Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
3 | g.184372899T>A | CA355461969 | EIF2B5,THPO | c.1096A>T (p.Arg366Ter) c.676A>T (p.Arg226Ter) c.659A>T (p.Gln220Leu) c.560A>T (p.Gln187Leu) c.2106+228192T>A (n.2106+228192T>A) c.664A>T (p.Arg222Ter) n.247A>T c.968A>T (p.Gln323Leu) | |
3 | g.184372899T>C | CA2734895 | EIF2B5,THPO | c.1096A>G (p.Arg366Gly) c.676A>G (p.Arg226Gly) c.659A>G (p.Gln220Arg) c.560A>G (p.Gln187Arg) c.2106+228192T>C (n.2106+228192T>C) c.664A>G (p.Arg222Gly) n.247A>G c.968A>G (p.Gln323Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.184372899T>G | CA355461970 | EIF2B5,THPO | c.1096A>C (p.Arg366=) c.676A>C (p.Arg226=) c.659A>C (p.Gln220Pro) c.560A>C (p.Gln187Pro) c.2106+228192T>G (n.2106+228192T>G) c.664A>C (p.Arg222=) n.247A>C c.968A>C (p.Gln323Pro) | gnomAD v4 |
3 | g.184372899T= | CA1425997866 | EIF2B5,THPO | c.1096A= (p.Arg366=) c.676A= (p.Arg226=) c.659A= (p.Gln220=) c.560A= (p.Gln187=) c.2106+228192T= (n.2106+228192T=) c.664A= (p.Arg222=) n.247A= c.968A= (p.Gln323=) | |
3 | g.184372900G>A | CA355461973 | EIF2B5,THPO | c.1095C>T (p.Phe365=) c.675C>T (p.Phe225=) c.658C>T (p.Gln220Ter) c.559C>T (p.Gln187Ter) c.2106+228193G>A (n.2106+228193G>A) c.663C>T (p.Phe221=) n.246C>T c.967C>T (p.Gln323Ter) | |
3 | g.184372900G>C | CA355461972 | EIF2B5,THPO | c.1095C>G (p.Phe365Leu) c.675C>G (p.Phe225Leu) c.658C>G (p.Gln220Glu) c.559C>G (p.Gln187Glu) c.2106+228193G>C (n.2106+228193G>C) c.663C>G (p.Phe221Leu) n.246C>G c.967C>G (p.Gln323Glu) | |
3 | g.184372900G>T | CA355461971 | EIF2B5,THPO | c.1095C>A (p.Phe365Leu) c.675C>A (p.Phe225Leu) c.658C>A (p.Gln220Lys) c.559C>A (p.Gln187Lys) c.2106+228193G>T (n.2106+228193G>T) c.663C>A (p.Phe221Leu) n.246C>A c.967C>A (p.Gln323Lys) | |
3 | g.184372901A>C | CA355461974 | EIF2B5,THPO | c.1094T>G (p.Phe365Cys) c.674T>G (p.Phe225Cys) c.657T>G (p.Ile219Met) c.558T>G (p.Ile186Met) c.2106+228194A>C (n.2106+228194A>C) c.662T>G (p.Phe221Cys) n.245T>G c.966T>G (p.Ile322Met) | |
3 | g.184372901A>G | CA355461976 | EIF2B5,THPO | c.1094T>C (p.Phe365Ser) c.674T>C (p.Phe225Ser) c.657T>C (p.Ile219=) c.558T>C (p.Ile186=) c.2106+228194A>G (n.2106+228194A>G) c.662T>C (p.Phe221Ser) n.245T>C c.966T>C (p.Ile322=) | |
3 | g.184372901A>T | CA355461975 | EIF2B5,THPO | c.1094T>A (p.Phe365Tyr) c.674T>A (p.Phe225Tyr) c.657T>A (p.Ile219=) c.558T>A (p.Ile186=) c.2106+228194A>T (n.2106+228194A>T) c.662T>A (p.Phe221Tyr) n.245T>A c.966T>A (p.Ile322=) | |
3 | g.184372902del | CA2668833286 | EIF2B5,THPO | c.1094del (p.Phe365SerfsTer9) c.674del (p.Phe225SerfsTer9) c.657del (p.Gln220ArgfsTer?) c.558del (p.Gln187ArgfsTer?) c.2106+228195del (n.2106+228195del) c.662del (p.Phe221SerfsTer9) n.245del c.966del (p.Gln323ArgfsTer?) | gnomAD v4 |
3 | g.184372902A= | CA1425997867 | EIF2B5,THPO | c.1093T= (p.Phe365=) c.673T= (p.Phe225=) c.656T= (p.Ile219=) c.557T= (p.Ile186=) c.2106+228195A= (n.2106+228195A=) c.661T= (p.Phe221=) n.244T= c.965T= (p.Ile322=) | |
3 | g.184372902A>C | CA355461977 | EIF2B5,THPO | c.1093T>G (p.Phe365Val) c.673T>G (p.Phe225Val) c.656T>G (p.Ile219Ser) c.557T>G (p.Ile186Ser) c.2106+228195A>C (n.2106+228195A>C) c.661T>G (p.Phe221Val) n.244T>G c.965T>G (p.Ile322Ser) | |
3 | g.184372902A>G | CA355461979 | EIF2B5,THPO | c.1093T>C (p.Phe365Leu) c.673T>C (p.Phe225Leu) c.656T>C (p.Ile219Thr) c.557T>C (p.Ile186Thr) c.2106+228195A>G (n.2106+228195A>G) c.661T>C (p.Phe221Leu) n.244T>C c.965T>C (p.Ile322Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.184372902A>T | CA355461978 | EIF2B5,THPO | c.1093T>A (p.Phe365Ile) c.673T>A (p.Phe225Ile) c.656T>A (p.Ile219Asn) c.557T>A (p.Ile186Asn) c.2106+228195A>T (n.2106+228195A>T) c.661T>A (p.Phe221Ile) n.244T>A c.965T>A (p.Ile322Asn) | |
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) |