| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.184372903T>A | CA355461980 | EIF2B5,THPO | c.1092A>T (p.Gly364=) c.672A>T (p.Gly224=) c.655A>T (p.Ile219Phe) c.556A>T (p.Ile186Phe) c.2106+228196T>A (n.2106+228196T>A) c.660A>T (p.Gly220=) n.243A>T c.964A>T (p.Ile322Phe) | |
| 3 | g.184372903T>C | CA355461981 | EIF2B5,THPO | c.1092A>G (p.Gly364=) c.672A>G (p.Gly224=) c.655A>G (p.Ile219Val) c.556A>G (p.Ile186Val) c.2106+228196T>C (n.2106+228196T>C) c.660A>G (p.Gly220=) n.243A>G c.964A>G (p.Ile322Val) | dbSNP |
| 3 | g.184372903T>G | CA355461982 | EIF2B5,THPO | c.1092A>C (p.Gly364=) c.672A>C (p.Gly224=) c.655A>C (p.Ile219Leu) c.556A>C (p.Ile186Leu) c.2106+228196T>G (n.2106+228196T>G) c.660A>C (p.Gly220=) n.243A>C c.964A>C (p.Ile322Leu) | |
| 3 | g.184372903T= | CA1425997868 | EIF2B5,THPO | c.1092A= (p.Gly364=) c.672A= (p.Gly224=) c.655A= (p.Ile219=) c.556A= (p.Ile186=) c.2106+228196T= (n.2106+228196T=) c.660A= (p.Gly220=) n.243A= c.964A= (p.Ile322=) | |
| 3 | g.184372904C>A | CA355461983 | EIF2B5,THPO | c.1091G>T (p.Gly364Val) c.671G>T (p.Gly224Val) c.654G>T (p.Gly218=) c.555G>T (p.Gly185=) c.2106+228197C>A (n.2106+228197C>A) c.659G>T (p.Gly220Val) n.242G>T c.963G>T (p.Gly321=) | |
| 3 | g.184372904C= | CA1425997869 | EIF2B5,THPO | c.1091G= (p.Gly364=) c.671G= (p.Gly224=) c.654G= (p.Gly218=) c.555G= (p.Gly185=) c.2106+228197C= (n.2106+228197C=) c.659G= (p.Gly220=) n.242G= c.963G= (p.Gly321=) | |
| 3 | g.184372904C>G | CA355461984 | EIF2B5,THPO | c.1091G>C (p.Gly364Ala) c.671G>C (p.Gly224Ala) c.654G>C (p.Gly218=) c.555G>C (p.Gly185=) c.2106+228197C>G (n.2106+228197C>G) c.659G>C (p.Gly220Ala) n.242G>C c.963G>C (p.Gly321=) | |
| 3 | g.184372904C>T | CA10617806 | EIF2B5,THPO | c.1091G>A (p.Gly364Glu) c.671G>A (p.Gly224Glu) c.654G>A (p.Gly218=) c.555G>A (p.Gly185=) c.2106+228197C>T (n.2106+228197C>T) c.659G>A (p.Gly220Glu) n.242G>A c.963G>A (p.Gly321=) | ClinVar dbSNP |
| 3 | g.184372905C>A | CA355461985 | EIF2B5,THPO | c.1090G>T (p.Gly364Ter) c.670G>T (p.Gly224Ter) c.653G>T (p.Gly218Val) c.554G>T (p.Gly185Val) c.2106+228198C>A (n.2106+228198C>A) c.658G>T (p.Gly220Ter) n.241G>T c.962G>T (p.Gly321Val) | |
| 3 | g.184372905C= | CA1425997870 | EIF2B5,THPO | c.1090G= (p.Gly364=) c.670G= (p.Gly224=) c.653G= (p.Gly218=) c.554G= (p.Gly185=) c.2106+228198C= (n.2106+228198C=) c.658G= (p.Gly220=) n.241G= c.962G= (p.Gly321=) | |
| 3 | g.184372905C>G | CA355461986 | EIF2B5,THPO | c.1090G>C (p.Gly364Arg) c.670G>C (p.Gly224Arg) c.653G>C (p.Gly218Ala) c.554G>C (p.Gly185Ala) c.2106+228198C>G (n.2106+228198C>G) c.658G>C (p.Gly220Arg) n.241G>C c.962G>C (p.Gly321Ala) | |
| 3 | g.184372905C>T | CA355461987 | EIF2B5,THPO | c.1090G>A (p.Gly364Arg) c.670G>A (p.Gly224Arg) c.653G>A (p.Gly218Glu) c.554G>A (p.Gly185Glu) c.2106+228198C>T (n.2106+228198C>T) c.658G>A (p.Gly220Arg) n.241G>A c.962G>A (p.Gly321Glu) | dbSNP COSMIC |
| 3 | g.184372906C>A | CA355461988 | EIF2B5,THPO | c.1089G>T (p.Gln363His) c.669G>T (p.Gln223His) c.652G>T (p.Gly218Trp) c.553G>T (p.Gly185Trp) c.2106+228199C>A (n.2106+228199C>A) c.657G>T (p.Gln219His) n.240G>T c.961G>T (p.Gly321Trp) | |
| 3 | g.184372906C>G | CA355461989 | EIF2B5,THPO | c.1089G>C (p.Gln363His) c.669G>C (p.Gln223His) c.652G>C (p.Gly218Arg) c.553G>C (p.Gly185Arg) c.2106+228199C>G (n.2106+228199C>G) c.657G>C (p.Gln219His) n.240G>C c.961G>C (p.Gly321Arg) | |
| 3 | g.184372906C>T | CA355461990 | EIF2B5,THPO | c.1089G>A (p.Gln363=) c.669G>A (p.Gln223=) c.652G>A (p.Gly218Arg) c.553G>A (p.Gly185Arg) c.2106+228199C>T (n.2106+228199C>T) c.657G>A (p.Gln219=) n.240G>A c.961G>A (p.Gly321Arg) | |
| 3 | g.184372907T>A | CA355461991 | EIF2B5,THPO | c.1088A>T (p.Gln363Leu) c.668A>T (p.Gln223Leu) c.651A>T (p.Ala217=) c.552A>T (p.Ala184=) c.2106+228200T>A (n.2106+228200T>A) c.656A>T (p.Gln219Leu) n.239A>T c.960A>T (p.Ala320=) | |
| 3 | g.184372907T>C | CA2734896 | EIF2B5,THPO | c.1088A>G (p.Gln363Arg) c.668A>G (p.Gln223Arg) c.651A>G (p.Ala217=) c.552A>G (p.Ala184=) c.2106+228200T>C (n.2106+228200T>C) c.656A>G (p.Gln219Arg) n.239A>G c.960A>G (p.Ala320=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372907T>G | CA355461992 | EIF2B5,THPO | c.1088A>C (p.Gln363Pro) c.668A>C (p.Gln223Pro) c.651A>C (p.Ala217=) c.552A>C (p.Ala184=) c.2106+228200T>G (n.2106+228200T>G) c.656A>C (p.Gln219Pro) n.239A>C c.960A>C (p.Ala320=) | |
| 3 | g.184372907T= | CA1425997871 | EIF2B5,THPO | c.1088A= (p.Gln363=) c.668A= (p.Gln223=) c.651A= (p.Ala217=) c.552A= (p.Ala184=) c.2106+228200T= (n.2106+228200T=) c.656A= (p.Gln219=) n.239A= c.960A= (p.Ala320=) | |
| 3 | g.184372908G>A | CA355461993 | EIF2B5,THPO | c.1087C>T (p.Gln363Ter) c.667C>T (p.Gln223Ter) c.650C>T (p.Ala217Val) c.551C>T (p.Ala184Val) c.2106+228201G>A (n.2106+228201G>A) c.655C>T (p.Gln219Ter) n.238C>T c.959C>T (p.Ala320Val) | gnomAD v4 |
| 3 | g.184372908G>C | CA355461994 | EIF2B5,THPO | c.1087C>G (p.Gln363Glu) c.667C>G (p.Gln223Glu) c.650C>G (p.Ala217Gly) c.551C>G (p.Ala184Gly) c.2106+228201G>C (n.2106+228201G>C) c.655C>G (p.Gln219Glu) n.238C>G c.959C>G (p.Ala320Gly) | |
| 3 | g.184372908G>T | CA355461995 | EIF2B5,THPO | c.1087C>A (p.Gln363Lys) c.667C>A (p.Gln223Lys) c.650C>A (p.Ala217Glu) c.551C>A (p.Ala184Glu) c.2106+228201G>T (n.2106+228201G>T) c.655C>A (p.Gln219Lys) n.238C>A c.959C>A (p.Ala320Glu) | gnomAD v4 |
| 3 | g.184372909C>A | CA355461996 | EIF2B5,THPO | c.1086G>T (p.Gln362His) c.666G>T (p.Gln222His) c.649G>T (p.Ala217Ser) c.550G>T (p.Ala184Ser) c.2106+228202C>A (n.2106+228202C>A) c.654G>T (p.Gln218His) n.237G>T c.958G>T (p.Ala320Ser) | |
| 3 | g.184372909C>G | CA355461997 | EIF2B5,THPO | c.1086G>C (p.Gln362His) c.666G>C (p.Gln222His) c.649G>C (p.Ala217Pro) c.550G>C (p.Ala184Pro) c.2106+228202C>G (n.2106+228202C>G) c.654G>C (p.Gln218His) n.237G>C c.958G>C (p.Ala320Pro) | |
| 3 | g.184372909C>T | CA355461998 | EIF2B5,THPO | c.1086G>A (p.Gln362=) c.666G>A (p.Gln222=) c.649G>A (p.Ala217Thr) c.550G>A (p.Ala184Thr) c.2106+228202C>T (n.2106+228202C>T) c.654G>A (p.Gln218=) n.237G>A c.958G>A (p.Ala320Thr) | |
| 3 | g.184372910T>A | CA355461999 | EIF2B5,THPO | c.1085A>T (p.Gln362Leu) c.665A>T (p.Gln222Leu) c.648A>T (p.Ala216=) c.549A>T (p.Ala183=) c.2106+228203T>A (n.2106+228203T>A) c.653A>T (p.Gln218Leu) n.236A>T c.957A>T (p.Ala319=) | |
| 3 | g.184372910T>C | CA355462000 | EIF2B5,THPO | c.1085A>G (p.Gln362Arg) c.665A>G (p.Gln222Arg) c.648A>G (p.Ala216=) c.549A>G (p.Ala183=) c.2106+228203T>C (n.2106+228203T>C) c.653A>G (p.Gln218Arg) n.236A>G c.957A>G (p.Ala319=) | |
| 3 | g.184372910T>G | CA355462001 | EIF2B5,THPO | c.1085A>C (p.Gln362Pro) c.665A>C (p.Gln222Pro) c.648A>C (p.Ala216=) c.549A>C (p.Ala183=) c.2106+228203T>G (n.2106+228203T>G) c.653A>C (p.Gln218Pro) n.236A>C c.957A>C (p.Ala319=) | |
| 3 | g.184372911del | CA2541093231 | EIF2B5,THPO | c.1084del (p.Gln362SerfsTer12) c.664del (p.Gln222SerfsTer12) c.647del (p.Ala216GlufsTer?) c.548del (p.Ala183GlufsTer?) c.2106+228204del (n.2106+228204del) c.652del (p.Gln218SerfsTer12) n.235del c.956del (p.Ala319GlufsTer?) | |
| 3 | g.184372911G>A | CA355462004 | EIF2B5,THPO | c.1084C>T (p.Gln362Ter) c.664C>T (p.Gln222Ter) c.647C>T (p.Ala216Val) c.548C>T (p.Ala183Val) c.2106+228204G>A (n.2106+228204G>A) c.652C>T (p.Gln218Ter) n.235C>T c.956C>T (p.Ala319Val) | |
| 3 | g.184372911G>C | CA355462003 | EIF2B5,THPO | c.1084C>G (p.Gln362Glu) c.664C>G (p.Gln222Glu) c.647C>G (p.Ala216Gly) c.548C>G (p.Ala183Gly) c.2106+228204G>C (n.2106+228204G>C) c.652C>G (p.Gln218Glu) n.235C>G c.956C>G (p.Ala319Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372911G= | CA1425997872 | EIF2B5,THPO | c.1084C= (p.Gln362=) c.664C= (p.Gln222=) c.647C= (p.Ala216=) c.548C= (p.Ala183=) c.2106+228204G= (n.2106+228204G=) c.652C= (p.Gln218=) n.235C= c.956C= (p.Ala319=) | |
| 3 | g.184372911G>T | CA355462002 | EIF2B5,THPO | c.1084C>A (p.Gln362Lys) c.664C>A (p.Gln222Lys) c.647C>A (p.Ala216Glu) c.548C>A (p.Ala183Glu) c.2106+228204G>T (n.2106+228204G>T) c.652C>A (p.Gln218Lys) n.235C>A c.956C>A (p.Ala319Glu) | |
| 3 | g.184372912C>A | CA355462005 | EIF2B5,THPO | c.1083G>T (p.Trp361Cys) c.663G>T (p.Trp221Cys) c.646G>T (p.Ala216Ser) c.547G>T (p.Ala183Ser) c.2106+228205C>A (n.2106+228205C>A) c.651G>T (p.Trp217Cys) n.234G>T c.955G>T (p.Ala319Ser) | |
| 3 | g.184372912C>G | CA355462006 | EIF2B5,THPO | c.1083G>C (p.Trp361Cys) c.663G>C (p.Trp221Cys) c.646G>C (p.Ala216Pro) c.547G>C (p.Ala183Pro) c.2106+228205C>G (n.2106+228205C>G) c.651G>C (p.Trp217Cys) n.234G>C c.955G>C (p.Ala319Pro) | |
| 3 | g.184372912C>T | CA355462007 | EIF2B5,THPO | c.1083G>A (p.Trp361Ter) c.663G>A (p.Trp221Ter) c.646G>A (p.Ala216Thr) c.547G>A (p.Ala183Thr) c.2106+228205C>T (n.2106+228205C>T) c.651G>A (p.Trp217Ter) n.234G>A c.955G>A (p.Ala319Thr) | |
| 3 | g.184372913C>A | CA355462008 | EIF2B5,THPO | c.1082G>T (p.Trp361Leu) c.662G>T (p.Trp221Leu) c.645G>T (p.Val215=) c.546G>T (p.Val182=) c.2106+228206C>A (n.2106+228206C>A) c.650G>T (p.Trp217Leu) n.233G>T c.954G>T (p.Val318=) | |
| 3 | g.184372913C>G | CA355462009 | EIF2B5,THPO | c.1082G>C (p.Trp361Ser) c.662G>C (p.Trp221Ser) c.645G>C (p.Val215=) c.546G>C (p.Val182=) c.2106+228206C>G (n.2106+228206C>G) c.650G>C (p.Trp217Ser) n.233G>C c.954G>C (p.Val318=) | |
| 3 | g.184372913C>T | CA355462010 | EIF2B5,THPO | c.1082G>A (p.Trp361Ter) c.662G>A (p.Trp221Ter) c.645G>A (p.Val215=) c.546G>A (p.Val182=) c.2106+228206C>T (n.2106+228206C>T) c.650G>A (p.Trp217Ter) n.233G>A c.954G>A (p.Val318=) | |
| 3 | g.184372914A>C | CA355462011 | EIF2B5,THPO | c.1081T>G (p.Trp361Gly) c.661T>G (p.Trp221Gly) c.644T>G (p.Val215Gly) c.545T>G (p.Val182Gly) c.2106+228207A>C (n.2106+228207A>C) c.649T>G (p.Trp217Gly) n.232T>G c.953T>G (p.Val318Gly) | |
| 3 | g.184372914A>G | CA355462012 | EIF2B5,THPO | c.1081T>C (p.Trp361Arg) c.661T>C (p.Trp221Arg) c.644T>C (p.Val215Ala) c.545T>C (p.Val182Ala) c.2106+228207A>G (n.2106+228207A>G) c.649T>C (p.Trp217Arg) n.232T>C c.953T>C (p.Val318Ala) | |
| 3 | g.184372914A>T | CA355462013 | EIF2B5,THPO | c.1081T>A (p.Trp361Arg) c.661T>A (p.Trp221Arg) c.644T>A (p.Val215Glu) c.545T>A (p.Val182Glu) c.2106+228207A>T (n.2106+228207A>T) c.649T>A (p.Trp217Arg) n.232T>A c.953T>A (p.Val318Glu) | |
| 3 | g.184372915C>A | CA355462014 | EIF2B5,THPO | c.1080G>T (p.Lys360Asn) c.660G>T (p.Lys220Asn) c.643G>T (p.Val215Leu) c.544G>T (p.Val182Leu) c.2106+228208C>A (n.2106+228208C>A) c.648G>T (p.Lys216Asn) n.231G>T c.952G>T (p.Val318Leu) | |
| 3 | g.184372915C= | CA1425997873 | EIF2B5,THPO | c.1080G= (p.Lys360=) c.660G= (p.Lys220=) c.643G= (p.Val215=) c.544G= (p.Val182=) c.2106+228208C= (n.2106+228208C=) c.648G= (p.Lys216=) n.231G= c.952G= (p.Val318=) | |
| 3 | g.184372915C>G | CA355462015 | EIF2B5,THPO | c.1080G>C (p.Lys360Asn) c.660G>C (p.Lys220Asn) c.643G>C (p.Val215Leu) c.544G>C (p.Val182Leu) c.2106+228208C>G (n.2106+228208C>G) c.648G>C (p.Lys216Asn) n.231G>C c.952G>C (p.Val318Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.184372915C>T | CA355462016 | EIF2B5,THPO | c.1080G>A (p.Lys360=) c.660G>A (p.Lys220=) c.643G>A (p.Val215Met) c.544G>A (p.Val182Met) c.2106+228208C>T (n.2106+228208C>T) c.648G>A (p.Lys216=) n.231G>A c.952G>A (p.Val318Met) | |
| 3 | g.184372916T>A | CA355462019 | EIF2B5,THPO | c.1079A>T (p.Lys360Met) c.659A>T (p.Lys220Met) c.642A>T (p.Glu214Asp) c.543A>T (p.Glu181Asp) c.2106+228209T>A (n.2106+228209T>A) c.647A>T (p.Lys216Met) n.230A>T c.951A>T (p.Glu317Asp) | |
| 3 | g.184372916T>C | CA355462017 | EIF2B5,THPO | c.1079A>G (p.Lys360Arg) c.659A>G (p.Lys220Arg) c.642A>G (p.Glu214=) c.543A>G (p.Glu181=) c.2106+228209T>C (n.2106+228209T>C) c.647A>G (p.Lys216Arg) n.230A>G c.951A>G (p.Glu317=) | |
| 3 | g.184372916T>G | CA355462018 | EIF2B5,THPO | c.1079A>C (p.Lys360Thr) c.659A>C (p.Lys220Thr) c.642A>C (p.Glu214Asp) c.543A>C (p.Glu181Asp) c.2106+228209T>G (n.2106+228209T>G) c.647A>C (p.Lys216Thr) n.230A>C c.951A>C (p.Glu317Asp) | |
| 3 | g.184372917T>A | CA355462020 | EIF2B5,THPO | c.1078A>T (p.Lys360Ter) c.658A>T (p.Lys220Ter) c.641A>T (p.Glu214Val) c.542A>T (p.Glu181Val) c.2106+228210T>A (n.2106+228210T>A) c.646A>T (p.Lys216Ter) n.229A>T c.950A>T (p.Glu317Val) | |
| 3 | g.184372917T>C | CA355462021 | EIF2B5,THPO | c.1078A>G (p.Lys360Glu) c.658A>G (p.Lys220Glu) c.641A>G (p.Glu214Gly) c.542A>G (p.Glu181Gly) c.2106+228210T>C (n.2106+228210T>C) c.646A>G (p.Lys216Glu) n.229A>G c.950A>G (p.Glu317Gly) | |
| 3 | g.184372917T>G | CA355462022 | EIF2B5,THPO | c.1078A>C (p.Lys360Gln) c.658A>C (p.Lys220Gln) c.641A>C (p.Glu214Ala) c.542A>C (p.Glu181Ala) c.2106+228210T>G (n.2106+228210T>G) c.646A>C (p.Lys216Gln) n.229A>C c.950A>C (p.Glu317Ala) | |
| 3 | g.184372918C>A | CA2734897 | EIF2B5,THPO | c.1077G>T (p.Leu359=) c.657G>T (p.Leu219=) c.640G>T (p.Glu214Ter) c.541G>T (p.Glu181Ter) c.2106+228211C>A (n.2106+228211C>A) c.645G>T (p.Leu215=) n.228G>T c.949G>T (p.Glu317Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372918C= | CA1425997874 | EIF2B5,THPO | c.1077G= (p.Leu359=) c.657G= (p.Leu219=) c.640G= (p.Glu214=) c.541G= (p.Glu181=) c.2106+228211C= (n.2106+228211C=) c.645G= (p.Leu215=) n.228G= c.949G= (p.Glu317=) | |
| 3 | g.184372918C>G | CA355462023 | EIF2B5,THPO | c.1077G>C (p.Leu359=) c.657G>C (p.Leu219=) c.640G>C (p.Glu214Gln) c.541G>C (p.Glu181Gln) c.2106+228211C>G (n.2106+228211C>G) c.645G>C (p.Leu215=) n.228G>C c.949G>C (p.Glu317Gln) | |
| 3 | g.184372918C>T | CA355462024 | EIF2B5,THPO | c.1077G>A (p.Leu359=) c.657G>A (p.Leu219=) c.640G>A (p.Glu214Lys) c.541G>A (p.Glu181Lys) c.2106+228211C>T (n.2106+228211C>T) c.645G>A (p.Leu215=) n.228G>A c.949G>A (p.Glu317Lys) | |
| 3 | g.184372919A>C | CA355462025 | EIF2B5,THPO | c.1076T>G (p.Leu359Arg) c.656T>G (p.Leu219Arg) c.639T>G (p.Ser213=) c.540T>G (p.Ser180=) c.2106+228212A>C (n.2106+228212A>C) c.644T>G (p.Leu215Arg) n.227T>G c.948T>G (p.Ser316=) | |
| 3 | g.184372919A>G | CA355462026 | EIF2B5,THPO | c.1076T>C (p.Leu359Pro) c.656T>C (p.Leu219Pro) c.639T>C (p.Ser213=) c.540T>C (p.Ser180=) c.2106+228212A>G (n.2106+228212A>G) c.644T>C (p.Leu215Pro) n.227T>C c.948T>C (p.Ser316=) | gnomAD v4 |
| 3 | g.184372919A>T | CA355462027 | EIF2B5,THPO | c.1076T>A (p.Leu359Gln) c.656T>A (p.Leu219Gln) c.639T>A (p.Ser213=) c.540T>A (p.Ser180=) c.2106+228212A>T (n.2106+228212A>T) c.644T>A (p.Leu215Gln) n.227T>A c.948T>A (p.Ser316=) | |
| 3 | g.184372920G>A | CA355462028 | EIF2B5,THPO | c.1075C>T (p.Leu359=) c.655C>T (p.Leu219=) c.638C>T (p.Ser213Phe) c.539C>T (p.Ser180Phe) c.2106+228213G>A (n.2106+228213G>A) c.643C>T (p.Leu215=) n.226C>T c.947C>T (p.Ser316Phe) | |
| 3 | g.184372920G>C | CA355462029 | EIF2B5,THPO | c.1075C>G (p.Leu359Val) c.655C>G (p.Leu219Val) c.638C>G (p.Ser213Cys) c.539C>G (p.Ser180Cys) c.2106+228213G>C (n.2106+228213G>C) c.643C>G (p.Leu215Val) n.226C>G c.947C>G (p.Ser316Cys) | |
| 3 | g.184372920G>T | CA355462030 | EIF2B5,THPO | c.1075C>A (p.Leu359Met) c.655C>A (p.Leu219Met) c.638C>A (p.Ser213Tyr) c.539C>A (p.Ser180Tyr) c.2106+228213G>T (n.2106+228213G>T) c.643C>A (p.Leu215Met) n.226C>A c.947C>A (p.Ser316Tyr) | |
| 3 | g.184372921A>C | CA355462032 | EIF2B5,THPO | c.1074T>G (p.Leu358=) c.654T>G (p.Leu218=) c.637T>G (p.Ser213Ala) c.538T>G (p.Ser180Ala) c.2106+228214A>C (n.2106+228214A>C) c.642T>G (p.Leu214=) n.225T>G c.946T>G (p.Ser316Ala) | |
| 3 | g.184372921A>G | CA355462033 | EIF2B5,THPO | c.1074T>C (p.Leu358=) c.654T>C (p.Leu218=) c.637T>C (p.Ser213Pro) c.538T>C (p.Ser180Pro) c.2106+228214A>G (n.2106+228214A>G) c.642T>C (p.Leu214=) n.225T>C c.946T>C (p.Ser316Pro) | |
| 3 | g.184372921A>T | CA355462031 | EIF2B5,THPO | c.1074T>A (p.Leu358=) c.654T>A (p.Leu218=) c.637T>A (p.Ser213Thr) c.538T>A (p.Ser180Thr) c.2106+228214A>T (n.2106+228214A>T) c.642T>A (p.Leu214=) n.225T>A c.946T>A (p.Ser316Thr) | |
| 3 | g.184372922del | CA2668833320 | EIF2B5,THPO | c.1074del (p.Leu359Ter) c.654del (p.Leu219Ter) c.637del (p.Ser213LeufsTer?) c.538del (p.Ser180LeufsTer?) c.2106+228215del (n.2106+228215del) c.642del (p.Leu215Ter) n.225del c.946del (p.Ser316LeufsTer?) | gnomAD v4 |
| 3 | g.184372922A= | CA1425997875 | EIF2B5,THPO | c.1073T= (p.Leu358=) c.653T= (p.Leu218=) c.636T= (p.Ala212=) c.537T= (p.Ala179=) c.2106+228215A= (n.2106+228215A=) c.641T= (p.Leu214=) n.224T= c.945T= (p.Ala315=) | |
| 3 | g.184372922A>C | CA355462034 | EIF2B5,THPO | c.1073T>G (p.Leu358Arg) c.653T>G (p.Leu218Arg) c.636T>G (p.Ala212=) c.537T>G (p.Ala179=) c.2106+228215A>C (n.2106+228215A>C) c.641T>G (p.Leu214Arg) n.224T>G c.945T>G (p.Ala315=) | dbSNP |
| 3 | g.184372922A>G | CA355462035 | EIF2B5,THPO | c.1073T>C (p.Leu358Pro) c.653T>C (p.Leu218Pro) c.636T>C (p.Ala212=) c.537T>C (p.Ala179=) c.2106+228215A>G (n.2106+228215A>G) c.641T>C (p.Leu214Pro) n.224T>C c.945T>C (p.Ala315=) | |
| 3 | g.184372922A>T | CA355462036 | EIF2B5,THPO | c.1073T>A (p.Leu358His) c.653T>A (p.Leu218His) c.636T>A (p.Ala212=) c.537T>A (p.Ala179=) c.2106+228215A>T (n.2106+228215A>T) c.641T>A (p.Leu214His) n.224T>A c.945T>A (p.Ala315=) | |
| 3 | g.184372923G>A | CA355462037 | EIF2B5,THPO | c.1072C>T (p.Leu358Phe) c.652C>T (p.Leu218Phe) c.635C>T (p.Ala212Val) c.536C>T (p.Ala179Val) c.2106+228216G>A (n.2106+228216G>A) c.640C>T (p.Leu214Phe) n.223C>T c.944C>T (p.Ala315Val) | |
| 3 | g.184372923G>C | CA355462038 | EIF2B5,THPO | c.1072C>G (p.Leu358Val) c.652C>G (p.Leu218Val) c.635C>G (p.Ala212Gly) c.536C>G (p.Ala179Gly) c.2106+228216G>C (n.2106+228216G>C) c.640C>G (p.Leu214Val) n.223C>G c.944C>G (p.Ala315Gly) | |
| 3 | g.184372923G>T | CA355462039 | EIF2B5,THPO | c.1072C>A (p.Leu358Ile) c.652C>A (p.Leu218Ile) c.635C>A (p.Ala212Asp) c.536C>A (p.Ala179Asp) c.2106+228216G>T (n.2106+228216G>T) c.640C>A (p.Leu214Ile) n.223C>A c.944C>A (p.Ala315Asp) | |
| 3 | g.184372924C>A | CA355462042 | EIF2B5,THPO | c.1071G>T (p.Gly357=) c.651G>T (p.Gly217=) c.634G>T (p.Ala212Ser) c.535G>T (p.Ala179Ser) c.2106+228217C>A (n.2106+228217C>A) c.639G>T (p.Gly213=) n.222G>T c.943G>T (p.Ala315Ser) | |
| 3 | g.184372924C>G | CA355462040 | EIF2B5,THPO | c.1071G>C (p.Gly357=) c.651G>C (p.Gly217=) c.634G>C (p.Ala212Pro) c.535G>C (p.Ala179Pro) c.2106+228217C>G (n.2106+228217C>G) c.639G>C (p.Gly213=) n.222G>C c.943G>C (p.Ala315Pro) | |
| 3 | g.184372924C>T | CA355462041 | EIF2B5,THPO | c.1071G>A (p.Gly357=) c.651G>A (p.Gly217=) c.634G>A (p.Ala212Thr) c.535G>A (p.Ala179Thr) c.2106+228217C>T (n.2106+228217C>T) c.639G>A (p.Gly213=) n.222G>A c.943G>A (p.Ala315Thr) | |
| 3 | g.184372925C>A | CA355462043 | EIF2B5,THPO | c.1070G>T (p.Gly357Val) c.650G>T (p.Gly217Val) c.633G>T (p.Trp211Cys) c.534G>T (p.Trp178Cys) c.2106+228218C>A (n.2106+228218C>A) c.638G>T (p.Gly213Val) n.221G>T c.942G>T (p.Trp314Cys) | |
| 3 | g.184372925C>G | CA355462044 | EIF2B5,THPO | c.1070G>C (p.Gly357Ala) c.650G>C (p.Gly217Ala) c.633G>C (p.Trp211Cys) c.534G>C (p.Trp178Cys) c.2106+228218C>G (n.2106+228218C>G) c.638G>C (p.Gly213Ala) n.221G>C c.942G>C (p.Trp314Cys) | |
| 3 | g.184372925C>T | CA355462045 | EIF2B5,THPO | c.1070G>A (p.Gly357Glu) c.650G>A (p.Gly217Glu) c.633G>A (p.Trp211Ter) c.534G>A (p.Trp178Ter) c.2106+228218C>T (n.2106+228218C>T) c.638G>A (p.Gly213Glu) n.221G>A c.942G>A (p.Trp314Ter) | |
| 3 | g.184372926C>A | CA355462046 | EIF2B5,THPO | c.1069G>T (p.Gly357Trp) c.649G>T (p.Gly217Trp) c.632G>T (p.Trp211Leu) c.533G>T (p.Trp178Leu) c.2106+228219C>A (n.2106+228219C>A) c.637G>T (p.Gly213Trp) n.220G>T c.941G>T (p.Trp314Leu) | |
| 3 | g.184372926C= | CA1425997876 | EIF2B5,THPO | c.1069G= (p.Gly357=) c.649G= (p.Gly217=) c.632G= (p.Trp211=) c.533G= (p.Trp178=) c.2106+228219C= (n.2106+228219C=) c.637G= (p.Gly213=) n.220G= c.941G= (p.Trp314=) | |
| 3 | g.184372926C>G | CA355462047 | EIF2B5,THPO | c.1069G>C (p.Gly357Arg) c.649G>C (p.Gly217Arg) c.632G>C (p.Trp211Ser) c.533G>C (p.Trp178Ser) c.2106+228219C>G (n.2106+228219C>G) c.637G>C (p.Gly213Arg) n.220G>C c.941G>C (p.Trp314Ser) | |
| 3 | g.184372926C>T | CA2734898 | EIF2B5,THPO | c.1069G>A (p.Gly357Arg) c.649G>A (p.Gly217Arg) c.632G>A (p.Trp211Ter) c.533G>A (p.Trp178Ter) c.2106+228219C>T (n.2106+228219C>T) c.637G>A (p.Gly213Arg) n.220G>A c.941G>A (p.Trp314Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372926_184372928delinsCAG | CA1425997877 | EIF2B5,THPO | c.1067_1069delinsCTG (p.Ser356=) c.647_649delinsCTG (p.Ser216=) c.630_632delinsCTG (p.Leu210=) c.531_533delinsCTG (p.Leu177=) c.2106+228219_2106+228221delinsCAG (n.2106+228219_2106+228221delinsCAG) c.635_637delinsCTG (p.Ser212=) n.218_220delinsCTG c.939_941delinsCTG (p.Leu313=) | |
| 3 | g.184372927A= | CA1425997878 | EIF2B5,THPO | c.1068T= (p.Ser356=) c.648T= (p.Ser216=) c.631T= (p.Trp211=) c.532T= (p.Trp178=) c.2106+228220A= (n.2106+228220A=) c.636T= (p.Ser212=) n.219T= c.940T= (p.Trp314=) | |
| 3 | g.184372927A>C | CA355462048 | EIF2B5,THPO | c.1068T>G (p.Ser356=) c.648T>G (p.Ser216=) c.631T>G (p.Trp211Gly) c.532T>G (p.Trp178Gly) c.2106+228220A>C (n.2106+228220A>C) c.636T>G (p.Ser212=) n.219T>G c.940T>G (p.Trp314Gly) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.184372927A>G | CA355462050 | EIF2B5,THPO | c.1068T>C (p.Ser356=) c.648T>C (p.Ser216=) c.631T>C (p.Trp211Arg) c.532T>C (p.Trp178Arg) c.2106+228220A>G (n.2106+228220A>G) c.636T>C (p.Ser212=) n.219T>C c.940T>C (p.Trp314Arg) | |
| 3 | g.184372927A>T | CA355462049 | EIF2B5,THPO | c.1068T>A (p.Ser356=) c.648T>A (p.Ser216=) c.631T>A (p.Trp211Arg) c.532T>A (p.Trp178Arg) c.2106+228220A>T (n.2106+228220A>T) c.636T>A (p.Ser212=) n.219T>A c.940T>A (p.Trp314Arg) | |
| 3 | g.184372929_184372930del | CA548795852 | EIF2B5,THPO | c.1067_1068del (p.Ser356TrpfsTer?) c.647_648del (p.Ser216TrpfsTer?) c.630_631del (p.Trp211GlyfsTer3) c.531_532del (p.Trp178GlyfsTer3) c.2106+228222_2106+228223del (n.2106+228222_2106+228223del) c.635_636del (p.Ser212TrpfsTer?) n.218_219del c.939_940del (p.Trp314GlyfsTer3) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184372928G>A | CA355462051 | EIF2B5,THPO | c.1067C>T (p.Ser356Phe) c.647C>T (p.Ser216Phe) c.630C>T (p.Leu210=) c.531C>T (p.Leu177=) c.2106+228221G>A (n.2106+228221G>A) c.635C>T (p.Ser212Phe) n.218C>T c.939C>T (p.Leu313=) | |
| 3 | g.184372928G>C | CA355462052 | EIF2B5,THPO | c.1067C>G (p.Ser356Cys) c.647C>G (p.Ser216Cys) c.630C>G (p.Leu210=) c.531C>G (p.Leu177=) c.2106+228221G>C (n.2106+228221G>C) c.635C>G (p.Ser212Cys) n.218C>G c.939C>G (p.Leu313=) | |
| 3 | g.184372928G>T | CA355462053 | EIF2B5,THPO | c.1067C>A (p.Ser356Tyr) c.647C>A (p.Ser216Tyr) c.630C>A (p.Leu210=) c.531C>A (p.Leu177=) c.2106+228221G>T (n.2106+228221G>T) c.635C>A (p.Ser212Tyr) n.218C>A c.939C>A (p.Leu313=) | |
| 3 | g.184372929A>C | CA355462054 | EIF2B5,THPO | c.1066T>G (p.Ser356Ala) c.646T>G (p.Ser216Ala) c.629T>G (p.Leu210Arg) c.530T>G (p.Leu177Arg) c.2106+228222A>C (n.2106+228222A>C) c.634T>G (p.Ser212Ala) n.217T>G c.938T>G (p.Leu313Arg) | |
| 3 | g.184372929A>G | CA355462055 | EIF2B5,THPO | c.1066T>C (p.Ser356Pro) c.646T>C (p.Ser216Pro) c.629T>C (p.Leu210Pro) c.530T>C (p.Leu177Pro) c.2106+228222A>G (n.2106+228222A>G) c.634T>C (p.Ser212Pro) n.217T>C c.938T>C (p.Leu313Pro) | |
| 3 | g.184372929A>T | CA355462056 | EIF2B5,THPO | c.1066T>A (p.Ser356Thr) c.646T>A (p.Ser216Thr) c.629T>A (p.Leu210His) c.530T>A (p.Leu177His) c.2106+228222A>T (n.2106+228222A>T) c.634T>A (p.Ser212Thr) n.217T>A c.938T>A (p.Leu313His) | gnomAD v4 |
| 3 | g.184372930G>A | CA355462057 | EIF2B5,THPO | c.1065C>T (p.Gly355=) c.645C>T (p.Gly215=) c.628C>T (p.Leu210Phe) c.529C>T (p.Leu177Phe) c.2106+228223G>A (n.2106+228223G>A) c.633C>T (p.Gly211=) n.216C>T c.937C>T (p.Leu313Phe) | |
| 3 | g.184372930G>C | CA355462058 | EIF2B5,THPO | c.1065C>G (p.Gly355=) c.645C>G (p.Gly215=) c.628C>G (p.Leu210Val) c.529C>G (p.Leu177Val) c.2106+228223G>C (n.2106+228223G>C) c.633C>G (p.Gly211=) n.216C>G c.937C>G (p.Leu313Val) | |
| 3 | g.184372930G>T | CA355462059 | EIF2B5,THPO | c.1065C>A (p.Gly355=) c.645C>A (p.Gly215=) c.628C>A (p.Leu210Ile) c.529C>A (p.Leu177Ile) c.2106+228223G>T (n.2106+228223G>T) c.633C>A (p.Gly211=) n.216C>A c.937C>A (p.Leu313Ile) | |
| 3 | g.184372931C>A | CA355462060 | EIF2B5,THPO | c.1064G>T (p.Gly355Val) c.644G>T (p.Gly215Val) c.627G>T (p.Trp209Cys) c.528G>T (p.Trp176Cys) c.2106+228224C>A (n.2106+228224C>A) c.632G>T (p.Gly211Val) n.215G>T c.936G>T (p.Trp312Cys) | |
| 3 | g.184372931C>G | CA355462061 | EIF2B5,THPO | c.1064G>C (p.Gly355Ala) c.644G>C (p.Gly215Ala) c.627G>C (p.Trp209Cys) c.528G>C (p.Trp176Cys) c.2106+228224C>G (n.2106+228224C>G) c.632G>C (p.Gly211Ala) n.215G>C c.936G>C (p.Trp312Cys) | |
| 3 | g.184372931C>T | CA355462062 | EIF2B5,THPO | c.1064G>A (p.Gly355Asp) c.644G>A (p.Gly215Asp) c.627G>A (p.Trp209Ter) c.528G>A (p.Trp176Ter) c.2106+228224C>T (n.2106+228224C>T) c.632G>A (p.Gly211Asp) n.215G>A c.936G>A (p.Trp312Ter) | |
| 3 | g.184372931_184372941delinsCCAGTAGTTCT | CA1425997879 | EIF2B5,THPO | c.1054_1064delinsAGAACTACTGG (p.Arg352=) c.634_644delinsAGAACTACTGG (p.Arg212=) c.617_627delinsAGAACTACTGG (p.Gln206=) c.518_528delinsAGAACTACTGG (p.Gln173=) c.2106+228224_2106+228234delinsCCAGTAGTTCT (n.2106+228224_2106+228234delinsCCAGTAGTTCT) c.622_632delinsAGAACTACTGG (p.Arg208=) n.205_215delinsAGAACTACTGG c.926_936delinsAGAACTACTGG (p.Gln309=) | |
| 3 | g.184372932C>A | CA355462063 | EIF2B5,THPO | c.1063G>T (p.Gly355Cys) c.643G>T (p.Gly215Cys) c.626G>T (p.Trp209Leu) c.527G>T (p.Trp176Leu) c.2106+228225C>A (n.2106+228225C>A) c.631G>T (p.Gly211Cys) n.214G>T c.935G>T (p.Trp312Leu) | |
| 3 | g.184372932C>G | CA355462065 | EIF2B5,THPO | c.1063G>C (p.Gly355Arg) c.643G>C (p.Gly215Arg) c.626G>C (p.Trp209Ser) c.527G>C (p.Trp176Ser) c.2106+228225C>G (n.2106+228225C>G) c.631G>C (p.Gly211Arg) n.214G>C c.935G>C (p.Trp312Ser) | |
| 3 | g.184372932C>T | CA355462064 | EIF2B5,THPO | c.1063G>A (p.Gly355Ser) c.643G>A (p.Gly215Ser) c.626G>A (p.Trp209Ter) c.527G>A (p.Trp176Ter) c.2106+228225C>T (n.2106+228225C>T) c.631G>A (p.Gly211Ser) n.214G>A c.935G>A (p.Trp312Ter) | gnomAD v4 |
| 3 | g.184372932_184372941del | CA548795853 | EIF2B5,THPO | c.1054_1063del (p.Arg352AlafsTer5) c.634_643del (p.Arg212AlafsTer5) c.617_626del (p.Gln206ArgfsTer?) c.518_527del (p.Gln173ArgfsTer?) c.2106+228225_2106+228234del (n.2106+228225_2106+228234del) c.622_631del (p.Arg208AlafsTer5) n.205_214del c.926_935del (p.Gln309ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184372933A= | CA1425997880 | EIF2B5,THPO | c.1062T= (p.Thr354=) c.642T= (p.Thr214=) c.625T= (p.Trp209=) c.526T= (p.Trp176=) c.2106+228226A= (n.2106+228226A=) c.630T= (p.Thr210=) n.213T= c.934T= (p.Trp312=) | |
| 3 | g.184372933A>C | CA355462066 | EIF2B5,THPO | c.1062T>G (p.Thr354=) c.642T>G (p.Thr214=) c.625T>G (p.Trp209Gly) c.526T>G (p.Trp176Gly) c.2106+228226A>C (n.2106+228226A>C) c.630T>G (p.Thr210=) n.213T>G c.934T>G (p.Trp312Gly) | |
| 3 | g.184372933A>G | CA355462067 | EIF2B5,THPO | c.1062T>C (p.Thr354=) c.642T>C (p.Thr214=) c.625T>C (p.Trp209Arg) c.526T>C (p.Trp176Arg) c.2106+228226A>G (n.2106+228226A>G) c.630T>C (p.Thr210=) n.213T>C c.934T>C (p.Trp312Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.184372933A>T | CA355462068 | EIF2B5,THPO | c.1062T>A (p.Thr354=) c.642T>A (p.Thr214=) c.625T>A (p.Trp209Arg) c.526T>A (p.Trp176Arg) c.2106+228226A>T (n.2106+228226A>T) c.630T>A (p.Thr210=) n.213T>A c.934T>A (p.Trp312Arg) | |
| 3 | g.184372934G>A | CA355462069 | EIF2B5,THPO | c.1061C>T (p.Thr354Ile) c.641C>T (p.Thr214Ile) c.624C>T (p.Tyr208=) c.525C>T (p.Tyr175=) c.2106+228227G>A (n.2106+228227G>A) c.629C>T (p.Thr210Ile) n.212C>T c.933C>T (p.Tyr311=) | |
| 3 | g.184372934G>C | CA355462070 | EIF2B5,THPO | c.1061C>G (p.Thr354Ser) c.641C>G (p.Thr214Ser) c.624C>G (p.Tyr208Ter) c.525C>G (p.Tyr175Ter) c.2106+228227G>C (n.2106+228227G>C) c.629C>G (p.Thr210Ser) n.212C>G c.933C>G (p.Tyr311Ter) | |
| 3 | g.184372934G= | CA1425997881 | EIF2B5,THPO | c.1061C= (p.Thr354=) c.641C= (p.Thr214=) c.624C= (p.Tyr208=) c.525C= (p.Tyr175=) c.2106+228227G= (n.2106+228227G=) c.629C= (p.Thr210=) n.212C= c.933C= (p.Tyr311=) | |
| 3 | g.184372934G>T | CA2734899 | EIF2B5,THPO | c.1061C>A (p.Thr354Asn) c.641C>A (p.Thr214Asn) c.624C>A (p.Tyr208Ter) c.525C>A (p.Tyr175Ter) c.2106+228227G>T (n.2106+228227G>T) c.629C>A (p.Thr210Asn) n.212C>A c.933C>A (p.Tyr311Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372935T>A | CA355462071 | EIF2B5,THPO | c.1060A>T (p.Thr354Ser) c.640A>T (p.Thr214Ser) c.623A>T (p.Tyr208Phe) c.524A>T (p.Tyr175Phe) c.2106+228228T>A (n.2106+228228T>A) c.628A>T (p.Thr210Ser) n.211A>T c.932A>T (p.Tyr311Phe) | |
| 3 | g.184372935T>C | CA355462072 | EIF2B5,THPO | c.1060A>G (p.Thr354Ala) c.640A>G (p.Thr214Ala) c.623A>G (p.Tyr208Cys) c.524A>G (p.Tyr175Cys) c.2106+228228T>C (n.2106+228228T>C) c.628A>G (p.Thr210Ala) n.211A>G c.932A>G (p.Tyr311Cys) | gnomAD v4 COSMIC |
| 3 | g.184372935T>G | CA355462073 | EIF2B5,THPO | c.1060A>C (p.Thr354Pro) c.640A>C (p.Thr214Pro) c.623A>C (p.Tyr208Ser) c.524A>C (p.Tyr175Ser) c.2106+228228T>G (n.2106+228228T>G) c.628A>C (p.Thr210Pro) n.211A>C c.932A>C (p.Tyr311Ser) | |
| 3 | g.184372936A= | CA1425997882 | EIF2B5,THPO | c.1059T= (p.Thr353=) c.639T= (p.Thr213=) c.622T= (p.Tyr208=) c.523T= (p.Tyr175=) c.2106+228229A= (n.2106+228229A=) c.627T= (p.Thr209=) n.210T= c.931T= (p.Tyr311=) | |
| 3 | g.184372936A>C | CA355462074 | EIF2B5,THPO | c.1059T>G (p.Thr353=) c.639T>G (p.Thr213=) c.622T>G (p.Tyr208Asp) c.523T>G (p.Tyr175Asp) c.2106+228229A>C (n.2106+228229A>C) c.627T>G (p.Thr209=) n.210T>G c.931T>G (p.Tyr311Asp) | |
| 3 | g.184372936A>G | CA355462075 | EIF2B5,THPO | c.1059T>C (p.Thr353=) c.639T>C (p.Thr213=) c.622T>C (p.Tyr208His) c.523T>C (p.Tyr175His) c.2106+228229A>G (n.2106+228229A>G) c.627T>C (p.Thr209=) n.210T>C c.931T>C (p.Tyr311His) | |
| 3 | g.184372936A>T | CA2734900 | EIF2B5,THPO | c.1059T>A (p.Thr353=) c.639T>A (p.Thr213=) c.622T>A (p.Tyr208Asn) c.523T>A (p.Tyr175Asn) c.2106+228229A>T (n.2106+228229A>T) c.627T>A (p.Thr209=) n.210T>A c.931T>A (p.Tyr311Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372937G>A | CA355462078 | EIF2B5,THPO | c.1058C>T (p.Thr353Ile) c.638C>T (p.Thr213Ile) c.621C>T (p.Asn207=) c.522C>T (p.Asn174=) c.2106+228230G>A (n.2106+228230G>A) c.626C>T (p.Thr209Ile) n.209C>T c.930C>T (p.Asn310=) | |
| 3 | g.184372937G>C | CA355462077 | EIF2B5,THPO | c.1058C>G (p.Thr353Ser) c.638C>G (p.Thr213Ser) c.621C>G (p.Asn207Lys) c.522C>G (p.Asn174Lys) c.2106+228230G>C (n.2106+228230G>C) c.626C>G (p.Thr209Ser) n.209C>G c.930C>G (p.Asn310Lys) | |
| 3 | g.184372937G>T | CA355462076 | EIF2B5,THPO | c.1058C>A (p.Thr353Asn) c.638C>A (p.Thr213Asn) c.621C>A (p.Asn207Lys) c.522C>A (p.Asn174Lys) c.2106+228230G>T (n.2106+228230G>T) c.626C>A (p.Thr209Asn) n.209C>A c.930C>A (p.Asn310Lys) | |
| 3 | g.184372938T>A | CA355462079 | EIF2B5,THPO | c.1057A>T (p.Thr353Ser) c.637A>T (p.Thr213Ser) c.620A>T (p.Asn207Ile) c.521A>T (p.Asn174Ile) c.2106+228231T>A (n.2106+228231T>A) c.625A>T (p.Thr209Ser) n.208A>T c.929A>T (p.Asn310Ile) | |
| 3 | g.184372938T>C | CA355462080 | EIF2B5,THPO | c.1057A>G (p.Thr353Ala) c.637A>G (p.Thr213Ala) c.620A>G (p.Asn207Ser) c.521A>G (p.Asn174Ser) c.2106+228231T>C (n.2106+228231T>C) c.625A>G (p.Thr209Ala) n.208A>G c.929A>G (p.Asn310Ser) | gnomAD v4 |
| 3 | g.184372938T>G | CA355462081 | EIF2B5,THPO | c.1057A>C (p.Thr353Pro) c.637A>C (p.Thr213Pro) c.620A>C (p.Asn207Thr) c.521A>C (p.Asn174Thr) c.2106+228231T>G (n.2106+228231T>G) c.625A>C (p.Thr209Pro) n.208A>C c.929A>C (p.Asn310Thr) | |
| 3 | g.184372939T>A | CA355462082 | EIF2B5,THPO | c.1056A>T (p.Arg352Ser) c.636A>T (p.Arg212Ser) c.619A>T (p.Asn207Tyr) c.520A>T (p.Asn174Tyr) c.2106+228232T>A (n.2106+228232T>A) c.624A>T (p.Arg208Ser) n.207A>T c.928A>T (p.Asn310Tyr) | |
| 3 | g.184372939T>C | CA355462083 | EIF2B5,THPO | c.1056A>G (p.Arg352=) c.636A>G (p.Arg212=) c.619A>G (p.Asn207Asp) c.520A>G (p.Asn174Asp) c.2106+228232T>C (n.2106+228232T>C) c.624A>G (p.Arg208=) n.207A>G c.928A>G (p.Asn310Asp) | dbSNP |
| 3 | g.184372939T>G | CA355462084 | EIF2B5,THPO | c.1056A>C (p.Arg352Ser) c.636A>C (p.Arg212Ser) c.619A>C (p.Asn207His) c.520A>C (p.Asn174His) c.2106+228232T>G (n.2106+228232T>G) c.624A>C (p.Arg208Ser) n.207A>C c.928A>C (p.Asn310His) | |
| 3 | g.184372940C>A | CA355462085 | EIF2B5,THPO | c.1055G>T (p.Arg352Ile) c.635G>T (p.Arg212Ile) c.618G>T (p.Gln206His) c.519G>T (p.Gln173His) c.2106+228233C>A (n.2106+228233C>A) c.623G>T (p.Arg208Ile) n.206G>T c.927G>T (p.Gln309His) | |
| 3 | g.184372940C>G | CA355462086 | EIF2B5,THPO | c.1055G>C (p.Arg352Thr) c.635G>C (p.Arg212Thr) c.618G>C (p.Gln206His) c.519G>C (p.Gln173His) c.2106+228233C>G (n.2106+228233C>G) c.623G>C (p.Arg208Thr) n.206G>C c.927G>C (p.Gln309His) | |
| 3 | g.184372940C>T | CA355462087 | EIF2B5,THPO | c.1055G>A (p.Arg352Lys) c.635G>A (p.Arg212Lys) c.618G>A (p.Gln206=) c.519G>A (p.Gln173=) c.2106+228233C>T (n.2106+228233C>T) c.623G>A (p.Arg208Lys) n.206G>A c.927G>A (p.Gln309=) | |
| 3 | g.184372941T>A | CA355462088 | EIF2B5,THPO | c.1054A>T (p.Arg352Ter) c.634A>T (p.Arg212Ter) c.617A>T (p.Gln206Leu) c.518A>T (p.Gln173Leu) c.2106+228234T>A (n.2106+228234T>A) c.622A>T (p.Arg208Ter) n.205A>T c.926A>T (p.Gln309Leu) | |
| 3 | g.184372941T>C | CA355462089 | EIF2B5,THPO | c.1054A>G (p.Arg352Gly) c.634A>G (p.Arg212Gly) c.617A>G (p.Gln206Arg) c.518A>G (p.Gln173Arg) c.2106+228234T>C (n.2106+228234T>C) c.622A>G (p.Arg208Gly) n.205A>G c.926A>G (p.Gln309Arg) | |
| 3 | g.184372941T>G | CA355462090 | EIF2B5,THPO | c.1054A>C (p.Arg352=) c.634A>C (p.Arg212=) c.617A>C (p.Gln206Pro) c.518A>C (p.Gln173Pro) c.2106+228234T>G (n.2106+228234T>G) c.622A>C (p.Arg208=) n.205A>C c.926A>C (p.Gln309Pro) | |
| 3 | g.184372942G>A | CA355462093 | EIF2B5,THPO | c.1053C>T (p.Ala351=) c.633C>T (p.Ala211=) c.616C>T (p.Gln206Ter) c.517C>T (p.Gln173Ter) c.2106+228235G>A (n.2106+228235G>A) c.621C>T (p.Ala207=) n.204C>T c.925C>T (p.Gln309Ter) | |
| 3 | g.184372942G>C | CA355462092 | EIF2B5,THPO | c.1053C>G (p.Ala351=) c.633C>G (p.Ala211=) c.616C>G (p.Gln206Glu) c.517C>G (p.Gln173Glu) c.2106+228235G>C (n.2106+228235G>C) c.621C>G (p.Ala207=) n.204C>G c.925C>G (p.Gln309Glu) | |
| 3 | g.184372942G>T | CA355462091 | EIF2B5,THPO | c.1053C>A (p.Ala351=) c.633C>A (p.Ala211=) c.616C>A (p.Gln206Lys) c.517C>A (p.Gln173Lys) c.2106+228235G>T (n.2106+228235G>T) c.621C>A (p.Ala207=) n.204C>A c.925C>A (p.Gln309Lys) | |
| 3 | g.184372943G>A | CA355462094 | EIF2B5,THPO | c.1052C>T (p.Ala351Val) c.632C>T (p.Ala211Val) c.615C>T (p.Ser205=) c.516C>T (p.Ser172=) c.2106+228236G>A (n.2106+228236G>A) c.620C>T (p.Ala207Val) n.203C>T c.924C>T (p.Ser308=) | COSMIC |
| 3 | g.184372943G>C | CA355462096 | EIF2B5,THPO | c.1052C>G (p.Ala351Gly) c.632C>G (p.Ala211Gly) c.615C>G (p.Ser205Arg) c.516C>G (p.Ser172Arg) c.2106+228236G>C (n.2106+228236G>C) c.620C>G (p.Ala207Gly) n.203C>G c.924C>G (p.Ser308Arg) | |
| 3 | g.184372943G>T | CA355462095 | EIF2B5,THPO | c.1052C>A (p.Ala351Asp) c.632C>A (p.Ala211Asp) c.615C>A (p.Ser205Arg) c.516C>A (p.Ser172Arg) c.2106+228236G>T (n.2106+228236G>T) c.620C>A (p.Ala207Asp) n.203C>A c.924C>A (p.Ser308Arg) | |
| 3 | g.184372943_184372944delinsGC | CA1425997883 | EIF2B5,THPO | c.1051_1052delinsGC (p.Ala351=) c.631_632delinsGC (p.Ala211=) c.614_615delinsGC (p.Ser205=) c.515_516delinsGC (p.Ser172=) c.2106+228236_2106+228237delinsGC (n.2106+228236_2106+228237delinsGC) c.619_620delinsGC (p.Ala207=) n.202_203delinsGC c.923_924delinsGC (p.Ser308=) | |
| 3 | g.184372944del | CA437332078 | EIF2B5,THPO | c.1051del (p.Ala351ProfsTer9) c.631del (p.Ala211ProfsTer9) c.614del (p.Ser205ThrfsTer?) c.515del (p.Ser172ThrfsTer?) c.2106+228237del (n.2106+228237del) c.619del (p.Ala207ProfsTer9) n.202del c.923del (p.Ser308ThrfsTer?) | dbSNP |
| 3 | g.184372944C>A | CA355462097 | EIF2B5,THPO | c.1051G>T (p.Ala351Ser) c.631G>T (p.Ala211Ser) c.614G>T (p.Ser205Ile) c.515G>T (p.Ser172Ile) c.2106+228237C>A (n.2106+228237C>A) c.619G>T (p.Ala207Ser) n.202G>T c.923G>T (p.Ser308Ile) | |
| 3 | g.184372944C>G | CA355462099 | EIF2B5,THPO | c.1051G>C (p.Ala351Pro) c.631G>C (p.Ala211Pro) c.614G>C (p.Ser205Thr) c.515G>C (p.Ser172Thr) c.2106+228237C>G (n.2106+228237C>G) c.619G>C (p.Ala207Pro) n.202G>C c.923G>C (p.Ser308Thr) | gnomAD v4 |
| 3 | g.184372944C>T | CA355462098 | EIF2B5,THPO | c.1051G>A (p.Ala351Thr) c.631G>A (p.Ala211Thr) c.614G>A (p.Ser205Asn) c.515G>A (p.Ser172Asn) c.2106+228237C>T (n.2106+228237C>T) c.619G>A (p.Ala207Thr) n.202G>A c.923G>A (p.Ser308Asn) | |
| 3 | g.184372945del | CA355462101 | EIF2B5,THPO | c.1050del (p.Ala351ProfsTer9) c.630del (p.Ala211ProfsTer9) c.613del (p.Ser205AlafsTer?) c.514del (p.Ser172AlafsTer?) c.2106+228238del (n.2106+228238del) c.618del (p.Ala207ProfsTer9) n.201del c.922del (p.Ser308AlafsTer?) | |
| 3 | g.184372945T>A | CA355462100 | EIF2B5,THPO | c.1050A>T (p.Ser350=) c.630A>T (p.Ser210=) c.613A>T (p.Ser205Cys) c.514A>T (p.Ser172Cys) c.2106+228238T>A (n.2106+228238T>A) c.618A>T (p.Ser206=) n.201A>T c.922A>T (p.Ser308Cys) | |
| 3 | g.184372945T>C | CA355462102 | EIF2B5,THPO | c.1050A>G (p.Ser350=) c.630A>G (p.Ser210=) c.613A>G (p.Ser205Gly) c.514A>G (p.Ser172Gly) c.2106+228238T>C (n.2106+228238T>C) c.618A>G (p.Ser206=) n.201A>G c.922A>G (p.Ser308Gly) | |
| 3 | g.184372945T>G | CA355462103 | EIF2B5,THPO | c.1050A>C (p.Ser350=) c.630A>C (p.Ser210=) c.613A>C (p.Ser205Arg) c.514A>C (p.Ser172Arg) c.2106+228238T>G (n.2106+228238T>G) c.618A>C (p.Ser206=) n.201A>C c.922A>C (p.Ser308Arg) | |
| 3 | g.184372946G>A | CA355462104 | EIF2B5,THPO | c.1049C>T (p.Ser350Leu) c.629C>T (p.Ser210Leu) c.612C>T (p.Leu204=) c.513C>T (p.Leu171=) c.2106+228239G>A (n.2106+228239G>A) c.617C>T (p.Ser206Leu) n.200C>T c.921C>T (p.Leu307=) | dbSNP gnomAD v4 |
| 3 | g.184372946G>C | CA355462105 | EIF2B5,THPO | c.1049C>G (p.Ser350Ter) c.629C>G (p.Ser210Ter) c.612C>G (p.Leu204=) c.513C>G (p.Leu171=) c.2106+228239G>C (n.2106+228239G>C) c.617C>G (p.Ser206Ter) n.200C>G c.921C>G (p.Leu307=) | |
| 3 | g.184372946G= | CA1425997884 | EIF2B5,THPO | c.1049C= (p.Ser350=) c.629C= (p.Ser210=) c.612C= (p.Leu204=) c.513C= (p.Leu171=) c.2106+228239G= (n.2106+228239G=) c.617C= (p.Ser206=) n.200C= c.921C= (p.Leu307=) | |
| 3 | g.184372946G>T | CA355462106 | EIF2B5,THPO | c.1049C>A (p.Ser350Ter) c.629C>A (p.Ser210Ter) c.612C>A (p.Leu204=) c.513C>A (p.Leu171=) c.2106+228239G>T (n.2106+228239G>T) c.617C>A (p.Ser206Ter) n.200C>A c.921C>A (p.Leu307=) | |
| 3 | g.184372947A>C | CA355462107 | EIF2B5,THPO | c.1048T>G (p.Ser350Ala) c.628T>G (p.Ser210Ala) c.611T>G (p.Leu204Arg) c.512T>G (p.Leu171Arg) c.2106+228240A>C (n.2106+228240A>C) c.616T>G (p.Ser206Ala) n.199T>G c.920T>G (p.Leu307Arg) | |
| 3 | g.184372947A>G | CA355462108 | EIF2B5,THPO | c.1048T>C (p.Ser350Pro) c.628T>C (p.Ser210Pro) c.611T>C (p.Leu204Pro) c.512T>C (p.Leu171Pro) c.2106+228240A>G (n.2106+228240A>G) c.616T>C (p.Ser206Pro) n.199T>C c.920T>C (p.Leu307Pro) | |
| 3 | g.184372947A>T | CA355462109 | EIF2B5,THPO | c.1048T>A (p.Ser350Thr) c.628T>A (p.Ser210Thr) c.611T>A (p.Leu204His) c.512T>A (p.Leu171His) c.2106+228240A>T (n.2106+228240A>T) c.616T>A (p.Ser206Thr) n.199T>A c.920T>A (p.Leu307His) | |
| 3 | g.184372947_184372949delinsAGG | CA1425997885 | EIF2B5,THPO | c.1046_1048delinsCCT (p.Ala349=) c.626_628delinsCCT (p.Ala209=) c.609_611delinsCCT (p.Cys203=) c.510_512delinsCCT (p.Cys170=) c.2106+228240_2106+228242delinsAGG (n.2106+228240_2106+228242delinsAGG) c.614_616delinsCCT (p.Ala205=) n.197_199delinsCCT c.918_920delinsCCT (p.Cys306=) | |
| 3 | g.184372948G>A | CA355462110 | EIF2B5,THPO | c.1047C>T (p.Ala349=) c.627C>T (p.Ala209=) c.610C>T (p.Leu204Phe) c.511C>T (p.Leu171Phe) c.2106+228241G>A (n.2106+228241G>A) c.615C>T (p.Ala205=) n.198C>T c.919C>T (p.Leu307Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184372948G>C | CA355462111 | EIF2B5,THPO | c.1047C>G (p.Ala349=) c.627C>G (p.Ala209=) c.610C>G (p.Leu204Val) c.511C>G (p.Leu171Val) c.2106+228241G>C (n.2106+228241G>C) c.615C>G (p.Ala205=) n.198C>G c.919C>G (p.Leu307Val) | |
| 3 | g.184372948G= | CA1425997886 | EIF2B5,THPO | c.1047C= (p.Ala349=) c.627C= (p.Ala209=) c.610C= (p.Leu204=) c.511C= (p.Leu171=) c.2106+228241G= (n.2106+228241G=) c.615C= (p.Ala205=) n.198C= c.919C= (p.Leu307=) | |
| 3 | g.184372948G>T | CA355462112 | EIF2B5,THPO | c.1047C>A (p.Ala349=) c.627C>A (p.Ala209=) c.610C>A (p.Leu204Ile) c.511C>A (p.Leu171Ile) c.2106+228241G>T (n.2106+228241G>T) c.615C>A (p.Ala205=) n.198C>A c.919C>A (p.Leu307Ile) | dbSNP |
| 3 | g.184372948_184372949del | CA88912372 | EIF2B5,THPO | c.1046_1047del (p.Ala349ValfsTer?) c.626_627del (p.Ala209ValfsTer?) c.609_610del (p.Leu204GlnfsTer10) c.510_511del (p.Leu171GlnfsTer10) c.2106+228241_2106+228242del (n.2106+228241_2106+228242del) c.614_615del (p.Ala205ValfsTer?) n.197_198del c.918_919del (p.Leu307GlnfsTer10) | dbSNP |
| 3 | g.184372949G>A | CA355462116 | EIF2B5,THPO | c.1046C>T (p.Ala349Val) c.626C>T (p.Ala209Val) c.609C>T (p.Cys203=) c.510C>T (p.Cys170=) c.2106+228242G>A (n.2106+228242G>A) c.614C>T (p.Ala205Val) n.197C>T c.918C>T (p.Cys306=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372949G>C | CA355462113 | EIF2B5,THPO | c.1046C>G (p.Ala349Gly) c.626C>G (p.Ala209Gly) c.609C>G (p.Cys203Trp) c.510C>G (p.Cys170Trp) c.2106+228242G>C (n.2106+228242G>C) c.614C>G (p.Ala205Gly) n.197C>G c.918C>G (p.Cys306Trp) | |
| 3 | g.184372949G= | CA1425997887 | EIF2B5,THPO | c.1046C= (p.Ala349=) c.626C= (p.Ala209=) c.609C= (p.Cys203=) c.510C= (p.Cys170=) c.2106+228242G= (n.2106+228242G=) c.614C= (p.Ala205=) n.197C= c.918C= (p.Cys306=) | |
| 3 | g.184372949G>T | CA355462115 | EIF2B5,THPO | c.1046C>A (p.Ala349Asp) c.626C>A (p.Ala209Asp) c.609C>A (p.Cys203Ter) c.510C>A (p.Cys170Ter) c.2106+228242G>T (n.2106+228242G>T) c.614C>A (p.Ala205Asp) n.197C>A c.918C>A (p.Cys306Ter) | |
| 3 | g.184372949_184372950del | CA355462114 | EIF2B5,THPO | c.1045_1046del (p.Ala349LeufsTer?) c.625_626del (p.Ala209LeufsTer?) c.608_609del (p.Cys203SerfsTer11) c.509_510del (p.Cys170SerfsTer11) c.2106+228242_2106+228243del (n.2106+228242_2106+228243del) c.613_614del (p.Ala205LeufsTer?) n.196_197del c.917_918del (p.Cys306SerfsTer11) | |
| 3 | g.184372950C>A | CA355462117 | EIF2B5,THPO | c.1045G>T (p.Ala349Ser) c.625G>T (p.Ala209Ser) c.608G>T (p.Cys203Phe) c.509G>T (p.Cys170Phe) c.2106+228243C>A (n.2106+228243C>A) c.613G>T (p.Ala205Ser) n.196G>T c.917G>T (p.Cys306Phe) | |
| 3 | g.184372950C>G | CA355462118 | EIF2B5,THPO | c.1045G>C (p.Ala349Pro) c.625G>C (p.Ala209Pro) c.608G>C (p.Cys203Ser) c.509G>C (p.Cys170Ser) c.2106+228243C>G (n.2106+228243C>G) c.613G>C (p.Ala205Pro) n.196G>C c.917G>C (p.Cys306Ser) | |
| 3 | g.184372950C>T | CA355462119 | EIF2B5,THPO | c.1045G>A (p.Ala349Thr) c.625G>A (p.Ala209Thr) c.608G>A (p.Cys203Tyr) c.509G>A (p.Cys170Tyr) c.2106+228243C>T (n.2106+228243C>T) c.613G>A (p.Ala205Thr) n.196G>A c.917G>A (p.Cys306Tyr) | |
| 3 | g.184372951A= | CA1425997888 | EIF2B5,THPO | c.1044T= (p.Thr348=) c.624T= (p.Thr208=) c.607T= (p.Cys203=) c.508T= (p.Cys170=) c.2106+228244A= (n.2106+228244A=) c.612T= (p.Thr204=) n.195T= c.916T= (p.Cys306=) | |
| 3 | g.184372951A>C | CA355462120 | EIF2B5,THPO | c.1044T>G (p.Thr348=) c.624T>G (p.Thr208=) c.607T>G (p.Cys203Gly) c.508T>G (p.Cys170Gly) c.2106+228244A>C (n.2106+228244A>C) c.612T>G (p.Thr204=) n.195T>G c.916T>G (p.Cys306Gly) | |
| 3 | g.184372951A>G | CA2734901 | EIF2B5,THPO | c.1044T>C (p.Thr348=) c.624T>C (p.Thr208=) c.607T>C (p.Cys203Arg) c.508T>C (p.Cys170Arg) c.2106+228244A>G (n.2106+228244A>G) c.612T>C (p.Thr204=) n.195T>C c.916T>C (p.Cys306Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372951A>T | CA355462121 | EIF2B5,THPO | c.1044T>A (p.Thr348=) c.624T>A (p.Thr208=) c.607T>A (p.Cys203Ser) c.508T>A (p.Cys170Ser) c.2106+228244A>T (n.2106+228244A>T) c.612T>A (p.Thr204=) n.195T>A c.916T>A (p.Cys306Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184372952G>A | CA355462122 | EIF2B5,THPO | c.1043C>T (p.Thr348Ile) c.623C>T (p.Thr208Ile) c.606C>T (p.His202=) c.507C>T (p.His169=) c.2106+228245G>A (n.2106+228245G>A) c.611C>T (p.Thr204Ile) n.194C>T c.915C>T (p.His305=) | dbSNP gnomAD v2 |
| 3 | g.184372952G>C | CA2734902 | EIF2B5,THPO | c.1043C>G (p.Thr348Ser) c.623C>G (p.Thr208Ser) c.606C>G (p.His202Gln) c.507C>G (p.His169Gln) c.2106+228245G>C (n.2106+228245G>C) c.611C>G (p.Thr204Ser) n.194C>G c.915C>G (p.His305Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372952G= | CA1425997889 | EIF2B5,THPO | c.1043C= (p.Thr348=) c.623C= (p.Thr208=) c.606C= (p.His202=) c.507C= (p.His169=) c.2106+228245G= (n.2106+228245G=) c.611C= (p.Thr204=) n.194C= c.915C= (p.His305=) | |
| 3 | g.184372952G>T | CA355462123 | EIF2B5,THPO | c.1043C>A (p.Thr348Asn) c.623C>A (p.Thr208Asn) c.606C>A (p.His202Gln) c.507C>A (p.His169Gln) c.2106+228245G>T (n.2106+228245G>T) c.611C>A (p.Thr204Asn) n.194C>A c.915C>A (p.His305Gln) | |
| 3 | g.184372953T>A | CA355462126 | EIF2B5,THPO | c.1042A>T (p.Thr348Ser) c.622A>T (p.Thr208Ser) c.605A>T (p.His202Leu) c.506A>T (p.His169Leu) c.2106+228246T>A (n.2106+228246T>A) c.610A>T (p.Thr204Ser) n.193A>T c.914A>T (p.His305Leu) | |
| 3 | g.184372953T>C | CA355462125 | EIF2B5,THPO | c.1042A>G (p.Thr348Ala) c.622A>G (p.Thr208Ala) c.605A>G (p.His202Arg) c.506A>G (p.His169Arg) c.2106+228246T>C (n.2106+228246T>C) c.610A>G (p.Thr204Ala) n.193A>G c.914A>G (p.His305Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184372953T>G | CA355462124 | EIF2B5,THPO | c.1042A>C (p.Thr348Pro) c.622A>C (p.Thr208Pro) c.605A>C (p.His202Pro) c.506A>C (p.His169Pro) c.2106+228246T>G (n.2106+228246T>G) c.610A>C (p.Thr204Pro) n.193A>C c.914A>C (p.His305Pro) | gnomAD v4 |
| 3 | g.184372953T= | CA1425997890 | EIF2B5,THPO | c.1042A= (p.Thr348=) c.622A= (p.Thr208=) c.605A= (p.His202=) c.506A= (p.His169=) c.2106+228246T= (n.2106+228246T=) c.610A= (p.Thr204=) n.193A= c.914A= (p.His305=) | |
| 3 | g.184372954G>A | CA355462127 | EIF2B5,THPO | c.1041C>T (p.Phe347=) c.621C>T (p.Phe207=) c.604C>T (p.His202Tyr) c.505C>T (p.His169Tyr) c.2106+228247G>A (n.2106+228247G>A) c.609C>T (p.Phe203=) n.192C>T c.913C>T (p.His305Tyr) | |
| 3 | g.184372954G>C | CA355462128 | EIF2B5,THPO | c.1041C>G (p.Phe347Leu) c.621C>G (p.Phe207Leu) c.604C>G (p.His202Asp) c.505C>G (p.His169Asp) c.2106+228247G>C (n.2106+228247G>C) c.609C>G (p.Phe203Leu) n.192C>G c.913C>G (p.His305Asp) | |
| 3 | g.184372954G= | CA1425997891 | EIF2B5,THPO | c.1041C= (p.Phe347=) c.621C= (p.Phe207=) c.604C= (p.His202=) c.505C= (p.His169=) c.2106+228247G= (n.2106+228247G=) c.609C= (p.Phe203=) n.192C= c.913C= (p.His305=) | |
| 3 | g.184372954G>T | CA2734903 | EIF2B5,THPO | c.1041C>A (p.Phe347Leu) c.621C>A (p.Phe207Leu) c.604C>A (p.His202Asn) c.505C>A (p.His169Asn) c.2106+228247G>T (n.2106+228247G>T) c.609C>A (p.Phe203Leu) n.192C>A c.913C>A (p.His305Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.184372955A= | CA1425997892 | EIF2B5,THPO | c.1040T= (p.Phe347=) c.620T= (p.Phe207=) c.603T= (p.Leu201=) c.504T= (p.Leu168=) c.2106+228248A= (n.2106+228248A=) c.608T= (p.Phe203=) n.191T= c.912T= (p.Leu304=) | |
| 3 | g.184372955A>C | CA2734904 | EIF2B5,THPO | c.1040T>G (p.Phe347Cys) c.620T>G (p.Phe207Cys) c.603T>G (p.Leu201=) c.504T>G (p.Leu168=) c.2106+228248A>C (n.2106+228248A>C) c.608T>G (p.Phe203Cys) n.191T>G c.912T>G (p.Leu304=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372955A>G | CA355462129 | EIF2B5,THPO | c.1040T>C (p.Phe347Ser) c.620T>C (p.Phe207Ser) c.603T>C (p.Leu201=) c.504T>C (p.Leu168=) c.2106+228248A>G (n.2106+228248A>G) c.608T>C (p.Phe203Ser) n.191T>C c.912T>C (p.Leu304=) | |
| 3 | g.184372955A>T | CA355462130 | EIF2B5,THPO | c.1040T>A (p.Phe347Tyr) c.620T>A (p.Phe207Tyr) c.603T>A (p.Leu201=) c.504T>A (p.Leu168=) c.2106+228248A>T (n.2106+228248A>T) c.608T>A (p.Phe203Tyr) n.191T>A c.912T>A (p.Leu304=) | |
| 3 | g.184372956A>C | CA355462131 | EIF2B5,THPO | c.1039T>G (p.Phe347Val) c.619T>G (p.Phe207Val) c.602T>G (p.Leu201Arg) c.503T>G (p.Leu168Arg) c.2106+228249A>C (n.2106+228249A>C) c.607T>G (p.Phe203Val) n.190T>G c.911T>G (p.Leu304Arg) | |
| 3 | g.184372956A>G | CA355462132 | EIF2B5,THPO | c.1039T>C (p.Phe347Leu) c.619T>C (p.Phe207Leu) c.602T>C (p.Leu201Pro) c.503T>C (p.Leu168Pro) c.2106+228249A>G (n.2106+228249A>G) c.607T>C (p.Phe203Leu) n.190T>C c.911T>C (p.Leu304Pro) | gnomAD v4 |
| 3 | g.184372956A>T | CA355462133 | EIF2B5,THPO | c.1039T>A (p.Phe347Ile) c.619T>A (p.Phe207Ile) c.602T>A (p.Leu201His) c.503T>A (p.Leu168His) c.2106+228249A>T (n.2106+228249A>T) c.607T>A (p.Phe203Ile) n.190T>A c.911T>A (p.Leu304His) | |
| 3 | g.184372956_184372958dup | CA903708436 | EIF2B5,THPO | c.1037_1039dup (p.Asn346_Phe347insTyr) c.617_619dup (p.Asn206_Phe207insTyr) c.600_602dup (p.Leu201_His202insLeu) c.501_503dup (p.Leu168_His169insLeu) c.2106+228249_2106+228251dup (n.2106+228249_2106+228251dup) c.605_607dup (p.Asn202_Phe203insTyr) n.188_190dup c.909_911dup (p.Leu304_His305insLeu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.184372957G>A | CA355462134 | EIF2B5,THPO | c.1038C>T (p.Asn346=) c.618C>T (p.Asn206=) c.601C>T (p.Leu201Phe) c.502C>T (p.Leu168Phe) c.2106+228250G>A (n.2106+228250G>A) c.606C>T (p.Asn202=) n.189C>T c.910C>T (p.Leu304Phe) | |
| 3 | g.184372957G>C | CA355462135 | EIF2B5,THPO | c.1038C>G (p.Asn346Lys) c.618C>G (p.Asn206Lys) c.601C>G (p.Leu201Val) c.502C>G (p.Leu168Val) c.2106+228250G>C (n.2106+228250G>C) c.606C>G (p.Asn202Lys) n.189C>G c.910C>G (p.Leu304Val) | |
| 3 | g.184372957G>T | CA355462136 | EIF2B5,THPO | c.1038C>A (p.Asn346Lys) c.618C>A (p.Asn206Lys) c.601C>A (p.Leu201Ile) c.502C>A (p.Leu168Ile) c.2106+228250G>T (n.2106+228250G>T) c.606C>A (p.Asn202Lys) n.189C>A c.910C>A (p.Leu304Ile) | |
| 3 | g.184372958T>A | CA355462138 | EIF2B5,THPO | c.1037A>T (p.Asn346Ile) c.617A>T (p.Asn206Ile) c.600A>T (p.Lys200Asn) c.501A>T (p.Lys167Asn) c.2106+228251T>A (n.2106+228251T>A) c.605A>T (p.Asn202Ile) n.188A>T c.909A>T (p.Lys303Asn) | |
| 3 | g.184372958T>C | CA2734905 | EIF2B5,THPO | c.1037A>G (p.Asn346Ser) c.617A>G (p.Asn206Ser) c.600A>G (p.Lys200=) c.501A>G (p.Lys167=) c.2106+228251T>C (n.2106+228251T>C) c.605A>G (p.Asn202Ser) n.188A>G c.909A>G (p.Lys303=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.184372958T>G | CA355462137 | EIF2B5,THPO | c.1037A>C (p.Asn346Thr) c.617A>C (p.Asn206Thr) c.600A>C (p.Lys200Asn) c.501A>C (p.Lys167Asn) c.2106+228251T>G (n.2106+228251T>G) c.605A>C (p.Asn202Thr) n.188A>C c.909A>C (p.Lys303Asn) | gnomAD v4 |
| 3 | g.184372958T= | CA1425997893 | EIF2B5,THPO | c.1037A= (p.Asn346=) c.617A= (p.Asn206=) c.600A= (p.Lys200=) c.501A= (p.Lys167=) c.2106+228251T= (n.2106+228251T=) c.605A= (p.Asn202=) n.188A= c.909A= (p.Lys303=) | |
| 3 | g.184372959T>A | CA355462139 | EIF2B5,THPO | c.1036A>T (p.Asn346Tyr) c.616A>T (p.Asn206Tyr) c.599A>T (p.Lys200Ile) c.500A>T (p.Lys167Ile) c.2106+228252T>A (n.2106+228252T>A) c.604A>T (p.Asn202Tyr) n.187A>T c.908A>T (p.Lys303Ile) | |
| 3 | g.184372959T>C | CA355462140 | EIF2B5,THPO | c.1036A>G (p.Asn346Asp) c.616A>G (p.Asn206Asp) c.599A>G (p.Lys200Arg) c.500A>G (p.Lys167Arg) c.2106+228252T>C (n.2106+228252T>C) c.604A>G (p.Asn202Asp) n.187A>G c.908A>G (p.Lys303Arg) | |
| 3 | g.184372959T>G | CA355462141 | EIF2B5,THPO | c.1036A>C (p.Asn346His) c.616A>C (p.Asn206His) c.599A>C (p.Lys200Thr) c.500A>C (p.Lys167Thr) c.2106+228252T>G (n.2106+228252T>G) c.604A>C (p.Asn202His) n.187A>C c.908A>C (p.Lys303Thr) | dbSNP |
| 3 | g.184372959T= | CA1425997894 | EIF2B5,THPO | c.1036A= (p.Asn346=) c.616A= (p.Asn206=) c.599A= (p.Lys200=) c.500A= (p.Lys167=) c.2106+228252T= (n.2106+228252T=) c.604A= (p.Asn202=) n.187A= c.908A= (p.Lys303=) | |
| 3 | g.184372960T>A | CA355462142 | EIF2B5,THPO | c.1035A>T (p.Thr345=) c.615A>T (p.Thr205=) c.598A>T (p.Lys200Ter) c.499A>T (p.Lys167Ter) c.2106+228253T>A (n.2106+228253T>A) c.603A>T (p.Thr201=) n.186A>T c.907A>T (p.Lys303Ter) | |
| 3 | g.184372960T>C | CA355462143 | EIF2B5,THPO | c.1035A>G (p.Thr345=) c.615A>G (p.Thr205=) c.598A>G (p.Lys200Glu) c.499A>G (p.Lys167Glu) c.2106+228253T>C (n.2106+228253T>C) c.603A>G (p.Thr201=) n.186A>G c.907A>G (p.Lys303Glu) | |
| 3 | g.184372960T>G | CA355462144 | EIF2B5,THPO | c.1035A>C (p.Thr345=) c.615A>C (p.Thr205=) c.598A>C (p.Lys200Gln) c.499A>C (p.Lys167Gln) c.2106+228253T>G (n.2106+228253T>G) c.603A>C (p.Thr201=) n.186A>C c.907A>C (p.Lys303Gln) | |
| 3 | g.184372961G>A | CA355462145 | EIF2B5,THPO | c.1034C>T (p.Thr345Ile) c.614C>T (p.Thr205Ile) c.597C>T (p.Asp199=) c.498C>T (p.Asp166=) c.2106+228254G>A (n.2106+228254G>A) c.602C>T (p.Thr201Ile) n.185C>T c.906C>T (p.Asp302=) | |
| 3 | g.184372961G>C | CA355462146 | EIF2B5,THPO | c.1034C>G (p.Thr345Arg) c.614C>G (p.Thr205Arg) c.597C>G (p.Asp199Glu) c.498C>G (p.Asp166Glu) c.2106+228254G>C (n.2106+228254G>C) c.602C>G (p.Thr201Arg) n.185C>G c.906C>G (p.Asp302Glu) | |
| 3 | g.184372961G>T | CA355462147 | EIF2B5,THPO | c.1034C>A (p.Thr345Lys) c.614C>A (p.Thr205Lys) c.597C>A (p.Asp199Glu) c.498C>A (p.Asp166Glu) c.2106+228254G>T (n.2106+228254G>T) c.602C>A (p.Thr201Lys) n.185C>A c.906C>A (p.Asp302Glu) | |
| 3 | g.184372962T>A | CA355462148 | EIF2B5,THPO | c.1033A>T (p.Thr345Ser) c.613A>T (p.Thr205Ser) c.596A>T (p.Asp199Val) c.497A>T (p.Asp166Val) c.2106+228255T>A (n.2106+228255T>A) c.601A>T (p.Thr201Ser) n.184A>T c.905A>T (p.Asp302Val) | |
| 3 | g.184372962T>C | CA2734906 | EIF2B5,THPO | c.1033A>G (p.Thr345Ala) c.613A>G (p.Thr205Ala) c.596A>G (p.Asp199Gly) c.497A>G (p.Asp166Gly) c.2106+228255T>C (n.2106+228255T>C) c.601A>G (p.Thr201Ala) n.184A>G c.905A>G (p.Asp302Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.184372962T>G | CA355462149 | EIF2B5,THPO | c.1033A>C (p.Thr345Pro) c.613A>C (p.Thr205Pro) c.596A>C (p.Asp199Ala) c.497A>C (p.Asp166Ala) c.2106+228255T>G (n.2106+228255T>G) c.601A>C (p.Thr201Pro) n.184A>C c.905A>C (p.Asp302Ala) | |
| 3 | g.184372962T= | CA1425997895 | EIF2B5,THPO | c.1033A= (p.Thr345=) c.613A= (p.Thr205=) c.596A= (p.Asp199=) c.497A= (p.Asp166=) c.2106+228255T= (n.2106+228255T=) c.601A= (p.Thr201=) n.184A= c.905A= (p.Asp302=) | |
| 3 | g.184372963C>A | CA355462151 | EIF2B5,THPO | c.1032G>T (p.Glu344Asp) c.612G>T (p.Glu204Asp) c.595G>T (p.Asp199Tyr) c.496G>T (p.Asp166Tyr) c.2106+228256C>A (n.2106+228256C>A) c.600G>T (p.Glu200Asp) n.183G>T c.904G>T (p.Asp302Tyr) | |
| 3 | g.184372963C>G | CA355462152 | EIF2B5,THPO | c.1032G>C (p.Glu344Asp) c.612G>C (p.Glu204Asp) c.595G>C (p.Asp199His) c.496G>C (p.Asp166His) c.2106+228256C>G (n.2106+228256C>G) c.600G>C (p.Glu200Asp) n.183G>C c.904G>C (p.Asp302His) | |
| 3 | g.184372963C>T | CA355462150 | EIF2B5,THPO | c.1032G>A (p.Glu344=) c.612G>A (p.Glu204=) c.595G>A (p.Asp199Asn) c.496G>A (p.Asp166Asn) c.2106+228256C>T (n.2106+228256C>T) c.600G>A (p.Glu200=) n.183G>A c.904G>A (p.Asp302Asn) | gnomAD v4 |
| 3 | g.184372964T>A | CA355462155 | EIF2B5,THPO | c.1031A>T (p.Glu344Val) c.611A>T (p.Glu204Val) c.594A>T (p.Gly198=) c.495A>T (p.Gly165=) c.2106+228257T>A (n.2106+228257T>A) c.599A>T (p.Glu200Val) n.182A>T c.903A>T (p.Gly301=) | dbSNP |
| 3 | g.184372964T>C | CA355462153 | EIF2B5,THPO | c.1031A>G (p.Glu344Gly) c.611A>G (p.Glu204Gly) c.594A>G (p.Gly198=) c.495A>G (p.Gly165=) c.2106+228257T>C (n.2106+228257T>C) c.599A>G (p.Glu200Gly) n.182A>G c.903A>G (p.Gly301=) | |
| 3 | g.184372964T>G | CA355462154 | EIF2B5,THPO | c.1031A>C (p.Glu344Ala) c.611A>C (p.Glu204Ala) c.594A>C (p.Gly198=) c.495A>C (p.Gly165=) c.2106+228257T>G (n.2106+228257T>G) c.599A>C (p.Glu200Ala) n.182A>C c.903A>C (p.Gly301=) | |
| 3 | g.184372964T= | CA1425997896 | EIF2B5,THPO | c.1031A= (p.Glu344=) c.611A= (p.Glu204=) c.594A= (p.Gly198=) c.495A= (p.Gly165=) c.2106+228257T= (n.2106+228257T=) c.599A= (p.Glu200=) n.182A= c.903A= (p.Gly301=) | |
| 3 | g.184372965C>A | CA355462156 | EIF2B5,THPO | c.1030G>T (p.Glu344Ter) c.610G>T (p.Glu204Ter) c.593G>T (p.Gly198Val) c.494G>T (p.Gly165Val) c.2106+228258C>A (n.2106+228258C>A) c.598G>T (p.Glu200Ter) n.181G>T c.902G>T (p.Gly301Val) | |
| 3 | g.184372965C>G | CA355462157 | EIF2B5,THPO | c.1030G>C (p.Glu344Gln) c.610G>C (p.Glu204Gln) c.593G>C (p.Gly198Ala) c.494G>C (p.Gly165Ala) c.2106+228258C>G (n.2106+228258C>G) c.598G>C (p.Glu200Gln) n.181G>C c.902G>C (p.Gly301Ala) | gnomAD v4 |
| 3 | g.184372965C>T | CA355462158 | EIF2B5,THPO | c.1030G>A (p.Glu344Lys) c.610G>A (p.Glu204Lys) c.593G>A (p.Gly198Glu) c.494G>A (p.Gly165Glu) c.2106+228258C>T (n.2106+228258C>T) c.598G>A (p.Glu200Lys) n.181G>A c.902G>A (p.Gly301Glu) | gnomAD v4 |
| 3 | g.184372966dup | CA2734907 | EIF2B5,THPO | c.1030dup (p.Glu344GlyfsTer?) c.610dup (p.Glu204GlyfsTer?) c.593dup (p.Asp199ArgfsTer16) c.494dup (p.Asp166ArgfsTer16) c.2106+228259dup (n.2106+228259dup) c.598dup (p.Glu200GlyfsTer?) n.181dup c.902dup (p.Asp302ArgfsTer16) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372966C>A | CA355462159 | EIF2B5,THPO | c.1029G>T (p.Leu343Phe) c.609G>T (p.Leu203Phe) c.592G>T (p.Gly198Ter) c.493G>T (p.Gly165Ter) c.2106+228259C>A (n.2106+228259C>A) c.597G>T (p.Leu199Phe) n.180G>T c.901G>T (p.Gly301Ter) | |
| 3 | g.184372966C>G | CA355462160 | EIF2B5,THPO | c.1029G>C (p.Leu343Phe) c.609G>C (p.Leu203Phe) c.592G>C (p.Gly198Arg) c.493G>C (p.Gly165Arg) c.2106+228259C>G (n.2106+228259C>G) c.597G>C (p.Leu199Phe) n.180G>C c.901G>C (p.Gly301Arg) | |
| 3 | g.184372966C>T | CA355462161 | EIF2B5,THPO | c.1029G>A (p.Leu343=) c.609G>A (p.Leu203=) c.592G>A (p.Gly198Arg) c.493G>A (p.Gly165Arg) c.2106+228259C>T (n.2106+228259C>T) c.597G>A (p.Leu199=) n.180G>A c.901G>A (p.Gly301Arg) | |
| 3 | g.184372967A>C | CA355462162 | EIF2B5,THPO | c.1028T>G (p.Leu343Trp) c.608T>G (p.Leu203Trp) c.591T>G (p.Val197=) c.492T>G (p.Val164=) c.2106+228260A>C (n.2106+228260A>C) c.596T>G (p.Leu199Trp) n.179T>G c.900T>G (p.Val300=) | |
| 3 | g.184372967A>G | CA355462163 | EIF2B5,THPO | c.1028T>C (p.Leu343Ser) c.608T>C (p.Leu203Ser) c.591T>C (p.Val197=) c.492T>C (p.Val164=) c.2106+228260A>G (n.2106+228260A>G) c.596T>C (p.Leu199Ser) n.179T>C c.900T>C (p.Val300=) | |
| 3 | g.184372967A>T | CA355462164 | EIF2B5,THPO | c.1028T>A (p.Leu343Ter) c.608T>A (p.Leu203Ter) c.591T>A (p.Val197=) c.492T>A (p.Val164=) c.2106+228260A>T (n.2106+228260A>T) c.596T>A (p.Leu199Ter) n.179T>A c.900T>A (p.Val300=) | |
| 3 | g.184372968A>C | CA355462167 | EIF2B5,THPO | c.1027T>G (p.Leu343Val) c.607T>G (p.Leu203Val) c.590T>G (p.Val197Gly) c.491T>G (p.Val164Gly) c.2106+228261A>C (n.2106+228261A>C) c.595T>G (p.Leu199Val) n.178T>G c.899T>G (p.Val300Gly) | |
| 3 | g.184372968A>G | CA355462165 | EIF2B5,THPO | c.1027T>C (p.Leu343=) c.607T>C (p.Leu203=) c.590T>C (p.Val197Ala) c.491T>C (p.Val164Ala) c.2106+228261A>G (n.2106+228261A>G) c.595T>C (p.Leu199=) n.178T>C c.899T>C (p.Val300Ala) | gnomAD v4 |
| 3 | g.184372968A>T | CA355462166 | EIF2B5,THPO | c.1027T>A (p.Leu343Met) c.607T>A (p.Leu203Met) c.590T>A (p.Val197Asp) c.491T>A (p.Val164Asp) c.2106+228261A>T (n.2106+228261A>T) c.595T>A (p.Leu199Met) n.178T>A c.899T>A (p.Val300Asp) | |
| 3 | g.184372969C>A | CA2734908 | EIF2B5,THPO | c.1026G>T (p.Leu342Phe) c.606G>T (p.Leu202Phe) c.589G>T (p.Val197Phe) c.490G>T (p.Val164Phe) c.2106+228262C>A (n.2106+228262C>A) c.594G>T (p.Leu198Phe) n.177G>T c.898G>T (p.Val300Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372969C= | CA1425997897 | EIF2B5,THPO | c.1026G= (p.Leu342=) c.606G= (p.Leu202=) c.589G= (p.Val197=) c.490G= (p.Val164=) c.2106+228262C= (n.2106+228262C=) c.594G= (p.Leu198=) n.177G= c.898G= (p.Val300=) | |
| 3 | g.184372969C>G | CA355462168 | EIF2B5,THPO | c.1026G>C (p.Leu342Phe) c.606G>C (p.Leu202Phe) c.589G>C (p.Val197Leu) c.490G>C (p.Val164Leu) c.2106+228262C>G (n.2106+228262C>G) c.594G>C (p.Leu198Phe) n.177G>C c.898G>C (p.Val300Leu) | |
| 3 | g.184372969C>T | CA355462169 | EIF2B5,THPO | c.1026G>A (p.Leu342=) c.606G>A (p.Leu202=) c.589G>A (p.Val197Ile) c.490G>A (p.Val164Ile) c.2106+228262C>T (n.2106+228262C>T) c.594G>A (p.Leu198=) n.177G>A c.898G>A (p.Val300Ile) | |
| 3 | g.184372970A>C | CA355462170 | EIF2B5,THPO | c.1025T>G (p.Leu342Trp) c.605T>G (p.Leu202Trp) c.588T>G (p.Ile196Met) c.489T>G (p.Ile163Met) c.2106+228263A>C (n.2106+228263A>C) c.593T>G (p.Leu198Trp) n.176T>G c.897T>G (p.Ile299Met) | |
| 3 | g.184372970A>G | CA355462171 | EIF2B5,THPO | c.1025T>C (p.Leu342Ser) c.605T>C (p.Leu202Ser) c.588T>C (p.Ile196=) c.489T>C (p.Ile163=) c.2106+228263A>G (n.2106+228263A>G) c.593T>C (p.Leu198Ser) n.176T>C c.897T>C (p.Ile299=) | |
| 3 | g.184372970A>T | CA355462172 | EIF2B5,THPO | c.1025T>A (p.Leu342Ter) c.605T>A (p.Leu202Ter) c.588T>A (p.Ile196=) c.489T>A (p.Ile163=) c.2106+228263A>T (n.2106+228263A>T) c.593T>A (p.Leu198Ter) n.176T>A c.897T>A (p.Ile299=) | |
| 3 | g.184372971A>C | CA355462173 | EIF2B5,THPO | c.1024T>G (p.Leu342Val) c.604T>G (p.Leu202Val) c.587T>G (p.Ile196Ser) c.488T>G (p.Ile163Ser) c.2106+228264A>C (n.2106+228264A>C) c.592T>G (p.Leu198Val) n.175T>G c.896T>G (p.Ile299Ser) | |
| 3 | g.184372971A>G | CA355462174 | EIF2B5,THPO | c.1024T>C (p.Leu342=) c.604T>C (p.Leu202=) c.587T>C (p.Ile196Thr) c.488T>C (p.Ile163Thr) c.2106+228264A>G (n.2106+228264A>G) c.592T>C (p.Leu198=) n.175T>C c.896T>C (p.Ile299Thr) | gnomAD v4 |
| 3 | g.184372971A>T | CA355462175 | EIF2B5,THPO | c.1024T>A (p.Leu342Met) c.604T>A (p.Leu202Met) c.587T>A (p.Ile196Asn) c.488T>A (p.Ile163Asn) c.2106+228264A>T (n.2106+228264A>T) c.592T>A (p.Leu198Met) n.175T>A c.896T>A (p.Ile299Asn) | |
| 3 | g.184372972T>A | CA355462176 | EIF2B5,THPO | c.1023A>T (p.Gly341=) c.603A>T (p.Gly201=) c.586A>T (p.Ile196Phe) c.487A>T (p.Ile163Phe) c.2106+228265T>A (n.2106+228265T>A) c.591A>T (p.Gly197=) n.174A>T c.895A>T (p.Ile299Phe) | |
| 3 | g.184372972T>C | CA355462177 | EIF2B5,THPO | c.1023A>G (p.Gly341=) c.603A>G (p.Gly201=) c.586A>G (p.Ile196Val) c.487A>G (p.Ile163Val) c.2106+228265T>C (n.2106+228265T>C) c.591A>G (p.Gly197=) n.174A>G c.895A>G (p.Ile299Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184372972T>G | CA355462178 | EIF2B5,THPO | c.1023A>C (p.Gly341=) c.603A>C (p.Gly201=) c.586A>C (p.Ile196Leu) c.487A>C (p.Ile163Leu) c.2106+228265T>G (n.2106+228265T>G) c.591A>C (p.Gly197=) n.174A>C c.895A>C (p.Ile299Leu) | |
| 3 | g.184372972T= | CA1425997898 | EIF2B5,THPO | c.1023A= (p.Gly341=) c.603A= (p.Gly201=) c.586A= (p.Ile196=) c.487A= (p.Ile163=) c.2106+228265T= (n.2106+228265T=) c.591A= (p.Gly197=) n.174A= c.895A= (p.Ile299=) | |
| 3 | g.184372973C>A | CA355462180 | EIF2B5,THPO | c.1022G>T (p.Gly341Val) c.602G>T (p.Gly201Val) c.585G>T (p.Trp195Cys) c.486G>T (p.Trp162Cys) c.2106+228266C>A (n.2106+228266C>A) c.590G>T (p.Gly197Val) n.173G>T c.894G>T (p.Trp298Cys) | |
| 3 | g.184372973C>G | CA355462181 | EIF2B5,THPO | c.1022G>C (p.Gly341Ala) c.602G>C (p.Gly201Ala) c.585G>C (p.Trp195Cys) c.486G>C (p.Trp162Cys) c.2106+228266C>G (n.2106+228266C>G) c.590G>C (p.Gly197Ala) n.173G>C c.894G>C (p.Trp298Cys) | |
| 3 | g.184372973C>T | CA355462179 | EIF2B5,THPO | c.1022G>A (p.Gly341Glu) c.602G>A (p.Gly201Glu) c.585G>A (p.Trp195Ter) c.486G>A (p.Trp162Ter) c.2106+228266C>T (n.2106+228266C>T) c.590G>A (p.Gly197Glu) n.173G>A c.894G>A (p.Trp298Ter) | |
| 3 | g.184372974C>A | CA355462182 | EIF2B5,THPO | c.1021G>T (p.Gly341Ter) c.601G>T (p.Gly201Ter) c.584G>T (p.Trp195Leu) c.485G>T (p.Trp162Leu) c.2106+228267C>A (n.2106+228267C>A) c.589G>T (p.Gly197Ter) n.172G>T c.893G>T (p.Trp298Leu) | |
| 3 | g.184372974C>G | CA355462183 | EIF2B5,THPO | c.1021G>C (p.Gly341Arg) c.601G>C (p.Gly201Arg) c.584G>C (p.Trp195Ser) c.485G>C (p.Trp162Ser) c.2106+228267C>G (n.2106+228267C>G) c.589G>C (p.Gly197Arg) n.172G>C c.893G>C (p.Trp298Ser) | |
| 3 | g.184372974C>T | CA355462184 | EIF2B5,THPO | c.1021G>A (p.Gly341Arg) c.601G>A (p.Gly201Arg) c.584G>A (p.Trp195Ter) c.485G>A (p.Trp162Ter) c.2106+228267C>T (n.2106+228267C>T) c.589G>A (p.Gly197Arg) n.172G>A c.893G>A (p.Trp298Ter) | |
| 3 | g.184372975A= | CA1425997899 | EIF2B5,THPO | c.1020T= (p.Ser340=) c.600T= (p.Ser200=) c.583T= (p.Trp195=) c.484T= (p.Trp162=) c.2106+228268A= (n.2106+228268A=) c.588T= (p.Ser196=) n.171T= c.892T= (p.Trp298=) | |
| 3 | g.184372975A>C | CA355462185 | EIF2B5,THPO | c.1020T>G (p.Ser340=) c.600T>G (p.Ser200=) c.583T>G (p.Trp195Gly) c.484T>G (p.Trp162Gly) c.2106+228268A>C (n.2106+228268A>C) c.588T>G (p.Ser196=) n.171T>G c.892T>G (p.Trp298Gly) | |
| 3 | g.184372975A>G | CA355462186 | EIF2B5,THPO | c.1020T>C (p.Ser340=) c.600T>C (p.Ser200=) c.583T>C (p.Trp195Arg) c.484T>C (p.Trp162Arg) c.2106+228268A>G (n.2106+228268A>G) c.588T>C (p.Ser196=) n.171T>C c.892T>C (p.Trp298Arg) | |
| 3 | g.184372975A>T | CA2734909 | EIF2B5,THPO | c.1020T>A (p.Ser340=) c.600T>A (p.Ser200=) c.583T>A (p.Trp195Arg) c.484T>A (p.Trp162Arg) c.2106+228268A>T (n.2106+228268A>T) c.588T>A (p.Ser196=) n.171T>A c.892T>A (p.Trp298Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.184372976G>A | CA355462187 | EIF2B5,THPO | c.1019C>T (p.Ser340Phe) c.599C>T (p.Ser200Phe) c.582C>T (p.Phe194=) c.483C>T (p.Phe161=) c.2106+228269G>A (n.2106+228269G>A) c.587C>T (p.Ser196Phe) n.170C>T c.891C>T (p.Phe297=) | |
| 3 | g.184372976G>C | CA355462188 | EIF2B5,THPO | c.1019C>G (p.Ser340Cys) c.599C>G (p.Ser200Cys) c.582C>G (p.Phe194Leu) c.483C>G (p.Phe161Leu) c.2106+228269G>C (n.2106+228269G>C) c.587C>G (p.Ser196Cys) n.170C>G c.891C>G (p.Phe297Leu) | |
| 3 | g.184372976G>T | CA355462189 | EIF2B5,THPO | c.1019C>A (p.Ser340Tyr) c.599C>A (p.Ser200Tyr) c.582C>A (p.Phe194Leu) c.483C>A (p.Phe161Leu) c.2106+228269G>T (n.2106+228269G>T) c.587C>A (p.Ser196Tyr) n.170C>A c.891C>A (p.Phe297Leu) | |
| 3 | g.184372977A>C | CA355462190 | EIF2B5,THPO | c.1018T>G (p.Ser340Ala) c.598T>G (p.Ser200Ala) c.581T>G (p.Phe194Cys) c.482T>G (p.Phe161Cys) c.2106+228270A>C (n.2106+228270A>C) c.586T>G (p.Ser196Ala) n.169T>G c.890T>G (p.Phe297Cys) | |
| 3 | g.184372977A>G | CA355462191 | EIF2B5,THPO | c.1018T>C (p.Ser340Pro) c.598T>C (p.Ser200Pro) c.581T>C (p.Phe194Ser) c.482T>C (p.Phe161Ser) c.2106+228270A>G (n.2106+228270A>G) c.586T>C (p.Ser196Pro) n.169T>C c.890T>C (p.Phe297Ser) | |
| 3 | g.184372977A>T | CA355462192 | EIF2B5,THPO | c.1018T>A (p.Ser340Thr) c.598T>A (p.Ser200Thr) c.581T>A (p.Phe194Tyr) c.482T>A (p.Phe161Tyr) c.2106+228270A>T (n.2106+228270A>T) c.586T>A (p.Ser196Thr) n.169T>A c.890T>A (p.Phe297Tyr) | |
| 3 | g.184372978A= | CA1425997900 | EIF2B5,THPO | c.1017T= (p.Thr339=) c.597T= (p.Thr199=) c.580T= (p.Phe194=) c.481T= (p.Phe161=) c.2106+228271A= (n.2106+228271A=) c.585T= (p.Thr195=) n.168T= c.889T= (p.Phe297=) | |
| 3 | g.184372978A>C | CA355462194 | EIF2B5,THPO | c.1017T>G (p.Thr339=) c.597T>G (p.Thr199=) c.580T>G (p.Phe194Val) c.481T>G (p.Phe161Val) c.2106+228271A>C (n.2106+228271A>C) c.585T>G (p.Thr195=) n.168T>G c.889T>G (p.Phe297Val) | dbSNP |
| 3 | g.184372978A>G | CA2734910 | EIF2B5,THPO | c.1017T>C (p.Thr339=) c.597T>C (p.Thr199=) c.580T>C (p.Phe194Leu) c.481T>C (p.Phe161Leu) c.2106+228271A>G (n.2106+228271A>G) c.585T>C (p.Thr195=) n.168T>C c.889T>C (p.Phe297Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.184372978A>T | CA355462193 | EIF2B5,THPO | c.1017T>A (p.Thr339=) c.597T>A (p.Thr199=) c.580T>A (p.Phe194Ile) c.481T>A (p.Phe161Ile) c.2106+228271A>T (n.2106+228271A>T) c.585T>A (p.Thr195=) n.168T>A c.889T>A (p.Phe297Ile) | |
| 3 | g.184372979G>A | CA355462195 | EIF2B5,THPO | c.1016C>T (p.Thr339Ile) c.596C>T (p.Thr199Ile) c.579C>T (p.Asp193=) c.480C>T (p.Asp160=) c.2106+228272G>A (n.2106+228272G>A) c.584C>T (p.Thr195Ile) n.167C>T c.888C>T (p.Asp296=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.184372979G>C | CA355462196 | EIF2B5,THPO | c.1016C>G (p.Thr339Ser) c.596C>G (p.Thr199Ser) c.579C>G (p.Asp193Glu) c.480C>G (p.Asp160Glu) c.2106+228272G>C (n.2106+228272G>C) c.584C>G (p.Thr195Ser) n.167C>G c.888C>G (p.Asp296Glu) | |
| 3 | g.184372979G= | CA1425997901 | EIF2B5,THPO | c.1016C= (p.Thr339=) c.596C= (p.Thr199=) c.579C= (p.Asp193=) c.480C= (p.Asp160=) c.2106+228272G= (n.2106+228272G=) c.584C= (p.Thr195=) n.167C= c.888C= (p.Asp296=) | |
| 3 | g.184372979G>T | CA355462197 | EIF2B5,THPO | c.1016C>A (p.Thr339Asn) c.596C>A (p.Thr199Asn) c.579C>A (p.Asp193Glu) c.480C>A (p.Asp160Glu) c.2106+228272G>T (n.2106+228272G>T) c.584C>A (p.Thr195Asn) n.167C>A c.888C>A (p.Asp296Glu) | |
| 3 | g.184372980T>A | CA355462198 | EIF2B5,THPO | c.1015A>T (p.Thr339Ser) c.595A>T (p.Thr199Ser) c.578A>T (p.Asp193Val) c.479A>T (p.Asp160Val) c.2106+228273T>A (n.2106+228273T>A) c.583A>T (p.Thr195Ser) n.166A>T c.887A>T (p.Asp296Val) | |
| 3 | g.184372980T>C | CA355462199 | EIF2B5,THPO | c.1015A>G (p.Thr339Ala) c.595A>G (p.Thr199Ala) c.578A>G (p.Asp193Gly) c.479A>G (p.Asp160Gly) c.2106+228273T>C (n.2106+228273T>C) c.583A>G (p.Thr195Ala) n.166A>G c.887A>G (p.Asp296Gly) | dbSNP |
| 3 | g.184372980T>G | CA355462200 | EIF2B5,THPO | c.1015A>C (p.Thr339Pro) c.595A>C (p.Thr199Pro) c.578A>C (p.Asp193Ala) c.479A>C (p.Asp160Ala) c.2106+228273T>G (n.2106+228273T>G) c.583A>C (p.Thr195Pro) n.166A>C c.887A>C (p.Asp296Ala) | |
| 3 | g.184372980T= | CA1425997902 | EIF2B5,THPO | c.1015A= (p.Thr339=) c.595A= (p.Thr199=) c.578A= (p.Asp193=) c.479A= (p.Asp160=) c.2106+228273T= (n.2106+228273T=) c.583A= (p.Thr195=) n.166A= c.887A= (p.Asp296=) | |
| 3 | g.184372981C>A | CA355462203 | EIF2B5,THPO | c.1014G>T (p.Arg338Ser) c.594G>T (p.Arg198Ser) c.577G>T (p.Asp193Tyr) c.478G>T (p.Asp160Tyr) c.2106+228274C>A (n.2106+228274C>A) c.582G>T (p.Arg194Ser) n.165G>T c.886G>T (p.Asp296Tyr) | |
| 3 | g.184372981C>G | CA355462201 | EIF2B5,THPO | c.1014G>C (p.Arg338Ser) c.594G>C (p.Arg198Ser) c.577G>C (p.Asp193His) c.478G>C (p.Asp160His) c.2106+228274C>G (n.2106+228274C>G) c.582G>C (p.Arg194Ser) n.165G>C c.886G>C (p.Asp296His) | |
| 3 | g.184372981C>T | CA355462202 | EIF2B5,THPO | c.1014G>A (p.Arg338=) c.594G>A (p.Arg198=) c.577G>A (p.Asp193Asn) c.478G>A (p.Asp160Asn) c.2106+228274C>T (n.2106+228274C>T) c.582G>A (p.Arg194=) n.165G>A c.886G>A (p.Asp296Asn) | |
| 3 | g.184372982C>A | CA355462204 | EIF2B5,THPO | c.1013G>T (p.Arg338Met) c.593G>T (p.Arg198Met) c.576G>T (p.Gln192His) c.478-1G>T (n.478-1G>T) c.2106+228275C>A (n.2106+228275C>A) c.581G>T (p.Arg194Met) n.165-1G>T c.886-1G>T (n.886-1G>T) | COSMIC |
| 3 | g.184372982C>G | CA355462205 | EIF2B5,THPO | c.1013G>C (p.Arg338Thr) c.593G>C (p.Arg198Thr) c.576G>C (p.Gln192His) c.478-1G>C (n.478-1G>C) c.2106+228275C>G (n.2106+228275C>G) c.581G>C (p.Arg194Thr) n.165-1G>C c.886-1G>C (n.886-1G>C) | |
| 3 | g.184372982C>T | CA355462206 | EIF2B5,THPO | c.1013G>A (p.Arg338Lys) c.593G>A (p.Arg198Lys) c.576G>A (p.Gln192=) c.478-1G>A (n.478-1G>A) c.2106+228275C>T (n.2106+228275C>T) c.581G>A (p.Arg194Lys) n.165-1G>A c.886-1G>A (n.886-1G>A) | gnomAD v4 |
| 3 | g.184372983T>A | CA355462207 | EIF2B5,THPO | c.1012A>T (p.Arg338Trp) c.592A>T (p.Arg198Trp) c.575A>T (p.Gln192Leu) c.478-2A>T (n.478-2A>T) c.2106+228276T>A (n.2106+228276T>A) c.580A>T (p.Arg194Trp) n.165-2A>T c.886-2A>T (n.886-2A>T) | |
| 3 | g.184372983T>C | CA355462208 | EIF2B5,THPO | c.1012A>G (p.Arg338Gly) c.592A>G (p.Arg198Gly) c.575A>G (p.Gln192Arg) c.478-2A>G (n.478-2A>G) c.2106+228276T>C (n.2106+228276T>C) c.580A>G (p.Arg194Gly) n.165-2A>G c.886-2A>G (n.886-2A>G) | dbSNP |
| 3 | g.184372983T>G | CA355462209 | EIF2B5,THPO | c.1012A>C (p.Arg338=) c.592A>C (p.Arg198=) c.575A>C (p.Gln192Pro) c.478-2A>C (n.478-2A>C) c.2106+228276T>G (n.2106+228276T>G) c.580A>C (p.Arg194=) n.165-2A>C c.886-2A>C (n.886-2A>C) | |
| 3 | g.184372983T= | CA1425997903 | EIF2B5,THPO | c.1012A= (p.Arg338=) c.592A= (p.Arg198=) c.575A= (p.Gln192=) c.478-2A= (n.478-2A=) c.2106+228276T= (n.2106+228276T=) c.580A= (p.Arg194=) n.165-2A= c.886-2A= (n.886-2A=) | |
| 3 | g.184372984G>A | CA437332079 | EIF2B5,THPO | c.1011C>T (p.Asn337=) c.591C>T (p.Asn197=) c.574C>T (p.Gln192Ter) c.478-3C>T (n.478-3C>T) c.2106+228277G>A (n.2106+228277G>A) c.579C>T (p.Asn193=) n.165-3C>T c.886-3C>T (n.886-3C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372984G>C | CA355462210 | EIF2B5,THPO | c.1011C>G (p.Asn337Lys) c.591C>G (p.Asn197Lys) c.574C>G (p.Gln192Glu) c.478-3C>G (n.478-3C>G) c.2106+228277G>C (n.2106+228277G>C) c.579C>G (p.Asn193Lys) n.165-3C>G c.886-3C>G (n.886-3C>G) | dbSNP |
| 3 | g.184372984G= | CA1425997904 | EIF2B5,THPO | c.1011C= (p.Asn337=) c.591C= (p.Asn197=) c.574C= (p.Gln192=) c.478-3C= (n.478-3C=) c.2106+228277G= (n.2106+228277G=) c.579C= (p.Asn193=) n.165-3C= c.886-3C= (n.886-3C=) | |
| 3 | g.184372984G>T | CA355462211 | EIF2B5,THPO | c.1011C>A (p.Asn337Lys) c.591C>A (p.Asn197Lys) c.574C>A (p.Gln192Lys) c.478-3C>A (n.478-3C>A) c.2106+228277G>T (n.2106+228277G>T) c.579C>A (p.Asn193Lys) n.165-3C>A c.886-3C>A (n.886-3C>A) | |
| 3 | g.184372985T>A | CA355462212 | EIF2B5,THPO | c.1010A>T (p.Asn337Ile) c.590A>T (p.Asn197Ile) c.573A>T (p.Lys191Asn) c.478-4A>T (n.478-4A>T) c.2106+228278T>A (n.2106+228278T>A) c.578A>T (p.Asn193Ile) n.165-4A>T c.886-4A>T (n.886-4A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.184372985T>C | CA355462214 | EIF2B5,THPO | c.1010A>G (p.Asn337Ser) c.590A>G (p.Asn197Ser) c.573A>G (p.Lys191=) c.478-4A>G (n.478-4A>G) c.2106+228278T>C (n.2106+228278T>C) c.578A>G (p.Asn193Ser) n.165-4A>G c.886-4A>G (n.886-4A>G) | |
| 3 | g.184372985T>G | CA355462213 | EIF2B5,THPO | c.1010A>C (p.Asn337Thr) c.590A>C (p.Asn197Thr) c.573A>C (p.Lys191Asn) c.478-4A>C (n.478-4A>C) c.2106+228278T>G (n.2106+228278T>G) c.578A>C (p.Asn193Thr) n.165-4A>C c.886-4A>C (n.886-4A>C) | |
| 3 | g.184372985T= | CA1425997905 | EIF2B5,THPO | c.1010A= (p.Asn337=) c.590A= (p.Asn197=) c.573A= (p.Lys191=) c.478-4A= (n.478-4A=) c.2106+228278T= (n.2106+228278T=) c.578A= (p.Asn193=) n.165-4A= c.886-4A= (n.886-4A=) | |
| 3 | g.184372986T>A | CA355462215 | EIF2B5,THPO | c.1009A>T (p.Asn337Tyr) c.589A>T (p.Asn197Tyr) c.572A>T (p.Lys191Ile) c.478-5A>T (n.478-5A>T) c.2106+228279T>A (n.2106+228279T>A) c.577A>T (p.Asn193Tyr) n.165-5A>T c.886-5A>T (n.886-5A>T) | |
| 3 | g.184372986T>C | CA2734911 | EIF2B5,THPO | c.1009A>G (p.Asn337Asp) c.589A>G (p.Asn197Asp) c.572A>G (p.Lys191Arg) c.478-5A>G (n.478-5A>G) c.2106+228279T>C (n.2106+228279T>C) c.577A>G (p.Asn193Asp) n.165-5A>G c.886-5A>G (n.886-5A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372986T>G | CA355462216 | EIF2B5,THPO | c.1009A>C (p.Asn337His) c.589A>C (p.Asn197His) c.572A>C (p.Lys191Thr) c.478-5A>C (n.478-5A>C) c.2106+228279T>G (n.2106+228279T>G) c.577A>C (p.Asn193His) n.165-5A>C c.886-5A>C (n.886-5A>C) | |
| 3 | g.184372986T= | CA1425997906 | EIF2B5,THPO | c.1009A= (p.Asn337=) c.589A= (p.Asn197=) c.572A= (p.Lys191=) c.478-5A= (n.478-5A=) c.2106+228279T= (n.2106+228279T=) c.577A= (p.Asn193=) n.165-5A= c.886-5A= (n.886-5A=) | |
| 3 | g.184372987T>A | CA437332080 | EIF2B5,THPO | c.1008A>T (p.Pro336=) c.588A>T (p.Pro196=) c.571A>T (p.Lys191Ter) c.478-6A>T (n.478-6A>T) c.2106+228280T>A (n.2106+228280T>A) c.576A>T (p.Pro192=) n.165-6A>T c.886-6A>T (n.886-6A>T) | |
| 3 | g.184372987T>C | CA437332081 | EIF2B5,THPO | c.1008A>G (p.Pro336=) c.588A>G (p.Pro196=) c.571A>G (p.Lys191Glu) c.478-6A>G (n.478-6A>G) c.2106+228280T>C (n.2106+228280T>C) c.576A>G (p.Pro192=) n.165-6A>G c.886-6A>G (n.886-6A>G) | gnomAD v4 |
| 3 | g.184372987T>G | CA437332082 | EIF2B5,THPO | c.1008A>C (p.Pro336=) c.588A>C (p.Pro196=) c.571A>C (p.Lys191Gln) c.478-6A>C (n.478-6A>C) c.2106+228280T>G (n.2106+228280T>G) c.576A>C (p.Pro192=) n.165-6A>C c.886-6A>C (n.886-6A>C) | |
| 3 | g.184372988G>A | CA355462217 | EIF2B5,THPO | c.1007C>T (p.Pro336Leu) c.587C>T (p.Pro196Leu) c.570C>T (p.Pro190=) c.478-7C>T (n.478-7C>T) c.2106+228281G>A (n.2106+228281G>A) c.575C>T (p.Pro192Leu) n.165-7C>T c.886-7C>T (n.886-7C>T) | |
| 3 | g.184372988G>C | CA355462218 | EIF2B5,THPO | c.1007C>G (p.Pro336Arg) c.587C>G (p.Pro196Arg) c.570C>G (p.Pro190=) c.478-7C>G (n.478-7C>G) c.2106+228281G>C (n.2106+228281G>C) c.575C>G (p.Pro192Arg) n.165-7C>G c.886-7C>G (n.886-7C>G) | |
| 3 | g.184372988G>T | CA355462219 | EIF2B5,THPO | c.1007C>A (p.Pro336Gln) c.587C>A (p.Pro196Gln) c.570C>A (p.Pro190=) c.478-7C>A (n.478-7C>A) c.2106+228281G>T (n.2106+228281G>T) c.575C>A (p.Pro192Gln) n.165-7C>A c.886-7C>A (n.886-7C>A) | gnomAD v4 |
| 3 | g.184372989G>A | CA355462220 | EIF2B5,THPO | c.1006C>T (p.Pro336Ser) c.586C>T (p.Pro196Ser) c.569C>T (p.Pro190Leu) c.478-8C>T (n.478-8C>T) c.2106+228282G>A (n.2106+228282G>A) c.574C>T (p.Pro192Ser) n.165-8C>T c.886-8C>T (n.886-8C>T) | |
| 3 | g.184372989G>C | CA355462221 | EIF2B5,THPO | c.1006C>G (p.Pro336Ala) c.586C>G (p.Pro196Ala) c.569C>G (p.Pro190Arg) c.478-8C>G (n.478-8C>G) c.2106+228282G>C (n.2106+228282G>C) c.574C>G (p.Pro192Ala) n.165-8C>G c.886-8C>G (n.886-8C>G) | |
| 3 | g.184372989G>T | CA355462222 | EIF2B5,THPO | c.1006C>A (p.Pro336Thr) c.586C>A (p.Pro196Thr) c.569C>A (p.Pro190His) c.478-8C>A (n.478-8C>A) c.2106+228282G>T (n.2106+228282G>T) c.574C>A (p.Pro192Thr) n.165-8C>A c.886-8C>A (n.886-8C>A) | |
| 3 | g.184372990G>A | CA437332083 | EIF2B5,THPO | c.1005C>T (p.Leu335=) c.585C>T (p.Leu195=) c.568C>T (p.Pro190Ser) c.478-9C>T (n.478-9C>T) c.2106+228283G>A (n.2106+228283G>A) c.573C>T (p.Leu191=) n.165-9C>T c.886-9C>T (n.886-9C>T) | |
| 3 | g.184372990G>C | CA2734912 | EIF2B5,THPO | c.1005C>G (p.Leu335=) c.585C>G (p.Leu195=) c.568C>G (p.Pro190Ala) c.478-9C>G (n.478-9C>G) c.2106+228283G>C (n.2106+228283G>C) c.573C>G (p.Leu191=) n.165-9C>G c.886-9C>G (n.886-9C>G) | dbSNP ExAC gnomAD v2 |
| 3 | g.184372990G= | CA1425997907 | EIF2B5,THPO | c.1005C= (p.Leu335=) c.585C= (p.Leu195=) c.568C= (p.Pro190=) c.478-9C= (n.478-9C=) c.2106+228283G= (n.2106+228283G=) c.573C= (p.Leu191=) n.165-9C= c.886-9C= (n.886-9C=) | |
| 3 | g.184372990G>T | CA437332084 | EIF2B5,THPO | c.1005C>A (p.Leu335=) c.585C>A (p.Leu195=) c.568C>A (p.Pro190Thr) c.478-9C>A (n.478-9C>A) c.2106+228283G>T (n.2106+228283G>T) c.573C>A (p.Leu191=) n.165-9C>A c.886-9C>A (n.886-9C>A) | |
| 3 | g.184372991A>C | CA355462223 | EIF2B5,THPO | c.1004T>G (p.Leu335Arg) c.584T>G (p.Leu195Arg) c.567T>G (p.Ala189=) c.478-10T>G (n.478-10T>G) c.2106+228284A>C (n.2106+228284A>C) c.572T>G (p.Leu191Arg) n.165-10T>G c.886-10T>G (n.886-10T>G) | |
| 3 | g.184372991A>G | CA355462224 | EIF2B5,THPO | c.1004T>C (p.Leu335Pro) c.584T>C (p.Leu195Pro) c.567T>C (p.Ala189=) c.478-10T>C (n.478-10T>C) c.2106+228284A>G (n.2106+228284A>G) c.572T>C (p.Leu191Pro) n.165-10T>C c.886-10T>C (n.886-10T>C) | COSMIC |
| 3 | g.184372991A>T | CA355462225 | EIF2B5,THPO | c.1004T>A (p.Leu335His) c.584T>A (p.Leu195His) c.567T>A (p.Ala189=) c.478-10T>A (n.478-10T>A) c.2106+228284A>T (n.2106+228284A>T) c.572T>A (p.Leu191His) n.165-10T>A c.886-10T>A (n.886-10T>A) | |
| 3 | g.184372992G>A | CA355462228 | EIF2B5,THPO | c.1003C>T (p.Leu335Phe) c.583C>T (p.Leu195Phe) c.566C>T (p.Ala189Val) c.478-11C>T (n.478-11C>T) c.2106+228285G>A (n.2106+228285G>A) c.571C>T (p.Leu191Phe) n.165-11C>T c.886-11C>T (n.886-11C>T) | COSMIC |
| 3 | g.184372992G>C | CA355462227 | EIF2B5,THPO | c.1003C>G (p.Leu335Val) c.583C>G (p.Leu195Val) c.566C>G (p.Ala189Gly) c.478-11C>G (n.478-11C>G) c.2106+228285G>C (n.2106+228285G>C) c.571C>G (p.Leu191Val) n.165-11C>G c.886-11C>G (n.886-11C>G) | |
| 3 | g.184372992G>T | CA355462226 | EIF2B5,THPO | c.1003C>A (p.Leu335Ile) c.583C>A (p.Leu195Ile) c.566C>A (p.Ala189Asp) c.478-11C>A (n.478-11C>A) c.2106+228285G>T (n.2106+228285G>T) c.571C>A (p.Leu191Ile) n.165-11C>A c.886-11C>A (n.886-11C>A) | |
| 3 | g.184372993C>A | CA355462229 | EIF2B5,THPO | c.1002G>T (p.Glu334Asp) c.582G>T (p.Glu194Asp) c.565G>T (p.Ala189Ser) c.478-12G>T (n.478-12G>T) c.2106+228286C>A (n.2106+228286C>A) c.570G>T (p.Glu190Asp) n.165-12G>T c.886-12G>T (n.886-12G>T) | |
| 3 | g.184372993C>G | CA355462230 | EIF2B5,THPO | c.1002G>C (p.Glu334Asp) c.582G>C (p.Glu194Asp) c.565G>C (p.Ala189Pro) c.478-12G>C (n.478-12G>C) c.2106+228286C>G (n.2106+228286C>G) c.570G>C (p.Glu190Asp) n.165-12G>C c.886-12G>C (n.886-12G>C) | |
| 3 | g.184372993C>T | CA437332085 | EIF2B5,THPO | c.1002G>A (p.Glu334=) c.582G>A (p.Glu194=) c.565G>A (p.Ala189Thr) c.478-12G>A (n.478-12G>A) c.2106+228286C>T (n.2106+228286C>T) c.570G>A (p.Glu190=) n.165-12G>A c.886-12G>A (n.886-12G>A) | gnomAD v4 |
| 3 | g.184372994T>A | CA355462231 | EIF2B5,THPO | c.1001A>T (p.Glu334Val) c.581A>T (p.Glu194Val) c.564A>T (p.Arg188=) c.478-13A>T (n.478-13A>T) c.2106+228287T>A (n.2106+228287T>A) c.569A>T (p.Glu190Val) n.165-13A>T c.886-13A>T (n.886-13A>T) | |
| 3 | g.184372994T>C | CA355462232 | EIF2B5,THPO | c.1001A>G (p.Glu334Gly) c.581A>G (p.Glu194Gly) c.564A>G (p.Arg188=) c.478-13A>G (n.478-13A>G) c.2106+228287T>C (n.2106+228287T>C) c.569A>G (p.Glu190Gly) n.165-13A>G c.886-13A>G (n.886-13A>G) | |
| 3 | g.184372994T>G | CA355462233 | EIF2B5,THPO | c.1001A>C (p.Glu334Ala) c.581A>C (p.Glu194Ala) c.564A>C (p.Arg188=) c.478-13A>C (n.478-13A>C) c.2106+228287T>G (n.2106+228287T>G) c.569A>C (p.Glu190Ala) n.165-13A>C c.886-13A>C (n.886-13A>C) | |
| 3 | g.184372995C>A | CA355462234 | EIF2B5,THPO | c.1000G>T (p.Glu334Ter) c.580G>T (p.Glu194Ter) c.563G>T (p.Arg188Leu) c.478-14G>T (n.478-14G>T) c.2106+228288C>A (n.2106+228288C>A) c.568G>T (p.Glu190Ter) n.165-14G>T c.886-14G>T (n.886-14G>T) | |
| 3 | g.184372995C= | CA1425997908 | EIF2B5,THPO | c.1000G= (p.Glu334=) c.580G= (p.Glu194=) c.563G= (p.Arg188=) c.478-14G= (n.478-14G=) c.2106+228288C= (n.2106+228288C=) c.568G= (p.Glu190=) n.165-14G= c.886-14G= (n.886-14G=) | |
| 3 | g.184372995C>G | CA355462235 | EIF2B5,THPO | c.1000G>C (p.Glu334Gln) c.580G>C (p.Glu194Gln) c.563G>C (p.Arg188Pro) c.478-14G>C (n.478-14G>C) c.2106+228288C>G (n.2106+228288C>G) c.568G>C (p.Glu190Gln) n.165-14G>C c.886-14G>C (n.886-14G>C) | |
| 3 | g.184372995C>T | CA355462236 | EIF2B5,THPO | c.1000G>A (p.Glu334Lys) c.580G>A (p.Glu194Lys) c.563G>A (p.Arg188Gln) c.478-14G>A (n.478-14G>A) c.2106+228288C>T (n.2106+228288C>T) c.568G>A (p.Glu190Lys) n.165-14G>A c.886-14G>A (n.886-14G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372996G>A | CA2734913 | EIF2B5,THPO | c.999C>T (p.Asn333=) c.579C>T (p.Asn193=) c.562C>T (p.Arg188Ter) c.478-15C>T (n.478-15C>T) c.2106+228289G>A (n.2106+228289G>A) c.567C>T (p.Asn189=) n.165-15C>T c.886-15C>T (n.886-15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372996G>C | CA355462237 | EIF2B5,THPO | c.999C>G (p.Asn333Lys) c.579C>G (p.Asn193Lys) c.562C>G (p.Arg188Gly) c.478-15C>G (n.478-15C>G) c.2106+228289G>C (n.2106+228289G>C) c.567C>G (p.Asn189Lys) n.165-15C>G c.886-15C>G (n.886-15C>G) | |
| 3 | g.184372996G= | CA1425997909 | EIF2B5,THPO | c.999C= (p.Asn333=) c.579C= (p.Asn193=) c.562C= (p.Arg188=) c.478-15C= (n.478-15C=) c.2106+228289G= (n.2106+228289G=) c.567C= (p.Asn189=) n.165-15C= c.886-15C= (n.886-15C=) | |
| 3 | g.184372996G>T | CA355462238 | EIF2B5,THPO | c.999C>A (p.Asn333Lys) c.579C>A (p.Asn193Lys) c.562C>A (p.Arg188=) c.478-15C>A (n.478-15C>A) c.2106+228289G>T (n.2106+228289G>T) c.567C>A (p.Asn189Lys) n.165-15C>A c.886-15C>A (n.886-15C>A) | |
| 3 | g.184372997T>A | CA355462240 | EIF2B5,THPO | c.998A>T (p.Asn333Ile) c.578A>T (p.Asn193Ile) c.561A>T (p.Glu187Asp) c.478-16A>T (n.478-16A>T) c.2106+228290T>A (n.2106+228290T>A) c.566A>T (p.Asn189Ile) n.165-16A>T c.886-16A>T (n.886-16A>T) | |
| 3 | g.184372997T>C | CA355462241 | EIF2B5,THPO | c.998A>G (p.Asn333Ser) c.578A>G (p.Asn193Ser) c.561A>G (p.Glu187=) c.478-16A>G (n.478-16A>G) c.2106+228290T>C (n.2106+228290T>C) c.566A>G (p.Asn189Ser) n.165-16A>G c.886-16A>G (n.886-16A>G) | |
| 3 | g.184372997T>G | CA355462239 | EIF2B5,THPO | c.998A>C (p.Asn333Thr) c.578A>C (p.Asn193Thr) c.561A>C (p.Glu187Asp) c.478-16A>C (n.478-16A>C) c.2106+228290T>G (n.2106+228290T>G) c.566A>C (p.Asn189Thr) n.165-16A>C c.886-16A>C (n.886-16A>C) | |
| 3 | g.184372998T>A | CA355462242 | EIF2B5,THPO | c.997A>T (p.Asn333Tyr) c.577A>T (p.Asn193Tyr) c.560A>T (p.Glu187Val) c.478-17A>T (n.478-17A>T) c.2106+228291T>A (n.2106+228291T>A) c.565A>T (p.Asn189Tyr) n.165-17A>T c.886-17A>T (n.886-17A>T) | |
| 3 | g.184372998T>C | CA355462243 | EIF2B5,THPO | c.997A>G (p.Asn333Asp) c.577A>G (p.Asn193Asp) c.560A>G (p.Glu187Gly) c.478-17A>G (n.478-17A>G) c.2106+228291T>C (n.2106+228291T>C) c.565A>G (p.Asn189Asp) n.165-17A>G c.886-17A>G (n.886-17A>G) | |
| 3 | g.184372998T>G | CA355462244 | EIF2B5,THPO | c.997A>C (p.Asn333His) c.577A>C (p.Asn193His) c.560A>C (p.Glu187Ala) c.478-17A>C (n.478-17A>C) c.2106+228291T>G (n.2106+228291T>G) c.565A>C (p.Asn189His) n.165-17A>C c.886-17A>C (n.886-17A>C) | |
| 3 | g.184372999C>A | CA437332086 | EIF2B5,THPO | c.996G>T (p.Leu332=) c.576G>T (p.Leu192=) c.559G>T (p.Glu187Ter) c.478-18G>T (n.478-18G>T) c.2106+228292C>A (n.2106+228292C>A) c.564G>T (p.Leu188=) n.165-18G>T c.886-18G>T (n.886-18G>T) | |
| 3 | g.184372999C>G | CA437332087 | EIF2B5,THPO | c.996G>C (p.Leu332=) c.576G>C (p.Leu192=) c.559G>C (p.Glu187Gln) c.478-18G>C (n.478-18G>C) c.2106+228292C>G (n.2106+228292C>G) c.564G>C (p.Leu188=) n.165-18G>C c.886-18G>C (n.886-18G>C) | COSMIC |
| 3 | g.184372999C>T | CA437332088 | EIF2B5,THPO | c.996G>A (p.Leu332=) c.576G>A (p.Leu192=) c.559G>A (p.Glu187Lys) c.478-18G>A (n.478-18G>A) c.2106+228292C>T (n.2106+228292C>T) c.564G>A (p.Leu188=) n.165-18G>A c.886-18G>A (n.886-18G>A) | |
| 3 | g.184373000A>C | CA355462245 | EIF2B5,THPO | c.995T>G (p.Leu332Arg) c.575T>G (p.Leu192Arg) c.558T>G (p.Thr186=) c.478-19T>G (n.478-19T>G) c.2106+228293A>C (n.2106+228293A>C) c.563T>G (p.Leu188Arg) n.165-19T>G c.886-19T>G (n.886-19T>G) | |
| 3 | g.184373000A>G | CA355462246 | EIF2B5,THPO | c.995T>C (p.Leu332Pro) c.575T>C (p.Leu192Pro) c.558T>C (p.Thr186=) c.478-19T>C (n.478-19T>C) c.2106+228293A>G (n.2106+228293A>G) c.563T>C (p.Leu188Pro) n.165-19T>C c.886-19T>C (n.886-19T>C) | gnomAD v4 |
| 3 | g.184373000A>T | CA355462247 | EIF2B5,THPO | c.995T>A (p.Leu332Gln) c.575T>A (p.Leu192Gln) c.558T>A (p.Thr186=) c.478-19T>A (n.478-19T>A) c.2106+228293A>T (n.2106+228293A>T) c.563T>A (p.Leu188Gln) n.165-19T>A c.886-19T>A (n.886-19T>A) | gnomAD v4 |
| 3 | g.184373001G>A | CA437332089 | EIF2B5,THPO | c.994C>T (p.Leu332=) c.574C>T (p.Leu192=) c.557C>T (p.Thr186Ile) c.478-20C>T (n.478-20C>T) c.2106+228294G>A (n.2106+228294G>A) c.562C>T (p.Leu188=) n.165-20C>T c.886-20C>T (n.886-20C>T) | |
| 3 | g.184373001G>C | CA355462249 | EIF2B5,THPO | c.994C>G (p.Leu332Val) c.574C>G (p.Leu192Val) c.557C>G (p.Thr186Ser) c.478-20C>G (n.478-20C>G) c.2106+228294G>C (n.2106+228294G>C) c.562C>G (p.Leu188Val) n.165-20C>G c.886-20C>G (n.886-20C>G) | |
| 3 | g.184373001G>T | CA355462248 | EIF2B5,THPO | c.994C>A (p.Leu332Met) c.574C>A (p.Leu192Met) c.557C>A (p.Thr186Asn) c.478-20C>A (n.478-20C>A) c.2106+228294G>T (n.2106+228294G>T) c.562C>A (p.Leu188Met) n.165-20C>A c.886-20C>A (n.886-20C>A) | gnomAD v4 |
| 3 | g.184373002T>A | CA437332090 | EIF2B5,THPO | c.993A>T (p.Thr331=) c.573A>T (p.Thr191=) c.556A>T (p.Thr186Ser) c.478-21A>T (n.478-21A>T) c.2106+228295T>A (n.2106+228295T>A) c.561A>T (p.Thr187=) n.165-21A>T c.886-21A>T (n.886-21A>T) | |
| 3 | g.184373002T>C | CA437332092 | EIF2B5,THPO | c.993A>G (p.Thr331=) c.573A>G (p.Thr191=) c.556A>G (p.Thr186Ala) c.478-21A>G (n.478-21A>G) c.2106+228295T>C (n.2106+228295T>C) c.561A>G (p.Thr187=) n.165-21A>G c.886-21A>G (n.886-21A>G) | gnomAD v4 |
| 3 | g.184373002T>G | CA437332091 | EIF2B5,THPO | c.993A>C (p.Thr331=) c.573A>C (p.Thr191=) c.556A>C (p.Thr186Pro) c.478-21A>C (n.478-21A>C) c.2106+228295T>G (n.2106+228295T>G) c.561A>C (p.Thr187=) n.165-21A>C c.886-21A>C (n.886-21A>C) | |
| 3 | g.184373003G>A | CA355462250 | EIF2B5,THPO | c.992C>T (p.Thr331Ile) c.572C>T (p.Thr191Ile) c.555C>T (p.His185=) c.478-22C>T (n.478-22C>T) c.2106+228296G>A (n.2106+228296G>A) c.560C>T (p.Thr187Ile) n.165-22C>T c.886-22C>T (n.886-22C>T) | |
| 3 | g.184373003G>C | CA355462251 | EIF2B5,THPO | c.992C>G (p.Thr331Arg) c.572C>G (p.Thr191Arg) c.555C>G (p.His185Gln) c.478-22C>G (n.478-22C>G) c.2106+228296G>C (n.2106+228296G>C) c.560C>G (p.Thr187Arg) n.165-22C>G c.886-22C>G (n.886-22C>G) | |
| 3 | g.184373003G>T | CA355462252 | EIF2B5,THPO | c.992C>A (p.Thr331Lys) c.572C>A (p.Thr191Lys) c.555C>A (p.His185Gln) c.478-22C>A (n.478-22C>A) c.2106+228296G>T (n.2106+228296G>T) c.560C>A (p.Thr187Lys) n.165-22C>A c.886-22C>A (n.886-22C>A) |