CA355414087 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327259G= | CA1425958165 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327259G>T | CA355414092 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327263_184327289del | CA2759716609 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327260G>A | CA355414097 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327260G>C | CA355414105 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327260G>T | CA355414103 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327261A= | CA1425958169 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327261A>C | CA437330294 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327261A>G | CA2732821 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327261A>T | CA437330295 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327262G>A | CA355414116 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327262G>C | CA355414118 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327262G>T | CA355414120 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327263A>C | CA355414125 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327263A>G | CA355414127 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327263A>T | CA355414126 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327264C>A | CA355414128 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327264C= | CA1425958171 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327264C>G | CA355414129 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327264C>T | CA437330299 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327265C>A | CA355414131 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327265C= | CA1425958175 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327265C>G | CA355414133 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327265C>T | CA355414136 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327266G>A | CA2732822 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327266G>C | CA355414141 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327266G= | CA1425958178 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327266G>T | CA355414144 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327267C>A | CA437330300 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327267C= | CA1425958182 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327267C>G | CA437330301 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327267C>T | CA88867507 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327268C>A | CA355414151 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327268C= | CA1425958184 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327268C>G | CA355414153 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327268C>T | CA437330303 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327269T>A | CA355414157 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327269T>C | CA2732823 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327269T>G | CA355414159 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327269T= | CA1425958187 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327270A>C | CA437330305 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327270A>G | CA437330306 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327270A>T | CA437330307 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327271G>A | CA355414167 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327271G>C | CA2732824 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327271G= | CA1425958192 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327271G>T | CA355414170 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327272A>C | CA355414171 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327272A>G | CA355414172 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327272A>T | CA355414176 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327273G>A | CA437330309 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327273G>C | CA355414179 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327273G= | CA1425958196 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327273G>T | CA355414183 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327274C>A | CA437330311 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327274C= | CA1425958198 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327274C>G | CA355414186 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327274C>T | CA2732825 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327275G>A | CA2732826 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327275G>C | CA355414204 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327275G= | CA1425958201 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327275G>T | CA355414208 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327276G>A | CA355414211 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327276G>C | CA355414215 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327276G>T | CA355414218 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327277A= | CA1425958203 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327277A>C | CA88867551 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327277A>G | CA355414230 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327277A>T | CA355414225 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327278G>A | CA355414231 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327278G>C | CA355414233 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327278G= | CA1425958206 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327278G>T | CA355414240 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327279T>A | CA88867554 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327279T>C | CA355414248 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327279T>G | CA355414249 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327279T= | CA1425958210 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327280G>A | CA355414255 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327280G>C | CA355414257 | EIF2B5,EIF4G1 | c.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 |
3 | g.184327280G= | CA1425958214 | EIF2B5,EIF4G1 | c.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= | |
3 | g.184327280G>T | CA355414258 | EIF2B5,EIF4G1 | c.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 | |
3 | g.184327281A>C | CA355414267 | EIF2B5,EIF4G1 | c.3494A>C (p.Glu1165Ala) c.3428A>C (p.Glu1143Ala) c.2841A>C (n.2841A>C) c.2899A>C (p.Asn967His) c.3497A>C (p.Glu1166Ala) c.3002A>C (p.Glu1001Ala) c.3515A>C (p.Glu1172Ala) c.3233A>C (p.Glu1078Ala) c.3377A>C (p.Glu1126Ala) c.3374A>C (p.Glu1125Ala) c.3236A>C (p.Glu1079Ala) c.2909A>C (p.Glu970Ala) c.2906A>C (p.Glu969Ala) c.3005A>C (p.Glu1002Ala) c.*2933A>C (n.*2933A>C) c.2106+182574A>C (n.2106+182574A>C) c.655A>C | |
3 | g.184327281A>G | CA355414262 | EIF2B5,EIF4G1 | c.3494A>G (p.Glu1165Gly) c.3428A>G (p.Glu1143Gly) c.2841A>G (n.2841A>G) c.2899A>G (p.Asn967Asp) c.3497A>G (p.Glu1166Gly) c.3002A>G (p.Glu1001Gly) c.3515A>G (p.Glu1172Gly) c.3233A>G (p.Glu1078Gly) c.3377A>G (p.Glu1126Gly) c.3374A>G (p.Glu1125Gly) c.3236A>G (p.Glu1079Gly) c.2909A>G (p.Glu970Gly) c.2906A>G (p.Glu969Gly) c.3005A>G (p.Glu1002Gly) c.*2933A>G (n.*2933A>G) c.2106+182574A>G (n.2106+182574A>G) c.655A>G | |
3 | g.184327281A>T | CA355414260 | EIF2B5,EIF4G1 | c.3494A>T (p.Glu1165Val) c.3428A>T (p.Glu1143Val) c.2841A>T (n.2841A>T) c.2899A>T (p.Asn967Tyr) c.3497A>T (p.Glu1166Val) c.3002A>T (p.Glu1001Val) c.3515A>T (p.Glu1172Val) c.3233A>T (p.Glu1078Val) c.3377A>T (p.Glu1126Val) c.3374A>T (p.Glu1125Val) c.3236A>T (p.Glu1079Val) c.2909A>T (p.Glu970Val) c.2906A>T (p.Glu969Val) c.3005A>T (p.Glu1002Val) c.*2933A>T (n.*2933A>T) c.2106+182574A>T (n.2106+182574A>T) c.655A>T | |
3 | g.184327282A>C | CA355414271 | EIF2B5,EIF4G1 | c.3495A>C (p.Glu1165Asp) c.3429A>C (p.Glu1143Asp) c.2842A>C (n.2842A>C) c.2900A>C (p.Asn967Thr) c.3498A>C (p.Glu1166Asp) c.3003A>C (p.Glu1001Asp) c.3516A>C (p.Glu1172Asp) c.3234A>C (p.Glu1078Asp) c.3378A>C (p.Glu1126Asp) c.3375A>C (p.Glu1125Asp) c.3237A>C (p.Glu1079Asp) c.2910A>C (p.Glu970Asp) c.2907A>C (p.Glu969Asp) c.3006A>C (p.Glu1002Asp) c.*2934A>C (n.*2934A>C) c.2106+182575A>C (n.2106+182575A>C) c.656A>C | |
3 | g.184327282A>G | CA355414273 | EIF2B5,EIF4G1 | c.3495A>G (p.Glu1165=) c.3429A>G (p.Glu1143=) c.2842A>G (n.2842A>G) c.2900A>G (p.Asn967Ser) c.3498A>G (p.Glu1166=) c.3003A>G (p.Glu1001=) c.3516A>G (p.Glu1172=) c.3234A>G (p.Glu1078=) c.3378A>G (p.Glu1126=) c.3375A>G (p.Glu1125=) c.3237A>G (p.Glu1079=) c.2910A>G (p.Glu970=) c.2907A>G (p.Glu969=) c.3006A>G (p.Glu1002=) c.*2934A>G (n.*2934A>G) c.2106+182575A>G (n.2106+182575A>G) c.656A>G | |
3 | g.184327282A>T | CA355414279 | EIF2B5,EIF4G1 | c.3495A>T (p.Glu1165Asp) c.3429A>T (p.Glu1143Asp) c.2842A>T (n.2842A>T) c.2900A>T (p.Asn967Ile) c.3498A>T (p.Glu1166Asp) c.3003A>T (p.Glu1001Asp) c.3516A>T (p.Glu1172Asp) c.3234A>T (p.Glu1078Asp) c.3378A>T (p.Glu1126Asp) c.3375A>T (p.Glu1125Asp) c.3237A>T (p.Glu1079Asp) c.2910A>T (p.Glu970Asp) c.2907A>T (p.Glu969Asp) c.3006A>T (p.Glu1002Asp) c.*2934A>T (n.*2934A>T) c.2106+182575A>T (n.2106+182575A>T) c.656A>T | |
3 | g.184327283C>A | CA355414280 | EIF2B5,EIF4G1 | c.3496C>A (p.Arg1166=) c.3430C>A (p.Arg1144=) c.2843C>A (n.2843C>A) c.2901C>A (p.Asn967Lys) c.3499C>A (p.Arg1167=) c.3004C>A (p.Arg1002=) c.3517C>A (p.Arg1173=) c.3235C>A (p.Arg1079=) c.3379C>A (p.Arg1127=) c.3376C>A (p.Arg1126=) c.3238C>A (p.Arg1080=) c.2911C>A (p.Arg971=) c.2908C>A (p.Arg970=) c.3007C>A (p.Arg1003=) c.*2935C>A (n.*2935C>A) c.2106+182576C>A (n.2106+182576C>A) c.657C>A | gnomAD v4 |
3 | g.184327283C= | CA1425958218 | EIF2B5,EIF4G1 | c.3496C= (p.Arg1166=) c.3430C= (p.Arg1144=) c.2843C= (n.2843C=) c.2901C= (p.Asn967=) c.3499C= (p.Arg1167=) c.3004C= (p.Arg1002=) c.3517C= (p.Arg1173=) c.3235C= (p.Arg1079=) c.3379C= (p.Arg1127=) c.3376C= (p.Arg1126=) c.3238C= (p.Arg1080=) c.2911C= (p.Arg971=) c.2908C= (p.Arg970=) c.3007C= (p.Arg1003=) c.*2935C= (n.*2935C=) c.2106+182576C= (n.2106+182576C=) c.657C= | |
3 | g.184327283C>G | CA355414281 | EIF2B5,EIF4G1 | c.3496C>G (p.Arg1166Gly) c.3430C>G (p.Arg1144Gly) c.2843C>G (n.2843C>G) c.2901C>G (p.Asn967Lys) c.3499C>G (p.Arg1167Gly) c.3004C>G (p.Arg1002Gly) c.3517C>G (p.Arg1173Gly) c.3235C>G (p.Arg1079Gly) c.3379C>G (p.Arg1127Gly) c.3376C>G (p.Arg1126Gly) c.3238C>G (p.Arg1080Gly) c.2911C>G (p.Arg971Gly) c.2908C>G (p.Arg970Gly) c.3007C>G (p.Arg1003Gly) c.*2935C>G (n.*2935C>G) c.2106+182576C>G (n.2106+182576C>G) c.657C>G | |
3 | g.184327283C>T | CA2732827 | EIF2B5,EIF4G1 | c.3496C>T (p.Arg1166Trp) c.3430C>T (p.Arg1144Trp) c.2843C>T (n.2843C>T) c.2901C>T (p.Asn967=) c.3499C>T (p.Arg1167Trp) c.3004C>T (p.Arg1002Trp) c.3517C>T (p.Arg1173Trp) c.3235C>T (p.Arg1079Trp) c.3379C>T (p.Arg1127Trp) c.3376C>T (p.Arg1126Trp) c.3238C>T (p.Arg1080Trp) c.2911C>T (p.Arg971Trp) c.2908C>T (p.Arg970Trp) c.3007C>T (p.Arg1003Trp) c.*2935C>T (n.*2935C>T) c.2106+182576C>T (n.2106+182576C>T) c.657C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.184327284G>A | CA2732828 | EIF2B5,EIF4G1 | c.3497G>A (p.Arg1166Gln) c.3431G>A (p.Arg1144Gln) c.2844G>A (n.2844G>A) c.2902G>A (p.Gly968Arg) c.3500G>A (p.Arg1167Gln) c.3005G>A (p.Arg1002Gln) c.3518G>A (p.Arg1173Gln) c.3236G>A (p.Arg1079Gln) c.3380G>A (p.Arg1127Gln) c.3377G>A (p.Arg1126Gln) c.3239G>A (p.Arg1080Gln) c.2912G>A (p.Arg971Gln) c.2909G>A (p.Arg970Gln) c.3008G>A (p.Arg1003Gln) c.*2936G>A (n.*2936G>A) c.2106+182577G>A (n.2106+182577G>A) c.658G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327284G>C | CA355414286 | EIF2B5,EIF4G1 | c.3497G>C (p.Arg1166Pro) c.3431G>C (p.Arg1144Pro) c.2844G>C (n.2844G>C) c.2902G>C (p.Gly968Arg) c.3500G>C (p.Arg1167Pro) c.3005G>C (p.Arg1002Pro) c.3518G>C (p.Arg1173Pro) c.3236G>C (p.Arg1079Pro) c.3380G>C (p.Arg1127Pro) c.3377G>C (p.Arg1126Pro) c.3239G>C (p.Arg1080Pro) c.2912G>C (p.Arg971Pro) c.2909G>C (p.Arg970Pro) c.3008G>C (p.Arg1003Pro) c.*2936G>C (n.*2936G>C) c.2106+182577G>C (n.2106+182577G>C) c.658G>C | gnomAD v4 |
3 | g.184327284G= | CA1425958221 | EIF2B5,EIF4G1 | c.3497G= (p.Arg1166=) c.3431G= (p.Arg1144=) c.2844G= (n.2844G=) c.2902G= (p.Gly968=) c.3500G= (p.Arg1167=) c.3005G= (p.Arg1002=) c.3518G= (p.Arg1173=) c.3236G= (p.Arg1079=) c.3380G= (p.Arg1127=) c.3377G= (p.Arg1126=) c.3239G= (p.Arg1080=) c.2912G= (p.Arg971=) c.2909G= (p.Arg970=) c.3008G= (p.Arg1003=) c.*2936G= (n.*2936G=) c.2106+182577G= (n.2106+182577G=) c.658G= | |
3 | g.184327284G>T | CA355414290 | EIF2B5,EIF4G1 | c.3497G>T (p.Arg1166Leu) c.3431G>T (p.Arg1144Leu) c.2844G>T (n.2844G>T) c.2902G>T (p.Gly968Trp) c.3500G>T (p.Arg1167Leu) c.3005G>T (p.Arg1002Leu) c.3518G>T (p.Arg1173Leu) c.3236G>T (p.Arg1079Leu) c.3380G>T (p.Arg1127Leu) c.3377G>T (p.Arg1126Leu) c.3239G>T (p.Arg1080Leu) c.2912G>T (p.Arg971Leu) c.2909G>T (p.Arg970Leu) c.3008G>T (p.Arg1003Leu) c.*2936G>T (n.*2936G>T) c.2106+182577G>T (n.2106+182577G>T) c.658G>T | |
3 | g.184327285G>A | CA355414295 | EIF2B5,EIF4G1 | c.3498G>A (p.Arg1166=) c.3432G>A (p.Arg1144=) c.2845G>A (n.2845G>A) c.2903G>A (p.Gly968Glu) c.3501G>A (p.Arg1167=) c.3006G>A (p.Arg1002=) c.3519G>A (p.Arg1173=) c.3237G>A (p.Arg1079=) c.3381G>A (p.Arg1127=) c.3378G>A (p.Arg1126=) c.3240G>A (p.Arg1080=) c.2913G>A (p.Arg971=) c.2910G>A (p.Arg970=) c.3009G>A (p.Arg1003=) c.*2937G>A (n.*2937G>A) c.2106+182578G>A (n.2106+182578G>A) c.659G>A | gnomAD v4 |
3 | g.184327285G>C | CA355414299 | EIF2B5,EIF4G1 | c.3498G>C (p.Arg1166=) c.3432G>C (p.Arg1144=) c.2845G>C (n.2845G>C) c.2903G>C (p.Gly968Ala) c.3501G>C (p.Arg1167=) c.3006G>C (p.Arg1002=) c.3519G>C (p.Arg1173=) c.3237G>C (p.Arg1079=) c.3381G>C (p.Arg1127=) c.3378G>C (p.Arg1126=) c.3240G>C (p.Arg1080=) c.2913G>C (p.Arg971=) c.2910G>C (p.Arg970=) c.3009G>C (p.Arg1003=) c.*2937G>C (n.*2937G>C) c.2106+182578G>C (n.2106+182578G>C) c.659G>C | |
3 | g.184327285G>T | CA355414302 | EIF2B5,EIF4G1 | c.3498G>T (p.Arg1166=) c.3432G>T (p.Arg1144=) c.2845G>T (n.2845G>T) c.2903G>T (p.Gly968Val) c.3501G>T (p.Arg1167=) c.3006G>T (p.Arg1002=) c.3519G>T (p.Arg1173=) c.3237G>T (p.Arg1079=) c.3381G>T (p.Arg1127=) c.3378G>T (p.Arg1126=) c.3240G>T (p.Arg1080=) c.2913G>T (p.Arg971=) c.2910G>T (p.Arg970=) c.3009G>T (p.Arg1003=) c.*2937G>T (n.*2937G>T) c.2106+182578G>T (n.2106+182578G>T) c.659G>T | |
3 | g.184327286G>A | CA355414312 | EIF2B5,EIF4G1 | c.3499G>A (p.Gly1167Arg) c.3433G>A (p.Gly1145Arg) c.2846G>A (n.2846G>A) c.2904G>A (p.Gly968=) c.3502G>A (p.Gly1168Arg) c.3007G>A (p.Gly1003Arg) c.3520G>A (p.Gly1174Arg) c.3238G>A (p.Gly1080Arg) c.3382G>A (p.Gly1128Arg) c.3379G>A (p.Gly1127Arg) c.3241G>A (p.Gly1081Arg) c.2914G>A (p.Gly972Arg) c.2911G>A (p.Gly971Arg) c.3010G>A (p.Gly1004Arg) c.*2938G>A (n.*2938G>A) c.2106+182579G>A (n.2106+182579G>A) c.660G>A n.1G>A | dbSNP |
3 | g.184327286G>C | CA355414306 | EIF2B5,EIF4G1 | c.3499G>C (p.Gly1167Arg) c.3433G>C (p.Gly1145Arg) c.2846G>C (n.2846G>C) c.2904G>C (p.Gly968=) c.3502G>C (p.Gly1168Arg) c.3007G>C (p.Gly1003Arg) c.3520G>C (p.Gly1174Arg) c.3238G>C (p.Gly1080Arg) c.3382G>C (p.Gly1128Arg) c.3379G>C (p.Gly1127Arg) c.3241G>C (p.Gly1081Arg) c.2914G>C (p.Gly972Arg) c.2911G>C (p.Gly971Arg) c.3010G>C (p.Gly1004Arg) c.*2938G>C (n.*2938G>C) c.2106+182579G>C (n.2106+182579G>C) c.660G>C n.1G>C | |
3 | g.184327286G= | CA1425958223 | EIF2B5,EIF4G1 | c.3499G= (p.Gly1167=) c.3433G= (p.Gly1145=) c.2846G= (n.2846G=) c.2904G= (p.Gly968=) c.3502G= (p.Gly1168=) c.3007G= (p.Gly1003=) c.3520G= (p.Gly1174=) c.3238G= (p.Gly1080=) c.3382G= (p.Gly1128=) c.3379G= (p.Gly1127=) c.3241G= (p.Gly1081=) c.2914G= (p.Gly972=) c.2911G= (p.Gly971=) c.3010G= (p.Gly1004=) c.*2938G= (n.*2938G=) c.2106+182579G= (n.2106+182579G=) c.660G= n.1G= | |
3 | g.184327286G>T | CA355414307 | EIF2B5,EIF4G1 | c.3499G>T (p.Gly1167Ter) c.3433G>T (p.Gly1145Ter) c.2846G>T (n.2846G>T) c.2904G>T (p.Gly968=) c.3502G>T (p.Gly1168Ter) c.3007G>T (p.Gly1003Ter) c.3520G>T (p.Gly1174Ter) c.3238G>T (p.Gly1080Ter) c.3382G>T (p.Gly1128Ter) c.3379G>T (p.Gly1127Ter) c.3241G>T (p.Gly1081Ter) c.2914G>T (p.Gly972Ter) c.2911G>T (p.Gly971Ter) c.3010G>T (p.Gly1004Ter) c.*2938G>T (n.*2938G>T) c.2106+182579G>T (n.2106+182579G>T) c.660G>T n.1G>T | |
3 | g.184327287G>A | CA355414315 | EIF2B5,EIF4G1 | c.3500G>A (p.Gly1167Glu) c.3434G>A (p.Gly1145Glu) c.2847G>A (n.2847G>A) c.2905G>A (p.Glu969Lys) c.3503G>A (p.Gly1168Glu) c.3008G>A (p.Gly1003Glu) c.3521G>A (p.Gly1174Glu) c.3239G>A (p.Gly1080Glu) c.3383G>A (p.Gly1128Glu) c.3380G>A (p.Gly1127Glu) c.3242G>A (p.Gly1081Glu) c.2915G>A (p.Gly972Glu) c.2912G>A (p.Gly971Glu) c.3011G>A (p.Gly1004Glu) c.*2939G>A (n.*2939G>A) c.2106+182580G>A (n.2106+182580G>A) c.661G>A n.2G>A | dbSNP |
3 | g.184327287G>C | CA355414327 | EIF2B5,EIF4G1 | c.3500G>C (p.Gly1167Ala) c.3434G>C (p.Gly1145Ala) c.2847G>C (n.2847G>C) c.2905G>C (p.Glu969Gln) c.3503G>C (p.Gly1168Ala) c.3008G>C (p.Gly1003Ala) c.3521G>C (p.Gly1174Ala) c.3239G>C (p.Gly1080Ala) c.3383G>C (p.Gly1128Ala) c.3380G>C (p.Gly1127Ala) c.3242G>C (p.Gly1081Ala) c.2915G>C (p.Gly972Ala) c.2912G>C (p.Gly971Ala) c.3011G>C (p.Gly1004Ala) c.*2939G>C (n.*2939G>C) c.2106+182580G>C (n.2106+182580G>C) c.661G>C n.2G>C | |
3 | g.184327287G= | CA1425958225 | EIF2B5,EIF4G1 | c.3500G= (p.Gly1167=) c.3434G= (p.Gly1145=) c.2847G= (n.2847G=) c.2905G= (p.Glu969=) c.3503G= (p.Gly1168=) c.3008G= (p.Gly1003=) c.3521G= (p.Gly1174=) c.3239G= (p.Gly1080=) c.3383G= (p.Gly1128=) c.3380G= (p.Gly1127=) c.3242G= (p.Gly1081=) c.2915G= (p.Gly972=) c.2912G= (p.Gly971=) c.3011G= (p.Gly1004=) c.*2939G= (n.*2939G=) c.2106+182580G= (n.2106+182580G=) c.661G= n.2G= | |
3 | g.184327287G>T | CA355414328 | EIF2B5,EIF4G1 | c.3500G>T (p.Gly1167Val) c.3434G>T (p.Gly1145Val) c.2847G>T (n.2847G>T) c.2905G>T (p.Glu969Ter) c.3503G>T (p.Gly1168Val) c.3008G>T (p.Gly1003Val) c.3521G>T (p.Gly1174Val) c.3239G>T (p.Gly1080Val) c.3383G>T (p.Gly1128Val) c.3380G>T (p.Gly1127Val) c.3242G>T (p.Gly1081Val) c.2915G>T (p.Gly972Val) c.2912G>T (p.Gly971Val) c.3011G>T (p.Gly1004Val) c.*2939G>T (n.*2939G>T) c.2106+182580G>T (n.2106+182580G>T) c.661G>T n.2G>T | gnomAD v4 |
3 | g.184327288A= | CA1425958228 | EIF2B5,EIF4G1 | c.3501A= (p.Gly1167=) c.3435A= (p.Gly1145=) c.2848A= (n.2848A=) c.2906A= (p.Glu969=) c.3504A= (p.Gly1168=) c.3009A= (p.Gly1003=) c.3522A= (p.Gly1174=) c.3240A= (p.Gly1080=) c.3384A= (p.Gly1128=) c.3381A= (p.Gly1127=) c.3243A= (p.Gly1081=) c.2916A= (p.Gly972=) c.2913A= (p.Gly971=) c.3012A= (p.Gly1004=) c.*2940A= (n.*2940A=) c.2106+182581A= (n.2106+182581A=) c.662A= n.3A= | |
3 | g.184327288A>C | CA355414332 | EIF2B5,EIF4G1 | c.3501A>C (p.Gly1167=) c.3435A>C (p.Gly1145=) c.2848A>C (n.2848A>C) c.2906A>C (p.Glu969Ala) c.3504A>C (p.Gly1168=) c.3009A>C (p.Gly1003=) c.3522A>C (p.Gly1174=) c.3240A>C (p.Gly1080=) c.3384A>C (p.Gly1128=) c.3381A>C (p.Gly1127=) c.3243A>C (p.Gly1081=) c.2916A>C (p.Gly972=) c.2913A>C (p.Gly971=) c.3012A>C (p.Gly1004=) c.*2940A>C (n.*2940A>C) c.2106+182581A>C (n.2106+182581A>C) c.662A>C n.3A>C | |
3 | g.184327288A>G | CA355414333 | EIF2B5,EIF4G1 | c.3501A>G (p.Gly1167=) c.3435A>G (p.Gly1145=) c.2848A>G (n.2848A>G) c.2906A>G (p.Glu969Gly) c.3504A>G (p.Gly1168=) c.3009A>G (p.Gly1003=) c.3522A>G (p.Gly1174=) c.3240A>G (p.Gly1080=) c.3384A>G (p.Gly1128=) c.3381A>G (p.Gly1127=) c.3243A>G (p.Gly1081=) c.2916A>G (p.Gly972=) c.2913A>G (p.Gly971=) c.3012A>G (p.Gly1004=) c.*2940A>G (n.*2940A>G) c.2106+182581A>G (n.2106+182581A>G) c.662A>G n.3A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184327288A>T | CA355414334 | EIF2B5,EIF4G1 | c.3501A>T (p.Gly1167=) c.3435A>T (p.Gly1145=) c.2848A>T (n.2848A>T) c.2906A>T (p.Glu969Val) c.3504A>T (p.Gly1168=) c.3009A>T (p.Gly1003=) c.3522A>T (p.Gly1174=) c.3240A>T (p.Gly1080=) c.3384A>T (p.Gly1128=) c.3381A>T (p.Gly1127=) c.3243A>T (p.Gly1081=) c.2916A>T (p.Gly972=) c.2913A>T (p.Gly971=) c.3012A>T (p.Gly1004=) c.*2940A>T (n.*2940A>T) c.2106+182581A>T (n.2106+182581A>T) c.662A>T n.3A>T | |
3 | g.184327288_184327297delinsAGGGGACCGT | CA1425958227 | EIF2B5,EIF4G1 | c.3501_3510delinsAGGGGACCGT (p.Gly1167=) c.3435_3444delinsAGGGGACCGT (p.Gly1145=) c.2848_2857delinsAGGGGACCGT (n.2848_2857delinsAGGGGACCGT) c.2906_2915delinsAGGGGACCGT (p.Glu969=) c.3504_3513delinsAGGGGACCGT (p.Gly1168=) c.3009_3018delinsAGGGGACCGT (p.Gly1003=) c.3522_3531delinsAGGGGACCGT (p.Gly1174=) c.3240_3249delinsAGGGGACCGT (p.Gly1080=) c.3384_3393delinsAGGGGACCGT (p.Gly1128=) c.3381_3390delinsAGGGGACCGT (p.Gly1127=) c.3243_3252delinsAGGGGACCGT (p.Gly1081=) c.2916_2925delinsAGGGGACCGT (p.Gly972=) c.2913_2922delinsAGGGGACCGT (p.Gly971=) c.3012_3021delinsAGGGGACCGT (p.Gly1004=) c.*2940_*2949delinsAGGGGACCGT (n.*2940_*2949delinsAGGGGACCGT) c.2106+182581_2106+182590delinsAGGGGACCGT (n.2106+182581_2106+182590delinsAGGGGACCGT) c.662_671delinsAGGGGACCGT n.3_12delinsAGGGGACCGT | |
3 | g.184327289G>A | CA355414336 | EIF2B5,EIF4G1 | c.3502G>A (p.Gly1168Arg) c.3436G>A (p.Gly1146Arg) c.2849G>A (n.2849G>A) c.2907G>A (p.Glu969=) c.3505G>A (p.Gly1169Arg) c.3010G>A (p.Gly1004Arg) c.3523G>A (p.Gly1175Arg) c.3241G>A (p.Gly1081Arg) c.3385G>A (p.Gly1129Arg) c.3382G>A (p.Gly1128Arg) c.3244G>A (p.Gly1082Arg) c.2917G>A (p.Gly973Arg) c.2914G>A (p.Gly972Arg) c.3013G>A (p.Gly1005Arg) c.*2941G>A (n.*2941G>A) c.2106+182582G>A (n.2106+182582G>A) c.663G>A n.4G>A | |
3 | g.184327289G>C | CA355414338 | EIF2B5,EIF4G1 | c.3502G>C (p.Gly1168Arg) c.3436G>C (p.Gly1146Arg) c.2849G>C (n.2849G>C) c.2907G>C (p.Glu969Asp) c.3505G>C (p.Gly1169Arg) c.3010G>C (p.Gly1004Arg) c.3523G>C (p.Gly1175Arg) c.3241G>C (p.Gly1081Arg) c.3385G>C (p.Gly1129Arg) c.3382G>C (p.Gly1128Arg) c.3244G>C (p.Gly1082Arg) c.2917G>C (p.Gly973Arg) c.2914G>C (p.Gly972Arg) c.3013G>C (p.Gly1005Arg) c.*2941G>C (n.*2941G>C) c.2106+182582G>C (n.2106+182582G>C) c.663G>C n.4G>C | |
3 | g.184327289G>T | CA355414342 | EIF2B5,EIF4G1 | c.3502G>T (p.Gly1168Trp) c.3436G>T (p.Gly1146Trp) c.2849G>T (n.2849G>T) c.2907G>T (p.Glu969Asp) c.3505G>T (p.Gly1169Trp) c.3010G>T (p.Gly1004Trp) c.3523G>T (p.Gly1175Trp) c.3241G>T (p.Gly1081Trp) c.3385G>T (p.Gly1129Trp) c.3382G>T (p.Gly1128Trp) c.3244G>T (p.Gly1082Trp) c.2917G>T (p.Gly973Trp) c.2914G>T (p.Gly972Trp) c.3013G>T (p.Gly1005Trp) c.*2941G>T (n.*2941G>T) c.2106+182582G>T (n.2106+182582G>T) c.663G>T n.4G>T | |
3 | g.184327297_184327305del | CA548795602 | EIF2B5,EIF4G1 | c.3510_3518del (p.Gly1171_Arg1173del) c.3444_3452del (p.Gly1149_Arg1151del) c.2857_2865del (n.2857_2865del) c.2915_2923del (p.Val972_Thr974del) c.3513_3521del (p.Gly1172_Arg1174del) c.3018_3026del (p.Gly1007_Arg1009del) c.3531_3539del (p.Gly1178_Arg1180del) c.3249_3257del (p.Gly1084_Arg1086del) c.3393_3401del (p.Gly1132_Arg1134del) c.3390_3398del (p.Gly1131_Arg1133del) c.3252_3260del (p.Gly1085_Arg1087del) c.2925_2933del (p.Gly976_Arg978del) c.2922_2930del (p.Gly975_Arg977del) c.3021_3029del (p.Gly1008_Arg1010del) c.*2949_*2957del (n.*2949_*2957del) c.2106+182590_2106+182598del (n.2106+182590_2106+182598del) n.12_20del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327290G>A | CA355414346 | EIF2B5,EIF4G1 | c.3503G>A (p.Gly1168Glu) c.3437G>A (p.Gly1146Glu) c.2850G>A (n.2850G>A) c.2908G>A (p.Gly970Arg) c.3506G>A (p.Gly1169Glu) c.3011G>A (p.Gly1004Glu) c.3524G>A (p.Gly1175Glu) c.3242G>A (p.Gly1081Glu) c.3386G>A (p.Gly1129Glu) c.3383G>A (p.Gly1128Glu) c.3245G>A (p.Gly1082Glu) c.2918G>A (p.Gly973Glu) c.2915G>A (p.Gly972Glu) c.3014G>A (p.Gly1005Glu) c.*2942G>A (n.*2942G>A) c.2106+182583G>A (n.2106+182583G>A) c.664G>A n.5G>A | |
3 | g.184327290G>C | CA355414349 | EIF2B5,EIF4G1 | c.3503G>C (p.Gly1168Ala) c.3437G>C (p.Gly1146Ala) c.2850G>C (n.2850G>C) c.2908G>C (p.Gly970Arg) c.3506G>C (p.Gly1169Ala) c.3011G>C (p.Gly1004Ala) c.3524G>C (p.Gly1175Ala) c.3242G>C (p.Gly1081Ala) c.3386G>C (p.Gly1129Ala) c.3383G>C (p.Gly1128Ala) c.3245G>C (p.Gly1082Ala) c.2918G>C (p.Gly973Ala) c.2915G>C (p.Gly972Ala) c.3014G>C (p.Gly1005Ala) c.*2942G>C (n.*2942G>C) c.2106+182583G>C (n.2106+182583G>C) c.664G>C n.5G>C | |
3 | g.184327290G>T | CA355414352 | EIF2B5,EIF4G1 | c.3503G>T (p.Gly1168Val) c.3437G>T (p.Gly1146Val) c.2850G>T (n.2850G>T) c.2908G>T (p.Gly970Trp) c.3506G>T (p.Gly1169Val) c.3011G>T (p.Gly1004Val) c.3524G>T (p.Gly1175Val) c.3242G>T (p.Gly1081Val) c.3386G>T (p.Gly1129Val) c.3383G>T (p.Gly1128Val) c.3245G>T (p.Gly1082Val) c.2918G>T (p.Gly973Val) c.2915G>T (p.Gly972Val) c.3014G>T (p.Gly1005Val) c.*2942G>T (n.*2942G>T) c.2106+182583G>T (n.2106+182583G>T) c.664G>T n.5G>T | |
3 | g.184327291G>A | CA355414361 | EIF2B5,EIF4G1 | c.3504G>A (p.Gly1168=) c.3438G>A (p.Gly1146=) c.2851G>A (n.2851G>A) c.2909G>A (p.Gly970Glu) c.3507G>A (p.Gly1169=) c.3012G>A (p.Gly1004=) c.3525G>A (p.Gly1175=) c.3243G>A (p.Gly1081=) c.3387G>A (p.Gly1129=) c.3384G>A (p.Gly1128=) c.3246G>A (p.Gly1082=) c.2919G>A (p.Gly973=) c.2916G>A (p.Gly972=) c.3015G>A (p.Gly1005=) c.*2943G>A (n.*2943G>A) c.2106+182584G>A (n.2106+182584G>A) c.665G>A n.6G>A | |
3 | g.184327291G>C | CA355414365 | EIF2B5,EIF4G1 | c.3504G>C (p.Gly1168=) c.3438G>C (p.Gly1146=) c.2851G>C (n.2851G>C) c.2909G>C (p.Gly970Ala) c.3507G>C (p.Gly1169=) c.3012G>C (p.Gly1004=) c.3525G>C (p.Gly1175=) c.3243G>C (p.Gly1081=) c.3387G>C (p.Gly1129=) c.3384G>C (p.Gly1128=) c.3246G>C (p.Gly1082=) c.2919G>C (p.Gly973=) c.2916G>C (p.Gly972=) c.3015G>C (p.Gly1005=) c.*2943G>C (n.*2943G>C) c.2106+182584G>C (n.2106+182584G>C) c.665G>C n.6G>C | |
3 | g.184327291G>T | CA355414358 | EIF2B5,EIF4G1 | c.3504G>T (p.Gly1168=) c.3438G>T (p.Gly1146=) c.2851G>T (n.2851G>T) c.2909G>T (p.Gly970Val) c.3507G>T (p.Gly1169=) c.3012G>T (p.Gly1004=) c.3525G>T (p.Gly1175=) c.3243G>T (p.Gly1081=) c.3387G>T (p.Gly1129=) c.3384G>T (p.Gly1128=) c.3246G>T (p.Gly1082=) c.2919G>T (p.Gly973=) c.2916G>T (p.Gly972=) c.3015G>T (p.Gly1005=) c.*2943G>T (n.*2943G>T) c.2106+182584G>T (n.2106+182584G>T) c.665G>T n.6G>T | |
3 | g.184327292G>A | CA355414391 | EIF2B5,EIF4G1 | c.3505G>A (p.Asp1169Asn) c.3439G>A (p.Asp1147Asn) c.2852G>A (n.2852G>A) c.2910G>A (p.Gly970=) c.3508G>A (p.Asp1170Asn) c.3013G>A (p.Asp1005Asn) c.3526G>A (p.Asp1176Asn) c.3244G>A (p.Asp1082Asn) c.3388G>A (p.Asp1130Asn) c.3385G>A (p.Asp1129Asn) c.3247G>A (p.Asp1083Asn) c.2920G>A (p.Asp974Asn) c.2917G>A (p.Asp973Asn) c.3016G>A (p.Asp1006Asn) c.*2944G>A (n.*2944G>A) c.2106+182585G>A (n.2106+182585G>A) c.666G>A n.7G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327292G>C | CA355414372 | EIF2B5,EIF4G1 | c.3505G>C (p.Asp1169His) c.3439G>C (p.Asp1147His) c.2852G>C (n.2852G>C) c.2910G>C (p.Gly970=) c.3508G>C (p.Asp1170His) c.3013G>C (p.Asp1005His) c.3526G>C (p.Asp1176His) c.3244G>C (p.Asp1082His) c.3388G>C (p.Asp1130His) c.3385G>C (p.Asp1129His) c.3247G>C (p.Asp1083His) c.2920G>C (p.Asp974His) c.2917G>C (p.Asp973His) c.3016G>C (p.Asp1006His) c.*2944G>C (n.*2944G>C) c.2106+182585G>C (n.2106+182585G>C) c.666G>C n.7G>C | |
3 | g.184327292G= | CA1425958232 | EIF2B5,EIF4G1 | c.3505G= (p.Asp1169=) c.3439G= (p.Asp1147=) c.2852G= (n.2852G=) c.2910G= (p.Gly970=) c.3508G= (p.Asp1170=) c.3013G= (p.Asp1005=) c.3526G= (p.Asp1176=) c.3244G= (p.Asp1082=) c.3388G= (p.Asp1130=) c.3385G= (p.Asp1129=) c.3247G= (p.Asp1083=) c.2920G= (p.Asp974=) c.2917G= (p.Asp973=) c.3016G= (p.Asp1006=) c.*2944G= (n.*2944G=) c.2106+182585G= (n.2106+182585G=) c.666G= n.7G= | |
3 | g.184327292G>T | CA355414393 | EIF2B5,EIF4G1 | c.3505G>T (p.Asp1169Tyr) c.3439G>T (p.Asp1147Tyr) c.2852G>T (n.2852G>T) c.2910G>T (p.Gly970=) c.3508G>T (p.Asp1170Tyr) c.3013G>T (p.Asp1005Tyr) c.3526G>T (p.Asp1176Tyr) c.3244G>T (p.Asp1082Tyr) c.3388G>T (p.Asp1130Tyr) c.3385G>T (p.Asp1129Tyr) c.3247G>T (p.Asp1083Tyr) c.2920G>T (p.Asp974Tyr) c.2917G>T (p.Asp973Tyr) c.3016G>T (p.Asp1006Tyr) c.*2944G>T (n.*2944G>T) c.2106+182585G>T (n.2106+182585G>T) c.666G>T n.7G>T | |
3 | g.184327293A>C | CA355414396 | EIF2B5,EIF4G1 | c.3506A>C (p.Asp1169Ala) c.3440A>C (p.Asp1147Ala) c.2853A>C (n.2853A>C) c.2911A>C (p.Thr971Pro) c.3509A>C (p.Asp1170Ala) c.3014A>C (p.Asp1005Ala) c.3527A>C (p.Asp1176Ala) c.3245A>C (p.Asp1082Ala) c.3389A>C (p.Asp1130Ala) c.3386A>C (p.Asp1129Ala) c.3248A>C (p.Asp1083Ala) c.2921A>C (p.Asp974Ala) c.2918A>C (p.Asp973Ala) c.3017A>C (p.Asp1006Ala) c.*2945A>C (n.*2945A>C) c.2106+182586A>C (n.2106+182586A>C) c.667A>C n.8A>C | |
3 | g.184327293A>G | CA355414401 | EIF2B5,EIF4G1 | c.3506A>G (p.Asp1169Gly) c.3440A>G (p.Asp1147Gly) c.2853A>G (n.2853A>G) c.2911A>G (p.Thr971Ala) c.3509A>G (p.Asp1170Gly) c.3014A>G (p.Asp1005Gly) c.3527A>G (p.Asp1176Gly) c.3245A>G (p.Asp1082Gly) c.3389A>G (p.Asp1130Gly) c.3386A>G (p.Asp1129Gly) c.3248A>G (p.Asp1083Gly) c.2921A>G (p.Asp974Gly) c.2918A>G (p.Asp973Gly) c.3017A>G (p.Asp1006Gly) c.*2945A>G (n.*2945A>G) c.2106+182586A>G (n.2106+182586A>G) c.667A>G n.8A>G | |
3 | g.184327293A>T | CA355414405 | EIF2B5,EIF4G1 | c.3506A>T (p.Asp1169Val) c.3440A>T (p.Asp1147Val) c.2853A>T (n.2853A>T) c.2911A>T (p.Thr971Ser) c.3509A>T (p.Asp1170Val) c.3014A>T (p.Asp1005Val) c.3527A>T (p.Asp1176Val) c.3245A>T (p.Asp1082Val) c.3389A>T (p.Asp1130Val) c.3386A>T (p.Asp1129Val) c.3248A>T (p.Asp1083Val) c.2921A>T (p.Asp974Val) c.2918A>T (p.Asp973Val) c.3017A>T (p.Asp1006Val) c.*2945A>T (n.*2945A>T) c.2106+182586A>T (n.2106+182586A>T) c.667A>T n.8A>T | |
3 | g.184327294C>A | CA355414408 | EIF2B5,EIF4G1 | c.3507C>A (p.Asp1169Glu) c.3441C>A (p.Asp1147Glu) c.2854C>A (n.2854C>A) c.2912C>A (p.Thr971Asn) c.3510C>A (p.Asp1170Glu) c.3015C>A (p.Asp1005Glu) c.3528C>A (p.Asp1176Glu) c.3246C>A (p.Asp1082Glu) c.3390C>A (p.Asp1130Glu) c.3387C>A (p.Asp1129Glu) c.3249C>A (p.Asp1083Glu) c.2922C>A (p.Asp974Glu) c.2919C>A (p.Asp973Glu) c.3018C>A (p.Asp1006Glu) c.*2946C>A (n.*2946C>A) c.2106+182587C>A (n.2106+182587C>A) c.668C>A n.9C>A | |
3 | g.184327294C>G | CA355414411 | EIF2B5,EIF4G1 | c.3507C>G (p.Asp1169Glu) c.3441C>G (p.Asp1147Glu) c.2854C>G (n.2854C>G) c.2912C>G (p.Thr971Ser) c.3510C>G (p.Asp1170Glu) c.3015C>G (p.Asp1005Glu) c.3528C>G (p.Asp1176Glu) c.3246C>G (p.Asp1082Glu) c.3390C>G (p.Asp1130Glu) c.3387C>G (p.Asp1129Glu) c.3249C>G (p.Asp1083Glu) c.2922C>G (p.Asp974Glu) c.2919C>G (p.Asp973Glu) c.3018C>G (p.Asp1006Glu) c.*2946C>G (n.*2946C>G) c.2106+182587C>G (n.2106+182587C>G) c.668C>G n.9C>G | |
3 | g.184327294C>T | CA355414415 | EIF2B5,EIF4G1 | c.3507C>T (p.Asp1169=) c.3441C>T (p.Asp1147=) c.2854C>T (n.2854C>T) c.2912C>T (p.Thr971Ile) c.3510C>T (p.Asp1170=) c.3015C>T (p.Asp1005=) c.3528C>T (p.Asp1176=) c.3246C>T (p.Asp1082=) c.3390C>T (p.Asp1130=) c.3387C>T (p.Asp1129=) c.3249C>T (p.Asp1083=) c.2922C>T (p.Asp974=) c.2919C>T (p.Asp973=) c.3018C>T (p.Asp1006=) c.*2946C>T (n.*2946C>T) c.2106+182587C>T (n.2106+182587C>T) c.668C>T n.9C>T | |
3 | g.184327295C>A | CA355414427 | EIF2B5,EIF4G1 | c.3508C>A (p.Arg1170Ser) c.3442C>A (p.Arg1148Ser) c.2855C>A (n.2855C>A) c.2913C>A (p.Thr971=) c.3511C>A (p.Arg1171Ser) c.3016C>A (p.Arg1006Ser) c.3529C>A (p.Arg1177Ser) c.3247C>A (p.Arg1083Ser) c.3391C>A (p.Arg1131Ser) c.3388C>A (p.Arg1130Ser) c.3250C>A (p.Arg1084Ser) c.2923C>A (p.Arg975Ser) c.2920C>A (p.Arg974Ser) c.3019C>A (p.Arg1007Ser) c.*2947C>A (n.*2947C>A) c.2106+182588C>A (n.2106+182588C>A) c.669C>A n.10C>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184327295C= | CA1425958237 | EIF2B5,EIF4G1 | c.3508C= (p.Arg1170=) c.3442C= (p.Arg1148=) c.2855C= (n.2855C=) c.2913C= (p.Thr971=) c.3511C= (p.Arg1171=) c.3016C= (p.Arg1006=) c.3529C= (p.Arg1177=) c.3247C= (p.Arg1083=) c.3391C= (p.Arg1131=) c.3388C= (p.Arg1130=) c.3250C= (p.Arg1084=) c.2923C= (p.Arg975=) c.2920C= (p.Arg974=) c.3019C= (p.Arg1007=) c.*2947C= (n.*2947C=) c.2106+182588C= (n.2106+182588C=) c.669C= n.10C= | |
3 | g.184327295C>G | CA355414422 | EIF2B5,EIF4G1 | c.3508C>G (p.Arg1170Gly) c.3442C>G (p.Arg1148Gly) c.2855C>G (n.2855C>G) c.2913C>G (p.Thr971=) c.3511C>G (p.Arg1171Gly) c.3016C>G (p.Arg1006Gly) c.3529C>G (p.Arg1177Gly) c.3247C>G (p.Arg1083Gly) c.3391C>G (p.Arg1131Gly) c.3388C>G (p.Arg1130Gly) c.3250C>G (p.Arg1084Gly) c.2923C>G (p.Arg975Gly) c.2920C>G (p.Arg974Gly) c.3019C>G (p.Arg1007Gly) c.*2947C>G (n.*2947C>G) c.2106+182588C>G (n.2106+182588C>G) c.669C>G n.10C>G | |
3 | g.184327295C>T | CA2732829 | EIF2B5,EIF4G1 | c.3508C>T (p.Arg1170Cys) c.3442C>T (p.Arg1148Cys) c.2855C>T (n.2855C>T) c.2913C>T (p.Thr971=) c.3511C>T (p.Arg1171Cys) c.3016C>T (p.Arg1006Cys) c.3529C>T (p.Arg1177Cys) c.3247C>T (p.Arg1083Cys) c.3391C>T (p.Arg1131Cys) c.3388C>T (p.Arg1130Cys) c.3250C>T (p.Arg1084Cys) c.2923C>T (p.Arg975Cys) c.2920C>T (p.Arg974Cys) c.3019C>T (p.Arg1007Cys) c.*2947C>T (n.*2947C>T) c.2106+182588C>T (n.2106+182588C>T) c.669C>T n.10C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327296G>A | CA2732830 | EIF2B5,EIF4G1 | c.3509G>A (p.Arg1170His) c.3443G>A (p.Arg1148His) c.2856G>A (n.2856G>A) c.2914G>A (p.Val972Met) c.3512G>A (p.Arg1171His) c.3017G>A (p.Arg1006His) c.3530G>A (p.Arg1177His) c.3248G>A (p.Arg1083His) c.3392G>A (p.Arg1131His) c.3389G>A (p.Arg1130His) c.3251G>A (p.Arg1084His) c.2924G>A (p.Arg975His) c.2921G>A (p.Arg974His) c.3020G>A (p.Arg1007His) c.*2948G>A (n.*2948G>A) c.2106+182589G>A (n.2106+182589G>A) c.670G>A n.11G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.184327296G>C | CA355414436 | EIF2B5,EIF4G1 | c.3509G>C (p.Arg1170Pro) c.3443G>C (p.Arg1148Pro) c.2856G>C (n.2856G>C) c.2914G>C (p.Val972Leu) c.3512G>C (p.Arg1171Pro) c.3017G>C (p.Arg1006Pro) c.3530G>C (p.Arg1177Pro) c.3248G>C (p.Arg1083Pro) c.3392G>C (p.Arg1131Pro) c.3389G>C (p.Arg1130Pro) c.3251G>C (p.Arg1084Pro) c.2924G>C (p.Arg975Pro) c.2921G>C (p.Arg974Pro) c.3020G>C (p.Arg1007Pro) c.*2948G>C (n.*2948G>C) c.2106+182589G>C (n.2106+182589G>C) c.670G>C n.11G>C | |
3 | g.184327296G= | CA1425958240 | EIF2B5,EIF4G1 | c.3509G= (p.Arg1170=) c.3443G= (p.Arg1148=) c.2856G= (n.2856G=) c.2914G= (p.Val972=) c.3512G= (p.Arg1171=) c.3017G= (p.Arg1006=) c.3530G= (p.Arg1177=) c.3248G= (p.Arg1083=) c.3392G= (p.Arg1131=) c.3389G= (p.Arg1130=) c.3251G= (p.Arg1084=) c.2924G= (p.Arg975=) c.2921G= (p.Arg974=) c.3020G= (p.Arg1007=) c.*2948G= (n.*2948G=) c.2106+182589G= (n.2106+182589G=) c.670G= n.11G= | |
3 | g.184327296G>T | CA2732831 | EIF2B5,EIF4G1 | c.3509G>T (p.Arg1170Leu) c.3443G>T (p.Arg1148Leu) c.2856G>T (n.2856G>T) c.2914G>T (p.Val972Leu) c.3512G>T (p.Arg1171Leu) c.3017G>T (p.Arg1006Leu) c.3530G>T (p.Arg1177Leu) c.3248G>T (p.Arg1083Leu) c.3392G>T (p.Arg1131Leu) c.3389G>T (p.Arg1130Leu) c.3251G>T (p.Arg1084Leu) c.2924G>T (p.Arg975Leu) c.2921G>T (p.Arg974Leu) c.3020G>T (p.Arg1007Leu) c.*2948G>T (n.*2948G>T) c.2106+182589G>T (n.2106+182589G>T) c.670G>T n.11G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184327297T>A | CA355414446 | EIF2B5,EIF4G1 | c.3510T>A (p.Arg1170=) c.3444T>A (p.Arg1148=) c.2857T>A (n.2857T>A) c.2915T>A (p.Val972Glu) c.3513T>A (p.Arg1171=) c.3018T>A (p.Arg1006=) c.3531T>A (p.Arg1177=) c.3249T>A (p.Arg1083=) c.3393T>A (p.Arg1131=) c.3390T>A (p.Arg1130=) c.3252T>A (p.Arg1084=) c.2925T>A (p.Arg975=) c.2922T>A (p.Arg974=) c.3021T>A (p.Arg1007=) c.*2949T>A (n.*2949T>A) c.2106+182590T>A (n.2106+182590T>A) c.671T>A n.12T>A | |
3 | g.184327297T>C | CA355414448 | EIF2B5,EIF4G1 | c.3510T>C (p.Arg1170=) c.3444T>C (p.Arg1148=) c.2857T>C (n.2857T>C) c.2915T>C (p.Val972Ala) c.3513T>C (p.Arg1171=) c.3018T>C (p.Arg1006=) c.3531T>C (p.Arg1177=) c.3249T>C (p.Arg1083=) c.3393T>C (p.Arg1131=) c.3390T>C (p.Arg1130=) c.3252T>C (p.Arg1084=) c.2925T>C (p.Arg975=) c.2922T>C (p.Arg974=) c.3021T>C (p.Arg1007=) c.*2949T>C (n.*2949T>C) c.2106+182590T>C (n.2106+182590T>C) c.671T>C n.12T>C | |
3 | g.184327297T>G | CA355414453 | EIF2B5,EIF4G1 | c.3510T>G (p.Arg1170=) c.3444T>G (p.Arg1148=) c.2857T>G (n.2857T>G) c.2915T>G (p.Val972Gly) c.3513T>G (p.Arg1171=) c.3018T>G (p.Arg1006=) c.3531T>G (p.Arg1177=) c.3249T>G (p.Arg1083=) c.3393T>G (p.Arg1131=) c.3390T>G (p.Arg1130=) c.3252T>G (p.Arg1084=) c.2925T>G (p.Arg975=) c.2922T>G (p.Arg974=) c.3021T>G (p.Arg1007=) c.*2949T>G (n.*2949T>G) c.2106+182590T>G (n.2106+182590T>G) c.671T>G n.12T>G | |
3 | g.184327298G>A | CA355414457 | EIF2B5,EIF4G1 | c.3511G>A (p.Gly1171Arg) c.3445G>A (p.Gly1149Arg) c.2858G>A (n.2858G>A) c.2916G>A (p.Val972=) c.3514G>A (p.Gly1172Arg) c.3019G>A (p.Gly1007Arg) c.3532G>A (p.Gly1178Arg) c.3250G>A (p.Gly1084Arg) c.3394G>A (p.Gly1132Arg) c.3391G>A (p.Gly1131Arg) c.3253G>A (p.Gly1085Arg) c.2926G>A (p.Gly976Arg) c.2923G>A (p.Gly975Arg) c.3022G>A (p.Gly1008Arg) c.*2950G>A (n.*2950G>A) c.2106+182591G>A (n.2106+182591G>A) c.672G>A n.13G>A | |
3 | g.184327298G>C | CA355414465 | EIF2B5,EIF4G1 | c.3511G>C (p.Gly1171Arg) c.3445G>C (p.Gly1149Arg) c.2858G>C (n.2858G>C) c.2916G>C (p.Val972=) c.3514G>C (p.Gly1172Arg) c.3019G>C (p.Gly1007Arg) c.3532G>C (p.Gly1178Arg) c.3250G>C (p.Gly1084Arg) c.3394G>C (p.Gly1132Arg) c.3391G>C (p.Gly1131Arg) c.3253G>C (p.Gly1085Arg) c.2926G>C (p.Gly976Arg) c.2923G>C (p.Gly975Arg) c.3022G>C (p.Gly1008Arg) c.*2950G>C (n.*2950G>C) c.2106+182591G>C (n.2106+182591G>C) c.672G>C n.13G>C | |
3 | g.184327298G>T | CA355414462 | EIF2B5,EIF4G1 | c.3511G>T (p.Gly1171Trp) c.3445G>T (p.Gly1149Trp) c.2858G>T (n.2858G>T) c.2916G>T (p.Val972=) c.3514G>T (p.Gly1172Trp) c.3019G>T (p.Gly1007Trp) c.3532G>T (p.Gly1178Trp) c.3250G>T (p.Gly1084Trp) c.3394G>T (p.Gly1132Trp) c.3391G>T (p.Gly1131Trp) c.3253G>T (p.Gly1085Trp) c.2926G>T (p.Gly976Trp) c.2923G>T (p.Gly975Trp) c.3022G>T (p.Gly1008Trp) c.*2950G>T (n.*2950G>T) c.2106+182591G>T (n.2106+182591G>T) c.672G>T n.13G>T | |
3 | g.184327299G>A | CA355414469 | EIF2B5,EIF4G1 | c.3512G>A (p.Gly1171Glu) c.3446G>A (p.Gly1149Glu) c.2859G>A (n.2859G>A) c.2917G>A (p.Gly973Arg) c.3515G>A (p.Gly1172Glu) c.3020G>A (p.Gly1007Glu) c.3533G>A (p.Gly1178Glu) c.3251G>A (p.Gly1084Glu) c.3395G>A (p.Gly1132Glu) c.3392G>A (p.Gly1131Glu) c.3254G>A (p.Gly1085Glu) c.2927G>A (p.Gly976Glu) c.2924G>A (p.Gly975Glu) c.3023G>A (p.Gly1008Glu) c.*2951G>A (n.*2951G>A) c.2106+182592G>A (n.2106+182592G>A) c.673G>A n.14G>A | |
3 | g.184327299G>C | CA355414472 | EIF2B5,EIF4G1 | c.3512G>C (p.Gly1171Ala) c.3446G>C (p.Gly1149Ala) c.2859G>C (n.2859G>C) c.2917G>C (p.Gly973Arg) c.3515G>C (p.Gly1172Ala) c.3020G>C (p.Gly1007Ala) c.3533G>C (p.Gly1178Ala) c.3251G>C (p.Gly1084Ala) c.3395G>C (p.Gly1132Ala) c.3392G>C (p.Gly1131Ala) c.3254G>C (p.Gly1085Ala) c.2927G>C (p.Gly976Ala) c.2924G>C (p.Gly975Ala) c.3023G>C (p.Gly1008Ala) c.*2951G>C (n.*2951G>C) c.2106+182592G>C (n.2106+182592G>C) c.673G>C n.14G>C | |
3 | g.184327299G>T | CA355414476 | EIF2B5,EIF4G1 | c.3512G>T (p.Gly1171Val) c.3446G>T (p.Gly1149Val) c.2859G>T (n.2859G>T) c.2917G>T (p.Gly973Trp) c.3515G>T (p.Gly1172Val) c.3020G>T (p.Gly1007Val) c.3533G>T (p.Gly1178Val) c.3251G>T (p.Gly1084Val) c.3395G>T (p.Gly1132Val) c.3392G>T (p.Gly1131Val) c.3254G>T (p.Gly1085Val) c.2927G>T (p.Gly976Val) c.2924G>T (p.Gly975Val) c.3023G>T (p.Gly1008Val) c.*2951G>T (n.*2951G>T) c.2106+182592G>T (n.2106+182592G>T) c.673G>T n.14G>T | |
3 | g.184327300G>A | CA355414485 | EIF2B5,EIF4G1 | c.3513G>A (p.Gly1171=) c.3447G>A (p.Gly1149=) c.2860G>A (n.2860G>A) c.2918G>A (p.Gly973Glu) c.3516G>A (p.Gly1172=) c.3021G>A (p.Gly1007=) c.3534G>A (p.Gly1178=) c.3252G>A (p.Gly1084=) c.3396G>A (p.Gly1132=) c.3393G>A (p.Gly1131=) c.3255G>A (p.Gly1085=) c.2928G>A (p.Gly976=) c.2925G>A (p.Gly975=) c.3024G>A (p.Gly1008=) c.*2952G>A (n.*2952G>A) c.2106+182593G>A (n.2106+182593G>A) c.674G>A n.15G>A | |
3 | g.184327300G>C | CA355414489 | EIF2B5,EIF4G1 | c.3513G>C (p.Gly1171=) c.3447G>C (p.Gly1149=) c.2860G>C (n.2860G>C) c.2918G>C (p.Gly973Ala) c.3516G>C (p.Gly1172=) c.3021G>C (p.Gly1007=) c.3534G>C (p.Gly1178=) c.3252G>C (p.Gly1084=) c.3396G>C (p.Gly1132=) c.3393G>C (p.Gly1131=) c.3255G>C (p.Gly1085=) c.2928G>C (p.Gly976=) c.2925G>C (p.Gly975=) c.3024G>C (p.Gly1008=) c.*2952G>C (n.*2952G>C) c.2106+182593G>C (n.2106+182593G>C) c.674G>C n.15G>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184327300G= | CA1425958243 | EIF2B5,EIF4G1 | c.3513G= (p.Gly1171=) c.3447G= (p.Gly1149=) c.2860G= (n.2860G=) c.2918G= (p.Gly973=) c.3516G= (p.Gly1172=) c.3021G= (p.Gly1007=) c.3534G= (p.Gly1178=) c.3252G= (p.Gly1084=) c.3396G= (p.Gly1132=) c.3393G= (p.Gly1131=) c.3255G= (p.Gly1085=) c.2928G= (p.Gly976=) c.2925G= (p.Gly975=) c.3024G= (p.Gly1008=) c.*2952G= (n.*2952G=) c.2106+182593G= (n.2106+182593G=) c.674G= n.15G= | |
3 | g.184327300G>T | CA355414495 | EIF2B5,EIF4G1 | c.3513G>T (p.Gly1171=) c.3447G>T (p.Gly1149=) c.2860G>T (n.2860G>T) c.2918G>T (p.Gly973Val) c.3516G>T (p.Gly1172=) c.3021G>T (p.Gly1007=) c.3534G>T (p.Gly1178=) c.3252G>T (p.Gly1084=) c.3396G>T (p.Gly1132=) c.3393G>T (p.Gly1131=) c.3255G>T (p.Gly1085=) c.2928G>T (p.Gly976=) c.2925G>T (p.Gly975=) c.3024G>T (p.Gly1008=) c.*2952G>T (n.*2952G>T) c.2106+182593G>T (n.2106+182593G>T) c.674G>T n.15G>T | |
3 | g.184327301G>A | CA355414500 | EIF2B5,EIF4G1 | c.3514G>A (p.Asp1172Asn) c.3448G>A (p.Asp1150Asn) c.2861G>A (n.2861G>A) c.2919G>A (p.Gly973=) c.3517G>A (p.Asp1173Asn) c.3022G>A (p.Asp1008Asn) c.3535G>A (p.Asp1179Asn) c.3253G>A (p.Asp1085Asn) c.3397G>A (p.Asp1133Asn) c.3394G>A (p.Asp1132Asn) c.3256G>A (p.Asp1086Asn) c.2929G>A (p.Asp977Asn) c.2926G>A (p.Asp976Asn) c.3025G>A (p.Asp1009Asn) c.*2953G>A (n.*2953G>A) c.2106+182594G>A (n.2106+182594G>A) c.675G>A n.16G>A | |
3 | g.184327301G>C | CA355414504 | EIF2B5,EIF4G1 | c.3514G>C (p.Asp1172His) c.3448G>C (p.Asp1150His) c.2861G>C (n.2861G>C) c.2919G>C (p.Gly973=) c.3517G>C (p.Asp1173His) c.3022G>C (p.Asp1008His) c.3535G>C (p.Asp1179His) c.3253G>C (p.Asp1085His) c.3397G>C (p.Asp1133His) c.3394G>C (p.Asp1132His) c.3256G>C (p.Asp1086His) c.2929G>C (p.Asp977His) c.2926G>C (p.Asp976His) c.3025G>C (p.Asp1009His) c.*2953G>C (n.*2953G>C) c.2106+182594G>C (n.2106+182594G>C) c.675G>C n.16G>C | |
3 | g.184327301G>T | CA355414506 | EIF2B5,EIF4G1 | c.3514G>T (p.Asp1172Tyr) c.3448G>T (p.Asp1150Tyr) c.2861G>T (n.2861G>T) c.2919G>T (p.Gly973=) c.3517G>T (p.Asp1173Tyr) c.3022G>T (p.Asp1008Tyr) c.3535G>T (p.Asp1179Tyr) c.3253G>T (p.Asp1085Tyr) c.3397G>T (p.Asp1133Tyr) c.3394G>T (p.Asp1132Tyr) c.3256G>T (p.Asp1086Tyr) c.2929G>T (p.Asp977Tyr) c.2926G>T (p.Asp976Tyr) c.3025G>T (p.Asp1009Tyr) c.*2953G>T (n.*2953G>T) c.2106+182594G>T (n.2106+182594G>T) c.675G>T n.16G>T | gnomAD v4 |
3 | g.184327302A>C | CA355414509 | EIF2B5,EIF4G1 | c.3515A>C (p.Asp1172Ala) c.3449A>C (p.Asp1150Ala) c.2862A>C (n.2862A>C) c.2920A>C (p.Thr974Pro) c.3518A>C (p.Asp1173Ala) c.3023A>C (p.Asp1008Ala) c.3536A>C (p.Asp1179Ala) c.3254A>C (p.Asp1085Ala) c.3398A>C (p.Asp1133Ala) c.3395A>C (p.Asp1132Ala) c.3257A>C (p.Asp1086Ala) c.2930A>C (p.Asp977Ala) c.2927A>C (p.Asp976Ala) c.3026A>C (p.Asp1009Ala) c.*2954A>C (n.*2954A>C) c.2106+182595A>C (n.2106+182595A>C) c.676A>C n.17A>C | |
3 | g.184327302A>G | CA355414510 | EIF2B5,EIF4G1 | c.3515A>G (p.Asp1172Gly) c.3449A>G (p.Asp1150Gly) c.2862A>G (n.2862A>G) c.2920A>G (p.Thr974Ala) c.3518A>G (p.Asp1173Gly) c.3023A>G (p.Asp1008Gly) c.3536A>G (p.Asp1179Gly) c.3254A>G (p.Asp1085Gly) c.3398A>G (p.Asp1133Gly) c.3395A>G (p.Asp1132Gly) c.3257A>G (p.Asp1086Gly) c.2930A>G (p.Asp977Gly) c.2927A>G (p.Asp976Gly) c.3026A>G (p.Asp1009Gly) c.*2954A>G (n.*2954A>G) c.2106+182595A>G (n.2106+182595A>G) c.676A>G n.17A>G | |
3 | g.184327302A>T | CA355414514 | EIF2B5,EIF4G1 | c.3515A>T (p.Asp1172Val) c.3449A>T (p.Asp1150Val) c.2862A>T (n.2862A>T) c.2920A>T (p.Thr974Ser) c.3518A>T (p.Asp1173Val) c.3023A>T (p.Asp1008Val) c.3536A>T (p.Asp1179Val) c.3254A>T (p.Asp1085Val) c.3398A>T (p.Asp1133Val) c.3395A>T (p.Asp1132Val) c.3257A>T (p.Asp1086Val) c.2930A>T (p.Asp977Val) c.2927A>T (p.Asp976Val) c.3026A>T (p.Asp1009Val) c.*2954A>T (n.*2954A>T) c.2106+182595A>T (n.2106+182595A>T) c.676A>T n.17A>T |