| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.184372798T>A | CA355461694 | EIF2B5,THPO | c.1197A>T (p.Gly399=) c.777A>T (p.Gly259=) c.760A>T (p.Thr254Ser) c.661A>T (p.Thr221Ser) c.2106+228091T>A (n.2106+228091T>A) c.765A>T (p.Gly255=) c.1069A>T (p.Thr357Ser) | |
| 3 | g.184372798T>C | CA355461695 | EIF2B5,THPO | c.1197A>G (p.Gly399=) c.777A>G (p.Gly259=) c.760A>G (p.Thr254Ala) c.661A>G (p.Thr221Ala) c.2106+228091T>C (n.2106+228091T>C) c.765A>G (p.Gly255=) c.1069A>G (p.Thr357Ala) | |
| 3 | g.184372798T>G | CA355461696 | EIF2B5,THPO | c.1197A>C (p.Gly399=) c.777A>C (p.Gly259=) c.760A>C (p.Thr254Pro) c.661A>C (p.Thr221Pro) c.2106+228091T>G (n.2106+228091T>G) c.765A>C (p.Gly255=) c.1069A>C (p.Thr357Pro) | |
| 3 | g.184372799C>A | CA355461699 | EIF2B5,THPO | c.1196G>T (p.Gly399Val) c.776G>T (p.Gly259Val) c.759G>T (p.Trp253Cys) c.660G>T (p.Trp220Cys) c.2106+228092C>A (n.2106+228092C>A) c.764G>T (p.Gly255Val) c.1068G>T (p.Trp356Cys) | |
| 3 | g.184372799C>G | CA355461698 | EIF2B5,THPO | c.1196G>C (p.Gly399Ala) c.776G>C (p.Gly259Ala) c.759G>C (p.Trp253Cys) c.660G>C (p.Trp220Cys) c.2106+228092C>G (n.2106+228092C>G) c.764G>C (p.Gly255Ala) c.1068G>C (p.Trp356Cys) | |
| 3 | g.184372799C>T | CA355461697 | EIF2B5,THPO | c.1196G>A (p.Gly399Glu) c.776G>A (p.Gly259Glu) c.759G>A (p.Trp253Ter) c.660G>A (p.Trp220Ter) c.2106+228092C>T (n.2106+228092C>T) c.764G>A (p.Gly255Glu) c.1068G>A (p.Trp356Ter) | COSMIC |
| 3 | g.184372800C>A | CA355461700 | EIF2B5,THPO | c.1195G>T (p.Gly399Ter) c.775G>T (p.Gly259Ter) c.758G>T (p.Trp253Leu) c.659G>T (p.Trp220Leu) c.2106+228093C>A (n.2106+228093C>A) c.763G>T (p.Gly255Ter) c.1067G>T (p.Trp356Leu) | |
| 3 | g.184372800C>G | CA355461701 | EIF2B5,THPO | c.1195G>C (p.Gly399Arg) c.775G>C (p.Gly259Arg) c.758G>C (p.Trp253Ser) c.659G>C (p.Trp220Ser) c.2106+228093C>G (n.2106+228093C>G) c.763G>C (p.Gly255Arg) c.1067G>C (p.Trp356Ser) | |
| 3 | g.184372800C>T | CA355461702 | EIF2B5,THPO | c.1195G>A (p.Gly399Arg) c.775G>A (p.Gly259Arg) c.758G>A (p.Trp253Ter) c.659G>A (p.Trp220Ter) c.2106+228093C>T (n.2106+228093C>T) c.763G>A (p.Gly255Arg) c.1067G>A (p.Trp356Ter) | |
| 3 | g.184372801A= | CA1425997823 | EIF2B5,THPO | c.1194T= (p.Arg398=) c.774T= (p.Arg258=) c.757T= (p.Trp253=) c.658T= (p.Trp220=) c.2106+228094A= (n.2106+228094A=) c.762T= (p.Arg254=) c.1066T= (p.Trp356=) | |
| 3 | g.184372801A>C | CA355461703 | EIF2B5,THPO | c.1194T>G (p.Arg398=) c.774T>G (p.Arg258=) c.757T>G (p.Trp253Gly) c.658T>G (p.Trp220Gly) c.2106+228094A>C (n.2106+228094A>C) c.762T>G (p.Arg254=) c.1066T>G (p.Trp356Gly) | |
| 3 | g.184372801A>G | CA355461704 | EIF2B5,THPO | c.1194T>C (p.Arg398=) c.774T>C (p.Arg258=) c.757T>C (p.Trp253Arg) c.658T>C (p.Trp220Arg) c.2106+228094A>G (n.2106+228094A>G) c.762T>C (p.Arg254=) c.1066T>C (p.Trp356Arg) | |
| 3 | g.184372801A>T | CA2734872 | EIF2B5,THPO | c.1194T>A (p.Arg398=) c.774T>A (p.Arg258=) c.757T>A (p.Trp253Arg) c.658T>A (p.Trp220Arg) c.2106+228094A>T (n.2106+228094A>T) c.762T>A (p.Arg254=) c.1066T>A (p.Trp356Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.184372802C>A | CA355461705 | EIF2B5,THPO | c.1193G>T (p.Arg398Leu) c.773G>T (p.Arg258Leu) c.756G>T (p.Ser252=) c.657G>T (p.Ser219=) c.2106+228095C>A (n.2106+228095C>A) c.761G>T (p.Arg254Leu) c.1065G>T (p.Ser355=) | |
| 3 | g.184372802C= | CA1425997824 | EIF2B5,THPO | c.1193G= (p.Arg398=) c.773G= (p.Arg258=) c.756G= (p.Ser252=) c.657G= (p.Ser219=) c.2106+228095C= (n.2106+228095C=) c.761G= (p.Arg254=) c.1065G= (p.Ser355=) | |
| 3 | g.184372802C>G | CA355461706 | EIF2B5,THPO | c.1193G>C (p.Arg398Pro) c.773G>C (p.Arg258Pro) c.756G>C (p.Ser252=) c.657G>C (p.Ser219=) c.2106+228095C>G (n.2106+228095C>G) c.761G>C (p.Arg254Pro) c.1065G>C (p.Ser355=) | |
| 3 | g.184372802C>T | CA2734873 | EIF2B5,THPO | c.1193G>A (p.Arg398His) c.773G>A (p.Arg258His) c.756G>A (p.Ser252=) c.657G>A (p.Ser219=) c.2106+228095C>T (n.2106+228095C>T) c.761G>A (p.Arg254His) c.1065G>A (p.Ser355=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372803G>A | CA2734874 | EIF2B5,THPO | c.1192C>T (p.Arg398Cys) c.772C>T (p.Arg258Cys) c.755C>T (p.Ser252Leu) c.656C>T (p.Ser219Leu) c.2106+228096G>A (n.2106+228096G>A) c.760C>T (p.Arg254Cys) c.1064C>T (p.Ser355Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.184372803G>C | CA355461707 | EIF2B5,THPO | c.1192C>G (p.Arg398Gly) c.772C>G (p.Arg258Gly) c.755C>G (p.Ser252Trp) c.656C>G (p.Ser219Trp) c.2106+228096G>C (n.2106+228096G>C) c.760C>G (p.Arg254Gly) c.1064C>G (p.Ser355Trp) | |
| 3 | g.184372803G= | CA1425997825 | EIF2B5,THPO | c.1192C= (p.Arg398=) c.772C= (p.Arg258=) c.755C= (p.Ser252=) c.656C= (p.Ser219=) c.2106+228096G= (n.2106+228096G=) c.760C= (p.Arg254=) c.1064C= (p.Ser355=) | |
| 3 | g.184372803G>T | CA355461708 | EIF2B5,THPO | c.1192C>A (p.Arg398Ser) c.772C>A (p.Arg258Ser) c.755C>A (p.Ser252Ter) c.656C>A (p.Ser219Ter) c.2106+228096G>T (n.2106+228096G>T) c.760C>A (p.Arg254Ser) c.1064C>A (p.Ser355Ter) | gnomAD v4 |
| 3 | g.184372804A>C | CA355461710 | EIF2B5,THPO | c.1191T>G (p.Thr397=) c.771T>G (p.Thr257=) c.754T>G (p.Ser252Ala) c.655T>G (p.Ser219Ala) c.2106+228097A>C (n.2106+228097A>C) c.759T>G (p.Thr253=) c.1063T>G (p.Ser355Ala) | |
| 3 | g.184372804A>G | CA355461711 | EIF2B5,THPO | c.1191T>C (p.Thr397=) c.771T>C (p.Thr257=) c.754T>C (p.Ser252Pro) c.655T>C (p.Ser219Pro) c.2106+228097A>G (n.2106+228097A>G) c.759T>C (p.Thr253=) c.1063T>C (p.Ser355Pro) | |
| 3 | g.184372804A>T | CA355461709 | EIF2B5,THPO | c.1191T>A (p.Thr397=) c.771T>A (p.Thr257=) c.754T>A (p.Ser252Thr) c.655T>A (p.Ser219Thr) c.2106+228097A>T (n.2106+228097A>T) c.759T>A (p.Thr253=) c.1063T>A (p.Ser355Thr) | |
| 3 | g.184372805G>A | CA355461712 | EIF2B5,THPO | c.1190C>T (p.Thr397Ile) c.770C>T (p.Thr257Ile) c.753C>T (p.Asn251=) c.654C>T (p.Asn218=) c.2106+228098G>A (n.2106+228098G>A) c.758C>T (p.Thr253Ile) c.1062C>T (p.Asn354=) | dbSNP gnomAD v4 |
| 3 | g.184372805G>C | CA355461713 | EIF2B5,THPO | c.1190C>G (p.Thr397Ser) c.770C>G (p.Thr257Ser) c.753C>G (p.Asn251Lys) c.654C>G (p.Asn218Lys) c.2106+228098G>C (n.2106+228098G>C) c.758C>G (p.Thr253Ser) c.1062C>G (p.Asn354Lys) | |
| 3 | g.184372805G>T | CA355461714 | EIF2B5,THPO | c.1190C>A (p.Thr397Asn) c.770C>A (p.Thr257Asn) c.753C>A (p.Asn251Lys) c.654C>A (p.Asn218Lys) c.2106+228098G>T (n.2106+228098G>T) c.758C>A (p.Thr253Asn) c.1062C>A (p.Asn354Lys) | |
| 3 | g.184372806T>A | CA355461715 | EIF2B5,THPO | c.1189A>T (p.Thr397Ser) c.769A>T (p.Thr257Ser) c.752A>T (p.Asn251Ile) c.653A>T (p.Asn218Ile) c.2106+228099T>A (n.2106+228099T>A) c.757A>T (p.Thr253Ser) c.1061A>T (p.Asn354Ile) | gnomAD v4 |
| 3 | g.184372806T>C | CA355461716 | EIF2B5,THPO | c.1189A>G (p.Thr397Ala) c.769A>G (p.Thr257Ala) c.752A>G (p.Asn251Ser) c.653A>G (p.Asn218Ser) c.2106+228099T>C (n.2106+228099T>C) c.757A>G (p.Thr253Ala) c.1061A>G (p.Asn354Ser) | COSMIC |
| 3 | g.184372806T>G | CA355461717 | EIF2B5,THPO | c.1189A>C (p.Thr397Pro) c.769A>C (p.Thr257Pro) c.752A>C (p.Asn251Thr) c.653A>C (p.Asn218Thr) c.2106+228099T>G (n.2106+228099T>G) c.757A>C (p.Thr253Pro) c.1061A>C (p.Asn354Thr) | |
| 3 | g.184372807T>A | CA355461718 | EIF2B5,THPO | c.1188A>T (p.Gly396=) c.768A>T (p.Gly256=) c.751A>T (p.Asn251Tyr) c.652A>T (p.Asn218Tyr) c.2106+228100T>A (n.2106+228100T>A) c.756A>T (p.Gly252=) c.1060A>T (p.Asn354Tyr) | dbSNP gnomAD v4 |
| 3 | g.184372807T>C | CA355461719 | EIF2B5,THPO | c.1188A>G (p.Gly396=) c.768A>G (p.Gly256=) c.751A>G (p.Asn251Asp) c.652A>G (p.Asn218Asp) c.2106+228100T>C (n.2106+228100T>C) c.756A>G (p.Gly252=) c.1060A>G (p.Asn354Asp) | |
| 3 | g.184372807T>G | CA355461720 | EIF2B5,THPO | c.1188A>C (p.Gly396=) c.768A>C (p.Gly256=) c.751A>C (p.Asn251His) c.652A>C (p.Asn218His) c.2106+228100T>G (n.2106+228100T>G) c.756A>C (p.Gly252=) c.1060A>C (p.Asn354His) | gnomAD v4 |
| 3 | g.184372808C>A | CA355461721 | EIF2B5,THPO | c.1187G>T (p.Gly396Val) c.767G>T (p.Gly256Val) c.750G>T (p.Trp250Cys) c.651G>T (p.Trp217Cys) c.2106+228101C>A (n.2106+228101C>A) c.755G>T (p.Gly252Val) c.1059G>T (p.Trp353Cys) | COSMIC |
| 3 | g.184372808C= | CA1425997826 | EIF2B5,THPO | c.1187G= (p.Gly396=) c.767G= (p.Gly256=) c.750G= (p.Trp250=) c.651G= (p.Trp217=) c.2106+228101C= (n.2106+228101C=) c.755G= (p.Gly252=) c.1059G= (p.Trp353=) | |
| 3 | g.184372808C>G | CA355461722 | EIF2B5,THPO | c.1187G>C (p.Gly396Ala) c.767G>C (p.Gly256Ala) c.750G>C (p.Trp250Cys) c.651G>C (p.Trp217Cys) c.2106+228101C>G (n.2106+228101C>G) c.755G>C (p.Gly252Ala) c.1059G>C (p.Trp353Cys) | dbSNP |
| 3 | g.184372808C>T | CA355461723 | EIF2B5,THPO | c.1187G>A (p.Gly396Glu) c.767G>A (p.Gly256Glu) c.750G>A (p.Trp250Ter) c.651G>A (p.Trp217Ter) c.2106+228101C>T (n.2106+228101C>T) c.755G>A (p.Gly252Glu) c.1059G>A (p.Trp353Ter) | COSMIC |
| 3 | g.184372809C>A | CA355461725 | EIF2B5,THPO | c.1186G>T (p.Gly396Ter) c.766G>T (p.Gly256Ter) c.749G>T (p.Trp250Leu) c.650G>T (p.Trp217Leu) c.2106+228102C>A (n.2106+228102C>A) c.754G>T (p.Gly252Ter) c.1058G>T (p.Trp353Leu) | |
| 3 | g.184372809C= | CA1425997827 | EIF2B5,THPO | c.1186G= (p.Gly396=) c.766G= (p.Gly256=) c.749G= (p.Trp250=) c.650G= (p.Trp217=) c.2106+228102C= (n.2106+228102C=) c.754G= (p.Gly252=) c.1058G= (p.Trp353=) | |
| 3 | g.184372809C>G | CA355461726 | EIF2B5,THPO | c.1186G>C (p.Gly396Arg) c.766G>C (p.Gly256Arg) c.749G>C (p.Trp250Ser) c.650G>C (p.Trp217Ser) c.2106+228102C>G (n.2106+228102C>G) c.754G>C (p.Gly252Arg) c.1058G>C (p.Trp353Ser) | |
| 3 | g.184372809C>T | CA355461724 | EIF2B5,THPO | c.1186G>A (p.Gly396Arg) c.766G>A (p.Gly256Arg) c.749G>A (p.Trp250Ter) c.650G>A (p.Trp217Ter) c.2106+228102C>T (n.2106+228102C>T) c.754G>A (p.Gly252Arg) c.1058G>A (p.Trp353Ter) | dbSNP |
| 3 | g.184372810A= | CA1425997828 | EIF2B5,THPO | c.1185T= (p.Asn395=) c.765T= (p.Asn255=) c.748T= (p.Trp250=) c.649T= (p.Trp217=) c.2106+228103A= (n.2106+228103A=) c.753T= (p.Asn251=) c.1057T= (p.Trp353=) | |
| 3 | g.184372810A>C | CA355461727 | EIF2B5,THPO | c.1185T>G (p.Asn395Lys) c.765T>G (p.Asn255Lys) c.748T>G (p.Trp250Gly) c.649T>G (p.Trp217Gly) c.2106+228103A>C (n.2106+228103A>C) c.753T>G (p.Asn251Lys) c.1057T>G (p.Trp353Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.184372810A>G | CA355461728 | EIF2B5,THPO | c.1185T>C (p.Asn395=) c.765T>C (p.Asn255=) c.748T>C (p.Trp250Arg) c.649T>C (p.Trp217Arg) c.2106+228103A>G (n.2106+228103A>G) c.753T>C (p.Asn251=) c.1057T>C (p.Trp353Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184372810A>T | CA355461729 | EIF2B5,THPO | c.1185T>A (p.Asn395Lys) c.765T>A (p.Asn255Lys) c.748T>A (p.Trp250Arg) c.649T>A (p.Trp217Arg) c.2106+228103A>T (n.2106+228103A>T) c.753T>A (p.Asn251Lys) c.1057T>A (p.Trp353Arg) | |
| 3 | g.184372811T>A | CA355461730 | EIF2B5,THPO | c.1184A>T (p.Asn395Ile) c.764A>T (p.Asn255Ile) c.747A>T (p.Glu249Asp) c.648A>T (p.Glu216Asp) c.2106+228104T>A (n.2106+228104T>A) c.752A>T (p.Asn251Ile) c.1056A>T (p.Glu352Asp) | |
| 3 | g.184372811T>C | CA355461731 | EIF2B5,THPO | c.1184A>G (p.Asn395Ser) c.764A>G (p.Asn255Ser) c.747A>G (p.Glu249=) c.648A>G (p.Glu216=) c.2106+228104T>C (n.2106+228104T>C) c.752A>G (p.Asn251Ser) c.1056A>G (p.Glu352=) | |
| 3 | g.184372811T>G | CA355461732 | EIF2B5,THPO | c.1184A>C (p.Asn395Thr) c.764A>C (p.Asn255Thr) c.747A>C (p.Glu249Asp) c.648A>C (p.Glu216Asp) c.2106+228104T>G (n.2106+228104T>G) c.752A>C (p.Asn251Thr) c.1056A>C (p.Glu352Asp) | |
| 3 | g.184372812T>A | CA355461735 | EIF2B5,THPO | c.1183A>T (p.Asn395Tyr) c.763A>T (p.Asn255Tyr) c.746A>T (p.Glu249Val) c.647A>T (p.Glu216Val) c.2106+228105T>A (n.2106+228105T>A) c.751A>T (p.Asn251Tyr) c.1055A>T (p.Glu352Val) | |
| 3 | g.184372812T>C | CA355461733 | EIF2B5,THPO | c.1183A>G (p.Asn395Asp) c.763A>G (p.Asn255Asp) c.746A>G (p.Glu249Gly) c.647A>G (p.Glu216Gly) c.2106+228105T>C (n.2106+228105T>C) c.751A>G (p.Asn251Asp) c.1055A>G (p.Glu352Gly) | |
| 3 | g.184372812T>G | CA355461734 | EIF2B5,THPO | c.1183A>C (p.Asn395His) c.763A>C (p.Asn255His) c.746A>C (p.Glu249Ala) c.647A>C (p.Glu216Ala) c.2106+228105T>G (n.2106+228105T>G) c.751A>C (p.Asn251His) c.1055A>C (p.Glu352Ala) | |
| 3 | g.184372813C>A | CA355461736 | EIF2B5,THPO | c.1182G>T (p.Leu394Phe) c.762G>T (p.Leu254Phe) c.745G>T (p.Glu249Ter) c.646G>T (p.Glu216Ter) c.2106+228106C>A (n.2106+228106C>A) c.750G>T (p.Leu250Phe) c.1054G>T (p.Glu352Ter) | |
| 3 | g.184372813C>G | CA355461737 | EIF2B5,THPO | c.1182G>C (p.Leu394Phe) c.762G>C (p.Leu254Phe) c.745G>C (p.Glu249Gln) c.646G>C (p.Glu216Gln) c.2106+228106C>G (n.2106+228106C>G) c.750G>C (p.Leu250Phe) c.1054G>C (p.Glu352Gln) | |
| 3 | g.184372813C>T | CA355461738 | EIF2B5,THPO | c.1182G>A (p.Leu394=) c.762G>A (p.Leu254=) c.745G>A (p.Glu249Lys) c.646G>A (p.Glu216Lys) c.2106+228106C>T (n.2106+228106C>T) c.750G>A (p.Leu250=) c.1054G>A (p.Glu352Lys) | |
| 3 | g.184372814A= | CA1425997829 | EIF2B5,THPO | c.1181T= (p.Leu394=) c.761T= (p.Leu254=) c.744T= (p.Leu248=) c.645T= (p.Leu215=) c.2106+228107A= (n.2106+228107A=) c.749T= (p.Leu250=) c.1053T= (p.Leu351=) | |
| 3 | g.184372814A>C | CA355461739 | EIF2B5,THPO | c.1181T>G (p.Leu394Trp) c.761T>G (p.Leu254Trp) c.744T>G (p.Leu248=) c.645T>G (p.Leu215=) c.2106+228107A>C (n.2106+228107A>C) c.749T>G (p.Leu250Trp) c.1053T>G (p.Leu351=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184372814A>G | CA355461740 | EIF2B5,THPO | c.1181T>C (p.Leu394Ser) c.761T>C (p.Leu254Ser) c.744T>C (p.Leu248=) c.645T>C (p.Leu215=) c.2106+228107A>G (n.2106+228107A>G) c.749T>C (p.Leu250Ser) c.1053T>C (p.Leu351=) | |
| 3 | g.184372814A>T | CA355461741 | EIF2B5,THPO | c.1181T>A (p.Leu394Ter) c.761T>A (p.Leu254Ter) c.744T>A (p.Leu248=) c.645T>A (p.Leu215=) c.2106+228107A>T (n.2106+228107A>T) c.749T>A (p.Leu250Ter) c.1053T>A (p.Leu351=) | |
| 3 | g.184372815A>C | CA355461744 | EIF2B5,THPO | c.1180T>G (p.Leu394Val) c.760T>G (p.Leu254Val) c.743T>G (p.Leu248Arg) c.644T>G (p.Leu215Arg) c.2106+228108A>C (n.2106+228108A>C) c.748T>G (p.Leu250Val) c.1052T>G (p.Leu351Arg) | |
| 3 | g.184372815A>G | CA355461743 | EIF2B5,THPO | c.1180T>C (p.Leu394=) c.760T>C (p.Leu254=) c.743T>C (p.Leu248Pro) c.644T>C (p.Leu215Pro) c.2106+228108A>G (n.2106+228108A>G) c.748T>C (p.Leu250=) c.1052T>C (p.Leu351Pro) | |
| 3 | g.184372815A>T | CA355461742 | EIF2B5,THPO | c.1180T>A (p.Leu394Met) c.760T>A (p.Leu254Met) c.743T>A (p.Leu248His) c.644T>A (p.Leu215His) c.2106+228108A>T (n.2106+228108A>T) c.748T>A (p.Leu250Met) c.1052T>A (p.Leu351His) | |
| 3 | g.184372816G>A | CA355461746 | EIF2B5,THPO | c.1179C>T (p.Leu393=) c.759C>T (p.Leu253=) c.742C>T (p.Leu248Phe) c.643C>T (p.Leu215Phe) c.2106+228109G>A (n.2106+228109G>A) c.747C>T (p.Leu249=) c.1051C>T (p.Leu351Phe) | |
| 3 | g.184372816G>C | CA355461745 | EIF2B5,THPO | c.1179C>G (p.Leu393=) c.759C>G (p.Leu253=) c.742C>G (p.Leu248Val) c.643C>G (p.Leu215Val) c.2106+228109G>C (n.2106+228109G>C) c.747C>G (p.Leu249=) c.1051C>G (p.Leu351Val) | |
| 3 | g.184372816G>T | CA355461747 | EIF2B5,THPO | c.1179C>A (p.Leu393=) c.759C>A (p.Leu253=) c.742C>A (p.Leu248Ile) c.643C>A (p.Leu215Ile) c.2106+228109G>T (n.2106+228109G>T) c.747C>A (p.Leu249=) c.1051C>A (p.Leu351Ile) | |
| 3 | g.184372817A= | CA1425997830 | EIF2B5,THPO | c.1178T= (p.Leu393=) c.758T= (p.Leu253=) c.741T= (p.Thr247=) c.642T= (p.Thr214=) c.2106+228110A= (n.2106+228110A=) c.746T= (p.Leu249=) c.1050T= (p.Thr350=) | |
| 3 | g.184372817A>C | CA355461748 | EIF2B5,THPO | c.1178T>G (p.Leu393Arg) c.758T>G (p.Leu253Arg) c.741T>G (p.Thr247=) c.642T>G (p.Thr214=) c.2106+228110A>C (n.2106+228110A>C) c.746T>G (p.Leu249Arg) c.1050T>G (p.Thr350=) | |
| 3 | g.184372817A>G | CA355461749 | EIF2B5,THPO | c.1178T>C (p.Leu393Pro) c.758T>C (p.Leu253Pro) c.741T>C (p.Thr247=) c.642T>C (p.Thr214=) c.2106+228110A>G (n.2106+228110A>G) c.746T>C (p.Leu249Pro) c.1050T>C (p.Thr350=) | |
| 3 | g.184372817A>T | CA88912269 | EIF2B5,THPO | c.1178T>A (p.Leu393His) c.758T>A (p.Leu253His) c.741T>A (p.Thr247=) c.642T>A (p.Thr214=) c.2106+228110A>T (n.2106+228110A>T) c.746T>A (p.Leu249His) c.1050T>A (p.Thr350=) | dbSNP |
| 3 | g.184372818G>A | CA355461750 | EIF2B5,THPO | c.1177C>T (p.Leu393Phe) c.757C>T (p.Leu253Phe) c.740C>T (p.Thr247Ile) c.641C>T (p.Thr214Ile) c.2106+228111G>A (n.2106+228111G>A) c.745C>T (p.Leu249Phe) c.1049C>T (p.Thr350Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184372818G>C | CA355461751 | EIF2B5,THPO | c.1177C>G (p.Leu393Val) c.757C>G (p.Leu253Val) c.740C>G (p.Thr247Ser) c.641C>G (p.Thr214Ser) c.2106+228111G>C (n.2106+228111G>C) c.745C>G (p.Leu249Val) c.1049C>G (p.Thr350Ser) | |
| 3 | g.184372818G= | CA1425997831 | EIF2B5,THPO | c.1177C= (p.Leu393=) c.757C= (p.Leu253=) c.740C= (p.Thr247=) c.641C= (p.Thr214=) c.2106+228111G= (n.2106+228111G=) c.745C= (p.Leu249=) c.1049C= (p.Thr350=) | |
| 3 | g.184372818G>T | CA355461752 | EIF2B5,THPO | c.1177C>A (p.Leu393Ile) c.757C>A (p.Leu253Ile) c.740C>A (p.Thr247Asn) c.641C>A (p.Thr214Asn) c.2106+228111G>T (n.2106+228111G>T) c.745C>A (p.Leu249Ile) c.1049C>A (p.Thr350Asn) | |
| 3 | g.184372819T>A | CA2734875 | EIF2B5,THPO | c.1176A>T (p.Glu392Asp) c.756A>T (p.Glu252Asp) c.739A>T (p.Thr247Ser) c.640A>T (p.Thr214Ser) c.2106+228112T>A (n.2106+228112T>A) c.744A>T (p.Glu248Asp) c.1048A>T (p.Thr350Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.184372819T>C | CA355461753 | EIF2B5,THPO | c.1176A>G (p.Glu392=) c.756A>G (p.Glu252=) c.739A>G (p.Thr247Ala) c.640A>G (p.Thr214Ala) c.2106+228112T>C (n.2106+228112T>C) c.744A>G (p.Glu248=) c.1048A>G (p.Thr350Ala) | |
| 3 | g.184372819T>G | CA355461754 | EIF2B5,THPO | c.1176A>C (p.Glu392Asp) c.756A>C (p.Glu252Asp) c.739A>C (p.Thr247Pro) c.640A>C (p.Thr214Pro) c.2106+228112T>G (n.2106+228112T>G) c.744A>C (p.Glu248Asp) c.1048A>C (p.Thr350Pro) | |
| 3 | g.184372819T= | CA1425997832 | EIF2B5,THPO | c.1176A= (p.Glu392=) c.756A= (p.Glu252=) c.739A= (p.Thr247=) c.640A= (p.Thr214=) c.2106+228112T= (n.2106+228112T=) c.744A= (p.Glu248=) c.1048A= (p.Thr350=) | |
| 3 | g.184372820T>A | CA355461755 | EIF2B5,THPO | c.1175A>T (p.Glu392Val) c.755A>T (p.Glu252Val) c.738A>T (p.Arg246=) c.639A>T (p.Arg213=) c.2106+228113T>A (n.2106+228113T>A) c.743A>T (p.Glu248Val) c.1047A>T (p.Arg349=) | |
| 3 | g.184372820T>C | CA355461756 | EIF2B5,THPO | c.1175A>G (p.Glu392Gly) c.755A>G (p.Glu252Gly) c.738A>G (p.Arg246=) c.639A>G (p.Arg213=) c.2106+228113T>C (n.2106+228113T>C) c.743A>G (p.Glu248Gly) c.1047A>G (p.Arg349=) | COSMIC |
| 3 | g.184372820T>G | CA355461757 | EIF2B5,THPO | c.1175A>C (p.Glu392Ala) c.755A>C (p.Glu252Ala) c.738A>C (p.Arg246=) c.639A>C (p.Arg213=) c.2106+228113T>G (n.2106+228113T>G) c.743A>C (p.Glu248Ala) c.1047A>C (p.Arg349=) | gnomAD v4 |
| 3 | g.184372821C>A | CA355461759 | EIF2B5,THPO | c.1174G>T (p.Glu392Ter) c.754G>T (p.Glu252Ter) c.737G>T (p.Arg246Leu) c.638G>T (p.Arg213Leu) c.2106+228114C>A (n.2106+228114C>A) c.742G>T (p.Glu248Ter) c.1046G>T (p.Arg349Leu) | |
| 3 | g.184372821C= | CA1425997833 | EIF2B5,THPO | c.1174G= (p.Glu392=) c.754G= (p.Glu252=) c.737G= (p.Arg246=) c.638G= (p.Arg213=) c.2106+228114C= (n.2106+228114C=) c.742G= (p.Glu248=) c.1046G= (p.Arg349=) | |
| 3 | g.184372821C>G | CA355461758 | EIF2B5,THPO | c.1174G>C (p.Glu392Gln) c.754G>C (p.Glu252Gln) c.737G>C (p.Arg246Pro) c.638G>C (p.Arg213Pro) c.2106+228114C>G (n.2106+228114C>G) c.742G>C (p.Glu248Gln) c.1046G>C (p.Arg349Pro) | |
| 3 | g.184372821C>T | CA2734876 | EIF2B5,THPO | c.1174G>A (p.Glu392Lys) c.754G>A (p.Glu252Lys) c.737G>A (p.Arg246Gln) c.638G>A (p.Arg213Gln) c.2106+228114C>T (n.2106+228114C>T) c.742G>A (p.Glu248Lys) c.1046G>A (p.Arg349Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.184372822G>A | CA2734877 | EIF2B5,THPO | c.1173C>T (p.His391=) c.753C>T (p.His251=) c.736C>T (p.Arg246Ter) c.637C>T (p.Arg213Ter) c.2106+228115G>A (n.2106+228115G>A) c.741C>T (p.His247=) c.1045C>T (p.Arg349Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372822G>C | CA2734878 | EIF2B5,THPO | c.1173C>G (p.His391Gln) c.753C>G (p.His251Gln) c.736C>G (p.Arg246Gly) c.637C>G (p.Arg213Gly) c.2106+228115G>C (n.2106+228115G>C) c.741C>G (p.His247Gln) c.1045C>G (p.Arg349Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372822G= | CA1425997834 | EIF2B5,THPO | c.1173C= (p.His391=) c.753C= (p.His251=) c.736C= (p.Arg246=) c.637C= (p.Arg213=) c.2106+228115G= (n.2106+228115G=) c.741C= (p.His247=) c.1045C= (p.Arg349=) | |
| 3 | g.184372822G>T | CA2734879 | EIF2B5,THPO | c.1173C>A (p.His391Gln) c.753C>A (p.His251Gln) c.736C>A (p.Arg246=) c.637C>A (p.Arg213=) c.2106+228115G>T (n.2106+228115G>T) c.741C>A (p.His247Gln) c.1045C>A (p.Arg349=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372823T>A | CA355461760 | EIF2B5,THPO | c.1172A>T (p.His391Leu) c.752A>T (p.His251Leu) c.735A>T (p.Thr245=) c.636A>T (p.Thr212=) c.2106+228116T>A (n.2106+228116T>A) c.740A>T (p.His247Leu) c.1044A>T (p.Thr348=) | |
| 3 | g.184372823T>C | CA355461761 | EIF2B5,THPO | c.1172A>G (p.His391Arg) c.752A>G (p.His251Arg) c.735A>G (p.Thr245=) c.636A>G (p.Thr212=) c.2106+228116T>C (n.2106+228116T>C) c.740A>G (p.His247Arg) c.1044A>G (p.Thr348=) | |
| 3 | g.184372823T>G | CA355461762 | EIF2B5,THPO | c.1172A>C (p.His391Pro) c.752A>C (p.His251Pro) c.735A>C (p.Thr245=) c.636A>C (p.Thr212=) c.2106+228116T>G (n.2106+228116T>G) c.740A>C (p.His247Pro) c.1044A>C (p.Thr348=) | |
| 3 | g.184372824G>A | CA355461763 | EIF2B5,THPO | c.1171C>T (p.His391Tyr) c.751C>T (p.His251Tyr) c.734C>T (p.Thr245Ile) c.635C>T (p.Thr212Ile) c.2106+228117G>A (n.2106+228117G>A) c.739C>T (p.His247Tyr) c.1043C>T (p.Thr348Ile) | |
| 3 | g.184372824G>C | CA355461764 | EIF2B5,THPO | c.1171C>G (p.His391Asp) c.751C>G (p.His251Asp) c.734C>G (p.Thr245Arg) c.635C>G (p.Thr212Arg) c.2106+228117G>C (n.2106+228117G>C) c.739C>G (p.His247Asp) c.1043C>G (p.Thr348Arg) | |
| 3 | g.184372824G>T | CA355461765 | EIF2B5,THPO | c.1171C>A (p.His391Asn) c.751C>A (p.His251Asn) c.734C>A (p.Thr245Lys) c.635C>A (p.Thr212Lys) c.2106+228117G>T (n.2106+228117G>T) c.739C>A (p.His247Asn) c.1043C>A (p.Thr348Lys) | |
| 3 | g.184372825T>A | CA355461766 | EIF2B5,THPO | c.1170A>T (p.Ile390=) c.750A>T (p.Ile250=) c.733A>T (p.Thr245Ser) c.634A>T (p.Thr212Ser) c.2106+228118T>A (n.2106+228118T>A) c.738A>T (p.Ile246=) c.1042A>T (p.Thr348Ser) | |
| 3 | g.184372825T>C | CA355461767 | EIF2B5,THPO | c.1170A>G (p.Ile390Met) c.750A>G (p.Ile250Met) c.733A>G (p.Thr245Ala) c.634A>G (p.Thr212Ala) c.2106+228118T>C (n.2106+228118T>C) c.738A>G (p.Ile246Met) c.1042A>G (p.Thr348Ala) | |
| 3 | g.184372825T>G | CA355461768 | EIF2B5,THPO | c.1170A>C (p.Ile390=) c.750A>C (p.Ile250=) c.733A>C (p.Thr245Pro) c.634A>C (p.Thr212Pro) c.2106+228118T>G (n.2106+228118T>G) c.738A>C (p.Ile246=) c.1042A>C (p.Thr348Pro) | |
| 3 | g.184372826A>C | CA355461771 | EIF2B5,THPO | c.1169T>G (p.Ile390Arg) c.749T>G (p.Ile250Arg) c.732T>G (p.Asp244Glu) c.633T>G (p.Asp211Glu) c.2106+228119A>C (n.2106+228119A>C) c.737T>G (p.Ile246Arg) c.1041T>G (p.Asp347Glu) | |
| 3 | g.184372826A>G | CA355461770 | EIF2B5,THPO | c.1169T>C (p.Ile390Thr) c.749T>C (p.Ile250Thr) c.732T>C (p.Asp244=) c.633T>C (p.Asp211=) c.2106+228119A>G (n.2106+228119A>G) c.737T>C (p.Ile246Thr) c.1041T>C (p.Asp347=) | |
| 3 | g.184372826A>T | CA355461769 | EIF2B5,THPO | c.1169T>A (p.Ile390Lys) c.749T>A (p.Ile250Lys) c.732T>A (p.Asp244Glu) c.633T>A (p.Asp211Glu) c.2106+228119A>T (n.2106+228119A>T) c.737T>A (p.Ile246Lys) c.1041T>A (p.Asp347Glu) | |
| 3 | g.184372827T>A | CA355461774 | EIF2B5,THPO | c.1168A>T (p.Ile390Leu) c.748A>T (p.Ile250Leu) c.731A>T (p.Asp244Val) c.632A>T (p.Asp211Val) c.2106+228120T>A (n.2106+228120T>A) c.736A>T (p.Ile246Leu) c.1040A>T (p.Asp347Val) | |
| 3 | g.184372827T>C | CA355461772 | EIF2B5,THPO | c.1168A>G (p.Ile390Val) c.748A>G (p.Ile250Val) c.731A>G (p.Asp244Gly) c.632A>G (p.Asp211Gly) c.2106+228120T>C (n.2106+228120T>C) c.736A>G (p.Ile246Val) c.1040A>G (p.Asp347Gly) | |
| 3 | g.184372827T>G | CA355461773 | EIF2B5,THPO | c.1168A>C (p.Ile390Leu) c.748A>C (p.Ile250Leu) c.731A>C (p.Asp244Ala) c.632A>C (p.Asp211Ala) c.2106+228120T>G (n.2106+228120T>G) c.736A>C (p.Ile246Leu) c.1040A>C (p.Asp347Ala) | |
| 3 | g.184372828C>A | CA88912299 | EIF2B5,THPO | c.1167G>T (p.Arg389Ser) c.747G>T (p.Arg249Ser) c.730G>T (p.Asp244Tyr) c.631G>T (p.Asp211Tyr) c.2106+228121C>A (n.2106+228121C>A) c.735G>T (p.Arg245Ser) c.1039G>T (p.Asp347Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372828C= | CA1425997835 | EIF2B5,THPO | c.1167G= (p.Arg389=) c.747G= (p.Arg249=) c.730G= (p.Asp244=) c.631G= (p.Asp211=) c.2106+228121C= (n.2106+228121C=) c.735G= (p.Arg245=) c.1039G= (p.Asp347=) | |
| 3 | g.184372828C>G | CA355461775 | EIF2B5,THPO | c.1167G>C (p.Arg389Ser) c.747G>C (p.Arg249Ser) c.730G>C (p.Asp244His) c.631G>C (p.Asp211His) c.2106+228121C>G (n.2106+228121C>G) c.735G>C (p.Arg245Ser) c.1039G>C (p.Asp347His) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184372828C>T | CA355461776 | EIF2B5,THPO | c.1167G>A (p.Arg389=) c.747G>A (p.Arg249=) c.730G>A (p.Asp244Asn) c.631G>A (p.Asp211Asn) c.2106+228121C>T (n.2106+228121C>T) c.735G>A (p.Arg245=) c.1039G>A (p.Asp347Asn) | |
| 3 | g.184372829C>A | CA355461779 | EIF2B5,THPO | c.1166G>T (p.Arg389Met) c.746G>T (p.Arg249Met) c.729G>T (p.Gln243His) c.630G>T (p.Gln210His) c.2106+228122C>A (n.2106+228122C>A) c.734G>T (p.Arg245Met) c.1038G>T (p.Gln346His) | |
| 3 | g.184372829C>G | CA355461778 | EIF2B5,THPO | c.1166G>C (p.Arg389Thr) c.746G>C (p.Arg249Thr) c.729G>C (p.Gln243His) c.630G>C (p.Gln210His) c.2106+228122C>G (n.2106+228122C>G) c.734G>C (p.Arg245Thr) c.1038G>C (p.Gln346His) | |
| 3 | g.184372829C>T | CA355461777 | EIF2B5,THPO | c.1166G>A (p.Arg389Lys) c.746G>A (p.Arg249Lys) c.729G>A (p.Gln243=) c.630G>A (p.Gln210=) c.2106+228122C>T (n.2106+228122C>T) c.734G>A (p.Arg245Lys) c.1038G>A (p.Gln346=) | |
| 3 | g.184372830T>A | CA355461780 | EIF2B5,THPO | c.1165A>T (p.Arg389Trp) c.745A>T (p.Arg249Trp) c.728A>T (p.Gln243Leu) c.629A>T (p.Gln210Leu) c.2106+228123T>A (n.2106+228123T>A) c.733A>T (p.Arg245Trp) c.1037A>T (p.Gln346Leu) | |
| 3 | g.184372830T>C | CA88912306 | EIF2B5,THPO | c.1165A>G (p.Arg389Gly) c.745A>G (p.Arg249Gly) c.728A>G (p.Gln243Arg) c.629A>G (p.Gln210Arg) c.2106+228123T>C (n.2106+228123T>C) c.733A>G (p.Arg245Gly) c.1037A>G (p.Gln346Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184372830T>G | CA355461781 | EIF2B5,THPO | c.1165A>C (p.Arg389=) c.745A>C (p.Arg249=) c.728A>C (p.Gln243Pro) c.629A>C (p.Gln210Pro) c.2106+228123T>G (n.2106+228123T>G) c.733A>C (p.Arg245=) c.1037A>C (p.Gln346Pro) | |
| 3 | g.184372830T= | CA1425997836 | EIF2B5,THPO | c.1165A= (p.Arg389=) c.745A= (p.Arg249=) c.728A= (p.Gln243=) c.629A= (p.Gln210=) c.2106+228123T= (n.2106+228123T=) c.733A= (p.Arg245=) c.1037A= (p.Gln346=) | |
| 3 | g.184372831G>A | CA355461782 | EIF2B5,THPO | c.1164C>T (p.Asn388=) c.744C>T (p.Asn248=) c.727C>T (p.Gln243Ter) c.628C>T (p.Gln210Ter) c.2106+228124G>A (n.2106+228124G>A) c.732C>T (p.Asn244=) c.1036C>T (p.Gln346Ter) | gnomAD v4 |
| 3 | g.184372831G>C | CA355461783 | EIF2B5,THPO | c.1164C>G (p.Asn388Lys) c.744C>G (p.Asn248Lys) c.727C>G (p.Gln243Glu) c.628C>G (p.Gln210Glu) c.2106+228124G>C (n.2106+228124G>C) c.732C>G (p.Asn244Lys) c.1036C>G (p.Gln346Glu) | |
| 3 | g.184372831G= | CA1425997837 | EIF2B5,THPO | c.1164C= (p.Asn388=) c.744C= (p.Asn248=) c.727C= (p.Gln243=) c.628C= (p.Gln210=) c.2106+228124G= (n.2106+228124G=) c.732C= (p.Asn244=) c.1036C= (p.Gln346=) | |
| 3 | g.184372831G>T | CA355461784 | EIF2B5,THPO | c.1164C>A (p.Asn388Lys) c.744C>A (p.Asn248Lys) c.727C>A (p.Gln243Lys) c.628C>A (p.Gln210Lys) c.2106+228124G>T (n.2106+228124G>T) c.732C>A (p.Asn244Lys) c.1036C>A (p.Gln346Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184372832T>A | CA355461785 | EIF2B5,THPO | c.1163A>T (p.Asn388Ile) c.743A>T (p.Asn248Ile) c.726A>T (p.Glu242Asp) c.627A>T (p.Glu209Asp) c.2106+228125T>A (n.2106+228125T>A) c.731A>T (p.Asn244Ile) c.1035A>T (p.Glu345Asp) | |
| 3 | g.184372832T>C | CA355461787 | EIF2B5,THPO | c.1163A>G (p.Asn388Ser) c.743A>G (p.Asn248Ser) c.726A>G (p.Glu242=) c.627A>G (p.Glu209=) c.2106+228125T>C (n.2106+228125T>C) c.731A>G (p.Asn244Ser) c.1035A>G (p.Glu345=) | |
| 3 | g.184372832T>G | CA355461786 | EIF2B5,THPO | c.1163A>C (p.Asn388Thr) c.743A>C (p.Asn248Thr) c.726A>C (p.Glu242Asp) c.627A>C (p.Glu209Asp) c.2106+228125T>G (n.2106+228125T>G) c.731A>C (p.Asn244Thr) c.1035A>C (p.Glu345Asp) | |
| 3 | g.184372833T>A | CA355461788 | EIF2B5,THPO | c.1162A>T (p.Asn388Tyr) c.742A>T (p.Asn248Tyr) c.725A>T (p.Glu242Val) c.626A>T (p.Glu209Val) c.2106+228126T>A (n.2106+228126T>A) c.730A>T (p.Asn244Tyr) c.1034A>T (p.Glu345Val) | |
| 3 | g.184372833T>C | CA355461789 | EIF2B5,THPO | c.1162A>G (p.Asn388Asp) c.742A>G (p.Asn248Asp) c.725A>G (p.Glu242Gly) c.626A>G (p.Glu209Gly) c.2106+228126T>C (n.2106+228126T>C) c.730A>G (p.Asn244Asp) c.1034A>G (p.Glu345Gly) | |
| 3 | g.184372833T>G | CA355461790 | EIF2B5,THPO | c.1162A>C (p.Asn388His) c.742A>C (p.Asn248His) c.725A>C (p.Glu242Ala) c.626A>C (p.Glu209Ala) c.2106+228126T>G (n.2106+228126T>G) c.730A>C (p.Asn244His) c.1034A>C (p.Glu345Ala) | |
| 3 | g.184372834C>A | CA355461791 | EIF2B5,THPO | c.1161G>T (p.Leu387=) c.741G>T (p.Leu247=) c.724G>T (p.Glu242Ter) c.625G>T (p.Glu209Ter) c.2106+228127C>A (n.2106+228127C>A) c.729G>T (p.Leu243=) c.1033G>T (p.Glu345Ter) | |
| 3 | g.184372834C>G | CA355461792 | EIF2B5,THPO | c.1161G>C (p.Leu387=) c.741G>C (p.Leu247=) c.724G>C (p.Glu242Gln) c.625G>C (p.Glu209Gln) c.2106+228127C>G (n.2106+228127C>G) c.729G>C (p.Leu243=) c.1033G>C (p.Glu345Gln) | |
| 3 | g.184372834C>T | CA355461793 | EIF2B5,THPO | c.1161G>A (p.Leu387=) c.741G>A (p.Leu247=) c.724G>A (p.Glu242Lys) c.625G>A (p.Glu209Lys) c.2106+228127C>T (n.2106+228127C>T) c.729G>A (p.Leu243=) c.1033G>A (p.Glu345Lys) | gnomAD v4 |
| 3 | g.184372835A= | CA1425997838 | EIF2B5,THPO | c.1160T= (p.Leu387=) c.740T= (p.Leu247=) c.723T= (p.Pro241=) c.624T= (p.Pro208=) c.2106+228128A= (n.2106+228128A=) c.728T= (p.Leu243=) c.1032T= (p.Pro344=) | |
| 3 | g.184372835A>C | CA355461794 | EIF2B5,THPO | c.1160T>G (p.Leu387Arg) c.740T>G (p.Leu247Arg) c.723T>G (p.Pro241=) c.624T>G (p.Pro208=) c.2106+228128A>C (n.2106+228128A>C) c.728T>G (p.Leu243Arg) c.1032T>G (p.Pro344=) | |
| 3 | g.184372835A>G | CA2734880 | EIF2B5,THPO | c.1160T>C (p.Leu387Pro) c.740T>C (p.Leu247Pro) c.723T>C (p.Pro241=) c.624T>C (p.Pro208=) c.2106+228128A>G (n.2106+228128A>G) c.728T>C (p.Leu243Pro) c.1032T>C (p.Pro344=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372835A>T | CA355461795 | EIF2B5,THPO | c.1160T>A (p.Leu387Gln) c.740T>A (p.Leu247Gln) c.723T>A (p.Pro241=) c.624T>A (p.Pro208=) c.2106+228128A>T (n.2106+228128A>T) c.728T>A (p.Leu243Gln) c.1032T>A (p.Pro344=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.184372836G>A | CA355461796 | EIF2B5,THPO | c.1159C>T (p.Leu387=) c.739C>T (p.Leu247=) c.722C>T (p.Pro241Leu) c.623C>T (p.Pro208Leu) c.2106+228129G>A (n.2106+228129G>A) c.727C>T (p.Leu243=) c.1031C>T (p.Pro344Leu) | |
| 3 | g.184372836G>C | CA355461797 | EIF2B5,THPO | c.1159C>G (p.Leu387Val) c.739C>G (p.Leu247Val) c.722C>G (p.Pro241Arg) c.623C>G (p.Pro208Arg) c.2106+228129G>C (n.2106+228129G>C) c.727C>G (p.Leu243Val) c.1031C>G (p.Pro344Arg) | |
| 3 | g.184372836G>T | CA355461798 | EIF2B5,THPO | c.1159C>A (p.Leu387Met) c.739C>A (p.Leu247Met) c.722C>A (p.Pro241His) c.623C>A (p.Pro208His) c.2106+228129G>T (n.2106+228129G>T) c.727C>A (p.Leu243Met) c.1031C>A (p.Pro344His) | |
| 3 | g.184372837G>A | CA355461800 | EIF2B5,THPO | c.1158C>T (p.Tyr386=) c.738C>T (p.Tyr246=) c.721C>T (p.Pro241Ser) c.622C>T (p.Pro208Ser) c.2106+228130G>A (n.2106+228130G>A) c.726C>T (p.Tyr242=) c.1030C>T (p.Pro344Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.184372837G>C | CA355461801 | EIF2B5,THPO | c.1158C>G (p.Tyr386Ter) c.738C>G (p.Tyr246Ter) c.721C>G (p.Pro241Ala) c.622C>G (p.Pro208Ala) c.2106+228130G>C (n.2106+228130G>C) c.726C>G (p.Tyr242Ter) c.1030C>G (p.Pro344Ala) | |
| 3 | g.184372837G= | CA1425997839 | EIF2B5,THPO | c.1158C= (p.Tyr386=) c.738C= (p.Tyr246=) c.721C= (p.Pro241=) c.622C= (p.Pro208=) c.2106+228130G= (n.2106+228130G=) c.726C= (p.Tyr242=) c.1030C= (p.Pro344=) | |
| 3 | g.184372837G>T | CA355461799 | EIF2B5,THPO | c.1158C>A (p.Tyr386Ter) c.738C>A (p.Tyr246Ter) c.721C>A (p.Pro241Thr) c.622C>A (p.Pro208Thr) c.2106+228130G>T (n.2106+228130G>T) c.726C>A (p.Tyr242Ter) c.1030C>A (p.Pro344Thr) | |
| 3 | g.184372838T>A | CA355461802 | EIF2B5,THPO | c.1157A>T (p.Tyr386Phe) c.737A>T (p.Tyr246Phe) c.720A>T (p.Ile240=) c.621A>T (p.Ile207=) c.2106+228131T>A (n.2106+228131T>A) c.725A>T (p.Tyr242Phe) c.1029A>T (p.Ile343=) | |
| 3 | g.184372838T>C | CA355461804 | EIF2B5,THPO | c.1157A>G (p.Tyr386Cys) c.737A>G (p.Tyr246Cys) c.720A>G (p.Ile240Met) c.621A>G (p.Ile207Met) c.2106+228131T>C (n.2106+228131T>C) c.725A>G (p.Tyr242Cys) c.1029A>G (p.Ile343Met) | |
| 3 | g.184372838T>G | CA355461803 | EIF2B5,THPO | c.1157A>C (p.Tyr386Ser) c.737A>C (p.Tyr246Ser) c.720A>C (p.Ile240=) c.621A>C (p.Ile207=) c.2106+228131T>G (n.2106+228131T>G) c.725A>C (p.Tyr242Ser) c.1029A>C (p.Ile343=) | |
| 3 | g.184372839A>C | CA355461805 | EIF2B5,THPO | c.1156T>G (p.Tyr386Asp) c.736T>G (p.Tyr246Asp) c.719T>G (p.Ile240Arg) c.620T>G (p.Ile207Arg) c.2106+228132A>C (n.2106+228132A>C) c.724T>G (p.Tyr242Asp) c.1028T>G (p.Ile343Arg) | |
| 3 | g.184372839A>G | CA355461806 | EIF2B5,THPO | c.1156T>C (p.Tyr386His) c.736T>C (p.Tyr246His) c.719T>C (p.Ile240Thr) c.620T>C (p.Ile207Thr) c.2106+228132A>G (n.2106+228132A>G) c.724T>C (p.Tyr242His) c.1028T>C (p.Ile343Thr) | |
| 3 | g.184372839A>T | CA355461807 | EIF2B5,THPO | c.1156T>A (p.Tyr386Asn) c.736T>A (p.Tyr246Asn) c.719T>A (p.Ile240Lys) c.620T>A (p.Ile207Lys) c.2106+228132A>T (n.2106+228132A>T) c.724T>A (p.Tyr242Asn) c.1028T>A (p.Ile343Lys) | |
| 3 | g.184372840T>A | CA355461808 | EIF2B5,THPO | c.1155A>T (p.Gly385=) c.735A>T (p.Gly245=) c.718A>T (p.Ile240Leu) c.619A>T (p.Ile207Leu) c.2106+228133T>A (n.2106+228133T>A) c.723A>T (p.Gly241=) c.1027A>T (p.Ile343Leu) | |
| 3 | g.184372840T>C | CA355461809 | EIF2B5,THPO | c.1155A>G (p.Gly385=) c.735A>G (p.Gly245=) c.718A>G (p.Ile240Val) c.619A>G (p.Ile207Val) c.2106+228133T>C (n.2106+228133T>C) c.723A>G (p.Gly241=) c.1027A>G (p.Ile343Val) | |
| 3 | g.184372840T>G | CA355461810 | EIF2B5,THPO | c.1155A>C (p.Gly385=) c.735A>C (p.Gly245=) c.718A>C (p.Ile240Leu) c.619A>C (p.Ile207Leu) c.2106+228133T>G (n.2106+228133T>G) c.723A>C (p.Gly241=) c.1027A>C (p.Ile343Leu) | |
| 3 | g.184372841C>A | CA355461811 | EIF2B5,THPO | c.1154G>T (p.Gly385Val) c.734G>T (p.Gly245Val) c.717G>T (p.Arg239=) c.618G>T (p.Arg206=) c.2106+228134C>A (n.2106+228134C>A) c.722G>T (p.Gly241Val) c.1026G>T (p.Arg342=) | |
| 3 | g.184372841C>G | CA355461812 | EIF2B5,THPO | c.1154G>C (p.Gly385Ala) c.734G>C (p.Gly245Ala) c.717G>C (p.Arg239=) c.618G>C (p.Arg206=) c.2106+228134C>G (n.2106+228134C>G) c.722G>C (p.Gly241Ala) c.1026G>C (p.Arg342=) | |
| 3 | g.184372841C>T | CA355461813 | EIF2B5,THPO | c.1154G>A (p.Gly385Glu) c.734G>A (p.Gly245Glu) c.717G>A (p.Arg239=) c.618G>A (p.Arg206=) c.2106+228134C>T (n.2106+228134C>T) c.722G>A (p.Gly241Glu) c.1026G>A (p.Arg342=) | |
| 3 | g.184372842del | CA2704881261 | EIF2B5,THPO | c.1154del (p.Gly385AspfsTer3) c.734del (p.Gly245AspfsTer3) c.717del (p.Ile240TyrfsTer?) c.618del (p.Ile207TyrfsTer?) c.2106+228135del (n.2106+228135del) c.722del (p.Gly241AspfsTer3) c.1026del (p.Ile343TyrfsTer?) | dbSNP |
| 3 | g.184372842C>A | CA355461814 | EIF2B5,THPO | c.1153G>T (p.Gly385Ter) c.733G>T (p.Gly245Ter) c.716G>T (p.Arg239Leu) c.617G>T (p.Arg206Leu) c.2106+228135C>A (n.2106+228135C>A) c.721G>T (p.Gly241Ter) c.1025G>T (p.Arg342Leu) | |
| 3 | g.184372842C= | CA1425997840 | EIF2B5,THPO | c.1153G= (p.Gly385=) c.733G= (p.Gly245=) c.716G= (p.Arg239=) c.617G= (p.Arg206=) c.2106+228135C= (n.2106+228135C=) c.721G= (p.Gly241=) c.1025G= (p.Arg342=) | |
| 3 | g.184372842C>G | CA355461815 | EIF2B5,THPO | c.1153G>C (p.Gly385Arg) c.733G>C (p.Gly245Arg) c.716G>C (p.Arg239Pro) c.617G>C (p.Arg206Pro) c.2106+228135C>G (n.2106+228135C>G) c.721G>C (p.Gly241Arg) c.1025G>C (p.Arg342Pro) | |
| 3 | g.184372842C>T | CA2734881 | EIF2B5,THPO | c.1153G>A (p.Gly385Arg) c.733G>A (p.Gly245Arg) c.716G>A (p.Arg239Gln) c.617G>A (p.Arg206Gln) c.2106+228135C>T (n.2106+228135C>T) c.721G>A (p.Gly241Arg) c.1025G>A (p.Arg342Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372843G>A | CA2734882 | EIF2B5,THPO | c.1152C>T (p.Pro384=) c.732C>T (p.Pro244=) c.715C>T (p.Arg239Trp) c.616C>T (p.Arg206Trp) c.2106+228136G>A (n.2106+228136G>A) c.720C>T (p.Pro240=) c.1024C>T (p.Arg342Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372843G>C | CA355461816 | EIF2B5,THPO | c.1152C>G (p.Pro384=) c.732C>G (p.Pro244=) c.715C>G (p.Arg239Gly) c.616C>G (p.Arg206Gly) c.2106+228136G>C (n.2106+228136G>C) c.720C>G (p.Pro240=) c.1024C>G (p.Arg342Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184372843G= | CA1425997841 | EIF2B5,THPO | c.1152C= (p.Pro384=) c.732C= (p.Pro244=) c.715C= (p.Arg239=) c.616C= (p.Arg206=) c.2106+228136G= (n.2106+228136G=) c.720C= (p.Pro240=) c.1024C= (p.Arg342=) | |
| 3 | g.184372843G>T | CA437332801 | EIF2B5,THPO | c.1152C>A (p.Pro384=) c.732C>A (p.Pro244=) c.715C>A (p.Arg239=) c.616C>A (p.Arg206=) c.2106+228136G>T (n.2106+228136G>T) c.720C>A (p.Pro240=) c.1024C>A (p.Arg342=) | COSMIC |
| 3 | g.184372844G>A | CA355461817 | EIF2B5,THPO | c.1151C>T (p.Pro384Leu) c.731C>T (p.Pro244Leu) c.714C>T (p.Pro238=) c.615C>T (p.Pro205=) c.2106+228137G>A (n.2106+228137G>A) c.719C>T (p.Pro240Leu) c.1023C>T (p.Pro341=) | |
| 3 | g.184372844G>C | CA355461818 | EIF2B5,THPO | c.1151C>G (p.Pro384Arg) c.731C>G (p.Pro244Arg) c.714C>G (p.Pro238=) c.615C>G (p.Pro205=) c.2106+228137G>C (n.2106+228137G>C) c.719C>G (p.Pro240Arg) c.1023C>G (p.Pro341=) | |
| 3 | g.184372844G>T | CA355461819 | EIF2B5,THPO | c.1151C>A (p.Pro384His) c.731C>A (p.Pro244His) c.714C>A (p.Pro238=) c.615C>A (p.Pro205=) c.2106+228137G>T (n.2106+228137G>T) c.719C>A (p.Pro240His) c.1023C>A (p.Pro341=) | |
| 3 | g.184372845G>A | CA355461820 | EIF2B5,THPO | c.1150C>T (p.Pro384Ser) c.730C>T (p.Pro244Ser) c.713C>T (p.Pro238Leu) c.614C>T (p.Pro205Leu) c.2106+228138G>A (n.2106+228138G>A) c.718C>T (p.Pro240Ser) c.1022C>T (p.Pro341Leu) | dbSNP |
| 3 | g.184372845G>C | CA355461821 | EIF2B5,THPO | c.1150C>G (p.Pro384Ala) c.730C>G (p.Pro244Ala) c.713C>G (p.Pro238Arg) c.614C>G (p.Pro205Arg) c.2106+228138G>C (n.2106+228138G>C) c.718C>G (p.Pro240Ala) c.1022C>G (p.Pro341Arg) | |
| 3 | g.184372845G>T | CA355461822 | EIF2B5,THPO | c.1150C>A (p.Pro384Thr) c.730C>A (p.Pro244Thr) c.713C>A (p.Pro238His) c.614C>A (p.Pro205His) c.2106+228138G>T (n.2106+228138G>T) c.718C>A (p.Pro240Thr) c.1022C>A (p.Pro341His) | |
| 3 | g.184372846G>A | CA355461823 | EIF2B5,THPO | c.1149C>T (p.Ile383=) c.729C>T (p.Ile243=) c.712C>T (p.Pro238Ser) c.613C>T (p.Pro205Ser) c.2106+228139G>A (n.2106+228139G>A) c.717C>T (p.Ile239=) c.1021C>T (p.Pro341Ser) | |
| 3 | g.184372846G>C | CA355461824 | EIF2B5,THPO | c.1149C>G (p.Ile383Met) c.729C>G (p.Ile243Met) c.712C>G (p.Pro238Ala) c.613C>G (p.Pro205Ala) c.2106+228139G>C (n.2106+228139G>C) c.717C>G (p.Ile239Met) c.1021C>G (p.Pro341Ala) | |
| 3 | g.184372846G= | CA1425997842 | EIF2B5,THPO | c.1149C= (p.Ile383=) c.729C= (p.Ile243=) c.712C= (p.Pro238=) c.613C= (p.Pro205=) c.2106+228139G= (n.2106+228139G=) c.717C= (p.Ile239=) c.1021C= (p.Pro341=) | |
| 3 | g.184372846G>T | CA2734883 | EIF2B5,THPO | c.1149C>A (p.Ile383=) c.729C>A (p.Ile243=) c.712C>A (p.Pro238Thr) c.613C>A (p.Pro205Thr) c.2106+228139G>T (n.2106+228139G>T) c.717C>A (p.Ile239=) c.1021C>A (p.Pro341Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372847A>C | CA355461825 | EIF2B5,THPO | c.1148T>G (p.Ile383Ser) c.728T>G (p.Ile243Ser) c.711T>G (p.Asn237Lys) c.612T>G (p.Asn204Lys) c.2106+228140A>C (n.2106+228140A>C) c.716T>G (p.Ile239Ser) c.1020T>G (p.Asn340Lys) | COSMIC |
| 3 | g.184372847A>G | CA355461826 | EIF2B5,THPO | c.1148T>C (p.Ile383Thr) c.728T>C (p.Ile243Thr) c.711T>C (p.Asn237=) c.612T>C (p.Asn204=) c.2106+228140A>G (n.2106+228140A>G) c.716T>C (p.Ile239Thr) c.1020T>C (p.Asn340=) | |
| 3 | g.184372847A>T | CA355461827 | EIF2B5,THPO | c.1148T>A (p.Ile383Asn) c.728T>A (p.Ile243Asn) c.711T>A (p.Asn237Lys) c.612T>A (p.Asn204Lys) c.2106+228140A>T (n.2106+228140A>T) c.716T>A (p.Ile239Asn) c.1020T>A (p.Asn340Lys) | |
| 3 | g.184372848T>A | CA355461828 | EIF2B5,THPO | c.1147A>T (p.Ile383Phe) c.727A>T (p.Ile243Phe) c.710A>T (p.Asn237Ile) c.611A>T (p.Asn204Ile) c.2106+228141T>A (n.2106+228141T>A) c.715A>T (p.Ile239Phe) c.1019A>T (p.Asn340Ile) | |
| 3 | g.184372848T>C | CA355461830 | EIF2B5,THPO | c.1147A>G (p.Ile383Val) c.727A>G (p.Ile243Val) c.710A>G (p.Asn237Ser) c.611A>G (p.Asn204Ser) c.2106+228141T>C (n.2106+228141T>C) c.715A>G (p.Ile239Val) c.1019A>G (p.Asn340Ser) | gnomAD v4 |
| 3 | g.184372848T>G | CA355461829 | EIF2B5,THPO | c.1147A>C (p.Ile383Leu) c.727A>C (p.Ile243Leu) c.710A>C (p.Asn237Thr) c.611A>C (p.Asn204Thr) c.2106+228141T>G (n.2106+228141T>G) c.715A>C (p.Ile239Leu) c.1019A>C (p.Asn340Thr) | |
| 3 | g.184372849T>A | CA355461831 | EIF2B5,THPO | c.1146A>T (p.Gln382His) c.726A>T (p.Gln242His) c.709A>T (p.Asn237Tyr) c.610A>T (p.Asn204Tyr) c.2106+228142T>A (n.2106+228142T>A) c.714A>T (p.Gln238His) c.1018A>T (p.Asn340Tyr) | |
| 3 | g.184372849T>C | CA355461832 | EIF2B5,THPO | c.1146A>G (p.Gln382=) c.726A>G (p.Gln242=) c.709A>G (p.Asn237Asp) c.610A>G (p.Asn204Asp) c.2106+228142T>C (n.2106+228142T>C) c.714A>G (p.Gln238=) c.1018A>G (p.Asn340Asp) | |
| 3 | g.184372849T>G | CA355461833 | EIF2B5,THPO | c.1146A>C (p.Gln382His) c.726A>C (p.Gln242His) c.709A>C (p.Asn237His) c.610A>C (p.Asn204His) c.2106+228142T>G (n.2106+228142T>G) c.714A>C (p.Gln238His) c.1018A>C (p.Asn340His) | |
| 3 | g.184372850T>A | CA355461834 | EIF2B5,THPO | c.1145A>T (p.Gln382Leu) c.725A>T (p.Gln242Leu) c.708A>T (p.Pro236=) c.609A>T (p.Pro203=) c.2106+228143T>A (n.2106+228143T>A) c.713A>T (p.Gln238Leu) c.1017A>T (p.Pro339=) | |
| 3 | g.184372850T>C | CA355461835 | EIF2B5,THPO | c.1145A>G (p.Gln382Arg) c.725A>G (p.Gln242Arg) c.708A>G (p.Pro236=) c.609A>G (p.Pro203=) c.2106+228143T>C (n.2106+228143T>C) c.713A>G (p.Gln238Arg) c.1017A>G (p.Pro339=) | |
| 3 | g.184372850T>G | CA355461836 | EIF2B5,THPO | c.1145A>C (p.Gln382Pro) c.725A>C (p.Gln242Pro) c.708A>C (p.Pro236=) c.609A>C (p.Pro203=) c.2106+228143T>G (n.2106+228143T>G) c.713A>C (p.Gln238Pro) c.1017A>C (p.Pro339=) | |
| 3 | g.184372851G>A | CA355461837 | EIF2B5,THPO | c.1144C>T (p.Gln382Ter) c.724C>T (p.Gln242Ter) c.707C>T (p.Pro236Leu) c.608C>T (p.Pro203Leu) c.2106+228144G>A (n.2106+228144G>A) c.712C>T (p.Gln238Ter) c.1016C>T (p.Pro339Leu) | |
| 3 | g.184372851G>C | CA355461838 | EIF2B5,THPO | c.1144C>G (p.Gln382Glu) c.724C>G (p.Gln242Glu) c.707C>G (p.Pro236Arg) c.608C>G (p.Pro203Arg) c.2106+228144G>C (n.2106+228144G>C) c.712C>G (p.Gln238Glu) c.1016C>G (p.Pro339Arg) | |
| 3 | g.184372851G>T | CA355461839 | EIF2B5,THPO | c.1144C>A (p.Gln382Lys) c.724C>A (p.Gln242Lys) c.707C>A (p.Pro236Gln) c.608C>A (p.Pro203Gln) c.2106+228144G>T (n.2106+228144G>T) c.712C>A (p.Gln238Lys) c.1016C>A (p.Pro339Gln) | |
| 3 | g.184372852G>A | CA355461840 | EIF2B5,THPO | c.1143C>T (p.Asp381=) c.723C>T (p.Asp241=) c.706C>T (p.Pro236Ser) c.607C>T (p.Pro203Ser) c.2106+228145G>A (n.2106+228145G>A) c.711C>T (p.Asp237=) c.1015C>T (p.Pro339Ser) | |
| 3 | g.184372852G>C | CA2734884 | EIF2B5,THPO | c.1143C>G (p.Asp381Glu) c.723C>G (p.Asp241Glu) c.706C>G (p.Pro236Ala) c.607C>G (p.Pro203Ala) c.2106+228145G>C (n.2106+228145G>C) c.711C>G (p.Asp237Glu) c.1015C>G (p.Pro339Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372852G= | CA1425997843 | EIF2B5,THPO | c.1143C= (p.Asp381=) c.723C= (p.Asp241=) c.706C= (p.Pro236=) c.607C= (p.Pro203=) c.2106+228145G= (n.2106+228145G=) c.711C= (p.Asp237=) c.1015C= (p.Pro339=) | |
| 3 | g.184372852G>T | CA355461841 | EIF2B5,THPO | c.1143C>A (p.Asp381Glu) c.723C>A (p.Asp241Glu) c.706C>A (p.Pro236Thr) c.607C>A (p.Pro203Thr) c.2106+228145G>T (n.2106+228145G>T) c.711C>A (p.Asp237Glu) c.1015C>A (p.Pro339Thr) | |
| 3 | g.184372853T>A | CA355461844 | EIF2B5,THPO | c.1142A>T (p.Asp381Val) c.722A>T (p.Asp241Val) c.705A>T (p.Gly235=) c.606A>T (p.Gly202=) c.2106+228146T>A (n.2106+228146T>A) c.710A>T (p.Asp237Val) c.1014A>T (p.Gly338=) | gnomAD v4 |
| 3 | g.184372853T>C | CA355461842 | EIF2B5,THPO | c.1142A>G (p.Asp381Gly) c.722A>G (p.Asp241Gly) c.705A>G (p.Gly235=) c.606A>G (p.Gly202=) c.2106+228146T>C (n.2106+228146T>C) c.710A>G (p.Asp237Gly) c.1014A>G (p.Gly338=) | |
| 3 | g.184372853T>G | CA355461843 | EIF2B5,THPO | c.1142A>C (p.Asp381Ala) c.722A>C (p.Asp241Ala) c.705A>C (p.Gly235=) c.606A>C (p.Gly202=) c.2106+228146T>G (n.2106+228146T>G) c.710A>C (p.Asp237Ala) c.1014A>C (p.Gly338=) | |
| 3 | g.184372854C>A | CA355461845 | EIF2B5,THPO | c.1141G>T (p.Asp381Tyr) c.721G>T (p.Asp241Tyr) c.704G>T (p.Gly235Val) c.605G>T (p.Gly202Val) c.2106+228147C>A (n.2106+228147C>A) c.709G>T (p.Asp237Tyr) c.1013G>T (p.Gly338Val) | |
| 3 | g.184372854C= | CA1425997844 | EIF2B5,THPO | c.1141G= (p.Asp381=) c.721G= (p.Asp241=) c.704G= (p.Gly235=) c.605G= (p.Gly202=) c.2106+228147C= (n.2106+228147C=) c.709G= (p.Asp237=) c.1013G= (p.Gly338=) | |
| 3 | g.184372854C>G | CA355461846 | EIF2B5,THPO | c.1141G>C (p.Asp381His) c.721G>C (p.Asp241His) c.704G>C (p.Gly235Ala) c.605G>C (p.Gly202Ala) c.2106+228147C>G (n.2106+228147C>G) c.709G>C (p.Asp237His) c.1013G>C (p.Gly338Ala) | |
| 3 | g.184372854C>T | CA355461847 | EIF2B5,THPO | c.1141G>A (p.Asp381Asn) c.721G>A (p.Asp241Asn) c.704G>A (p.Gly235Glu) c.605G>A (p.Gly202Glu) c.2106+228147C>T (n.2106+228147C>T) c.709G>A (p.Asp237Asn) c.1013G>A (p.Gly338Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184372855C>A | CA355461848 | EIF2B5,THPO | c.1140G>T (p.Leu380=) c.720G>T (p.Leu240=) c.703G>T (p.Gly235Ter) c.604G>T (p.Gly202Ter) c.2106+228148C>A (n.2106+228148C>A) c.708G>T (p.Leu236=) c.1012G>T (p.Gly338Ter) | |
| 3 | g.184372855C>G | CA355461849 | EIF2B5,THPO | c.1140G>C (p.Leu380=) c.720G>C (p.Leu240=) c.703G>C (p.Gly235Arg) c.604G>C (p.Gly202Arg) c.2106+228148C>G (n.2106+228148C>G) c.708G>C (p.Leu236=) c.1012G>C (p.Gly338Arg) | |
| 3 | g.184372855C>T | CA355461850 | EIF2B5,THPO | c.1140G>A (p.Leu380=) c.720G>A (p.Leu240=) c.703G>A (p.Gly235Arg) c.604G>A (p.Gly202Arg) c.2106+228148C>T (n.2106+228148C>T) c.708G>A (p.Leu236=) c.1012G>A (p.Gly338Arg) | |
| 3 | g.184372856A>C | CA355461851 | EIF2B5,THPO | c.1139T>G (p.Leu380Arg) c.719T>G (p.Leu240Arg) c.702T>G (p.Pro234=) c.603T>G (p.Pro201=) c.2106+228149A>C (n.2106+228149A>C) c.707T>G (p.Leu236Arg) c.1011T>G (p.Pro337=) | gnomAD v4 |
| 3 | g.184372856A>G | CA355461852 | EIF2B5,THPO | c.1139T>C (p.Leu380Pro) c.719T>C (p.Leu240Pro) c.702T>C (p.Pro234=) c.603T>C (p.Pro201=) c.2106+228149A>G (n.2106+228149A>G) c.707T>C (p.Leu236Pro) c.1011T>C (p.Pro337=) | |
| 3 | g.184372856A>T | CA355461853 | EIF2B5,THPO | c.1139T>A (p.Leu380Gln) c.719T>A (p.Leu240Gln) c.702T>A (p.Pro234=) c.603T>A (p.Pro201=) c.2106+228149A>T (n.2106+228149A>T) c.707T>A (p.Leu236Gln) c.1011T>A (p.Pro337=) | |
| 3 | g.184372857G>A | CA355461854 | EIF2B5,THPO | c.1138C>T (p.Leu380=) c.718C>T (p.Leu240=) c.701C>T (p.Pro234Leu) c.602C>T (p.Pro201Leu) c.2106+228150G>A (n.2106+228150G>A) c.706C>T (p.Leu236=) c.1010C>T (p.Pro337Leu) | |
| 3 | g.184372857G>C | CA355461855 | EIF2B5,THPO | c.1138C>G (p.Leu380Val) c.718C>G (p.Leu240Val) c.701C>G (p.Pro234Arg) c.602C>G (p.Pro201Arg) c.2106+228150G>C (n.2106+228150G>C) c.706C>G (p.Leu236Val) c.1010C>G (p.Pro337Arg) | |
| 3 | g.184372857G>T | CA355461856 | EIF2B5,THPO | c.1138C>A (p.Leu380Met) c.718C>A (p.Leu240Met) c.701C>A (p.Pro234His) c.602C>A (p.Pro201His) c.2106+228150G>T (n.2106+228150G>T) c.706C>A (p.Leu236Met) c.1010C>A (p.Pro337His) | gnomAD v4 |
| 3 | g.184372858G>A | CA2734885 | EIF2B5,THPO | c.1137C>T (p.Ser379=) c.717C>T (p.Ser239=) c.700C>T (p.Pro234Ser) c.601C>T (p.Pro201Ser) c.2106+228151G>A (n.2106+228151G>A) c.705C>T (p.Ser235=) c.1009C>T (p.Pro337Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.184372858G>C | CA355461858 | EIF2B5,THPO | c.1137C>G (p.Ser379=) c.717C>G (p.Ser239=) c.700C>G (p.Pro234Ala) c.601C>G (p.Pro201Ala) c.2106+228151G>C (n.2106+228151G>C) c.705C>G (p.Ser235=) c.1009C>G (p.Pro337Ala) | |
| 3 | g.184372858G= | CA1425997845 | EIF2B5,THPO | c.1137C= (p.Ser379=) c.717C= (p.Ser239=) c.700C= (p.Pro234=) c.601C= (p.Pro201=) c.2106+228151G= (n.2106+228151G=) c.705C= (p.Ser235=) c.1009C= (p.Pro337=) | |
| 3 | g.184372858G>T | CA355461857 | EIF2B5,THPO | c.1137C>A (p.Ser379=) c.717C>A (p.Ser239=) c.700C>A (p.Pro234Thr) c.601C>A (p.Pro201Thr) c.2106+228151G>T (n.2106+228151G>T) c.705C>A (p.Ser235=) c.1009C>A (p.Pro337Thr) | dbSNP gnomAD v4 |
| 3 | g.184372859G>A | CA355461859 | EIF2B5,THPO | c.1136C>T (p.Ser379Phe) c.716C>T (p.Ser239Phe) c.699C>T (p.Val233=) c.600C>T (p.Val200=) c.2106+228152G>A (n.2106+228152G>A) c.704C>T (p.Ser235Phe) c.1008C>T (p.Val336=) | gnomAD v4 |
| 3 | g.184372859G>C | CA355461861 | EIF2B5,THPO | c.1136C>G (p.Ser379Cys) c.716C>G (p.Ser239Cys) c.699C>G (p.Val233=) c.600C>G (p.Val200=) c.2106+228152G>C (n.2106+228152G>C) c.704C>G (p.Ser235Cys) c.1008C>G (p.Val336=) | |
| 3 | g.184372859G>T | CA355461860 | EIF2B5,THPO | c.1136C>A (p.Ser379Tyr) c.716C>A (p.Ser239Tyr) c.699C>A (p.Val233=) c.600C>A (p.Val200=) c.2106+228152G>T (n.2106+228152G>T) c.704C>A (p.Ser235Tyr) c.1008C>A (p.Val336=) | |
| 3 | g.184372860A>C | CA355461862 | EIF2B5,THPO | c.1135T>G (p.Ser379Ala) c.715T>G (p.Ser239Ala) c.698T>G (p.Val233Gly) c.599T>G (p.Val200Gly) c.2106+228153A>C (n.2106+228153A>C) c.703T>G (p.Ser235Ala) c.1007T>G (p.Val336Gly) | |
| 3 | g.184372860A>G | CA355461863 | EIF2B5,THPO | c.1135T>C (p.Ser379Pro) c.715T>C (p.Ser239Pro) c.698T>C (p.Val233Ala) c.599T>C (p.Val200Ala) c.2106+228153A>G (n.2106+228153A>G) c.703T>C (p.Ser235Pro) c.1007T>C (p.Val336Ala) | |
| 3 | g.184372860A>T | CA355461864 | EIF2B5,THPO | c.1135T>A (p.Ser379Thr) c.715T>A (p.Ser239Thr) c.698T>A (p.Val233Asp) c.599T>A (p.Val200Asp) c.2106+228153A>T (n.2106+228153A>T) c.703T>A (p.Ser235Thr) c.1007T>A (p.Val336Asp) | |
| 3 | g.184372861C>A | CA355461865 | EIF2B5,THPO | c.1134G>T (p.Arg378Ser) c.714G>T (p.Arg238Ser) c.697G>T (p.Val233Phe) c.598G>T (p.Val200Phe) c.2106+228154C>A (n.2106+228154C>A) c.702G>T (p.Arg234Ser) c.1006G>T (p.Val336Phe) | |
| 3 | g.184372861C>G | CA355461866 | EIF2B5,THPO | c.1134G>C (p.Arg378Ser) c.714G>C (p.Arg238Ser) c.697G>C (p.Val233Leu) c.598G>C (p.Val200Leu) c.2106+228154C>G (n.2106+228154C>G) c.702G>C (p.Arg234Ser) c.1006G>C (p.Val336Leu) | |
| 3 | g.184372861C>T | CA355461867 | EIF2B5,THPO | c.1134G>A (p.Arg378=) c.714G>A (p.Arg238=) c.697G>A (p.Val233Ile) c.598G>A (p.Val200Ile) c.2106+228154C>T (n.2106+228154C>T) c.702G>A (p.Arg234=) c.1006G>A (p.Val336Ile) | gnomAD v4 |
| 3 | g.184372862del | CA2668833182 | EIF2B5,THPO | c.1134del (p.Arg378SerfsTer10) c.714del (p.Arg238SerfsTer10) c.697del (p.Val233SerfsTer?) c.598del (p.Val200SerfsTer?) c.2106+228155del (n.2106+228155del) c.702del (p.Arg234SerfsTer10) c.1006del (p.Val336SerfsTer?) | gnomAD v4 |
| 3 | g.184372862C>A | CA355461870 | EIF2B5,THPO | c.1133G>T (p.Arg378Met) c.713G>T (p.Arg238Met) c.696G>T (p.Gln232His) c.597G>T (p.Gln199His) c.2106+228155C>A (n.2106+228155C>A) c.701G>T (p.Arg234Met) c.1005G>T (p.Gln335His) | |
| 3 | g.184372862C>G | CA355461869 | EIF2B5,THPO | c.1133G>C (p.Arg378Thr) c.713G>C (p.Arg238Thr) c.696G>C (p.Gln232His) c.597G>C (p.Gln199His) c.2106+228155C>G (n.2106+228155C>G) c.701G>C (p.Arg234Thr) c.1005G>C (p.Gln335His) | gnomAD v4 |
| 3 | g.184372862C>T | CA355461868 | EIF2B5,THPO | c.1133G>A (p.Arg378Lys) c.713G>A (p.Arg238Lys) c.696G>A (p.Gln232=) c.597G>A (p.Gln199=) c.2106+228155C>T (n.2106+228155C>T) c.701G>A (p.Arg234Lys) c.1005G>A (p.Gln335=) | |
| 3 | g.184372863T>A | CA355461871 | EIF2B5,THPO | c.1132A>T (p.Arg378Trp) c.712A>T (p.Arg238Trp) c.695A>T (p.Gln232Leu) c.596A>T (p.Gln199Leu) c.2106+228156T>A (n.2106+228156T>A) c.700A>T (p.Arg234Trp) c.1004A>T (p.Gln335Leu) | |
| 3 | g.184372863T>C | CA355461872 | EIF2B5,THPO | c.1132A>G (p.Arg378Gly) c.712A>G (p.Arg238Gly) c.695A>G (p.Gln232Arg) c.596A>G (p.Gln199Arg) c.2106+228156T>C (n.2106+228156T>C) c.700A>G (p.Arg234Gly) c.1004A>G (p.Gln335Arg) | |
| 3 | g.184372863T>G | CA355461873 | EIF2B5,THPO | c.1132A>C (p.Arg378=) c.712A>C (p.Arg238=) c.695A>C (p.Gln232Pro) c.596A>C (p.Gln199Pro) c.2106+228156T>G (n.2106+228156T>G) c.700A>C (p.Arg234=) c.1004A>C (p.Gln335Pro) | |
| 3 | g.184372864G>A | CA355461874 | EIF2B5,THPO | c.1131C>T (p.Ser377=) c.711C>T (p.Ser237=) c.694C>T (p.Gln232Ter) c.595C>T (p.Gln199Ter) c.2106+228157G>A (n.2106+228157G>A) c.699C>T (p.Ser233=) c.1003C>T (p.Gln335Ter) | |
| 3 | g.184372864G>C | CA355461875 | EIF2B5,THPO | c.1131C>G (p.Ser377=) c.711C>G (p.Ser237=) c.694C>G (p.Gln232Glu) c.595C>G (p.Gln199Glu) c.2106+228157G>C (n.2106+228157G>C) c.699C>G (p.Ser233=) c.1003C>G (p.Gln335Glu) | |
| 3 | g.184372864G>T | CA355461876 | EIF2B5,THPO | c.1131C>A (p.Ser377=) c.711C>A (p.Ser237=) c.694C>A (p.Gln232Lys) c.595C>A (p.Gln199Lys) c.2106+228157G>T (n.2106+228157G>T) c.699C>A (p.Ser233=) c.1003C>A (p.Gln335Lys) | |
| 3 | g.184372865G>A | CA355461877 | EIF2B5,THPO | c.1130C>T (p.Ser377Phe) c.710C>T (p.Ser237Phe) c.693C>T (p.Leu231=) c.594C>T (p.Leu198=) c.2106+228158G>A (n.2106+228158G>A) c.698C>T (p.Ser233Phe) c.1002C>T (p.Leu334=) | |
| 3 | g.184372865G>C | CA355461879 | EIF2B5,THPO | c.1130C>G (p.Ser377Cys) c.710C>G (p.Ser237Cys) c.693C>G (p.Leu231=) c.594C>G (p.Leu198=) c.2106+228158G>C (n.2106+228158G>C) c.698C>G (p.Ser233Cys) c.1002C>G (p.Leu334=) | |
| 3 | g.184372865G>T | CA355461878 | EIF2B5,THPO | c.1130C>A (p.Ser377Tyr) c.710C>A (p.Ser237Tyr) c.693C>A (p.Leu231=) c.594C>A (p.Leu198=) c.2106+228158G>T (n.2106+228158G>T) c.698C>A (p.Ser233Tyr) c.1002C>A (p.Leu334=) | |
| 3 | g.184372866A>C | CA355461880 | EIF2B5,THPO | c.1129T>G (p.Ser377Ala) c.709T>G (p.Ser237Ala) c.692T>G (p.Leu231Arg) c.593T>G (p.Leu198Arg) c.2106+228159A>C (n.2106+228159A>C) c.697T>G (p.Ser233Ala) c.1001T>G (p.Leu334Arg) | |
| 3 | g.184372866A>G | CA355461881 | EIF2B5,THPO | c.1129T>C (p.Ser377Pro) c.709T>C (p.Ser237Pro) c.692T>C (p.Leu231Pro) c.593T>C (p.Leu198Pro) c.2106+228159A>G (n.2106+228159A>G) c.697T>C (p.Ser233Pro) c.1001T>C (p.Leu334Pro) | |
| 3 | g.184372866A>T | CA355461882 | EIF2B5,THPO | c.1129T>A (p.Ser377Thr) c.709T>A (p.Ser237Thr) c.692T>A (p.Leu231His) c.593T>A (p.Leu198His) c.2106+228159A>T (n.2106+228159A>T) c.697T>A (p.Ser233Thr) c.1001T>A (p.Leu334His) | |
| 3 | g.184372867G>A | CA355461883 | EIF2B5,THPO | c.1128C>T (p.Thr376=) c.708C>T (p.Thr236=) c.691C>T (p.Leu231Phe) c.592C>T (p.Leu198Phe) c.2106+228160G>A (n.2106+228160G>A) c.696C>T (p.Thr232=) c.1000C>T (p.Leu334Phe) | dbSNP |
| 3 | g.184372867G>C | CA355461884 | EIF2B5,THPO | c.1128C>G (p.Thr376=) c.708C>G (p.Thr236=) c.691C>G (p.Leu231Val) c.592C>G (p.Leu198Val) c.2106+228160G>C (n.2106+228160G>C) c.696C>G (p.Thr232=) c.1000C>G (p.Leu334Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184372867G= | CA1425997846 | EIF2B5,THPO | c.1128C= (p.Thr376=) c.708C= (p.Thr236=) c.691C= (p.Leu231=) c.592C= (p.Leu198=) c.2106+228160G= (n.2106+228160G=) c.696C= (p.Thr232=) c.1000C= (p.Leu334=) | |
| 3 | g.184372867G>T | CA355461885 | EIF2B5,THPO | c.1128C>A (p.Thr376=) c.708C>A (p.Thr236=) c.691C>A (p.Leu231Ile) c.592C>A (p.Leu198Ile) c.2106+228160G>T (n.2106+228160G>T) c.696C>A (p.Thr232=) c.1000C>A (p.Leu334Ile) | |
| 3 | g.184372868G>A | CA355461886 | EIF2B5,THPO | c.1127C>T (p.Thr376Ile) c.707C>T (p.Thr236Ile) c.690C>T (p.Asn230=) c.591C>T (p.Asn197=) c.2106+228161G>A (n.2106+228161G>A) c.695C>T (p.Thr232Ile) c.999C>T (p.Asn333=) | |
| 3 | g.184372868G>C | CA355461887 | EIF2B5,THPO | c.1127C>G (p.Thr376Ser) c.707C>G (p.Thr236Ser) c.690C>G (p.Asn230Lys) c.591C>G (p.Asn197Lys) c.2106+228161G>C (n.2106+228161G>C) c.695C>G (p.Thr232Ser) c.999C>G (p.Asn333Lys) | |
| 3 | g.184372868G>T | CA355461888 | EIF2B5,THPO | c.1127C>A (p.Thr376Asn) c.707C>A (p.Thr236Asn) c.690C>A (p.Asn230Lys) c.591C>A (p.Asn197Lys) c.2106+228161G>T (n.2106+228161G>T) c.695C>A (p.Thr232Asn) c.999C>A (p.Asn333Lys) | gnomAD v4 |
| 3 | g.184372868_184372869delinsGT | CA1425997847 | EIF2B5,THPO | c.1126_1127delinsAC (p.Thr376=) c.706_707delinsAC (p.Thr236=) c.689_690delinsAC (p.Asn230=) c.590_591delinsAC (p.Asn197=) c.2106+228161_2106+228162delinsGT (n.2106+228161_2106+228162delinsGT) c.694_695delinsAC (p.Thr232=) c.998_999delinsAC (p.Asn333=) | |
| 3 | g.184372869T>A | CA355461889 | EIF2B5,THPO | c.1126A>T (p.Thr376Ser) c.706A>T (p.Thr236Ser) c.689A>T (p.Asn230Ile) c.590A>T (p.Asn197Ile) c.2106+228162T>A (n.2106+228162T>A) c.694A>T (p.Thr232Ser) c.998A>T (p.Asn333Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.184372869T>C | CA355461890 | EIF2B5,THPO | c.1126A>G (p.Thr376Ala) c.706A>G (p.Thr236Ala) c.689A>G (p.Asn230Ser) c.590A>G (p.Asn197Ser) c.2106+228162T>C (n.2106+228162T>C) c.694A>G (p.Thr232Ala) c.998A>G (p.Asn333Ser) | |
| 3 | g.184372869T>G | CA355461891 | EIF2B5,THPO | c.1126A>C (p.Thr376Pro) c.706A>C (p.Thr236Pro) c.689A>C (p.Asn230Thr) c.590A>C (p.Asn197Thr) c.2106+228162T>G (n.2106+228162T>G) c.694A>C (p.Thr232Pro) c.998A>C (p.Asn333Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.184372869T= | CA1425997848 | EIF2B5,THPO | c.1126A= (p.Thr376=) c.706A= (p.Thr236=) c.689A= (p.Asn230=) c.590A= (p.Asn197=) c.2106+228162T= (n.2106+228162T=) c.694A= (p.Thr232=) c.998A= (p.Asn333=) | |
| 3 | g.184372871del | CA548795851 | EIF2B5,THPO | c.1126del (p.Thr376ProfsTer12) c.706del (p.Thr236ProfsTer12) c.689del (p.Asn230ThrfsTer?) c.590del (p.Asn197ThrfsTer?) c.2106+228164del (n.2106+228164del) c.694del (p.Thr232ProfsTer12) c.998del (p.Asn333ThrfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184372870T>A | CA355461894 | EIF2B5,THPO | c.1125A>T (p.Gln375His) c.705A>T (p.Gln235His) c.688A>T (p.Asn230Tyr) c.589A>T (p.Asn197Tyr) c.2106+228163T>A (n.2106+228163T>A) c.693A>T (p.Gln231His) c.997A>T (p.Asn333Tyr) | |
| 3 | g.184372870T>C | CA355461892 | EIF2B5,THPO | c.1125A>G (p.Gln375=) c.705A>G (p.Gln235=) c.688A>G (p.Asn230Asp) c.589A>G (p.Asn197Asp) c.2106+228163T>C (n.2106+228163T>C) c.693A>G (p.Gln231=) c.997A>G (p.Asn333Asp) | |
| 3 | g.184372870T>G | CA355461893 | EIF2B5,THPO | c.1125A>C (p.Gln375His) c.705A>C (p.Gln235His) c.688A>C (p.Asn230His) c.589A>C (p.Asn197His) c.2106+228163T>G (n.2106+228163T>G) c.693A>C (p.Gln231His) c.997A>C (p.Asn333His) | |
| 3 | g.184372871T>A | CA355461895 | EIF2B5,THPO | c.1124A>T (p.Gln375Leu) c.704A>T (p.Gln235Leu) c.687A>T (p.Pro229=) c.588A>T (p.Pro196=) c.2106+228164T>A (n.2106+228164T>A) c.692A>T (p.Gln231Leu) c.996A>T (p.Pro332=) | |
| 3 | g.184372871T>C | CA2734886 | EIF2B5,THPO | c.1124A>G (p.Gln375Arg) c.704A>G (p.Gln235Arg) c.687A>G (p.Pro229=) c.588A>G (p.Pro196=) c.2106+228164T>C (n.2106+228164T>C) c.692A>G (p.Gln231Arg) c.996A>G (p.Pro332=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372871T>G | CA355461896 | EIF2B5,THPO | c.1124A>C (p.Gln375Pro) c.704A>C (p.Gln235Pro) c.687A>C (p.Pro229=) c.588A>C (p.Pro196=) c.2106+228164T>G (n.2106+228164T>G) c.692A>C (p.Gln231Pro) c.996A>C (p.Pro332=) | |
| 3 | g.184372871T= | CA1425997849 | EIF2B5,THPO | c.1124A= (p.Gln375=) c.704A= (p.Gln235=) c.687A= (p.Pro229=) c.588A= (p.Pro196=) c.2106+228164T= (n.2106+228164T=) c.692A= (p.Gln231=) c.996A= (p.Pro332=) | |
| 3 | g.184372872G>A | CA2734887 | EIF2B5,THPO | c.1123C>T (p.Gln375Ter) c.703C>T (p.Gln235Ter) c.686C>T (p.Pro229Leu) c.587C>T (p.Pro196Leu) c.2106+228165G>A (n.2106+228165G>A) c.691C>T (p.Gln231Ter) c.995C>T (p.Pro332Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.184372872G>C | CA355461897 | EIF2B5,THPO | c.1123C>G (p.Gln375Glu) c.703C>G (p.Gln235Glu) c.686C>G (p.Pro229Arg) c.587C>G (p.Pro196Arg) c.2106+228165G>C (n.2106+228165G>C) c.691C>G (p.Gln231Glu) c.995C>G (p.Pro332Arg) | gnomAD v4 |
| 3 | g.184372872G= | CA1425997850 | EIF2B5,THPO | c.1123C= (p.Gln375=) c.703C= (p.Gln235=) c.686C= (p.Pro229=) c.587C= (p.Pro196=) c.2106+228165G= (n.2106+228165G=) c.691C= (p.Gln231=) c.995C= (p.Pro332=) | |
| 3 | g.184372872G>T | CA355461898 | EIF2B5,THPO | c.1123C>A (p.Gln375Lys) c.703C>A (p.Gln235Lys) c.686C>A (p.Pro229Gln) c.587C>A (p.Pro196Gln) c.2106+228165G>T (n.2106+228165G>T) c.691C>A (p.Gln231Lys) c.995C>A (p.Pro332Gln) | |
| 3 | g.184372873G>A | CA355461899 | EIF2B5,THPO | c.1122C>T (p.Asn374=) c.702C>T (p.Asn234=) c.685C>T (p.Pro229Ser) c.586C>T (p.Pro196Ser) c.2106+228166G>A (n.2106+228166G>A) c.690C>T (p.Asn230=) c.994C>T (p.Pro332Ser) | dbSNP gnomAD v4 |
| 3 | g.184372873G>C | CA355461900 | EIF2B5,THPO | c.1122C>G (p.Asn374Lys) c.702C>G (p.Asn234Lys) c.685C>G (p.Pro229Ala) c.586C>G (p.Pro196Ala) c.2106+228166G>C (n.2106+228166G>C) c.690C>G (p.Asn230Lys) c.994C>G (p.Pro332Ala) | |
| 3 | g.184372873G= | CA1425997851 | EIF2B5,THPO | c.1122C= (p.Asn374=) c.702C= (p.Asn234=) c.685C= (p.Pro229=) c.586C= (p.Pro196=) c.2106+228166G= (n.2106+228166G=) c.690C= (p.Asn230=) c.994C= (p.Pro332=) | |
| 3 | g.184372873G>T | CA355461901 | EIF2B5,THPO | c.1122C>A (p.Asn374Lys) c.702C>A (p.Asn234Lys) c.685C>A (p.Pro229Thr) c.586C>A (p.Pro196Thr) c.2106+228166G>T (n.2106+228166G>T) c.690C>A (p.Asn230Lys) c.994C>A (p.Pro332Thr) | |
| 3 | g.184372874T>A | CA355461902 | EIF2B5,THPO | c.1121A>T (p.Asn374Ile) c.701A>T (p.Asn234Ile) c.684A>T (p.Glu228Asp) c.585A>T (p.Glu195Asp) c.2106+228167T>A (n.2106+228167T>A) c.689A>T (p.Asn230Ile) c.993A>T (p.Glu331Asp) | |
| 3 | g.184372874T>C | CA355461903 | EIF2B5,THPO | c.1121A>G (p.Asn374Ser) c.701A>G (p.Asn234Ser) c.684A>G (p.Glu228=) c.585A>G (p.Glu195=) c.2106+228167T>C (n.2106+228167T>C) c.689A>G (p.Asn230Ser) c.993A>G (p.Glu331=) | |
| 3 | g.184372874T>G | CA355461904 | EIF2B5,THPO | c.1121A>C (p.Asn374Thr) c.701A>C (p.Asn234Thr) c.684A>C (p.Glu228Asp) c.585A>C (p.Glu195Asp) c.2106+228167T>G (n.2106+228167T>G) c.689A>C (p.Asn230Thr) c.993A>C (p.Glu331Asp) | |
| 3 | g.184372875T>A | CA355461907 | EIF2B5,THPO | c.1120A>T (p.Asn374Tyr) c.700A>T (p.Asn234Tyr) c.683A>T (p.Glu228Val) c.584A>T (p.Glu195Val) c.2106+228168T>A (n.2106+228168T>A) c.688A>T (p.Asn230Tyr) c.992A>T (p.Glu331Val) | |
| 3 | g.184372875T>C | CA355461906 | EIF2B5,THPO | c.1120A>G (p.Asn374Asp) c.700A>G (p.Asn234Asp) c.683A>G (p.Glu228Gly) c.584A>G (p.Glu195Gly) c.2106+228168T>C (n.2106+228168T>C) c.688A>G (p.Asn230Asp) c.992A>G (p.Glu331Gly) | |
| 3 | g.184372875T>G | CA355461905 | EIF2B5,THPO | c.1120A>C (p.Asn374His) c.700A>C (p.Asn234His) c.683A>C (p.Glu228Ala) c.584A>C (p.Glu195Ala) c.2106+228168T>G (n.2106+228168T>G) c.688A>C (p.Asn230His) c.992A>C (p.Glu331Ala) | |
| 3 | g.184372875_184372878delinsTCAG | CA1425997852 | EIF2B5,THPO | c.1117_1120delinsCTGA (p.Leu373=) c.697_700delinsCTGA (p.Leu233=) c.680_683delinsCTGA (p.Ala227=) c.581_584delinsCTGA (p.Ala194=) c.2106+228168_2106+228171delinsTCAG (n.2106+228168_2106+228171delinsTCAG) c.685_688delinsCTGA (p.Leu229=) c.989_992delinsCTGA (p.Ala330=) | |
| 3 | g.184372876C>A | CA2734889 | EIF2B5,THPO | c.1119G>T (p.Leu373=) c.699G>T (p.Leu233=) c.682G>T (p.Glu228Ter) c.583G>T (p.Glu195Ter) c.2106+228169C>A (n.2106+228169C>A) c.687G>T (p.Leu229=) c.991G>T (p.Glu331Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372876C= | CA1425997853 | EIF2B5,THPO | c.1119G= (p.Leu373=) c.699G= (p.Leu233=) c.682G= (p.Glu228=) c.583G= (p.Glu195=) c.2106+228169C= (n.2106+228169C=) c.687G= (p.Leu229=) c.991G= (p.Glu331=) | |
| 3 | g.184372876C>G | CA355461908 | EIF2B5,THPO | c.1119G>C (p.Leu373=) c.699G>C (p.Leu233=) c.682G>C (p.Glu228Gln) c.583G>C (p.Glu195Gln) c.2106+228169C>G (n.2106+228169C>G) c.687G>C (p.Leu229=) c.991G>C (p.Glu331Gln) | |
| 3 | g.184372876C>T | CA355461909 | EIF2B5,THPO | c.1119G>A (p.Leu373=) c.699G>A (p.Leu233=) c.682G>A (p.Glu228Lys) c.583G>A (p.Glu195Lys) c.2106+228169C>T (n.2106+228169C>T) c.687G>A (p.Leu229=) c.991G>A (p.Glu331Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.184372879_184372881del | CA2734888 | EIF2B5,THPO | c.1117_1119del (p.Leu373del) c.697_699del (p.Leu233del) c.680_682del (p.Ala227del) c.581_583del (p.Ala194del) c.2106+228172_2106+228174del (n.2106+228172_2106+228174del) c.685_687del (p.Leu229del) c.989_991del (p.Ala330del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372877A>C | CA355461910 | EIF2B5,THPO | c.1118T>G (p.Leu373Arg) c.698T>G (p.Leu233Arg) c.681T>G (p.Ala227=) c.582T>G (p.Ala194=) c.2106+228170A>C (n.2106+228170A>C) c.686T>G (p.Leu229Arg) c.990T>G (p.Ala330=) | |
| 3 | g.184372877A>G | CA355461911 | EIF2B5,THPO | c.1118T>C (p.Leu373Pro) c.698T>C (p.Leu233Pro) c.681T>C (p.Ala227=) c.582T>C (p.Ala194=) c.2106+228170A>G (n.2106+228170A>G) c.686T>C (p.Leu229Pro) c.990T>C (p.Ala330=) | gnomAD v4 |
| 3 | g.184372877A>T | CA355461912 | EIF2B5,THPO | c.1118T>A (p.Leu373Gln) c.698T>A (p.Leu233Gln) c.681T>A (p.Ala227=) c.582T>A (p.Ala194=) c.2106+228170A>T (n.2106+228170A>T) c.686T>A (p.Leu229Gln) c.990T>A (p.Ala330=) | |
| 3 | g.184372878G>A | CA355461913 | EIF2B5,THPO | c.1117C>T (p.Leu373=) c.697C>T (p.Leu233=) c.680C>T (p.Ala227Val) c.581C>T (p.Ala194Val) c.2106+228171G>A (n.2106+228171G>A) c.685C>T (p.Leu229=) c.989C>T (p.Ala330Val) | |
| 3 | g.184372878G>C | CA355461914 | EIF2B5,THPO | c.1117C>G (p.Leu373Val) c.697C>G (p.Leu233Val) c.680C>G (p.Ala227Gly) c.581C>G (p.Ala194Gly) c.2106+228171G>C (n.2106+228171G>C) c.685C>G (p.Leu229Val) c.989C>G (p.Ala330Gly) | |
| 3 | g.184372878G>T | CA355461915 | EIF2B5,THPO | c.1117C>A (p.Leu373Met) c.697C>A (p.Leu233Met) c.680C>A (p.Ala227Asp) c.581C>A (p.Ala194Asp) c.2106+228171G>T (n.2106+228171G>T) c.685C>A (p.Leu229Met) c.989C>A (p.Ala330Asp) | |
| 3 | g.184372879C>A | CA2734890 | EIF2B5,THPO | c.1116G>T (p.Leu372=) c.696G>T (p.Leu232=) c.679G>T (p.Ala227Ser) c.580G>T (p.Ala194Ser) c.2106+228172C>A (n.2106+228172C>A) c.684G>T (p.Leu228=) c.988G>T (p.Ala330Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.184372879C= | CA1425997854 | EIF2B5,THPO | c.1116G= (p.Leu372=) c.696G= (p.Leu232=) c.679G= (p.Ala227=) c.580G= (p.Ala194=) c.2106+228172C= (n.2106+228172C=) c.684G= (p.Leu228=) c.988G= (p.Ala330=) | |
| 3 | g.184372879C>G | CA355461916 | EIF2B5,THPO | c.1116G>C (p.Leu372=) c.696G>C (p.Leu232=) c.679G>C (p.Ala227Pro) c.580G>C (p.Ala194Pro) c.2106+228172C>G (n.2106+228172C>G) c.684G>C (p.Leu228=) c.988G>C (p.Ala330Pro) | gnomAD v4 |
| 3 | g.184372879C>T | CA355461917 | EIF2B5,THPO | c.1116G>A (p.Leu372=) c.696G>A (p.Leu232=) c.679G>A (p.Ala227Thr) c.580G>A (p.Ala194Thr) c.2106+228172C>T (n.2106+228172C>T) c.684G>A (p.Leu228=) c.988G>A (p.Ala330Thr) | gnomAD v4 |
| 3 | g.184372880A>C | CA355461919 | EIF2B5,THPO | c.1115T>G (p.Leu372Arg) c.695T>G (p.Leu232Arg) c.678T>G (p.Ser226=) c.579T>G (p.Ser193=) c.2106+228173A>C (n.2106+228173A>C) c.683T>G (p.Leu228Arg) c.987T>G (p.Ser329=) | |
| 3 | g.184372880A>G | CA355461920 | EIF2B5,THPO | c.1115T>C (p.Leu372Pro) c.695T>C (p.Leu232Pro) c.678T>C (p.Ser226=) c.579T>C (p.Ser193=) c.2106+228173A>G (n.2106+228173A>G) c.683T>C (p.Leu228Pro) c.987T>C (p.Ser329=) | |
| 3 | g.184372880A>T | CA355461918 | EIF2B5,THPO | c.1115T>A (p.Leu372Gln) c.695T>A (p.Leu232Gln) c.678T>A (p.Ser226=) c.579T>A (p.Ser193=) c.2106+228173A>T (n.2106+228173A>T) c.683T>A (p.Leu228Gln) c.987T>A (p.Ser329=) | |
| 3 | g.184372881G>A | CA355461921 | EIF2B5,THPO | c.1114C>T (p.Leu372=) c.694C>T (p.Leu232=) c.677C>T (p.Ser226Phe) c.578C>T (p.Ser193Phe) c.2106+228174G>A (n.2106+228174G>A) c.682C>T (p.Leu228=) c.986C>T (p.Ser329Phe) | gnomAD v4 |
| 3 | g.184372881G>C | CA355461923 | EIF2B5,THPO | c.1114C>G (p.Leu372Val) c.694C>G (p.Leu232Val) c.677C>G (p.Ser226Cys) c.578C>G (p.Ser193Cys) c.2106+228174G>C (n.2106+228174G>C) c.682C>G (p.Leu228Val) c.986C>G (p.Ser329Cys) | |
| 3 | g.184372881G>T | CA355461922 | EIF2B5,THPO | c.1114C>A (p.Leu372Met) c.694C>A (p.Leu232Met) c.677C>A (p.Ser226Tyr) c.578C>A (p.Ser193Tyr) c.2106+228174G>T (n.2106+228174G>T) c.682C>A (p.Leu228Met) c.986C>A (p.Ser329Tyr) | |
| 3 | g.184372882A= | CA1425997855 | EIF2B5,THPO | c.1113T= (p.Gly371=) c.693T= (p.Gly231=) c.676T= (p.Ser226=) c.577T= (p.Ser193=) c.2106+228175A= (n.2106+228175A=) c.681T= (p.Gly227=) c.985T= (p.Ser329=) | |
| 3 | g.184372882A>C | CA355461924 | EIF2B5,THPO | c.1113T>G (p.Gly371=) c.693T>G (p.Gly231=) c.676T>G (p.Ser226Ala) c.577T>G (p.Ser193Ala) c.2106+228175A>C (n.2106+228175A>C) c.681T>G (p.Gly227=) c.985T>G (p.Ser329Ala) | |
| 3 | g.184372882A>G | CA355461925 | EIF2B5,THPO | c.1113T>C (p.Gly371=) c.693T>C (p.Gly231=) c.676T>C (p.Ser226Pro) c.577T>C (p.Ser193Pro) c.2106+228175A>G (n.2106+228175A>G) c.681T>C (p.Gly227=) c.985T>C (p.Ser329Pro) | dbSNP gnomAD v2 |
| 3 | g.184372882A>T | CA355461926 | EIF2B5,THPO | c.1113T>A (p.Gly371=) c.693T>A (p.Gly231=) c.676T>A (p.Ser226Thr) c.577T>A (p.Ser193Thr) c.2106+228175A>T (n.2106+228175A>T) c.681T>A (p.Gly227=) c.985T>A (p.Ser329Thr) | |
| 3 | g.184372883C>A | CA355461927 | EIF2B5,THPO | c.1112G>T (p.Gly371Val) c.692G>T (p.Gly231Val) c.675G>T (p.Trp225Cys) c.576G>T (p.Trp192Cys) c.2106+228176C>A (n.2106+228176C>A) c.680G>T (p.Gly227Val) c.984G>T (p.Trp328Cys) | |
| 3 | g.184372883C>G | CA355461928 | EIF2B5,THPO | c.1112G>C (p.Gly371Ala) c.692G>C (p.Gly231Ala) c.675G>C (p.Trp225Cys) c.576G>C (p.Trp192Cys) c.2106+228176C>G (n.2106+228176C>G) c.680G>C (p.Gly227Ala) c.984G>C (p.Trp328Cys) | |
| 3 | g.184372883C>T | CA355461929 | EIF2B5,THPO | c.1112G>A (p.Gly371Asp) c.692G>A (p.Gly231Asp) c.675G>A (p.Trp225Ter) c.576G>A (p.Trp192Ter) c.2106+228176C>T (n.2106+228176C>T) c.680G>A (p.Gly227Asp) c.984G>A (p.Trp328Ter) | |
| 3 | g.184372884C>A | CA355461930 | EIF2B5,THPO | c.1111G>T (p.Gly371Cys) c.691G>T (p.Gly231Cys) c.674G>T (p.Trp225Leu) c.575G>T (p.Trp192Leu) c.2106+228177C>A (n.2106+228177C>A) c.679G>T (p.Gly227Cys) c.983G>T (p.Trp328Leu) | |
| 3 | g.184372884C>G | CA355461931 | EIF2B5,THPO | c.1111G>C (p.Gly371Arg) c.691G>C (p.Gly231Arg) c.674G>C (p.Trp225Ser) c.575G>C (p.Trp192Ser) c.2106+228177C>G (n.2106+228177C>G) c.679G>C (p.Gly227Arg) c.983G>C (p.Trp328Ser) | |
| 3 | g.184372884C>T | CA355461932 | EIF2B5,THPO | c.1111G>A (p.Gly371Ser) c.691G>A (p.Gly231Ser) c.674G>A (p.Trp225Ter) c.575G>A (p.Trp192Ter) c.2106+228177C>T (n.2106+228177C>T) c.679G>A (p.Gly227Ser) c.983G>A (p.Trp328Ter) | |
| 3 | g.184372885A= | CA1425997856 | EIF2B5,THPO | c.1110T= (p.Pro370=) c.690T= (p.Pro230=) c.673T= (p.Trp225=) c.574T= (p.Trp192=) c.2106+228178A= (n.2106+228178A=) c.678T= (p.Pro226=) c.982T= (p.Trp328=) | |
| 3 | g.184372885A>C | CA355461933 | EIF2B5,THPO | c.1110T>G (p.Pro370=) c.690T>G (p.Pro230=) c.673T>G (p.Trp225Gly) c.574T>G (p.Trp192Gly) c.2106+228178A>C (n.2106+228178A>C) c.678T>G (p.Pro226=) c.982T>G (p.Trp328Gly) | |
| 3 | g.184372885A>G | CA2734891 | EIF2B5,THPO | c.1110T>C (p.Pro370=) c.690T>C (p.Pro230=) c.673T>C (p.Trp225Arg) c.574T>C (p.Trp192Arg) c.2106+228178A>G (n.2106+228178A>G) c.678T>C (p.Pro226=) c.982T>C (p.Trp328Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.184372885A>T | CA355461934 | EIF2B5,THPO | c.1110T>A (p.Pro370=) c.690T>A (p.Pro230=) c.673T>A (p.Trp225Arg) c.574T>A (p.Trp192Arg) c.2106+228178A>T (n.2106+228178A>T) c.678T>A (p.Pro226=) c.982T>A (p.Trp328Arg) | |
| 3 | g.184372885_184372886delinsAG | CA1425997857 | EIF2B5,THPO | c.1109_1110delinsCT (p.Pro370=) c.689_690delinsCT (p.Pro230=) c.672_673delinsCT (p.Ser224=) c.573_574delinsCT (p.Ser191=) c.2106+228178_2106+228179delinsAG (n.2106+228178_2106+228179delinsAG) c.677_678delinsCT (p.Pro226=) c.981_982delinsCT (p.Ser327=) | |
| 3 | g.184372886G>A | CA355461935 | EIF2B5,THPO | c.1109C>T (p.Pro370Leu) c.689C>T (p.Pro230Leu) c.672C>T (p.Ser224=) c.573C>T (p.Ser191=) c.2106+228179G>A (n.2106+228179G>A) c.677C>T (p.Pro226Leu) c.981C>T (p.Ser327=) | |
| 3 | g.184372886G>C | CA355461937 | EIF2B5,THPO | c.1109C>G (p.Pro370Arg) c.689C>G (p.Pro230Arg) c.672C>G (p.Ser224=) c.573C>G (p.Ser191=) c.2106+228179G>C (n.2106+228179G>C) c.677C>G (p.Pro226Arg) c.981C>G (p.Ser327=) | |
| 3 | g.184372886G>T | CA355461936 | EIF2B5,THPO | c.1109C>A (p.Pro370His) c.689C>A (p.Pro230His) c.672C>A (p.Ser224=) c.573C>A (p.Ser191=) c.2106+228179G>T (n.2106+228179G>T) c.677C>A (p.Pro226His) c.981C>A (p.Ser327=) | |
| 3 | g.184372887del | CA1425997858 | EIF2B5,THPO | c.1109del (p.Pro370LeufsTer4) c.689del (p.Pro230LeufsTer4) c.672del (p.Trp225GlyfsTer?) c.573del (p.Trp192GlyfsTer?) c.2106+228180del (n.2106+228180del) c.677del (p.Pro226LeufsTer4) c.981del (p.Trp328GlyfsTer?) | dbSNP gnomAD v4 |
| 3 | g.184372887G>A | CA355461938 | EIF2B5,THPO | c.1108C>T (p.Pro370Ser) c.688C>T (p.Pro230Ser) c.671C>T (p.Ser224Phe) c.572C>T (p.Ser191Phe) c.2106+228180G>A (n.2106+228180G>A) c.676C>T (p.Pro226Ser) c.980C>T (p.Ser327Phe) | |
| 3 | g.184372887G>C | CA355461939 | EIF2B5,THPO | c.1108C>G (p.Pro370Ala) c.688C>G (p.Pro230Ala) c.671C>G (p.Ser224Cys) c.572C>G (p.Ser191Cys) c.2106+228180G>C (n.2106+228180G>C) c.676C>G (p.Pro226Ala) c.980C>G (p.Ser327Cys) | |
| 3 | g.184372887G>T | CA355461940 | EIF2B5,THPO | c.1108C>A (p.Pro370Thr) c.688C>A (p.Pro230Thr) c.671C>A (p.Ser224Tyr) c.572C>A (p.Ser191Tyr) c.2106+228180G>T (n.2106+228180G>T) c.676C>A (p.Pro226Thr) c.980C>A (p.Ser327Tyr) | |
| 3 | g.184372888A>C | CA355461941 | EIF2B5,THPO | c.1107T>G (p.Ile369Met) c.687T>G (p.Ile229Met) c.670T>G (p.Ser224Ala) c.571T>G (p.Ser191Ala) c.2106+228181A>C (n.2106+228181A>C) c.675T>G (p.Ile225Met) c.979T>G (p.Ser327Ala) | |
| 3 | g.184372888A>G | CA355461942 | EIF2B5,THPO | c.1107T>C (p.Ile369=) c.687T>C (p.Ile229=) c.670T>C (p.Ser224Pro) c.571T>C (p.Ser191Pro) c.2106+228181A>G (n.2106+228181A>G) c.675T>C (p.Ile225=) c.979T>C (p.Ser327Pro) | |
| 3 | g.184372888A>T | CA355461943 | EIF2B5,THPO | c.1107T>A (p.Ile369=) c.687T>A (p.Ile229=) c.670T>A (p.Ser224Thr) c.571T>A (p.Ser191Thr) c.2106+228181A>T (n.2106+228181A>T) c.675T>A (p.Ile225=) c.979T>A (p.Ser327Thr) | |
| 3 | g.184372889A= | CA1425997859 | EIF2B5,THPO | c.1106T= (p.Ile369=) c.686T= (p.Ile229=) c.669T= (p.Asp223=) c.570T= (p.Asp190=) c.2106+228182A= (n.2106+228182A=) c.674T= (p.Ile225=) c.978T= (p.Asp326=) | |
| 3 | g.184372889A>C | CA355461944 | EIF2B5,THPO | c.1106T>G (p.Ile369Ser) c.686T>G (p.Ile229Ser) c.669T>G (p.Asp223Glu) c.570T>G (p.Asp190Glu) c.2106+228182A>C (n.2106+228182A>C) c.674T>G (p.Ile225Ser) c.978T>G (p.Asp326Glu) | |
| 3 | g.184372889A>G | CA2734892 | EIF2B5,THPO | c.1106T>C (p.Ile369Thr) c.686T>C (p.Ile229Thr) c.669T>C (p.Asp223=) c.570T>C (p.Asp190=) c.2106+228182A>G (n.2106+228182A>G) c.674T>C (p.Ile225Thr) c.978T>C (p.Asp326=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.184372889A>T | CA355461945 | EIF2B5,THPO | c.1106T>A (p.Ile369Asn) c.686T>A (p.Ile229Asn) c.669T>A (p.Asp223Glu) c.570T>A (p.Asp190Glu) c.2106+228182A>T (n.2106+228182A>T) c.674T>A (p.Ile225Asn) c.978T>A (p.Asp326Glu) | |
| 3 | g.184372890T>A | CA355461947 | EIF2B5,THPO | c.1105A>T (p.Ile369Phe) c.685A>T (p.Ile229Phe) c.668A>T (p.Asp223Val) c.569A>T (p.Asp190Val) c.2106+228183T>A (n.2106+228183T>A) c.673A>T (p.Ile225Phe) c.977A>T (p.Asp326Val) | |
| 3 | g.184372890T>C | CA355461948 | EIF2B5,THPO | c.1105A>G (p.Ile369Val) c.685A>G (p.Ile229Val) c.668A>G (p.Asp223Gly) c.569A>G (p.Asp190Gly) c.2106+228183T>C (n.2106+228183T>C) c.673A>G (p.Ile225Val) c.977A>G (p.Asp326Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184372890T>G | CA355461946 | EIF2B5,THPO | c.1105A>C (p.Ile369Leu) c.685A>C (p.Ile229Leu) c.668A>C (p.Asp223Ala) c.569A>C (p.Asp190Ala) c.2106+228183T>G (n.2106+228183T>G) c.673A>C (p.Ile225Leu) c.977A>C (p.Asp326Ala) | |
| 3 | g.184372890T= | CA1425997860 | EIF2B5,THPO | c.1105A= (p.Ile369=) c.685A= (p.Ile229=) c.668A= (p.Asp223=) c.569A= (p.Asp190=) c.2106+228183T= (n.2106+228183T=) c.673A= (p.Ile225=) c.977A= (p.Asp326=) | |
| 3 | g.184372891C>A | CA355461949 | EIF2B5,THPO | c.1104G>T (p.Lys368Asn) c.684G>T (p.Lys228Asn) c.667G>T (p.Asp223Tyr) c.568G>T (p.Asp190Tyr) c.2106+228184C>A (n.2106+228184C>A) c.672G>T (p.Lys224Asn) c.976G>T (p.Asp326Tyr) | COSMIC |
| 3 | g.184372891C= | CA1425997861 | EIF2B5,THPO | c.1104G= (p.Lys368=) c.684G= (p.Lys228=) c.667G= (p.Asp223=) c.568G= (p.Asp190=) c.2106+228184C= (n.2106+228184C=) c.672G= (p.Lys224=) c.976G= (p.Asp326=) | |
| 3 | g.184372891C>G | CA2734893 | EIF2B5,THPO | c.1104G>C (p.Lys368Asn) c.684G>C (p.Lys228Asn) c.667G>C (p.Asp223His) c.568G>C (p.Asp190His) c.2106+228184C>G (n.2106+228184C>G) c.672G>C (p.Lys224Asn) c.976G>C (p.Asp326His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.184372891C>T | CA355461950 | EIF2B5,THPO | c.1104G>A (p.Lys368=) c.684G>A (p.Lys228=) c.667G>A (p.Asp223Asn) c.568G>A (p.Asp190Asn) c.2106+228184C>T (n.2106+228184C>T) c.672G>A (p.Lys224=) c.976G>A (p.Asp326Asn) | |
| 3 | g.184372892T>A | CA355461951 | EIF2B5,THPO | c.1103A>T (p.Lys368Met) c.683A>T (p.Lys228Met) c.666A>T (p.Gln222His) c.567A>T (p.Gln189His) c.2106+228185T>A (n.2106+228185T>A) c.671A>T (p.Lys224Met) c.975A>T (p.Gln325His) | |
| 3 | g.184372892T>C | CA355461952 | EIF2B5,THPO | c.1103A>G (p.Lys368Arg) c.683A>G (p.Lys228Arg) c.666A>G (p.Gln222=) c.567A>G (p.Gln189=) c.2106+228185T>C (n.2106+228185T>C) c.671A>G (p.Lys224Arg) c.975A>G (p.Gln325=) | |
| 3 | g.184372892T>G | CA355461953 | EIF2B5,THPO | c.1103A>C (p.Lys368Thr) c.683A>C (p.Lys228Thr) c.666A>C (p.Gln222His) c.567A>C (p.Gln189His) c.2106+228185T>G (n.2106+228185T>G) c.671A>C (p.Lys224Thr) c.975A>C (p.Gln325His) | |
| 3 | g.184372893T>A | CA355461954 | EIF2B5,THPO | c.1102A>T (p.Lys368Ter) c.682A>T (p.Lys228Ter) c.665A>T (p.Gln222Leu) c.566A>T (p.Gln189Leu) c.2106+228186T>A (n.2106+228186T>A) c.670A>T (p.Lys224Ter) c.974A>T (p.Gln325Leu) | |
| 3 | g.184372893T>C | CA355461955 | EIF2B5,THPO | c.1102A>G (p.Lys368Glu) c.682A>G (p.Lys228Glu) c.665A>G (p.Gln222Arg) c.566A>G (p.Gln189Arg) c.2106+228186T>C (n.2106+228186T>C) c.670A>G (p.Lys224Glu) c.974A>G (p.Gln325Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.184372893T>G | CA355461956 | EIF2B5,THPO | c.1102A>C (p.Lys368Gln) c.682A>C (p.Lys228Gln) c.665A>C (p.Gln222Pro) c.566A>C (p.Gln189Pro) c.2106+228186T>G (n.2106+228186T>G) c.670A>C (p.Lys224Gln) c.974A>C (p.Gln325Pro) | |
| 3 | g.184372893T= | CA1425997862 | EIF2B5,THPO | c.1102A= (p.Lys368=) c.682A= (p.Lys228=) c.665A= (p.Gln222=) c.566A= (p.Gln189=) c.2106+228186T= (n.2106+228186T=) c.670A= (p.Lys224=) c.974A= (p.Gln325=) | |
| 3 | g.184372894G>A | CA355461957 | EIF2B5,THPO | c.1101C>T (p.Ala367=) c.681C>T (p.Ala227=) c.664C>T (p.Gln222Ter) c.565C>T (p.Gln189Ter) c.2106+228187G>A (n.2106+228187G>A) c.669C>T (p.Ala223=) c.973C>T (p.Gln325Ter) | |
| 3 | g.184372894G>C | CA355461958 | EIF2B5,THPO | c.1101C>G (p.Ala367=) c.681C>G (p.Ala227=) c.664C>G (p.Gln222Glu) c.565C>G (p.Gln189Glu) c.2106+228187G>C (n.2106+228187G>C) c.669C>G (p.Ala223=) c.973C>G (p.Gln325Glu) | |
| 3 | g.184372894G>T | CA355461959 | EIF2B5,THPO | c.1101C>A (p.Ala367=) c.681C>A (p.Ala227=) c.664C>A (p.Gln222Lys) c.565C>A (p.Gln189Lys) c.2106+228187G>T (n.2106+228187G>T) c.669C>A (p.Ala223=) c.973C>A (p.Gln325Lys) | |
| 3 | g.184372895G>A | CA2734894 | EIF2B5,THPO | c.1100C>T (p.Ala367Val) c.680C>T (p.Ala227Val) c.663C>T (p.Ser221=) c.564C>T (p.Ser188=) c.2106+228188G>A (n.2106+228188G>A) c.668C>T (p.Ala223Val) c.972C>T (p.Ser324=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184372895G>C | CA355461960 | EIF2B5,THPO | c.1100C>G (p.Ala367Gly) c.680C>G (p.Ala227Gly) c.663C>G (p.Ser221Arg) c.564C>G (p.Ser188Arg) c.2106+228188G>C (n.2106+228188G>C) c.668C>G (p.Ala223Gly) c.972C>G (p.Ser324Arg) | |
| 3 | g.184372895G= | CA1425997863 | EIF2B5,THPO | c.1100C= (p.Ala367=) c.680C= (p.Ala227=) c.663C= (p.Ser221=) c.564C= (p.Ser188=) c.2106+228188G= (n.2106+228188G=) c.668C= (p.Ala223=) c.972C= (p.Ser324=) | |
| 3 | g.184372895G>T | CA355461961 | EIF2B5,THPO | c.1100C>A (p.Ala367Asp) c.680C>A (p.Ala227Asp) c.663C>A (p.Ser221Arg) c.564C>A (p.Ser188Arg) c.2106+228188G>T (n.2106+228188G>T) c.668C>A (p.Ala223Asp) c.972C>A (p.Ser324Arg) | dbSNP |
| 3 | g.184372896C>A | CA355461962 | EIF2B5,THPO | c.1099G>T (p.Ala367Ser) c.679G>T (p.Ala227Ser) c.662G>T (p.Ser221Ile) c.563G>T (p.Ser188Ile) c.2106+228189C>A (n.2106+228189C>A) c.667G>T (p.Ala223Ser) c.971G>T (p.Ser324Ile) | |
| 3 | g.184372896C= | CA1425997864 | EIF2B5,THPO | c.1099G= (p.Ala367=) c.679G= (p.Ala227=) c.662G= (p.Ser221=) c.563G= (p.Ser188=) c.2106+228189C= (n.2106+228189C=) c.667G= (p.Ala223=) c.971G= (p.Ser324=) | |
| 3 | g.184372896C>G | CA355461963 | EIF2B5,THPO | c.1099G>C (p.Ala367Pro) c.679G>C (p.Ala227Pro) c.662G>C (p.Ser221Thr) c.563G>C (p.Ser188Thr) c.2106+228189C>G (n.2106+228189C>G) c.667G>C (p.Ala223Pro) c.971G>C (p.Ser324Thr) | |
| 3 | g.184372896C>T | CA88912353 | EIF2B5,THPO | c.1099G>A (p.Ala367Thr) c.679G>A (p.Ala227Thr) c.662G>A (p.Ser221Asn) c.563G>A (p.Ser188Asn) c.2106+228189C>T (n.2106+228189C>T) c.667G>A (p.Ala223Thr) c.971G>A (p.Ser324Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184372897T>A | CA355461964 | EIF2B5,THPO | c.1098A>T (p.Arg366Ser) c.678A>T (p.Arg226Ser) c.661A>T (p.Ser221Cys) c.562A>T (p.Ser188Cys) c.2106+228190T>A (n.2106+228190T>A) c.666A>T (p.Arg222Ser) c.970A>T (p.Ser324Cys) | |
| 3 | g.184372897T>C | CA355461965 | EIF2B5,THPO | c.1098A>G (p.Arg366=) c.678A>G (p.Arg226=) c.661A>G (p.Ser221Gly) c.562A>G (p.Ser188Gly) c.2106+228190T>C (n.2106+228190T>C) c.666A>G (p.Arg222=) c.970A>G (p.Ser324Gly) | gnomAD v4 |
| 3 | g.184372897T>G | CA355461966 | EIF2B5,THPO | c.1098A>C (p.Arg366Ser) c.678A>C (p.Arg226Ser) c.661A>C (p.Ser221Arg) c.562A>C (p.Ser188Arg) c.2106+228190T>G (n.2106+228190T>G) c.666A>C (p.Arg222Ser) c.970A>C (p.Ser324Arg) | |
| 3 | g.184372898C>A | CA355461967 | EIF2B5,THPO | c.1097G>T (p.Arg366Ile) c.677G>T (p.Arg226Ile) c.660G>T (p.Gln220His) c.561G>T (p.Gln187His) c.2106+228191C>A (n.2106+228191C>A) c.665G>T (p.Arg222Ile) n.248G>T c.969G>T (p.Gln323His) | |
| 3 | g.184372898C= | CA1425997865 | EIF2B5,THPO | c.1097G= (p.Arg366=) c.677G= (p.Arg226=) c.660G= (p.Gln220=) c.561G= (p.Gln187=) c.2106+228191C= (n.2106+228191C=) c.665G= (p.Arg222=) n.248G= c.969G= (p.Gln323=) | |
| 3 | g.184372898C>G | CA355461968 | EIF2B5,THPO | c.1097G>C (p.Arg366Thr) c.677G>C (p.Arg226Thr) c.660G>C (p.Gln220His) c.561G>C (p.Gln187His) c.2106+228191C>G (n.2106+228191C>G) c.665G>C (p.Arg222Thr) n.248G>C c.969G>C (p.Gln323His) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.184372898C>T | CA88912354 | EIF2B5,THPO | c.1097G>A (p.Arg366Lys) c.677G>A (p.Arg226Lys) c.660G>A (p.Gln220=) c.561G>A (p.Gln187=) c.2106+228191C>T (n.2106+228191C>T) c.665G>A (p.Arg222Lys) n.248G>A c.969G>A (p.Gln323=) | dbSNP |