Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.184326876C>T | CA2577978150 | EIF2B5,EIF4G1 | c.3326-5C>T (n.3326-5C>T) c.3260-5C>T (n.3260-5C>T) c.2673-5C>T (n.2673-5C>T) c.2732-5C>T (n.2732-5C>T) c.3329-5C>T (n.3329-5C>T) c.2834-5C>T (n.2834-5C>T) c.3347-5C>T (n.3347-5C>T) c.3065-5C>T (n.3065-5C>T) c.3209-5C>T (n.3209-5C>T) c.3206-5C>T (n.3206-5C>T) c.3068-5C>T (n.3068-5C>T) c.2741-5C>T (n.2741-5C>T) c.2738-5C>T (n.2738-5C>T) c.2837-5C>T (n.2837-5C>T) c.*2765-5C>T (n.*2765-5C>T) c.2106+182169C>T (n.2106+182169C>T) c.487-5C>T n.546-5C>T | |
3 | g.184326877C>A | CA2668839422 | EIF2B5,EIF4G1 | c.3326-4C>A (n.3326-4C>A) c.3260-4C>A (n.3260-4C>A) c.2673-4C>A (n.2673-4C>A) c.2732-4C>A (n.2732-4C>A) c.3329-4C>A (n.3329-4C>A) c.2834-4C>A (n.2834-4C>A) c.3347-4C>A (n.3347-4C>A) c.3065-4C>A (n.3065-4C>A) c.3209-4C>A (n.3209-4C>A) c.3206-4C>A (n.3206-4C>A) c.3068-4C>A (n.3068-4C>A) c.2741-4C>A (n.2741-4C>A) c.2738-4C>A (n.2738-4C>A) c.2837-4C>A (n.2837-4C>A) c.*2765-4C>A (n.*2765-4C>A) c.2106+182170C>A (n.2106+182170C>A) c.487-4C>A n.546-4C>A | gnomAD v4 |
3 | g.184326878C= | CA1425957721 | EIF2B5,EIF4G1 | c.3326-3C= (n.3326-3C=) c.3260-3C= (n.3260-3C=) c.2673-3C= (n.2673-3C=) c.2732-3C= (n.2732-3C=) c.3329-3C= (n.3329-3C=) c.2834-3C= (n.2834-3C=) c.3347-3C= (n.3347-3C=) c.3065-3C= (n.3065-3C=) c.3209-3C= (n.3209-3C=) c.3206-3C= (n.3206-3C=) c.3068-3C= (n.3068-3C=) c.2741-3C= (n.2741-3C=) c.2738-3C= (n.2738-3C=) c.2837-3C= (n.2837-3C=) c.*2765-3C= (n.*2765-3C=) c.2106+182171C= (n.2106+182171C=) c.487-3C= n.546-3C= | |
3 | g.184326878C>T | CA1057223547 | EIF2B5,EIF4G1 | c.3326-3C>T (n.3326-3C>T) c.3260-3C>T (n.3260-3C>T) c.2673-3C>T (n.2673-3C>T) c.2732-3C>T (n.2732-3C>T) c.3329-3C>T (n.3329-3C>T) c.2834-3C>T (n.2834-3C>T) c.3347-3C>T (n.3347-3C>T) c.3065-3C>T (n.3065-3C>T) c.3209-3C>T (n.3209-3C>T) c.3206-3C>T (n.3206-3C>T) c.3068-3C>T (n.3068-3C>T) c.2741-3C>T (n.2741-3C>T) c.2738-3C>T (n.2738-3C>T) c.2837-3C>T (n.2837-3C>T) c.*2765-3C>T (n.*2765-3C>T) c.2106+182171C>T (n.2106+182171C>T) c.487-3C>T n.546-3C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184326879A= | CA1425957723 | EIF2B5,EIF4G1 | c.3326-2A= (n.3326-2A=) c.3260-2A= (n.3260-2A=) c.2673-2A= (n.2673-2A=) c.2732-2A= (n.2732-2A=) c.3329-2A= (n.3329-2A=) c.2834-2A= (n.2834-2A=) c.3347-2A= (n.3347-2A=) c.3065-2A= (n.3065-2A=) c.3209-2A= (n.3209-2A=) c.3206-2A= (n.3206-2A=) c.3068-2A= (n.3068-2A=) c.2741-2A= (n.2741-2A=) c.2738-2A= (n.2738-2A=) c.2837-2A= (n.2837-2A=) c.*2765-2A= (n.*2765-2A=) c.2106+182172A= (n.2106+182172A=) c.487-2A= n.546-2A= | |
3 | g.184326879A>C | CA355412950 | EIF2B5,EIF4G1 | c.3326-2A>C (n.3326-2A>C) c.3260-2A>C (n.3260-2A>C) c.2673-2A>C (n.2673-2A>C) c.2732-2A>C (n.2732-2A>C) c.3329-2A>C (n.3329-2A>C) c.2834-2A>C (n.2834-2A>C) c.3347-2A>C (n.3347-2A>C) c.3065-2A>C (n.3065-2A>C) c.3209-2A>C (n.3209-2A>C) c.3206-2A>C (n.3206-2A>C) c.3068-2A>C (n.3068-2A>C) c.2741-2A>C (n.2741-2A>C) c.2738-2A>C (n.2738-2A>C) c.2837-2A>C (n.2837-2A>C) c.*2765-2A>C (n.*2765-2A>C) c.2106+182172A>C (n.2106+182172A>C) c.487-2A>C n.546-2A>C | |
3 | g.184326879A>G | CA88867184 | EIF2B5,EIF4G1 | c.3326-2A>G (n.3326-2A>G) c.3260-2A>G (n.3260-2A>G) c.2673-2A>G (n.2673-2A>G) c.2732-2A>G (n.2732-2A>G) c.3329-2A>G (n.3329-2A>G) c.2834-2A>G (n.2834-2A>G) c.3347-2A>G (n.3347-2A>G) c.3065-2A>G (n.3065-2A>G) c.3209-2A>G (n.3209-2A>G) c.3206-2A>G (n.3206-2A>G) c.3068-2A>G (n.3068-2A>G) c.2741-2A>G (n.2741-2A>G) c.2738-2A>G (n.2738-2A>G) c.2837-2A>G (n.2837-2A>G) c.*2765-2A>G (n.*2765-2A>G) c.2106+182172A>G (n.2106+182172A>G) c.487-2A>G n.546-2A>G | dbSNP |
3 | g.184326879A>T | CA355412947 | EIF2B5,EIF4G1 | c.3326-2A>T (n.3326-2A>T) c.3260-2A>T (n.3260-2A>T) c.2673-2A>T (n.2673-2A>T) c.2732-2A>T (n.2732-2A>T) c.3329-2A>T (n.3329-2A>T) c.2834-2A>T (n.2834-2A>T) c.3347-2A>T (n.3347-2A>T) c.3065-2A>T (n.3065-2A>T) c.3209-2A>T (n.3209-2A>T) c.3206-2A>T (n.3206-2A>T) c.3068-2A>T (n.3068-2A>T) c.2741-2A>T (n.2741-2A>T) c.2738-2A>T (n.2738-2A>T) c.2837-2A>T (n.2837-2A>T) c.*2765-2A>T (n.*2765-2A>T) c.2106+182172A>T (n.2106+182172A>T) c.487-2A>T n.546-2A>T | |
3 | g.184326880G>A | CA355412954 | EIF2B5,EIF4G1 | c.3326-1G>A (n.3326-1G>A) c.3260-1G>A (n.3260-1G>A) c.2673-1G>A (n.2673-1G>A) c.2732-1G>A (n.2732-1G>A) c.3329-1G>A (n.3329-1G>A) c.2834-1G>A (n.2834-1G>A) c.3347-1G>A (n.3347-1G>A) c.3065-1G>A (n.3065-1G>A) c.3209-1G>A (n.3209-1G>A) c.3206-1G>A (n.3206-1G>A) c.3068-1G>A (n.3068-1G>A) c.2741-1G>A (n.2741-1G>A) c.2738-1G>A (n.2738-1G>A) c.2837-1G>A (n.2837-1G>A) c.*2765-1G>A (n.*2765-1G>A) c.2106+182173G>A (n.2106+182173G>A) c.487-1G>A n.546-1G>A | |
3 | g.184326880G>C | CA355412956 | EIF2B5,EIF4G1 | c.3326-1G>C (n.3326-1G>C) c.3260-1G>C (n.3260-1G>C) c.2673-1G>C (n.2673-1G>C) c.2732-1G>C (n.2732-1G>C) c.3329-1G>C (n.3329-1G>C) c.2834-1G>C (n.2834-1G>C) c.3347-1G>C (n.3347-1G>C) c.3065-1G>C (n.3065-1G>C) c.3209-1G>C (n.3209-1G>C) c.3206-1G>C (n.3206-1G>C) c.3068-1G>C (n.3068-1G>C) c.2741-1G>C (n.2741-1G>C) c.2738-1G>C (n.2738-1G>C) c.2837-1G>C (n.2837-1G>C) c.*2765-1G>C (n.*2765-1G>C) c.2106+182173G>C (n.2106+182173G>C) c.487-1G>C n.546-1G>C | |
3 | g.184326880G>T | CA355412957 | EIF2B5,EIF4G1 | c.3326-1G>T (n.3326-1G>T) c.3260-1G>T (n.3260-1G>T) c.2673-1G>T (n.2673-1G>T) c.2732-1G>T (n.2732-1G>T) c.3329-1G>T (n.3329-1G>T) c.2834-1G>T (n.2834-1G>T) c.3347-1G>T (n.3347-1G>T) c.3065-1G>T (n.3065-1G>T) c.3209-1G>T (n.3209-1G>T) c.3206-1G>T (n.3206-1G>T) c.3068-1G>T (n.3068-1G>T) c.2741-1G>T (n.2741-1G>T) c.2738-1G>T (n.2738-1G>T) c.2837-1G>T (n.2837-1G>T) c.*2765-1G>T (n.*2765-1G>T) c.2106+182173G>T (n.2106+182173G>T) c.487-1G>T n.546-1G>T | |
3 | g.184326881C>A | CA355412958 | EIF2B5,EIF4G1 | c.3326C>A (p.Ala1109Glu) c.3260C>A (p.Ala1087Glu) c.2673C>A (n.2673C>A) c.2732C>A (p.Ala911Glu) c.3329C>A (p.Ala1110Glu) c.2834C>A (p.Ala945Glu) c.3347C>A (p.Ala1116Glu) c.3065C>A (p.Ala1022Glu) c.3209C>A (p.Ala1070Glu) c.3206C>A (p.Ala1069Glu) c.3068C>A (p.Ala1023Glu) c.2741C>A (p.Ala914Glu) c.2738C>A (p.Ala913Glu) c.2837C>A (p.Ala946Glu) c.*2765C>A (n.*2765C>A) c.2106+182174C>A (n.2106+182174C>A) c.487C>A n.546C>A | |
3 | g.184326881C>G | CA355412959 | EIF2B5,EIF4G1 | c.3326C>G (p.Ala1109Gly) c.3260C>G (p.Ala1087Gly) c.2673C>G (n.2673C>G) c.2732C>G (p.Ala911Gly) c.3329C>G (p.Ala1110Gly) c.2834C>G (p.Ala945Gly) c.3347C>G (p.Ala1116Gly) c.3065C>G (p.Ala1022Gly) c.3209C>G (p.Ala1070Gly) c.3206C>G (p.Ala1069Gly) c.3068C>G (p.Ala1023Gly) c.2741C>G (p.Ala914Gly) c.2738C>G (p.Ala913Gly) c.2837C>G (p.Ala946Gly) c.*2765C>G (n.*2765C>G) c.2106+182174C>G (n.2106+182174C>G) c.487C>G n.546C>G | |
3 | g.184326881C>T | CA355412962 | EIF2B5,EIF4G1 | c.3326C>T (p.Ala1109Val) c.3260C>T (p.Ala1087Val) c.2673C>T (n.2673C>T) c.2732C>T (p.Ala911Val) c.3329C>T (p.Ala1110Val) c.2834C>T (p.Ala945Val) c.3347C>T (p.Ala1116Val) c.3065C>T (p.Ala1022Val) c.3209C>T (p.Ala1070Val) c.3206C>T (p.Ala1069Val) c.3068C>T (p.Ala1023Val) c.2741C>T (p.Ala914Val) c.2738C>T (p.Ala913Val) c.2837C>T (p.Ala946Val) c.*2765C>T (n.*2765C>T) c.2106+182174C>T (n.2106+182174C>T) c.487C>T n.546C>T | |
3 | g.184326882A= | CA1425957729 | EIF2B5,EIF4G1 | c.3327A= (p.Ala1109=) c.3261A= (p.Ala1087=) c.2674A= (n.2674A=) c.2733A= (p.Ala911=) c.3330A= (p.Ala1110=) c.2835A= (p.Ala945=) c.3348A= (p.Ala1116=) c.3066A= (p.Ala1022=) c.3210A= (p.Ala1070=) c.3207A= (p.Ala1069=) c.3069A= (p.Ala1023=) c.2742A= (p.Ala914=) c.2739A= (p.Ala913=) c.2838A= (p.Ala946=) c.*2766A= (n.*2766A=) c.2106+182175A= (n.2106+182175A=) c.488A= n.547A= | |
3 | g.184326882A>C | CA437162070 | EIF2B5,EIF4G1 | c.3327A>C (p.Ala1109=) c.3261A>C (p.Ala1087=) c.2674A>C (n.2674A>C) c.2733A>C (p.Ala911=) c.3330A>C (p.Ala1110=) c.2835A>C (p.Ala945=) c.3348A>C (p.Ala1116=) c.3066A>C (p.Ala1022=) c.3210A>C (p.Ala1070=) c.3207A>C (p.Ala1069=) c.3069A>C (p.Ala1023=) c.2742A>C (p.Ala914=) c.2739A>C (p.Ala913=) c.2838A>C (p.Ala946=) c.*2766A>C (n.*2766A>C) c.2106+182175A>C (n.2106+182175A>C) c.488A>C n.547A>C | |
3 | g.184326882A>G | CA2732766 | EIF2B5,EIF4G1 | c.3327A>G (p.Ala1109=) c.3261A>G (p.Ala1087=) c.2674A>G (n.2674A>G) c.2733A>G (p.Ala911=) c.3330A>G (p.Ala1110=) c.2835A>G (p.Ala945=) c.3348A>G (p.Ala1116=) c.3066A>G (p.Ala1022=) c.3210A>G (p.Ala1070=) c.3207A>G (p.Ala1069=) c.3069A>G (p.Ala1023=) c.2742A>G (p.Ala914=) c.2739A>G (p.Ala913=) c.2838A>G (p.Ala946=) c.*2766A>G (n.*2766A>G) c.2106+182175A>G (n.2106+182175A>G) c.488A>G n.547A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184326882A>T | CA437162071 | EIF2B5,EIF4G1 | c.3327A>T (p.Ala1109=) c.3261A>T (p.Ala1087=) c.2674A>T (n.2674A>T) c.2733A>T (p.Ala911=) c.3330A>T (p.Ala1110=) c.2835A>T (p.Ala945=) c.3348A>T (p.Ala1116=) c.3066A>T (p.Ala1022=) c.3210A>T (p.Ala1070=) c.3207A>T (p.Ala1069=) c.3069A>T (p.Ala1023=) c.2742A>T (p.Ala914=) c.2739A>T (p.Ala913=) c.2838A>T (p.Ala946=) c.*2766A>T (n.*2766A>T) c.2106+182175A>T (n.2106+182175A>T) c.488A>T n.547A>T | |
3 | g.184326883T>A | CA355412970 | EIF2B5,EIF4G1 | c.3328T>A (p.Ser1110Thr) c.3262T>A (p.Ser1088Thr) c.2675T>A (n.2675T>A) c.2734T>A (p.Ser912Thr) c.3331T>A (p.Ser1111Thr) c.2836T>A (p.Ser946Thr) c.3349T>A (p.Ser1117Thr) c.3067T>A (p.Ser1023Thr) c.3211T>A (p.Ser1071Thr) c.3208T>A (p.Ser1070Thr) c.3070T>A (p.Ser1024Thr) c.2743T>A (p.Ser915Thr) c.2740T>A (p.Ser914Thr) c.2839T>A (p.Ser947Thr) c.*2767T>A (n.*2767T>A) c.2106+182176T>A (n.2106+182176T>A) c.489T>A n.548T>A | |
3 | g.184326883T>C | CA355412972 | EIF2B5,EIF4G1 | c.3328T>C (p.Ser1110Pro) c.3262T>C (p.Ser1088Pro) c.2675T>C (n.2675T>C) c.2734T>C (p.Ser912Pro) c.3331T>C (p.Ser1111Pro) c.2836T>C (p.Ser946Pro) c.3349T>C (p.Ser1117Pro) c.3067T>C (p.Ser1023Pro) c.3211T>C (p.Ser1071Pro) c.3208T>C (p.Ser1070Pro) c.3070T>C (p.Ser1024Pro) c.2743T>C (p.Ser915Pro) c.2740T>C (p.Ser914Pro) c.2839T>C (p.Ser947Pro) c.*2767T>C (n.*2767T>C) c.2106+182176T>C (n.2106+182176T>C) c.489T>C n.548T>C | |
3 | g.184326883T>G | CA355412975 | EIF2B5,EIF4G1 | c.3328T>G (p.Ser1110Ala) c.3262T>G (p.Ser1088Ala) c.2675T>G (n.2675T>G) c.2734T>G (p.Ser912Ala) c.3331T>G (p.Ser1111Ala) c.2836T>G (p.Ser946Ala) c.3349T>G (p.Ser1117Ala) c.3067T>G (p.Ser1023Ala) c.3211T>G (p.Ser1071Ala) c.3208T>G (p.Ser1070Ala) c.3070T>G (p.Ser1024Ala) c.2743T>G (p.Ser915Ala) c.2740T>G (p.Ser914Ala) c.2839T>G (p.Ser947Ala) c.*2767T>G (n.*2767T>G) c.2106+182176T>G (n.2106+182176T>G) c.489T>G n.548T>G | |
3 | g.184326884C>A | CA355412979 | EIF2B5,EIF4G1 | c.3329C>A (p.Ser1110Ter) c.3263C>A (p.Ser1088Ter) c.2676C>A (n.2676C>A) c.2735C>A (p.Ser912Ter) c.3332C>A (p.Ser1111Ter) c.2837C>A (p.Ser946Ter) c.3350C>A (p.Ser1117Ter) c.3068C>A (p.Ser1023Ter) c.3212C>A (p.Ser1071Ter) c.3209C>A (p.Ser1070Ter) c.3071C>A (p.Ser1024Ter) c.2744C>A (p.Ser915Ter) c.2741C>A (p.Ser914Ter) c.2840C>A (p.Ser947Ter) c.*2768C>A (n.*2768C>A) c.2106+182177C>A (n.2106+182177C>A) c.490C>A n.549C>A | |
3 | g.184326884C>G | CA355412982 | EIF2B5,EIF4G1 | c.3329C>G (p.Ser1110Ter) c.3263C>G (p.Ser1088Ter) c.2676C>G (n.2676C>G) c.2735C>G (p.Ser912Ter) c.3332C>G (p.Ser1111Ter) c.2837C>G (p.Ser946Ter) c.3350C>G (p.Ser1117Ter) c.3068C>G (p.Ser1023Ter) c.3212C>G (p.Ser1071Ter) c.3209C>G (p.Ser1070Ter) c.3071C>G (p.Ser1024Ter) c.2744C>G (p.Ser915Ter) c.2741C>G (p.Ser914Ter) c.2840C>G (p.Ser947Ter) c.*2768C>G (n.*2768C>G) c.2106+182177C>G (n.2106+182177C>G) c.490C>G n.549C>G | |
3 | g.184326884C>T | CA355412983 | EIF2B5,EIF4G1 | c.3329C>T (p.Ser1110Leu) c.3263C>T (p.Ser1088Leu) c.2676C>T (n.2676C>T) c.2735C>T (p.Ser912Leu) c.3332C>T (p.Ser1111Leu) c.2837C>T (p.Ser946Leu) c.3350C>T (p.Ser1117Leu) c.3068C>T (p.Ser1023Leu) c.3212C>T (p.Ser1071Leu) c.3209C>T (p.Ser1070Leu) c.3071C>T (p.Ser1024Leu) c.2744C>T (p.Ser915Leu) c.2741C>T (p.Ser914Leu) c.2840C>T (p.Ser947Leu) c.*2768C>T (n.*2768C>T) c.2106+182177C>T (n.2106+182177C>T) c.490C>T n.549C>T | gnomAD v4 |
3 | g.184326885A>C | CA437162072 | EIF2B5,EIF4G1 | c.3330A>C (p.Ser1110=) c.3264A>C (p.Ser1088=) c.2677A>C (n.2677A>C) c.2736A>C (p.Ser912=) c.3333A>C (p.Ser1111=) c.2838A>C (p.Ser946=) c.3351A>C (p.Ser1117=) c.3069A>C (p.Ser1023=) c.3213A>C (p.Ser1071=) c.3210A>C (p.Ser1070=) c.3072A>C (p.Ser1024=) c.2745A>C (p.Ser915=) c.2742A>C (p.Ser914=) c.2841A>C (p.Ser947=) c.*2769A>C (n.*2769A>C) c.2106+182178A>C (n.2106+182178A>C) c.491A>C n.550A>C | |
3 | g.184326885A>G | CA437162073 | EIF2B5,EIF4G1 | c.3330A>G (p.Ser1110=) c.3264A>G (p.Ser1088=) c.2677A>G (n.2677A>G) c.2736A>G (p.Ser912=) c.3333A>G (p.Ser1111=) c.2838A>G (p.Ser946=) c.3351A>G (p.Ser1117=) c.3069A>G (p.Ser1023=) c.3213A>G (p.Ser1071=) c.3210A>G (p.Ser1070=) c.3072A>G (p.Ser1024=) c.2745A>G (p.Ser915=) c.2742A>G (p.Ser914=) c.2841A>G (p.Ser947=) c.*2769A>G (n.*2769A>G) c.2106+182178A>G (n.2106+182178A>G) c.491A>G n.550A>G | gnomAD v4 |
3 | g.184326885A>T | CA437162074 | EIF2B5,EIF4G1 | c.3330A>T (p.Ser1110=) c.3264A>T (p.Ser1088=) c.2677A>T (n.2677A>T) c.2736A>T (p.Ser912=) c.3333A>T (p.Ser1111=) c.2838A>T (p.Ser946=) c.3351A>T (p.Ser1117=) c.3069A>T (p.Ser1023=) c.3213A>T (p.Ser1071=) c.3210A>T (p.Ser1070=) c.3072A>T (p.Ser1024=) c.2745A>T (p.Ser915=) c.2742A>T (p.Ser914=) c.2841A>T (p.Ser947=) c.*2769A>T (n.*2769A>T) c.2106+182178A>T (n.2106+182178A>T) c.491A>T n.550A>T | |
3 | g.184326886G>A | CA355412984 | EIF2B5,EIF4G1 | c.3331G>A (p.Glu1111Lys) c.3265G>A (p.Glu1089Lys) c.2678G>A (n.2678G>A) c.2737G>A (p.Glu913Lys) c.3334G>A (p.Glu1112Lys) c.2839G>A (p.Glu947Lys) c.3352G>A (p.Glu1118Lys) c.3070G>A (p.Glu1024Lys) c.3214G>A (p.Glu1072Lys) c.3211G>A (p.Glu1071Lys) c.3073G>A (p.Glu1025Lys) c.2746G>A (p.Glu916Lys) c.2743G>A (p.Glu915Lys) c.2842G>A (p.Glu948Lys) c.*2770G>A (n.*2770G>A) c.2106+182179G>A (n.2106+182179G>A) c.492G>A n.551G>A | |
3 | g.184326886G>C | CA2732767 | EIF2B5,EIF4G1 | c.3331G>C (p.Glu1111Gln) c.3265G>C (p.Glu1089Gln) c.2678G>C (n.2678G>C) c.2737G>C (p.Glu913Gln) c.3334G>C (p.Glu1112Gln) c.2839G>C (p.Glu947Gln) c.3352G>C (p.Glu1118Gln) c.3070G>C (p.Glu1024Gln) c.3214G>C (p.Glu1072Gln) c.3211G>C (p.Glu1071Gln) c.3073G>C (p.Glu1025Gln) c.2746G>C (p.Glu916Gln) c.2743G>C (p.Glu915Gln) c.2842G>C (p.Glu948Gln) c.*2770G>C (n.*2770G>C) c.2106+182179G>C (n.2106+182179G>C) c.492G>C n.551G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184326886G= | CA1425957733 | EIF2B5,EIF4G1 | c.3331G= (p.Glu1111=) c.3265G= (p.Glu1089=) c.2678G= (n.2678G=) c.2737G= (p.Glu913=) c.3334G= (p.Glu1112=) c.2839G= (p.Glu947=) c.3352G= (p.Glu1118=) c.3070G= (p.Glu1024=) c.3214G= (p.Glu1072=) c.3211G= (p.Glu1071=) c.3073G= (p.Glu1025=) c.2746G= (p.Glu916=) c.2743G= (p.Glu915=) c.2842G= (p.Glu948=) c.*2770G= (n.*2770G=) c.2106+182179G= (n.2106+182179G=) c.492G= n.551G= | |
3 | g.184326886G>T | CA355412985 | EIF2B5,EIF4G1 | c.3331G>T (p.Glu1111Ter) c.3265G>T (p.Glu1089Ter) c.2678G>T (n.2678G>T) c.2737G>T (p.Glu913Ter) c.3334G>T (p.Glu1112Ter) c.2839G>T (p.Glu947Ter) c.3352G>T (p.Glu1118Ter) c.3070G>T (p.Glu1024Ter) c.3214G>T (p.Glu1072Ter) c.3211G>T (p.Glu1071Ter) c.3073G>T (p.Glu1025Ter) c.2746G>T (p.Glu916Ter) c.2743G>T (p.Glu915Ter) c.2842G>T (p.Glu948Ter) c.*2770G>T (n.*2770G>T) c.2106+182179G>T (n.2106+182179G>T) c.492G>T n.551G>T | |
3 | g.184326887A>C | CA355412987 | EIF2B5,EIF4G1 | c.3332A>C (p.Glu1111Ala) c.3266A>C (p.Glu1089Ala) c.2679A>C (n.2679A>C) c.2738A>C (p.Glu913Ala) c.3335A>C (p.Glu1112Ala) c.2840A>C (p.Glu947Ala) c.3353A>C (p.Glu1118Ala) c.3071A>C (p.Glu1024Ala) c.3215A>C (p.Glu1072Ala) c.3212A>C (p.Glu1071Ala) c.3074A>C (p.Glu1025Ala) c.2747A>C (p.Glu916Ala) c.2744A>C (p.Glu915Ala) c.2843A>C (p.Glu948Ala) c.*2771A>C (n.*2771A>C) c.2106+182180A>C (n.2106+182180A>C) c.493A>C n.552A>C | |
3 | g.184326887A>G | CA355412989 | EIF2B5,EIF4G1 | c.3332A>G (p.Glu1111Gly) c.3266A>G (p.Glu1089Gly) c.2679A>G (n.2679A>G) c.2738A>G (p.Glu913Gly) c.3335A>G (p.Glu1112Gly) c.2840A>G (p.Glu947Gly) c.3353A>G (p.Glu1118Gly) c.3071A>G (p.Glu1024Gly) c.3215A>G (p.Glu1072Gly) c.3212A>G (p.Glu1071Gly) c.3074A>G (p.Glu1025Gly) c.2747A>G (p.Glu916Gly) c.2744A>G (p.Glu915Gly) c.2843A>G (p.Glu948Gly) c.*2771A>G (n.*2771A>G) c.2106+182180A>G (n.2106+182180A>G) c.493A>G n.552A>G | |
3 | g.184326887A>T | CA355412992 | EIF2B5,EIF4G1 | c.3332A>T (p.Glu1111Val) c.3266A>T (p.Glu1089Val) c.2679A>T (n.2679A>T) c.2738A>T (p.Glu913Val) c.3335A>T (p.Glu1112Val) c.2840A>T (p.Glu947Val) c.3353A>T (p.Glu1118Val) c.3071A>T (p.Glu1024Val) c.3215A>T (p.Glu1072Val) c.3212A>T (p.Glu1071Val) c.3074A>T (p.Glu1025Val) c.2747A>T (p.Glu916Val) c.2744A>T (p.Glu915Val) c.2843A>T (p.Glu948Val) c.*2771A>T (n.*2771A>T) c.2106+182180A>T (n.2106+182180A>T) c.493A>T n.552A>T | gnomAD v4 |
3 | g.184326888A>C | CA355412995 | EIF2B5,EIF4G1 | c.3333A>C (p.Glu1111Asp) c.3267A>C (p.Glu1089Asp) c.2680A>C (n.2680A>C) c.2739A>C (p.Glu913Asp) c.3336A>C (p.Glu1112Asp) c.2841A>C (p.Glu947Asp) c.3354A>C (p.Glu1118Asp) c.3072A>C (p.Glu1024Asp) c.3216A>C (p.Glu1072Asp) c.3213A>C (p.Glu1071Asp) c.3075A>C (p.Glu1025Asp) c.2748A>C (p.Glu916Asp) c.2745A>C (p.Glu915Asp) c.2844A>C (p.Glu948Asp) c.*2772A>C (n.*2772A>C) c.2106+182181A>C (n.2106+182181A>C) c.494A>C n.553A>C | |
3 | g.184326888A>G | CA437162075 | EIF2B5,EIF4G1 | c.3333A>G (p.Glu1111=) c.3267A>G (p.Glu1089=) c.2680A>G (n.2680A>G) c.2739A>G (p.Glu913=) c.3336A>G (p.Glu1112=) c.2841A>G (p.Glu947=) c.3354A>G (p.Glu1118=) c.3072A>G (p.Glu1024=) c.3216A>G (p.Glu1072=) c.3213A>G (p.Glu1071=) c.3075A>G (p.Glu1025=) c.2748A>G (p.Glu916=) c.2745A>G (p.Glu915=) c.2844A>G (p.Glu948=) c.*2772A>G (n.*2772A>G) c.2106+182181A>G (n.2106+182181A>G) c.494A>G n.553A>G | |
3 | g.184326888A>T | CA355412998 | EIF2B5,EIF4G1 | c.3333A>T (p.Glu1111Asp) c.3267A>T (p.Glu1089Asp) c.2680A>T (n.2680A>T) c.2739A>T (p.Glu913Asp) c.3336A>T (p.Glu1112Asp) c.2841A>T (p.Glu947Asp) c.3354A>T (p.Glu1118Asp) c.3072A>T (p.Glu1024Asp) c.3216A>T (p.Glu1072Asp) c.3213A>T (p.Glu1071Asp) c.3075A>T (p.Glu1025Asp) c.2748A>T (p.Glu916Asp) c.2745A>T (p.Glu915Asp) c.2844A>T (p.Glu948Asp) c.*2772A>T (n.*2772A>T) c.2106+182181A>T (n.2106+182181A>T) c.494A>T n.553A>T | |
3 | g.184326889G>A | CA355413002 | EIF2B5,EIF4G1 | c.3334G>A (p.Ala1112Thr) c.3268G>A (p.Ala1090Thr) c.2681G>A (n.2681G>A) c.2740G>A (p.Ala914Thr) c.3337G>A (p.Ala1113Thr) c.2842G>A (p.Ala948Thr) c.3355G>A (p.Ala1119Thr) c.3073G>A (p.Ala1025Thr) c.3217G>A (p.Ala1073Thr) c.3214G>A (p.Ala1072Thr) c.3076G>A (p.Ala1026Thr) c.2749G>A (p.Ala917Thr) c.2746G>A (p.Ala916Thr) c.2845G>A (p.Ala949Thr) c.*2773G>A (n.*2773G>A) c.2106+182182G>A (n.2106+182182G>A) c.495G>A n.554G>A | gnomAD v4 |
3 | g.184326889G>C | CA355413004 | EIF2B5,EIF4G1 | c.3334G>C (p.Ala1112Pro) c.3268G>C (p.Ala1090Pro) c.2681G>C (n.2681G>C) c.2740G>C (p.Ala914Pro) c.3337G>C (p.Ala1113Pro) c.2842G>C (p.Ala948Pro) c.3355G>C (p.Ala1119Pro) c.3073G>C (p.Ala1025Pro) c.3217G>C (p.Ala1073Pro) c.3214G>C (p.Ala1072Pro) c.3076G>C (p.Ala1026Pro) c.2749G>C (p.Ala917Pro) c.2746G>C (p.Ala916Pro) c.2845G>C (p.Ala949Pro) c.*2773G>C (n.*2773G>C) c.2106+182182G>C (n.2106+182182G>C) c.495G>C n.554G>C | |
3 | g.184326889G>T | CA355413006 | EIF2B5,EIF4G1 | c.3334G>T (p.Ala1112Ser) c.3268G>T (p.Ala1090Ser) c.2681G>T (n.2681G>T) c.2740G>T (p.Ala914Ser) c.3337G>T (p.Ala1113Ser) c.2842G>T (p.Ala948Ser) c.3355G>T (p.Ala1119Ser) c.3073G>T (p.Ala1025Ser) c.3217G>T (p.Ala1073Ser) c.3214G>T (p.Ala1072Ser) c.3076G>T (p.Ala1026Ser) c.2749G>T (p.Ala917Ser) c.2746G>T (p.Ala916Ser) c.2845G>T (p.Ala949Ser) c.*2773G>T (n.*2773G>T) c.2106+182182G>T (n.2106+182182G>T) c.495G>T n.554G>T | |
3 | g.184326890C>A | CA355413009 | EIF2B5,EIF4G1 | c.3335C>A (p.Ala1112Asp) c.3269C>A (p.Ala1090Asp) c.2682C>A (n.2682C>A) c.2741C>A (p.Ala914Asp) c.3338C>A (p.Ala1113Asp) c.2843C>A (p.Ala948Asp) c.3356C>A (p.Ala1119Asp) c.3074C>A (p.Ala1025Asp) c.3218C>A (p.Ala1073Asp) c.3215C>A (p.Ala1072Asp) c.3077C>A (p.Ala1026Asp) c.2750C>A (p.Ala917Asp) c.2747C>A (p.Ala916Asp) c.2846C>A (p.Ala949Asp) c.*2774C>A (n.*2774C>A) c.2106+182183C>A (n.2106+182183C>A) c.496C>A n.555C>A | |
3 | g.184326890C= | CA1425957735 | EIF2B5,EIF4G1 | c.3335C= (p.Ala1112=) c.3269C= (p.Ala1090=) c.2682C= (n.2682C=) c.2741C= (p.Ala914=) c.3338C= (p.Ala1113=) c.2843C= (p.Ala948=) c.3356C= (p.Ala1119=) c.3074C= (p.Ala1025=) c.3218C= (p.Ala1073=) c.3215C= (p.Ala1072=) c.3077C= (p.Ala1026=) c.2750C= (p.Ala917=) c.2747C= (p.Ala916=) c.2846C= (p.Ala949=) c.*2774C= (n.*2774C=) c.2106+182183C= (n.2106+182183C=) c.496C= n.555C= | |
3 | g.184326890C>G | CA355413010 | EIF2B5,EIF4G1 | c.3335C>G (p.Ala1112Gly) c.3269C>G (p.Ala1090Gly) c.2682C>G (n.2682C>G) c.2741C>G (p.Ala914Gly) c.3338C>G (p.Ala1113Gly) c.2843C>G (p.Ala948Gly) c.3356C>G (p.Ala1119Gly) c.3074C>G (p.Ala1025Gly) c.3218C>G (p.Ala1073Gly) c.3215C>G (p.Ala1072Gly) c.3077C>G (p.Ala1026Gly) c.2750C>G (p.Ala917Gly) c.2747C>G (p.Ala916Gly) c.2846C>G (p.Ala949Gly) c.*2774C>G (n.*2774C>G) c.2106+182183C>G (n.2106+182183C>G) c.496C>G n.555C>G | |
3 | g.184326890C>T | CA2732768 | EIF2B5,EIF4G1 | c.3335C>T (p.Ala1112Val) c.3269C>T (p.Ala1090Val) c.2682C>T (n.2682C>T) c.2741C>T (p.Ala914Val) c.3338C>T (p.Ala1113Val) c.2843C>T (p.Ala948Val) c.3356C>T (p.Ala1119Val) c.3074C>T (p.Ala1025Val) c.3218C>T (p.Ala1073Val) c.3215C>T (p.Ala1072Val) c.3077C>T (p.Ala1026Val) c.2750C>T (p.Ala917Val) c.2747C>T (p.Ala916Val) c.2846C>T (p.Ala949Val) c.*2774C>T (n.*2774C>T) c.2106+182183C>T (n.2106+182183C>T) c.496C>T n.555C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184326891T>A | CA437162076 | EIF2B5,EIF4G1 | c.3336T>A (p.Ala1112=) c.3270T>A (p.Ala1090=) c.2683T>A (n.2683T>A) c.2742T>A (p.Ala914=) c.3339T>A (p.Ala1113=) c.2844T>A (p.Ala948=) c.3357T>A (p.Ala1119=) c.3075T>A (p.Ala1025=) c.3219T>A (p.Ala1073=) c.3216T>A (p.Ala1072=) c.3078T>A (p.Ala1026=) c.2751T>A (p.Ala917=) c.2748T>A (p.Ala916=) c.2847T>A (p.Ala949=) c.*2775T>A (n.*2775T>A) c.2106+182184T>A (n.2106+182184T>A) c.497T>A n.556T>A | |
3 | g.184326891T>C | CA437162077 | EIF2B5,EIF4G1 | c.3336T>C (p.Ala1112=) c.3270T>C (p.Ala1090=) c.2683T>C (n.2683T>C) c.2742T>C (p.Ala914=) c.3339T>C (p.Ala1113=) c.2844T>C (p.Ala948=) c.3357T>C (p.Ala1119=) c.3075T>C (p.Ala1025=) c.3219T>C (p.Ala1073=) c.3216T>C (p.Ala1072=) c.3078T>C (p.Ala1026=) c.2751T>C (p.Ala917=) c.2748T>C (p.Ala916=) c.2847T>C (p.Ala949=) c.*2775T>C (n.*2775T>C) c.2106+182184T>C (n.2106+182184T>C) c.497T>C n.556T>C | gnomAD v4 |
3 | g.184326891T>G | CA437162078 | EIF2B5,EIF4G1 | c.3336T>G (p.Ala1112=) c.3270T>G (p.Ala1090=) c.2683T>G (n.2683T>G) c.2742T>G (p.Ala914=) c.3339T>G (p.Ala1113=) c.2844T>G (p.Ala948=) c.3357T>G (p.Ala1119=) c.3075T>G (p.Ala1025=) c.3219T>G (p.Ala1073=) c.3216T>G (p.Ala1072=) c.3078T>G (p.Ala1026=) c.2751T>G (p.Ala917=) c.2748T>G (p.Ala916=) c.2847T>G (p.Ala949=) c.*2775T>G (n.*2775T>G) c.2106+182184T>G (n.2106+182184T>G) c.497T>G n.556T>G | dbSNP |
3 | g.184326891T= | CA1425957738 | EIF2B5,EIF4G1 | c.3336T= (p.Ala1112=) c.3270T= (p.Ala1090=) c.2683T= (n.2683T=) c.2742T= (p.Ala914=) c.3339T= (p.Ala1113=) c.2844T= (p.Ala948=) c.3357T= (p.Ala1119=) c.3075T= (p.Ala1025=) c.3219T= (p.Ala1073=) c.3216T= (p.Ala1072=) c.3078T= (p.Ala1026=) c.2751T= (p.Ala917=) c.2748T= (p.Ala916=) c.2847T= (p.Ala949=) c.*2775T= (n.*2775T=) c.2106+182184T= (n.2106+182184T=) c.497T= n.556T= | |
3 | g.184326892G>A | CA355413019 | EIF2B5,EIF4G1 | c.3337G>A (p.Ala1113Thr) c.3271G>A (p.Ala1091Thr) c.2684G>A (n.2684G>A) c.2743G>A (p.Ala915Thr) c.3340G>A (p.Ala1114Thr) c.2845G>A (p.Ala949Thr) c.3358G>A (p.Ala1120Thr) c.3076G>A (p.Ala1026Thr) c.3220G>A (p.Ala1074Thr) c.3217G>A (p.Ala1073Thr) c.3079G>A (p.Ala1027Thr) c.2752G>A (p.Ala918Thr) c.2749G>A (p.Ala917Thr) c.2848G>A (p.Ala950Thr) c.*2776G>A (n.*2776G>A) c.2106+182185G>A (n.2106+182185G>A) c.498G>A n.557G>A | |
3 | g.184326892G>C | CA2732769 | EIF2B5,EIF4G1 | c.3337G>C (p.Ala1113Pro) c.3271G>C (p.Ala1091Pro) c.2684G>C (n.2684G>C) c.2743G>C (p.Ala915Pro) c.3340G>C (p.Ala1114Pro) c.2845G>C (p.Ala949Pro) c.3358G>C (p.Ala1120Pro) c.3076G>C (p.Ala1026Pro) c.3220G>C (p.Ala1074Pro) c.3217G>C (p.Ala1073Pro) c.3079G>C (p.Ala1027Pro) c.2752G>C (p.Ala918Pro) c.2749G>C (p.Ala917Pro) c.2848G>C (p.Ala950Pro) c.*2776G>C (n.*2776G>C) c.2106+182185G>C (n.2106+182185G>C) c.498G>C n.557G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184326892G= | CA1425957741 | EIF2B5,EIF4G1 | c.3337G= (p.Ala1113=) c.3271G= (p.Ala1091=) c.2684G= (n.2684G=) c.2743G= (p.Ala915=) c.3340G= (p.Ala1114=) c.2845G= (p.Ala949=) c.3358G= (p.Ala1120=) c.3076G= (p.Ala1026=) c.3220G= (p.Ala1074=) c.3217G= (p.Ala1073=) c.3079G= (p.Ala1027=) c.2752G= (p.Ala918=) c.2749G= (p.Ala917=) c.2848G= (p.Ala950=) c.*2776G= (n.*2776G=) c.2106+182185G= (n.2106+182185G=) c.498G= n.557G= | |
3 | g.184326892G>T | CA355413016 | EIF2B5,EIF4G1 | c.3337G>T (p.Ala1113Ser) c.3271G>T (p.Ala1091Ser) c.2684G>T (n.2684G>T) c.2743G>T (p.Ala915Ser) c.3340G>T (p.Ala1114Ser) c.2845G>T (p.Ala949Ser) c.3358G>T (p.Ala1120Ser) c.3076G>T (p.Ala1026Ser) c.3220G>T (p.Ala1074Ser) c.3217G>T (p.Ala1073Ser) c.3079G>T (p.Ala1027Ser) c.2752G>T (p.Ala918Ser) c.2749G>T (p.Ala917Ser) c.2848G>T (p.Ala950Ser) c.*2776G>T (n.*2776G>T) c.2106+182185G>T (n.2106+182185G>T) c.498G>T n.557G>T | |
3 | g.184326893C>A | CA355413036 | EIF2B5,EIF4G1 | c.3338C>A (p.Ala1113Asp) c.3272C>A (p.Ala1091Asp) c.2685C>A (n.2685C>A) c.2744C>A (p.Ala915Asp) c.3341C>A (p.Ala1114Asp) c.2846C>A (p.Ala949Asp) c.3359C>A (p.Ala1120Asp) c.3077C>A (p.Ala1026Asp) c.3221C>A (p.Ala1074Asp) c.3218C>A (p.Ala1073Asp) c.3080C>A (p.Ala1027Asp) c.2753C>A (p.Ala918Asp) c.2750C>A (p.Ala917Asp) c.2849C>A (p.Ala950Asp) c.*2777C>A (n.*2777C>A) c.2106+182186C>A (n.2106+182186C>A) c.499C>A n.558C>A | |
3 | g.184326893C= | CA1425957743 | EIF2B5,EIF4G1 | c.3338C= (p.Ala1113=) c.3272C= (p.Ala1091=) c.2685C= (n.2685C=) c.2744C= (p.Ala915=) c.3341C= (p.Ala1114=) c.2846C= (p.Ala949=) c.3359C= (p.Ala1120=) c.3077C= (p.Ala1026=) c.3221C= (p.Ala1074=) c.3218C= (p.Ala1073=) c.3080C= (p.Ala1027=) c.2753C= (p.Ala918=) c.2750C= (p.Ala917=) c.2849C= (p.Ala950=) c.*2777C= (n.*2777C=) c.2106+182186C= (n.2106+182186C=) c.499C= n.558C= | |
3 | g.184326893C>G | CA355413029 | EIF2B5,EIF4G1 | c.3338C>G (p.Ala1113Gly) c.3272C>G (p.Ala1091Gly) c.2685C>G (n.2685C>G) c.2744C>G (p.Ala915Gly) c.3341C>G (p.Ala1114Gly) c.2846C>G (p.Ala949Gly) c.3359C>G (p.Ala1120Gly) c.3077C>G (p.Ala1026Gly) c.3221C>G (p.Ala1074Gly) c.3218C>G (p.Ala1073Gly) c.3080C>G (p.Ala1027Gly) c.2753C>G (p.Ala918Gly) c.2750C>G (p.Ala917Gly) c.2849C>G (p.Ala950Gly) c.*2777C>G (n.*2777C>G) c.2106+182186C>G (n.2106+182186C>G) c.499C>G n.558C>G | |
3 | g.184326893C>T | CA355413033 | EIF2B5,EIF4G1 | c.3338C>T (p.Ala1113Val) c.3272C>T (p.Ala1091Val) c.2685C>T (n.2685C>T) c.2744C>T (p.Ala915Val) c.3341C>T (p.Ala1114Val) c.2846C>T (p.Ala949Val) c.3359C>T (p.Ala1120Val) c.3077C>T (p.Ala1026Val) c.3221C>T (p.Ala1074Val) c.3218C>T (p.Ala1073Val) c.3080C>T (p.Ala1027Val) c.2753C>T (p.Ala918Val) c.2750C>T (p.Ala917Val) c.2849C>T (p.Ala950Val) c.*2777C>T (n.*2777C>T) c.2106+182186C>T (n.2106+182186C>T) c.499C>T n.558C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184326894T>A | CA437162079 | EIF2B5,EIF4G1 | c.3339T>A (p.Ala1113=) c.3273T>A (p.Ala1091=) c.2686T>A (n.2686T>A) c.2745T>A (p.Ala915=) c.3342T>A (p.Ala1114=) c.2847T>A (p.Ala949=) c.3360T>A (p.Ala1120=) c.3078T>A (p.Ala1026=) c.3222T>A (p.Ala1074=) c.3219T>A (p.Ala1073=) c.3081T>A (p.Ala1027=) c.2754T>A (p.Ala918=) c.2751T>A (p.Ala917=) c.2850T>A (p.Ala950=) c.*2778T>A (n.*2778T>A) c.2106+182187T>A (n.2106+182187T>A) c.500T>A n.559T>A | |
3 | g.184326894T>C | CA437162080 | EIF2B5,EIF4G1 | c.3339T>C (p.Ala1113=) c.3273T>C (p.Ala1091=) c.2686T>C (n.2686T>C) c.2745T>C (p.Ala915=) c.3342T>C (p.Ala1114=) c.2847T>C (p.Ala949=) c.3360T>C (p.Ala1120=) c.3078T>C (p.Ala1026=) c.3222T>C (p.Ala1074=) c.3219T>C (p.Ala1073=) c.3081T>C (p.Ala1027=) c.2754T>C (p.Ala918=) c.2751T>C (p.Ala917=) c.2850T>C (p.Ala950=) c.*2778T>C (n.*2778T>C) c.2106+182187T>C (n.2106+182187T>C) c.500T>C n.559T>C | dbSNP |
3 | g.184326894T>G | CA437162081 | EIF2B5,EIF4G1 | c.3339T>G (p.Ala1113=) c.3273T>G (p.Ala1091=) c.2686T>G (n.2686T>G) c.2745T>G (p.Ala915=) c.3342T>G (p.Ala1114=) c.2847T>G (p.Ala949=) c.3360T>G (p.Ala1120=) c.3078T>G (p.Ala1026=) c.3222T>G (p.Ala1074=) c.3219T>G (p.Ala1073=) c.3081T>G (p.Ala1027=) c.2754T>G (p.Ala918=) c.2751T>G (p.Ala917=) c.2850T>G (p.Ala950=) c.*2778T>G (n.*2778T>G) c.2106+182187T>G (n.2106+182187T>G) c.500T>G n.559T>G | |
3 | g.184326895C>A | CA88867220 | EIF2B5,EIF4G1 | c.3340C>A (p.Arg1114Ser) c.3274C>A (p.Arg1092Ser) c.2687C>A (n.2687C>A) c.2746C>A (p.Arg916Ser) c.3343C>A (p.Arg1115Ser) c.2848C>A (p.Arg950Ser) c.3361C>A (p.Arg1121Ser) c.3079C>A (p.Arg1027Ser) c.3223C>A (p.Arg1075Ser) c.3220C>A (p.Arg1074Ser) c.3082C>A (p.Arg1028Ser) c.2755C>A (p.Arg919Ser) c.2752C>A (p.Arg918Ser) c.2851C>A (p.Arg951Ser) c.*2779C>A (n.*2779C>A) c.2106+182188C>A (n.2106+182188C>A) c.501C>A n.560C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326895C= | CA1425957748 | EIF2B5,EIF4G1 | c.3340C= (p.Arg1114=) c.3274C= (p.Arg1092=) c.2687C= (n.2687C=) c.2746C= (p.Arg916=) c.3343C= (p.Arg1115=) c.2848C= (p.Arg950=) c.3361C= (p.Arg1121=) c.3079C= (p.Arg1027=) c.3223C= (p.Arg1075=) c.3220C= (p.Arg1074=) c.3082C= (p.Arg1028=) c.2755C= (p.Arg919=) c.2752C= (p.Arg918=) c.2851C= (p.Arg951=) c.*2779C= (n.*2779C=) c.2106+182188C= (n.2106+182188C=) c.501C= n.560C= | |
3 | g.184326895C>G | CA355413042 | EIF2B5,EIF4G1 | c.3340C>G (p.Arg1114Gly) c.3274C>G (p.Arg1092Gly) c.2687C>G (n.2687C>G) c.2746C>G (p.Arg916Gly) c.3343C>G (p.Arg1115Gly) c.2848C>G (p.Arg950Gly) c.3361C>G (p.Arg1121Gly) c.3079C>G (p.Arg1027Gly) c.3223C>G (p.Arg1075Gly) c.3220C>G (p.Arg1074Gly) c.3082C>G (p.Arg1028Gly) c.2755C>G (p.Arg919Gly) c.2752C>G (p.Arg918Gly) c.2851C>G (p.Arg951Gly) c.*2779C>G (n.*2779C>G) c.2106+182188C>G (n.2106+182188C>G) c.501C>G n.560C>G | |
3 | g.184326895C>T | CA2732770 | EIF2B5,EIF4G1 | c.3340C>T (p.Arg1114Cys) c.3274C>T (p.Arg1092Cys) c.2687C>T (n.2687C>T) c.2746C>T (p.Arg916Cys) c.3343C>T (p.Arg1115Cys) c.2848C>T (p.Arg950Cys) c.3361C>T (p.Arg1121Cys) c.3079C>T (p.Arg1027Cys) c.3223C>T (p.Arg1075Cys) c.3220C>T (p.Arg1074Cys) c.3082C>T (p.Arg1028Cys) c.2755C>T (p.Arg919Cys) c.2752C>T (p.Arg918Cys) c.2851C>T (p.Arg951Cys) c.*2779C>T (n.*2779C>T) c.2106+182188C>T (n.2106+182188C>T) c.501C>T n.560C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326896G>A | CA88867225 | EIF2B5,EIF4G1 | c.3341G>A (p.Arg1114His) c.3275G>A (p.Arg1092His) c.2688G>A (n.2688G>A) c.2747G>A (p.Arg916His) c.3344G>A (p.Arg1115His) c.2849G>A (p.Arg950His) c.3362G>A (p.Arg1121His) c.3080G>A (p.Arg1027His) c.3224G>A (p.Arg1075His) c.3221G>A (p.Arg1074His) c.3083G>A (p.Arg1028His) c.2756G>A (p.Arg919His) c.2753G>A (p.Arg918His) c.2852G>A (p.Arg951His) c.*2780G>A (n.*2780G>A) c.2106+182189G>A (n.2106+182189G>A) c.502G>A n.561G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326896G>C | CA355413051 | EIF2B5,EIF4G1 | c.3341G>C (p.Arg1114Pro) c.3275G>C (p.Arg1092Pro) c.2688G>C (n.2688G>C) c.2747G>C (p.Arg916Pro) c.3344G>C (p.Arg1115Pro) c.2849G>C (p.Arg950Pro) c.3362G>C (p.Arg1121Pro) c.3080G>C (p.Arg1027Pro) c.3224G>C (p.Arg1075Pro) c.3221G>C (p.Arg1074Pro) c.3083G>C (p.Arg1028Pro) c.2756G>C (p.Arg919Pro) c.2753G>C (p.Arg918Pro) c.2852G>C (p.Arg951Pro) c.*2780G>C (n.*2780G>C) c.2106+182189G>C (n.2106+182189G>C) c.502G>C n.561G>C | |
3 | g.184326896G= | CA1425957752 | EIF2B5,EIF4G1 | c.3341G= (p.Arg1114=) c.3275G= (p.Arg1092=) c.2688G= (n.2688G=) c.2747G= (p.Arg916=) c.3344G= (p.Arg1115=) c.2849G= (p.Arg950=) c.3362G= (p.Arg1121=) c.3080G= (p.Arg1027=) c.3224G= (p.Arg1075=) c.3221G= (p.Arg1074=) c.3083G= (p.Arg1028=) c.2756G= (p.Arg919=) c.2753G= (p.Arg918=) c.2852G= (p.Arg951=) c.*2780G= (n.*2780G=) c.2106+182189G= (n.2106+182189G=) c.502G= n.561G= | |
3 | g.184326896G>T | CA355413054 | EIF2B5,EIF4G1 | c.3341G>T (p.Arg1114Leu) c.3275G>T (p.Arg1092Leu) c.2688G>T (n.2688G>T) c.2747G>T (p.Arg916Leu) c.3344G>T (p.Arg1115Leu) c.2849G>T (p.Arg950Leu) c.3362G>T (p.Arg1121Leu) c.3080G>T (p.Arg1027Leu) c.3224G>T (p.Arg1075Leu) c.3221G>T (p.Arg1074Leu) c.3083G>T (p.Arg1028Leu) c.2756G>T (p.Arg919Leu) c.2753G>T (p.Arg918Leu) c.2852G>T (p.Arg951Leu) c.*2780G>T (n.*2780G>T) c.2106+182189G>T (n.2106+182189G>T) c.502G>T n.561G>T | |
3 | g.184326897C>A | CA437162084 | EIF2B5,EIF4G1 | c.3342C>A (p.Arg1114=) c.3276C>A (p.Arg1092=) c.2689C>A (n.2689C>A) c.2748C>A (p.Arg916=) c.3345C>A (p.Arg1115=) c.2850C>A (p.Arg950=) c.3363C>A (p.Arg1121=) c.3081C>A (p.Arg1027=) c.3225C>A (p.Arg1075=) c.3222C>A (p.Arg1074=) c.3084C>A (p.Arg1028=) c.2757C>A (p.Arg919=) c.2754C>A (p.Arg918=) c.2853C>A (p.Arg951=) c.*2781C>A (n.*2781C>A) c.2106+182190C>A (n.2106+182190C>A) c.503C>A n.562C>A | |
3 | g.184326897C= | CA1425957755 | EIF2B5,EIF4G1 | c.3342C= (p.Arg1114=) c.3276C= (p.Arg1092=) c.2689C= (n.2689C=) c.2748C= (p.Arg916=) c.3345C= (p.Arg1115=) c.2850C= (p.Arg950=) c.3363C= (p.Arg1121=) c.3081C= (p.Arg1027=) c.3225C= (p.Arg1075=) c.3222C= (p.Arg1074=) c.3084C= (p.Arg1028=) c.2757C= (p.Arg919=) c.2754C= (p.Arg918=) c.2853C= (p.Arg951=) c.*2781C= (n.*2781C=) c.2106+182190C= (n.2106+182190C=) c.503C= n.562C= | |
3 | g.184326897C>G | CA437162082 | EIF2B5,EIF4G1 | c.3342C>G (p.Arg1114=) c.3276C>G (p.Arg1092=) c.2689C>G (n.2689C>G) c.2748C>G (p.Arg916=) c.3345C>G (p.Arg1115=) c.2850C>G (p.Arg950=) c.3363C>G (p.Arg1121=) c.3081C>G (p.Arg1027=) c.3225C>G (p.Arg1075=) c.3222C>G (p.Arg1074=) c.3084C>G (p.Arg1028=) c.2757C>G (p.Arg919=) c.2754C>G (p.Arg918=) c.2853C>G (p.Arg951=) c.*2781C>G (n.*2781C>G) c.2106+182190C>G (n.2106+182190C>G) c.503C>G n.562C>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184326897C>T | CA437162083 | EIF2B5,EIF4G1 | c.3342C>T (p.Arg1114=) c.3276C>T (p.Arg1092=) c.2689C>T (n.2689C>T) c.2748C>T (p.Arg916=) c.3345C>T (p.Arg1115=) c.2850C>T (p.Arg950=) c.3363C>T (p.Arg1121=) c.3081C>T (p.Arg1027=) c.3225C>T (p.Arg1075=) c.3222C>T (p.Arg1074=) c.3084C>T (p.Arg1028=) c.2757C>T (p.Arg919=) c.2754C>T (p.Arg918=) c.2853C>T (p.Arg951=) c.*2781C>T (n.*2781C>T) c.2106+182190C>T (n.2106+182190C>T) c.503C>T n.562C>T | |
3 | g.184326898C>A | CA355413061 | EIF2B5,EIF4G1 | c.3343C>A (p.Pro1115Thr) c.3277C>A (p.Pro1093Thr) c.2690C>A (n.2690C>A) c.2749C>A (p.Pro917Thr) c.3346C>A (p.Pro1116Thr) c.2851C>A (p.Pro951Thr) c.3364C>A (p.Pro1122Thr) c.3082C>A (p.Pro1028Thr) c.3226C>A (p.Pro1076Thr) c.3223C>A (p.Pro1075Thr) c.3085C>A (p.Pro1029Thr) c.2758C>A (p.Pro920Thr) c.2755C>A (p.Pro919Thr) c.2854C>A (p.Pro952Thr) c.*2782C>A (n.*2782C>A) c.2106+182191C>A (n.2106+182191C>A) c.504C>A n.563C>A | |
3 | g.184326898C= | CA1425957757 | EIF2B5,EIF4G1 | c.3343C= (p.Pro1115=) c.3277C= (p.Pro1093=) c.2690C= (n.2690C=) c.2749C= (p.Pro917=) c.3346C= (p.Pro1116=) c.2851C= (p.Pro951=) c.3364C= (p.Pro1122=) c.3082C= (p.Pro1028=) c.3226C= (p.Pro1076=) c.3223C= (p.Pro1075=) c.3085C= (p.Pro1029=) c.2758C= (p.Pro920=) c.2755C= (p.Pro919=) c.2854C= (p.Pro952=) c.*2782C= (n.*2782C=) c.2106+182191C= (n.2106+182191C=) c.504C= n.563C= | |
3 | g.184326898C>G | CA355413063 | EIF2B5,EIF4G1 | c.3343C>G (p.Pro1115Ala) c.3277C>G (p.Pro1093Ala) c.2690C>G (n.2690C>G) c.2749C>G (p.Pro917Ala) c.3346C>G (p.Pro1116Ala) c.2851C>G (p.Pro951Ala) c.3364C>G (p.Pro1122Ala) c.3082C>G (p.Pro1028Ala) c.3226C>G (p.Pro1076Ala) c.3223C>G (p.Pro1075Ala) c.3085C>G (p.Pro1029Ala) c.2758C>G (p.Pro920Ala) c.2755C>G (p.Pro919Ala) c.2854C>G (p.Pro952Ala) c.*2782C>G (n.*2782C>G) c.2106+182191C>G (n.2106+182191C>G) c.504C>G n.563C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326898C>T | CA355413067 | EIF2B5,EIF4G1 | c.3343C>T (p.Pro1115Ser) c.3277C>T (p.Pro1093Ser) c.2690C>T (n.2690C>T) c.2749C>T (p.Pro917Ser) c.3346C>T (p.Pro1116Ser) c.2851C>T (p.Pro951Ser) c.3364C>T (p.Pro1122Ser) c.3082C>T (p.Pro1028Ser) c.3226C>T (p.Pro1076Ser) c.3223C>T (p.Pro1075Ser) c.3085C>T (p.Pro1029Ser) c.2758C>T (p.Pro920Ser) c.2755C>T (p.Pro919Ser) c.2854C>T (p.Pro952Ser) c.*2782C>T (n.*2782C>T) c.2106+182191C>T (n.2106+182191C>T) c.504C>T n.563C>T | |
3 | g.184326899C>A | CA355413076 | EIF2B5,EIF4G1 | c.3344C>A (p.Pro1115Gln) c.3278C>A (p.Pro1093Gln) c.2691C>A (n.2691C>A) c.2750C>A (p.Pro917Gln) c.3347C>A (p.Pro1116Gln) c.2852C>A (p.Pro951Gln) c.3365C>A (p.Pro1122Gln) c.3083C>A (p.Pro1028Gln) c.3227C>A (p.Pro1076Gln) c.3224C>A (p.Pro1075Gln) c.3086C>A (p.Pro1029Gln) c.2759C>A (p.Pro920Gln) c.2756C>A (p.Pro919Gln) c.2855C>A (p.Pro952Gln) c.*2783C>A (n.*2783C>A) c.2106+182192C>A (n.2106+182192C>A) c.505C>A n.564C>A | |
3 | g.184326899C= | CA1425957761 | EIF2B5,EIF4G1 | c.3344C= (p.Pro1115=) c.3278C= (p.Pro1093=) c.2691C= (n.2691C=) c.2750C= (p.Pro917=) c.3347C= (p.Pro1116=) c.2852C= (p.Pro951=) c.3365C= (p.Pro1122=) c.3083C= (p.Pro1028=) c.3227C= (p.Pro1076=) c.3224C= (p.Pro1075=) c.3086C= (p.Pro1029=) c.2759C= (p.Pro920=) c.2756C= (p.Pro919=) c.2855C= (p.Pro952=) c.*2783C= (n.*2783C=) c.2106+182192C= (n.2106+182192C=) c.505C= n.564C= | |
3 | g.184326899C>G | CA355413074 | EIF2B5,EIF4G1 | c.3344C>G (p.Pro1115Arg) c.3278C>G (p.Pro1093Arg) c.2691C>G (n.2691C>G) c.2750C>G (p.Pro917Arg) c.3347C>G (p.Pro1116Arg) c.2852C>G (p.Pro951Arg) c.3365C>G (p.Pro1122Arg) c.3083C>G (p.Pro1028Arg) c.3227C>G (p.Pro1076Arg) c.3224C>G (p.Pro1075Arg) c.3086C>G (p.Pro1029Arg) c.2759C>G (p.Pro920Arg) c.2756C>G (p.Pro919Arg) c.2855C>G (p.Pro952Arg) c.*2783C>G (n.*2783C>G) c.2106+182192C>G (n.2106+182192C>G) c.505C>G n.564C>G | |
3 | g.184326899C>T | CA355413071 | EIF2B5,EIF4G1 | c.3344C>T (p.Pro1115Leu) c.3278C>T (p.Pro1093Leu) c.2691C>T (n.2691C>T) c.2750C>T (p.Pro917Leu) c.3347C>T (p.Pro1116Leu) c.2852C>T (p.Pro951Leu) c.3365C>T (p.Pro1122Leu) c.3083C>T (p.Pro1028Leu) c.3227C>T (p.Pro1076Leu) c.3224C>T (p.Pro1075Leu) c.3086C>T (p.Pro1029Leu) c.2759C>T (p.Pro920Leu) c.2756C>T (p.Pro919Leu) c.2855C>T (p.Pro952Leu) c.*2783C>T (n.*2783C>T) c.2106+182192C>T (n.2106+182192C>T) c.505C>T n.564C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184326900A= | CA1425957763 | EIF2B5,EIF4G1 | c.3345A= (p.Pro1115=) c.3279A= (p.Pro1093=) c.2692A= (n.2692A=) c.2751A= (p.Pro917=) c.3348A= (p.Pro1116=) c.2853A= (p.Pro951=) c.3366A= (p.Pro1122=) c.3084A= (p.Pro1028=) c.3228A= (p.Pro1076=) c.3225A= (p.Pro1075=) c.3087A= (p.Pro1029=) c.2760A= (p.Pro920=) c.2757A= (p.Pro919=) c.2856A= (p.Pro952=) c.*2784A= (n.*2784A=) c.2106+182193A= (n.2106+182193A=) c.506A= n.565A= | |
3 | g.184326900A>C | CA437162085 | EIF2B5,EIF4G1 | c.3345A>C (p.Pro1115=) c.3279A>C (p.Pro1093=) c.2692A>C (n.2692A>C) c.2751A>C (p.Pro917=) c.3348A>C (p.Pro1116=) c.2853A>C (p.Pro951=) c.3366A>C (p.Pro1122=) c.3084A>C (p.Pro1028=) c.3228A>C (p.Pro1076=) c.3225A>C (p.Pro1075=) c.3087A>C (p.Pro1029=) c.2760A>C (p.Pro920=) c.2757A>C (p.Pro919=) c.2856A>C (p.Pro952=) c.*2784A>C (n.*2784A>C) c.2106+182193A>C (n.2106+182193A>C) c.506A>C n.565A>C | |
3 | g.184326900A>G | CA437162086 | EIF2B5,EIF4G1 | c.3345A>G (p.Pro1115=) c.3279A>G (p.Pro1093=) c.2692A>G (n.2692A>G) c.2751A>G (p.Pro917=) c.3348A>G (p.Pro1116=) c.2853A>G (p.Pro951=) c.3366A>G (p.Pro1122=) c.3084A>G (p.Pro1028=) c.3228A>G (p.Pro1076=) c.3225A>G (p.Pro1075=) c.3087A>G (p.Pro1029=) c.2760A>G (p.Pro920=) c.2757A>G (p.Pro919=) c.2856A>G (p.Pro952=) c.*2784A>G (n.*2784A>G) c.2106+182193A>G (n.2106+182193A>G) c.506A>G n.565A>G | |
3 | g.184326900A>T | CA437162087 | EIF2B5,EIF4G1 | c.3345A>T (p.Pro1115=) c.3279A>T (p.Pro1093=) c.2692A>T (n.2692A>T) c.2751A>T (p.Pro917=) c.3348A>T (p.Pro1116=) c.2853A>T (p.Pro951=) c.3366A>T (p.Pro1122=) c.3084A>T (p.Pro1028=) c.3228A>T (p.Pro1076=) c.3225A>T (p.Pro1075=) c.3087A>T (p.Pro1029=) c.2760A>T (p.Pro920=) c.2757A>T (p.Pro919=) c.2856A>T (p.Pro952=) c.*2784A>T (n.*2784A>T) c.2106+182193A>T (n.2106+182193A>T) c.506A>T n.565A>T | |
3 | g.184326901G>A | CA88867228 | EIF2B5,EIF4G1 | c.3346G>A (p.Ala1116Thr) c.3280G>A (p.Ala1094Thr) c.2693G>A (n.2693G>A) c.2752G>A (p.Ala918Thr) c.3349G>A (p.Ala1117Thr) c.2854G>A (p.Ala952Thr) c.3367G>A (p.Ala1123Thr) c.3085G>A (p.Ala1029Thr) c.3229G>A (p.Ala1077Thr) c.3226G>A (p.Ala1076Thr) c.3088G>A (p.Ala1030Thr) c.2761G>A (p.Ala921Thr) c.2758G>A (p.Ala920Thr) c.2857G>A (p.Ala953Thr) c.*2785G>A (n.*2785G>A) c.2106+182194G>A (n.2106+182194G>A) c.507G>A n.566G>A | dbSNP |
3 | g.184326901G>C | CA355413081 | EIF2B5,EIF4G1 | c.3346G>C (p.Ala1116Pro) c.3280G>C (p.Ala1094Pro) c.2693G>C (n.2693G>C) c.2752G>C (p.Ala918Pro) c.3349G>C (p.Ala1117Pro) c.2854G>C (p.Ala952Pro) c.3367G>C (p.Ala1123Pro) c.3085G>C (p.Ala1029Pro) c.3229G>C (p.Ala1077Pro) c.3226G>C (p.Ala1076Pro) c.3088G>C (p.Ala1030Pro) c.2761G>C (p.Ala921Pro) c.2758G>C (p.Ala920Pro) c.2857G>C (p.Ala953Pro) c.*2785G>C (n.*2785G>C) c.2106+182194G>C (n.2106+182194G>C) c.507G>C n.566G>C | |
3 | g.184326901G= | CA1425957767 | EIF2B5,EIF4G1 | c.3346G= (p.Ala1116=) c.3280G= (p.Ala1094=) c.2693G= (n.2693G=) c.2752G= (p.Ala918=) c.3349G= (p.Ala1117=) c.2854G= (p.Ala952=) c.3367G= (p.Ala1123=) c.3085G= (p.Ala1029=) c.3229G= (p.Ala1077=) c.3226G= (p.Ala1076=) c.3088G= (p.Ala1030=) c.2761G= (p.Ala921=) c.2758G= (p.Ala920=) c.2857G= (p.Ala953=) c.*2785G= (n.*2785G=) c.2106+182194G= (n.2106+182194G=) c.507G= n.566G= | |
3 | g.184326901G>T | CA355413084 | EIF2B5,EIF4G1 | c.3346G>T (p.Ala1116Ser) c.3280G>T (p.Ala1094Ser) c.2693G>T (n.2693G>T) c.2752G>T (p.Ala918Ser) c.3349G>T (p.Ala1117Ser) c.2854G>T (p.Ala952Ser) c.3367G>T (p.Ala1123Ser) c.3085G>T (p.Ala1029Ser) c.3229G>T (p.Ala1077Ser) c.3226G>T (p.Ala1076Ser) c.3088G>T (p.Ala1030Ser) c.2761G>T (p.Ala921Ser) c.2758G>T (p.Ala920Ser) c.2857G>T (p.Ala953Ser) c.*2785G>T (n.*2785G>T) c.2106+182194G>T (n.2106+182194G>T) c.507G>T n.566G>T | |
3 | g.184326901_184326903dup | CA548796073 | EIF2B5,EIF4G1 | c.3346_3348dup (p.Ala1116_Thr1117insAla) c.3280_3282dup (p.Ala1094_Thr1095insAla) c.2693_2695dup (n.2693_2695dup) c.2752_2754dup (p.Ala918_Thr919insAla) c.3349_3351dup (p.Ala1117_Thr1118insAla) c.2854_2856dup (p.Ala952_Thr953insAla) c.3367_3369dup (p.Ala1123_Thr1124insAla) c.3085_3087dup (p.Ala1029_Thr1030insAla) c.3229_3231dup (p.Ala1077_Thr1078insAla) c.3226_3228dup (p.Ala1076_Thr1077insAla) c.3088_3090dup (p.Ala1030_Thr1031insAla) c.2761_2763dup (p.Ala921_Thr922insAla) c.2758_2760dup (p.Ala920_Thr921insAla) c.2857_2859dup (p.Ala953_Thr954insAla) c.*2785_*2787dup (n.*2785_*2787dup) c.2106+182194_2106+182196dup (n.2106+182194_2106+182196dup) c.507_509dup n.566_568dup | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184326902C>A | CA355413090 | EIF2B5,EIF4G1 | c.3347C>A (p.Ala1116Asp) c.3281C>A (p.Ala1094Asp) c.2694C>A (n.2694C>A) c.2753C>A (p.Ala918Asp) c.3350C>A (p.Ala1117Asp) c.2855C>A (p.Ala952Asp) c.3368C>A (p.Ala1123Asp) c.3086C>A (p.Ala1029Asp) c.3230C>A (p.Ala1077Asp) c.3227C>A (p.Ala1076Asp) c.3089C>A (p.Ala1030Asp) c.2762C>A (p.Ala921Asp) c.2759C>A (p.Ala920Asp) c.2858C>A (p.Ala953Asp) c.*2786C>A (n.*2786C>A) c.2106+182195C>A (n.2106+182195C>A) c.508C>A n.567C>A | |
3 | g.184326902C= | CA1425957769 | EIF2B5,EIF4G1 | c.3347C= (p.Ala1116=) c.3281C= (p.Ala1094=) c.2694C= (n.2694C=) c.2753C= (p.Ala918=) c.3350C= (p.Ala1117=) c.2855C= (p.Ala952=) c.3368C= (p.Ala1123=) c.3086C= (p.Ala1029=) c.3230C= (p.Ala1077=) c.3227C= (p.Ala1076=) c.3089C= (p.Ala1030=) c.2762C= (p.Ala921=) c.2759C= (p.Ala920=) c.2858C= (p.Ala953=) c.*2786C= (n.*2786C=) c.2106+182195C= (n.2106+182195C=) c.508C= n.567C= | |
3 | g.184326902C>G | CA355413091 | EIF2B5,EIF4G1 | c.3347C>G (p.Ala1116Gly) c.3281C>G (p.Ala1094Gly) c.2694C>G (n.2694C>G) c.2753C>G (p.Ala918Gly) c.3350C>G (p.Ala1117Gly) c.2855C>G (p.Ala952Gly) c.3368C>G (p.Ala1123Gly) c.3086C>G (p.Ala1029Gly) c.3230C>G (p.Ala1077Gly) c.3227C>G (p.Ala1076Gly) c.3089C>G (p.Ala1030Gly) c.2762C>G (p.Ala921Gly) c.2759C>G (p.Ala920Gly) c.2858C>G (p.Ala953Gly) c.*2786C>G (n.*2786C>G) c.2106+182195C>G (n.2106+182195C>G) c.508C>G n.567C>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184326902C>T | CA355413094 | EIF2B5,EIF4G1 | c.3347C>T (p.Ala1116Val) c.3281C>T (p.Ala1094Val) c.2694C>T (n.2694C>T) c.2753C>T (p.Ala918Val) c.3350C>T (p.Ala1117Val) c.2855C>T (p.Ala952Val) c.3368C>T (p.Ala1123Val) c.3086C>T (p.Ala1029Val) c.3230C>T (p.Ala1077Val) c.3227C>T (p.Ala1076Val) c.3089C>T (p.Ala1030Val) c.2762C>T (p.Ala921Val) c.2759C>T (p.Ala920Val) c.2858C>T (p.Ala953Val) c.*2786C>T (n.*2786C>T) c.2106+182195C>T (n.2106+182195C>T) c.508C>T n.567C>T | |
3 | g.184326903T>A | CA437162090 | EIF2B5,EIF4G1 | c.3348T>A (p.Ala1116=) c.3282T>A (p.Ala1094=) c.2695T>A (n.2695T>A) c.2754T>A (p.Ala918=) c.3351T>A (p.Ala1117=) c.2856T>A (p.Ala952=) c.3369T>A (p.Ala1123=) c.3087T>A (p.Ala1029=) c.3231T>A (p.Ala1077=) c.3228T>A (p.Ala1076=) c.3090T>A (p.Ala1030=) c.2763T>A (p.Ala921=) c.2760T>A (p.Ala920=) c.2859T>A (p.Ala953=) c.*2787T>A (n.*2787T>A) c.2106+182196T>A (n.2106+182196T>A) c.509T>A n.568T>A | |
3 | g.184326903T>C | CA437162088 | EIF2B5,EIF4G1 | c.3348T>C (p.Ala1116=) c.3282T>C (p.Ala1094=) c.2695T>C (n.2695T>C) c.2754T>C (p.Ala918=) c.3351T>C (p.Ala1117=) c.2856T>C (p.Ala952=) c.3369T>C (p.Ala1123=) c.3087T>C (p.Ala1029=) c.3231T>C (p.Ala1077=) c.3228T>C (p.Ala1076=) c.3090T>C (p.Ala1030=) c.2763T>C (p.Ala921=) c.2760T>C (p.Ala920=) c.2859T>C (p.Ala953=) c.*2787T>C (n.*2787T>C) c.2106+182196T>C (n.2106+182196T>C) c.509T>C n.568T>C | |
3 | g.184326903T>G | CA437162089 | EIF2B5,EIF4G1 | c.3348T>G (p.Ala1116=) c.3282T>G (p.Ala1094=) c.2695T>G (n.2695T>G) c.2754T>G (p.Ala918=) c.3351T>G (p.Ala1117=) c.2856T>G (p.Ala952=) c.3369T>G (p.Ala1123=) c.3087T>G (p.Ala1029=) c.3231T>G (p.Ala1077=) c.3228T>G (p.Ala1076=) c.3090T>G (p.Ala1030=) c.2763T>G (p.Ala921=) c.2760T>G (p.Ala920=) c.2859T>G (p.Ala953=) c.*2787T>G (n.*2787T>G) c.2106+182196T>G (n.2106+182196T>G) c.509T>G n.568T>G | |
3 | g.184326904A= | CA1425957773 | EIF2B5,EIF4G1 | c.3349A= (p.Thr1117=) c.3283A= (p.Thr1095=) c.2696A= (n.2696A=) c.2755A= (p.Thr919=) c.3352A= (p.Thr1118=) c.2857A= (p.Thr953=) c.3370A= (p.Thr1124=) c.3088A= (p.Thr1030=) c.3232A= (p.Thr1078=) c.3229A= (p.Thr1077=) c.3091A= (p.Thr1031=) c.2764A= (p.Thr922=) c.2761A= (p.Thr921=) c.2860A= (p.Thr954=) c.*2788A= (n.*2788A=) c.2106+182197A= (n.2106+182197A=) c.510A= n.569A= | |
3 | g.184326904A>C | CA355413097 | EIF2B5,EIF4G1 | c.3349A>C (p.Thr1117Pro) c.3283A>C (p.Thr1095Pro) c.2696A>C (n.2696A>C) c.2755A>C (p.Thr919Pro) c.3352A>C (p.Thr1118Pro) c.2857A>C (p.Thr953Pro) c.3370A>C (p.Thr1124Pro) c.3088A>C (p.Thr1030Pro) c.3232A>C (p.Thr1078Pro) c.3229A>C (p.Thr1077Pro) c.3091A>C (p.Thr1031Pro) c.2764A>C (p.Thr922Pro) c.2761A>C (p.Thr921Pro) c.2860A>C (p.Thr954Pro) c.*2788A>C (n.*2788A>C) c.2106+182197A>C (n.2106+182197A>C) c.510A>C n.569A>C | |
3 | g.184326904A>G | CA88867229 | EIF2B5,EIF4G1 | c.3349A>G (p.Thr1117Ala) c.3283A>G (p.Thr1095Ala) c.2696A>G (n.2696A>G) c.2755A>G (p.Thr919Ala) c.3352A>G (p.Thr1118Ala) c.2857A>G (p.Thr953Ala) c.3370A>G (p.Thr1124Ala) c.3088A>G (p.Thr1030Ala) c.3232A>G (p.Thr1078Ala) c.3229A>G (p.Thr1077Ala) c.3091A>G (p.Thr1031Ala) c.2764A>G (p.Thr922Ala) c.2761A>G (p.Thr921Ala) c.2860A>G (p.Thr954Ala) c.*2788A>G (n.*2788A>G) c.2106+182197A>G (n.2106+182197A>G) c.510A>G n.569A>G | dbSNP gnomAD v4 COSMIC |
3 | g.184326904A>T | CA355413101 | EIF2B5,EIF4G1 | c.3349A>T (p.Thr1117Ser) c.3283A>T (p.Thr1095Ser) c.2696A>T (n.2696A>T) c.2755A>T (p.Thr919Ser) c.3352A>T (p.Thr1118Ser) c.2857A>T (p.Thr953Ser) c.3370A>T (p.Thr1124Ser) c.3088A>T (p.Thr1030Ser) c.3232A>T (p.Thr1078Ser) c.3229A>T (p.Thr1077Ser) c.3091A>T (p.Thr1031Ser) c.2764A>T (p.Thr922Ser) c.2761A>T (p.Thr921Ser) c.2860A>T (p.Thr954Ser) c.*2788A>T (n.*2788A>T) c.2106+182197A>T (n.2106+182197A>T) c.510A>T n.569A>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184326905C>A | CA355413105 | EIF2B5,EIF4G1 | c.3350C>A (p.Thr1117Asn) c.3284C>A (p.Thr1095Asn) c.2697C>A (n.2697C>A) c.2756C>A (p.Thr919Asn) c.3353C>A (p.Thr1118Asn) c.2858C>A (p.Thr953Asn) c.3371C>A (p.Thr1124Asn) c.3089C>A (p.Thr1030Asn) c.3233C>A (p.Thr1078Asn) c.3230C>A (p.Thr1077Asn) c.3092C>A (p.Thr1031Asn) c.2765C>A (p.Thr922Asn) c.2762C>A (p.Thr921Asn) c.2861C>A (p.Thr954Asn) c.*2789C>A (n.*2789C>A) c.2106+182198C>A (n.2106+182198C>A) c.511C>A n.570C>A | |
3 | g.184326905C>G | CA355413106 | EIF2B5,EIF4G1 | c.3350C>G (p.Thr1117Ser) c.3284C>G (p.Thr1095Ser) c.2697C>G (n.2697C>G) c.2756C>G (p.Thr919Ser) c.3353C>G (p.Thr1118Ser) c.2858C>G (p.Thr953Ser) c.3371C>G (p.Thr1124Ser) c.3089C>G (p.Thr1030Ser) c.3233C>G (p.Thr1078Ser) c.3230C>G (p.Thr1077Ser) c.3092C>G (p.Thr1031Ser) c.2765C>G (p.Thr922Ser) c.2762C>G (p.Thr921Ser) c.2861C>G (p.Thr954Ser) c.*2789C>G (n.*2789C>G) c.2106+182198C>G (n.2106+182198C>G) c.511C>G n.570C>G | |
3 | g.184326905C>T | CA355413110 | EIF2B5,EIF4G1 | c.3350C>T (p.Thr1117Ile) c.3284C>T (p.Thr1095Ile) c.2697C>T (n.2697C>T) c.2756C>T (p.Thr919Ile) c.3353C>T (p.Thr1118Ile) c.2858C>T (p.Thr953Ile) c.3371C>T (p.Thr1124Ile) c.3089C>T (p.Thr1030Ile) c.3233C>T (p.Thr1078Ile) c.3230C>T (p.Thr1077Ile) c.3092C>T (p.Thr1031Ile) c.2765C>T (p.Thr922Ile) c.2762C>T (p.Thr921Ile) c.2861C>T (p.Thr954Ile) c.*2789C>T (n.*2789C>T) c.2106+182198C>T (n.2106+182198C>T) c.511C>T n.570C>T | gnomAD v4 |
3 | g.184326906T>A | CA437162091 | EIF2B5,EIF4G1 | c.3351T>A (p.Thr1117=) c.3285T>A (p.Thr1095=) c.2698T>A (n.2698T>A) c.2757T>A (p.Thr919=) c.3354T>A (p.Thr1118=) c.2859T>A (p.Thr953=) c.3372T>A (p.Thr1124=) c.3090T>A (p.Thr1030=) c.3234T>A (p.Thr1078=) c.3231T>A (p.Thr1077=) c.3093T>A (p.Thr1031=) c.2766T>A (p.Thr922=) c.2763T>A (p.Thr921=) c.2862T>A (p.Thr954=) c.*2790T>A (n.*2790T>A) c.2106+182199T>A (n.2106+182199T>A) c.512T>A n.571T>A | |
3 | g.184326906T>C | CA437162092 | EIF2B5,EIF4G1 | c.3351T>C (p.Thr1117=) c.3285T>C (p.Thr1095=) c.2698T>C (n.2698T>C) c.2757T>C (p.Thr919=) c.3354T>C (p.Thr1118=) c.2859T>C (p.Thr953=) c.3372T>C (p.Thr1124=) c.3090T>C (p.Thr1030=) c.3234T>C (p.Thr1078=) c.3231T>C (p.Thr1077=) c.3093T>C (p.Thr1031=) c.2766T>C (p.Thr922=) c.2763T>C (p.Thr921=) c.2862T>C (p.Thr954=) c.*2790T>C (n.*2790T>C) c.2106+182199T>C (n.2106+182199T>C) c.512T>C n.571T>C | |
3 | g.184326906T>G | CA437162093 | EIF2B5,EIF4G1 | c.3351T>G (p.Thr1117=) c.3285T>G (p.Thr1095=) c.2698T>G (n.2698T>G) c.2757T>G (p.Thr919=) c.3354T>G (p.Thr1118=) c.2859T>G (p.Thr953=) c.3372T>G (p.Thr1124=) c.3090T>G (p.Thr1030=) c.3234T>G (p.Thr1078=) c.3231T>G (p.Thr1077=) c.3093T>G (p.Thr1031=) c.2766T>G (p.Thr922=) c.2763T>G (p.Thr921=) c.2862T>G (p.Thr954=) c.*2790T>G (n.*2790T>G) c.2106+182199T>G (n.2106+182199T>G) c.512T>G n.571T>G | |
3 | g.184326907A>C | CA355413119 | EIF2B5,EIF4G1 | c.3352A>C (p.Ser1118Arg) c.3286A>C (p.Ser1096Arg) c.2699A>C (n.2699A>C) c.2758A>C (p.Ser920Arg) c.3355A>C (p.Ser1119Arg) c.2860A>C (p.Ser954Arg) c.3373A>C (p.Ser1125Arg) c.3091A>C (p.Ser1031Arg) c.3235A>C (p.Ser1079Arg) c.3232A>C (p.Ser1078Arg) c.3094A>C (p.Ser1032Arg) c.2767A>C (p.Ser923Arg) c.2764A>C (p.Ser922Arg) c.2863A>C (p.Ser955Arg) c.*2791A>C (n.*2791A>C) c.2106+182200A>C (n.2106+182200A>C) c.513A>C n.572A>C | |
3 | g.184326907A>G | CA355413122 | EIF2B5,EIF4G1 | c.3352A>G (p.Ser1118Gly) c.3286A>G (p.Ser1096Gly) c.2699A>G (n.2699A>G) c.2758A>G (p.Ser920Gly) c.3355A>G (p.Ser1119Gly) c.2860A>G (p.Ser954Gly) c.3373A>G (p.Ser1125Gly) c.3091A>G (p.Ser1031Gly) c.3235A>G (p.Ser1079Gly) c.3232A>G (p.Ser1078Gly) c.3094A>G (p.Ser1032Gly) c.2767A>G (p.Ser923Gly) c.2764A>G (p.Ser922Gly) c.2863A>G (p.Ser955Gly) c.*2791A>G (n.*2791A>G) c.2106+182200A>G (n.2106+182200A>G) c.513A>G n.572A>G | gnomAD v4 |
3 | g.184326907A>T | CA355413116 | EIF2B5,EIF4G1 | c.3352A>T (p.Ser1118Cys) c.3286A>T (p.Ser1096Cys) c.2699A>T (n.2699A>T) c.2758A>T (p.Ser920Cys) c.3355A>T (p.Ser1119Cys) c.2860A>T (p.Ser954Cys) c.3373A>T (p.Ser1125Cys) c.3091A>T (p.Ser1031Cys) c.3235A>T (p.Ser1079Cys) c.3232A>T (p.Ser1078Cys) c.3094A>T (p.Ser1032Cys) c.2767A>T (p.Ser923Cys) c.2764A>T (p.Ser922Cys) c.2863A>T (p.Ser955Cys) c.*2791A>T (n.*2791A>T) c.2106+182200A>T (n.2106+182200A>T) c.513A>T n.572A>T | |
3 | g.184326908G>A | CA355413125 | EIF2B5,EIF4G1 | c.3353G>A (p.Ser1118Asn) c.3287G>A (p.Ser1096Asn) c.2700G>A (n.2700G>A) c.2759G>A (p.Ser920Asn) c.3356G>A (p.Ser1119Asn) c.2861G>A (p.Ser954Asn) c.3374G>A (p.Ser1125Asn) c.3092G>A (p.Ser1031Asn) c.3236G>A (p.Ser1079Asn) c.3233G>A (p.Ser1078Asn) c.3095G>A (p.Ser1032Asn) c.2768G>A (p.Ser923Asn) c.2765G>A (p.Ser922Asn) c.2864G>A (p.Ser955Asn) c.*2792G>A (n.*2792G>A) c.2106+182201G>A (n.2106+182201G>A) c.514G>A n.573G>A | gnomAD v4 |
3 | g.184326908G>C | CA355413129 | EIF2B5,EIF4G1 | c.3353G>C (p.Ser1118Thr) c.3287G>C (p.Ser1096Thr) c.2700G>C (n.2700G>C) c.2759G>C (p.Ser920Thr) c.3356G>C (p.Ser1119Thr) c.2861G>C (p.Ser954Thr) c.3374G>C (p.Ser1125Thr) c.3092G>C (p.Ser1031Thr) c.3236G>C (p.Ser1079Thr) c.3233G>C (p.Ser1078Thr) c.3095G>C (p.Ser1032Thr) c.2768G>C (p.Ser923Thr) c.2765G>C (p.Ser922Thr) c.2864G>C (p.Ser955Thr) c.*2792G>C (n.*2792G>C) c.2106+182201G>C (n.2106+182201G>C) c.514G>C n.573G>C | |
3 | g.184326908G>T | CA355413132 | EIF2B5,EIF4G1 | c.3353G>T (p.Ser1118Ile) c.3287G>T (p.Ser1096Ile) c.2700G>T (n.2700G>T) c.2759G>T (p.Ser920Ile) c.3356G>T (p.Ser1119Ile) c.2861G>T (p.Ser954Ile) c.3374G>T (p.Ser1125Ile) c.3092G>T (p.Ser1031Ile) c.3236G>T (p.Ser1079Ile) c.3233G>T (p.Ser1078Ile) c.3095G>T (p.Ser1032Ile) c.2768G>T (p.Ser923Ile) c.2765G>T (p.Ser922Ile) c.2864G>T (p.Ser955Ile) c.*2792G>T (n.*2792G>T) c.2106+182201G>T (n.2106+182201G>T) c.514G>T n.573G>T | |
3 | g.184326909T>A | CA355413134 | EIF2B5,EIF4G1 | c.3354T>A (p.Ser1118Arg) c.3288T>A (p.Ser1096Arg) c.2701T>A (n.2701T>A) c.2760T>A (p.Ser920Arg) c.3357T>A (p.Ser1119Arg) c.2862T>A (p.Ser954Arg) c.3375T>A (p.Ser1125Arg) c.3093T>A (p.Ser1031Arg) c.3237T>A (p.Ser1079Arg) c.3234T>A (p.Ser1078Arg) c.3096T>A (p.Ser1032Arg) c.2769T>A (p.Ser923Arg) c.2766T>A (p.Ser922Arg) c.2865T>A (p.Ser955Arg) c.*2793T>A (n.*2793T>A) c.2106+182202T>A (n.2106+182202T>A) c.515T>A | dbSNP |
3 | g.184326909T>C | CA437162094 | EIF2B5,EIF4G1 | c.3354T>C (p.Ser1118=) c.3288T>C (p.Ser1096=) c.2701T>C (n.2701T>C) c.2760T>C (p.Ser920=) c.3357T>C (p.Ser1119=) c.2862T>C (p.Ser954=) c.3375T>C (p.Ser1125=) c.3093T>C (p.Ser1031=) c.3237T>C (p.Ser1079=) c.3234T>C (p.Ser1078=) c.3096T>C (p.Ser1032=) c.2769T>C (p.Ser923=) c.2766T>C (p.Ser922=) c.2865T>C (p.Ser955=) c.*2793T>C (n.*2793T>C) c.2106+182202T>C (n.2106+182202T>C) c.515T>C | dbSNP |
3 | g.184326909T>G | CA355413139 | EIF2B5,EIF4G1 | c.3354T>G (p.Ser1118Arg) c.3288T>G (p.Ser1096Arg) c.2701T>G (n.2701T>G) c.2760T>G (p.Ser920Arg) c.3357T>G (p.Ser1119Arg) c.2862T>G (p.Ser954Arg) c.3375T>G (p.Ser1125Arg) c.3093T>G (p.Ser1031Arg) c.3237T>G (p.Ser1079Arg) c.3234T>G (p.Ser1078Arg) c.3096T>G (p.Ser1032Arg) c.2769T>G (p.Ser923Arg) c.2766T>G (p.Ser922Arg) c.2865T>G (p.Ser955Arg) c.*2793T>G (n.*2793T>G) c.2106+182202T>G (n.2106+182202T>G) c.515T>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184326909T= | CA1425957777 | EIF2B5,EIF4G1 | c.3354T= (p.Ser1118=) c.3288T= (p.Ser1096=) c.2701T= (n.2701T=) c.2760T= (p.Ser920=) c.3357T= (p.Ser1119=) c.2862T= (p.Ser954=) c.3375T= (p.Ser1125=) c.3093T= (p.Ser1031=) c.3237T= (p.Ser1079=) c.3234T= (p.Ser1078=) c.3096T= (p.Ser1032=) c.2769T= (p.Ser923=) c.2766T= (p.Ser922=) c.2865T= (p.Ser955=) c.*2793T= (n.*2793T=) c.2106+182202T= (n.2106+182202T=) c.515T= | |
3 | g.184326910A>C | CA355413150 | EIF2B5,EIF4G1 | c.3355A>C (p.Thr1119Pro) c.3289A>C (p.Thr1097Pro) c.2702A>C (n.2702A>C) c.2761A>C (p.Thr921Pro) c.3358A>C (p.Thr1120Pro) c.2863A>C (p.Thr955Pro) c.3376A>C (p.Thr1126Pro) c.3094A>C (p.Thr1032Pro) c.3238A>C (p.Thr1080Pro) c.3235A>C (p.Thr1079Pro) c.3097A>C (p.Thr1033Pro) c.2770A>C (p.Thr924Pro) c.2767A>C (p.Thr923Pro) c.2866A>C (p.Thr956Pro) c.*2794A>C (n.*2794A>C) c.2106+182203A>C (n.2106+182203A>C) c.516A>C | |
3 | g.184326910A>G | CA355413147 | EIF2B5,EIF4G1 | c.3355A>G (p.Thr1119Ala) c.3289A>G (p.Thr1097Ala) c.2702A>G (n.2702A>G) c.2761A>G (p.Thr921Ala) c.3358A>G (p.Thr1120Ala) c.2863A>G (p.Thr955Ala) c.3376A>G (p.Thr1126Ala) c.3094A>G (p.Thr1032Ala) c.3238A>G (p.Thr1080Ala) c.3235A>G (p.Thr1079Ala) c.3097A>G (p.Thr1033Ala) c.2770A>G (p.Thr924Ala) c.2767A>G (p.Thr923Ala) c.2866A>G (p.Thr956Ala) c.*2794A>G (n.*2794A>G) c.2106+182203A>G (n.2106+182203A>G) c.516A>G | |
3 | g.184326910A>T | CA355413143 | EIF2B5,EIF4G1 | c.3355A>T (p.Thr1119Ser) c.3289A>T (p.Thr1097Ser) c.2702A>T (n.2702A>T) c.2761A>T (p.Thr921Ser) c.3358A>T (p.Thr1120Ser) c.2863A>T (p.Thr955Ser) c.3376A>T (p.Thr1126Ser) c.3094A>T (p.Thr1032Ser) c.3238A>T (p.Thr1080Ser) c.3235A>T (p.Thr1079Ser) c.3097A>T (p.Thr1033Ser) c.2770A>T (p.Thr924Ser) c.2767A>T (p.Thr923Ser) c.2866A>T (p.Thr956Ser) c.*2794A>T (n.*2794A>T) c.2106+182203A>T (n.2106+182203A>T) c.516A>T | |
3 | g.184326911C>A | CA355413155 | EIF2B5,EIF4G1 | c.3356C>A (p.Thr1119Asn) c.3290C>A (p.Thr1097Asn) c.2703C>A (n.2703C>A) c.2762C>A (p.Thr921Asn) c.3359C>A (p.Thr1120Asn) c.2864C>A (p.Thr955Asn) c.3377C>A (p.Thr1126Asn) c.3095C>A (p.Thr1032Asn) c.3239C>A (p.Thr1080Asn) c.3236C>A (p.Thr1079Asn) c.3098C>A (p.Thr1033Asn) c.2771C>A (p.Thr924Asn) c.2768C>A (p.Thr923Asn) c.2867C>A (p.Thr956Asn) c.*2795C>A (n.*2795C>A) c.2106+182204C>A (n.2106+182204C>A) c.517C>A | |
3 | g.184326911C= | CA1425957780 | EIF2B5,EIF4G1 | c.3356C= (p.Thr1119=) c.3290C= (p.Thr1097=) c.2703C= (n.2703C=) c.2762C= (p.Thr921=) c.3359C= (p.Thr1120=) c.2864C= (p.Thr955=) c.3377C= (p.Thr1126=) c.3095C= (p.Thr1032=) c.3239C= (p.Thr1080=) c.3236C= (p.Thr1079=) c.3098C= (p.Thr1033=) c.2771C= (p.Thr924=) c.2768C= (p.Thr923=) c.2867C= (p.Thr956=) c.*2795C= (n.*2795C=) c.2106+182204C= (n.2106+182204C=) c.517C= | |
3 | g.184326911C>G | CA355413157 | EIF2B5,EIF4G1 | c.3356C>G (p.Thr1119Ser) c.3290C>G (p.Thr1097Ser) c.2703C>G (n.2703C>G) c.2762C>G (p.Thr921Ser) c.3359C>G (p.Thr1120Ser) c.2864C>G (p.Thr955Ser) c.3377C>G (p.Thr1126Ser) c.3095C>G (p.Thr1032Ser) c.3239C>G (p.Thr1080Ser) c.3236C>G (p.Thr1079Ser) c.3098C>G (p.Thr1033Ser) c.2771C>G (p.Thr924Ser) c.2768C>G (p.Thr923Ser) c.2867C>G (p.Thr956Ser) c.*2795C>G (n.*2795C>G) c.2106+182204C>G (n.2106+182204C>G) c.517C>G | |
3 | g.184326911C>T | CA2732771 | EIF2B5,EIF4G1 | c.3356C>T (p.Thr1119Ile) c.3290C>T (p.Thr1097Ile) c.2703C>T (n.2703C>T) c.2762C>T (p.Thr921Ile) c.3359C>T (p.Thr1120Ile) c.2864C>T (p.Thr955Ile) c.3377C>T (p.Thr1126Ile) c.3095C>T (p.Thr1032Ile) c.3239C>T (p.Thr1080Ile) c.3236C>T (p.Thr1079Ile) c.3098C>T (p.Thr1033Ile) c.2771C>T (p.Thr924Ile) c.2768C>T (p.Thr923Ile) c.2867C>T (p.Thr956Ile) c.*2795C>T (n.*2795C>T) c.2106+182204C>T (n.2106+182204C>T) c.517C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326912T>A | CA437162095 | EIF2B5,EIF4G1 | c.3357T>A (p.Thr1119=) c.3291T>A (p.Thr1097=) c.2704T>A (n.2704T>A) c.2763T>A (p.Thr921=) c.3360T>A (p.Thr1120=) c.2865T>A (p.Thr955=) c.3378T>A (p.Thr1126=) c.3096T>A (p.Thr1032=) c.3240T>A (p.Thr1080=) c.3237T>A (p.Thr1079=) c.3099T>A (p.Thr1033=) c.2772T>A (p.Thr924=) c.2769T>A (p.Thr923=) c.2868T>A (p.Thr956=) c.*2796T>A (n.*2796T>A) c.2106+182205T>A (n.2106+182205T>A) c.518T>A | |
3 | g.184326912T>C | CA437162096 | EIF2B5,EIF4G1 | c.3357T>C (p.Thr1119=) c.3291T>C (p.Thr1097=) c.2704T>C (n.2704T>C) c.2763T>C (p.Thr921=) c.3360T>C (p.Thr1120=) c.2865T>C (p.Thr955=) c.3378T>C (p.Thr1126=) c.3096T>C (p.Thr1032=) c.3240T>C (p.Thr1080=) c.3237T>C (p.Thr1079=) c.3099T>C (p.Thr1033=) c.2772T>C (p.Thr924=) c.2769T>C (p.Thr923=) c.2868T>C (p.Thr956=) c.*2796T>C (n.*2796T>C) c.2106+182205T>C (n.2106+182205T>C) c.518T>C | |
3 | g.184326912T>G | CA2732772 | EIF2B5,EIF4G1 | c.3357T>G (p.Thr1119=) c.3291T>G (p.Thr1097=) c.2704T>G (n.2704T>G) c.2763T>G (p.Thr921=) c.3360T>G (p.Thr1120=) c.2865T>G (p.Thr955=) c.3378T>G (p.Thr1126=) c.3096T>G (p.Thr1032=) c.3240T>G (p.Thr1080=) c.3237T>G (p.Thr1079=) c.3099T>G (p.Thr1033=) c.2772T>G (p.Thr924=) c.2769T>G (p.Thr923=) c.2868T>G (p.Thr956=) c.*2796T>G (n.*2796T>G) c.2106+182205T>G (n.2106+182205T>G) c.518T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184326912T= | CA1425957782 | EIF2B5,EIF4G1 | c.3357T= (p.Thr1119=) c.3291T= (p.Thr1097=) c.2704T= (n.2704T=) c.2763T= (p.Thr921=) c.3360T= (p.Thr1120=) c.2865T= (p.Thr955=) c.3378T= (p.Thr1126=) c.3096T= (p.Thr1032=) c.3240T= (p.Thr1080=) c.3237T= (p.Thr1079=) c.3099T= (p.Thr1033=) c.2772T= (p.Thr924=) c.2769T= (p.Thr923=) c.2868T= (p.Thr956=) c.*2796T= (n.*2796T=) c.2106+182205T= (n.2106+182205T=) c.518T= | |
3 | g.184326913T>A | CA355413166 | EIF2B5,EIF4G1 | c.3358T>A (p.Leu1120Met) c.3292T>A (p.Leu1098Met) c.2705T>A (n.2705T>A) c.2764T>A (p.Leu922Met) c.3361T>A (p.Leu1121Met) c.2866T>A (p.Leu956Met) c.3379T>A (p.Leu1127Met) c.3097T>A (p.Leu1033Met) c.3241T>A (p.Leu1081Met) c.3238T>A (p.Leu1080Met) c.3100T>A (p.Leu1034Met) c.2773T>A (p.Leu925Met) c.2770T>A (p.Leu924Met) c.2869T>A (p.Leu957Met) c.*2797T>A (n.*2797T>A) c.2106+182206T>A (n.2106+182206T>A) c.519T>A | |
3 | g.184326913T>C | CA437162097 | EIF2B5,EIF4G1 | c.3358T>C (p.Leu1120=) c.3292T>C (p.Leu1098=) c.2705T>C (n.2705T>C) c.2764T>C (p.Leu922=) c.3361T>C (p.Leu1121=) c.2866T>C (p.Leu956=) c.3379T>C (p.Leu1127=) c.3097T>C (p.Leu1033=) c.3241T>C (p.Leu1081=) c.3238T>C (p.Leu1080=) c.3100T>C (p.Leu1034=) c.2773T>C (p.Leu925=) c.2770T>C (p.Leu924=) c.2869T>C (p.Leu957=) c.*2797T>C (n.*2797T>C) c.2106+182206T>C (n.2106+182206T>C) c.519T>C | dbSNP |
3 | g.184326913T>G | CA355413169 | EIF2B5,EIF4G1 | c.3358T>G (p.Leu1120Val) c.3292T>G (p.Leu1098Val) c.2705T>G (n.2705T>G) c.2764T>G (p.Leu922Val) c.3361T>G (p.Leu1121Val) c.2866T>G (p.Leu956Val) c.3379T>G (p.Leu1127Val) c.3097T>G (p.Leu1033Val) c.3241T>G (p.Leu1081Val) c.3238T>G (p.Leu1080Val) c.3100T>G (p.Leu1034Val) c.2773T>G (p.Leu925Val) c.2770T>G (p.Leu924Val) c.2869T>G (p.Leu957Val) c.*2797T>G (n.*2797T>G) c.2106+182206T>G (n.2106+182206T>G) c.519T>G | |
3 | g.184326913T= | CA1425957784 | EIF2B5,EIF4G1 | c.3358T= (p.Leu1120=) c.3292T= (p.Leu1098=) c.2705T= (n.2705T=) c.2764T= (p.Leu922=) c.3361T= (p.Leu1121=) c.2866T= (p.Leu956=) c.3379T= (p.Leu1127=) c.3097T= (p.Leu1033=) c.3241T= (p.Leu1081=) c.3238T= (p.Leu1080=) c.3100T= (p.Leu1034=) c.2773T= (p.Leu925=) c.2770T= (p.Leu924=) c.2869T= (p.Leu957=) c.*2797T= (n.*2797T=) c.2106+182206T= (n.2106+182206T=) c.519T= | |
3 | g.184326914T>A | CA355413175 | EIF2B5,EIF4G1 | c.3359T>A (p.Leu1120Ter) c.3293T>A (p.Leu1098Ter) c.2706T>A (n.2706T>A) c.2765T>A (p.Leu922Ter) c.3362T>A (p.Leu1121Ter) c.2867T>A (p.Leu956Ter) c.3380T>A (p.Leu1127Ter) c.3098T>A (p.Leu1033Ter) c.3242T>A (p.Leu1081Ter) c.3239T>A (p.Leu1080Ter) c.3101T>A (p.Leu1034Ter) c.2774T>A (p.Leu925Ter) c.2771T>A (p.Leu924Ter) c.2870T>A (p.Leu957Ter) c.*2798T>A (n.*2798T>A) c.2106+182207T>A (n.2106+182207T>A) c.520T>A | |
3 | g.184326914T>C | CA355413181 | EIF2B5,EIF4G1 | c.3359T>C (p.Leu1120Ser) c.3293T>C (p.Leu1098Ser) c.2706T>C (n.2706T>C) c.2765T>C (p.Leu922Ser) c.3362T>C (p.Leu1121Ser) c.2867T>C (p.Leu956Ser) c.3380T>C (p.Leu1127Ser) c.3098T>C (p.Leu1033Ser) c.3242T>C (p.Leu1081Ser) c.3239T>C (p.Leu1080Ser) c.3101T>C (p.Leu1034Ser) c.2774T>C (p.Leu925Ser) c.2771T>C (p.Leu924Ser) c.2870T>C (p.Leu957Ser) c.*2798T>C (n.*2798T>C) c.2106+182207T>C (n.2106+182207T>C) c.520T>C | |
3 | g.184326914T>G | CA2732773 | EIF2B5,EIF4G1 | c.3359T>G (p.Leu1120Trp) c.3293T>G (p.Leu1098Trp) c.2706T>G (n.2706T>G) c.2765T>G (p.Leu922Trp) c.3362T>G (p.Leu1121Trp) c.2867T>G (p.Leu956Trp) c.3380T>G (p.Leu1127Trp) c.3098T>G (p.Leu1033Trp) c.3242T>G (p.Leu1081Trp) c.3239T>G (p.Leu1080Trp) c.3101T>G (p.Leu1034Trp) c.2774T>G (p.Leu925Trp) c.2771T>G (p.Leu924Trp) c.2870T>G (p.Leu957Trp) c.*2798T>G (n.*2798T>G) c.2106+182207T>G (n.2106+182207T>G) c.520T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184326914T= | CA1425957786 | EIF2B5,EIF4G1 | c.3359T= (p.Leu1120=) c.3293T= (p.Leu1098=) c.2706T= (n.2706T=) c.2765T= (p.Leu922=) c.3362T= (p.Leu1121=) c.2867T= (p.Leu956=) c.3380T= (p.Leu1127=) c.3098T= (p.Leu1033=) c.3242T= (p.Leu1081=) c.3239T= (p.Leu1080=) c.3101T= (p.Leu1034=) c.2774T= (p.Leu925=) c.2771T= (p.Leu924=) c.2870T= (p.Leu957=) c.*2798T= (n.*2798T=) c.2106+182207T= (n.2106+182207T=) c.520T= | |
3 | g.184326915G>A | CA437162099 | EIF2B5,EIF4G1 | c.3360G>A (p.Leu1120=) c.3294G>A (p.Leu1098=) c.2707G>A (n.2707G>A) c.2766G>A (p.Leu922=) c.3363G>A (p.Leu1121=) c.2868G>A (p.Leu956=) c.3381G>A (p.Leu1127=) c.3099G>A (p.Leu1033=) c.3243G>A (p.Leu1081=) c.3240G>A (p.Leu1080=) c.3102G>A (p.Leu1034=) c.2775G>A (p.Leu925=) c.2772G>A (p.Leu924=) c.2871G>A (p.Leu957=) c.*2799G>A (n.*2799G>A) c.2106+182208G>A (n.2106+182208G>A) c.521G>A | |
3 | g.184326915G>C | CA355413184 | EIF2B5,EIF4G1 | c.3360G>C (p.Leu1120Phe) c.3294G>C (p.Leu1098Phe) c.2707G>C (n.2707G>C) c.2766G>C (p.Leu922Phe) c.3363G>C (p.Leu1121Phe) c.2868G>C (p.Leu956Phe) c.3381G>C (p.Leu1127Phe) c.3099G>C (p.Leu1033Phe) c.3243G>C (p.Leu1081Phe) c.3240G>C (p.Leu1080Phe) c.3102G>C (p.Leu1034Phe) c.2775G>C (p.Leu925Phe) c.2772G>C (p.Leu924Phe) c.2871G>C (p.Leu957Phe) c.*2799G>C (n.*2799G>C) c.2106+182208G>C (n.2106+182208G>C) c.521G>C | |
3 | g.184326915G>T | CA355413187 | EIF2B5,EIF4G1 | c.3360G>T (p.Leu1120Phe) c.3294G>T (p.Leu1098Phe) c.2707G>T (n.2707G>T) c.2766G>T (p.Leu922Phe) c.3363G>T (p.Leu1121Phe) c.2868G>T (p.Leu956Phe) c.3381G>T (p.Leu1127Phe) c.3099G>T (p.Leu1033Phe) c.3243G>T (p.Leu1081Phe) c.3240G>T (p.Leu1080Phe) c.3102G>T (p.Leu1034Phe) c.2775G>T (p.Leu925Phe) c.2772G>T (p.Leu924Phe) c.2871G>T (p.Leu957Phe) c.*2799G>T (n.*2799G>T) c.2106+182208G>T (n.2106+182208G>T) c.521G>T | |
3 | g.184326916A>C | CA355413191 | EIF2B5,EIF4G1 | c.3361A>C (p.Asn1121His) c.3295A>C (p.Asn1099His) c.2708A>C (n.2708A>C) c.2767A>C (p.Asn923His) c.3364A>C (p.Asn1122His) c.2869A>C (p.Asn957His) c.3382A>C (p.Asn1128His) c.3100A>C (p.Asn1034His) c.3244A>C (p.Asn1082His) c.3241A>C (p.Asn1081His) c.3103A>C (p.Asn1035His) c.2776A>C (p.Asn926His) c.2773A>C (p.Asn925His) c.2872A>C (p.Asn958His) c.*2800A>C (n.*2800A>C) c.2106+182209A>C (n.2106+182209A>C) c.522A>C | |
3 | g.184326916A>G | CA355413192 | EIF2B5,EIF4G1 | c.3361A>G (p.Asn1121Asp) c.3295A>G (p.Asn1099Asp) c.2708A>G (n.2708A>G) c.2767A>G (p.Asn923Asp) c.3364A>G (p.Asn1122Asp) c.2869A>G (p.Asn957Asp) c.3382A>G (p.Asn1128Asp) c.3100A>G (p.Asn1034Asp) c.3244A>G (p.Asn1082Asp) c.3241A>G (p.Asn1081Asp) c.3103A>G (p.Asn1035Asp) c.2776A>G (p.Asn926Asp) c.2773A>G (p.Asn925Asp) c.2872A>G (p.Asn958Asp) c.*2800A>G (n.*2800A>G) c.2106+182209A>G (n.2106+182209A>G) c.522A>G | |
3 | g.184326916A>T | CA355413193 | EIF2B5,EIF4G1 | c.3361A>T (p.Asn1121Tyr) c.3295A>T (p.Asn1099Tyr) c.2708A>T (n.2708A>T) c.2767A>T (p.Asn923Tyr) c.3364A>T (p.Asn1122Tyr) c.2869A>T (p.Asn957Tyr) c.3382A>T (p.Asn1128Tyr) c.3100A>T (p.Asn1034Tyr) c.3244A>T (p.Asn1082Tyr) c.3241A>T (p.Asn1081Tyr) c.3103A>T (p.Asn1035Tyr) c.2776A>T (p.Asn926Tyr) c.2773A>T (p.Asn925Tyr) c.2872A>T (p.Asn958Tyr) c.*2800A>T (n.*2800A>T) c.2106+182209A>T (n.2106+182209A>T) c.522A>T | |
3 | g.184326917A>C | CA355413196 | EIF2B5,EIF4G1 | c.3362A>C (p.Asn1121Thr) c.3296A>C (p.Asn1099Thr) c.2709A>C (n.2709A>C) c.2768A>C (p.Asn923Thr) c.3365A>C (p.Asn1122Thr) c.2870A>C (p.Asn957Thr) c.3383A>C (p.Asn1128Thr) c.3101A>C (p.Asn1034Thr) c.3245A>C (p.Asn1082Thr) c.3242A>C (p.Asn1081Thr) c.3104A>C (p.Asn1035Thr) c.2777A>C (p.Asn926Thr) c.2774A>C (p.Asn925Thr) c.2873A>C (p.Asn958Thr) c.*2801A>C (n.*2801A>C) c.2106+182210A>C (n.2106+182210A>C) c.523A>C | |
3 | g.184326917A>G | CA355413198 | EIF2B5,EIF4G1 | c.3362A>G (p.Asn1121Ser) c.3296A>G (p.Asn1099Ser) c.2709A>G (n.2709A>G) c.2768A>G (p.Asn923Ser) c.3365A>G (p.Asn1122Ser) c.2870A>G (p.Asn957Ser) c.3383A>G (p.Asn1128Ser) c.3101A>G (p.Asn1034Ser) c.3245A>G (p.Asn1082Ser) c.3242A>G (p.Asn1081Ser) c.3104A>G (p.Asn1035Ser) c.2777A>G (p.Asn926Ser) c.2774A>G (p.Asn925Ser) c.2873A>G (p.Asn958Ser) c.*2801A>G (n.*2801A>G) c.2106+182210A>G (n.2106+182210A>G) c.523A>G | |
3 | g.184326917A>T | CA355413201 | EIF2B5,EIF4G1 | c.3362A>T (p.Asn1121Ile) c.3296A>T (p.Asn1099Ile) c.2709A>T (n.2709A>T) c.2768A>T (p.Asn923Ile) c.3365A>T (p.Asn1122Ile) c.2870A>T (p.Asn957Ile) c.3383A>T (p.Asn1128Ile) c.3101A>T (p.Asn1034Ile) c.3245A>T (p.Asn1082Ile) c.3242A>T (p.Asn1081Ile) c.3104A>T (p.Asn1035Ile) c.2777A>T (p.Asn926Ile) c.2774A>T (p.Asn925Ile) c.2873A>T (p.Asn958Ile) c.*2801A>T (n.*2801A>T) c.2106+182210A>T (n.2106+182210A>T) c.523A>T | |
3 | g.184326918T>A | CA355413205 | EIF2B5,EIF4G1 | c.3363T>A (p.Asn1121Lys) c.3297T>A (p.Asn1099Lys) c.2710T>A (n.2710T>A) c.2769T>A (p.Asn923Lys) c.3366T>A (p.Asn1122Lys) c.2871T>A (p.Asn957Lys) c.3384T>A (p.Asn1128Lys) c.3102T>A (p.Asn1034Lys) c.3246T>A (p.Asn1082Lys) c.3243T>A (p.Asn1081Lys) c.3105T>A (p.Asn1035Lys) c.2778T>A (p.Asn926Lys) c.2775T>A (p.Asn925Lys) c.2874T>A (p.Asn958Lys) c.*2802T>A (n.*2802T>A) c.2106+182211T>A (n.2106+182211T>A) c.524T>A | |
3 | g.184326918T>C | CA437162100 | EIF2B5,EIF4G1 | c.3363T>C (p.Asn1121=) c.3297T>C (p.Asn1099=) c.2710T>C (n.2710T>C) c.2769T>C (p.Asn923=) c.3366T>C (p.Asn1122=) c.2871T>C (p.Asn957=) c.3384T>C (p.Asn1128=) c.3102T>C (p.Asn1034=) c.3246T>C (p.Asn1082=) c.3243T>C (p.Asn1081=) c.3105T>C (p.Asn1035=) c.2778T>C (p.Asn926=) c.2775T>C (p.Asn925=) c.2874T>C (p.Asn958=) c.*2802T>C (n.*2802T>C) c.2106+182211T>C (n.2106+182211T>C) c.524T>C | |
3 | g.184326918T>G | CA355413208 | EIF2B5,EIF4G1 | c.3363T>G (p.Asn1121Lys) c.3297T>G (p.Asn1099Lys) c.2710T>G (n.2710T>G) c.2769T>G (p.Asn923Lys) c.3366T>G (p.Asn1122Lys) c.2871T>G (p.Asn957Lys) c.3384T>G (p.Asn1128Lys) c.3102T>G (p.Asn1034Lys) c.3246T>G (p.Asn1082Lys) c.3243T>G (p.Asn1081Lys) c.3105T>G (p.Asn1035Lys) c.2778T>G (p.Asn926Lys) c.2775T>G (p.Asn925Lys) c.2874T>G (p.Asn958Lys) c.*2802T>G (n.*2802T>G) c.2106+182211T>G (n.2106+182211T>G) c.524T>G | |
3 | g.184326919C>A | CA355413214 | EIF2B5,EIF4G1 | c.3364C>A (p.Arg1122Ser) c.3298C>A (p.Arg1100Ser) c.2711C>A (n.2711C>A) c.2770C>A (p.Arg924Ser) c.3367C>A (p.Arg1123Ser) c.2872C>A (p.Arg958Ser) c.3385C>A (p.Arg1129Ser) c.3103C>A (p.Arg1035Ser) c.3247C>A (p.Arg1083Ser) c.3244C>A (p.Arg1082Ser) c.3106C>A (p.Arg1036Ser) c.2779C>A (p.Arg927Ser) c.2776C>A (p.Arg926Ser) c.2875C>A (p.Arg959Ser) c.*2803C>A (n.*2803C>A) c.2106+182212C>A (n.2106+182212C>A) c.525C>A | |
3 | g.184326919C= | CA1425957789 | EIF2B5,EIF4G1 | c.3364C= (p.Arg1122=) c.3298C= (p.Arg1100=) c.2711C= (n.2711C=) c.2770C= (p.Arg924=) c.3367C= (p.Arg1123=) c.2872C= (p.Arg958=) c.3385C= (p.Arg1129=) c.3103C= (p.Arg1035=) c.3247C= (p.Arg1083=) c.3244C= (p.Arg1082=) c.3106C= (p.Arg1036=) c.2779C= (p.Arg927=) c.2776C= (p.Arg926=) c.2875C= (p.Arg959=) c.*2803C= (n.*2803C=) c.2106+182212C= (n.2106+182212C=) c.525C= | |
3 | g.184326919C>G | CA355413216 | EIF2B5,EIF4G1 | c.3364C>G (p.Arg1122Gly) c.3298C>G (p.Arg1100Gly) c.2711C>G (n.2711C>G) c.2770C>G (p.Arg924Gly) c.3367C>G (p.Arg1123Gly) c.2872C>G (p.Arg958Gly) c.3385C>G (p.Arg1129Gly) c.3103C>G (p.Arg1035Gly) c.3247C>G (p.Arg1083Gly) c.3244C>G (p.Arg1082Gly) c.3106C>G (p.Arg1036Gly) c.2779C>G (p.Arg927Gly) c.2776C>G (p.Arg926Gly) c.2875C>G (p.Arg959Gly) c.*2803C>G (n.*2803C>G) c.2106+182212C>G (n.2106+182212C>G) c.525C>G | |
3 | g.184326919C>T | CA355413219 | EIF2B5,EIF4G1 | c.3364C>T (p.Arg1122Cys) c.3298C>T (p.Arg1100Cys) c.2711C>T (n.2711C>T) c.2770C>T (p.Arg924Cys) c.3367C>T (p.Arg1123Cys) c.2872C>T (p.Arg958Cys) c.3385C>T (p.Arg1129Cys) c.3103C>T (p.Arg1035Cys) c.3247C>T (p.Arg1083Cys) c.3244C>T (p.Arg1082Cys) c.3106C>T (p.Arg1036Cys) c.2779C>T (p.Arg927Cys) c.2776C>T (p.Arg926Cys) c.2875C>T (p.Arg959Cys) c.*2803C>T (n.*2803C>T) c.2106+182212C>T (n.2106+182212C>T) c.525C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184326920G>A | CA355413226 | EIF2B5,EIF4G1 | c.3365G>A (p.Arg1122His) c.3299G>A (p.Arg1100His) c.2712G>A (n.2712G>A) c.2771G>A (p.Arg924His) c.3368G>A (p.Arg1123His) c.2873G>A (p.Arg958His) c.3386G>A (p.Arg1129His) c.3104G>A (p.Arg1035His) c.3248G>A (p.Arg1083His) c.3245G>A (p.Arg1082His) c.3107G>A (p.Arg1036His) c.2780G>A (p.Arg927His) c.2777G>A (p.Arg926His) c.2876G>A (p.Arg959His) c.*2804G>A (n.*2804G>A) c.2106+182213G>A (n.2106+182213G>A) c.526G>A | gnomAD v4 |
3 | g.184326920G>C | CA355413227 | EIF2B5,EIF4G1 | c.3365G>C (p.Arg1122Pro) c.3299G>C (p.Arg1100Pro) c.2712G>C (n.2712G>C) c.2771G>C (p.Arg924Pro) c.3368G>C (p.Arg1123Pro) c.2873G>C (p.Arg958Pro) c.3386G>C (p.Arg1129Pro) c.3104G>C (p.Arg1035Pro) c.3248G>C (p.Arg1083Pro) c.3245G>C (p.Arg1082Pro) c.3107G>C (p.Arg1036Pro) c.2780G>C (p.Arg927Pro) c.2777G>C (p.Arg926Pro) c.2876G>C (p.Arg959Pro) c.*2804G>C (n.*2804G>C) c.2106+182213G>C (n.2106+182213G>C) c.526G>C | |
3 | g.184326920G>T | CA355413223 | EIF2B5,EIF4G1 | c.3365G>T (p.Arg1122Leu) c.3299G>T (p.Arg1100Leu) c.2712G>T (n.2712G>T) c.2771G>T (p.Arg924Leu) c.3368G>T (p.Arg1123Leu) c.2873G>T (p.Arg958Leu) c.3386G>T (p.Arg1129Leu) c.3104G>T (p.Arg1035Leu) c.3248G>T (p.Arg1083Leu) c.3245G>T (p.Arg1082Leu) c.3107G>T (p.Arg1036Leu) c.2780G>T (p.Arg927Leu) c.2777G>T (p.Arg926Leu) c.2876G>T (p.Arg959Leu) c.*2804G>T (n.*2804G>T) c.2106+182213G>T (n.2106+182213G>T) c.526G>T | |
3 | g.184326921C>A | CA437162101 | EIF2B5,EIF4G1 | c.3366C>A (p.Arg1122=) c.3300C>A (p.Arg1100=) c.2713C>A (n.2713C>A) c.2772C>A (p.Arg924=) c.3369C>A (p.Arg1123=) c.2874C>A (p.Arg958=) c.3387C>A (p.Arg1129=) c.3105C>A (p.Arg1035=) c.3249C>A (p.Arg1083=) c.3246C>A (p.Arg1082=) c.3108C>A (p.Arg1036=) c.2781C>A (p.Arg927=) c.2778C>A (p.Arg926=) c.2877C>A (p.Arg959=) c.*2805C>A (n.*2805C>A) c.2106+182214C>A (n.2106+182214C>A) c.527C>A | |
3 | g.184326921C>G | CA437162102 | EIF2B5,EIF4G1 | c.3366C>G (p.Arg1122=) c.3300C>G (p.Arg1100=) c.2713C>G (n.2713C>G) c.2772C>G (p.Arg924=) c.3369C>G (p.Arg1123=) c.2874C>G (p.Arg958=) c.3387C>G (p.Arg1129=) c.3105C>G (p.Arg1035=) c.3249C>G (p.Arg1083=) c.3246C>G (p.Arg1082=) c.3108C>G (p.Arg1036=) c.2781C>G (p.Arg927=) c.2778C>G (p.Arg926=) c.2877C>G (p.Arg959=) c.*2805C>G (n.*2805C>G) c.2106+182214C>G (n.2106+182214C>G) c.527C>G | |
3 | g.184326921C>T | CA437162103 | EIF2B5,EIF4G1 | c.3366C>T (p.Arg1122=) c.3300C>T (p.Arg1100=) c.2713C>T (n.2713C>T) c.2772C>T (p.Arg924=) c.3369C>T (p.Arg1123=) c.2874C>T (p.Arg958=) c.3387C>T (p.Arg1129=) c.3105C>T (p.Arg1035=) c.3249C>T (p.Arg1083=) c.3246C>T (p.Arg1082=) c.3108C>T (p.Arg1036=) c.2781C>T (p.Arg927=) c.2778C>T (p.Arg926=) c.2877C>T (p.Arg959=) c.*2805C>T (n.*2805C>T) c.2106+182214C>T (n.2106+182214C>T) c.527C>T | |
3 | g.184326922T>A | CA355413236 | EIF2B5,EIF4G1 | c.3367T>A (p.Phe1123Ile) c.3301T>A (p.Phe1101Ile) c.2714T>A (n.2714T>A) c.2773T>A (p.Phe925Ile) c.3370T>A (p.Phe1124Ile) c.2875T>A (p.Phe959Ile) c.3388T>A (p.Phe1130Ile) c.3106T>A (p.Phe1036Ile) c.3250T>A (p.Phe1084Ile) c.3247T>A (p.Phe1083Ile) c.3109T>A (p.Phe1037Ile) c.2782T>A (p.Phe928Ile) c.2779T>A (p.Phe927Ile) c.2878T>A (p.Phe960Ile) c.*2806T>A (n.*2806T>A) c.2106+182215T>A (n.2106+182215T>A) c.528T>A | |
3 | g.184326922T>C | CA355413230 | EIF2B5,EIF4G1 | c.3367T>C (p.Phe1123Leu) c.3301T>C (p.Phe1101Leu) c.2714T>C (n.2714T>C) c.2773T>C (p.Phe925Leu) c.3370T>C (p.Phe1124Leu) c.2875T>C (p.Phe959Leu) c.3388T>C (p.Phe1130Leu) c.3106T>C (p.Phe1036Leu) c.3250T>C (p.Phe1084Leu) c.3247T>C (p.Phe1083Leu) c.3109T>C (p.Phe1037Leu) c.2782T>C (p.Phe928Leu) c.2779T>C (p.Phe927Leu) c.2878T>C (p.Phe960Leu) c.*2806T>C (n.*2806T>C) c.2106+182215T>C (n.2106+182215T>C) c.528T>C | gnomAD v4 |
3 | g.184326922T>G | CA355413238 | EIF2B5,EIF4G1 | c.3367T>G (p.Phe1123Val) c.3301T>G (p.Phe1101Val) c.2714T>G (n.2714T>G) c.2773T>G (p.Phe925Val) c.3370T>G (p.Phe1124Val) c.2875T>G (p.Phe959Val) c.3388T>G (p.Phe1130Val) c.3106T>G (p.Phe1036Val) c.3250T>G (p.Phe1084Val) c.3247T>G (p.Phe1083Val) c.3109T>G (p.Phe1037Val) c.2782T>G (p.Phe928Val) c.2779T>G (p.Phe927Val) c.2878T>G (p.Phe960Val) c.*2806T>G (n.*2806T>G) c.2106+182215T>G (n.2106+182215T>G) c.528T>G | |
3 | g.184326923T>A | CA355413244 | EIF2B5,EIF4G1 | c.3368T>A (p.Phe1123Tyr) c.3302T>A (p.Phe1101Tyr) c.2715T>A (n.2715T>A) c.2774T>A (p.Phe925Tyr) c.3371T>A (p.Phe1124Tyr) c.2876T>A (p.Phe959Tyr) c.3389T>A (p.Phe1130Tyr) c.3107T>A (p.Phe1036Tyr) c.3251T>A (p.Phe1084Tyr) c.3248T>A (p.Phe1083Tyr) c.3110T>A (p.Phe1037Tyr) c.2783T>A (p.Phe928Tyr) c.2780T>A (p.Phe927Tyr) c.2879T>A (p.Phe960Tyr) c.*2807T>A (n.*2807T>A) c.2106+182216T>A (n.2106+182216T>A) c.529T>A | |
3 | g.184326923T>C | CA355413247 | EIF2B5,EIF4G1 | c.3368T>C (p.Phe1123Ser) c.3302T>C (p.Phe1101Ser) c.2715T>C (n.2715T>C) c.2774T>C (p.Phe925Ser) c.3371T>C (p.Phe1124Ser) c.2876T>C (p.Phe959Ser) c.3389T>C (p.Phe1130Ser) c.3107T>C (p.Phe1036Ser) c.3251T>C (p.Phe1084Ser) c.3248T>C (p.Phe1083Ser) c.3110T>C (p.Phe1037Ser) c.2783T>C (p.Phe928Ser) c.2780T>C (p.Phe927Ser) c.2879T>C (p.Phe960Ser) c.*2807T>C (n.*2807T>C) c.2106+182216T>C (n.2106+182216T>C) c.529T>C | |
3 | g.184326923T>G | CA355413250 | EIF2B5,EIF4G1 | c.3368T>G (p.Phe1123Cys) c.3302T>G (p.Phe1101Cys) c.2715T>G (n.2715T>G) c.2774T>G (p.Phe925Cys) c.3371T>G (p.Phe1124Cys) c.2876T>G (p.Phe959Cys) c.3389T>G (p.Phe1130Cys) c.3107T>G (p.Phe1036Cys) c.3251T>G (p.Phe1084Cys) c.3248T>G (p.Phe1083Cys) c.3110T>G (p.Phe1037Cys) c.2783T>G (p.Phe928Cys) c.2780T>G (p.Phe927Cys) c.2879T>G (p.Phe960Cys) c.*2807T>G (n.*2807T>G) c.2106+182216T>G (n.2106+182216T>G) c.529T>G | |
3 | g.184326924C>A | CA355413254 | EIF2B5,EIF4G1 | c.3369C>A (p.Phe1123Leu) c.3303C>A (p.Phe1101Leu) c.2716C>A (n.2716C>A) c.2775C>A (p.Phe925Leu) c.3372C>A (p.Phe1124Leu) c.2877C>A (p.Phe959Leu) c.3390C>A (p.Phe1130Leu) c.3108C>A (p.Phe1036Leu) c.3252C>A (p.Phe1084Leu) c.3249C>A (p.Phe1083Leu) c.3111C>A (p.Phe1037Leu) c.2784C>A (p.Phe928Leu) c.2781C>A (p.Phe927Leu) c.2880C>A (p.Phe960Leu) c.*2808C>A (n.*2808C>A) c.2106+182217C>A (n.2106+182217C>A) c.530C>A | |
3 | g.184326924C>G | CA355413256 | EIF2B5,EIF4G1 | c.3369C>G (p.Phe1123Leu) c.3303C>G (p.Phe1101Leu) c.2716C>G (n.2716C>G) c.2775C>G (p.Phe925Leu) c.3372C>G (p.Phe1124Leu) c.2877C>G (p.Phe959Leu) c.3390C>G (p.Phe1130Leu) c.3108C>G (p.Phe1036Leu) c.3252C>G (p.Phe1084Leu) c.3249C>G (p.Phe1083Leu) c.3111C>G (p.Phe1037Leu) c.2784C>G (p.Phe928Leu) c.2781C>G (p.Phe927Leu) c.2880C>G (p.Phe960Leu) c.*2808C>G (n.*2808C>G) c.2106+182217C>G (n.2106+182217C>G) c.530C>G | |
3 | g.184326924C>T | CA437162104 | EIF2B5,EIF4G1 | c.3369C>T (p.Phe1123=) c.3303C>T (p.Phe1101=) c.2716C>T (n.2716C>T) c.2775C>T (p.Phe925=) c.3372C>T (p.Phe1124=) c.2877C>T (p.Phe959=) c.3390C>T (p.Phe1130=) c.3108C>T (p.Phe1036=) c.3252C>T (p.Phe1084=) c.3249C>T (p.Phe1083=) c.3111C>T (p.Phe1037=) c.2784C>T (p.Phe928=) c.2781C>T (p.Phe927=) c.2880C>T (p.Phe960=) c.*2808C>T (n.*2808C>T) c.2106+182217C>T (n.2106+182217C>T) c.530C>T | |
3 | g.184326925T>A | CA355413261 | EIF2B5,EIF4G1 | c.3370T>A (p.Ser1124Thr) c.3304T>A (p.Ser1102Thr) c.2717T>A (n.2717T>A) c.2776T>A (p.Ser926Thr) c.3373T>A (p.Ser1125Thr) c.2878T>A (p.Ser960Thr) c.3391T>A (p.Ser1131Thr) c.3109T>A (p.Ser1037Thr) c.3253T>A (p.Ser1085Thr) c.3250T>A (p.Ser1084Thr) c.3112T>A (p.Ser1038Thr) c.2785T>A (p.Ser929Thr) c.2782T>A (p.Ser928Thr) c.2881T>A (p.Ser961Thr) c.*2809T>A (n.*2809T>A) c.2106+182218T>A (n.2106+182218T>A) c.531T>A | |
3 | g.184326925T>C | CA355413262 | EIF2B5,EIF4G1 | c.3370T>C (p.Ser1124Pro) c.3304T>C (p.Ser1102Pro) c.2717T>C (n.2717T>C) c.2776T>C (p.Ser926Pro) c.3373T>C (p.Ser1125Pro) c.2878T>C (p.Ser960Pro) c.3391T>C (p.Ser1131Pro) c.3109T>C (p.Ser1037Pro) c.3253T>C (p.Ser1085Pro) c.3250T>C (p.Ser1084Pro) c.3112T>C (p.Ser1038Pro) c.2785T>C (p.Ser929Pro) c.2782T>C (p.Ser928Pro) c.2881T>C (p.Ser961Pro) c.*2809T>C (n.*2809T>C) c.2106+182218T>C (n.2106+182218T>C) c.531T>C | |
3 | g.184326925T>G | CA355413265 | EIF2B5,EIF4G1 | c.3370T>G (p.Ser1124Ala) c.3304T>G (p.Ser1102Ala) c.2717T>G (n.2717T>G) c.2776T>G (p.Ser926Ala) c.3373T>G (p.Ser1125Ala) c.2878T>G (p.Ser960Ala) c.3391T>G (p.Ser1131Ala) c.3109T>G (p.Ser1037Ala) c.3253T>G (p.Ser1085Ala) c.3250T>G (p.Ser1084Ala) c.3112T>G (p.Ser1038Ala) c.2785T>G (p.Ser929Ala) c.2782T>G (p.Ser928Ala) c.2881T>G (p.Ser961Ala) c.*2809T>G (n.*2809T>G) c.2106+182218T>G (n.2106+182218T>G) c.531T>G | |
3 | g.184326926C>A | CA355413270 | EIF2B5,EIF4G1 | c.3371C>A (p.Ser1124Ter) c.3305C>A (p.Ser1102Ter) c.2718C>A (n.2718C>A) c.2777C>A (p.Ser926Ter) c.3374C>A (p.Ser1125Ter) c.2879C>A (p.Ser960Ter) c.3392C>A (p.Ser1131Ter) c.3110C>A (p.Ser1037Ter) c.3254C>A (p.Ser1085Ter) c.3251C>A (p.Ser1084Ter) c.3113C>A (p.Ser1038Ter) c.2786C>A (p.Ser929Ter) c.2783C>A (p.Ser928Ter) c.2882C>A (p.Ser961Ter) c.*2810C>A (n.*2810C>A) c.2106+182219C>A (n.2106+182219C>A) c.532C>A | |
3 | g.184326926C= | CA1425957791 | EIF2B5,EIF4G1 | c.3371C= (p.Ser1124=) c.3305C= (p.Ser1102=) c.2718C= (n.2718C=) c.2777C= (p.Ser926=) c.3374C= (p.Ser1125=) c.2879C= (p.Ser960=) c.3392C= (p.Ser1131=) c.3110C= (p.Ser1037=) c.3254C= (p.Ser1085=) c.3251C= (p.Ser1084=) c.3113C= (p.Ser1038=) c.2786C= (p.Ser929=) c.2783C= (p.Ser928=) c.2882C= (p.Ser961=) c.*2810C= (n.*2810C=) c.2106+182219C= (n.2106+182219C=) c.532C= | |
3 | g.184326926C>G | CA355413273 | EIF2B5,EIF4G1 | c.3371C>G (p.Ser1124Ter) c.3305C>G (p.Ser1102Ter) c.2718C>G (n.2718C>G) c.2777C>G (p.Ser926Ter) c.3374C>G (p.Ser1125Ter) c.2879C>G (p.Ser960Ter) c.3392C>G (p.Ser1131Ter) c.3110C>G (p.Ser1037Ter) c.3254C>G (p.Ser1085Ter) c.3251C>G (p.Ser1084Ter) c.3113C>G (p.Ser1038Ter) c.2786C>G (p.Ser929Ter) c.2783C>G (p.Ser928Ter) c.2882C>G (p.Ser961Ter) c.*2810C>G (n.*2810C>G) c.2106+182219C>G (n.2106+182219C>G) c.532C>G | COSMIC |
3 | g.184326926C>T | CA355413274 | EIF2B5,EIF4G1 | c.3371C>T (p.Ser1124Leu) c.3305C>T (p.Ser1102Leu) c.2718C>T (n.2718C>T) c.2777C>T (p.Ser926Leu) c.3374C>T (p.Ser1125Leu) c.2879C>T (p.Ser960Leu) c.3392C>T (p.Ser1131Leu) c.3110C>T (p.Ser1037Leu) c.3254C>T (p.Ser1085Leu) c.3251C>T (p.Ser1084Leu) c.3113C>T (p.Ser1038Leu) c.2786C>T (p.Ser929Leu) c.2783C>T (p.Ser928Leu) c.2882C>T (p.Ser961Leu) c.*2810C>T (n.*2810C>T) c.2106+182219C>T (n.2106+182219C>T) c.532C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184326927A>C | CA437162105 | EIF2B5,EIF4G1 | c.3372A>C (p.Ser1124=) c.3306A>C (p.Ser1102=) c.2719A>C (n.2719A>C) c.2778A>C (p.Ser926=) c.3375A>C (p.Ser1125=) c.2880A>C (p.Ser960=) c.3393A>C (p.Ser1131=) c.3111A>C (p.Ser1037=) c.3255A>C (p.Ser1085=) c.3252A>C (p.Ser1084=) c.3114A>C (p.Ser1038=) c.2787A>C (p.Ser929=) c.2784A>C (p.Ser928=) c.2883A>C (p.Ser961=) c.*2811A>C (n.*2811A>C) c.2106+182220A>C (n.2106+182220A>C) c.533A>C | gnomAD v4 |
3 | g.184326927A>G | CA437162106 | EIF2B5,EIF4G1 | c.3372A>G (p.Ser1124=) c.3306A>G (p.Ser1102=) c.2719A>G (n.2719A>G) c.2778A>G (p.Ser926=) c.3375A>G (p.Ser1125=) c.2880A>G (p.Ser960=) c.3393A>G (p.Ser1131=) c.3111A>G (p.Ser1037=) c.3255A>G (p.Ser1085=) c.3252A>G (p.Ser1084=) c.3114A>G (p.Ser1038=) c.2787A>G (p.Ser929=) c.2784A>G (p.Ser928=) c.2883A>G (p.Ser961=) c.*2811A>G (n.*2811A>G) c.2106+182220A>G (n.2106+182220A>G) c.533A>G | |
3 | g.184326927A>T | CA437162107 | EIF2B5,EIF4G1 | c.3372A>T (p.Ser1124=) c.3306A>T (p.Ser1102=) c.2719A>T (n.2719A>T) c.2778A>T (p.Ser926=) c.3375A>T (p.Ser1125=) c.2880A>T (p.Ser960=) c.3393A>T (p.Ser1131=) c.3111A>T (p.Ser1037=) c.3255A>T (p.Ser1085=) c.3252A>T (p.Ser1084=) c.3114A>T (p.Ser1038=) c.2787A>T (p.Ser929=) c.2784A>T (p.Ser928=) c.2883A>T (p.Ser961=) c.*2811A>T (n.*2811A>T) c.2106+182220A>T (n.2106+182220A>T) c.533A>T | |
3 | g.184326928G>A | CA355413277 | EIF2B5,EIF4G1 | c.3373G>A (p.Ala1125Thr) c.3307G>A (p.Ala1103Thr) c.2720G>A (n.2720G>A) c.2779G>A (p.Ala927Thr) c.3376G>A (p.Ala1126Thr) c.2881G>A (p.Ala961Thr) c.3394G>A (p.Ala1132Thr) c.3112G>A (p.Ala1038Thr) c.3256G>A (p.Ala1086Thr) c.3253G>A (p.Ala1085Thr) c.3115G>A (p.Ala1039Thr) c.2788G>A (p.Ala930Thr) c.2785G>A (p.Ala929Thr) c.2884G>A (p.Ala962Thr) c.*2812G>A (n.*2812G>A) c.2106+182221G>A (n.2106+182221G>A) c.534G>A | |
3 | g.184326928G>C | CA355413276 | EIF2B5,EIF4G1 | c.3373G>C (p.Ala1125Pro) c.3307G>C (p.Ala1103Pro) c.2720G>C (n.2720G>C) c.2779G>C (p.Ala927Pro) c.3376G>C (p.Ala1126Pro) c.2881G>C (p.Ala961Pro) c.3394G>C (p.Ala1132Pro) c.3112G>C (p.Ala1038Pro) c.3256G>C (p.Ala1086Pro) c.3253G>C (p.Ala1085Pro) c.3115G>C (p.Ala1039Pro) c.2788G>C (p.Ala930Pro) c.2785G>C (p.Ala929Pro) c.2884G>C (p.Ala962Pro) c.*2812G>C (n.*2812G>C) c.2106+182221G>C (n.2106+182221G>C) c.534G>C | |
3 | g.184326928G>T | CA355413275 | EIF2B5,EIF4G1 | c.3373G>T (p.Ala1125Ser) c.3307G>T (p.Ala1103Ser) c.2720G>T (n.2720G>T) c.2779G>T (p.Ala927Ser) c.3376G>T (p.Ala1126Ser) c.2881G>T (p.Ala961Ser) c.3394G>T (p.Ala1132Ser) c.3112G>T (p.Ala1038Ser) c.3256G>T (p.Ala1086Ser) c.3253G>T (p.Ala1085Ser) c.3115G>T (p.Ala1039Ser) c.2788G>T (p.Ala930Ser) c.2785G>T (p.Ala929Ser) c.2884G>T (p.Ala962Ser) c.*2812G>T (n.*2812G>T) c.2106+182221G>T (n.2106+182221G>T) c.534G>T | COSMIC |
3 | g.184326929C>A | CA355413279 | EIF2B5,EIF4G1 | c.3374C>A (p.Ala1125Asp) c.3308C>A (p.Ala1103Asp) c.2721C>A (n.2721C>A) c.2780C>A (p.Ala927Asp) c.3377C>A (p.Ala1126Asp) c.2882C>A (p.Ala961Asp) c.3395C>A (p.Ala1132Asp) c.3113C>A (p.Ala1038Asp) c.3257C>A (p.Ala1086Asp) c.3254C>A (p.Ala1085Asp) c.3116C>A (p.Ala1039Asp) c.2789C>A (p.Ala930Asp) c.2786C>A (p.Ala929Asp) c.2885C>A (p.Ala962Asp) c.*2813C>A (n.*2813C>A) c.2106+182222C>A (n.2106+182222C>A) c.535C>A | |
3 | g.184326929C>G | CA355413281 | EIF2B5,EIF4G1 | c.3374C>G (p.Ala1125Gly) c.3308C>G (p.Ala1103Gly) c.2721C>G (n.2721C>G) c.2780C>G (p.Ala927Gly) c.3377C>G (p.Ala1126Gly) c.2882C>G (p.Ala961Gly) c.3395C>G (p.Ala1132Gly) c.3113C>G (p.Ala1038Gly) c.3257C>G (p.Ala1086Gly) c.3254C>G (p.Ala1085Gly) c.3116C>G (p.Ala1039Gly) c.2789C>G (p.Ala930Gly) c.2786C>G (p.Ala929Gly) c.2885C>G (p.Ala962Gly) c.*2813C>G (n.*2813C>G) c.2106+182222C>G (n.2106+182222C>G) c.535C>G | |
3 | g.184326929C>T | CA355413283 | EIF2B5,EIF4G1 | c.3374C>T (p.Ala1125Val) c.3308C>T (p.Ala1103Val) c.2721C>T (n.2721C>T) c.2780C>T (p.Ala927Val) c.3377C>T (p.Ala1126Val) c.2882C>T (p.Ala961Val) c.3395C>T (p.Ala1132Val) c.3113C>T (p.Ala1038Val) c.3257C>T (p.Ala1086Val) c.3254C>T (p.Ala1085Val) c.3116C>T (p.Ala1039Val) c.2789C>T (p.Ala930Val) c.2786C>T (p.Ala929Val) c.2885C>T (p.Ala962Val) c.*2813C>T (n.*2813C>T) c.2106+182222C>T (n.2106+182222C>T) c.535C>T | |
3 | g.184326930C>A | CA437162109 | EIF2B5,EIF4G1 | c.3375C>A (p.Ala1125=) c.3309C>A (p.Ala1103=) c.2722C>A (n.2722C>A) c.2781C>A (p.Ala927=) c.3378C>A (p.Ala1126=) c.2883C>A (p.Ala961=) c.3396C>A (p.Ala1132=) c.3114C>A (p.Ala1038=) c.3258C>A (p.Ala1086=) c.3255C>A (p.Ala1085=) c.3117C>A (p.Ala1039=) c.2790C>A (p.Ala930=) c.2787C>A (p.Ala929=) c.2886C>A (p.Ala962=) c.*2814C>A (n.*2814C>A) c.2106+182223C>A (n.2106+182223C>A) c.536C>A | |
3 | g.184326930C>G | CA437162110 | EIF2B5,EIF4G1 | c.3375C>G (p.Ala1125=) c.3309C>G (p.Ala1103=) c.2722C>G (n.2722C>G) c.2781C>G (p.Ala927=) c.3378C>G (p.Ala1126=) c.2883C>G (p.Ala961=) c.3396C>G (p.Ala1132=) c.3114C>G (p.Ala1038=) c.3258C>G (p.Ala1086=) c.3255C>G (p.Ala1085=) c.3117C>G (p.Ala1039=) c.2790C>G (p.Ala930=) c.2787C>G (p.Ala929=) c.2886C>G (p.Ala962=) c.*2814C>G (n.*2814C>G) c.2106+182223C>G (n.2106+182223C>G) c.536C>G | gnomAD v4 |
3 | g.184326930C>T | CA437162111 | EIF2B5,EIF4G1 | c.3375C>T (p.Ala1125=) c.3309C>T (p.Ala1103=) c.2722C>T (n.2722C>T) c.2781C>T (p.Ala927=) c.3378C>T (p.Ala1126=) c.2883C>T (p.Ala961=) c.3396C>T (p.Ala1132=) c.3114C>T (p.Ala1038=) c.3258C>T (p.Ala1086=) c.3255C>T (p.Ala1085=) c.3117C>T (p.Ala1039=) c.2790C>T (p.Ala930=) c.2787C>T (p.Ala929=) c.2886C>T (p.Ala962=) c.*2814C>T (n.*2814C>T) c.2106+182223C>T (n.2106+182223C>T) c.536C>T | gnomAD v4 |
3 | g.184326931C>A | CA355413288 | EIF2B5,EIF4G1 | c.3376C>A (p.Leu1126Ile) c.3310C>A (p.Leu1104Ile) c.2723C>A (n.2723C>A) c.2782C>A (p.Leu928Ile) c.3379C>A (p.Leu1127Ile) c.2884C>A (p.Leu962Ile) c.3397C>A (p.Leu1133Ile) c.3115C>A (p.Leu1039Ile) c.3259C>A (p.Leu1087Ile) c.3256C>A (p.Leu1086Ile) c.3118C>A (p.Leu1040Ile) c.2791C>A (p.Leu931Ile) c.2788C>A (p.Leu930Ile) c.2887C>A (p.Leu963Ile) c.*2815C>A (n.*2815C>A) c.2106+182224C>A (n.2106+182224C>A) c.537C>A | |
3 | g.184326931C>G | CA355413291 | EIF2B5,EIF4G1 | c.3376C>G (p.Leu1126Val) c.3310C>G (p.Leu1104Val) c.2723C>G (n.2723C>G) c.2782C>G (p.Leu928Val) c.3379C>G (p.Leu1127Val) c.2884C>G (p.Leu962Val) c.3397C>G (p.Leu1133Val) c.3115C>G (p.Leu1039Val) c.3259C>G (p.Leu1087Val) c.3256C>G (p.Leu1086Val) c.3118C>G (p.Leu1040Val) c.2791C>G (p.Leu931Val) c.2788C>G (p.Leu930Val) c.2887C>G (p.Leu963Val) c.*2815C>G (n.*2815C>G) c.2106+182224C>G (n.2106+182224C>G) c.537C>G | gnomAD v4 |
3 | g.184326931C>T | CA355413294 | EIF2B5,EIF4G1 | c.3376C>T (p.Leu1126Phe) c.3310C>T (p.Leu1104Phe) c.2723C>T (n.2723C>T) c.2782C>T (p.Leu928Phe) c.3379C>T (p.Leu1127Phe) c.2884C>T (p.Leu962Phe) c.3397C>T (p.Leu1133Phe) c.3115C>T (p.Leu1039Phe) c.3259C>T (p.Leu1087Phe) c.3256C>T (p.Leu1086Phe) c.3118C>T (p.Leu1040Phe) c.2791C>T (p.Leu931Phe) c.2788C>T (p.Leu930Phe) c.2887C>T (p.Leu963Phe) c.*2815C>T (n.*2815C>T) c.2106+182224C>T (n.2106+182224C>T) c.537C>T | |
3 | g.184326932T>A | CA355413298 | EIF2B5,EIF4G1 | c.3377T>A (p.Leu1126His) c.3311T>A (p.Leu1104His) c.2724T>A (n.2724T>A) c.2783T>A (p.Leu928His) c.3380T>A (p.Leu1127His) c.2885T>A (p.Leu962His) c.3398T>A (p.Leu1133His) c.3116T>A (p.Leu1039His) c.3260T>A (p.Leu1087His) c.3257T>A (p.Leu1086His) c.3119T>A (p.Leu1040His) c.2792T>A (p.Leu931His) c.2789T>A (p.Leu930His) c.2888T>A (p.Leu963His) c.*2816T>A (n.*2816T>A) c.2106+182225T>A (n.2106+182225T>A) c.538T>A | |
3 | g.184326932T>C | CA355413300 | EIF2B5,EIF4G1 | c.3377T>C (p.Leu1126Pro) c.3311T>C (p.Leu1104Pro) c.2724T>C (n.2724T>C) c.2783T>C (p.Leu928Pro) c.3380T>C (p.Leu1127Pro) c.2885T>C (p.Leu962Pro) c.3398T>C (p.Leu1133Pro) c.3116T>C (p.Leu1039Pro) c.3260T>C (p.Leu1087Pro) c.3257T>C (p.Leu1086Pro) c.3119T>C (p.Leu1040Pro) c.2792T>C (p.Leu931Pro) c.2789T>C (p.Leu930Pro) c.2888T>C (p.Leu963Pro) c.*2816T>C (n.*2816T>C) c.2106+182225T>C (n.2106+182225T>C) c.538T>C | |
3 | g.184326932T>G | CA355413303 | EIF2B5,EIF4G1 | c.3377T>G (p.Leu1126Arg) c.3311T>G (p.Leu1104Arg) c.2724T>G (n.2724T>G) c.2783T>G (p.Leu928Arg) c.3380T>G (p.Leu1127Arg) c.2885T>G (p.Leu962Arg) c.3398T>G (p.Leu1133Arg) c.3116T>G (p.Leu1039Arg) c.3260T>G (p.Leu1087Arg) c.3257T>G (p.Leu1086Arg) c.3119T>G (p.Leu1040Arg) c.2792T>G (p.Leu931Arg) c.2789T>G (p.Leu930Arg) c.2888T>G (p.Leu963Arg) c.*2816T>G (n.*2816T>G) c.2106+182225T>G (n.2106+182225T>G) c.538T>G | |
3 | g.184326933T>A | CA437162112 | EIF2B5,EIF4G1 | c.3378T>A (p.Leu1126=) c.3312T>A (p.Leu1104=) c.2725T>A (n.2725T>A) c.2784T>A (p.Leu928=) c.3381T>A (p.Leu1127=) c.2886T>A (p.Leu962=) c.3399T>A (p.Leu1133=) c.3117T>A (p.Leu1039=) c.3261T>A (p.Leu1087=) c.3258T>A (p.Leu1086=) c.3120T>A (p.Leu1040=) c.2793T>A (p.Leu931=) c.2790T>A (p.Leu930=) c.2889T>A (p.Leu963=) c.*2817T>A (n.*2817T>A) c.2106+182226T>A (n.2106+182226T>A) c.539T>A | |
3 | g.184326933T>C | CA437162114 | EIF2B5,EIF4G1 | c.3378T>C (p.Leu1126=) c.3312T>C (p.Leu1104=) c.2725T>C (n.2725T>C) c.2784T>C (p.Leu928=) c.3381T>C (p.Leu1127=) c.2886T>C (p.Leu962=) c.3399T>C (p.Leu1133=) c.3117T>C (p.Leu1039=) c.3261T>C (p.Leu1087=) c.3258T>C (p.Leu1086=) c.3120T>C (p.Leu1040=) c.2793T>C (p.Leu931=) c.2790T>C (p.Leu930=) c.2889T>C (p.Leu963=) c.*2817T>C (n.*2817T>C) c.2106+182226T>C (n.2106+182226T>C) c.539T>C | gnomAD v4 |
3 | g.184326933T>G | CA437162115 | EIF2B5,EIF4G1 | c.3378T>G (p.Leu1126=) c.3312T>G (p.Leu1104=) c.2725T>G (n.2725T>G) c.2784T>G (p.Leu928=) c.3381T>G (p.Leu1127=) c.2886T>G (p.Leu962=) c.3399T>G (p.Leu1133=) c.3117T>G (p.Leu1039=) c.3261T>G (p.Leu1087=) c.3258T>G (p.Leu1086=) c.3120T>G (p.Leu1040=) c.2793T>G (p.Leu931=) c.2790T>G (p.Leu930=) c.2889T>G (p.Leu963=) c.*2817T>G (n.*2817T>G) c.2106+182226T>G (n.2106+182226T>G) c.539T>G | |
3 | g.184326934C>A | CA355413309 | EIF2B5,EIF4G1 | c.3379C>A (p.Gln1127Lys) c.3313C>A (p.Gln1105Lys) c.2726C>A (n.2726C>A) c.2785C>A (p.Gln929Lys) c.3382C>A (p.Gln1128Lys) c.2887C>A (p.Gln963Lys) c.3400C>A (p.Gln1134Lys) c.3118C>A (p.Gln1040Lys) c.3262C>A (p.Gln1088Lys) c.3259C>A (p.Gln1087Lys) c.3121C>A (p.Gln1041Lys) c.2794C>A (p.Gln932Lys) c.2791C>A (p.Gln931Lys) c.2890C>A (p.Gln964Lys) c.*2818C>A (n.*2818C>A) c.2106+182227C>A (n.2106+182227C>A) c.540C>A | |
3 | g.184326934C>G | CA355413313 | EIF2B5,EIF4G1 | c.3379C>G (p.Gln1127Glu) c.3313C>G (p.Gln1105Glu) c.2726C>G (n.2726C>G) c.2785C>G (p.Gln929Glu) c.3382C>G (p.Gln1128Glu) c.2887C>G (p.Gln963Glu) c.3400C>G (p.Gln1134Glu) c.3118C>G (p.Gln1040Glu) c.3262C>G (p.Gln1088Glu) c.3259C>G (p.Gln1087Glu) c.3121C>G (p.Gln1041Glu) c.2794C>G (p.Gln932Glu) c.2791C>G (p.Gln931Glu) c.2890C>G (p.Gln964Glu) c.*2818C>G (n.*2818C>G) c.2106+182227C>G (n.2106+182227C>G) c.540C>G | gnomAD v4 |
3 | g.184326934C>T | CA355413316 | EIF2B5,EIF4G1 | c.3379C>T (p.Gln1127Ter) c.3313C>T (p.Gln1105Ter) c.2726C>T (n.2726C>T) c.2785C>T (p.Gln929Ter) c.3382C>T (p.Gln1128Ter) c.2887C>T (p.Gln963Ter) c.3400C>T (p.Gln1134Ter) c.3118C>T (p.Gln1040Ter) c.3262C>T (p.Gln1088Ter) c.3259C>T (p.Gln1087Ter) c.3121C>T (p.Gln1041Ter) c.2794C>T (p.Gln932Ter) c.2791C>T (p.Gln931Ter) c.2890C>T (p.Gln964Ter) c.*2818C>T (n.*2818C>T) c.2106+182227C>T (n.2106+182227C>T) c.540C>T | |
3 | g.184326935A>C | CA355413325 | EIF2B5,EIF4G1 | c.3380A>C (p.Gln1127Pro) c.3314A>C (p.Gln1105Pro) c.2727A>C (n.2727A>C) c.2786A>C (p.Gln929Pro) c.3383A>C (p.Gln1128Pro) c.2888A>C (p.Gln963Pro) c.3401A>C (p.Gln1134Pro) c.3119A>C (p.Gln1040Pro) c.3263A>C (p.Gln1088Pro) c.3260A>C (p.Gln1087Pro) c.3122A>C (p.Gln1041Pro) c.2795A>C (p.Gln932Pro) c.2792A>C (p.Gln931Pro) c.2891A>C (p.Gln964Pro) c.*2819A>C (n.*2819A>C) c.2106+182228A>C (n.2106+182228A>C) c.541A>C | gnomAD v4 |
3 | g.184326935A>G | CA355413326 | EIF2B5,EIF4G1 | c.3380A>G (p.Gln1127Arg) c.3314A>G (p.Gln1105Arg) c.2727A>G (n.2727A>G) c.2786A>G (p.Gln929Arg) c.3383A>G (p.Gln1128Arg) c.2888A>G (p.Gln963Arg) c.3401A>G (p.Gln1134Arg) c.3119A>G (p.Gln1040Arg) c.3263A>G (p.Gln1088Arg) c.3260A>G (p.Gln1087Arg) c.3122A>G (p.Gln1041Arg) c.2795A>G (p.Gln932Arg) c.2792A>G (p.Gln931Arg) c.2891A>G (p.Gln964Arg) c.*2819A>G (n.*2819A>G) c.2106+182228A>G (n.2106+182228A>G) c.541A>G | |
3 | g.184326935A>T | CA355413321 | EIF2B5,EIF4G1 | c.3380A>T (p.Gln1127Leu) c.3314A>T (p.Gln1105Leu) c.2727A>T (n.2727A>T) c.2786A>T (p.Gln929Leu) c.3383A>T (p.Gln1128Leu) c.2888A>T (p.Gln963Leu) c.3401A>T (p.Gln1134Leu) c.3119A>T (p.Gln1040Leu) c.3263A>T (p.Gln1088Leu) c.3260A>T (p.Gln1087Leu) c.3122A>T (p.Gln1041Leu) c.2795A>T (p.Gln932Leu) c.2792A>T (p.Gln931Leu) c.2891A>T (p.Gln964Leu) c.*2819A>T (n.*2819A>T) c.2106+182228A>T (n.2106+182228A>T) c.541A>T | |
3 | g.184326936A= | CA1425957795 | EIF2B5,EIF4G1 | c.3381A= (p.Gln1127=) c.3315A= (p.Gln1105=) c.2728A= (n.2728A=) c.2787A= (p.Gln929=) c.3384A= (p.Gln1128=) c.2889A= (p.Gln963=) c.3402A= (p.Gln1134=) c.3120A= (p.Gln1040=) c.3264A= (p.Gln1088=) c.3261A= (p.Gln1087=) c.3123A= (p.Gln1041=) c.2796A= (p.Gln932=) c.2793A= (p.Gln931=) c.2892A= (p.Gln964=) c.*2820A= (n.*2820A=) c.2106+182229A= (n.2106+182229A=) c.542A= | |
3 | g.184326936A>C | CA355413331 | EIF2B5,EIF4G1 | c.3381A>C (p.Gln1127His) c.3315A>C (p.Gln1105His) c.2728A>C (n.2728A>C) c.2787A>C (p.Gln929His) c.3384A>C (p.Gln1128His) c.2889A>C (p.Gln963His) c.3402A>C (p.Gln1134His) c.3120A>C (p.Gln1040His) c.3264A>C (p.Gln1088His) c.3261A>C (p.Gln1087His) c.3123A>C (p.Gln1041His) c.2796A>C (p.Gln932His) c.2793A>C (p.Gln931His) c.2892A>C (p.Gln964His) c.*2820A>C (n.*2820A>C) c.2106+182229A>C (n.2106+182229A>C) c.542A>C | |
3 | g.184326936A>G | CA437162118 | EIF2B5,EIF4G1 | c.3381A>G (p.Gln1127=) c.3315A>G (p.Gln1105=) c.2728A>G (n.2728A>G) c.2787A>G (p.Gln929=) c.3384A>G (p.Gln1128=) c.2889A>G (p.Gln963=) c.3402A>G (p.Gln1134=) c.3120A>G (p.Gln1040=) c.3264A>G (p.Gln1088=) c.3261A>G (p.Gln1087=) c.3123A>G (p.Gln1041=) c.2796A>G (p.Gln932=) c.2793A>G (p.Gln931=) c.2892A>G (p.Gln964=) c.*2820A>G (n.*2820A>G) c.2106+182229A>G (n.2106+182229A>G) c.542A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.184326936A>T | CA355413333 | EIF2B5,EIF4G1 | c.3381A>T (p.Gln1127His) c.3315A>T (p.Gln1105His) c.2728A>T (n.2728A>T) c.2787A>T (p.Gln929His) c.3384A>T (p.Gln1128His) c.2889A>T (p.Gln963His) c.3402A>T (p.Gln1134His) c.3120A>T (p.Gln1040His) c.3264A>T (p.Gln1088His) c.3261A>T (p.Gln1087His) c.3123A>T (p.Gln1041His) c.2796A>T (p.Gln932His) c.2793A>T (p.Gln931His) c.2892A>T (p.Gln964His) c.*2820A>T (n.*2820A>T) c.2106+182229A>T (n.2106+182229A>T) c.542A>T | |
3 | g.184326937C>A | CA355413337 | EIF2B5,EIF4G1 | c.3382C>A (p.Gln1128Lys) c.3316C>A (p.Gln1106Lys) c.2729C>A (n.2729C>A) c.2788C>A (p.Gln930Lys) c.3385C>A (p.Gln1129Lys) c.2890C>A (p.Gln964Lys) c.3403C>A (p.Gln1135Lys) c.3121C>A (p.Gln1041Lys) c.3265C>A (p.Gln1089Lys) c.3262C>A (p.Gln1088Lys) c.3124C>A (p.Gln1042Lys) c.2797C>A (p.Gln933Lys) c.2794C>A (p.Gln932Lys) c.2893C>A (p.Gln965Lys) c.*2821C>A (n.*2821C>A) c.2106+182230C>A (n.2106+182230C>A) c.543C>A | |
3 | g.184326937C>G | CA355413340 | EIF2B5,EIF4G1 | c.3382C>G (p.Gln1128Glu) c.3316C>G (p.Gln1106Glu) c.2729C>G (n.2729C>G) c.2788C>G (p.Gln930Glu) c.3385C>G (p.Gln1129Glu) c.2890C>G (p.Gln964Glu) c.3403C>G (p.Gln1135Glu) c.3121C>G (p.Gln1041Glu) c.3265C>G (p.Gln1089Glu) c.3262C>G (p.Gln1088Glu) c.3124C>G (p.Gln1042Glu) c.2797C>G (p.Gln933Glu) c.2794C>G (p.Gln932Glu) c.2893C>G (p.Gln965Glu) c.*2821C>G (n.*2821C>G) c.2106+182230C>G (n.2106+182230C>G) c.543C>G | |
3 | g.184326937C>T | CA355413344 | EIF2B5,EIF4G1 | c.3382C>T (p.Gln1128Ter) c.3316C>T (p.Gln1106Ter) c.2729C>T (n.2729C>T) c.2788C>T (p.Gln930Ter) c.3385C>T (p.Gln1129Ter) c.2890C>T (p.Gln964Ter) c.3403C>T (p.Gln1135Ter) c.3121C>T (p.Gln1041Ter) c.3265C>T (p.Gln1089Ter) c.3262C>T (p.Gln1088Ter) c.3124C>T (p.Gln1042Ter) c.2797C>T (p.Gln933Ter) c.2794C>T (p.Gln932Ter) c.2893C>T (p.Gln965Ter) c.*2821C>T (n.*2821C>T) c.2106+182230C>T (n.2106+182230C>T) c.543C>T | |
3 | g.184326938A>C | CA355413348 | EIF2B5,EIF4G1 | c.3383A>C (p.Gln1128Pro) c.3317A>C (p.Gln1106Pro) c.2730A>C (n.2730A>C) c.2789A>C (p.Gln930Pro) c.3386A>C (p.Gln1129Pro) c.2891A>C (p.Gln964Pro) c.3404A>C (p.Gln1135Pro) c.3122A>C (p.Gln1041Pro) c.3266A>C (p.Gln1089Pro) c.3263A>C (p.Gln1088Pro) c.3125A>C (p.Gln1042Pro) c.2798A>C (p.Gln933Pro) c.2795A>C (p.Gln932Pro) c.2894A>C (p.Gln965Pro) c.*2822A>C (n.*2822A>C) c.2106+182231A>C (n.2106+182231A>C) c.544A>C | |
3 | g.184326938A>G | CA355413351 | EIF2B5,EIF4G1 | c.3383A>G (p.Gln1128Arg) c.3317A>G (p.Gln1106Arg) c.2730A>G (n.2730A>G) c.2789A>G (p.Gln930Arg) c.3386A>G (p.Gln1129Arg) c.2891A>G (p.Gln964Arg) c.3404A>G (p.Gln1135Arg) c.3122A>G (p.Gln1041Arg) c.3266A>G (p.Gln1089Arg) c.3263A>G (p.Gln1088Arg) c.3125A>G (p.Gln1042Arg) c.2798A>G (p.Gln933Arg) c.2795A>G (p.Gln932Arg) c.2894A>G (p.Gln965Arg) c.*2822A>G (n.*2822A>G) c.2106+182231A>G (n.2106+182231A>G) c.544A>G | |
3 | g.184326938A>T | CA355413356 | EIF2B5,EIF4G1 | c.3383A>T (p.Gln1128Leu) c.3317A>T (p.Gln1106Leu) c.2730A>T (n.2730A>T) c.2789A>T (p.Gln930Leu) c.3386A>T (p.Gln1129Leu) c.2891A>T (p.Gln964Leu) c.3404A>T (p.Gln1135Leu) c.3122A>T (p.Gln1041Leu) c.3266A>T (p.Gln1089Leu) c.3263A>T (p.Gln1088Leu) c.3125A>T (p.Gln1042Leu) c.2798A>T (p.Gln933Leu) c.2795A>T (p.Gln932Leu) c.2894A>T (p.Gln965Leu) c.*2822A>T (n.*2822A>T) c.2106+182231A>T (n.2106+182231A>T) c.544A>T | |
3 | g.184326939A= | CA1425957798 | EIF2B5,EIF4G1 | c.3384A= (p.Gln1128=) c.3318A= (p.Gln1106=) c.2731A= (n.2731A=) c.2790A= (p.Gln930=) c.3387A= (p.Gln1129=) c.2892A= (p.Gln964=) c.3405A= (p.Gln1135=) c.3123A= (p.Gln1041=) c.3267A= (p.Gln1089=) c.3264A= (p.Gln1088=) c.3126A= (p.Gln1042=) c.2799A= (p.Gln933=) c.2796A= (p.Gln932=) c.2895A= (p.Gln965=) c.*2823A= (n.*2823A=) c.2106+182232A= (n.2106+182232A=) c.545A= | |
3 | g.184326939A>C | CA355413360 | EIF2B5,EIF4G1 | c.3384A>C (p.Gln1128His) c.3318A>C (p.Gln1106His) c.2731A>C (n.2731A>C) c.2790A>C (p.Gln930His) c.3387A>C (p.Gln1129His) c.2892A>C (p.Gln964His) c.3405A>C (p.Gln1135His) c.3123A>C (p.Gln1041His) c.3267A>C (p.Gln1089His) c.3264A>C (p.Gln1088His) c.3126A>C (p.Gln1042His) c.2799A>C (p.Gln933His) c.2796A>C (p.Gln932His) c.2895A>C (p.Gln965His) c.*2823A>C (n.*2823A>C) c.2106+182232A>C (n.2106+182232A>C) c.545A>C | |
3 | g.184326939A>G | CA437162119 | EIF2B5,EIF4G1 | c.3384A>G (p.Gln1128=) c.3318A>G (p.Gln1106=) c.2731A>G (n.2731A>G) c.2790A>G (p.Gln930=) c.3387A>G (p.Gln1129=) c.2892A>G (p.Gln964=) c.3405A>G (p.Gln1135=) c.3123A>G (p.Gln1041=) c.3267A>G (p.Gln1089=) c.3264A>G (p.Gln1088=) c.3126A>G (p.Gln1042=) c.2799A>G (p.Gln933=) c.2796A>G (p.Gln932=) c.2895A>G (p.Gln965=) c.*2823A>G (n.*2823A>G) c.2106+182232A>G (n.2106+182232A>G) c.545A>G | dbSNP gnomAD v4 |
3 | g.184326939A>T | CA355413363 | EIF2B5,EIF4G1 | c.3384A>T (p.Gln1128His) c.3318A>T (p.Gln1106His) c.2731A>T (n.2731A>T) c.2790A>T (p.Gln930His) c.3387A>T (p.Gln1129His) c.2892A>T (p.Gln964His) c.3405A>T (p.Gln1135His) c.3123A>T (p.Gln1041His) c.3267A>T (p.Gln1089His) c.3264A>T (p.Gln1088His) c.3126A>T (p.Gln1042His) c.2799A>T (p.Gln933His) c.2796A>T (p.Gln932His) c.2895A>T (p.Gln965His) c.*2823A>T (n.*2823A>T) c.2106+182232A>T (n.2106+182232A>T) c.545A>T | |
3 | g.184326940G>A | CA355413365 | EIF2B5,EIF4G1 | c.3385G>A (p.Ala1129Thr) c.3319G>A (p.Ala1107Thr) c.2732G>A (n.2732G>A) c.2791G>A (p.Ala931Thr) c.3388G>A (p.Ala1130Thr) c.2893G>A (p.Ala965Thr) c.3406G>A (p.Ala1136Thr) c.3124G>A (p.Ala1042Thr) c.3268G>A (p.Ala1090Thr) c.3265G>A (p.Ala1089Thr) c.3127G>A (p.Ala1043Thr) c.2800G>A (p.Ala934Thr) c.2797G>A (p.Ala933Thr) c.2896G>A (p.Ala966Thr) c.*2824G>A (n.*2824G>A) c.2106+182233G>A (n.2106+182233G>A) c.546G>A | |
3 | g.184326940G>C | CA355413367 | EIF2B5,EIF4G1 | c.3385G>C (p.Ala1129Pro) c.3319G>C (p.Ala1107Pro) c.2732G>C (n.2732G>C) c.2791G>C (p.Ala931Pro) c.3388G>C (p.Ala1130Pro) c.2893G>C (p.Ala965Pro) c.3406G>C (p.Ala1136Pro) c.3124G>C (p.Ala1042Pro) c.3268G>C (p.Ala1090Pro) c.3265G>C (p.Ala1089Pro) c.3127G>C (p.Ala1043Pro) c.2800G>C (p.Ala934Pro) c.2797G>C (p.Ala933Pro) c.2896G>C (p.Ala966Pro) c.*2824G>C (n.*2824G>C) c.2106+182233G>C (n.2106+182233G>C) c.546G>C | |
3 | g.184326940G>T | CA355413371 | EIF2B5,EIF4G1 | c.3385G>T (p.Ala1129Ser) c.3319G>T (p.Ala1107Ser) c.2732G>T (n.2732G>T) c.2791G>T (p.Ala931Ser) c.3388G>T (p.Ala1130Ser) c.2893G>T (p.Ala965Ser) c.3406G>T (p.Ala1136Ser) c.3124G>T (p.Ala1042Ser) c.3268G>T (p.Ala1090Ser) c.3265G>T (p.Ala1089Ser) c.3127G>T (p.Ala1043Ser) c.2800G>T (p.Ala934Ser) c.2797G>T (p.Ala933Ser) c.2896G>T (p.Ala966Ser) c.*2824G>T (n.*2824G>T) c.2106+182233G>T (n.2106+182233G>T) c.546G>T | |
3 | g.184326941C>A | CA355413381 | EIF2B5,EIF4G1 | c.3386C>A (p.Ala1129Glu) c.3320C>A (p.Ala1107Glu) c.2733C>A (n.2733C>A) c.2792C>A (p.Ala931Glu) c.3389C>A (p.Ala1130Glu) c.2894C>A (p.Ala965Glu) c.3407C>A (p.Ala1136Glu) c.3125C>A (p.Ala1042Glu) c.3269C>A (p.Ala1090Glu) c.3266C>A (p.Ala1089Glu) c.3128C>A (p.Ala1043Glu) c.2801C>A (p.Ala934Glu) c.2798C>A (p.Ala933Glu) c.2897C>A (p.Ala966Glu) c.*2825C>A (n.*2825C>A) c.2106+182234C>A (n.2106+182234C>A) c.547C>A | |
3 | g.184326941C= | CA1425957801 | EIF2B5,EIF4G1 | c.3386C= (p.Ala1129=) c.3320C= (p.Ala1107=) c.2733C= (n.2733C=) c.2792C= (p.Ala931=) c.3389C= (p.Ala1130=) c.2894C= (p.Ala965=) c.3407C= (p.Ala1136=) c.3125C= (p.Ala1042=) c.3269C= (p.Ala1090=) c.3266C= (p.Ala1089=) c.3128C= (p.Ala1043=) c.2801C= (p.Ala934=) c.2798C= (p.Ala933=) c.2897C= (p.Ala966=) c.*2825C= (n.*2825C=) c.2106+182234C= (n.2106+182234C=) c.547C= | |
3 | g.184326941C>G | CA355413377 | EIF2B5,EIF4G1 | c.3386C>G (p.Ala1129Gly) c.3320C>G (p.Ala1107Gly) c.2733C>G (n.2733C>G) c.2792C>G (p.Ala931Gly) c.3389C>G (p.Ala1130Gly) c.2894C>G (p.Ala965Gly) c.3407C>G (p.Ala1136Gly) c.3125C>G (p.Ala1042Gly) c.3269C>G (p.Ala1090Gly) c.3266C>G (p.Ala1089Gly) c.3128C>G (p.Ala1043Gly) c.2801C>G (p.Ala934Gly) c.2798C>G (p.Ala933Gly) c.2897C>G (p.Ala966Gly) c.*2825C>G (n.*2825C>G) c.2106+182234C>G (n.2106+182234C>G) c.547C>G | |
3 | g.184326941C>T | CA2732774 | EIF2B5,EIF4G1 | c.3386C>T (p.Ala1129Val) c.3320C>T (p.Ala1107Val) c.2733C>T (n.2733C>T) c.2792C>T (p.Ala931Val) c.3389C>T (p.Ala1130Val) c.2894C>T (p.Ala965Val) c.3407C>T (p.Ala1136Val) c.3125C>T (p.Ala1042Val) c.3269C>T (p.Ala1090Val) c.3266C>T (p.Ala1089Val) c.3128C>T (p.Ala1043Val) c.2801C>T (p.Ala934Val) c.2798C>T (p.Ala933Val) c.2897C>T (p.Ala966Val) c.*2825C>T (n.*2825C>T) c.2106+182234C>T (n.2106+182234C>T) c.547C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.184326942G>A | CA2732775 | EIF2B5,EIF4G1 | c.3387G>A (p.Ala1129=) c.3321G>A (p.Ala1107=) c.2734G>A (n.2734G>A) c.2793G>A (p.Ala931=) c.3390G>A (p.Ala1130=) c.2895G>A (p.Ala965=) c.3408G>A (p.Ala1136=) c.3126G>A (p.Ala1042=) c.3270G>A (p.Ala1090=) c.3267G>A (p.Ala1089=) c.3129G>A (p.Ala1043=) c.2802G>A (p.Ala934=) c.2799G>A (p.Ala933=) c.2898G>A (p.Ala966=) c.*2826G>A (n.*2826G>A) c.2106+182235G>A (n.2106+182235G>A) c.548G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184326942G>C | CA437162120 | EIF2B5,EIF4G1 | c.3387G>C (p.Ala1129=) c.3321G>C (p.Ala1107=) c.2734G>C (n.2734G>C) c.2793G>C (p.Ala931=) c.3390G>C (p.Ala1130=) c.2895G>C (p.Ala965=) c.3408G>C (p.Ala1136=) c.3126G>C (p.Ala1042=) c.3270G>C (p.Ala1090=) c.3267G>C (p.Ala1089=) c.3129G>C (p.Ala1043=) c.2802G>C (p.Ala934=) c.2799G>C (p.Ala933=) c.2898G>C (p.Ala966=) c.*2826G>C (n.*2826G>C) c.2106+182235G>C (n.2106+182235G>C) c.548G>C | |
3 | g.184326942G= | CA1425957804 | EIF2B5,EIF4G1 | c.3387G= (p.Ala1129=) c.3321G= (p.Ala1107=) c.2734G= (n.2734G=) c.2793G= (p.Ala931=) c.3390G= (p.Ala1130=) c.2895G= (p.Ala965=) c.3408G= (p.Ala1136=) c.3126G= (p.Ala1042=) c.3270G= (p.Ala1090=) c.3267G= (p.Ala1089=) c.3129G= (p.Ala1043=) c.2802G= (p.Ala934=) c.2799G= (p.Ala933=) c.2898G= (p.Ala966=) c.*2826G= (n.*2826G=) c.2106+182235G= (n.2106+182235G=) c.548G= | |
3 | g.184326942G>T | CA437162121 | EIF2B5,EIF4G1 | c.3387G>T (p.Ala1129=) c.3321G>T (p.Ala1107=) c.2734G>T (n.2734G>T) c.2793G>T (p.Ala931=) c.3390G>T (p.Ala1130=) c.2895G>T (p.Ala965=) c.3408G>T (p.Ala1136=) c.3126G>T (p.Ala1042=) c.3270G>T (p.Ala1090=) c.3267G>T (p.Ala1089=) c.3129G>T (p.Ala1043=) c.2802G>T (p.Ala934=) c.2799G>T (p.Ala933=) c.2898G>T (p.Ala966=) c.*2826G>T (n.*2826G>T) c.2106+182235G>T (n.2106+182235G>T) c.548G>T | ClinVar |
3 | g.184326943G>A | CA355413389 | EIF2B5,EIF4G1 | c.3388G>A (p.Val1130Ile) c.3322G>A (p.Val1108Ile) c.2735G>A (n.2735G>A) c.2794G>A (p.Val932Ile) c.3391G>A (p.Val1131Ile) c.2896G>A (p.Val966Ile) c.3409G>A (p.Val1137Ile) c.3127G>A (p.Val1043Ile) c.3271G>A (p.Val1091Ile) c.3268G>A (p.Val1090Ile) c.3130G>A (p.Val1044Ile) c.2803G>A (p.Val935Ile) c.2800G>A (p.Val934Ile) c.2899G>A (p.Val967Ile) c.*2827G>A (n.*2827G>A) c.2106+182236G>A (n.2106+182236G>A) c.549G>A | |
3 | g.184326943G>C | CA355413391 | EIF2B5,EIF4G1 | c.3388G>C (p.Val1130Leu) c.3322G>C (p.Val1108Leu) c.2735G>C (n.2735G>C) c.2794G>C (p.Val932Leu) c.3391G>C (p.Val1131Leu) c.2896G>C (p.Val966Leu) c.3409G>C (p.Val1137Leu) c.3127G>C (p.Val1043Leu) c.3271G>C (p.Val1091Leu) c.3268G>C (p.Val1090Leu) c.3130G>C (p.Val1044Leu) c.2803G>C (p.Val935Leu) c.2800G>C (p.Val934Leu) c.2899G>C (p.Val967Leu) c.*2827G>C (n.*2827G>C) c.2106+182236G>C (n.2106+182236G>C) c.549G>C | |
3 | g.184326943G= | CA1425957807 | EIF2B5,EIF4G1 | c.3388G= (p.Val1130=) c.3322G= (p.Val1108=) c.2735G= (n.2735G=) c.2794G= (p.Val932=) c.3391G= (p.Val1131=) c.2896G= (p.Val966=) c.3409G= (p.Val1137=) c.3127G= (p.Val1043=) c.3271G= (p.Val1091=) c.3268G= (p.Val1090=) c.3130G= (p.Val1044=) c.2803G= (p.Val935=) c.2800G= (p.Val934=) c.2899G= (p.Val967=) c.*2827G= (n.*2827G=) c.2106+182236G= (n.2106+182236G=) c.549G= | |
3 | g.184326943G>T | CA355413395 | EIF2B5,EIF4G1 | c.3388G>T (p.Val1130Leu) c.3322G>T (p.Val1108Leu) c.2735G>T (n.2735G>T) c.2794G>T (p.Val932Leu) c.3391G>T (p.Val1131Leu) c.2896G>T (p.Val966Leu) c.3409G>T (p.Val1137Leu) c.3127G>T (p.Val1043Leu) c.3271G>T (p.Val1091Leu) c.3268G>T (p.Val1090Leu) c.3130G>T (p.Val1044Leu) c.2803G>T (p.Val935Leu) c.2800G>T (p.Val934Leu) c.2899G>T (p.Val967Leu) c.*2827G>T (n.*2827G>T) c.2106+182236G>T (n.2106+182236G>T) c.549G>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184326944T>A | CA355413398 | EIF2B5,EIF4G1 | c.3389T>A (p.Val1130Glu) c.3323T>A (p.Val1108Glu) c.2736T>A (n.2736T>A) c.2795T>A (p.Val932Glu) c.3392T>A (p.Val1131Glu) c.2897T>A (p.Val966Glu) c.3410T>A (p.Val1137Glu) c.3128T>A (p.Val1043Glu) c.3272T>A (p.Val1091Glu) c.3269T>A (p.Val1090Glu) c.3131T>A (p.Val1044Glu) c.2804T>A (p.Val935Glu) c.2801T>A (p.Val934Glu) c.2900T>A (p.Val967Glu) c.*2828T>A (n.*2828T>A) c.2106+182237T>A (n.2106+182237T>A) c.550T>A | |
3 | g.184326944T>C | CA355413401 | EIF2B5,EIF4G1 | c.3389T>C (p.Val1130Ala) c.3323T>C (p.Val1108Ala) c.2736T>C (n.2736T>C) c.2795T>C (p.Val932Ala) c.3392T>C (p.Val1131Ala) c.2897T>C (p.Val966Ala) c.3410T>C (p.Val1137Ala) c.3128T>C (p.Val1043Ala) c.3272T>C (p.Val1091Ala) c.3269T>C (p.Val1090Ala) c.3131T>C (p.Val1044Ala) c.2804T>C (p.Val935Ala) c.2801T>C (p.Val934Ala) c.2900T>C (p.Val967Ala) c.*2828T>C (n.*2828T>C) c.2106+182237T>C (n.2106+182237T>C) c.550T>C | |
3 | g.184326944T>G | CA355413403 | EIF2B5,EIF4G1 | c.3389T>G (p.Val1130Gly) c.3323T>G (p.Val1108Gly) c.2736T>G (n.2736T>G) c.2795T>G (p.Val932Gly) c.3392T>G (p.Val1131Gly) c.2897T>G (p.Val966Gly) c.3410T>G (p.Val1137Gly) c.3128T>G (p.Val1043Gly) c.3272T>G (p.Val1091Gly) c.3269T>G (p.Val1090Gly) c.3131T>G (p.Val1044Gly) c.2804T>G (p.Val935Gly) c.2801T>G (p.Val934Gly) c.2900T>G (p.Val967Gly) c.*2828T>G (n.*2828T>G) c.2106+182237T>G (n.2106+182237T>G) c.550T>G | |
3 | g.184326945A= | CA1425957810 | EIF2B5,EIF4G1 | c.3390A= (p.Val1130=) c.3324A= (p.Val1108=) c.2737A= (n.2737A=) c.2796A= (p.Val932=) c.3393A= (p.Val1131=) c.2898A= (p.Val966=) c.3411A= (p.Val1137=) c.3129A= (p.Val1043=) c.3273A= (p.Val1091=) c.3270A= (p.Val1090=) c.3132A= (p.Val1044=) c.2805A= (p.Val935=) c.2802A= (p.Val934=) c.2901A= (p.Val967=) c.*2829A= (n.*2829A=) c.2106+182238A= (n.2106+182238A=) c.551A= | |
3 | g.184326945A>C | CA437162127 | EIF2B5,EIF4G1 | c.3390A>C (p.Val1130=) c.3324A>C (p.Val1108=) c.2737A>C (n.2737A>C) c.2796A>C (p.Val932=) c.3393A>C (p.Val1131=) c.2898A>C (p.Val966=) c.3411A>C (p.Val1137=) c.3129A>C (p.Val1043=) c.3273A>C (p.Val1091=) c.3270A>C (p.Val1090=) c.3132A>C (p.Val1044=) c.2805A>C (p.Val935=) c.2802A>C (p.Val934=) c.2901A>C (p.Val967=) c.*2829A>C (n.*2829A>C) c.2106+182238A>C (n.2106+182238A>C) c.551A>C | gnomAD v4 |
3 | g.184326945A>G | CA437162126 | EIF2B5,EIF4G1 | c.3390A>G (p.Val1130=) c.3324A>G (p.Val1108=) c.2737A>G (n.2737A>G) c.2796A>G (p.Val932=) c.3393A>G (p.Val1131=) c.2898A>G (p.Val966=) c.3411A>G (p.Val1137=) c.3129A>G (p.Val1043=) c.3273A>G (p.Val1091=) c.3270A>G (p.Val1090=) c.3132A>G (p.Val1044=) c.2805A>G (p.Val935=) c.2802A>G (p.Val934=) c.2901A>G (p.Val967=) c.*2829A>G (n.*2829A>G) c.2106+182238A>G (n.2106+182238A>G) c.551A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184326945A>T | CA437162128 | EIF2B5,EIF4G1 | c.3390A>T (p.Val1130=) c.3324A>T (p.Val1108=) c.2737A>T (n.2737A>T) c.2796A>T (p.Val932=) c.3393A>T (p.Val1131=) c.2898A>T (p.Val966=) c.3411A>T (p.Val1137=) c.3129A>T (p.Val1043=) c.3273A>T (p.Val1091=) c.3270A>T (p.Val1090=) c.3132A>T (p.Val1044=) c.2805A>T (p.Val935=) c.2802A>T (p.Val934=) c.2901A>T (p.Val967=) c.*2829A>T (n.*2829A>T) c.2106+182238A>T (n.2106+182238A>T) c.551A>T | |
3 | g.184326946C>A | CA355413407 | EIF2B5,EIF4G1 | c.3391C>A (p.Pro1131Thr) c.3325C>A (p.Pro1109Thr) c.2738C>A (n.2738C>A) c.2797C>A (p.Pro933Thr) c.3394C>A (p.Pro1132Thr) c.2899C>A (p.Pro967Thr) c.3412C>A (p.Pro1138Thr) c.3130C>A (p.Pro1044Thr) c.3274C>A (p.Pro1092Thr) c.3271C>A (p.Pro1091Thr) c.3133C>A (p.Pro1045Thr) c.2806C>A (p.Pro936Thr) c.2803C>A (p.Pro935Thr) c.2902C>A (p.Pro968Thr) c.*2830C>A (n.*2830C>A) c.2106+182239C>A (n.2106+182239C>A) c.552C>A | |
3 | g.184326946C= | CA1425957813 | EIF2B5,EIF4G1 | c.3391C= (p.Pro1131=) c.3325C= (p.Pro1109=) c.2738C= (n.2738C=) c.2797C= (p.Pro933=) c.3394C= (p.Pro1132=) c.2899C= (p.Pro967=) c.3412C= (p.Pro1138=) c.3130C= (p.Pro1044=) c.3274C= (p.Pro1092=) c.3271C= (p.Pro1091=) c.3133C= (p.Pro1045=) c.2806C= (p.Pro936=) c.2803C= (p.Pro935=) c.2902C= (p.Pro968=) c.*2830C= (n.*2830C=) c.2106+182239C= (n.2106+182239C=) c.552C= | |
3 | g.184326946C>G | CA355413411 | EIF2B5,EIF4G1 | c.3391C>G (p.Pro1131Ala) c.3325C>G (p.Pro1109Ala) c.2738C>G (n.2738C>G) c.2797C>G (p.Pro933Ala) c.3394C>G (p.Pro1132Ala) c.2899C>G (p.Pro967Ala) c.3412C>G (p.Pro1138Ala) c.3130C>G (p.Pro1044Ala) c.3274C>G (p.Pro1092Ala) c.3271C>G (p.Pro1091Ala) c.3133C>G (p.Pro1045Ala) c.2806C>G (p.Pro936Ala) c.2803C>G (p.Pro935Ala) c.2902C>G (p.Pro968Ala) c.*2830C>G (n.*2830C>G) c.2106+182239C>G (n.2106+182239C>G) c.552C>G | |
3 | g.184326946C>T | CA2732776 | EIF2B5,EIF4G1 | c.3391C>T (p.Pro1131Ser) c.3325C>T (p.Pro1109Ser) c.2738C>T (n.2738C>T) c.2797C>T (p.Pro933Ser) c.3394C>T (p.Pro1132Ser) c.2899C>T (p.Pro967Ser) c.3412C>T (p.Pro1138Ser) c.3130C>T (p.Pro1044Ser) c.3274C>T (p.Pro1092Ser) c.3271C>T (p.Pro1091Ser) c.3133C>T (p.Pro1045Ser) c.2806C>T (p.Pro936Ser) c.2803C>T (p.Pro935Ser) c.2902C>T (p.Pro968Ser) c.*2830C>T (n.*2830C>T) c.2106+182239C>T (n.2106+182239C>T) c.552C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326947C>A | CA355413418 | EIF2B5,EIF4G1 | c.3392C>A (p.Pro1131His) c.3326C>A (p.Pro1109His) c.2739C>A (n.2739C>A) c.2798C>A (p.Pro933His) c.3395C>A (p.Pro1132His) c.2900C>A (p.Pro967His) c.3413C>A (p.Pro1138His) c.3131C>A (p.Pro1044His) c.3275C>A (p.Pro1092His) c.3272C>A (p.Pro1091His) c.3134C>A (p.Pro1045His) c.2807C>A (p.Pro936His) c.2804C>A (p.Pro935His) c.2903C>A (p.Pro968His) c.*2831C>A (n.*2831C>A) c.2106+182240C>A (n.2106+182240C>A) c.553C>A | ClinVar gnomAD v4 |
3 | g.184326947C>G | CA355413420 | EIF2B5,EIF4G1 | c.3392C>G (p.Pro1131Arg) c.3326C>G (p.Pro1109Arg) c.2739C>G (n.2739C>G) c.2798C>G (p.Pro933Arg) c.3395C>G (p.Pro1132Arg) c.2900C>G (p.Pro967Arg) c.3413C>G (p.Pro1138Arg) c.3131C>G (p.Pro1044Arg) c.3275C>G (p.Pro1092Arg) c.3272C>G (p.Pro1091Arg) c.3134C>G (p.Pro1045Arg) c.2807C>G (p.Pro936Arg) c.2804C>G (p.Pro935Arg) c.2903C>G (p.Pro968Arg) c.*2831C>G (n.*2831C>G) c.2106+182240C>G (n.2106+182240C>G) c.553C>G | |
3 | g.184326947C>T | CA355413422 | EIF2B5,EIF4G1 | c.3392C>T (p.Pro1131Leu) c.3326C>T (p.Pro1109Leu) c.2739C>T (n.2739C>T) c.2798C>T (p.Pro933Leu) c.3395C>T (p.Pro1132Leu) c.2900C>T (p.Pro967Leu) c.3413C>T (p.Pro1138Leu) c.3131C>T (p.Pro1044Leu) c.3275C>T (p.Pro1092Leu) c.3272C>T (p.Pro1091Leu) c.3134C>T (p.Pro1045Leu) c.2807C>T (p.Pro936Leu) c.2804C>T (p.Pro935Leu) c.2903C>T (p.Pro968Leu) c.*2831C>T (n.*2831C>T) c.2106+182240C>T (n.2106+182240C>T) c.553C>T | gnomAD v4 |
3 | g.184326948C>A | CA437162129 | EIF2B5,EIF4G1 | c.3393C>A (p.Pro1131=) c.3327C>A (p.Pro1109=) c.2740C>A (n.2740C>A) c.2799C>A (p.Pro933=) c.3396C>A (p.Pro1132=) c.2901C>A (p.Pro967=) c.3414C>A (p.Pro1138=) c.3132C>A (p.Pro1044=) c.3276C>A (p.Pro1092=) c.3273C>A (p.Pro1091=) c.3135C>A (p.Pro1045=) c.2808C>A (p.Pro936=) c.2805C>A (p.Pro935=) c.2904C>A (p.Pro968=) c.*2832C>A (n.*2832C>A) c.2106+182241C>A (n.2106+182241C>A) c.554C>A | |
3 | g.184326948C>G | CA437162130 | EIF2B5,EIF4G1 | c.3393C>G (p.Pro1131=) c.3327C>G (p.Pro1109=) c.2740C>G (n.2740C>G) c.2799C>G (p.Pro933=) c.3396C>G (p.Pro1132=) c.2901C>G (p.Pro967=) c.3414C>G (p.Pro1138=) c.3132C>G (p.Pro1044=) c.3276C>G (p.Pro1092=) c.3273C>G (p.Pro1091=) c.3135C>G (p.Pro1045=) c.2808C>G (p.Pro936=) c.2805C>G (p.Pro935=) c.2904C>G (p.Pro968=) c.*2832C>G (n.*2832C>G) c.2106+182241C>G (n.2106+182241C>G) c.554C>G | |
3 | g.184326948C>T | CA437162131 | EIF2B5,EIF4G1 | c.3393C>T (p.Pro1131=) c.3327C>T (p.Pro1109=) c.2740C>T (n.2740C>T) c.2799C>T (p.Pro933=) c.3396C>T (p.Pro1132=) c.2901C>T (p.Pro967=) c.3414C>T (p.Pro1138=) c.3132C>T (p.Pro1044=) c.3276C>T (p.Pro1092=) c.3273C>T (p.Pro1091=) c.3135C>T (p.Pro1045=) c.2808C>T (p.Pro936=) c.2805C>T (p.Pro935=) c.2904C>T (p.Pro968=) c.*2832C>T (n.*2832C>T) c.2106+182241C>T (n.2106+182241C>T) c.554C>T | |
3 | g.184326949A>C | CA355413435 | EIF2B5,EIF4G1 | c.3394A>C (p.Thr1132Pro) c.3328A>C (p.Thr1110Pro) c.2741A>C (n.2741A>C) c.2800A>C (p.Thr934Pro) c.3397A>C (p.Thr1133Pro) c.2902A>C (p.Thr968Pro) c.3415A>C (p.Thr1139Pro) c.3133A>C (p.Thr1045Pro) c.3277A>C (p.Thr1093Pro) c.3274A>C (p.Thr1092Pro) c.3136A>C (p.Thr1046Pro) c.2809A>C (p.Thr937Pro) c.2806A>C (p.Thr936Pro) c.2905A>C (p.Thr969Pro) c.*2833A>C (n.*2833A>C) c.2106+182242A>C (n.2106+182242A>C) c.555A>C | COSMIC |
3 | g.184326949A>G | CA355413431 | EIF2B5,EIF4G1 | c.3394A>G (p.Thr1132Ala) c.3328A>G (p.Thr1110Ala) c.2741A>G (n.2741A>G) c.2800A>G (p.Thr934Ala) c.3397A>G (p.Thr1133Ala) c.2902A>G (p.Thr968Ala) c.3415A>G (p.Thr1139Ala) c.3133A>G (p.Thr1045Ala) c.3277A>G (p.Thr1093Ala) c.3274A>G (p.Thr1092Ala) c.3136A>G (p.Thr1046Ala) c.2809A>G (p.Thr937Ala) c.2806A>G (p.Thr936Ala) c.2905A>G (p.Thr969Ala) c.*2833A>G (n.*2833A>G) c.2106+182242A>G (n.2106+182242A>G) c.555A>G | |
3 | g.184326949A>T | CA355413427 | EIF2B5,EIF4G1 | c.3394A>T (p.Thr1132Ser) c.3328A>T (p.Thr1110Ser) c.2741A>T (n.2741A>T) c.2800A>T (p.Thr934Ser) c.3397A>T (p.Thr1133Ser) c.2902A>T (p.Thr968Ser) c.3415A>T (p.Thr1139Ser) c.3133A>T (p.Thr1045Ser) c.3277A>T (p.Thr1093Ser) c.3274A>T (p.Thr1092Ser) c.3136A>T (p.Thr1046Ser) c.2809A>T (p.Thr937Ser) c.2806A>T (p.Thr936Ser) c.2905A>T (p.Thr969Ser) c.*2833A>T (n.*2833A>T) c.2106+182242A>T (n.2106+182242A>T) c.555A>T | |
3 | g.184326950C>A | CA355413441 | EIF2B5,EIF4G1 | c.3395C>A (p.Thr1132Lys) c.3329C>A (p.Thr1110Lys) c.2742C>A (n.2742C>A) c.2801C>A (p.Thr934Lys) c.3398C>A (p.Thr1133Lys) c.2903C>A (p.Thr968Lys) c.3416C>A (p.Thr1139Lys) c.3134C>A (p.Thr1045Lys) c.3278C>A (p.Thr1093Lys) c.3275C>A (p.Thr1092Lys) c.3137C>A (p.Thr1046Lys) c.2810C>A (p.Thr937Lys) c.2807C>A (p.Thr936Lys) c.2906C>A (p.Thr969Lys) c.*2834C>A (n.*2834C>A) c.2106+182243C>A (n.2106+182243C>A) c.556C>A | |
3 | g.184326950C>G | CA355413446 | EIF2B5,EIF4G1 | c.3395C>G (p.Thr1132Arg) c.3329C>G (p.Thr1110Arg) c.2742C>G (n.2742C>G) c.2801C>G (p.Thr934Arg) c.3398C>G (p.Thr1133Arg) c.2903C>G (p.Thr968Arg) c.3416C>G (p.Thr1139Arg) c.3134C>G (p.Thr1045Arg) c.3278C>G (p.Thr1093Arg) c.3275C>G (p.Thr1092Arg) c.3137C>G (p.Thr1046Arg) c.2810C>G (p.Thr937Arg) c.2807C>G (p.Thr936Arg) c.2906C>G (p.Thr969Arg) c.*2834C>G (n.*2834C>G) c.2106+182243C>G (n.2106+182243C>G) c.556C>G | |
3 | g.184326950C>T | CA355413442 | EIF2B5,EIF4G1 | c.3395C>T (p.Thr1132Ile) c.3329C>T (p.Thr1110Ile) c.2742C>T (n.2742C>T) c.2801C>T (p.Thr934Ile) c.3398C>T (p.Thr1133Ile) c.2903C>T (p.Thr968Ile) c.3416C>T (p.Thr1139Ile) c.3134C>T (p.Thr1045Ile) c.3278C>T (p.Thr1093Ile) c.3275C>T (p.Thr1092Ile) c.3137C>T (p.Thr1046Ile) c.2810C>T (p.Thr937Ile) c.2807C>T (p.Thr936Ile) c.2906C>T (p.Thr969Ile) c.*2834C>T (n.*2834C>T) c.2106+182243C>T (n.2106+182243C>T) c.556C>T | |
3 | g.184326951A= | CA1425957815 | EIF2B5,EIF4G1 | c.3396A= (p.Thr1132=) c.3330A= (p.Thr1110=) c.2743A= (n.2743A=) c.2802A= (p.Thr934=) c.3399A= (p.Thr1133=) c.2904A= (p.Thr968=) c.3417A= (p.Thr1139=) c.3135A= (p.Thr1045=) c.3279A= (p.Thr1093=) c.3276A= (p.Thr1092=) c.3138A= (p.Thr1046=) c.2811A= (p.Thr937=) c.2808A= (p.Thr936=) c.2907A= (p.Thr969=) c.*2835A= (n.*2835A=) c.2106+182244A= (n.2106+182244A=) c.557A= | |
3 | g.184326951A>C | CA437162135 | EIF2B5,EIF4G1 | c.3396A>C (p.Thr1132=) c.3330A>C (p.Thr1110=) c.2743A>C (n.2743A>C) c.2802A>C (p.Thr934=) c.3399A>C (p.Thr1133=) c.2904A>C (p.Thr968=) c.3417A>C (p.Thr1139=) c.3135A>C (p.Thr1045=) c.3279A>C (p.Thr1093=) c.3276A>C (p.Thr1092=) c.3138A>C (p.Thr1046=) c.2811A>C (p.Thr937=) c.2808A>C (p.Thr936=) c.2907A>C (p.Thr969=) c.*2835A>C (n.*2835A>C) c.2106+182244A>C (n.2106+182244A>C) c.557A>C | |
3 | g.184326951A>G | CA437162136 | EIF2B5,EIF4G1 | c.3396A>G (p.Thr1132=) c.3330A>G (p.Thr1110=) c.2743A>G (n.2743A>G) c.2802A>G (p.Thr934=) c.3399A>G (p.Thr1133=) c.2904A>G (p.Thr968=) c.3417A>G (p.Thr1139=) c.3135A>G (p.Thr1045=) c.3279A>G (p.Thr1093=) c.3276A>G (p.Thr1092=) c.3138A>G (p.Thr1046=) c.2811A>G (p.Thr937=) c.2808A>G (p.Thr936=) c.2907A>G (p.Thr969=) c.*2835A>G (n.*2835A>G) c.2106+182244A>G (n.2106+182244A>G) c.557A>G | dbSNP gnomAD v4 |
3 | g.184326951A>T | CA437162137 | EIF2B5,EIF4G1 | c.3396A>T (p.Thr1132=) c.3330A>T (p.Thr1110=) c.2743A>T (n.2743A>T) c.2802A>T (p.Thr934=) c.3399A>T (p.Thr1133=) c.2904A>T (p.Thr968=) c.3417A>T (p.Thr1139=) c.3135A>T (p.Thr1045=) c.3279A>T (p.Thr1093=) c.3276A>T (p.Thr1092=) c.3138A>T (p.Thr1046=) c.2811A>T (p.Thr937=) c.2808A>T (p.Thr936=) c.2907A>T (p.Thr969=) c.*2835A>T (n.*2835A>T) c.2106+182244A>T (n.2106+182244A>T) c.557A>T | |
3 | g.184326952G>A | CA355413451 | EIF2B5,EIF4G1 | c.3397G>A (p.Glu1133Lys) c.3331G>A (p.Glu1111Lys) c.2744G>A (n.2744G>A) c.2803G>A (p.Glu935Lys) c.3400G>A (p.Glu1134Lys) c.2905G>A (p.Glu969Lys) c.3418G>A (p.Glu1140Lys) c.3136G>A (p.Glu1046Lys) c.3280G>A (p.Glu1094Lys) c.3277G>A (p.Glu1093Lys) c.3139G>A (p.Glu1047Lys) c.2812G>A (p.Glu938Lys) c.2809G>A (p.Glu937Lys) c.2908G>A (p.Glu970Lys) c.*2836G>A (n.*2836G>A) c.2106+182245G>A (n.2106+182245G>A) c.558G>A | |
3 | g.184326952G>C | CA355413453 | EIF2B5,EIF4G1 | c.3397G>C (p.Glu1133Gln) c.3331G>C (p.Glu1111Gln) c.2744G>C (n.2744G>C) c.2803G>C (p.Glu935Gln) c.3400G>C (p.Glu1134Gln) c.2905G>C (p.Glu969Gln) c.3418G>C (p.Glu1140Gln) c.3136G>C (p.Glu1046Gln) c.3280G>C (p.Glu1094Gln) c.3277G>C (p.Glu1093Gln) c.3139G>C (p.Glu1047Gln) c.2812G>C (p.Glu938Gln) c.2809G>C (p.Glu937Gln) c.2908G>C (p.Glu970Gln) c.*2836G>C (n.*2836G>C) c.2106+182245G>C (n.2106+182245G>C) c.558G>C | |
3 | g.184326952G>T | CA355413456 | EIF2B5,EIF4G1 | c.3397G>T (p.Glu1133Ter) c.3331G>T (p.Glu1111Ter) c.2744G>T (n.2744G>T) c.2803G>T (p.Glu935Ter) c.3400G>T (p.Glu1134Ter) c.2905G>T (p.Glu969Ter) c.3418G>T (p.Glu1140Ter) c.3136G>T (p.Glu1046Ter) c.3280G>T (p.Glu1094Ter) c.3277G>T (p.Glu1093Ter) c.3139G>T (p.Glu1047Ter) c.2812G>T (p.Glu938Ter) c.2809G>T (p.Glu937Ter) c.2908G>T (p.Glu970Ter) c.*2836G>T (n.*2836G>T) c.2106+182245G>T (n.2106+182245G>T) c.558G>T | COSMIC |
3 | g.184326953A>C | CA355413461 | EIF2B5,EIF4G1 | c.3398A>C (p.Glu1133Ala) c.3332A>C (p.Glu1111Ala) c.2745A>C (n.2745A>C) c.2804A>C (p.Glu935Ala) c.3401A>C (p.Glu1134Ala) c.2906A>C (p.Glu969Ala) c.3419A>C (p.Glu1140Ala) c.3137A>C (p.Glu1046Ala) c.3281A>C (p.Glu1094Ala) c.3278A>C (p.Glu1093Ala) c.3140A>C (p.Glu1047Ala) c.2813A>C (p.Glu938Ala) c.2810A>C (p.Glu937Ala) c.2909A>C (p.Glu970Ala) c.*2837A>C (n.*2837A>C) c.2106+182246A>C (n.2106+182246A>C) c.559A>C | |
3 | g.184326953A>G | CA355413464 | EIF2B5,EIF4G1 | c.3398A>G (p.Glu1133Gly) c.3332A>G (p.Glu1111Gly) c.2745A>G (n.2745A>G) c.2804A>G (p.Glu935Gly) c.3401A>G (p.Glu1134Gly) c.2906A>G (p.Glu969Gly) c.3419A>G (p.Glu1140Gly) c.3137A>G (p.Glu1046Gly) c.3281A>G (p.Glu1094Gly) c.3278A>G (p.Glu1093Gly) c.3140A>G (p.Glu1047Gly) c.2813A>G (p.Glu938Gly) c.2810A>G (p.Glu937Gly) c.2909A>G (p.Glu970Gly) c.*2837A>G (n.*2837A>G) c.2106+182246A>G (n.2106+182246A>G) c.559A>G | |
3 | g.184326953A>T | CA355413466 | EIF2B5,EIF4G1 | c.3398A>T (p.Glu1133Val) c.3332A>T (p.Glu1111Val) c.2745A>T (n.2745A>T) c.2804A>T (p.Glu935Val) c.3401A>T (p.Glu1134Val) c.2906A>T (p.Glu969Val) c.3419A>T (p.Glu1140Val) c.3137A>T (p.Glu1046Val) c.3281A>T (p.Glu1094Val) c.3278A>T (p.Glu1093Val) c.3140A>T (p.Glu1047Val) c.2813A>T (p.Glu938Val) c.2810A>T (p.Glu937Val) c.2909A>T (p.Glu970Val) c.*2837A>T (n.*2837A>T) c.2106+182246A>T (n.2106+182246A>T) c.559A>T | |
3 | g.184326954A>C | CA355413471 | EIF2B5,EIF4G1 | c.3399A>C (p.Glu1133Asp) c.3333A>C (p.Glu1111Asp) c.2746A>C (n.2746A>C) c.2805A>C (p.Glu935Asp) c.3402A>C (p.Glu1134Asp) c.2907A>C (p.Glu969Asp) c.3420A>C (p.Glu1140Asp) c.3138A>C (p.Glu1046Asp) c.3282A>C (p.Glu1094Asp) c.3279A>C (p.Glu1093Asp) c.3141A>C (p.Glu1047Asp) c.2814A>C (p.Glu938Asp) c.2811A>C (p.Glu937Asp) c.2910A>C (p.Glu970Asp) c.*2838A>C (n.*2838A>C) c.2106+182247A>C (n.2106+182247A>C) c.560A>C | |
3 | g.184326954A>G | CA437162141 | EIF2B5,EIF4G1 | c.3399A>G (p.Glu1133=) c.3333A>G (p.Glu1111=) c.2746A>G (n.2746A>G) c.2805A>G (p.Glu935=) c.3402A>G (p.Glu1134=) c.2907A>G (p.Glu969=) c.3420A>G (p.Glu1140=) c.3138A>G (p.Glu1046=) c.3282A>G (p.Glu1094=) c.3279A>G (p.Glu1093=) c.3141A>G (p.Glu1047=) c.2814A>G (p.Glu938=) c.2811A>G (p.Glu937=) c.2910A>G (p.Glu970=) c.*2838A>G (n.*2838A>G) c.2106+182247A>G (n.2106+182247A>G) c.560A>G | |
3 | g.184326954A>T | CA355413473 | EIF2B5,EIF4G1 | c.3399A>T (p.Glu1133Asp) c.3333A>T (p.Glu1111Asp) c.2746A>T (n.2746A>T) c.2805A>T (p.Glu935Asp) c.3402A>T (p.Glu1134Asp) c.2907A>T (p.Glu969Asp) c.3420A>T (p.Glu1140Asp) c.3138A>T (p.Glu1046Asp) c.3282A>T (p.Glu1094Asp) c.3279A>T (p.Glu1093Asp) c.3141A>T (p.Glu1047Asp) c.2814A>T (p.Glu938Asp) c.2811A>T (p.Glu937Asp) c.2910A>T (p.Glu970Asp) c.*2838A>T (n.*2838A>T) c.2106+182247A>T (n.2106+182247A>T) c.560A>T | |
3 | g.184326955A>C | CA355413478 | EIF2B5,EIF4G1 | c.3400A>C (p.Ser1134Arg) c.3334A>C (p.Ser1112Arg) c.2747A>C (n.2747A>C) c.2806A>C (p.Ser936Arg) c.3403A>C (p.Ser1135Arg) c.2908A>C (p.Ser970Arg) c.3421A>C (p.Ser1141Arg) c.3139A>C (p.Ser1047Arg) c.3283A>C (p.Ser1095Arg) c.3280A>C (p.Ser1094Arg) c.3142A>C (p.Ser1048Arg) c.2815A>C (p.Ser939Arg) c.2812A>C (p.Ser938Arg) c.2911A>C (p.Ser971Arg) c.*2839A>C (n.*2839A>C) c.2106+182248A>C (n.2106+182248A>C) c.561A>C | |
3 | g.184326955A>G | CA355413480 | EIF2B5,EIF4G1 | c.3400A>G (p.Ser1134Gly) c.3334A>G (p.Ser1112Gly) c.2747A>G (n.2747A>G) c.2806A>G (p.Ser936Gly) c.3403A>G (p.Ser1135Gly) c.2908A>G (p.Ser970Gly) c.3421A>G (p.Ser1141Gly) c.3139A>G (p.Ser1047Gly) c.3283A>G (p.Ser1095Gly) c.3280A>G (p.Ser1094Gly) c.3142A>G (p.Ser1048Gly) c.2815A>G (p.Ser939Gly) c.2812A>G (p.Ser938Gly) c.2911A>G (p.Ser971Gly) c.*2839A>G (n.*2839A>G) c.2106+182248A>G (n.2106+182248A>G) c.561A>G | |
3 | g.184326955A>T | CA355413483 | EIF2B5,EIF4G1 | c.3400A>T (p.Ser1134Cys) c.3334A>T (p.Ser1112Cys) c.2747A>T (n.2747A>T) c.2806A>T (p.Ser936Cys) c.3403A>T (p.Ser1135Cys) c.2908A>T (p.Ser970Cys) c.3421A>T (p.Ser1141Cys) c.3139A>T (p.Ser1047Cys) c.3283A>T (p.Ser1095Cys) c.3280A>T (p.Ser1094Cys) c.3142A>T (p.Ser1048Cys) c.2815A>T (p.Ser939Cys) c.2812A>T (p.Ser938Cys) c.2911A>T (p.Ser971Cys) c.*2839A>T (n.*2839A>T) c.2106+182248A>T (n.2106+182248A>T) c.561A>T | |
3 | g.184326956G>A | CA355413487 | EIF2B5,EIF4G1 | c.3401G>A (p.Ser1134Asn) c.3335G>A (p.Ser1112Asn) c.2748G>A (n.2748G>A) c.2807G>A (p.Ser936Asn) c.3404G>A (p.Ser1135Asn) c.2909G>A (p.Ser970Asn) c.3422G>A (p.Ser1141Asn) c.3140G>A (p.Ser1047Asn) c.3284G>A (p.Ser1095Asn) c.3281G>A (p.Ser1094Asn) c.3143G>A (p.Ser1048Asn) c.2816G>A (p.Ser939Asn) c.2813G>A (p.Ser938Asn) c.2912G>A (p.Ser971Asn) c.*2840G>A (n.*2840G>A) c.2106+182249G>A (n.2106+182249G>A) c.562G>A | |
3 | g.184326956G>C | CA355413490 | EIF2B5,EIF4G1 | c.3401G>C (p.Ser1134Thr) c.3335G>C (p.Ser1112Thr) c.2748G>C (n.2748G>C) c.2807G>C (p.Ser936Thr) c.3404G>C (p.Ser1135Thr) c.2909G>C (p.Ser970Thr) c.3422G>C (p.Ser1141Thr) c.3140G>C (p.Ser1047Thr) c.3284G>C (p.Ser1095Thr) c.3281G>C (p.Ser1094Thr) c.3143G>C (p.Ser1048Thr) c.2816G>C (p.Ser939Thr) c.2813G>C (p.Ser938Thr) c.2912G>C (p.Ser971Thr) c.*2840G>C (n.*2840G>C) c.2106+182249G>C (n.2106+182249G>C) c.562G>C | |
3 | g.184326956G>T | CA355413492 | EIF2B5,EIF4G1 | c.3401G>T (p.Ser1134Ile) c.3335G>T (p.Ser1112Ile) c.2748G>T (n.2748G>T) c.2807G>T (p.Ser936Ile) c.3404G>T (p.Ser1135Ile) c.2909G>T (p.Ser970Ile) c.3422G>T (p.Ser1141Ile) c.3140G>T (p.Ser1047Ile) c.3284G>T (p.Ser1095Ile) c.3281G>T (p.Ser1094Ile) c.3143G>T (p.Ser1048Ile) c.2816G>T (p.Ser939Ile) c.2813G>T (p.Ser938Ile) c.2912G>T (p.Ser971Ile) c.*2840G>T (n.*2840G>T) c.2106+182249G>T (n.2106+182249G>T) c.562G>T | |
3 | g.184326957C>A | CA355413497 | EIF2B5,EIF4G1 | c.3402C>A (p.Ser1134Arg) c.3336C>A (p.Ser1112Arg) c.2749C>A (n.2749C>A) c.2808C>A (p.Ser936Arg) c.3405C>A (p.Ser1135Arg) c.2910C>A (p.Ser970Arg) c.3423C>A (p.Ser1141Arg) c.3141C>A (p.Ser1047Arg) c.3285C>A (p.Ser1095Arg) c.3282C>A (p.Ser1094Arg) c.3144C>A (p.Ser1048Arg) c.2817C>A (p.Ser939Arg) c.2814C>A (p.Ser938Arg) c.2913C>A (p.Ser971Arg) c.*2841C>A (n.*2841C>A) c.2106+182250C>A (n.2106+182250C>A) c.563C>A | |
3 | g.184326957C>G | CA355413499 | EIF2B5,EIF4G1 | c.3402C>G (p.Ser1134Arg) c.3336C>G (p.Ser1112Arg) c.2749C>G (n.2749C>G) c.2808C>G (p.Ser936Arg) c.3405C>G (p.Ser1135Arg) c.2910C>G (p.Ser970Arg) c.3423C>G (p.Ser1141Arg) c.3141C>G (p.Ser1047Arg) c.3285C>G (p.Ser1095Arg) c.3282C>G (p.Ser1094Arg) c.3144C>G (p.Ser1048Arg) c.2817C>G (p.Ser939Arg) c.2814C>G (p.Ser938Arg) c.2913C>G (p.Ser971Arg) c.*2841C>G (n.*2841C>G) c.2106+182250C>G (n.2106+182250C>G) c.563C>G | |
3 | g.184326957C>T | CA437162143 | EIF2B5,EIF4G1 | c.3402C>T (p.Ser1134=) c.3336C>T (p.Ser1112=) c.2749C>T (n.2749C>T) c.2808C>T (p.Ser936=) c.3405C>T (p.Ser1135=) c.2910C>T (p.Ser970=) c.3423C>T (p.Ser1141=) c.3141C>T (p.Ser1047=) c.3285C>T (p.Ser1095=) c.3282C>T (p.Ser1094=) c.3144C>T (p.Ser1048=) c.2817C>T (p.Ser939=) c.2814C>T (p.Ser938=) c.2913C>T (p.Ser971=) c.*2841C>T (n.*2841C>T) c.2106+182250C>T (n.2106+182250C>T) c.563C>T | COSMIC |
3 | g.184326958A= | CA1425957817 | EIF2B5,EIF4G1 | c.3403A= (p.Thr1135=) c.3337A= (p.Thr1113=) c.2750A= (n.2750A=) c.2809A= (p.Thr937=) c.3406A= (p.Thr1136=) c.2911A= (p.Thr971=) c.3424A= (p.Thr1142=) c.3142A= (p.Thr1048=) c.3286A= (p.Thr1096=) c.3283A= (p.Thr1095=) c.3145A= (p.Thr1049=) c.2818A= (p.Thr940=) c.2815A= (p.Thr939=) c.2914A= (p.Thr972=) c.*2842A= (n.*2842A=) c.2106+182251A= (n.2106+182251A=) c.564A= | |
3 | g.184326958A>C | CA355413502 | EIF2B5,EIF4G1 | c.3403A>C (p.Thr1135Pro) c.3337A>C (p.Thr1113Pro) c.2750A>C (n.2750A>C) c.2809A>C (p.Thr937Pro) c.3406A>C (p.Thr1136Pro) c.2911A>C (p.Thr971Pro) c.3424A>C (p.Thr1142Pro) c.3142A>C (p.Thr1048Pro) c.3286A>C (p.Thr1096Pro) c.3283A>C (p.Thr1095Pro) c.3145A>C (p.Thr1049Pro) c.2818A>C (p.Thr940Pro) c.2815A>C (p.Thr939Pro) c.2914A>C (p.Thr972Pro) c.*2842A>C (n.*2842A>C) c.2106+182251A>C (n.2106+182251A>C) c.564A>C | |
3 | g.184326958A>G | CA2732777 | EIF2B5,EIF4G1 | c.3403A>G (p.Thr1135Ala) c.3337A>G (p.Thr1113Ala) c.2750A>G (n.2750A>G) c.2809A>G (p.Thr937Ala) c.3406A>G (p.Thr1136Ala) c.2911A>G (p.Thr971Ala) c.3424A>G (p.Thr1142Ala) c.3142A>G (p.Thr1048Ala) c.3286A>G (p.Thr1096Ala) c.3283A>G (p.Thr1095Ala) c.3145A>G (p.Thr1049Ala) c.2818A>G (p.Thr940Ala) c.2815A>G (p.Thr939Ala) c.2914A>G (p.Thr972Ala) c.*2842A>G (n.*2842A>G) c.2106+182251A>G (n.2106+182251A>G) c.564A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184326958A>T | CA355413509 | EIF2B5,EIF4G1 | c.3403A>T (p.Thr1135Ser) c.3337A>T (p.Thr1113Ser) c.2750A>T (n.2750A>T) c.2809A>T (p.Thr937Ser) c.3406A>T (p.Thr1136Ser) c.2911A>T (p.Thr971Ser) c.3424A>T (p.Thr1142Ser) c.3142A>T (p.Thr1048Ser) c.3286A>T (p.Thr1096Ser) c.3283A>T (p.Thr1095Ser) c.3145A>T (p.Thr1049Ser) c.2818A>T (p.Thr940Ser) c.2815A>T (p.Thr939Ser) c.2914A>T (p.Thr972Ser) c.*2842A>T (n.*2842A>T) c.2106+182251A>T (n.2106+182251A>T) c.564A>T | |
3 | g.184326959C>A | CA355413513 | EIF2B5,EIF4G1 | c.3404C>A (p.Thr1135Lys) c.3338C>A (p.Thr1113Lys) c.2751C>A (n.2751C>A) c.2810C>A (p.Thr937Lys) c.3407C>A (p.Thr1136Lys) c.2912C>A (p.Thr971Lys) c.3425C>A (p.Thr1142Lys) c.3143C>A (p.Thr1048Lys) c.3287C>A (p.Thr1096Lys) c.3284C>A (p.Thr1095Lys) c.3146C>A (p.Thr1049Lys) c.2819C>A (p.Thr940Lys) c.2816C>A (p.Thr939Lys) c.2915C>A (p.Thr972Lys) c.*2843C>A (n.*2843C>A) c.2106+182252C>A (n.2106+182252C>A) c.565C>A | |
3 | g.184326959C>G | CA355413514 | EIF2B5,EIF4G1 | c.3404C>G (p.Thr1135Arg) c.3338C>G (p.Thr1113Arg) c.2751C>G (n.2751C>G) c.2810C>G (p.Thr937Arg) c.3407C>G (p.Thr1136Arg) c.2912C>G (p.Thr971Arg) c.3425C>G (p.Thr1142Arg) c.3143C>G (p.Thr1048Arg) c.3287C>G (p.Thr1096Arg) c.3284C>G (p.Thr1095Arg) c.3146C>G (p.Thr1049Arg) c.2819C>G (p.Thr940Arg) c.2816C>G (p.Thr939Arg) c.2915C>G (p.Thr972Arg) c.*2843C>G (n.*2843C>G) c.2106+182252C>G (n.2106+182252C>G) c.565C>G | |
3 | g.184326959C>T | CA355413520 | EIF2B5,EIF4G1 | c.3404C>T (p.Thr1135Ile) c.3338C>T (p.Thr1113Ile) c.2751C>T (n.2751C>T) c.2810C>T (p.Thr937Ile) c.3407C>T (p.Thr1136Ile) c.2912C>T (p.Thr971Ile) c.3425C>T (p.Thr1142Ile) c.3143C>T (p.Thr1048Ile) c.3287C>T (p.Thr1096Ile) c.3284C>T (p.Thr1095Ile) c.3146C>T (p.Thr1049Ile) c.2819C>T (p.Thr940Ile) c.2816C>T (p.Thr939Ile) c.2915C>T (p.Thr972Ile) c.*2843C>T (n.*2843C>T) c.2106+182252C>T (n.2106+182252C>T) c.565C>T | |
3 | g.184326960A= | CA1425957821 | EIF2B5,EIF4G1 | c.3405A= (p.Thr1135=) c.3339A= (p.Thr1113=) c.2752A= (n.2752A=) c.2811A= (p.Thr937=) c.3408A= (p.Thr1136=) c.2913A= (p.Thr971=) c.3426A= (p.Thr1142=) c.3144A= (p.Thr1048=) c.3288A= (p.Thr1096=) c.3285A= (p.Thr1095=) c.3147A= (p.Thr1049=) c.2820A= (p.Thr940=) c.2817A= (p.Thr939=) c.2916A= (p.Thr972=) c.*2844A= (n.*2844A=) c.2106+182253A= (n.2106+182253A=) c.566A= | |
3 | g.184326960A>C | CA437162146 | EIF2B5,EIF4G1 | c.3405A>C (p.Thr1135=) c.3339A>C (p.Thr1113=) c.2752A>C (n.2752A>C) c.2811A>C (p.Thr937=) c.3408A>C (p.Thr1136=) c.2913A>C (p.Thr971=) c.3426A>C (p.Thr1142=) c.3144A>C (p.Thr1048=) c.3288A>C (p.Thr1096=) c.3285A>C (p.Thr1095=) c.3147A>C (p.Thr1049=) c.2820A>C (p.Thr940=) c.2817A>C (p.Thr939=) c.2916A>C (p.Thr972=) c.*2844A>C (n.*2844A>C) c.2106+182253A>C (n.2106+182253A>C) c.566A>C | |
3 | g.184326960A>G | CA437162147 | EIF2B5,EIF4G1 | c.3405A>G (p.Thr1135=) c.3339A>G (p.Thr1113=) c.2752A>G (n.2752A>G) c.2811A>G (p.Thr937=) c.3408A>G (p.Thr1136=) c.2913A>G (p.Thr971=) c.3426A>G (p.Thr1142=) c.3144A>G (p.Thr1048=) c.3288A>G (p.Thr1096=) c.3285A>G (p.Thr1095=) c.3147A>G (p.Thr1049=) c.2820A>G (p.Thr940=) c.2817A>G (p.Thr939=) c.2916A>G (p.Thr972=) c.*2844A>G (n.*2844A>G) c.2106+182253A>G (n.2106+182253A>G) c.566A>G | dbSNP |
3 | g.184326960A>T | CA437162148 | EIF2B5,EIF4G1 | c.3405A>T (p.Thr1135=) c.3339A>T (p.Thr1113=) c.2752A>T (n.2752A>T) c.2811A>T (p.Thr937=) c.3408A>T (p.Thr1136=) c.2913A>T (p.Thr971=) c.3426A>T (p.Thr1142=) c.3144A>T (p.Thr1048=) c.3288A>T (p.Thr1096=) c.3285A>T (p.Thr1095=) c.3147A>T (p.Thr1049=) c.2820A>T (p.Thr940=) c.2817A>T (p.Thr939=) c.2916A>T (p.Thr972=) c.*2844A>T (n.*2844A>T) c.2106+182253A>T (n.2106+182253A>T) c.566A>T | |
3 | g.184326961G>A | CA355413523 | EIF2B5,EIF4G1 | c.3406G>A (p.Asp1136Asn) c.3340G>A (p.Asp1114Asn) c.2753G>A (n.2753G>A) c.2812G>A (p.Asp938Asn) c.3409G>A (p.Asp1137Asn) c.2914G>A (p.Asp972Asn) c.3427G>A (p.Asp1143Asn) c.3145G>A (p.Asp1049Asn) c.3289G>A (p.Asp1097Asn) c.3286G>A (p.Asp1096Asn) c.3148G>A (p.Asp1050Asn) c.2821G>A (p.Asp941Asn) c.2818G>A (p.Asp940Asn) c.2917G>A (p.Asp973Asn) c.*2845G>A (n.*2845G>A) c.2106+182254G>A (n.2106+182254G>A) c.567G>A | |
3 | g.184326961G>C | CA2732778 | EIF2B5,EIF4G1 | c.3406G>C (p.Asp1136His) c.3340G>C (p.Asp1114His) c.2753G>C (n.2753G>C) c.2812G>C (p.Asp938His) c.3409G>C (p.Asp1137His) c.2914G>C (p.Asp972His) c.3427G>C (p.Asp1143His) c.3145G>C (p.Asp1049His) c.3289G>C (p.Asp1097His) c.3286G>C (p.Asp1096His) c.3148G>C (p.Asp1050His) c.2821G>C (p.Asp941His) c.2818G>C (p.Asp940His) c.2917G>C (p.Asp973His) c.*2845G>C (n.*2845G>C) c.2106+182254G>C (n.2106+182254G>C) c.567G>C | dbSNP ExAC gnomAD v2 |
3 | g.184326961G= | CA1425957826 | EIF2B5,EIF4G1 | c.3406G= (p.Asp1136=) c.3340G= (p.Asp1114=) c.2753G= (n.2753G=) c.2812G= (p.Asp938=) c.3409G= (p.Asp1137=) c.2914G= (p.Asp972=) c.3427G= (p.Asp1143=) c.3145G= (p.Asp1049=) c.3289G= (p.Asp1097=) c.3286G= (p.Asp1096=) c.3148G= (p.Asp1050=) c.2821G= (p.Asp941=) c.2818G= (p.Asp940=) c.2917G= (p.Asp973=) c.*2845G= (n.*2845G=) c.2106+182254G= (n.2106+182254G=) c.567G= | |
3 | g.184326961G>T | CA355413532 | EIF2B5,EIF4G1 | c.3406G>T (p.Asp1136Tyr) c.3340G>T (p.Asp1114Tyr) c.2753G>T (n.2753G>T) c.2812G>T (p.Asp938Tyr) c.3409G>T (p.Asp1137Tyr) c.2914G>T (p.Asp972Tyr) c.3427G>T (p.Asp1143Tyr) c.3145G>T (p.Asp1049Tyr) c.3289G>T (p.Asp1097Tyr) c.3286G>T (p.Asp1096Tyr) c.3148G>T (p.Asp1050Tyr) c.2821G>T (p.Asp941Tyr) c.2818G>T (p.Asp940Tyr) c.2917G>T (p.Asp973Tyr) c.*2845G>T (n.*2845G>T) c.2106+182254G>T (n.2106+182254G>T) c.567G>T | |
3 | g.184326962A>C | CA355413536 | EIF2B5,EIF4G1 | c.3407A>C (p.Asp1136Ala) c.3341A>C (p.Asp1114Ala) c.2754A>C (n.2754A>C) c.2813A>C (p.Asp938Ala) c.3410A>C (p.Asp1137Ala) c.2915A>C (p.Asp972Ala) c.3428A>C (p.Asp1143Ala) c.3146A>C (p.Asp1049Ala) c.3290A>C (p.Asp1097Ala) c.3287A>C (p.Asp1096Ala) c.3149A>C (p.Asp1050Ala) c.2822A>C (p.Asp941Ala) c.2819A>C (p.Asp940Ala) c.2918A>C (p.Asp973Ala) c.*2846A>C (n.*2846A>C) c.2106+182255A>C (n.2106+182255A>C) c.568A>C | |
3 | g.184326962A>G | CA355413540 | EIF2B5,EIF4G1 | c.3407A>G (p.Asp1136Gly) c.3341A>G (p.Asp1114Gly) c.2754A>G (n.2754A>G) c.2813A>G (p.Asp938Gly) c.3410A>G (p.Asp1137Gly) c.2915A>G (p.Asp972Gly) c.3428A>G (p.Asp1143Gly) c.3146A>G (p.Asp1049Gly) c.3290A>G (p.Asp1097Gly) c.3287A>G (p.Asp1096Gly) c.3149A>G (p.Asp1050Gly) c.2822A>G (p.Asp941Gly) c.2819A>G (p.Asp940Gly) c.2918A>G (p.Asp973Gly) c.*2846A>G (n.*2846A>G) c.2106+182255A>G (n.2106+182255A>G) c.568A>G | |
3 | g.184326962A>T | CA355413547 | EIF2B5,EIF4G1 | c.3407A>T (p.Asp1136Val) c.3341A>T (p.Asp1114Val) c.2754A>T (n.2754A>T) c.2813A>T (p.Asp938Val) c.3410A>T (p.Asp1137Val) c.2915A>T (p.Asp972Val) c.3428A>T (p.Asp1143Val) c.3146A>T (p.Asp1049Val) c.3290A>T (p.Asp1097Val) c.3287A>T (p.Asp1096Val) c.3149A>T (p.Asp1050Val) c.2822A>T (p.Asp941Val) c.2819A>T (p.Asp940Val) c.2918A>T (p.Asp973Val) c.*2846A>T (n.*2846A>T) c.2106+182255A>T (n.2106+182255A>T) c.568A>T | |
3 | g.184326963T>A | CA355413550 | EIF2B5,EIF4G1 | c.3408T>A (p.Asp1136Glu) c.3342T>A (p.Asp1114Glu) c.2755T>A (n.2755T>A) c.2814T>A (p.Asp938Glu) c.3411T>A (p.Asp1137Glu) c.2916T>A (p.Asp972Glu) c.3429T>A (p.Asp1143Glu) c.3147T>A (p.Asp1049Glu) c.3291T>A (p.Asp1097Glu) c.3288T>A (p.Asp1096Glu) c.3150T>A (p.Asp1050Glu) c.2823T>A (p.Asp941Glu) c.2820T>A (p.Asp940Glu) c.2919T>A (p.Asp973Glu) c.*2847T>A (n.*2847T>A) c.2106+182256T>A (n.2106+182256T>A) c.569T>A | |
3 | g.184326963T>C | CA437162151 | EIF2B5,EIF4G1 | c.3408T>C (p.Asp1136=) c.3342T>C (p.Asp1114=) c.2755T>C (n.2755T>C) c.2814T>C (p.Asp938=) c.3411T>C (p.Asp1137=) c.2916T>C (p.Asp972=) c.3429T>C (p.Asp1143=) c.3147T>C (p.Asp1049=) c.3291T>C (p.Asp1097=) c.3288T>C (p.Asp1096=) c.3150T>C (p.Asp1050=) c.2823T>C (p.Asp941=) c.2820T>C (p.Asp940=) c.2919T>C (p.Asp973=) c.*2847T>C (n.*2847T>C) c.2106+182256T>C (n.2106+182256T>C) c.569T>C | |
3 | g.184326963T>G | CA355413553 | EIF2B5,EIF4G1 | c.3408T>G (p.Asp1136Glu) c.3342T>G (p.Asp1114Glu) c.2755T>G (n.2755T>G) c.2814T>G (p.Asp938Glu) c.3411T>G (p.Asp1137Glu) c.2916T>G (p.Asp972Glu) c.3429T>G (p.Asp1143Glu) c.3147T>G (p.Asp1049Glu) c.3291T>G (p.Asp1097Glu) c.3288T>G (p.Asp1096Glu) c.3150T>G (p.Asp1050Glu) c.2823T>G (p.Asp941Glu) c.2820T>G (p.Asp940Glu) c.2919T>G (p.Asp973Glu) c.*2847T>G (n.*2847T>G) c.2106+182256T>G (n.2106+182256T>G) c.569T>G | |
3 | g.184326964A>C | CA355413557 | EIF2B5,EIF4G1 | c.3409A>C (p.Asn1137His) c.3343A>C (p.Asn1115His) c.2756A>C (n.2756A>C) c.2815A>C (p.Asn939His) c.3412A>C (p.Asn1138His) c.2917A>C (p.Asn973His) c.3430A>C (p.Asn1144His) c.3148A>C (p.Asn1050His) c.3292A>C (p.Asn1098His) c.3289A>C (p.Asn1097His) c.3151A>C (p.Asn1051His) c.2824A>C (p.Asn942His) c.2821A>C (p.Asn941His) c.2920A>C (p.Asn974His) c.*2848A>C (n.*2848A>C) c.2106+182257A>C (n.2106+182257A>C) c.570A>C | gnomAD v4 |
3 | g.184326964A>G | CA355413558 | EIF2B5,EIF4G1 | c.3409A>G (p.Asn1137Asp) c.3343A>G (p.Asn1115Asp) c.2756A>G (n.2756A>G) c.2815A>G (p.Asn939Asp) c.3412A>G (p.Asn1138Asp) c.2917A>G (p.Asn973Asp) c.3430A>G (p.Asn1144Asp) c.3148A>G (p.Asn1050Asp) c.3292A>G (p.Asn1098Asp) c.3289A>G (p.Asn1097Asp) c.3151A>G (p.Asn1051Asp) c.2824A>G (p.Asn942Asp) c.2821A>G (p.Asn941Asp) c.2920A>G (p.Asn974Asp) c.*2848A>G (n.*2848A>G) c.2106+182257A>G (n.2106+182257A>G) c.570A>G | gnomAD v4 |
3 | g.184326964A>T | CA355413559 | EIF2B5,EIF4G1 | c.3409A>T (p.Asn1137Tyr) c.3343A>T (p.Asn1115Tyr) c.2756A>T (n.2756A>T) c.2815A>T (p.Asn939Tyr) c.3412A>T (p.Asn1138Tyr) c.2917A>T (p.Asn973Tyr) c.3430A>T (p.Asn1144Tyr) c.3148A>T (p.Asn1050Tyr) c.3292A>T (p.Asn1098Tyr) c.3289A>T (p.Asn1097Tyr) c.3151A>T (p.Asn1051Tyr) c.2824A>T (p.Asn942Tyr) c.2821A>T (p.Asn941Tyr) c.2920A>T (p.Asn974Tyr) c.*2848A>T (n.*2848A>T) c.2106+182257A>T (n.2106+182257A>T) c.570A>T | |
3 | g.184326965A>C | CA355413560 | EIF2B5,EIF4G1 | c.3410A>C (p.Asn1137Thr) c.3344A>C (p.Asn1115Thr) c.2757A>C (n.2757A>C) c.2816A>C (p.Asn939Thr) c.3413A>C (p.Asn1138Thr) c.2918A>C (p.Asn973Thr) c.3431A>C (p.Asn1144Thr) c.3149A>C (p.Asn1050Thr) c.3293A>C (p.Asn1098Thr) c.3290A>C (p.Asn1097Thr) c.3152A>C (p.Asn1051Thr) c.2825A>C (p.Asn942Thr) c.2822A>C (p.Asn941Thr) c.2921A>C (p.Asn974Thr) c.*2849A>C (n.*2849A>C) c.2106+182258A>C (n.2106+182258A>C) c.571A>C | |
3 | g.184326965A>G | CA355413562 | EIF2B5,EIF4G1 | c.3410A>G (p.Asn1137Ser) c.3344A>G (p.Asn1115Ser) c.2757A>G (n.2757A>G) c.2816A>G (p.Asn939Ser) c.3413A>G (p.Asn1138Ser) c.2918A>G (p.Asn973Ser) c.3431A>G (p.Asn1144Ser) c.3149A>G (p.Asn1050Ser) c.3293A>G (p.Asn1098Ser) c.3290A>G (p.Asn1097Ser) c.3152A>G (p.Asn1051Ser) c.2825A>G (p.Asn942Ser) c.2822A>G (p.Asn941Ser) c.2921A>G (p.Asn974Ser) c.*2849A>G (n.*2849A>G) c.2106+182258A>G (n.2106+182258A>G) c.571A>G | |
3 | g.184326965A>T | CA355413564 | EIF2B5,EIF4G1 | c.3410A>T (p.Asn1137Ile) c.3344A>T (p.Asn1115Ile) c.2757A>T (n.2757A>T) c.2816A>T (p.Asn939Ile) c.3413A>T (p.Asn1138Ile) c.2918A>T (p.Asn973Ile) c.3431A>T (p.Asn1144Ile) c.3149A>T (p.Asn1050Ile) c.3293A>T (p.Asn1098Ile) c.3290A>T (p.Asn1097Ile) c.3152A>T (p.Asn1051Ile) c.2825A>T (p.Asn942Ile) c.2822A>T (p.Asn941Ile) c.2921A>T (p.Asn974Ile) c.*2849A>T (n.*2849A>T) c.2106+182258A>T (n.2106+182258A>T) c.571A>T | |
3 | g.184326966T>A | CA355413566 | EIF2B5,EIF4G1 | c.3411T>A (p.Asn1137Lys) c.3345T>A (p.Asn1115Lys) c.2758T>A (n.2758T>A) c.2817T>A (p.Asn939Lys) c.3414T>A (p.Asn1138Lys) c.2919T>A (p.Asn973Lys) c.3432T>A (p.Asn1144Lys) c.3150T>A (p.Asn1050Lys) c.3294T>A (p.Asn1098Lys) c.3291T>A (p.Asn1097Lys) c.3153T>A (p.Asn1051Lys) c.2826T>A (p.Asn942Lys) c.2823T>A (p.Asn941Lys) c.2922T>A (p.Asn974Lys) c.*2850T>A (n.*2850T>A) c.2106+182259T>A (n.2106+182259T>A) c.572T>A | |
3 | g.184326966T>C | CA2732779 | EIF2B5,EIF4G1 | c.3411T>C (p.Asn1137=) c.3345T>C (p.Asn1115=) c.2758T>C (n.2758T>C) c.2817T>C (p.Asn939=) c.3414T>C (p.Asn1138=) c.2919T>C (p.Asn973=) c.3432T>C (p.Asn1144=) c.3150T>C (p.Asn1050=) c.3294T>C (p.Asn1098=) c.3291T>C (p.Asn1097=) c.3153T>C (p.Asn1051=) c.2826T>C (p.Asn942=) c.2823T>C (p.Asn941=) c.2922T>C (p.Asn974=) c.*2850T>C (n.*2850T>C) c.2106+182259T>C (n.2106+182259T>C) c.572T>C | dbSNP ExAC |
3 | g.184326966T>G | CA355413569 | EIF2B5,EIF4G1 | c.3411T>G (p.Asn1137Lys) c.3345T>G (p.Asn1115Lys) c.2758T>G (n.2758T>G) c.2817T>G (p.Asn939Lys) c.3414T>G (p.Asn1138Lys) c.2919T>G (p.Asn973Lys) c.3432T>G (p.Asn1144Lys) c.3150T>G (p.Asn1050Lys) c.3294T>G (p.Asn1098Lys) c.3291T>G (p.Asn1097Lys) c.3153T>G (p.Asn1051Lys) c.2826T>G (p.Asn942Lys) c.2823T>G (p.Asn941Lys) c.2922T>G (p.Asn974Lys) c.*2850T>G (n.*2850T>G) c.2106+182259T>G (n.2106+182259T>G) c.572T>G | |
3 | g.184326966T= | CA1425957832 | EIF2B5,EIF4G1 | c.3411T= (p.Asn1137=) c.3345T= (p.Asn1115=) c.2758T= (n.2758T=) c.2817T= (p.Asn939=) c.3414T= (p.Asn1138=) c.2919T= (p.Asn973=) c.3432T= (p.Asn1144=) c.3150T= (p.Asn1050=) c.3294T= (p.Asn1098=) c.3291T= (p.Asn1097=) c.3153T= (p.Asn1051=) c.2826T= (p.Asn942=) c.2823T= (p.Asn941=) c.2922T= (p.Asn974=) c.*2850T= (n.*2850T=) c.2106+182259T= (n.2106+182259T=) c.572T= | |
3 | g.184326967A>C | CA437162155 | EIF2B5,EIF4G1 | c.3412A>C (p.Arg1138=) c.3346A>C (p.Arg1116=) c.2759A>C (n.2759A>C) c.2818A>C (p.Arg940=) c.3415A>C (p.Arg1139=) c.2920A>C (p.Arg974=) c.3433A>C (p.Arg1145=) c.3151A>C (p.Arg1051=) c.3295A>C (p.Arg1099=) c.3292A>C (p.Arg1098=) c.3154A>C (p.Arg1052=) c.2827A>C (p.Arg943=) c.2824A>C (p.Arg942=) c.2923A>C (p.Arg975=) c.*2851A>C (n.*2851A>C) c.2106+182260A>C (n.2106+182260A>C) c.573A>C | |
3 | g.184326967A>G | CA355413574 | EIF2B5,EIF4G1 | c.3412A>G (p.Arg1138Gly) c.3346A>G (p.Arg1116Gly) c.2759A>G (n.2759A>G) c.2818A>G (p.Arg940Gly) c.3415A>G (p.Arg1139Gly) c.2920A>G (p.Arg974Gly) c.3433A>G (p.Arg1145Gly) c.3151A>G (p.Arg1051Gly) c.3295A>G (p.Arg1099Gly) c.3292A>G (p.Arg1098Gly) c.3154A>G (p.Arg1052Gly) c.2827A>G (p.Arg943Gly) c.2824A>G (p.Arg942Gly) c.2923A>G (p.Arg975Gly) c.*2851A>G (n.*2851A>G) c.2106+182260A>G (n.2106+182260A>G) c.573A>G | |
3 | g.184326967A>T | CA355413576 | EIF2B5,EIF4G1 | c.3412A>T (p.Arg1138Ter) c.3346A>T (p.Arg1116Ter) c.2759A>T (n.2759A>T) c.2818A>T (p.Arg940Ter) c.3415A>T (p.Arg1139Ter) c.2920A>T (p.Arg974Ter) c.3433A>T (p.Arg1145Ter) c.3151A>T (p.Arg1051Ter) c.3295A>T (p.Arg1099Ter) c.3292A>T (p.Arg1098Ter) c.3154A>T (p.Arg1052Ter) c.2827A>T (p.Arg943Ter) c.2824A>T (p.Arg942Ter) c.2923A>T (p.Arg975Ter) c.*2851A>T (n.*2851A>T) c.2106+182260A>T (n.2106+182260A>T) c.573A>T | |
3 | g.184326968G>A | CA355413581 | EIF2B5,EIF4G1 | c.3413G>A (p.Arg1138Lys) c.3347G>A (p.Arg1116Lys) c.2760G>A (n.2760G>A) c.2819G>A (p.Arg940Lys) c.3416G>A (p.Arg1139Lys) c.2921G>A (p.Arg974Lys) c.3434G>A (p.Arg1145Lys) c.3152G>A (p.Arg1051Lys) c.3296G>A (p.Arg1099Lys) c.3293G>A (p.Arg1098Lys) c.3155G>A (p.Arg1052Lys) c.2828G>A (p.Arg943Lys) c.2825G>A (p.Arg942Lys) c.2924G>A (p.Arg975Lys) c.*2852G>A (n.*2852G>A) c.2106+182261G>A (n.2106+182261G>A) c.574G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326968G>C | CA355413584 | EIF2B5,EIF4G1 | c.3413G>C (p.Arg1138Thr) c.3347G>C (p.Arg1116Thr) c.2760G>C (n.2760G>C) c.2819G>C (p.Arg940Thr) c.3416G>C (p.Arg1139Thr) c.2921G>C (p.Arg974Thr) c.3434G>C (p.Arg1145Thr) c.3152G>C (p.Arg1051Thr) c.3296G>C (p.Arg1099Thr) c.3293G>C (p.Arg1098Thr) c.3155G>C (p.Arg1052Thr) c.2828G>C (p.Arg943Thr) c.2825G>C (p.Arg942Thr) c.2924G>C (p.Arg975Thr) c.*2852G>C (n.*2852G>C) c.2106+182261G>C (n.2106+182261G>C) c.574G>C | |
3 | g.184326968G= | CA1425957834 | EIF2B5,EIF4G1 | c.3413G= (p.Arg1138=) c.3347G= (p.Arg1116=) c.2760G= (n.2760G=) c.2819G= (p.Arg940=) c.3416G= (p.Arg1139=) c.2921G= (p.Arg974=) c.3434G= (p.Arg1145=) c.3152G= (p.Arg1051=) c.3296G= (p.Arg1099=) c.3293G= (p.Arg1098=) c.3155G= (p.Arg1052=) c.2828G= (p.Arg943=) c.2825G= (p.Arg942=) c.2924G= (p.Arg975=) c.*2852G= (n.*2852G=) c.2106+182261G= (n.2106+182261G=) c.574G= | |
3 | g.184326968G>T | CA355413586 | EIF2B5,EIF4G1 | c.3413G>T (p.Arg1138Ile) c.3347G>T (p.Arg1116Ile) c.2760G>T (n.2760G>T) c.2819G>T (p.Arg940Ile) c.3416G>T (p.Arg1139Ile) c.2921G>T (p.Arg974Ile) c.3434G>T (p.Arg1145Ile) c.3152G>T (p.Arg1051Ile) c.3296G>T (p.Arg1099Ile) c.3293G>T (p.Arg1098Ile) c.3155G>T (p.Arg1052Ile) c.2828G>T (p.Arg943Ile) c.2825G>T (p.Arg942Ile) c.2924G>T (p.Arg975Ile) c.*2852G>T (n.*2852G>T) c.2106+182261G>T (n.2106+182261G>T) c.574G>T | |
3 | g.184326969A>C | CA355413591 | EIF2B5,EIF4G1 | c.3414A>C (p.Arg1138Ser) c.3348A>C (p.Arg1116Ser) c.2761A>C (n.2761A>C) c.2820A>C (p.Arg940Ser) c.3417A>C (p.Arg1139Ser) c.2922A>C (p.Arg974Ser) c.3435A>C (p.Arg1145Ser) c.3153A>C (p.Arg1051Ser) c.3297A>C (p.Arg1099Ser) c.3294A>C (p.Arg1098Ser) c.3156A>C (p.Arg1052Ser) c.2829A>C (p.Arg943Ser) c.2826A>C (p.Arg942Ser) c.2925A>C (p.Arg975Ser) c.*2853A>C (n.*2853A>C) c.2106+182262A>C (n.2106+182262A>C) c.575A>C | |
3 | g.184326969A>G | CA437162156 | EIF2B5,EIF4G1 | c.3414A>G (p.Arg1138=) c.3348A>G (p.Arg1116=) c.2761A>G (n.2761A>G) c.2820A>G (p.Arg940=) c.3417A>G (p.Arg1139=) c.2922A>G (p.Arg974=) c.3435A>G (p.Arg1145=) c.3153A>G (p.Arg1051=) c.3297A>G (p.Arg1099=) c.3294A>G (p.Arg1098=) c.3156A>G (p.Arg1052=) c.2829A>G (p.Arg943=) c.2826A>G (p.Arg942=) c.2925A>G (p.Arg975=) c.*2853A>G (n.*2853A>G) c.2106+182262A>G (n.2106+182262A>G) c.575A>G | |
3 | g.184326969A>T | CA355413593 | EIF2B5,EIF4G1 | c.3414A>T (p.Arg1138Ser) c.3348A>T (p.Arg1116Ser) c.2761A>T (n.2761A>T) c.2820A>T (p.Arg940Ser) c.3417A>T (p.Arg1139Ser) c.2922A>T (p.Arg974Ser) c.3435A>T (p.Arg1145Ser) c.3153A>T (p.Arg1051Ser) c.3297A>T (p.Arg1099Ser) c.3294A>T (p.Arg1098Ser) c.3156A>T (p.Arg1052Ser) c.2829A>T (p.Arg943Ser) c.2826A>T (p.Arg942Ser) c.2925A>T (p.Arg975Ser) c.*2853A>T (n.*2853A>T) c.2106+182262A>T (n.2106+182262A>T) c.575A>T | |
3 | g.184326970C>A | CA355413597 | EIF2B5,EIF4G1 | c.3415C>A (p.Arg1139Ser) c.3349C>A (p.Arg1117Ser) c.2762C>A (n.2762C>A) c.2821C>A (p.Arg941Ser) c.3418C>A (p.Arg1140Ser) c.2923C>A (p.Arg975Ser) c.3436C>A (p.Arg1146Ser) c.3154C>A (p.Arg1052Ser) c.3298C>A (p.Arg1100Ser) c.3295C>A (p.Arg1099Ser) c.3157C>A (p.Arg1053Ser) c.2830C>A (p.Arg944Ser) c.2827C>A (p.Arg943Ser) c.2926C>A (p.Arg976Ser) c.*2854C>A (n.*2854C>A) c.2106+182263C>A (n.2106+182263C>A) c.576C>A | |
3 | g.184326970C= | CA1425957837 | EIF2B5,EIF4G1 | c.3415C= (p.Arg1139=) c.3349C= (p.Arg1117=) c.2762C= (n.2762C=) c.2821C= (p.Arg941=) c.3418C= (p.Arg1140=) c.2923C= (p.Arg975=) c.3436C= (p.Arg1146=) c.3154C= (p.Arg1052=) c.3298C= (p.Arg1100=) c.3295C= (p.Arg1099=) c.3157C= (p.Arg1053=) c.2830C= (p.Arg944=) c.2827C= (p.Arg943=) c.2926C= (p.Arg976=) c.*2854C= (n.*2854C=) c.2106+182263C= (n.2106+182263C=) c.576C= | |
3 | g.184326970C>G | CA355413600 | EIF2B5,EIF4G1 | c.3415C>G (p.Arg1139Gly) c.3349C>G (p.Arg1117Gly) c.2762C>G (n.2762C>G) c.2821C>G (p.Arg941Gly) c.3418C>G (p.Arg1140Gly) c.2923C>G (p.Arg975Gly) c.3436C>G (p.Arg1146Gly) c.3154C>G (p.Arg1052Gly) c.3298C>G (p.Arg1100Gly) c.3295C>G (p.Arg1099Gly) c.3157C>G (p.Arg1053Gly) c.2830C>G (p.Arg944Gly) c.2827C>G (p.Arg943Gly) c.2926C>G (p.Arg976Gly) c.*2854C>G (n.*2854C>G) c.2106+182263C>G (n.2106+182263C>G) c.576C>G | |
3 | g.184326970C>T | CA2732780 | EIF2B5,EIF4G1 | c.3415C>T (p.Arg1139Cys) c.3349C>T (p.Arg1117Cys) c.2762C>T (n.2762C>T) c.2821C>T (p.Arg941Cys) c.3418C>T (p.Arg1140Cys) c.2923C>T (p.Arg975Cys) c.3436C>T (p.Arg1146Cys) c.3154C>T (p.Arg1052Cys) c.3298C>T (p.Arg1100Cys) c.3295C>T (p.Arg1099Cys) c.3157C>T (p.Arg1053Cys) c.2830C>T (p.Arg944Cys) c.2827C>T (p.Arg943Cys) c.2926C>T (p.Arg976Cys) c.*2854C>T (n.*2854C>T) c.2106+182263C>T (n.2106+182263C>T) c.576C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326971G>A | CA355413606 | EIF2B5,EIF4G1 | c.3416G>A (p.Arg1139His) c.3350G>A (p.Arg1117His) c.2763G>A (n.2763G>A) c.2822G>A (p.Arg941His) c.3419G>A (p.Arg1140His) c.2924G>A (p.Arg975His) c.3437G>A (p.Arg1146His) c.3155G>A (p.Arg1052His) c.3299G>A (p.Arg1100His) c.3296G>A (p.Arg1099His) c.3158G>A (p.Arg1053His) c.2831G>A (p.Arg944His) c.2828G>A (p.Arg943His) c.2927G>A (p.Arg976His) c.*2855G>A (n.*2855G>A) c.2106+182264G>A (n.2106+182264G>A) c.577G>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184326971G>C | CA355413609 | EIF2B5,EIF4G1 | c.3416G>C (p.Arg1139Pro) c.3350G>C (p.Arg1117Pro) c.2763G>C (n.2763G>C) c.2822G>C (p.Arg941Pro) c.3419G>C (p.Arg1140Pro) c.2924G>C (p.Arg975Pro) c.3437G>C (p.Arg1146Pro) c.3155G>C (p.Arg1052Pro) c.3299G>C (p.Arg1100Pro) c.3296G>C (p.Arg1099Pro) c.3158G>C (p.Arg1053Pro) c.2831G>C (p.Arg944Pro) c.2828G>C (p.Arg943Pro) c.2927G>C (p.Arg976Pro) c.*2855G>C (n.*2855G>C) c.2106+182264G>C (n.2106+182264G>C) c.577G>C | |
3 | g.184326971G= | CA1425957842 | EIF2B5,EIF4G1 | c.3416G= (p.Arg1139=) c.3350G= (p.Arg1117=) c.2763G= (n.2763G=) c.2822G= (p.Arg941=) c.3419G= (p.Arg1140=) c.2924G= (p.Arg975=) c.3437G= (p.Arg1146=) c.3155G= (p.Arg1052=) c.3299G= (p.Arg1100=) c.3296G= (p.Arg1099=) c.3158G= (p.Arg1053=) c.2831G= (p.Arg944=) c.2828G= (p.Arg943=) c.2927G= (p.Arg976=) c.*2855G= (n.*2855G=) c.2106+182264G= (n.2106+182264G=) c.577G= | |
3 | g.184326971G>T | CA355413611 | EIF2B5,EIF4G1 | c.3416G>T (p.Arg1139Leu) c.3350G>T (p.Arg1117Leu) c.2763G>T (n.2763G>T) c.2822G>T (p.Arg941Leu) c.3419G>T (p.Arg1140Leu) c.2924G>T (p.Arg975Leu) c.3437G>T (p.Arg1146Leu) c.3155G>T (p.Arg1052Leu) c.3299G>T (p.Arg1100Leu) c.3296G>T (p.Arg1099Leu) c.3158G>T (p.Arg1053Leu) c.2831G>T (p.Arg944Leu) c.2828G>T (p.Arg943Leu) c.2927G>T (p.Arg976Leu) c.*2855G>T (n.*2855G>T) c.2106+182264G>T (n.2106+182264G>T) c.577G>T | |
3 | g.184326972T>A | CA437162160 | EIF2B5,EIF4G1 | c.3417T>A (p.Arg1139=) c.3351T>A (p.Arg1117=) c.2764T>A (n.2764T>A) c.2823T>A (p.Arg941=) c.3420T>A (p.Arg1140=) c.2925T>A (p.Arg975=) c.3438T>A (p.Arg1146=) c.3156T>A (p.Arg1052=) c.3300T>A (p.Arg1100=) c.3297T>A (p.Arg1099=) c.3159T>A (p.Arg1053=) c.2832T>A (p.Arg944=) c.2829T>A (p.Arg943=) c.2928T>A (p.Arg976=) c.*2856T>A (n.*2856T>A) c.2106+182265T>A (n.2106+182265T>A) c.578T>A | |
3 | g.184326972T>C | CA437162161 | EIF2B5,EIF4G1 | c.3417T>C (p.Arg1139=) c.3351T>C (p.Arg1117=) c.2764T>C (n.2764T>C) c.2823T>C (p.Arg941=) c.3420T>C (p.Arg1140=) c.2925T>C (p.Arg975=) c.3438T>C (p.Arg1146=) c.3156T>C (p.Arg1052=) c.3300T>C (p.Arg1100=) c.3297T>C (p.Arg1099=) c.3159T>C (p.Arg1053=) c.2832T>C (p.Arg944=) c.2829T>C (p.Arg943=) c.2928T>C (p.Arg976=) c.*2856T>C (n.*2856T>C) c.2106+182265T>C (n.2106+182265T>C) c.578T>C | |
3 | g.184326972T>G | CA2732781 | EIF2B5,EIF4G1 | c.3417T>G (p.Arg1139=) c.3351T>G (p.Arg1117=) c.2764T>G (n.2764T>G) c.2823T>G (p.Arg941=) c.3420T>G (p.Arg1140=) c.2925T>G (p.Arg975=) c.3438T>G (p.Arg1146=) c.3156T>G (p.Arg1052=) c.3300T>G (p.Arg1100=) c.3297T>G (p.Arg1099=) c.3159T>G (p.Arg1053=) c.2832T>G (p.Arg944=) c.2829T>G (p.Arg943=) c.2928T>G (p.Arg976=) c.*2856T>G (n.*2856T>G) c.2106+182265T>G (n.2106+182265T>G) c.578T>G | dbSNP ExAC gnomAD v2 |
3 | g.184326972T= | CA1425957846 | EIF2B5,EIF4G1 | c.3417T= (p.Arg1139=) c.3351T= (p.Arg1117=) c.2764T= (n.2764T=) c.2823T= (p.Arg941=) c.3420T= (p.Arg1140=) c.2925T= (p.Arg975=) c.3438T= (p.Arg1146=) c.3156T= (p.Arg1052=) c.3300T= (p.Arg1100=) c.3297T= (p.Arg1099=) c.3159T= (p.Arg1053=) c.2832T= (p.Arg944=) c.2829T= (p.Arg943=) c.2928T= (p.Arg976=) c.*2856T= (n.*2856T=) c.2106+182265T= (n.2106+182265T=) c.578T= | |
3 | g.184326973G>A | CA2732783 | EIF2B5,EIF4G1 | c.3418G>A (p.Val1140Met) c.3352G>A (p.Val1118Met) c.2765G>A (n.2765G>A) c.2824G>A (p.Val942Met) c.3421G>A (p.Val1141Met) c.2926G>A (p.Val976Met) c.3439G>A (p.Val1147Met) c.3157G>A (p.Val1053Met) c.3301G>A (p.Val1101Met) c.3298G>A (p.Val1100Met) c.3160G>A (p.Val1054Met) c.2833G>A (p.Val945Met) c.2830G>A (p.Val944Met) c.2929G>A (p.Val977Met) c.*2857G>A (n.*2857G>A) c.2106+182266G>A (n.2106+182266G>A) c.579G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184326973G>C | CA2732782 | EIF2B5,EIF4G1 | c.3418G>C (p.Val1140Leu) c.3352G>C (p.Val1118Leu) c.2765G>C (n.2765G>C) c.2824G>C (p.Val942Leu) c.3421G>C (p.Val1141Leu) c.2926G>C (p.Val976Leu) c.3439G>C (p.Val1147Leu) c.3157G>C (p.Val1053Leu) c.3301G>C (p.Val1101Leu) c.3298G>C (p.Val1100Leu) c.3160G>C (p.Val1054Leu) c.2833G>C (p.Val945Leu) c.2830G>C (p.Val944Leu) c.2929G>C (p.Val977Leu) c.*2857G>C (n.*2857G>C) c.2106+182266G>C (n.2106+182266G>C) c.579G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184326973G= | CA1425957849 | EIF2B5,EIF4G1 | c.3418G= (p.Val1140=) c.3352G= (p.Val1118=) c.2765G= (n.2765G=) c.2824G= (p.Val942=) c.3421G= (p.Val1141=) c.2926G= (p.Val976=) c.3439G= (p.Val1147=) c.3157G= (p.Val1053=) c.3301G= (p.Val1101=) c.3298G= (p.Val1100=) c.3160G= (p.Val1054=) c.2833G= (p.Val945=) c.2830G= (p.Val944=) c.2929G= (p.Val977=) c.*2857G= (n.*2857G=) c.2106+182266G= (n.2106+182266G=) c.579G= | |
3 | g.184326973G>T | CA355413621 | EIF2B5,EIF4G1 | c.3418G>T (p.Val1140Leu) c.3352G>T (p.Val1118Leu) c.2765G>T (n.2765G>T) c.2824G>T (p.Val942Leu) c.3421G>T (p.Val1141Leu) c.2926G>T (p.Val976Leu) c.3439G>T (p.Val1147Leu) c.3157G>T (p.Val1053Leu) c.3301G>T (p.Val1101Leu) c.3298G>T (p.Val1100Leu) c.3160G>T (p.Val1054Leu) c.2833G>T (p.Val945Leu) c.2830G>T (p.Val944Leu) c.2929G>T (p.Val977Leu) c.*2857G>T (n.*2857G>T) c.2106+182266G>T (n.2106+182266G>T) c.579G>T | |
3 | g.184326974T>A | CA355413625 | EIF2B5,EIF4G1 | c.3419T>A (p.Val1140Glu) c.3353T>A (p.Val1118Glu) c.2766T>A (n.2766T>A) c.2825T>A (p.Val942Glu) c.3422T>A (p.Val1141Glu) c.2927T>A (p.Val976Glu) c.3440T>A (p.Val1147Glu) c.3158T>A (p.Val1053Glu) c.3302T>A (p.Val1101Glu) c.3299T>A (p.Val1100Glu) c.3161T>A (p.Val1054Glu) c.2834T>A (p.Val945Glu) c.2831T>A (p.Val944Glu) c.2930T>A (p.Val977Glu) c.*2858T>A (n.*2858T>A) c.2106+182267T>A (n.2106+182267T>A) c.580T>A | |
3 | g.184326974T>C | CA355413628 | EIF2B5,EIF4G1 | c.3419T>C (p.Val1140Ala) c.3353T>C (p.Val1118Ala) c.2766T>C (n.2766T>C) c.2825T>C (p.Val942Ala) c.3422T>C (p.Val1141Ala) c.2927T>C (p.Val976Ala) c.3440T>C (p.Val1147Ala) c.3158T>C (p.Val1053Ala) c.3302T>C (p.Val1101Ala) c.3299T>C (p.Val1100Ala) c.3161T>C (p.Val1054Ala) c.2834T>C (p.Val945Ala) c.2831T>C (p.Val944Ala) c.2930T>C (p.Val977Ala) c.*2858T>C (n.*2858T>C) c.2106+182267T>C (n.2106+182267T>C) c.580T>C | |
3 | g.184326974T>G | CA355413630 | EIF2B5,EIF4G1 | c.3419T>G (p.Val1140Gly) c.3353T>G (p.Val1118Gly) c.2766T>G (n.2766T>G) c.2825T>G (p.Val942Gly) c.3422T>G (p.Val1141Gly) c.2927T>G (p.Val976Gly) c.3440T>G (p.Val1147Gly) c.3158T>G (p.Val1053Gly) c.3302T>G (p.Val1101Gly) c.3299T>G (p.Val1100Gly) c.3161T>G (p.Val1054Gly) c.2834T>G (p.Val945Gly) c.2831T>G (p.Val944Gly) c.2930T>G (p.Val977Gly) c.*2858T>G (n.*2858T>G) c.2106+182267T>G (n.2106+182267T>G) c.580T>G | |
3 | g.184326975G>A | CA437162163 | EIF2B5,EIF4G1 | c.3420G>A (p.Val1140=) c.3354G>A (p.Val1118=) c.2767G>A (n.2767G>A) c.2826G>A (p.Val942=) c.3423G>A (p.Val1141=) c.2928G>A (p.Val976=) c.3441G>A (p.Val1147=) c.3159G>A (p.Val1053=) c.3303G>A (p.Val1101=) c.3300G>A (p.Val1100=) c.3162G>A (p.Val1054=) c.2835G>A (p.Val945=) c.2832G>A (p.Val944=) c.2931G>A (p.Val977=) c.*2859G>A (n.*2859G>A) c.2106+182268G>A (n.2106+182268G>A) c.581G>A | |
3 | g.184326975G>C | CA437162164 | EIF2B5,EIF4G1 | c.3420G>C (p.Val1140=) c.3354G>C (p.Val1118=) c.2767G>C (n.2767G>C) c.2826G>C (p.Val942=) c.3423G>C (p.Val1141=) c.2928G>C (p.Val976=) c.3441G>C (p.Val1147=) c.3159G>C (p.Val1053=) c.3303G>C (p.Val1101=) c.3300G>C (p.Val1100=) c.3162G>C (p.Val1054=) c.2835G>C (p.Val945=) c.2832G>C (p.Val944=) c.2931G>C (p.Val977=) c.*2859G>C (n.*2859G>C) c.2106+182268G>C (n.2106+182268G>C) c.581G>C | dbSNP |
3 | g.184326975G>T | CA437162165 | EIF2B5,EIF4G1 | c.3420G>T (p.Val1140=) c.3354G>T (p.Val1118=) c.2767G>T (n.2767G>T) c.2826G>T (p.Val942=) c.3423G>T (p.Val1141=) c.2928G>T (p.Val976=) c.3441G>T (p.Val1147=) c.3159G>T (p.Val1053=) c.3303G>T (p.Val1101=) c.3300G>T (p.Val1100=) c.3162G>T (p.Val1054=) c.2835G>T (p.Val945=) c.2832G>T (p.Val944=) c.2931G>T (p.Val977=) c.*2859G>T (n.*2859G>T) c.2106+182268G>T (n.2106+182268G>T) c.581G>T | |
3 | g.184326976del | CA2668839650 | EIF2B5,EIF4G1 | c.3421del (p.Val1141CysfsTer6) c.3355del (p.Val1119CysfsTer6) c.2768del (n.2768del) c.2827del (p.Val943CysfsTer6) c.3424del (p.Val1142CysfsTer6) c.2929del (p.Val977CysfsTer6) c.3442del (p.Val1148CysfsTer6) c.3160del (p.Val1054CysfsTer6) c.3304del (p.Val1102CysfsTer6) c.3301del (p.Val1101CysfsTer6) c.3163del (p.Val1055CysfsTer6) c.2836del (p.Val946CysfsTer6) c.2833del (p.Val945CysfsTer6) c.2932del (p.Val978CysfsTer6) c.*2860del (n.*2860del) c.2106+182269del (n.2106+182269del) c.582del | gnomAD v4 |
3 | g.184326976G>A | CA2732784 | EIF2B5,EIF4G1 | c.3421G>A (p.Val1141Met) c.3355G>A (p.Val1119Met) c.2768G>A (n.2768G>A) c.2827G>A (p.Val943Met) c.3424G>A (p.Val1142Met) c.2929G>A (p.Val977Met) c.3442G>A (p.Val1148Met) c.3160G>A (p.Val1054Met) c.3304G>A (p.Val1102Met) c.3301G>A (p.Val1101Met) c.3163G>A (p.Val1055Met) c.2836G>A (p.Val946Met) c.2833G>A (p.Val945Met) c.2932G>A (p.Val978Met) c.*2860G>A (n.*2860G>A) c.2106+182269G>A (n.2106+182269G>A) c.582G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184326976G>C | CA355413639 | EIF2B5,EIF4G1 | c.3421G>C (p.Val1141Leu) c.3355G>C (p.Val1119Leu) c.2768G>C (n.2768G>C) c.2827G>C (p.Val943Leu) c.3424G>C (p.Val1142Leu) c.2929G>C (p.Val977Leu) c.3442G>C (p.Val1148Leu) c.3160G>C (p.Val1054Leu) c.3304G>C (p.Val1102Leu) c.3301G>C (p.Val1101Leu) c.3163G>C (p.Val1055Leu) c.2836G>C (p.Val946Leu) c.2833G>C (p.Val945Leu) c.2932G>C (p.Val978Leu) c.*2860G>C (n.*2860G>C) c.2106+182269G>C (n.2106+182269G>C) c.582G>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.184326976G= | CA1425957852 | EIF2B5,EIF4G1 | c.3421G= (p.Val1141=) c.3355G= (p.Val1119=) c.2768G= (n.2768G=) c.2827G= (p.Val943=) c.3424G= (p.Val1142=) c.2929G= (p.Val977=) c.3442G= (p.Val1148=) c.3160G= (p.Val1054=) c.3304G= (p.Val1102=) c.3301G= (p.Val1101=) c.3163G= (p.Val1055=) c.2836G= (p.Val946=) c.2833G= (p.Val945=) c.2932G= (p.Val978=) c.*2860G= (n.*2860G=) c.2106+182269G= (n.2106+182269G=) c.582G= | |
3 | g.184326976G>T | CA355413635 | EIF2B5,EIF4G1 | c.3421G>T (p.Val1141Leu) c.3355G>T (p.Val1119Leu) c.2768G>T (n.2768G>T) c.2827G>T (p.Val943Leu) c.3424G>T (p.Val1142Leu) c.2929G>T (p.Val977Leu) c.3442G>T (p.Val1148Leu) c.3160G>T (p.Val1054Leu) c.3304G>T (p.Val1102Leu) c.3301G>T (p.Val1101Leu) c.3163G>T (p.Val1055Leu) c.2836G>T (p.Val946Leu) c.2833G>T (p.Val945Leu) c.2932G>T (p.Val978Leu) c.*2860G>T (n.*2860G>T) c.2106+182269G>T (n.2106+182269G>T) c.582G>T | gnomAD v4 |