Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.27366782_27367008del | CA2697547926 | EIF2B4,GTF3C2-AS2 | c.1013+67_1169del c.*279+67_*435del c.588-71_743del c.1010+67_1166del c.1073+67_1229del n.2844_3070del c.1076+67_1232del c.1004+67_1160del c.968+67_1124del c.965+67_1121del c.395+67_551del n.1772-642_1772-416del c.920+67_1076del c.428+67_584del | ClinVar |
2 | g.27366833G>A | CA425606607 | EIF2B4,GTF3C2-AS2 | c.1117C>T (p.Leu373=) c.*383C>T (n.*383C>T) c.691C>T c.1114C>T (p.Leu372=) c.1177C>T (p.Leu393=) n.3018C>T c.1180C>T (p.Leu394=) c.1108C>T (p.Leu370=) c.1072C>T (p.Leu358=) c.1069C>T (p.Leu357=) c.499C>T (p.Leu167=) n.1772-591G>A c.1024C>T (p.Leu342=) c.532C>T (p.Leu178=) | ClinVar |
2 | g.27366833G>C | CA346197892 | EIF2B4,GTF3C2-AS2 | c.1117C>G (p.Leu373Val) c.*383C>G (n.*383C>G) c.691C>G c.1114C>G (p.Leu372Val) c.1177C>G (p.Leu393Val) n.3018C>G c.1180C>G (p.Leu394Val) c.1108C>G (p.Leu370Val) c.1072C>G (p.Leu358Val) c.1069C>G (p.Leu357Val) c.499C>G (p.Leu167Val) n.1772-591G>C c.1024C>G (p.Leu342Val) c.532C>G (p.Leu178Val) | |
2 | g.27366833G>T | CA346197895 | EIF2B4,GTF3C2-AS2 | c.1117C>A (p.Leu373Ile) c.*383C>A (n.*383C>A) c.691C>A c.1114C>A (p.Leu372Ile) c.1177C>A (p.Leu393Ile) n.3018C>A c.1180C>A (p.Leu394Ile) c.1108C>A (p.Leu370Ile) c.1072C>A (p.Leu358Ile) c.1069C>A (p.Leu357Ile) c.499C>A (p.Leu167Ile) n.1772-591G>T c.1024C>A (p.Leu342Ile) c.532C>A (p.Leu178Ile) | |
2 | g.27366834T>A | CA425606608 | EIF2B4,GTF3C2-AS2 | c.1116A>T (p.Thr372=) c.*382A>T (n.*382A>T) c.690A>T c.1113A>T (p.Thr371=) c.1176A>T (p.Thr392=) n.3017A>T c.1179A>T (p.Thr393=) c.1107A>T (p.Thr369=) c.1071A>T (p.Thr357=) c.1068A>T (p.Thr356=) c.498A>T (p.Thr166=) n.1772-590T>A c.1023A>T (p.Thr341=) c.531A>T (p.Thr177=) | |
2 | g.27366834T>C | CA1576652 | EIF2B4,GTF3C2-AS2 | c.1116A>G (p.Thr372=) c.*382A>G (n.*382A>G) c.690A>G c.1113A>G (p.Thr371=) c.1176A>G (p.Thr392=) n.3017A>G c.1179A>G (p.Thr393=) c.1107A>G (p.Thr369=) c.1071A>G (p.Thr357=) c.1068A>G (p.Thr356=) c.498A>G (p.Thr166=) n.1772-590T>C c.1023A>G (p.Thr341=) c.531A>G (p.Thr177=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27366834T>G | CA425606612 | EIF2B4,GTF3C2-AS2 | c.1116A>C (p.Thr372=) c.*382A>C (n.*382A>C) c.690A>C c.1113A>C (p.Thr371=) c.1176A>C (p.Thr392=) n.3017A>C c.1179A>C (p.Thr393=) c.1107A>C (p.Thr369=) c.1071A>C (p.Thr357=) c.1068A>C (p.Thr356=) c.498A>C (p.Thr166=) n.1772-590T>G c.1023A>C (p.Thr341=) c.531A>C (p.Thr177=) | dbSNP |
2 | g.27366834T= | CA1240244447 | EIF2B4,GTF3C2-AS2 | c.1116A= (p.Thr372=) c.*382A= (n.*382A=) c.690A= c.1113A= (p.Thr371=) c.1176A= (p.Thr392=) n.3017A= c.1179A= (p.Thr393=) c.1107A= (p.Thr369=) c.1071A= (p.Thr357=) c.1068A= (p.Thr356=) c.498A= (p.Thr166=) n.1772-590T= c.1023A= (p.Thr341=) c.531A= (p.Thr177=) | |
2 | g.27366835G>A | CA346197900 | EIF2B4,GTF3C2-AS2 | c.1115C>T (p.Thr372Ile) c.*381C>T (n.*381C>T) c.689C>T c.1112C>T (p.Thr371Ile) c.1175C>T (p.Thr392Ile) n.3016C>T c.1178C>T (p.Thr393Ile) c.1106C>T (p.Thr369Ile) c.1070C>T (p.Thr357Ile) c.1067C>T (p.Thr356Ile) c.497C>T (p.Thr166Ile) n.1772-589G>A c.1022C>T (p.Thr341Ile) c.530C>T (p.Thr177Ile) | gnomAD v4 |
2 | g.27366835G>C | CA346197902 | EIF2B4,GTF3C2-AS2 | c.1115C>G (p.Thr372Arg) c.*381C>G (n.*381C>G) c.689C>G c.1112C>G (p.Thr371Arg) c.1175C>G (p.Thr392Arg) n.3016C>G c.1178C>G (p.Thr393Arg) c.1106C>G (p.Thr369Arg) c.1070C>G (p.Thr357Arg) c.1067C>G (p.Thr356Arg) c.497C>G (p.Thr166Arg) n.1772-589G>C c.1022C>G (p.Thr341Arg) c.530C>G (p.Thr177Arg) | |
2 | g.27366835G>T | CA346197898 | EIF2B4,GTF3C2-AS2 | c.1115C>A (p.Thr372Lys) c.*381C>A (n.*381C>A) c.689C>A c.1112C>A (p.Thr371Lys) c.1175C>A (p.Thr392Lys) n.3016C>A c.1178C>A (p.Thr393Lys) c.1106C>A (p.Thr369Lys) c.1070C>A (p.Thr357Lys) c.1067C>A (p.Thr356Lys) c.497C>A (p.Thr166Lys) n.1772-589G>T c.1022C>A (p.Thr341Lys) c.530C>A (p.Thr177Lys) | |
2 | g.27366836T>A | CA346197904 | EIF2B4,GTF3C2-AS2 | c.1114A>T (p.Thr372Ser) c.*380A>T (n.*380A>T) c.688A>T c.1111A>T (p.Thr371Ser) c.1174A>T (p.Thr392Ser) n.3015A>T c.1177A>T (p.Thr393Ser) c.1105A>T (p.Thr369Ser) c.1069A>T (p.Thr357Ser) c.1066A>T (p.Thr356Ser) c.496A>T (p.Thr166Ser) n.1772-588T>A c.1021A>T (p.Thr341Ser) c.529A>T (p.Thr177Ser) | |
2 | g.27366836T>C | CA346197905 | EIF2B4,GTF3C2-AS2 | c.1114A>G (p.Thr372Ala) c.*380A>G (n.*380A>G) c.688A>G c.1111A>G (p.Thr371Ala) c.1174A>G (p.Thr392Ala) n.3015A>G c.1177A>G (p.Thr393Ala) c.1105A>G (p.Thr369Ala) c.1069A>G (p.Thr357Ala) c.1066A>G (p.Thr356Ala) c.496A>G (p.Thr166Ala) n.1772-588T>C c.1021A>G (p.Thr341Ala) c.529A>G (p.Thr177Ala) | dbSNP gnomAD v4 |
2 | g.27366836T>G | CA346197907 | EIF2B4,GTF3C2-AS2 | c.1114A>C (p.Thr372Pro) c.*380A>C (n.*380A>C) c.688A>C c.1111A>C (p.Thr371Pro) c.1174A>C (p.Thr392Pro) n.3015A>C c.1177A>C (p.Thr393Pro) c.1105A>C (p.Thr369Pro) c.1069A>C (p.Thr357Pro) c.1066A>C (p.Thr356Pro) c.496A>C (p.Thr166Pro) n.1772-588T>G c.1021A>C (p.Thr341Pro) c.529A>C (p.Thr177Pro) | |
2 | g.27366836T= | CA1240244449 | EIF2B4,GTF3C2-AS2 | c.1114A= (p.Thr372=) c.*380A= (n.*380A=) c.688A= c.1111A= (p.Thr371=) c.1174A= (p.Thr392=) n.3015A= c.1177A= (p.Thr393=) c.1105A= (p.Thr369=) c.1069A= (p.Thr357=) c.1066A= (p.Thr356=) c.496A= (p.Thr166=) n.1772-588T= c.1021A= (p.Thr341=) c.529A= (p.Thr177=) | |
2 | g.27366837G>A | CA425606618 | EIF2B4,GTF3C2-AS2 | c.1113C>T (p.His371=) c.*379C>T (n.*379C>T) c.687C>T c.1110C>T (p.His370=) c.1173C>T (p.His391=) n.3014C>T c.1176C>T (p.His392=) c.1104C>T (p.His368=) c.1068C>T (p.His356=) c.1065C>T (p.His355=) c.495C>T (p.His165=) n.1772-587G>A c.1020C>T (p.His340=) c.528C>T (p.His176=) | |
2 | g.27366837G>C | CA346197909 | EIF2B4,GTF3C2-AS2 | c.1113C>G (p.His371Gln) c.*379C>G (n.*379C>G) c.687C>G c.1110C>G (p.His370Gln) c.1173C>G (p.His391Gln) n.3014C>G c.1176C>G (p.His392Gln) c.1104C>G (p.His368Gln) c.1068C>G (p.His356Gln) c.1065C>G (p.His355Gln) c.495C>G (p.His165Gln) n.1772-587G>C c.1020C>G (p.His340Gln) c.528C>G (p.His176Gln) | gnomAD v4 |
2 | g.27366837G>T | CA346197910 | EIF2B4,GTF3C2-AS2 | c.1113C>A (p.His371Gln) c.*379C>A (n.*379C>A) c.687C>A c.1110C>A (p.His370Gln) c.1173C>A (p.His391Gln) n.3014C>A c.1176C>A (p.His392Gln) c.1104C>A (p.His368Gln) c.1068C>A (p.His356Gln) c.1065C>A (p.His355Gln) c.495C>A (p.His165Gln) n.1772-587G>T c.1020C>A (p.His340Gln) c.528C>A (p.His176Gln) | |
2 | g.27366838T>A | CA346197913 | EIF2B4,GTF3C2-AS2 | c.1112A>T (p.His371Leu) c.*378A>T (n.*378A>T) c.686A>T c.1109A>T (p.His370Leu) c.1172A>T (p.His391Leu) n.3013A>T c.1175A>T (p.His392Leu) c.1103A>T (p.His368Leu) c.1067A>T (p.His356Leu) c.1064A>T (p.His355Leu) c.494A>T (p.His165Leu) n.1772-586T>A c.1019A>T (p.His340Leu) c.527A>T (p.His176Leu) | |
2 | g.27366838T>C | CA346197915 | EIF2B4,GTF3C2-AS2 | c.1112A>G (p.His371Arg) c.*378A>G (n.*378A>G) c.686A>G c.1109A>G (p.His370Arg) c.1172A>G (p.His391Arg) n.3013A>G c.1175A>G (p.His392Arg) c.1103A>G (p.His368Arg) c.1067A>G (p.His356Arg) c.1064A>G (p.His355Arg) c.494A>G (p.His165Arg) n.1772-586T>C c.1019A>G (p.His340Arg) c.527A>G (p.His176Arg) | gnomAD v4 |
2 | g.27366838T>G | CA346197916 | EIF2B4,GTF3C2-AS2 | c.1112A>C (p.His371Pro) c.*378A>C (n.*378A>C) c.686A>C c.1109A>C (p.His370Pro) c.1172A>C (p.His391Pro) n.3013A>C c.1175A>C (p.His392Pro) c.1103A>C (p.His368Pro) c.1067A>C (p.His356Pro) c.1064A>C (p.His355Pro) c.494A>C (p.His165Pro) n.1772-586T>G c.1019A>C (p.His340Pro) c.527A>C (p.His176Pro) | gnomAD v4 |
2 | g.27366839G>A | CA1576653 | EIF2B4,GTF3C2-AS2 | c.1111C>T (p.His371Tyr) c.*377C>T (n.*377C>T) c.685C>T c.1108C>T (p.His370Tyr) c.1171C>T (p.His391Tyr) n.3012C>T c.1174C>T (p.His392Tyr) c.1102C>T (p.His368Tyr) c.1066C>T (p.His356Tyr) c.1063C>T (p.His355Tyr) c.493C>T (p.His165Tyr) n.1772-585G>A c.1018C>T (p.His340Tyr) c.526C>T (p.His176Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27366839G>C | CA346197918 | EIF2B4,GTF3C2-AS2 | c.1111C>G (p.His371Asp) c.*377C>G (n.*377C>G) c.685C>G c.1108C>G (p.His370Asp) c.1171C>G (p.His391Asp) n.3012C>G c.1174C>G (p.His392Asp) c.1102C>G (p.His368Asp) c.1066C>G (p.His356Asp) c.1063C>G (p.His355Asp) c.493C>G (p.His165Asp) n.1772-585G>C c.1018C>G (p.His340Asp) c.526C>G (p.His176Asp) | |
2 | g.27366839G= | CA1240244452 | EIF2B4,GTF3C2-AS2 | c.1111C= (p.His371=) c.*377C= (n.*377C=) c.685C= c.1108C= (p.His370=) c.1171C= (p.His391=) n.3012C= c.1174C= (p.His392=) c.1102C= (p.His368=) c.1066C= (p.His356=) c.1063C= (p.His355=) c.493C= (p.His165=) n.1772-585G= c.1018C= (p.His340=) c.526C= (p.His176=) | |
2 | g.27366839G>T | CA346197919 | EIF2B4,GTF3C2-AS2 | c.1111C>A (p.His371Asn) c.*377C>A (n.*377C>A) c.685C>A c.1108C>A (p.His370Asn) c.1171C>A (p.His391Asn) n.3012C>A c.1174C>A (p.His392Asn) c.1102C>A (p.His368Asn) c.1066C>A (p.His356Asn) c.1063C>A (p.His355Asn) c.493C>A (p.His165Asn) n.1772-585G>T c.1018C>A (p.His340Asn) c.526C>A (p.His176Asn) | |
2 | g.27366840C>A | CA346197921 | EIF2B4,GTF3C2-AS2 | c.1110G>T (p.Arg370Ser) c.*376G>T (n.*376G>T) c.684G>T c.1107G>T (p.Arg369Ser) c.1170G>T (p.Arg390Ser) n.3011G>T c.1173G>T (p.Arg391Ser) c.1101G>T (p.Arg367Ser) c.1065G>T (p.Arg355Ser) c.1062G>T (p.Arg354Ser) c.492G>T (p.Arg164Ser) n.1772-584C>A c.1017G>T (p.Arg339Ser) c.525G>T (p.Arg175Ser) | |
2 | g.27366840C>G | CA346197922 | EIF2B4,GTF3C2-AS2 | c.1110G>C (p.Arg370Ser) c.*376G>C (n.*376G>C) c.684G>C c.1107G>C (p.Arg369Ser) c.1170G>C (p.Arg390Ser) n.3011G>C c.1173G>C (p.Arg391Ser) c.1101G>C (p.Arg367Ser) c.1065G>C (p.Arg355Ser) c.1062G>C (p.Arg354Ser) c.492G>C (p.Arg164Ser) n.1772-584C>G c.1017G>C (p.Arg339Ser) c.525G>C (p.Arg175Ser) | |
2 | g.27366840C>T | CA425606627 | EIF2B4,GTF3C2-AS2 | c.1110G>A (p.Arg370=) c.*376G>A (n.*376G>A) c.684G>A c.1107G>A (p.Arg369=) c.1170G>A (p.Arg390=) n.3011G>A c.1173G>A (p.Arg391=) c.1101G>A (p.Arg367=) c.1065G>A (p.Arg355=) c.1062G>A (p.Arg354=) c.492G>A (p.Arg164=) n.1772-584C>T c.1017G>A (p.Arg339=) c.525G>A (p.Arg175=) | |
2 | g.27366841C>A | CA346197926 | EIF2B4,GTF3C2-AS2 | c.1109G>T (p.Arg370Met) c.*375G>T (n.*375G>T) c.683G>T c.1106G>T (p.Arg369Met) c.1169G>T (p.Arg390Met) n.3010G>T c.1172G>T (p.Arg391Met) c.1100G>T (p.Arg367Met) c.1064G>T (p.Arg355Met) c.1061G>T (p.Arg354Met) c.491G>T (p.Arg164Met) n.1772-583C>A c.1016G>T (p.Arg339Met) c.524G>T (p.Arg175Met) | |
2 | g.27366841C= | CA1240244459 | EIF2B4,GTF3C2-AS2 | c.1109G= (p.Arg370=) c.*375G= (n.*375G=) c.683G= c.1106G= (p.Arg369=) c.1169G= (p.Arg390=) n.3010G= c.1172G= (p.Arg391=) c.1100G= (p.Arg367=) c.1064G= (p.Arg355=) c.1061G= (p.Arg354=) c.491G= (p.Arg164=) n.1772-583C= c.1016G= (p.Arg339=) c.524G= (p.Arg175=) | |
2 | g.27366841C>G | CA346197928 | EIF2B4,GTF3C2-AS2 | c.1109G>C (p.Arg370Thr) c.*375G>C (n.*375G>C) c.683G>C c.1106G>C (p.Arg369Thr) c.1169G>C (p.Arg390Thr) n.3010G>C c.1172G>C (p.Arg391Thr) c.1100G>C (p.Arg367Thr) c.1064G>C (p.Arg355Thr) c.1061G>C (p.Arg354Thr) c.491G>C (p.Arg164Thr) n.1772-583C>G c.1016G>C (p.Arg339Thr) c.524G>C (p.Arg175Thr) | |
2 | g.27366841C>T | CA346197925 | EIF2B4,GTF3C2-AS2 | c.1109G>A (p.Arg370Lys) c.*375G>A (n.*375G>A) c.683G>A c.1106G>A (p.Arg369Lys) c.1169G>A (p.Arg390Lys) n.3010G>A c.1172G>A (p.Arg391Lys) c.1100G>A (p.Arg367Lys) c.1064G>A (p.Arg355Lys) c.1061G>A (p.Arg354Lys) c.491G>A (p.Arg164Lys) n.1772-583C>T c.1016G>A (p.Arg339Lys) c.524G>A (p.Arg175Lys) | dbSNP |
2 | g.27366842T>A | CA346197929 | EIF2B4,GTF3C2-AS2 | c.1108A>T (p.Arg370Trp) c.*374A>T (n.*374A>T) c.682A>T c.1105A>T (p.Arg369Trp) c.1168A>T (p.Arg390Trp) n.3009A>T c.1171A>T (p.Arg391Trp) c.1099A>T (p.Arg367Trp) c.1063A>T (p.Arg355Trp) c.1060A>T (p.Arg354Trp) c.490A>T (p.Arg164Trp) n.1772-582T>A c.1015A>T (p.Arg339Trp) c.523A>T (p.Arg175Trp) | |
2 | g.27366842T>C | CA346197930 | EIF2B4,GTF3C2-AS2 | c.1108A>G (p.Arg370Gly) c.*374A>G (n.*374A>G) c.682A>G c.1105A>G (p.Arg369Gly) c.1168A>G (p.Arg390Gly) n.3009A>G c.1171A>G (p.Arg391Gly) c.1099A>G (p.Arg367Gly) c.1063A>G (p.Arg355Gly) c.1060A>G (p.Arg354Gly) c.490A>G (p.Arg164Gly) n.1772-582T>C c.1015A>G (p.Arg339Gly) c.523A>G (p.Arg175Gly) | |
2 | g.27366842T>G | CA425606636 | EIF2B4,GTF3C2-AS2 | c.1108A>C (p.Arg370=) c.*374A>C (n.*374A>C) c.682A>C c.1105A>C (p.Arg369=) c.1168A>C (p.Arg390=) n.3009A>C c.1171A>C (p.Arg391=) c.1099A>C (p.Arg367=) c.1063A>C (p.Arg355=) c.1060A>C (p.Arg354=) c.490A>C (p.Arg164=) n.1772-582T>G c.1015A>C (p.Arg339=) c.523A>C (p.Arg175=) | |
2 | g.27366843T>A | CA425606637 | EIF2B4,GTF3C2-AS2 | c.1107A>T (p.Gly369=) c.*373A>T (n.*373A>T) c.681A>T c.1104A>T (p.Gly368=) c.1167A>T (p.Gly389=) n.3008A>T c.1170A>T (p.Gly390=) c.1098A>T (p.Gly366=) c.1062A>T (p.Gly354=) c.1059A>T (p.Gly353=) c.489A>T (p.Gly163=) n.1772-581T>A c.1014A>T (p.Gly338=) c.522A>T (p.Gly174=) | |
2 | g.27366843T>C | CA425606638 | EIF2B4,GTF3C2-AS2 | c.1107A>G (p.Gly369=) c.*373A>G (n.*373A>G) c.681A>G c.1104A>G (p.Gly368=) c.1167A>G (p.Gly389=) n.3008A>G c.1170A>G (p.Gly390=) c.1098A>G (p.Gly366=) c.1062A>G (p.Gly354=) c.1059A>G (p.Gly353=) c.489A>G (p.Gly163=) n.1772-581T>C c.1014A>G (p.Gly338=) c.522A>G (p.Gly174=) | dbSNP gnomAD v4 |
2 | g.27366843T>G | CA425606639 | EIF2B4,GTF3C2-AS2 | c.1107A>C (p.Gly369=) c.*373A>C (n.*373A>C) c.681A>C c.1104A>C (p.Gly368=) c.1167A>C (p.Gly389=) n.3008A>C c.1170A>C (p.Gly390=) c.1098A>C (p.Gly366=) c.1062A>C (p.Gly354=) c.1059A>C (p.Gly353=) c.489A>C (p.Gly163=) n.1772-581T>G c.1014A>C (p.Gly338=) c.522A>C (p.Gly174=) | dbSNP gnomAD v4 |
2 | g.27366843T= | CA1240244462 | EIF2B4,GTF3C2-AS2 | c.1107A= (p.Gly369=) c.*373A= (n.*373A=) c.681A= c.1104A= (p.Gly368=) c.1167A= (p.Gly389=) n.3008A= c.1170A= (p.Gly390=) c.1098A= (p.Gly366=) c.1062A= (p.Gly354=) c.1059A= (p.Gly353=) c.489A= (p.Gly163=) n.1772-581T= c.1014A= (p.Gly338=) c.522A= (p.Gly174=) | |
2 | g.27366844C>A | CA346197931 | EIF2B4,GTF3C2-AS2 | c.1106G>T (p.Gly369Val) c.*372G>T (n.*372G>T) c.680G>T c.1103G>T (p.Gly368Val) c.1166G>T (p.Gly389Val) n.3007G>T c.1169G>T (p.Gly390Val) c.1097G>T (p.Gly366Val) c.1061G>T (p.Gly354Val) c.1058G>T (p.Gly353Val) c.488G>T (p.Gly163Val) n.1772-580C>A c.1013G>T (p.Gly338Val) c.521G>T (p.Gly174Val) | |
2 | g.27366844C>G | CA346197932 | EIF2B4,GTF3C2-AS2 | c.1106G>C (p.Gly369Ala) c.*372G>C (n.*372G>C) c.680G>C c.1103G>C (p.Gly368Ala) c.1166G>C (p.Gly389Ala) n.3007G>C c.1169G>C (p.Gly390Ala) c.1097G>C (p.Gly366Ala) c.1061G>C (p.Gly354Ala) c.1058G>C (p.Gly353Ala) c.488G>C (p.Gly163Ala) n.1772-580C>G c.1013G>C (p.Gly338Ala) c.521G>C (p.Gly174Ala) | |
2 | g.27366844C>T | CA346197933 | EIF2B4,GTF3C2-AS2 | c.1106G>A (p.Gly369Glu) c.*372G>A (n.*372G>A) c.680G>A c.1103G>A (p.Gly368Glu) c.1166G>A (p.Gly389Glu) n.3007G>A c.1169G>A (p.Gly390Glu) c.1097G>A (p.Gly366Glu) c.1061G>A (p.Gly354Glu) c.1058G>A (p.Gly353Glu) c.488G>A (p.Gly163Glu) n.1772-580C>T c.1013G>A (p.Gly338Glu) c.521G>A (p.Gly174Glu) | |
2 | g.27366845C>A | CA346197938 | EIF2B4,GTF3C2-AS2 | c.1105G>T (p.Gly369Ter) c.*371G>T (n.*371G>T) c.679G>T c.1102G>T (p.Gly368Ter) c.1165G>T (p.Gly389Ter) n.3006G>T c.1168G>T (p.Gly390Ter) c.1096G>T (p.Gly366Ter) c.1060G>T (p.Gly354Ter) c.1057G>T (p.Gly353Ter) c.487G>T (p.Gly163Ter) n.1772-579C>A c.1012G>T (p.Gly338Ter) c.520G>T (p.Gly174Ter) | |
2 | g.27366845C>G | CA346197934 | EIF2B4,GTF3C2-AS2 | c.1105G>C (p.Gly369Arg) c.*371G>C (n.*371G>C) c.679G>C c.1102G>C (p.Gly368Arg) c.1165G>C (p.Gly389Arg) n.3006G>C c.1168G>C (p.Gly390Arg) c.1096G>C (p.Gly366Arg) c.1060G>C (p.Gly354Arg) c.1057G>C (p.Gly353Arg) c.487G>C (p.Gly163Arg) n.1772-579C>G c.1012G>C (p.Gly338Arg) c.520G>C (p.Gly174Arg) | |
2 | g.27366845C>T | CA346197936 | EIF2B4,GTF3C2-AS2 | c.1105G>A (p.Gly369Arg) c.*371G>A (n.*371G>A) c.679G>A c.1102G>A (p.Gly368Arg) c.1165G>A (p.Gly389Arg) n.3006G>A c.1168G>A (p.Gly390Arg) c.1096G>A (p.Gly366Arg) c.1060G>A (p.Gly354Arg) c.1057G>A (p.Gly353Arg) c.487G>A (p.Gly163Arg) n.1772-579C>T c.1012G>A (p.Gly338Arg) c.520G>A (p.Gly174Arg) | |
2 | g.27366846T>A | CA346197940 | EIF2B4,GTF3C2-AS2 | c.1104A>T (p.Glu368Asp) c.*370A>T (n.*370A>T) c.678A>T c.1101A>T (p.Glu367Asp) c.1164A>T (p.Glu388Asp) n.3005A>T c.1167A>T (p.Glu389Asp) c.1095A>T (p.Glu365Asp) c.1059A>T (p.Glu353Asp) c.1056A>T (p.Glu352Asp) c.486A>T (p.Glu162Asp) n.1772-578T>A c.1011A>T (p.Glu337Asp) c.519A>T (p.Glu173Asp) | |
2 | g.27366846T>C | CA425606679 | EIF2B4,GTF3C2-AS2 | c.1104A>G (p.Glu368=) c.*370A>G (n.*370A>G) c.678A>G c.1101A>G (p.Glu367=) c.1164A>G (p.Glu388=) n.3005A>G c.1167A>G (p.Glu389=) c.1095A>G (p.Glu365=) c.1059A>G (p.Glu353=) c.1056A>G (p.Glu352=) c.486A>G (p.Glu162=) n.1772-578T>C c.1011A>G (p.Glu337=) c.519A>G (p.Glu173=) | |
2 | g.27366846T>G | CA346197941 | EIF2B4,GTF3C2-AS2 | c.1104A>C (p.Glu368Asp) c.*370A>C (n.*370A>C) c.678A>C c.1101A>C (p.Glu367Asp) c.1164A>C (p.Glu388Asp) n.3005A>C c.1167A>C (p.Glu389Asp) c.1095A>C (p.Glu365Asp) c.1059A>C (p.Glu353Asp) c.1056A>C (p.Glu352Asp) c.486A>C (p.Glu162Asp) n.1772-578T>G c.1011A>C (p.Glu337Asp) c.519A>C (p.Glu173Asp) | |
2 | g.27366847T>A | CA346197942 | EIF2B4,GTF3C2-AS2 | c.1103A>T (p.Glu368Val) c.*369A>T (n.*369A>T) c.677A>T c.1100A>T (p.Glu367Val) c.1163A>T (p.Glu388Val) n.3004A>T c.1166A>T (p.Glu389Val) c.1094A>T (p.Glu365Val) c.1058A>T (p.Glu353Val) c.1055A>T (p.Glu352Val) c.485A>T (p.Glu162Val) n.1772-577T>A c.1010A>T (p.Glu337Val) c.518A>T (p.Glu173Val) | |
2 | g.27366847T>C | CA346197944 | EIF2B4,GTF3C2-AS2 | c.1103A>G (p.Glu368Gly) c.*369A>G (n.*369A>G) c.677A>G c.1100A>G (p.Glu367Gly) c.1163A>G (p.Glu388Gly) n.3004A>G c.1166A>G (p.Glu389Gly) c.1094A>G (p.Glu365Gly) c.1058A>G (p.Glu353Gly) c.1055A>G (p.Glu352Gly) c.485A>G (p.Glu162Gly) n.1772-577T>C c.1010A>G (p.Glu337Gly) c.518A>G (p.Glu173Gly) | gnomAD v4 |
2 | g.27366847T>G | CA346197945 | EIF2B4,GTF3C2-AS2 | c.1103A>C (p.Glu368Ala) c.*369A>C (n.*369A>C) c.677A>C c.1100A>C (p.Glu367Ala) c.1163A>C (p.Glu388Ala) n.3004A>C c.1166A>C (p.Glu389Ala) c.1094A>C (p.Glu365Ala) c.1058A>C (p.Glu353Ala) c.1055A>C (p.Glu352Ala) c.485A>C (p.Glu162Ala) n.1772-577T>G c.1010A>C (p.Glu337Ala) c.518A>C (p.Glu173Ala) | |
2 | g.27366848C>A | CA346197946 | EIF2B4,GTF3C2-AS2 | c.1102G>T (p.Glu368Ter) c.*368G>T (n.*368G>T) c.676G>T c.1099G>T (p.Glu367Ter) c.1162G>T (p.Glu388Ter) n.3003G>T c.1165G>T (p.Glu389Ter) c.1093G>T (p.Glu365Ter) c.1057G>T (p.Glu353Ter) c.1054G>T (p.Glu352Ter) c.484G>T (p.Glu162Ter) n.1772-576C>A c.1009G>T (p.Glu337Ter) c.517G>T (p.Glu173Ter) | |
2 | g.27366848C= | CA1240244469 | EIF2B4,GTF3C2-AS2 | c.1102G= (p.Glu368=) c.*368G= (n.*368G=) c.676G= c.1099G= (p.Glu367=) c.1162G= (p.Glu388=) n.3003G= c.1165G= (p.Glu389=) c.1093G= (p.Glu365=) c.1057G= (p.Glu353=) c.1054G= (p.Glu352=) c.484G= (p.Glu162=) n.1772-576C= c.1009G= (p.Glu337=) c.517G= (p.Glu173=) | |
2 | g.27366848C>G | CA346197948 | EIF2B4,GTF3C2-AS2 | c.1102G>C (p.Glu368Gln) c.*368G>C (n.*368G>C) c.676G>C c.1099G>C (p.Glu367Gln) c.1162G>C (p.Glu388Gln) n.3003G>C c.1165G>C (p.Glu389Gln) c.1093G>C (p.Glu365Gln) c.1057G>C (p.Glu353Gln) c.1054G>C (p.Glu352Gln) c.484G>C (p.Glu162Gln) n.1772-576C>G c.1009G>C (p.Glu337Gln) c.517G>C (p.Glu173Gln) | |
2 | g.27366848C>T | CA1576654 | EIF2B4,GTF3C2-AS2 | c.1102G>A (p.Glu368Lys) c.*368G>A (n.*368G>A) c.676G>A c.1099G>A (p.Glu367Lys) c.1162G>A (p.Glu388Lys) n.3003G>A c.1165G>A (p.Glu389Lys) c.1093G>A (p.Glu365Lys) c.1057G>A (p.Glu353Lys) c.1054G>A (p.Glu352Lys) c.484G>A (p.Glu162Lys) n.1772-576C>T c.1009G>A (p.Glu337Lys) c.517G>A (p.Glu173Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27366849C>A | CA425606686 | EIF2B4,GTF3C2-AS2 | c.1101G>T (p.Leu367=) c.*367G>T (n.*367G>T) c.675G>T c.1098G>T (p.Leu366=) c.1161G>T (p.Leu387=) n.3002G>T c.1164G>T (p.Leu388=) c.1092G>T (p.Leu364=) c.1056G>T (p.Leu352=) c.1053G>T (p.Leu351=) c.483G>T (p.Leu161=) n.1772-575C>A c.1008G>T (p.Leu336=) c.516G>T (p.Leu172=) | |
2 | g.27366849C= | CA1240244475 | EIF2B4,GTF3C2-AS2 | c.1101G= (p.Leu367=) c.*367G= (n.*367G=) c.675G= c.1098G= (p.Leu366=) c.1161G= (p.Leu387=) n.3002G= c.1164G= (p.Leu388=) c.1092G= (p.Leu364=) c.1056G= (p.Leu352=) c.1053G= (p.Leu351=) c.483G= (p.Leu161=) n.1772-575C= c.1008G= (p.Leu336=) c.516G= (p.Leu172=) | |
2 | g.27366849C>G | CA425606691 | EIF2B4,GTF3C2-AS2 | c.1101G>C (p.Leu367=) c.*367G>C (n.*367G>C) c.675G>C c.1098G>C (p.Leu366=) c.1161G>C (p.Leu387=) n.3002G>C c.1164G>C (p.Leu388=) c.1092G>C (p.Leu364=) c.1056G>C (p.Leu352=) c.1053G>C (p.Leu351=) c.483G>C (p.Leu161=) n.1772-575C>G c.1008G>C (p.Leu336=) c.516G>C (p.Leu172=) | |
2 | g.27366849C>T | CA425606692 | EIF2B4,GTF3C2-AS2 | c.1101G>A (p.Leu367=) c.*367G>A (n.*367G>A) c.675G>A c.1098G>A (p.Leu366=) c.1161G>A (p.Leu387=) n.3002G>A c.1164G>A (p.Leu388=) c.1092G>A (p.Leu364=) c.1056G>A (p.Leu352=) c.1053G>A (p.Leu351=) c.483G>A (p.Leu161=) n.1772-575C>T c.1008G>A (p.Leu336=) c.516G>A (p.Leu172=) | dbSNP |
2 | g.27366850A>C | CA346197949 | EIF2B4,GTF3C2-AS2 | c.1100T>G (p.Leu367Arg) c.*366T>G (n.*366T>G) c.674T>G c.1097T>G (p.Leu366Arg) c.1160T>G (p.Leu387Arg) n.3001T>G c.1163T>G (p.Leu388Arg) c.1091T>G (p.Leu364Arg) c.1055T>G (p.Leu352Arg) c.1052T>G (p.Leu351Arg) c.482T>G (p.Leu161Arg) n.1772-574A>C c.1007T>G (p.Leu336Arg) c.515T>G (p.Leu172Arg) | |
2 | g.27366850A>G | CA346197951 | EIF2B4,GTF3C2-AS2 | c.1100T>C (p.Leu367Pro) c.*366T>C (n.*366T>C) c.674T>C c.1097T>C (p.Leu366Pro) c.1160T>C (p.Leu387Pro) n.3001T>C c.1163T>C (p.Leu388Pro) c.1091T>C (p.Leu364Pro) c.1055T>C (p.Leu352Pro) c.1052T>C (p.Leu351Pro) c.482T>C (p.Leu161Pro) n.1772-574A>G c.1007T>C (p.Leu336Pro) c.515T>C (p.Leu172Pro) | |
2 | g.27366850A>T | CA346197950 | EIF2B4,GTF3C2-AS2 | c.1100T>A (p.Leu367Gln) c.*366T>A (n.*366T>A) c.674T>A c.1097T>A (p.Leu366Gln) c.1160T>A (p.Leu387Gln) n.3001T>A c.1163T>A (p.Leu388Gln) c.1091T>A (p.Leu364Gln) c.1055T>A (p.Leu352Gln) c.1052T>A (p.Leu351Gln) c.482T>A (p.Leu161Gln) n.1772-574A>T c.1007T>A (p.Leu336Gln) c.515T>A (p.Leu172Gln) | |
2 | g.27366851G>A | CA425606699 | EIF2B4,GTF3C2-AS2 | c.1099C>T (p.Leu367=) c.*365C>T (n.*365C>T) c.673C>T c.1096C>T (p.Leu366=) c.1159C>T (p.Leu387=) n.3000C>T c.1162C>T (p.Leu388=) c.1090C>T (p.Leu364=) c.1054C>T (p.Leu352=) c.1051C>T (p.Leu351=) c.481C>T (p.Leu161=) n.1772-573G>A c.1006C>T (p.Leu336=) c.514C>T (p.Leu172=) | |
2 | g.27366851G>C | CA346197952 | EIF2B4,GTF3C2-AS2 | c.1099C>G (p.Leu367Val) c.*365C>G (n.*365C>G) c.673C>G c.1096C>G (p.Leu366Val) c.1159C>G (p.Leu387Val) n.3000C>G c.1162C>G (p.Leu388Val) c.1090C>G (p.Leu364Val) c.1054C>G (p.Leu352Val) c.1051C>G (p.Leu351Val) c.481C>G (p.Leu161Val) n.1772-573G>C c.1006C>G (p.Leu336Val) c.514C>G (p.Leu172Val) | |
2 | g.27366851G>T | CA346197954 | EIF2B4,GTF3C2-AS2 | c.1099C>A (p.Leu367Met) c.*365C>A (n.*365C>A) c.673C>A c.1096C>A (p.Leu366Met) c.1159C>A (p.Leu387Met) n.3000C>A c.1162C>A (p.Leu388Met) c.1090C>A (p.Leu364Met) c.1054C>A (p.Leu352Met) c.1051C>A (p.Leu351Met) c.481C>A (p.Leu161Met) n.1772-573G>T c.1006C>A (p.Leu336Met) c.514C>A (p.Leu172Met) | |
2 | g.27366852C>A | CA346197956 | EIF2B4,GTF3C2-AS2 | c.1098G>T (p.Trp366Cys) c.*364G>T (n.*364G>T) c.672G>T c.1095G>T (p.Trp365Cys) c.1158G>T (p.Trp386Cys) n.2999G>T c.1161G>T (p.Trp387Cys) c.1089G>T (p.Trp363Cys) c.1053G>T (p.Trp351Cys) c.1050G>T (p.Trp350Cys) c.480G>T (p.Trp160Cys) n.1772-572C>A c.1005G>T (p.Trp335Cys) c.513G>T (p.Trp171Cys) | ClinVar dbSNP |
2 | g.27366852C>G | CA346197957 | EIF2B4,GTF3C2-AS2 | c.1098G>C (p.Trp366Cys) c.*364G>C (n.*364G>C) c.672G>C c.1095G>C (p.Trp365Cys) c.1158G>C (p.Trp386Cys) n.2999G>C c.1161G>C (p.Trp387Cys) c.1089G>C (p.Trp363Cys) c.1053G>C (p.Trp351Cys) c.1050G>C (p.Trp350Cys) c.480G>C (p.Trp160Cys) n.1772-572C>G c.1005G>C (p.Trp335Cys) c.513G>C (p.Trp171Cys) | |
2 | g.27366852C>T | CA346197959 | EIF2B4,GTF3C2-AS2 | c.1098G>A (p.Trp366Ter) c.*364G>A (n.*364G>A) c.672G>A c.1095G>A (p.Trp365Ter) c.1158G>A (p.Trp386Ter) n.2999G>A c.1161G>A (p.Trp387Ter) c.1089G>A (p.Trp363Ter) c.1053G>A (p.Trp351Ter) c.1050G>A (p.Trp350Ter) c.480G>A (p.Trp160Ter) n.1772-572C>T c.1005G>A (p.Trp335Ter) c.513G>A (p.Trp171Ter) | |
2 | g.27366853C>A | CA346197961 | EIF2B4,GTF3C2-AS2 | c.1097G>T (p.Trp366Leu) c.*363G>T (n.*363G>T) c.671G>T c.1094G>T (p.Trp365Leu) c.1157G>T (p.Trp386Leu) n.2998G>T c.1160G>T (p.Trp387Leu) c.1088G>T (p.Trp363Leu) c.1052G>T (p.Trp351Leu) c.1049G>T (p.Trp350Leu) c.479G>T (p.Trp160Leu) n.1772-571C>A c.1004G>T (p.Trp335Leu) c.512G>T (p.Trp171Leu) | |
2 | g.27366853C>G | CA346197962 | EIF2B4,GTF3C2-AS2 | c.1097G>C (p.Trp366Ser) c.*363G>C (n.*363G>C) c.671G>C c.1094G>C (p.Trp365Ser) c.1157G>C (p.Trp386Ser) n.2998G>C c.1160G>C (p.Trp387Ser) c.1088G>C (p.Trp363Ser) c.1052G>C (p.Trp351Ser) c.1049G>C (p.Trp350Ser) c.479G>C (p.Trp160Ser) n.1772-571C>G c.1004G>C (p.Trp335Ser) c.512G>C (p.Trp171Ser) | |
2 | g.27366853C>T | CA346197964 | EIF2B4,GTF3C2-AS2 | c.1097G>A (p.Trp366Ter) c.*363G>A (n.*363G>A) c.671G>A c.1094G>A (p.Trp365Ter) c.1157G>A (p.Trp386Ter) n.2998G>A c.1160G>A (p.Trp387Ter) c.1088G>A (p.Trp363Ter) c.1052G>A (p.Trp351Ter) c.1049G>A (p.Trp350Ter) c.479G>A (p.Trp160Ter) n.1772-571C>T c.1004G>A (p.Trp335Ter) c.512G>A (p.Trp171Ter) | |
2 | g.27366854A>C | CA346197966 | EIF2B4,GTF3C2-AS2 | c.1096T>G (p.Trp366Gly) c.*362T>G (n.*362T>G) c.670T>G c.1093T>G (p.Trp365Gly) c.1156T>G (p.Trp386Gly) n.2997T>G c.1159T>G (p.Trp387Gly) c.1087T>G (p.Trp363Gly) c.1051T>G (p.Trp351Gly) c.1048T>G (p.Trp350Gly) c.478T>G (p.Trp160Gly) n.1772-570A>C c.1003T>G (p.Trp335Gly) c.511T>G (p.Trp171Gly) | |
2 | g.27366854A>G | CA346197968 | EIF2B4,GTF3C2-AS2 | c.1096T>C (p.Trp366Arg) c.*362T>C (n.*362T>C) c.670T>C c.1093T>C (p.Trp365Arg) c.1156T>C (p.Trp386Arg) n.2997T>C c.1159T>C (p.Trp387Arg) c.1087T>C (p.Trp363Arg) c.1051T>C (p.Trp351Arg) c.1048T>C (p.Trp350Arg) c.478T>C (p.Trp160Arg) n.1772-570A>G c.1003T>C (p.Trp335Arg) c.511T>C (p.Trp171Arg) | |
2 | g.27366854A>T | CA346197969 | EIF2B4,GTF3C2-AS2 | c.1096T>A (p.Trp366Arg) c.*362T>A (n.*362T>A) c.670T>A c.1093T>A (p.Trp365Arg) c.1156T>A (p.Trp386Arg) n.2997T>A c.1159T>A (p.Trp387Arg) c.1087T>A (p.Trp363Arg) c.1051T>A (p.Trp351Arg) c.1048T>A (p.Trp350Arg) c.478T>A (p.Trp160Arg) n.1772-570A>T c.1003T>A (p.Trp335Arg) c.511T>A (p.Trp171Arg) | |
2 | g.27366855T>A | CA425606708 | EIF2B4,GTF3C2-AS2 | c.1095A>T (p.Pro365=) c.*361A>T (n.*361A>T) c.669A>T c.1092A>T (p.Pro364=) c.1155A>T (p.Pro385=) n.2996A>T c.1158A>T (p.Pro386=) c.1086A>T (p.Pro362=) c.1050A>T (p.Pro350=) c.1047A>T (p.Pro349=) c.477A>T (p.Pro159=) n.1772-569T>A c.1002A>T (p.Pro334=) c.510A>T (p.Pro170=) | |
2 | g.27366855T>C | CA1576655 | EIF2B4,GTF3C2-AS2 | c.1095A>G (p.Pro365=) c.*361A>G (n.*361A>G) c.669A>G c.1092A>G (p.Pro364=) c.1155A>G (p.Pro385=) n.2996A>G c.1158A>G (p.Pro386=) c.1086A>G (p.Pro362=) c.1050A>G (p.Pro350=) c.1047A>G (p.Pro349=) c.477A>G (p.Pro159=) n.1772-569T>C c.1002A>G (p.Pro334=) c.510A>G (p.Pro170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27366855T>G | CA425606709 | EIF2B4,GTF3C2-AS2 | c.1095A>C (p.Pro365=) c.*361A>C (n.*361A>C) c.669A>C c.1092A>C (p.Pro364=) c.1155A>C (p.Pro385=) n.2996A>C c.1158A>C (p.Pro386=) c.1086A>C (p.Pro362=) c.1050A>C (p.Pro350=) c.1047A>C (p.Pro349=) c.477A>C (p.Pro159=) n.1772-569T>G c.1002A>C (p.Pro334=) c.510A>C (p.Pro170=) | |
2 | g.27366855T= | CA1240244479 | EIF2B4,GTF3C2-AS2 | c.1095A= (p.Pro365=) c.*361A= (n.*361A=) c.669A= c.1092A= (p.Pro364=) c.1155A= (p.Pro385=) n.2996A= c.1158A= (p.Pro386=) c.1086A= (p.Pro362=) c.1050A= (p.Pro350=) c.1047A= (p.Pro349=) c.477A= (p.Pro159=) n.1772-569T= c.1002A= (p.Pro334=) c.510A= (p.Pro170=) | |
2 | g.27366856G>A | CA346197972 | EIF2B4,GTF3C2-AS2 | c.1094C>T (p.Pro365Leu) c.*360C>T (n.*360C>T) c.668C>T c.1091C>T (p.Pro364Leu) c.1154C>T (p.Pro385Leu) n.2995C>T c.1157C>T (p.Pro386Leu) c.1085C>T (p.Pro362Leu) c.1049C>T (p.Pro350Leu) c.1046C>T (p.Pro349Leu) c.476C>T (p.Pro159Leu) n.1772-568G>A c.1001C>T (p.Pro334Leu) c.509C>T (p.Pro170Leu) | dbSNP |
2 | g.27366856G>C | CA346197976 | EIF2B4,GTF3C2-AS2 | c.1094C>G (p.Pro365Arg) c.*360C>G (n.*360C>G) c.668C>G c.1091C>G (p.Pro364Arg) c.1154C>G (p.Pro385Arg) n.2995C>G c.1157C>G (p.Pro386Arg) c.1085C>G (p.Pro362Arg) c.1049C>G (p.Pro350Arg) c.1046C>G (p.Pro349Arg) c.476C>G (p.Pro159Arg) n.1772-568G>C c.1001C>G (p.Pro334Arg) c.509C>G (p.Pro170Arg) | COSMIC COSMIC |
2 | g.27366856G= | CA1240244484 | EIF2B4,GTF3C2-AS2 | c.1094C= (p.Pro365=) c.*360C= (n.*360C=) c.668C= c.1091C= (p.Pro364=) c.1154C= (p.Pro385=) n.2995C= c.1157C= (p.Pro386=) c.1085C= (p.Pro362=) c.1049C= (p.Pro350=) c.1046C= (p.Pro349=) c.476C= (p.Pro159=) n.1772-568G= c.1001C= (p.Pro334=) c.509C= (p.Pro170=) | |
2 | g.27366856G>T | CA346197974 | EIF2B4,GTF3C2-AS2 | c.1094C>A (p.Pro365Gln) c.*360C>A (n.*360C>A) c.668C>A c.1091C>A (p.Pro364Gln) c.1154C>A (p.Pro385Gln) n.2995C>A c.1157C>A (p.Pro386Gln) c.1085C>A (p.Pro362Gln) c.1049C>A (p.Pro350Gln) c.1046C>A (p.Pro349Gln) c.476C>A (p.Pro159Gln) n.1772-568G>T c.1001C>A (p.Pro334Gln) c.509C>A (p.Pro170Gln) | |
2 | g.27366857G>A | CA346197978 | EIF2B4,GTF3C2-AS2 | c.1093C>T (p.Pro365Ser) c.*359C>T (n.*359C>T) c.667C>T c.1090C>T (p.Pro364Ser) c.1153C>T (p.Pro385Ser) n.2994C>T c.1156C>T (p.Pro386Ser) c.1084C>T (p.Pro362Ser) c.1048C>T (p.Pro350Ser) c.1045C>T (p.Pro349Ser) c.475C>T (p.Pro159Ser) n.1772-567G>A c.1000C>T (p.Pro334Ser) c.508C>T (p.Pro170Ser) | |
2 | g.27366857G>C | CA346197979 | EIF2B4,GTF3C2-AS2 | c.1093C>G (p.Pro365Ala) c.*359C>G (n.*359C>G) c.667C>G c.1090C>G (p.Pro364Ala) c.1153C>G (p.Pro385Ala) n.2994C>G c.1156C>G (p.Pro386Ala) c.1084C>G (p.Pro362Ala) c.1048C>G (p.Pro350Ala) c.1045C>G (p.Pro349Ala) c.475C>G (p.Pro159Ala) n.1772-567G>C c.1000C>G (p.Pro334Ala) c.508C>G (p.Pro170Ala) | gnomAD v4 |
2 | g.27366857G>T | CA346197981 | EIF2B4,GTF3C2-AS2 | c.1093C>A (p.Pro365Thr) c.*359C>A (n.*359C>A) c.667C>A c.1090C>A (p.Pro364Thr) c.1153C>A (p.Pro385Thr) n.2994C>A c.1156C>A (p.Pro386Thr) c.1084C>A (p.Pro362Thr) c.1048C>A (p.Pro350Thr) c.1045C>A (p.Pro349Thr) c.475C>A (p.Pro159Thr) n.1772-567G>T c.1000C>A (p.Pro334Thr) c.508C>A (p.Pro170Thr) | |
2 | g.27366858C>A | CA425606717 | EIF2B4,GTF3C2-AS2 | c.1092G>T (p.Arg364=) c.*358G>T (n.*358G>T) c.666G>T c.1089G>T (p.Arg363=) c.1152G>T (p.Arg384=) n.2993G>T c.1155G>T (p.Arg385=) c.1083G>T (p.Arg361=) c.1047G>T (p.Arg349=) c.1044G>T (p.Arg348=) c.474G>T (p.Arg158=) n.1772-566C>A c.999G>T (p.Arg333=) c.507G>T (p.Arg169=) | |
2 | g.27366858C>G | CA425606719 | EIF2B4,GTF3C2-AS2 | c.1092G>C (p.Arg364=) c.*358G>C (n.*358G>C) c.666G>C c.1089G>C (p.Arg363=) c.1152G>C (p.Arg384=) n.2993G>C c.1155G>C (p.Arg385=) c.1083G>C (p.Arg361=) c.1047G>C (p.Arg349=) c.1044G>C (p.Arg348=) c.474G>C (p.Arg158=) n.1772-566C>G c.999G>C (p.Arg333=) c.507G>C (p.Arg169=) | |
2 | g.27366858C>T | CA425606720 | EIF2B4,GTF3C2-AS2 | c.1092G>A (p.Arg364=) c.*358G>A (n.*358G>A) c.666G>A c.1089G>A (p.Arg363=) c.1152G>A (p.Arg384=) n.2993G>A c.1155G>A (p.Arg385=) c.1083G>A (p.Arg361=) c.1047G>A (p.Arg349=) c.1044G>A (p.Arg348=) c.474G>A (p.Arg158=) n.1772-566C>T c.999G>A (p.Arg333=) c.507G>A (p.Arg169=) | |
2 | g.27366859C>A | CA346197983 | EIF2B4,GTF3C2-AS2 | c.1091G>T (p.Arg364Leu) c.*357G>T (n.*357G>T) c.665G>T c.1088G>T (p.Arg363Leu) c.1151G>T (p.Arg384Leu) n.2992G>T c.1154G>T (p.Arg385Leu) c.1082G>T (p.Arg361Leu) c.1046G>T (p.Arg349Leu) c.1043G>T (p.Arg348Leu) c.473G>T (p.Arg158Leu) n.1772-565C>A c.998G>T (p.Arg333Leu) c.506G>T (p.Arg169Leu) | |
2 | g.27366859C= | CA1240244486 | EIF2B4,GTF3C2-AS2 | c.1091G= (p.Arg364=) c.*357G= (n.*357G=) c.665G= c.1088G= (p.Arg363=) c.1151G= (p.Arg384=) n.2992G= c.1154G= (p.Arg385=) c.1082G= (p.Arg361=) c.1046G= (p.Arg349=) c.1043G= (p.Arg348=) c.473G= (p.Arg158=) n.1772-565C= c.998G= (p.Arg333=) c.506G= (p.Arg169=) | |
2 | g.27366859C>G | CA346197985 | EIF2B4,GTF3C2-AS2 | c.1091G>C (p.Arg364Pro) c.*357G>C (n.*357G>C) c.665G>C c.1088G>C (p.Arg363Pro) c.1151G>C (p.Arg384Pro) n.2992G>C c.1154G>C (p.Arg385Pro) c.1082G>C (p.Arg361Pro) c.1046G>C (p.Arg349Pro) c.1043G>C (p.Arg348Pro) c.473G>C (p.Arg158Pro) n.1772-565C>G c.998G>C (p.Arg333Pro) c.506G>C (p.Arg169Pro) | |
2 | g.27366859C>T | CA1576656 | EIF2B4,GTF3C2-AS2 | c.1091G>A (p.Arg364Gln) c.*357G>A (n.*357G>A) c.665G>A c.1088G>A (p.Arg363Gln) c.1151G>A (p.Arg384Gln) n.2992G>A c.1154G>A (p.Arg385Gln) c.1082G>A (p.Arg361Gln) c.1046G>A (p.Arg349Gln) c.1043G>A (p.Arg348Gln) c.473G>A (p.Arg158Gln) n.1772-565C>T c.998G>A (p.Arg333Gln) c.506G>A (p.Arg169Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27366860G>A | CA346197988 | EIF2B4,GTF3C2-AS2 | c.1090C>T (p.Arg364Trp) c.*356C>T (n.*356C>T) c.664C>T c.1087C>T (p.Arg363Trp) c.1150C>T (p.Arg384Trp) n.2991C>T c.1153C>T (p.Arg385Trp) c.1081C>T (p.Arg361Trp) c.1045C>T (p.Arg349Trp) c.1042C>T (p.Arg348Trp) c.472C>T (p.Arg158Trp) n.1772-564G>A c.997C>T (p.Arg333Trp) c.505C>T (p.Arg169Trp) | gnomAD v4 |
2 | g.27366860G>C | CA346197989 | EIF2B4,GTF3C2-AS2 | c.1090C>G (p.Arg364Gly) c.*356C>G (n.*356C>G) c.664C>G c.1087C>G (p.Arg363Gly) c.1150C>G (p.Arg384Gly) n.2991C>G c.1153C>G (p.Arg385Gly) c.1081C>G (p.Arg361Gly) c.1045C>G (p.Arg349Gly) c.1042C>G (p.Arg348Gly) c.472C>G (p.Arg158Gly) n.1772-564G>C c.997C>G (p.Arg333Gly) c.505C>G (p.Arg169Gly) | |
2 | g.27366860G= | CA1240244489 | EIF2B4,GTF3C2-AS2 | c.1090C= (p.Arg364=) c.*356C= (n.*356C=) c.664C= c.1087C= (p.Arg363=) c.1150C= (p.Arg384=) n.2991C= c.1153C= (p.Arg385=) c.1081C= (p.Arg361=) c.1045C= (p.Arg349=) c.1042C= (p.Arg348=) c.472C= (p.Arg158=) n.1772-564G= c.997C= (p.Arg333=) c.505C= (p.Arg169=) | |
2 | g.27366860G>T | CA425606725 | EIF2B4,GTF3C2-AS2 | c.1090C>A (p.Arg364=) c.*356C>A (n.*356C>A) c.664C>A c.1087C>A (p.Arg363=) c.1150C>A (p.Arg384=) n.2991C>A c.1153C>A (p.Arg385=) c.1081C>A (p.Arg361=) c.1045C>A (p.Arg349=) c.1042C>A (p.Arg348=) c.472C>A (p.Arg158=) n.1772-564G>T c.997C>A (p.Arg333=) c.505C>A (p.Arg169=) | dbSNP gnomAD v2 |
2 | g.27366861G>A | CA425606728 | EIF2B4,GTF3C2-AS2 | c.1089C>T (p.Ser363=) c.*355C>T (n.*355C>T) c.663C>T c.1086C>T (p.Ser362=) c.1149C>T (p.Ser383=) n.2990C>T c.1152C>T (p.Ser384=) c.1080C>T (p.Ser360=) c.1044C>T (p.Ser348=) c.1041C>T (p.Ser347=) c.471C>T (p.Ser157=) n.1772-563G>A c.996C>T (p.Ser332=) c.504C>T (p.Ser168=) | gnomAD v4 |
2 | g.27366861G>C | CA346197991 | EIF2B4,GTF3C2-AS2 | c.1089C>G (p.Ser363Arg) c.*355C>G (n.*355C>G) c.663C>G c.1086C>G (p.Ser362Arg) c.1149C>G (p.Ser383Arg) n.2990C>G c.1152C>G (p.Ser384Arg) c.1080C>G (p.Ser360Arg) c.1044C>G (p.Ser348Arg) c.1041C>G (p.Ser347Arg) c.471C>G (p.Ser157Arg) n.1772-563G>C c.996C>G (p.Ser332Arg) c.504C>G (p.Ser168Arg) | |
2 | g.27366861G>T | CA346197993 | EIF2B4,GTF3C2-AS2 | c.1089C>A (p.Ser363Arg) c.*355C>A (n.*355C>A) c.663C>A c.1086C>A (p.Ser362Arg) c.1149C>A (p.Ser383Arg) n.2990C>A c.1152C>A (p.Ser384Arg) c.1080C>A (p.Ser360Arg) c.1044C>A (p.Ser348Arg) c.1041C>A (p.Ser347Arg) c.471C>A (p.Ser157Arg) n.1772-563G>T c.996C>A (p.Ser332Arg) c.504C>A (p.Ser168Arg) | |
2 | g.27366862C>A | CA346197995 | EIF2B4,GTF3C2-AS2 | c.1088G>T (p.Ser363Ile) c.*354G>T (n.*354G>T) c.662G>T c.1085G>T (p.Ser362Ile) c.1148G>T (p.Ser383Ile) n.2989G>T c.1151G>T (p.Ser384Ile) c.1079G>T (p.Ser360Ile) c.1043G>T (p.Ser348Ile) c.1040G>T (p.Ser347Ile) c.470G>T (p.Ser157Ile) n.1772-562C>A c.995G>T (p.Ser332Ile) c.503G>T (p.Ser168Ile) | |
2 | g.27366862C= | CA1240244491 | EIF2B4,GTF3C2-AS2 | c.1088G= (p.Ser363=) c.*354G= (n.*354G=) c.662G= c.1085G= (p.Ser362=) c.1148G= (p.Ser383=) n.2989G= c.1151G= (p.Ser384=) c.1079G= (p.Ser360=) c.1043G= (p.Ser348=) c.1040G= (p.Ser347=) c.470G= (p.Ser157=) n.1772-562C= c.995G= (p.Ser332=) c.503G= (p.Ser168=) | |
2 | g.27366862C>G | CA1576657 | EIF2B4,GTF3C2-AS2 | c.1088G>C (p.Ser363Thr) c.*354G>C (n.*354G>C) c.662G>C c.1085G>C (p.Ser362Thr) c.1148G>C (p.Ser383Thr) n.2989G>C c.1151G>C (p.Ser384Thr) c.1079G>C (p.Ser360Thr) c.1043G>C (p.Ser348Thr) c.1040G>C (p.Ser347Thr) c.470G>C (p.Ser157Thr) n.1772-562C>G c.995G>C (p.Ser332Thr) c.503G>C (p.Ser168Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27366862C>T | CA1576658 | EIF2B4,GTF3C2-AS2 | c.1088G>A (p.Ser363Asn) c.*354G>A (n.*354G>A) c.662G>A c.1085G>A (p.Ser362Asn) c.1148G>A (p.Ser383Asn) n.2989G>A c.1151G>A (p.Ser384Asn) c.1079G>A (p.Ser360Asn) c.1043G>A (p.Ser348Asn) c.1040G>A (p.Ser347Asn) c.470G>A (p.Ser157Asn) n.1772-562C>T c.995G>A (p.Ser332Asn) c.503G>A (p.Ser168Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27366863T>A | CA346197997 | EIF2B4,GTF3C2-AS2 | c.1087A>T (p.Ser363Cys) c.*353A>T (n.*353A>T) c.661A>T c.1084A>T (p.Ser362Cys) c.1147A>T (p.Ser383Cys) n.2988A>T c.1150A>T (p.Ser384Cys) c.1078A>T (p.Ser360Cys) c.1042A>T (p.Ser348Cys) c.1039A>T (p.Ser347Cys) c.469A>T (p.Ser157Cys) n.1772-561T>A c.994A>T (p.Ser332Cys) c.502A>T (p.Ser168Cys) | |
2 | g.27366863T>C | CA346197999 | EIF2B4,GTF3C2-AS2 | c.1087A>G (p.Ser363Gly) c.*353A>G (n.*353A>G) c.661A>G c.1084A>G (p.Ser362Gly) c.1147A>G (p.Ser383Gly) n.2988A>G c.1150A>G (p.Ser384Gly) c.1078A>G (p.Ser360Gly) c.1042A>G (p.Ser348Gly) c.1039A>G (p.Ser347Gly) c.469A>G (p.Ser157Gly) n.1772-561T>C c.994A>G (p.Ser332Gly) c.502A>G (p.Ser168Gly) | |
2 | g.27366863T>G | CA44511492 | EIF2B4,GTF3C2-AS2 | c.1087A>C (p.Ser363Arg) c.*353A>C (n.*353A>C) c.661A>C c.1084A>C (p.Ser362Arg) c.1147A>C (p.Ser383Arg) n.2988A>C c.1150A>C (p.Ser384Arg) c.1078A>C (p.Ser360Arg) c.1042A>C (p.Ser348Arg) c.1039A>C (p.Ser347Arg) c.469A>C (p.Ser157Arg) n.1772-561T>G c.994A>C (p.Ser332Arg) c.502A>C (p.Ser168Arg) | dbSNP |
2 | g.27366863T= | CA1240244495 | EIF2B4,GTF3C2-AS2 | c.1087A= (p.Ser363=) c.*353A= (n.*353A=) c.661A= c.1084A= (p.Ser362=) c.1147A= (p.Ser383=) n.2988A= c.1150A= (p.Ser384=) c.1078A= (p.Ser360=) c.1042A= (p.Ser348=) c.1039A= (p.Ser347=) c.469A= (p.Ser157=) n.1772-561T= c.994A= (p.Ser332=) c.502A= (p.Ser168=) | |
2 | g.27366864G>A | CA425606737 | EIF2B4,GTF3C2-AS2 | c.1086C>T (p.Asp362=) c.*352C>T (n.*352C>T) c.660C>T c.1083C>T (p.Asp361=) c.1146C>T (p.Asp382=) n.2987C>T c.1149C>T (p.Asp383=) c.1077C>T (p.Asp359=) c.1041C>T (p.Asp347=) c.1038C>T (p.Asp346=) c.468C>T (p.Asp156=) n.1772-560G>A c.993C>T (p.Asp331=) c.501C>T (p.Asp167=) | |
2 | g.27366864G>C | CA346198000 | EIF2B4,GTF3C2-AS2 | c.1086C>G (p.Asp362Glu) c.*352C>G (n.*352C>G) c.660C>G c.1083C>G (p.Asp361Glu) c.1146C>G (p.Asp382Glu) n.2987C>G c.1149C>G (p.Asp383Glu) c.1077C>G (p.Asp359Glu) c.1041C>G (p.Asp347Glu) c.1038C>G (p.Asp346Glu) c.468C>G (p.Asp156Glu) n.1772-560G>C c.993C>G (p.Asp331Glu) c.501C>G (p.Asp167Glu) | |
2 | g.27366864G>T | CA346198002 | EIF2B4,GTF3C2-AS2 | c.1086C>A (p.Asp362Glu) c.*352C>A (n.*352C>A) c.660C>A c.1083C>A (p.Asp361Glu) c.1146C>A (p.Asp382Glu) n.2987C>A c.1149C>A (p.Asp383Glu) c.1077C>A (p.Asp359Glu) c.1041C>A (p.Asp347Glu) c.1038C>A (p.Asp346Glu) c.468C>A (p.Asp156Glu) n.1772-560G>T c.993C>A (p.Asp331Glu) c.501C>A (p.Asp167Glu) | |
2 | g.27366865T>A | CA346198007 | EIF2B4,GTF3C2-AS2 | c.1085A>T (p.Asp362Val) c.*351A>T (n.*351A>T) c.659A>T c.1082A>T (p.Asp361Val) c.1145A>T (p.Asp382Val) n.2986A>T c.1148A>T (p.Asp383Val) c.1076A>T (p.Asp359Val) c.1040A>T (p.Asp347Val) c.1037A>T (p.Asp346Val) c.467A>T (p.Asp156Val) n.1772-559T>A c.992A>T (p.Asp331Val) c.500A>T (p.Asp167Val) | |
2 | g.27366865T>C | CA346198006 | EIF2B4,GTF3C2-AS2 | c.1085A>G (p.Asp362Gly) c.*351A>G (n.*351A>G) c.659A>G c.1082A>G (p.Asp361Gly) c.1145A>G (p.Asp382Gly) n.2986A>G c.1148A>G (p.Asp383Gly) c.1076A>G (p.Asp359Gly) c.1040A>G (p.Asp347Gly) c.1037A>G (p.Asp346Gly) c.467A>G (p.Asp156Gly) n.1772-559T>C c.992A>G (p.Asp331Gly) c.500A>G (p.Asp167Gly) | |
2 | g.27366865T>G | CA346198004 | EIF2B4,GTF3C2-AS2 | c.1085A>C (p.Asp362Ala) c.*351A>C (n.*351A>C) c.659A>C c.1082A>C (p.Asp361Ala) c.1145A>C (p.Asp382Ala) n.2986A>C c.1148A>C (p.Asp383Ala) c.1076A>C (p.Asp359Ala) c.1040A>C (p.Asp347Ala) c.1037A>C (p.Asp346Ala) c.467A>C (p.Asp156Ala) n.1772-559T>G c.992A>C (p.Asp331Ala) c.500A>C (p.Asp167Ala) | |
2 | g.27366866C>A | CA346198009 | EIF2B4,GTF3C2-AS2 | c.1084G>T (p.Asp362Tyr) c.*350G>T (n.*350G>T) c.658G>T c.1081G>T (p.Asp361Tyr) c.1144G>T (p.Asp382Tyr) n.2985G>T c.1147G>T (p.Asp383Tyr) c.1075G>T (p.Asp359Tyr) c.1039G>T (p.Asp347Tyr) c.1036G>T (p.Asp346Tyr) c.466G>T (p.Asp156Tyr) n.1772-558C>A c.991G>T (p.Asp331Tyr) c.499G>T (p.Asp167Tyr) | |
2 | g.27366866C= | CA1240244501 | EIF2B4,GTF3C2-AS2 | c.1084G= (p.Asp362=) c.*350G= (n.*350G=) c.658G= c.1081G= (p.Asp361=) c.1144G= (p.Asp382=) n.2985G= c.1147G= (p.Asp383=) c.1075G= (p.Asp359=) c.1039G= (p.Asp347=) c.1036G= (p.Asp346=) c.466G= (p.Asp156=) n.1772-558C= c.991G= (p.Asp331=) c.499G= (p.Asp167=) | |
2 | g.27366866C>G | CA346198012 | EIF2B4,GTF3C2-AS2 | c.1084G>C (p.Asp362His) c.*350G>C (n.*350G>C) c.658G>C c.1081G>C (p.Asp361His) c.1144G>C (p.Asp382His) n.2985G>C c.1147G>C (p.Asp383His) c.1075G>C (p.Asp359His) c.1039G>C (p.Asp347His) c.1036G>C (p.Asp346His) c.466G>C (p.Asp156His) n.1772-558C>G c.991G>C (p.Asp331His) c.499G>C (p.Asp167His) | |
2 | g.27366866C>T | CA346198013 | EIF2B4,GTF3C2-AS2 | c.1084G>A (p.Asp362Asn) c.*350G>A (n.*350G>A) c.658G>A c.1081G>A (p.Asp361Asn) c.1144G>A (p.Asp382Asn) n.2985G>A c.1147G>A (p.Asp383Asn) c.1075G>A (p.Asp359Asn) c.1039G>A (p.Asp347Asn) c.1036G>A (p.Asp346Asn) c.466G>A (p.Asp156Asn) n.1772-558C>T c.991G>A (p.Asp331Asn) c.499G>A (p.Asp167Asn) | dbSNP |
2 | g.27366867C>A | CA425606745 | EIF2B4,GTF3C2-AS2 | c.1083G>T (p.Val361=) c.*349G>T (n.*349G>T) c.657G>T c.1080G>T (p.Val360=) c.1143G>T (p.Val381=) n.2984G>T c.1146G>T (p.Val382=) c.1074G>T (p.Val358=) c.1038G>T (p.Val346=) c.1035G>T (p.Val345=) c.465G>T (p.Val155=) n.1772-557C>A c.990G>T (p.Val330=) c.498G>T (p.Val166=) | |
2 | g.27366867C>G | CA425606746 | EIF2B4,GTF3C2-AS2 | c.1083G>C (p.Val361=) c.*349G>C (n.*349G>C) c.657G>C c.1080G>C (p.Val360=) c.1143G>C (p.Val381=) n.2984G>C c.1146G>C (p.Val382=) c.1074G>C (p.Val358=) c.1038G>C (p.Val346=) c.1035G>C (p.Val345=) c.465G>C (p.Val155=) n.1772-557C>G c.990G>C (p.Val330=) c.498G>C (p.Val166=) | |
2 | g.27366867C>T | CA425606748 | EIF2B4,GTF3C2-AS2 | c.1083G>A (p.Val361=) c.*349G>A (n.*349G>A) c.657G>A c.1080G>A (p.Val360=) c.1143G>A (p.Val381=) n.2984G>A c.1146G>A (p.Val382=) c.1074G>A (p.Val358=) c.1038G>A (p.Val346=) c.1035G>A (p.Val345=) c.465G>A (p.Val155=) n.1772-557C>T c.990G>A (p.Val330=) c.498G>A (p.Val166=) | |
2 | g.27366868A>C | CA346198016 | EIF2B4,GTF3C2-AS2 | c.1082T>G (p.Val361Gly) c.*348T>G (n.*348T>G) c.656T>G c.1079T>G (p.Val360Gly) c.1142T>G (p.Val381Gly) n.2983T>G c.1145T>G (p.Val382Gly) c.1073T>G (p.Val358Gly) c.1037T>G (p.Val346Gly) c.1034T>G (p.Val345Gly) c.464T>G (p.Val155Gly) n.1772-556A>C c.989T>G (p.Val330Gly) c.497T>G (p.Val166Gly) | |
2 | g.27366868A>G | CA346198018 | EIF2B4,GTF3C2-AS2 | c.1082T>C (p.Val361Ala) c.*348T>C (n.*348T>C) c.656T>C c.1079T>C (p.Val360Ala) c.1142T>C (p.Val381Ala) n.2983T>C c.1145T>C (p.Val382Ala) c.1073T>C (p.Val358Ala) c.1037T>C (p.Val346Ala) c.1034T>C (p.Val345Ala) c.464T>C (p.Val155Ala) n.1772-556A>G c.989T>C (p.Val330Ala) c.497T>C (p.Val166Ala) | |
2 | g.27366868A>T | CA346198021 | EIF2B4,GTF3C2-AS2 | c.1082T>A (p.Val361Glu) c.*348T>A (n.*348T>A) c.656T>A c.1079T>A (p.Val360Glu) c.1142T>A (p.Val381Glu) n.2983T>A c.1145T>A (p.Val382Glu) c.1073T>A (p.Val358Glu) c.1037T>A (p.Val346Glu) c.1034T>A (p.Val345Glu) c.464T>A (p.Val155Glu) n.1772-556A>T c.989T>A (p.Val330Glu) c.497T>A (p.Val166Glu) | |
2 | g.27366869C>A | CA346198023 | EIF2B4,GTF3C2-AS2 | c.1081G>T (p.Val361Leu) c.*347G>T (n.*347G>T) c.655G>T c.1078G>T (p.Val360Leu) c.1141G>T (p.Val381Leu) n.2982G>T c.1144G>T (p.Val382Leu) c.1072G>T (p.Val358Leu) c.1036G>T (p.Val346Leu) c.1033G>T (p.Val345Leu) c.463G>T (p.Val155Leu) n.1772-555C>A c.988G>T (p.Val330Leu) c.496G>T (p.Val166Leu) | |
2 | g.27366869C= | CA1240244504 | EIF2B4,GTF3C2-AS2 | c.1081G= (p.Val361=) c.*347G= (n.*347G=) c.655G= c.1078G= (p.Val360=) c.1141G= (p.Val381=) n.2982G= c.1144G= (p.Val382=) c.1072G= (p.Val358=) c.1036G= (p.Val346=) c.1033G= (p.Val345=) c.463G= (p.Val155=) n.1772-555C= c.988G= (p.Val330=) c.496G= (p.Val166=) | |
2 | g.27366869C>G | CA346198025 | EIF2B4,GTF3C2-AS2 | c.1081G>C (p.Val361Leu) c.*347G>C (n.*347G>C) c.655G>C c.1078G>C (p.Val360Leu) c.1141G>C (p.Val381Leu) n.2982G>C c.1144G>C (p.Val382Leu) c.1072G>C (p.Val358Leu) c.1036G>C (p.Val346Leu) c.1033G>C (p.Val345Leu) c.463G>C (p.Val155Leu) n.1772-555C>G c.988G>C (p.Val330Leu) c.496G>C (p.Val166Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27366869C>T | CA1576659 | EIF2B4,GTF3C2-AS2 | c.1081G>A (p.Val361Met) c.*347G>A (n.*347G>A) c.655G>A c.1078G>A (p.Val360Met) c.1141G>A (p.Val381Met) n.2982G>A c.1144G>A (p.Val382Met) c.1072G>A (p.Val358Met) c.1036G>A (p.Val346Met) c.1033G>A (p.Val345Met) c.463G>A (p.Val155Met) n.1772-555C>T c.988G>A (p.Val330Met) c.496G>A (p.Val166Met) | dbSNP ExAC gnomAD v2 |
2 | g.27366870C>A | CA425606755 | EIF2B4,GTF3C2-AS2 | c.1080G>T (p.Val360=) c.*346G>T (n.*346G>T) c.654G>T c.1077G>T (p.Val359=) c.1140G>T (p.Val380=) n.2981G>T c.1143G>T (p.Val381=) c.1071G>T (p.Val357=) c.1035G>T (p.Val345=) c.1032G>T (p.Val344=) c.462G>T (p.Val154=) n.1772-554C>A c.987G>T (p.Val329=) c.495G>T (p.Val165=) | |
2 | g.27366870C= | CA1240244508 | EIF2B4,GTF3C2-AS2 | c.1080G= (p.Val360=) c.*346G= (n.*346G=) c.654G= c.1077G= (p.Val359=) c.1140G= (p.Val380=) n.2981G= c.1143G= (p.Val381=) c.1071G= (p.Val357=) c.1035G= (p.Val345=) c.1032G= (p.Val344=) c.462G= (p.Val154=) n.1772-554C= c.987G= (p.Val329=) c.495G= (p.Val165=) | |
2 | g.27366870C>G | CA425606756 | EIF2B4,GTF3C2-AS2 | c.1080G>C (p.Val360=) c.*346G>C (n.*346G>C) c.654G>C c.1077G>C (p.Val359=) c.1140G>C (p.Val380=) n.2981G>C c.1143G>C (p.Val381=) c.1071G>C (p.Val357=) c.1035G>C (p.Val345=) c.1032G>C (p.Val344=) c.462G>C (p.Val154=) n.1772-554C>G c.987G>C (p.Val329=) c.495G>C (p.Val165=) | |
2 | g.27366870C>T | CA425606757 | EIF2B4,GTF3C2-AS2 | c.1080G>A (p.Val360=) c.*346G>A (n.*346G>A) c.654G>A c.1077G>A (p.Val359=) c.1140G>A (p.Val380=) n.2981G>A c.1143G>A (p.Val381=) c.1071G>A (p.Val357=) c.1035G>A (p.Val345=) c.1032G>A (p.Val344=) c.462G>A (p.Val154=) n.1772-554C>T c.987G>A (p.Val329=) c.495G>A (p.Val165=) | |
2 | g.27366870_27366871insT | CA1240244510 | EIF2B4,GTF3C2-AS2 | c.1079_1080insA (p.Val361GlyfsTer?) c.*345_*346insA (n.*345_*346insA) c.653_654insA c.1076_1077insA (p.Val360GlyfsTer?) c.1139_1140insA (p.Val381GlyfsTer?) n.2980_2981insA c.1142_1143insA (p.Val382GlyfsTer?) c.1070_1071insA (p.Val358GlyfsTer?) c.1034_1035insA (p.Val346GlyfsTer?) c.1031_1032insA (p.Val345GlyfsTer?) c.461_462insA (p.Val155GlyfsTer?) n.1772-554_1772-553insT c.986_987insA (p.Val330GlyfsTer?) c.494_495insA (p.Val166GlyfsTer?) | |
2 | g.27366871A>C | CA346198026 | EIF2B4,GTF3C2-AS2 | c.1079T>G (p.Val360Gly) c.*345T>G (n.*345T>G) c.653T>G c.1076T>G (p.Val359Gly) c.1139T>G (p.Val380Gly) n.2980T>G c.1142T>G (p.Val381Gly) c.1070T>G (p.Val357Gly) c.1034T>G (p.Val345Gly) c.1031T>G (p.Val344Gly) c.461T>G (p.Val154Gly) n.1772-553A>C c.986T>G (p.Val329Gly) c.494T>G (p.Val165Gly) | |
2 | g.27366871A>G | CA346198028 | EIF2B4,GTF3C2-AS2 | c.1079T>C (p.Val360Ala) c.*345T>C (n.*345T>C) c.653T>C c.1076T>C (p.Val359Ala) c.1139T>C (p.Val380Ala) n.2980T>C c.1142T>C (p.Val381Ala) c.1070T>C (p.Val357Ala) c.1034T>C (p.Val345Ala) c.1031T>C (p.Val344Ala) c.461T>C (p.Val154Ala) n.1772-553A>G c.986T>C (p.Val329Ala) c.494T>C (p.Val165Ala) | |
2 | g.27366871A>T | CA346198030 | EIF2B4,GTF3C2-AS2 | c.1079T>A (p.Val360Glu) c.*345T>A (n.*345T>A) c.653T>A c.1076T>A (p.Val359Glu) c.1139T>A (p.Val380Glu) n.2980T>A c.1142T>A (p.Val381Glu) c.1070T>A (p.Val357Glu) c.1034T>A (p.Val345Glu) c.1031T>A (p.Val344Glu) c.461T>A (p.Val154Glu) n.1772-553A>T c.986T>A (p.Val329Glu) c.494T>A (p.Val165Glu) | |
2 | g.27366873_27366875del | CA2576980950 | EIF2B4,GTF3C2-AS2 | c.1077_1079del (p.Val360del) c.*343_*345del (n.*343_*345del) c.651_653del c.1074_1076del (p.Val359del) c.1137_1139del (p.Val380del) n.2978_2980del c.1140_1142del (p.Val381del) c.1068_1070del (p.Val357del) c.1032_1034del (p.Val345del) c.1029_1031del (p.Val344del) c.459_461del (p.Val154del) n.1772-551_1772-549del c.984_986del (p.Val329del) c.492_494del (p.Val165del) | |
2 | g.27366872C>A | CA346198031 | EIF2B4,GTF3C2-AS2 | c.1078G>T (p.Val360Leu) c.*344G>T (n.*344G>T) c.652G>T c.1075G>T (p.Val359Leu) c.1138G>T (p.Val380Leu) n.2979G>T c.1141G>T (p.Val381Leu) c.1069G>T (p.Val357Leu) c.1033G>T (p.Val345Leu) c.1030G>T (p.Val344Leu) c.460G>T (p.Val154Leu) n.1772-552C>A c.985G>T (p.Val329Leu) c.493G>T (p.Val165Leu) | |
2 | g.27366872C>G | CA346198033 | EIF2B4,GTF3C2-AS2 | c.1078G>C (p.Val360Leu) c.*344G>C (n.*344G>C) c.652G>C c.1075G>C (p.Val359Leu) c.1138G>C (p.Val380Leu) n.2979G>C c.1141G>C (p.Val381Leu) c.1069G>C (p.Val357Leu) c.1033G>C (p.Val345Leu) c.1030G>C (p.Val344Leu) c.460G>C (p.Val154Leu) n.1772-552C>G c.985G>C (p.Val329Leu) c.493G>C (p.Val165Leu) | |
2 | g.27366872C>T | CA346198035 | EIF2B4,GTF3C2-AS2 | c.1078G>A (p.Val360Met) c.*344G>A (n.*344G>A) c.652G>A c.1075G>A (p.Val359Met) c.1138G>A (p.Val380Met) n.2979G>A c.1141G>A (p.Val381Met) c.1069G>A (p.Val357Met) c.1033G>A (p.Val345Met) c.1030G>A (p.Val344Met) c.460G>A (p.Val154Met) n.1772-552C>T c.985G>A (p.Val329Met) c.493G>A (p.Val165Met) | |
2 | g.27366873T>A | CA425606764 | EIF2B4,GTF3C2-AS2 | c.1077A>T (p.Val359=) c.*343A>T (n.*343A>T) c.651A>T c.1074A>T (p.Val358=) c.1137A>T (p.Val379=) n.2978A>T c.1140A>T (p.Val380=) c.1068A>T (p.Val356=) c.1032A>T (p.Val344=) c.1029A>T (p.Val343=) c.459A>T (p.Val153=) n.1772-551T>A c.984A>T (p.Val328=) c.492A>T (p.Val164=) | |
2 | g.27366873T>C | CA425606766 | EIF2B4,GTF3C2-AS2 | c.1077A>G (p.Val359=) c.*343A>G (n.*343A>G) c.651A>G c.1074A>G (p.Val358=) c.1137A>G (p.Val379=) n.2978A>G c.1140A>G (p.Val380=) c.1068A>G (p.Val356=) c.1032A>G (p.Val344=) c.1029A>G (p.Val343=) c.459A>G (p.Val153=) n.1772-551T>C c.984A>G (p.Val328=) c.492A>G (p.Val164=) | |
2 | g.27366873T>G | CA425606767 | EIF2B4,GTF3C2-AS2 | c.1077A>C (p.Val359=) c.*343A>C (n.*343A>C) c.651A>C c.1074A>C (p.Val358=) c.1137A>C (p.Val379=) n.2978A>C c.1140A>C (p.Val380=) c.1068A>C (p.Val356=) c.1032A>C (p.Val344=) c.1029A>C (p.Val343=) c.459A>C (p.Val153=) n.1772-551T>G c.984A>C (p.Val328=) c.492A>C (p.Val164=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27366873T= | CA1240244514 | EIF2B4,GTF3C2-AS2 | c.1077A= (p.Val359=) c.*343A= (n.*343A=) c.651A= c.1074A= (p.Val358=) c.1137A= (p.Val379=) n.2978A= c.1140A= (p.Val380=) c.1068A= (p.Val356=) c.1032A= (p.Val344=) c.1029A= (p.Val343=) c.459A= (p.Val153=) n.1772-551T= c.984A= (p.Val328=) c.492A= (p.Val164=) | |
2 | g.27366874A>C | CA346198037 | EIF2B4,GTF3C2-AS2 | c.1076T>G (p.Val359Gly) c.*342T>G (n.*342T>G) c.650T>G c.1073T>G (p.Val358Gly) c.1136T>G (p.Val379Gly) n.2977T>G c.1139T>G (p.Val380Gly) c.1067T>G (p.Val356Gly) c.1031T>G (p.Val344Gly) c.1028T>G (p.Val343Gly) c.458T>G (p.Val153Gly) n.1772-550A>C c.983T>G (p.Val328Gly) c.491T>G (p.Val164Gly) | |
2 | g.27366874A>G | CA346198038 | EIF2B4,GTF3C2-AS2 | c.1076T>C (p.Val359Ala) c.*342T>C (n.*342T>C) c.650T>C c.1073T>C (p.Val358Ala) c.1136T>C (p.Val379Ala) n.2977T>C c.1139T>C (p.Val380Ala) c.1067T>C (p.Val356Ala) c.1031T>C (p.Val344Ala) c.1028T>C (p.Val343Ala) c.458T>C (p.Val153Ala) n.1772-550A>G c.983T>C (p.Val328Ala) c.491T>C (p.Val164Ala) | |
2 | g.27366874A>T | CA346198040 | EIF2B4,GTF3C2-AS2 | c.1076T>A (p.Val359Glu) c.*342T>A (n.*342T>A) c.650T>A c.1073T>A (p.Val358Glu) c.1136T>A (p.Val379Glu) n.2977T>A c.1139T>A (p.Val380Glu) c.1067T>A (p.Val356Glu) c.1031T>A (p.Val344Glu) c.1028T>A (p.Val343Glu) c.458T>A (p.Val153Glu) n.1772-550A>T c.983T>A (p.Val328Glu) c.491T>A (p.Val164Glu) | |
2 | g.27366875C>A | CA346198044 | EIF2B4,GTF3C2-AS2 | c.1075G>T (p.Val359Leu) c.*341G>T (n.*341G>T) c.649G>T c.1072G>T (p.Val358Leu) c.1135G>T (p.Val379Leu) n.2976G>T c.1138G>T (p.Val380Leu) c.1066G>T (p.Val356Leu) c.1030G>T (p.Val344Leu) c.1027G>T (p.Val343Leu) c.457G>T (p.Val153Leu) n.1772-549C>A c.982G>T (p.Val328Leu) c.490G>T (p.Val164Leu) | |
2 | g.27366875C>G | CA346198046 | EIF2B4,GTF3C2-AS2 | c.1075G>C (p.Val359Leu) c.*341G>C (n.*341G>C) c.649G>C c.1072G>C (p.Val358Leu) c.1135G>C (p.Val379Leu) n.2976G>C c.1138G>C (p.Val380Leu) c.1066G>C (p.Val356Leu) c.1030G>C (p.Val344Leu) c.1027G>C (p.Val343Leu) c.457G>C (p.Val153Leu) n.1772-549C>G c.982G>C (p.Val328Leu) c.490G>C (p.Val164Leu) | |
2 | g.27366875C>T | CA346198047 | EIF2B4,GTF3C2-AS2 | c.1075G>A (p.Val359Ile) c.*341G>A (n.*341G>A) c.649G>A c.1072G>A (p.Val358Ile) c.1135G>A (p.Val379Ile) n.2976G>A c.1138G>A (p.Val380Ile) c.1066G>A (p.Val356Ile) c.1030G>A (p.Val344Ile) c.1027G>A (p.Val343Ile) c.457G>A (p.Val153Ile) n.1772-549C>T c.982G>A (p.Val328Ile) c.490G>A (p.Val164Ile) | |
2 | g.27366876C>A | CA425606771 | EIF2B4,GTF3C2-AS2 | c.1074G>T (p.Val358=) c.*340G>T (n.*340G>T) c.648G>T c.1071G>T (p.Val357=) c.1134G>T (p.Val378=) n.2975G>T c.1137G>T (p.Val379=) c.1065G>T (p.Val355=) c.1029G>T (p.Val343=) c.1026G>T (p.Val342=) c.456G>T (p.Val152=) n.1772-548C>A c.981G>T (p.Val327=) c.489G>T (p.Val163=) | |
2 | g.27366876C= | CA1240244517 | EIF2B4,GTF3C2-AS2 | c.1074G= (p.Val358=) c.*340G= (n.*340G=) c.648G= c.1071G= (p.Val357=) c.1134G= (p.Val378=) n.2975G= c.1137G= (p.Val379=) c.1065G= (p.Val355=) c.1029G= (p.Val343=) c.1026G= (p.Val342=) c.456G= (p.Val152=) n.1772-548C= c.981G= (p.Val327=) c.489G= (p.Val163=) | |
2 | g.27366876C>G | CA425606772 | EIF2B4,GTF3C2-AS2 | c.1074G>C (p.Val358=) c.*340G>C (n.*340G>C) c.648G>C c.1071G>C (p.Val357=) c.1134G>C (p.Val378=) n.2975G>C c.1137G>C (p.Val379=) c.1065G>C (p.Val355=) c.1029G>C (p.Val343=) c.1026G>C (p.Val342=) c.456G>C (p.Val152=) n.1772-548C>G c.981G>C (p.Val327=) c.489G>C (p.Val163=) | |
2 | g.27366876C>T | CA425606774 | EIF2B4,GTF3C2-AS2 | c.1074G>A (p.Val358=) c.*340G>A (n.*340G>A) c.648G>A c.1071G>A (p.Val357=) c.1134G>A (p.Val378=) n.2975G>A c.1137G>A (p.Val379=) c.1065G>A (p.Val355=) c.1029G>A (p.Val343=) c.1026G>A (p.Val342=) c.456G>A (p.Val152=) n.1772-548C>T c.981G>A (p.Val327=) c.489G>A (p.Val163=) | dbSNP |
2 | g.27366877A>C | CA346198052 | EIF2B4,GTF3C2-AS2 | c.1073T>G (p.Val358Gly) c.*339T>G (n.*339T>G) c.647T>G c.1070T>G (p.Val357Gly) c.1133T>G (p.Val378Gly) n.2974T>G c.1136T>G (p.Val379Gly) c.1064T>G (p.Val355Gly) c.1028T>G (p.Val343Gly) c.1025T>G (p.Val342Gly) c.455T>G (p.Val152Gly) n.1772-547A>C c.980T>G (p.Val327Gly) c.488T>G (p.Val163Gly) | |
2 | g.27366877A>G | CA346198049 | EIF2B4,GTF3C2-AS2 | c.1073T>C (p.Val358Ala) c.*339T>C (n.*339T>C) c.647T>C c.1070T>C (p.Val357Ala) c.1133T>C (p.Val378Ala) n.2974T>C c.1136T>C (p.Val379Ala) c.1064T>C (p.Val355Ala) c.1028T>C (p.Val343Ala) c.1025T>C (p.Val342Ala) c.455T>C (p.Val152Ala) n.1772-547A>G c.980T>C (p.Val327Ala) c.488T>C (p.Val163Ala) | |
2 | g.27366877A>T | CA346198051 | EIF2B4,GTF3C2-AS2 | c.1073T>A (p.Val358Glu) c.*339T>A (n.*339T>A) c.647T>A c.1070T>A (p.Val357Glu) c.1133T>A (p.Val378Glu) n.2974T>A c.1136T>A (p.Val379Glu) c.1064T>A (p.Val355Glu) c.1028T>A (p.Val343Glu) c.1025T>A (p.Val342Glu) c.455T>A (p.Val152Glu) n.1772-547A>T c.980T>A (p.Val327Glu) c.488T>A (p.Val163Glu) | |
2 | g.27366878C>A | CA1576661 | EIF2B4,GTF3C2-AS2 | c.1072G>T (p.Val358Leu) c.*338G>T (n.*338G>T) c.646G>T c.1069G>T (p.Val357Leu) c.1132G>T (p.Val378Leu) n.2973G>T c.1135G>T (p.Val379Leu) c.1063G>T (p.Val355Leu) c.1027G>T (p.Val343Leu) c.1024G>T (p.Val342Leu) c.454G>T (p.Val152Leu) n.1772-546C>A c.979G>T (p.Val327Leu) c.487G>T (p.Val163Leu) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.27366878C= | CA1240244521 | EIF2B4,GTF3C2-AS2 | c.1072G= (p.Val358=) c.*338G= (n.*338G=) c.646G= c.1069G= (p.Val357=) c.1132G= (p.Val378=) n.2973G= c.1135G= (p.Val379=) c.1063G= (p.Val355=) c.1027G= (p.Val343=) c.1024G= (p.Val342=) c.454G= (p.Val152=) n.1772-546C= c.979G= (p.Val327=) c.487G= (p.Val163=) | |
2 | g.27366878C>G | CA1576660 | EIF2B4,GTF3C2-AS2 | c.1072G>C (p.Val358Leu) c.*338G>C (n.*338G>C) c.646G>C c.1069G>C (p.Val357Leu) c.1132G>C (p.Val378Leu) n.2973G>C c.1135G>C (p.Val379Leu) c.1063G>C (p.Val355Leu) c.1027G>C (p.Val343Leu) c.1024G>C (p.Val342Leu) c.454G>C (p.Val152Leu) n.1772-546C>G c.979G>C (p.Val327Leu) c.487G>C (p.Val163Leu) | dbSNP ExAC gnomAD v2 |
2 | g.27366878C>T | CA346198055 | EIF2B4,GTF3C2-AS2 | c.1072G>A (p.Val358Met) c.*338G>A (n.*338G>A) c.646G>A c.1069G>A (p.Val357Met) c.1132G>A (p.Val378Met) n.2973G>A c.1135G>A (p.Val379Met) c.1063G>A (p.Val355Met) c.1027G>A (p.Val343Met) c.1024G>A (p.Val342Met) c.454G>A (p.Val152Met) n.1772-546C>T c.979G>A (p.Val327Met) c.487G>A (p.Val163Met) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27366879C>A | CA425606777 | EIF2B4,GTF3C2-AS2 | c.1071G>T (p.Arg357=) c.*337G>T (n.*337G>T) c.645G>T c.1068G>T (p.Arg356=) c.1131G>T (p.Arg377=) n.2972G>T c.1134G>T (p.Arg378=) c.1062G>T (p.Arg354=) c.1026G>T (p.Arg342=) c.1023G>T (p.Arg341=) c.453G>T (p.Arg151=) n.1772-545C>A c.978G>T (p.Arg326=) c.486G>T (p.Arg162=) | |
2 | g.27366879C>G | CA425606778 | EIF2B4,GTF3C2-AS2 | c.1071G>C (p.Arg357=) c.*337G>C (n.*337G>C) c.645G>C c.1068G>C (p.Arg356=) c.1131G>C (p.Arg377=) n.2972G>C c.1134G>C (p.Arg378=) c.1062G>C (p.Arg354=) c.1026G>C (p.Arg342=) c.1023G>C (p.Arg341=) c.453G>C (p.Arg151=) n.1772-545C>G c.978G>C (p.Arg326=) c.486G>C (p.Arg162=) | |
2 | g.27366879C>T | CA425606779 | EIF2B4,GTF3C2-AS2 | c.1071G>A (p.Arg357=) c.*337G>A (n.*337G>A) c.645G>A c.1068G>A (p.Arg356=) c.1131G>A (p.Arg377=) n.2972G>A c.1134G>A (p.Arg378=) c.1062G>A (p.Arg354=) c.1026G>A (p.Arg342=) c.1023G>A (p.Arg341=) c.453G>A (p.Arg151=) n.1772-545C>T c.978G>A (p.Arg326=) c.486G>A (p.Arg162=) | gnomAD v4 |
2 | g.27366880C>A | CA346198057 | EIF2B4,GTF3C2-AS2 | c.1070G>T (p.Arg357Leu) c.*336G>T (n.*336G>T) c.644G>T c.1067G>T (p.Arg356Leu) c.1130G>T (p.Arg377Leu) n.2971G>T c.1133G>T (p.Arg378Leu) c.1061G>T (p.Arg354Leu) c.1025G>T (p.Arg342Leu) c.1022G>T (p.Arg341Leu) c.452G>T (p.Arg151Leu) n.1772-544C>A c.977G>T (p.Arg326Leu) c.485G>T (p.Arg162Leu) | gnomAD v4 |
2 | g.27366880C= | CA1240244528 | EIF2B4,GTF3C2-AS2 | c.1070G= (p.Arg357=) c.*336G= (n.*336G=) c.644G= c.1067G= (p.Arg356=) c.1130G= (p.Arg377=) n.2971G= c.1133G= (p.Arg378=) c.1061G= (p.Arg354=) c.1025G= (p.Arg342=) c.1022G= (p.Arg341=) c.452G= (p.Arg151=) n.1772-544C= c.977G= (p.Arg326=) c.485G= (p.Arg162=) | |
2 | g.27366880C>G | CA346198060 | EIF2B4,GTF3C2-AS2 | c.1070G>C (p.Arg357Pro) c.*336G>C (n.*336G>C) c.644G>C c.1067G>C (p.Arg356Pro) c.1130G>C (p.Arg377Pro) n.2971G>C c.1133G>C (p.Arg378Pro) c.1061G>C (p.Arg354Pro) c.1025G>C (p.Arg342Pro) c.1022G>C (p.Arg341Pro) c.452G>C (p.Arg151Pro) n.1772-544C>G c.977G>C (p.Arg326Pro) c.485G>C (p.Arg162Pro) | |
2 | g.27366880C>T | CA340161 | EIF2B4,GTF3C2-AS2 | c.1070G>A (p.Arg357Gln) c.*336G>A (n.*336G>A) c.644G>A c.1067G>A (p.Arg356Gln) c.1130G>A (p.Arg377Gln) n.2971G>A c.1133G>A (p.Arg378Gln) c.1061G>A (p.Arg354Gln) c.1025G>A (p.Arg342Gln) c.1022G>A (p.Arg341Gln) c.452G>A (p.Arg151Gln) n.1772-544C>T c.977G>A (p.Arg326Gln) c.485G>A (p.Arg162Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27366881G>A | CA1576662 | EIF2B4,GTF3C2-AS2 | c.1069C>T (p.Arg357Trp) c.*335C>T (n.*335C>T) c.643C>T c.1066C>T (p.Arg356Trp) c.1129C>T (p.Arg377Trp) n.2970C>T c.1132C>T (p.Arg378Trp) c.1060C>T (p.Arg354Trp) c.1024C>T (p.Arg342Trp) c.1021C>T (p.Arg341Trp) c.451C>T (p.Arg151Trp) n.1772-543G>A c.976C>T (p.Arg326Trp) c.484C>T (p.Arg162Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.27366881G>C | CA346198062 | EIF2B4,GTF3C2-AS2 | c.1069C>G (p.Arg357Gly) c.*335C>G (n.*335C>G) c.643C>G c.1066C>G (p.Arg356Gly) c.1129C>G (p.Arg377Gly) n.2970C>G c.1132C>G (p.Arg378Gly) c.1060C>G (p.Arg354Gly) c.1024C>G (p.Arg342Gly) c.1021C>G (p.Arg341Gly) c.451C>G (p.Arg151Gly) n.1772-543G>C c.976C>G (p.Arg326Gly) c.484C>G (p.Arg162Gly) | |
2 | g.27366881G= | CA1240244536 | EIF2B4,GTF3C2-AS2 | c.1069C= (p.Arg357=) c.*335C= (n.*335C=) c.643C= c.1066C= (p.Arg356=) c.1129C= (p.Arg377=) n.2970C= c.1132C= (p.Arg378=) c.1060C= (p.Arg354=) c.1024C= (p.Arg342=) c.1021C= (p.Arg341=) c.451C= (p.Arg151=) n.1772-543G= c.976C= (p.Arg326=) c.484C= (p.Arg162=) | |
2 | g.27366881G>T | CA425606783 | EIF2B4,GTF3C2-AS2 | c.1069C>A (p.Arg357=) c.*335C>A (n.*335C>A) c.643C>A c.1066C>A (p.Arg356=) c.1129C>A (p.Arg377=) n.2970C>A c.1132C>A (p.Arg378=) c.1060C>A (p.Arg354=) c.1024C>A (p.Arg342=) c.1021C>A (p.Arg341=) c.451C>A (p.Arg151=) n.1772-543G>T c.976C>A (p.Arg326=) c.484C>A (p.Arg162=) | |
2 | g.27366882A= | CA1240244540 | EIF2B4,GTF3C2-AS2 | c.1068T= (p.Phe356=) c.*334T= (n.*334T=) c.642T= c.1065T= (p.Phe355=) c.1128T= (p.Phe376=) n.2969T= c.1131T= (p.Phe377=) c.1059T= (p.Phe353=) c.1023T= (p.Phe341=) c.1020T= (p.Phe340=) c.450T= (p.Phe150=) n.1772-542A= c.975T= (p.Phe325=) c.483T= (p.Phe161=) | |
2 | g.27366882A>C | CA346198063 | EIF2B4,GTF3C2-AS2 | c.1068T>G (p.Phe356Leu) c.*334T>G (n.*334T>G) c.642T>G c.1065T>G (p.Phe355Leu) c.1128T>G (p.Phe376Leu) n.2969T>G c.1131T>G (p.Phe377Leu) c.1059T>G (p.Phe353Leu) c.1023T>G (p.Phe341Leu) c.1020T>G (p.Phe340Leu) c.450T>G (p.Phe150Leu) n.1772-542A>C c.975T>G (p.Phe325Leu) c.483T>G (p.Phe161Leu) | gnomAD v4 |
2 | g.27366882A>G | CA1576663 | EIF2B4,GTF3C2-AS2 | c.1068T>C (p.Phe356=) c.*334T>C (n.*334T>C) c.642T>C c.1065T>C (p.Phe355=) c.1128T>C (p.Phe376=) n.2969T>C c.1131T>C (p.Phe377=) c.1059T>C (p.Phe353=) c.1023T>C (p.Phe341=) c.1020T>C (p.Phe340=) c.450T>C (p.Phe150=) n.1772-542A>G c.975T>C (p.Phe325=) c.483T>C (p.Phe161=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27366882A>T | CA346198065 | EIF2B4,GTF3C2-AS2 | c.1068T>A (p.Phe356Leu) c.*334T>A (n.*334T>A) c.642T>A c.1065T>A (p.Phe355Leu) c.1128T>A (p.Phe376Leu) n.2969T>A c.1131T>A (p.Phe377Leu) c.1059T>A (p.Phe353Leu) c.1023T>A (p.Phe341Leu) c.1020T>A (p.Phe340Leu) c.450T>A (p.Phe150Leu) n.1772-542A>T c.975T>A (p.Phe325Leu) c.483T>A (p.Phe161Leu) | |
2 | g.27366883A= | CA1240244543 | EIF2B4,GTF3C2-AS2 | c.1067T= (p.Phe356=) c.*333T= (n.*333T=) c.641T= c.1064T= (p.Phe355=) c.1127T= (p.Phe376=) n.2968T= c.1130T= (p.Phe377=) c.1058T= (p.Phe353=) c.1022T= (p.Phe341=) c.1019T= (p.Phe340=) c.449T= (p.Phe150=) n.1772-541A= c.974T= (p.Phe325=) c.482T= (p.Phe161=) | |
2 | g.27366883A>C | CA346198066 | EIF2B4,GTF3C2-AS2 | c.1067T>G (p.Phe356Cys) c.*333T>G (n.*333T>G) c.641T>G c.1064T>G (p.Phe355Cys) c.1127T>G (p.Phe376Cys) n.2968T>G c.1130T>G (p.Phe377Cys) c.1058T>G (p.Phe353Cys) c.1022T>G (p.Phe341Cys) c.1019T>G (p.Phe340Cys) c.449T>G (p.Phe150Cys) n.1772-541A>C c.974T>G (p.Phe325Cys) c.482T>G (p.Phe161Cys) | dbSNP gnomAD v4 |
2 | g.27366883A>G | CA346198067 | EIF2B4,GTF3C2-AS2 | c.1067T>C (p.Phe356Ser) c.*333T>C (n.*333T>C) c.641T>C c.1064T>C (p.Phe355Ser) c.1127T>C (p.Phe376Ser) n.2968T>C c.1130T>C (p.Phe377Ser) c.1058T>C (p.Phe353Ser) c.1022T>C (p.Phe341Ser) c.1019T>C (p.Phe340Ser) c.449T>C (p.Phe150Ser) n.1772-541A>G c.974T>C (p.Phe325Ser) c.482T>C (p.Phe161Ser) | |
2 | g.27366883A>T | CA346198070 | EIF2B4,GTF3C2-AS2 | c.1067T>A (p.Phe356Tyr) c.*333T>A (n.*333T>A) c.641T>A c.1064T>A (p.Phe355Tyr) c.1127T>A (p.Phe376Tyr) n.2968T>A c.1130T>A (p.Phe377Tyr) c.1058T>A (p.Phe353Tyr) c.1022T>A (p.Phe341Tyr) c.1019T>A (p.Phe340Tyr) c.449T>A (p.Phe150Tyr) n.1772-541A>T c.974T>A (p.Phe325Tyr) c.482T>A (p.Phe161Tyr) | |
2 | g.27366883_27366884insC | CA2749265050 | EIF2B4,GTF3C2-AS2 | c.1066_1067insG (p.Phe356CysfsTer?) c.*332_*333insG (n.*332_*333insG) c.640_641insG c.1063_1064insG (p.Phe355CysfsTer?) c.1126_1127insG (p.Phe376CysfsTer?) n.2967_2968insG c.1129_1130insG (p.Phe377CysfsTer?) c.1057_1058insG (p.Phe353CysfsTer?) c.1021_1022insG (p.Phe341CysfsTer?) c.1018_1019insG (p.Phe340CysfsTer?) c.448_449insG (p.Phe150CysfsTer?) n.1772-541_1772-540insC c.973_974insG (p.Phe325CysfsTer?) c.481_482insG (p.Phe161CysfsTer?) | |
2 | g.27366883_27366884insCAC | CA2749265051 | EIF2B4,GTF3C2-AS2 | c.1066_1067insGTG (p.Phe356delinsCysVal) c.*332_*333insGTG (n.*332_*333insGTG) c.640_641insGTG c.1063_1064insGTG (p.Phe355delinsCysVal) c.1126_1127insGTG (p.Phe376delinsCysVal) n.2967_2968insGTG c.1129_1130insGTG (p.Phe377delinsCysVal) c.1057_1058insGTG (p.Phe353delinsCysVal) c.1021_1022insGTG (p.Phe341delinsCysVal) c.1018_1019insGTG (p.Phe340delinsCysVal) c.448_449insGTG (p.Phe150delinsCysVal) n.1772-541_1772-540insCAC c.973_974insGTG (p.Phe325delinsCysVal) c.481_482insGTG (p.Phe161delinsCysVal) | |
2 | g.27366884A= | CA1240244547 | EIF2B4,GTF3C2-AS2 | c.1066T= (p.Phe356=) c.*332T= (n.*332T=) c.640T= c.1063T= (p.Phe355=) c.1126T= (p.Phe376=) n.2967T= c.1129T= (p.Phe377=) c.1057T= (p.Phe353=) c.1021T= (p.Phe341=) c.1018T= (p.Phe340=) c.448T= (p.Phe150=) n.1772-540A= c.973T= (p.Phe325=) c.481T= (p.Phe161=) | |
2 | g.27366884A>C | CA346198071 | EIF2B4,GTF3C2-AS2 | c.1066T>G (p.Phe356Val) c.*332T>G (n.*332T>G) c.640T>G c.1063T>G (p.Phe355Val) c.1126T>G (p.Phe376Val) n.2967T>G c.1129T>G (p.Phe377Val) c.1057T>G (p.Phe353Val) c.1021T>G (p.Phe341Val) c.1018T>G (p.Phe340Val) c.448T>G (p.Phe150Val) n.1772-540A>C c.973T>G (p.Phe325Val) c.481T>G (p.Phe161Val) | dbSNP gnomAD v4 |
2 | g.27366884A>G | CA346198073 | EIF2B4,GTF3C2-AS2 | c.1066T>C (p.Phe356Leu) c.*332T>C (n.*332T>C) c.640T>C c.1063T>C (p.Phe355Leu) c.1126T>C (p.Phe376Leu) n.2967T>C c.1129T>C (p.Phe377Leu) c.1057T>C (p.Phe353Leu) c.1021T>C (p.Phe341Leu) c.1018T>C (p.Phe340Leu) c.448T>C (p.Phe150Leu) n.1772-540A>G c.973T>C (p.Phe325Leu) c.481T>C (p.Phe161Leu) | |
2 | g.27366884A>T | CA346198076 | EIF2B4,GTF3C2-AS2 | c.1066T>A (p.Phe356Ile) c.*332T>A (n.*332T>A) c.640T>A c.1063T>A (p.Phe355Ile) c.1126T>A (p.Phe376Ile) n.2967T>A c.1129T>A (p.Phe377Ile) c.1057T>A (p.Phe353Ile) c.1021T>A (p.Phe341Ile) c.1018T>A (p.Phe340Ile) c.448T>A (p.Phe150Ile) n.1772-540A>T c.973T>A (p.Phe325Ile) c.481T>A (p.Phe161Ile) | |
2 | g.27366885C>A | CA425606787 | EIF2B4,GTF3C2-AS2 | c.1065G>T (p.Arg355=) c.*331G>T (n.*331G>T) c.639G>T c.1062G>T (p.Arg354=) c.1125G>T (p.Arg375=) n.2966G>T c.1128G>T (p.Arg376=) c.1056G>T (p.Arg352=) c.1020G>T (p.Arg340=) c.1017G>T (p.Arg339=) c.447G>T (p.Arg149=) n.1772-539C>A c.972G>T (p.Arg324=) c.480G>T (p.Arg160=) | |
2 | g.27366885C>G | CA425606788 | EIF2B4,GTF3C2-AS2 | c.1065G>C (p.Arg355=) c.*331G>C (n.*331G>C) c.639G>C c.1062G>C (p.Arg354=) c.1125G>C (p.Arg375=) n.2966G>C c.1128G>C (p.Arg376=) c.1056G>C (p.Arg352=) c.1020G>C (p.Arg340=) c.1017G>C (p.Arg339=) c.447G>C (p.Arg149=) n.1772-539C>G c.972G>C (p.Arg324=) c.480G>C (p.Arg160=) | |
2 | g.27366885C>T | CA425606789 | EIF2B4,GTF3C2-AS2 | c.1065G>A (p.Arg355=) c.*331G>A (n.*331G>A) c.639G>A c.1062G>A (p.Arg354=) c.1125G>A (p.Arg375=) n.2966G>A c.1128G>A (p.Arg376=) c.1056G>A (p.Arg352=) c.1020G>A (p.Arg340=) c.1017G>A (p.Arg339=) c.447G>A (p.Arg149=) n.1772-539C>T c.972G>A (p.Arg324=) c.480G>A (p.Arg160=) | |
2 | g.27366886C>A | CA346198081 | EIF2B4,GTF3C2-AS2 | c.1064G>T (p.Arg355Leu) c.*330G>T (n.*330G>T) c.638G>T c.1061G>T (p.Arg354Leu) c.1124G>T (p.Arg375Leu) n.2965G>T c.1127G>T (p.Arg376Leu) c.1055G>T (p.Arg352Leu) c.1019G>T (p.Arg340Leu) c.1016G>T (p.Arg339Leu) c.446G>T (p.Arg149Leu) n.1772-538C>A c.971G>T (p.Arg324Leu) c.479G>T (p.Arg160Leu) | |
2 | g.27366886C= | CA1240244551 | EIF2B4,GTF3C2-AS2 | c.1064G= (p.Arg355=) c.*330G= (n.*330G=) c.638G= c.1061G= (p.Arg354=) c.1124G= (p.Arg375=) n.2965G= c.1127G= (p.Arg376=) c.1055G= (p.Arg352=) c.1019G= (p.Arg340=) c.1016G= (p.Arg339=) c.446G= (p.Arg149=) n.1772-538C= c.971G= (p.Arg324=) c.479G= (p.Arg160=) | |
2 | g.27366886C>G | CA346198078 | EIF2B4,GTF3C2-AS2 | c.1064G>C (p.Arg355Pro) c.*330G>C (n.*330G>C) c.638G>C c.1061G>C (p.Arg354Pro) c.1124G>C (p.Arg375Pro) n.2965G>C c.1127G>C (p.Arg376Pro) c.1055G>C (p.Arg352Pro) c.1019G>C (p.Arg340Pro) c.1016G>C (p.Arg339Pro) c.446G>C (p.Arg149Pro) n.1772-538C>G c.971G>C (p.Arg324Pro) c.479G>C (p.Arg160Pro) | |
2 | g.27366886C>T | CA346198080 | EIF2B4,GTF3C2-AS2 | c.1064G>A (p.Arg355Gln) c.*330G>A (n.*330G>A) c.638G>A c.1061G>A (p.Arg354Gln) c.1124G>A (p.Arg375Gln) n.2965G>A c.1127G>A (p.Arg376Gln) c.1055G>A (p.Arg352Gln) c.1019G>A (p.Arg340Gln) c.1016G>A (p.Arg339Gln) c.446G>A (p.Arg149Gln) n.1772-538C>T c.971G>A (p.Arg324Gln) c.479G>A (p.Arg160Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27366887G>A | CA44511508 | EIF2B4,GTF3C2-AS2 | c.1063C>T (p.Arg355Trp) c.*329C>T (n.*329C>T) c.637C>T c.1060C>T (p.Arg354Trp) c.1123C>T (p.Arg375Trp) n.2964C>T c.1126C>T (p.Arg376Trp) c.1054C>T (p.Arg352Trp) c.1018C>T (p.Arg340Trp) c.1015C>T (p.Arg339Trp) c.445C>T (p.Arg149Trp) n.1772-537G>A c.970C>T (p.Arg324Trp) c.478C>T (p.Arg160Trp) | dbSNP gnomAD v4 |
2 | g.27366887G>C | CA346198083 | EIF2B4,GTF3C2-AS2 | c.1063C>G (p.Arg355Gly) c.*329C>G (n.*329C>G) c.637C>G c.1060C>G (p.Arg354Gly) c.1123C>G (p.Arg375Gly) n.2964C>G c.1126C>G (p.Arg376Gly) c.1054C>G (p.Arg352Gly) c.1018C>G (p.Arg340Gly) c.1015C>G (p.Arg339Gly) c.445C>G (p.Arg149Gly) n.1772-537G>C c.970C>G (p.Arg324Gly) c.478C>G (p.Arg160Gly) | |
2 | g.27366887G= | CA1240244555 | EIF2B4,GTF3C2-AS2 | c.1063C= (p.Arg355=) c.*329C= (n.*329C=) c.637C= c.1060C= (p.Arg354=) c.1123C= (p.Arg375=) n.2964C= c.1126C= (p.Arg376=) c.1054C= (p.Arg352=) c.1018C= (p.Arg340=) c.1015C= (p.Arg339=) c.445C= (p.Arg149=) n.1772-537G= c.970C= (p.Arg324=) c.478C= (p.Arg160=) | |
2 | g.27366887G>T | CA425606792 | EIF2B4,GTF3C2-AS2 | c.1063C>A (p.Arg355=) c.*329C>A (n.*329C>A) c.637C>A c.1060C>A (p.Arg354=) c.1123C>A (p.Arg375=) n.2964C>A c.1126C>A (p.Arg376=) c.1054C>A (p.Arg352=) c.1018C>A (p.Arg340=) c.1015C>A (p.Arg339=) c.445C>A (p.Arg149=) n.1772-537G>T c.970C>A (p.Arg324=) c.478C>A (p.Arg160=) | |
2 | g.27366888C>A | CA425606794 | EIF2B4,GTF3C2-AS2 | c.1062G>T (p.Arg354=) c.*328G>T (n.*328G>T) c.636G>T c.1059G>T (p.Arg353=) c.1122G>T (p.Arg374=) n.2963G>T c.1125G>T (p.Arg375=) c.1053G>T (p.Arg351=) c.1017G>T (p.Arg339=) c.1014G>T (p.Arg338=) c.444G>T (p.Arg148=) n.1772-536C>A c.969G>T (p.Arg323=) c.477G>T (p.Arg159=) | |
2 | g.27366888C>G | CA425606795 | EIF2B4,GTF3C2-AS2 | c.1062G>C (p.Arg354=) c.*328G>C (n.*328G>C) c.636G>C c.1059G>C (p.Arg353=) c.1122G>C (p.Arg374=) n.2963G>C c.1125G>C (p.Arg375=) c.1053G>C (p.Arg351=) c.1017G>C (p.Arg339=) c.1014G>C (p.Arg338=) c.444G>C (p.Arg148=) n.1772-536C>G c.969G>C (p.Arg323=) c.477G>C (p.Arg159=) | |
2 | g.27366888C>T | CA425606798 | EIF2B4,GTF3C2-AS2 | c.1062G>A (p.Arg354=) c.*328G>A (n.*328G>A) c.636G>A c.1059G>A (p.Arg353=) c.1122G>A (p.Arg374=) n.2963G>A c.1125G>A (p.Arg375=) c.1053G>A (p.Arg351=) c.1017G>A (p.Arg339=) c.1014G>A (p.Arg338=) c.444G>A (p.Arg148=) n.1772-536C>T c.969G>A (p.Arg323=) c.477G>A (p.Arg159=) | |
2 | g.27366889C>A | CA346198085 | EIF2B4,GTF3C2-AS2 | c.1061G>T (p.Arg354Leu) c.*327G>T (n.*327G>T) c.635G>T c.1058G>T (p.Arg353Leu) c.1121G>T (p.Arg374Leu) n.2962G>T c.1124G>T (p.Arg375Leu) c.1052G>T (p.Arg351Leu) c.1016G>T (p.Arg339Leu) c.1013G>T (p.Arg338Leu) c.443G>T (p.Arg148Leu) n.1772-535C>A c.968G>T (p.Arg323Leu) c.476G>T (p.Arg159Leu) | |
2 | g.27366889C= | CA1240244558 | EIF2B4,GTF3C2-AS2 | c.1061G= (p.Arg354=) c.*327G= (n.*327G=) c.635G= c.1058G= (p.Arg353=) c.1121G= (p.Arg374=) n.2962G= c.1124G= (p.Arg375=) c.1052G= (p.Arg351=) c.1016G= (p.Arg339=) c.1013G= (p.Arg338=) c.443G= (p.Arg148=) n.1772-535C= c.968G= (p.Arg323=) c.476G= (p.Arg159=) | |
2 | g.27366889C>G | CA346198087 | EIF2B4,GTF3C2-AS2 | c.1061G>C (p.Arg354Pro) c.*327G>C (n.*327G>C) c.635G>C c.1058G>C (p.Arg353Pro) c.1121G>C (p.Arg374Pro) n.2962G>C c.1124G>C (p.Arg375Pro) c.1052G>C (p.Arg351Pro) c.1016G>C (p.Arg339Pro) c.1013G>C (p.Arg338Pro) c.443G>C (p.Arg148Pro) n.1772-535C>G c.968G>C (p.Arg323Pro) c.476G>C (p.Arg159Pro) | |
2 | g.27366889C>T | CA1576664 | EIF2B4,GTF3C2-AS2 | c.1061G>A (p.Arg354Gln) c.*327G>A (n.*327G>A) c.635G>A c.1058G>A (p.Arg353Gln) c.1121G>A (p.Arg374Gln) n.2962G>A c.1124G>A (p.Arg375Gln) c.1052G>A (p.Arg351Gln) c.1016G>A (p.Arg339Gln) c.1013G>A (p.Arg338Gln) c.443G>A (p.Arg148Gln) n.1772-535C>T c.968G>A (p.Arg323Gln) c.476G>A (p.Arg159Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27366890G>A | CA1576665 | EIF2B4,GTF3C2-AS2 | c.1060C>T (p.Arg354Trp) c.*326C>T (n.*326C>T) c.634C>T c.1057C>T (p.Arg353Trp) c.1120C>T (p.Arg374Trp) n.2961C>T c.1123C>T (p.Arg375Trp) c.1051C>T (p.Arg351Trp) c.1015C>T (p.Arg339Trp) c.1012C>T (p.Arg338Trp) c.442C>T (p.Arg148Trp) n.1772-534G>A c.967C>T (p.Arg323Trp) c.475C>T (p.Arg159Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27366890G>C | CA346198091 | EIF2B4,GTF3C2-AS2 | c.1060C>G (p.Arg354Gly) c.*326C>G (n.*326C>G) c.634C>G c.1057C>G (p.Arg353Gly) c.1120C>G (p.Arg374Gly) n.2961C>G c.1123C>G (p.Arg375Gly) c.1051C>G (p.Arg351Gly) c.1015C>G (p.Arg339Gly) c.1012C>G (p.Arg338Gly) c.442C>G (p.Arg148Gly) n.1772-534G>C c.967C>G (p.Arg323Gly) c.475C>G (p.Arg159Gly) | |
2 | g.27366890G= | CA1240244564 | EIF2B4,GTF3C2-AS2 | c.1060C= (p.Arg354=) c.*326C= (n.*326C=) c.634C= c.1057C= (p.Arg353=) c.1120C= (p.Arg374=) n.2961C= c.1123C= (p.Arg375=) c.1051C= (p.Arg351=) c.1015C= (p.Arg339=) c.1012C= (p.Arg338=) c.442C= (p.Arg148=) n.1772-534G= c.967C= (p.Arg323=) c.475C= (p.Arg159=) | |
2 | g.27366890G>T | CA1576666 | EIF2B4,GTF3C2-AS2 | c.1060C>A (p.Arg354=) c.*326C>A (n.*326C>A) c.634C>A c.1057C>A (p.Arg353=) c.1120C>A (p.Arg374=) n.2961C>A c.1123C>A (p.Arg375=) c.1051C>A (p.Arg351=) c.1015C>A (p.Arg339=) c.1012C>A (p.Arg338=) c.442C>A (p.Arg148=) n.1772-534G>T c.967C>A (p.Arg323=) c.475C>A (p.Arg159=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27366891G>A | CA425606803 | EIF2B4,GTF3C2-AS2 | c.1059C>T (p.Gly353=) c.*325C>T (n.*325C>T) c.633C>T c.1056C>T (p.Gly352=) c.1119C>T (p.Gly373=) n.2960C>T c.1122C>T (p.Gly374=) c.1050C>T (p.Gly350=) c.1014C>T (p.Gly338=) c.1011C>T (p.Gly337=) c.441C>T (p.Gly147=) n.1772-533G>A c.966C>T (p.Gly322=) c.474C>T (p.Gly158=) | gnomAD v4 |
2 | g.27366891G>C | CA425606805 | EIF2B4,GTF3C2-AS2 | c.1059C>G (p.Gly353=) c.*325C>G (n.*325C>G) c.633C>G c.1056C>G (p.Gly352=) c.1119C>G (p.Gly373=) n.2960C>G c.1122C>G (p.Gly374=) c.1050C>G (p.Gly350=) c.1014C>G (p.Gly338=) c.1011C>G (p.Gly337=) c.441C>G (p.Gly147=) n.1772-533G>C c.966C>G (p.Gly322=) c.474C>G (p.Gly158=) | |
2 | g.27366891G>T | CA425606806 | EIF2B4,GTF3C2-AS2 | c.1059C>A (p.Gly353=) c.*325C>A (n.*325C>A) c.633C>A c.1056C>A (p.Gly352=) c.1119C>A (p.Gly373=) n.2960C>A c.1122C>A (p.Gly374=) c.1050C>A (p.Gly350=) c.1014C>A (p.Gly338=) c.1011C>A (p.Gly337=) c.441C>A (p.Gly147=) n.1772-533G>T c.966C>A (p.Gly322=) c.474C>A (p.Gly158=) | |
2 | g.27366892C>A | CA346198093 | EIF2B4,GTF3C2-AS2 | c.1058G>T (p.Gly353Val) c.*324G>T (n.*324G>T) c.632G>T c.1055G>T (p.Gly352Val) c.1118G>T (p.Gly373Val) n.2959G>T c.1121G>T (p.Gly374Val) c.1049G>T (p.Gly350Val) c.1013G>T (p.Gly338Val) c.1010G>T (p.Gly337Val) c.440G>T (p.Gly147Val) n.1772-532C>A c.965G>T (p.Gly322Val) c.473G>T (p.Gly158Val) | |
2 | g.27366892C>G | CA346198094 | EIF2B4,GTF3C2-AS2 | c.1058G>C (p.Gly353Ala) c.*324G>C (n.*324G>C) c.632G>C c.1055G>C (p.Gly352Ala) c.1118G>C (p.Gly373Ala) n.2959G>C c.1121G>C (p.Gly374Ala) c.1049G>C (p.Gly350Ala) c.1013G>C (p.Gly338Ala) c.1010G>C (p.Gly337Ala) c.440G>C (p.Gly147Ala) n.1772-532C>G c.965G>C (p.Gly322Ala) c.473G>C (p.Gly158Ala) | |
2 | g.27366892C>T | CA346198095 | EIF2B4,GTF3C2-AS2 | c.1058G>A (p.Gly353Asp) c.*324G>A (n.*324G>A) c.632G>A c.1055G>A (p.Gly352Asp) c.1118G>A (p.Gly373Asp) n.2959G>A c.1121G>A (p.Gly374Asp) c.1049G>A (p.Gly350Asp) c.1013G>A (p.Gly338Asp) c.1010G>A (p.Gly337Asp) c.440G>A (p.Gly147Asp) n.1772-532C>T c.965G>A (p.Gly322Asp) c.473G>A (p.Gly158Asp) | |
2 | g.27366893C>A | CA346198098 | EIF2B4,GTF3C2-AS2 | c.1057G>T (p.Gly353Cys) c.*323G>T (n.*323G>T) c.631G>T c.1054G>T (p.Gly352Cys) c.1117G>T (p.Gly373Cys) n.2958G>T c.1120G>T (p.Gly374Cys) c.1048G>T (p.Gly350Cys) c.1012G>T (p.Gly338Cys) c.1009G>T (p.Gly337Cys) c.439G>T (p.Gly147Cys) n.1772-531C>A c.964G>T (p.Gly322Cys) c.472G>T (p.Gly158Cys) | |
2 | g.27366893C= | CA1240244566 | EIF2B4,GTF3C2-AS2 | c.1057G= (p.Gly353=) c.*323G= (n.*323G=) c.631G= c.1054G= (p.Gly352=) c.1117G= (p.Gly373=) n.2958G= c.1120G= (p.Gly374=) c.1048G= (p.Gly350=) c.1012G= (p.Gly338=) c.1009G= (p.Gly337=) c.439G= (p.Gly147=) n.1772-531C= c.964G= (p.Gly322=) c.472G= (p.Gly158=) | |
2 | g.27366893C>G | CA346198099 | EIF2B4,GTF3C2-AS2 | c.1057G>C (p.Gly353Arg) c.*323G>C (n.*323G>C) c.631G>C c.1054G>C (p.Gly352Arg) c.1117G>C (p.Gly373Arg) n.2958G>C c.1120G>C (p.Gly374Arg) c.1048G>C (p.Gly350Arg) c.1012G>C (p.Gly338Arg) c.1009G>C (p.Gly337Arg) c.439G>C (p.Gly147Arg) n.1772-531C>G c.964G>C (p.Gly322Arg) c.472G>C (p.Gly158Arg) | |
2 | g.27366893C>T | CA1576667 | EIF2B4,GTF3C2-AS2 | c.1057G>A (p.Gly353Ser) c.*323G>A (n.*323G>A) c.631G>A c.1054G>A (p.Gly352Ser) c.1117G>A (p.Gly373Ser) n.2958G>A c.1120G>A (p.Gly374Ser) c.1048G>A (p.Gly350Ser) c.1012G>A (p.Gly338Ser) c.1009G>A (p.Gly337Ser) c.439G>A (p.Gly147Ser) n.1772-531C>T c.964G>A (p.Gly322Ser) c.472G>A (p.Gly158Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27366894C>A | CA346198101 | EIF2B4,GTF3C2-AS2 | c.1056G>T (p.Glu352Asp) c.*322G>T (n.*322G>T) c.630G>T c.1053G>T (p.Glu351Asp) c.1116G>T (p.Glu372Asp) n.2957G>T c.1119G>T (p.Glu373Asp) c.1047G>T (p.Glu349Asp) c.1011G>T (p.Glu337Asp) c.1008G>T (p.Glu336Asp) c.438G>T (p.Glu146Asp) n.1772-530C>A c.963G>T (p.Glu321Asp) c.471G>T (p.Glu157Asp) | |
2 | g.27366894C= | CA1240244570 | EIF2B4,GTF3C2-AS2 | c.1056G= (p.Glu352=) c.*322G= (n.*322G=) c.630G= c.1053G= (p.Glu351=) c.1116G= (p.Glu372=) n.2957G= c.1119G= (p.Glu373=) c.1047G= (p.Glu349=) c.1011G= (p.Glu337=) c.1008G= (p.Glu336=) c.438G= (p.Glu146=) n.1772-530C= c.963G= (p.Glu321=) c.471G= (p.Glu157=) | |
2 | g.27366894C>G | CA346198103 | EIF2B4,GTF3C2-AS2 | c.1056G>C (p.Glu352Asp) c.*322G>C (n.*322G>C) c.630G>C c.1053G>C (p.Glu351Asp) c.1116G>C (p.Glu372Asp) n.2957G>C c.1119G>C (p.Glu373Asp) c.1047G>C (p.Glu349Asp) c.1011G>C (p.Glu337Asp) c.1008G>C (p.Glu336Asp) c.438G>C (p.Glu146Asp) n.1772-530C>G c.963G>C (p.Glu321Asp) c.471G>C (p.Glu157Asp) | |
2 | g.27366894C>T | CA425606809 | EIF2B4,GTF3C2-AS2 | c.1056G>A (p.Glu352=) c.*322G>A (n.*322G>A) c.630G>A c.1053G>A (p.Glu351=) c.1116G>A (p.Glu372=) n.2957G>A c.1119G>A (p.Glu373=) c.1047G>A (p.Glu349=) c.1011G>A (p.Glu337=) c.1008G>A (p.Glu336=) c.438G>A (p.Glu146=) n.1772-530C>T c.963G>A (p.Glu321=) c.471G>A (p.Glu157=) | dbSNP gnomAD v4 |
2 | g.27366895T>A | CA346198105 | EIF2B4,GTF3C2-AS2 | c.1055A>T (p.Glu352Val) c.*321A>T (n.*321A>T) c.629A>T c.1052A>T (p.Glu351Val) c.1115A>T (p.Glu372Val) n.2956A>T c.1118A>T (p.Glu373Val) c.1046A>T (p.Glu349Val) c.1010A>T (p.Glu337Val) c.1007A>T (p.Glu336Val) c.437A>T (p.Glu146Val) n.1772-529T>A c.962A>T (p.Glu321Val) c.470A>T (p.Glu157Val) | |
2 | g.27366895T>C | CA346198107 | EIF2B4,GTF3C2-AS2 | c.1055A>G (p.Glu352Gly) c.*321A>G (n.*321A>G) c.629A>G c.1052A>G (p.Glu351Gly) c.1115A>G (p.Glu372Gly) n.2956A>G c.1118A>G (p.Glu373Gly) c.1046A>G (p.Glu349Gly) c.1010A>G (p.Glu337Gly) c.1007A>G (p.Glu336Gly) c.437A>G (p.Glu146Gly) n.1772-529T>C c.962A>G (p.Glu321Gly) c.470A>G (p.Glu157Gly) | |
2 | g.27366895T>G | CA346198109 | EIF2B4,GTF3C2-AS2 | c.1055A>C (p.Glu352Ala) c.*321A>C (n.*321A>C) c.629A>C c.1052A>C (p.Glu351Ala) c.1115A>C (p.Glu372Ala) n.2956A>C c.1118A>C (p.Glu373Ala) c.1046A>C (p.Glu349Ala) c.1010A>C (p.Glu337Ala) c.1007A>C (p.Glu336Ala) c.437A>C (p.Glu146Ala) n.1772-529T>G c.962A>C (p.Glu321Ala) c.470A>C (p.Glu157Ala) | |
2 | g.27366896C>A | CA346198113 | EIF2B4,GTF3C2-AS2 | c.1054G>T (p.Glu352Ter) c.*320G>T (n.*320G>T) c.628G>T c.1051G>T (p.Glu351Ter) c.1114G>T (p.Glu372Ter) n.2955G>T c.1117G>T (p.Glu373Ter) c.1045G>T (p.Glu349Ter) c.1009G>T (p.Glu337Ter) c.1006G>T (p.Glu336Ter) c.436G>T (p.Glu146Ter) n.1772-528C>A c.961G>T (p.Glu321Ter) c.469G>T (p.Glu157Ter) | |
2 | g.27366896C>G | CA346198112 | EIF2B4,GTF3C2-AS2 | c.1054G>C (p.Glu352Gln) c.*320G>C (n.*320G>C) c.628G>C c.1051G>C (p.Glu351Gln) c.1114G>C (p.Glu372Gln) n.2955G>C c.1117G>C (p.Glu373Gln) c.1045G>C (p.Glu349Gln) c.1009G>C (p.Glu337Gln) c.1006G>C (p.Glu336Gln) c.436G>C (p.Glu146Gln) n.1772-528C>G c.961G>C (p.Glu321Gln) c.469G>C (p.Glu157Gln) | |
2 | g.27366896C>T | CA346198110 | EIF2B4,GTF3C2-AS2 | c.1054G>A (p.Glu352Lys) c.*320G>A (n.*320G>A) c.628G>A c.1051G>A (p.Glu351Lys) c.1114G>A (p.Glu372Lys) n.2955G>A c.1117G>A (p.Glu373Lys) c.1045G>A (p.Glu349Lys) c.1009G>A (p.Glu337Lys) c.1006G>A (p.Glu336Lys) c.436G>A (p.Glu146Lys) n.1772-528C>T c.961G>A (p.Glu321Lys) c.469G>A (p.Glu157Lys) | gnomAD v4 |
2 | g.27366897T>A | CA425606815 | EIF2B4,GTF3C2-AS2 | c.1053A>T (p.Thr351=) c.*319A>T (n.*319A>T) c.627A>T c.1050A>T (p.Thr350=) c.1113A>T (p.Thr371=) n.2954A>T c.1116A>T (p.Thr372=) c.1044A>T (p.Thr348=) c.1008A>T (p.Thr336=) c.1005A>T (p.Thr335=) c.435A>T (p.Thr145=) n.1772-527T>A c.960A>T (p.Thr320=) c.468A>T (p.Thr156=) | |
2 | g.27366897T>C | CA425606816 | EIF2B4,GTF3C2-AS2 | c.1053A>G (p.Thr351=) c.*319A>G (n.*319A>G) c.627A>G c.1050A>G (p.Thr350=) c.1113A>G (p.Thr371=) n.2954A>G c.1116A>G (p.Thr372=) c.1044A>G (p.Thr348=) c.1008A>G (p.Thr336=) c.1005A>G (p.Thr335=) c.435A>G (p.Thr145=) n.1772-527T>C c.960A>G (p.Thr320=) c.468A>G (p.Thr156=) | |
2 | g.27366897T>G | CA425606817 | EIF2B4,GTF3C2-AS2 | c.1053A>C (p.Thr351=) c.*319A>C (n.*319A>C) c.627A>C c.1050A>C (p.Thr350=) c.1113A>C (p.Thr371=) n.2954A>C c.1116A>C (p.Thr372=) c.1044A>C (p.Thr348=) c.1008A>C (p.Thr336=) c.1005A>C (p.Thr335=) c.435A>C (p.Thr145=) n.1772-527T>G c.960A>C (p.Thr320=) c.468A>C (p.Thr156=) | |
2 | g.27366898G>A | CA1576668 | EIF2B4,GTF3C2-AS2 | c.1052C>T (p.Thr351Ile) c.*318C>T (n.*318C>T) c.626C>T c.1049C>T (p.Thr350Ile) c.1112C>T (p.Thr371Ile) n.2953C>T c.1115C>T (p.Thr372Ile) c.1043C>T (p.Thr348Ile) c.1007C>T (p.Thr336Ile) c.1004C>T (p.Thr335Ile) c.434C>T (p.Thr145Ile) n.1772-526G>A c.959C>T (p.Thr320Ile) c.467C>T (p.Thr156Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27366898G>C | CA44511533 | EIF2B4,GTF3C2-AS2 | c.1052C>G (p.Thr351Arg) c.*318C>G (n.*318C>G) c.626C>G c.1049C>G (p.Thr350Arg) c.1112C>G (p.Thr371Arg) n.2953C>G c.1115C>G (p.Thr372Arg) c.1043C>G (p.Thr348Arg) c.1007C>G (p.Thr336Arg) c.1004C>G (p.Thr335Arg) c.434C>G (p.Thr145Arg) n.1772-526G>C c.959C>G (p.Thr320Arg) c.467C>G (p.Thr156Arg) | dbSNP |
2 | g.27366898G= | CA1240244573 | EIF2B4,GTF3C2-AS2 | c.1052C= (p.Thr351=) c.*318C= (n.*318C=) c.626C= c.1049C= (p.Thr350=) c.1112C= (p.Thr371=) n.2953C= c.1115C= (p.Thr372=) c.1043C= (p.Thr348=) c.1007C= (p.Thr336=) c.1004C= (p.Thr335=) c.434C= (p.Thr145=) n.1772-526G= c.959C= (p.Thr320=) c.467C= (p.Thr156=) | |
2 | g.27366898G>T | CA346198117 | EIF2B4,GTF3C2-AS2 | c.1052C>A (p.Thr351Lys) c.*318C>A (n.*318C>A) c.626C>A c.1049C>A (p.Thr350Lys) c.1112C>A (p.Thr371Lys) n.2953C>A c.1115C>A (p.Thr372Lys) c.1043C>A (p.Thr348Lys) c.1007C>A (p.Thr336Lys) c.1004C>A (p.Thr335Lys) c.434C>A (p.Thr145Lys) n.1772-526G>T c.959C>A (p.Thr320Lys) c.467C>A (p.Thr156Lys) | |
2 | g.27366899T>A | CA346198118 | EIF2B4,GTF3C2-AS2 | c.1051A>T (p.Thr351Ser) c.*317A>T (n.*317A>T) c.625A>T c.1048A>T (p.Thr350Ser) c.1111A>T (p.Thr371Ser) n.2952A>T c.1114A>T (p.Thr372Ser) c.1042A>T (p.Thr348Ser) c.1006A>T (p.Thr336Ser) c.1003A>T (p.Thr335Ser) c.433A>T (p.Thr145Ser) n.1772-525T>A c.958A>T (p.Thr320Ser) c.466A>T (p.Thr156Ser) | |
2 | g.27366899T>C | CA346198119 | EIF2B4,GTF3C2-AS2 | c.1051A>G (p.Thr351Ala) c.*317A>G (n.*317A>G) c.625A>G c.1048A>G (p.Thr350Ala) c.1111A>G (p.Thr371Ala) n.2952A>G c.1114A>G (p.Thr372Ala) c.1042A>G (p.Thr348Ala) c.1006A>G (p.Thr336Ala) c.1003A>G (p.Thr335Ala) c.433A>G (p.Thr145Ala) n.1772-525T>C c.958A>G (p.Thr320Ala) c.466A>G (p.Thr156Ala) | |
2 | g.27366899T>G | CA346198121 | EIF2B4,GTF3C2-AS2 | c.1051A>C (p.Thr351Pro) c.*317A>C (n.*317A>C) c.625A>C c.1048A>C (p.Thr350Pro) c.1111A>C (p.Thr371Pro) n.2952A>C c.1114A>C (p.Thr372Pro) c.1042A>C (p.Thr348Pro) c.1006A>C (p.Thr336Pro) c.1003A>C (p.Thr335Pro) c.433A>C (p.Thr145Pro) n.1772-525T>G c.958A>C (p.Thr320Pro) c.466A>C (p.Thr156Pro) | |
2 | g.27366900C>A | CA1576669 | EIF2B4,GTF3C2-AS2 | c.1050G>T (p.Trp350Cys) c.*316G>T (n.*316G>T) c.624G>T c.1047G>T (p.Trp349Cys) c.1110G>T (p.Trp370Cys) n.2951G>T c.1113G>T (p.Trp371Cys) c.1041G>T (p.Trp347Cys) c.1005G>T (p.Trp335Cys) c.1002G>T (p.Trp334Cys) c.432G>T (p.Trp144Cys) n.1772-524C>A c.957G>T (p.Trp319Cys) c.465G>T (p.Trp155Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27366900C= | CA1240244579 | EIF2B4,GTF3C2-AS2 | c.1050G= (p.Trp350=) c.*316G= (n.*316G=) c.624G= c.1047G= (p.Trp349=) c.1110G= (p.Trp370=) n.2951G= c.1113G= (p.Trp371=) c.1041G= (p.Trp347=) c.1005G= (p.Trp335=) c.1002G= (p.Trp334=) c.432G= (p.Trp144=) n.1772-524C= c.957G= (p.Trp319=) c.465G= (p.Trp155=) | |
2 | g.27366900C>G | CA346198126 | EIF2B4,GTF3C2-AS2 | c.1050G>C (p.Trp350Cys) c.*316G>C (n.*316G>C) c.624G>C c.1047G>C (p.Trp349Cys) c.1110G>C (p.Trp370Cys) n.2951G>C c.1113G>C (p.Trp371Cys) c.1041G>C (p.Trp347Cys) c.1005G>C (p.Trp335Cys) c.1002G>C (p.Trp334Cys) c.432G>C (p.Trp144Cys) n.1772-524C>G c.957G>C (p.Trp319Cys) c.465G>C (p.Trp155Cys) | |
2 | g.27366900C>T | CA346198124 | EIF2B4,GTF3C2-AS2 | c.1050G>A (p.Trp350Ter) c.*316G>A (n.*316G>A) c.624G>A c.1047G>A (p.Trp349Ter) c.1110G>A (p.Trp370Ter) n.2951G>A c.1113G>A (p.Trp371Ter) c.1041G>A (p.Trp347Ter) c.1005G>A (p.Trp335Ter) c.1002G>A (p.Trp334Ter) c.432G>A (p.Trp144Ter) n.1772-524C>T c.957G>A (p.Trp319Ter) c.465G>A (p.Trp155Ter) | |
2 | g.27366901C>A | CA346198127 | EIF2B4,GTF3C2-AS2 | c.1049G>T (p.Trp350Leu) c.*315G>T (n.*315G>T) c.623G>T c.1046G>T (p.Trp349Leu) c.1109G>T (p.Trp370Leu) n.2950G>T c.1112G>T (p.Trp371Leu) c.1040G>T (p.Trp347Leu) c.1004G>T (p.Trp335Leu) c.1001G>T (p.Trp334Leu) c.431G>T (p.Trp144Leu) n.1772-523C>A c.956G>T (p.Trp319Leu) c.464G>T (p.Trp155Leu) | |
2 | g.27366901C>G | CA346198128 | EIF2B4,GTF3C2-AS2 | c.1049G>C (p.Trp350Ser) c.*315G>C (n.*315G>C) c.623G>C c.1046G>C (p.Trp349Ser) c.1109G>C (p.Trp370Ser) n.2950G>C c.1112G>C (p.Trp371Ser) c.1040G>C (p.Trp347Ser) c.1004G>C (p.Trp335Ser) c.1001G>C (p.Trp334Ser) c.431G>C (p.Trp144Ser) n.1772-523C>G c.956G>C (p.Trp319Ser) c.464G>C (p.Trp155Ser) | |
2 | g.27366901C>T | CA346198130 | EIF2B4,GTF3C2-AS2 | c.1049G>A (p.Trp350Ter) c.*315G>A (n.*315G>A) c.623G>A c.1046G>A (p.Trp349Ter) c.1109G>A (p.Trp370Ter) n.2950G>A c.1112G>A (p.Trp371Ter) c.1040G>A (p.Trp347Ter) c.1004G>A (p.Trp335Ter) c.1001G>A (p.Trp334Ter) c.431G>A (p.Trp144Ter) n.1772-523C>T c.956G>A (p.Trp319Ter) c.464G>A (p.Trp155Ter) | |
2 | g.27366902A= | CA1240244581 | EIF2B4,GTF3C2-AS2 | c.1048T= (p.Trp350=) c.*314T= (n.*314T=) c.622T= c.1045T= (p.Trp349=) c.1108T= (p.Trp370=) n.2949T= c.1111T= (p.Trp371=) c.1039T= (p.Trp347=) c.1003T= (p.Trp335=) c.1000T= (p.Trp334=) c.430T= (p.Trp144=) n.1772-522A= c.955T= (p.Trp319=) c.463T= (p.Trp155=) | |
2 | g.27366902A>C | CA346198131 | EIF2B4,GTF3C2-AS2 | c.1048T>G (p.Trp350Gly) c.*314T>G (n.*314T>G) c.622T>G c.1045T>G (p.Trp349Gly) c.1108T>G (p.Trp370Gly) n.2949T>G c.1111T>G (p.Trp371Gly) c.1039T>G (p.Trp347Gly) c.1003T>G (p.Trp335Gly) c.1000T>G (p.Trp334Gly) c.430T>G (p.Trp144Gly) n.1772-522A>C c.955T>G (p.Trp319Gly) c.463T>G (p.Trp155Gly) | |
2 | g.27366902A>G | CA346198133 | EIF2B4,GTF3C2-AS2 | c.1048T>C (p.Trp350Arg) c.*314T>C (n.*314T>C) c.622T>C c.1045T>C (p.Trp349Arg) c.1108T>C (p.Trp370Arg) n.2949T>C c.1111T>C (p.Trp371Arg) c.1039T>C (p.Trp347Arg) c.1003T>C (p.Trp335Arg) c.1000T>C (p.Trp334Arg) c.430T>C (p.Trp144Arg) n.1772-522A>G c.955T>C (p.Trp319Arg) c.463T>C (p.Trp155Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27366902A>T | CA346198135 | EIF2B4,GTF3C2-AS2 | c.1048T>A (p.Trp350Arg) c.*314T>A (n.*314T>A) c.622T>A c.1045T>A (p.Trp349Arg) c.1108T>A (p.Trp370Arg) n.2949T>A c.1111T>A (p.Trp371Arg) c.1039T>A (p.Trp347Arg) c.1003T>A (p.Trp335Arg) c.1000T>A (p.Trp334Arg) c.430T>A (p.Trp144Arg) n.1772-522A>T c.955T>A (p.Trp319Arg) c.463T>A (p.Trp155Arg) | |
2 | g.27366903A>C | CA425606825 | EIF2B4,GTF3C2-AS2 | c.1047T>G (p.Ala349=) c.*313T>G (n.*313T>G) c.621T>G c.1044T>G (p.Ala348=) c.1107T>G (p.Ala369=) n.2948T>G c.1110T>G (p.Ala370=) c.1038T>G (p.Ala346=) c.1002T>G (p.Ala334=) c.999T>G (p.Ala333=) c.429T>G (p.Ala143=) n.1772-521A>C c.954T>G (p.Ala318=) c.462T>G (p.Ala154=) | |
2 | g.27366903A>G | CA425606826 | EIF2B4,GTF3C2-AS2 | c.1047T>C (p.Ala349=) c.*313T>C (n.*313T>C) c.621T>C c.1044T>C (p.Ala348=) c.1107T>C (p.Ala369=) n.2948T>C c.1110T>C (p.Ala370=) c.1038T>C (p.Ala346=) c.1002T>C (p.Ala334=) c.999T>C (p.Ala333=) c.429T>C (p.Ala143=) n.1772-521A>G c.954T>C (p.Ala318=) c.462T>C (p.Ala154=) | |
2 | g.27366903A>T | CA425606827 | EIF2B4,GTF3C2-AS2 | c.1047T>A (p.Ala349=) c.*313T>A (n.*313T>A) c.621T>A c.1044T>A (p.Ala348=) c.1107T>A (p.Ala369=) n.2948T>A c.1110T>A (p.Ala370=) c.1038T>A (p.Ala346=) c.1002T>A (p.Ala334=) c.999T>A (p.Ala333=) c.429T>A (p.Ala143=) n.1772-521A>T c.954T>A (p.Ala318=) c.462T>A (p.Ala154=) | |
2 | g.27366904G>A | CA346198138 | EIF2B4,GTF3C2-AS2 | c.1046C>T (p.Ala349Val) c.*312C>T (n.*312C>T) c.620C>T c.1043C>T (p.Ala348Val) c.1106C>T (p.Ala369Val) n.2947C>T c.1109C>T (p.Ala370Val) c.1037C>T (p.Ala346Val) c.1001C>T (p.Ala334Val) c.998C>T (p.Ala333Val) c.428C>T (p.Ala143Val) n.1772-520G>A c.953C>T (p.Ala318Val) c.461C>T (p.Ala154Val) | |
2 | g.27366904G>C | CA346198140 | EIF2B4,GTF3C2-AS2 | c.1046C>G (p.Ala349Gly) c.*312C>G (n.*312C>G) c.620C>G c.1043C>G (p.Ala348Gly) c.1106C>G (p.Ala369Gly) n.2947C>G c.1109C>G (p.Ala370Gly) c.1037C>G (p.Ala346Gly) c.1001C>G (p.Ala334Gly) c.998C>G (p.Ala333Gly) c.428C>G (p.Ala143Gly) n.1772-520G>C c.953C>G (p.Ala318Gly) c.461C>G (p.Ala154Gly) | |
2 | g.27366904G>T | CA346198141 | EIF2B4,GTF3C2-AS2 | c.1046C>A (p.Ala349Asp) c.*312C>A (n.*312C>A) c.620C>A c.1043C>A (p.Ala348Asp) c.1106C>A (p.Ala369Asp) n.2947C>A c.1109C>A (p.Ala370Asp) c.1037C>A (p.Ala346Asp) c.1001C>A (p.Ala334Asp) c.998C>A (p.Ala333Asp) c.428C>A (p.Ala143Asp) n.1772-520G>T c.953C>A (p.Ala318Asp) c.461C>A (p.Ala154Asp) | |
2 | g.27366905C>A | CA346198143 | EIF2B4,GTF3C2-AS2 | c.1045G>T (p.Ala349Ser) c.*311G>T (n.*311G>T) c.619G>T c.1042G>T (p.Ala348Ser) c.1105G>T (p.Ala369Ser) n.2946G>T c.1108G>T (p.Ala370Ser) c.1036G>T (p.Ala346Ser) c.1000G>T (p.Ala334Ser) c.997G>T (p.Ala333Ser) c.427G>T (p.Ala143Ser) n.1772-519C>A c.952G>T (p.Ala318Ser) c.460G>T (p.Ala154Ser) | gnomAD v4 |
2 | g.27366905C>G | CA346198145 | EIF2B4,GTF3C2-AS2 | c.1045G>C (p.Ala349Pro) c.*311G>C (n.*311G>C) c.619G>C c.1042G>C (p.Ala348Pro) c.1105G>C (p.Ala369Pro) n.2946G>C c.1108G>C (p.Ala370Pro) c.1036G>C (p.Ala346Pro) c.1000G>C (p.Ala334Pro) c.997G>C (p.Ala333Pro) c.427G>C (p.Ala143Pro) n.1772-519C>G c.952G>C (p.Ala318Pro) c.460G>C (p.Ala154Pro) | |
2 | g.27366905C>T | CA346198146 | EIF2B4,GTF3C2-AS2 | c.1045G>A (p.Ala349Thr) c.*311G>A (n.*311G>A) c.619G>A c.1042G>A (p.Ala348Thr) c.1105G>A (p.Ala369Thr) n.2946G>A c.1108G>A (p.Ala370Thr) c.1036G>A (p.Ala346Thr) c.1000G>A (p.Ala334Thr) c.997G>A (p.Ala333Thr) c.427G>A (p.Ala143Thr) n.1772-519C>T c.952G>A (p.Ala318Thr) c.460G>A (p.Ala154Thr) | gnomAD v4 |
2 | g.27366906C>A | CA346198148 | EIF2B4,GTF3C2-AS2 | c.1044G>T (p.Glu348Asp) c.*310G>T (n.*310G>T) c.618G>T c.1041G>T (p.Glu347Asp) c.1104G>T (p.Glu368Asp) n.2945G>T c.1107G>T (p.Glu369Asp) c.1035G>T (p.Glu345Asp) c.999G>T (p.Glu333Asp) c.996G>T (p.Glu332Asp) c.426G>T (p.Glu142Asp) n.1772-518C>A c.951G>T (p.Glu317Asp) c.459G>T (p.Glu153Asp) | |
2 | g.27366906C>G | CA346198149 | EIF2B4,GTF3C2-AS2 | c.1044G>C (p.Glu348Asp) c.*310G>C (n.*310G>C) c.618G>C c.1041G>C (p.Glu347Asp) c.1104G>C (p.Glu368Asp) n.2945G>C c.1107G>C (p.Glu369Asp) c.1035G>C (p.Glu345Asp) c.999G>C (p.Glu333Asp) c.996G>C (p.Glu332Asp) c.426G>C (p.Glu142Asp) n.1772-518C>G c.951G>C (p.Glu317Asp) c.459G>C (p.Glu153Asp) | |
2 | g.27366906C>T | CA425606829 | EIF2B4,GTF3C2-AS2 | c.1044G>A (p.Glu348=) c.*310G>A (n.*310G>A) c.618G>A c.1041G>A (p.Glu347=) c.1104G>A (p.Glu368=) n.2945G>A c.1107G>A (p.Glu369=) c.1035G>A (p.Glu345=) c.999G>A (p.Glu333=) c.996G>A (p.Glu332=) c.426G>A (p.Glu142=) n.1772-518C>T c.951G>A (p.Glu317=) c.459G>A (p.Glu153=) | gnomAD v4 |
2 | g.27366907T>A | CA346198151 | EIF2B4,GTF3C2-AS2 | c.1043A>T (p.Glu348Val) c.*309A>T (n.*309A>T) c.617A>T c.1040A>T (p.Glu347Val) c.1103A>T (p.Glu368Val) n.2944A>T c.1106A>T (p.Glu369Val) c.1034A>T (p.Glu345Val) c.998A>T (p.Glu333Val) c.995A>T (p.Glu332Val) c.425A>T (p.Glu142Val) n.1772-517T>A c.950A>T (p.Glu317Val) c.458A>T (p.Glu153Val) | |
2 | g.27366907T>C | CA346198154 | EIF2B4,GTF3C2-AS2 | c.1043A>G (p.Glu348Gly) c.*309A>G (n.*309A>G) c.617A>G c.1040A>G (p.Glu347Gly) c.1103A>G (p.Glu368Gly) n.2944A>G c.1106A>G (p.Glu369Gly) c.1034A>G (p.Glu345Gly) c.998A>G (p.Glu333Gly) c.995A>G (p.Glu332Gly) c.425A>G (p.Glu142Gly) n.1772-517T>C c.950A>G (p.Glu317Gly) c.458A>G (p.Glu153Gly) | |
2 | g.27366907T>G | CA346198153 | EIF2B4,GTF3C2-AS2 | c.1043A>C (p.Glu348Ala) c.*309A>C (n.*309A>C) c.617A>C c.1040A>C (p.Glu347Ala) c.1103A>C (p.Glu368Ala) n.2944A>C c.1106A>C (p.Glu369Ala) c.1034A>C (p.Glu345Ala) c.998A>C (p.Glu333Ala) c.995A>C (p.Glu332Ala) c.425A>C (p.Glu142Ala) n.1772-517T>G c.950A>C (p.Glu317Ala) c.458A>C (p.Glu153Ala) | gnomAD v4 |
2 | g.27366908C>A | CA346198155 | EIF2B4,GTF3C2-AS2 | c.1042G>T (p.Glu348Ter) c.*308G>T (n.*308G>T) c.616G>T c.1039G>T (p.Glu347Ter) c.1102G>T (p.Glu368Ter) n.2943G>T c.1105G>T (p.Glu369Ter) c.1033G>T (p.Glu345Ter) c.997G>T (p.Glu333Ter) c.994G>T (p.Glu332Ter) c.424G>T (p.Glu142Ter) n.1772-516C>A c.949G>T (p.Glu317Ter) c.457G>T (p.Glu153Ter) | |
2 | g.27366908C>G | CA346198157 | EIF2B4,GTF3C2-AS2 | c.1042G>C (p.Glu348Gln) c.*308G>C (n.*308G>C) c.616G>C c.1039G>C (p.Glu347Gln) c.1102G>C (p.Glu368Gln) n.2943G>C c.1105G>C (p.Glu369Gln) c.1033G>C (p.Glu345Gln) c.997G>C (p.Glu333Gln) c.994G>C (p.Glu332Gln) c.424G>C (p.Glu142Gln) n.1772-516C>G c.949G>C (p.Glu317Gln) c.457G>C (p.Glu153Gln) | |
2 | g.27366908C>T | CA346198158 | EIF2B4,GTF3C2-AS2 | c.1042G>A (p.Glu348Lys) c.*308G>A (n.*308G>A) c.616G>A c.1039G>A (p.Glu347Lys) c.1102G>A (p.Glu368Lys) n.2943G>A c.1105G>A (p.Glu369Lys) c.1033G>A (p.Glu345Lys) c.997G>A (p.Glu333Lys) c.994G>A (p.Glu332Lys) c.424G>A (p.Glu142Lys) n.1772-516C>T c.949G>A (p.Glu317Lys) c.457G>A (p.Glu153Lys) | gnomAD v4 |
2 | g.27366909C>A | CA346198160 | EIF2B4,GTF3C2-AS2 | c.1041G>T (p.Gln347His) c.*307G>T (n.*307G>T) c.615G>T c.1038G>T (p.Gln346His) c.1101G>T (p.Gln367His) n.2942G>T c.1104G>T (p.Gln368His) c.1032G>T (p.Gln344His) c.996G>T (p.Gln332His) c.993G>T (p.Gln331His) c.423G>T (p.Gln141His) n.1772-515C>A c.948G>T (p.Gln316His) c.456G>T (p.Gln152His) | |
2 | g.27366909C= | CA1240244586 | EIF2B4,GTF3C2-AS2 | c.1041G= (p.Gln347=) c.*307G= (n.*307G=) c.615G= c.1038G= (p.Gln346=) c.1101G= (p.Gln367=) n.2942G= c.1104G= (p.Gln368=) c.1032G= (p.Gln344=) c.996G= (p.Gln332=) c.993G= (p.Gln331=) c.423G= (p.Gln141=) n.1772-515C= c.948G= (p.Gln316=) c.456G= (p.Gln152=) | |
2 | g.27366909C>G | CA346198161 | EIF2B4,GTF3C2-AS2 | c.1041G>C (p.Gln347His) c.*307G>C (n.*307G>C) c.615G>C c.1038G>C (p.Gln346His) c.1101G>C (p.Gln367His) n.2942G>C c.1104G>C (p.Gln368His) c.1032G>C (p.Gln344His) c.996G>C (p.Gln332His) c.993G>C (p.Gln331His) c.423G>C (p.Gln141His) n.1772-515C>G c.948G>C (p.Gln316His) c.456G>C (p.Gln152His) | |
2 | g.27366909C>T | CA44511537 | EIF2B4,GTF3C2-AS2 | c.1041G>A (p.Gln347=) c.*307G>A (n.*307G>A) c.615G>A c.1038G>A (p.Gln346=) c.1101G>A (p.Gln367=) n.2942G>A c.1104G>A (p.Gln368=) c.1032G>A (p.Gln344=) c.996G>A (p.Gln332=) c.993G>A (p.Gln331=) c.423G>A (p.Gln141=) n.1772-515C>T c.948G>A (p.Gln316=) c.456G>A (p.Gln152=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.27366910T>A | CA346198163 | EIF2B4,GTF3C2-AS2 | c.1040A>T (p.Gln347Leu) c.*306A>T (n.*306A>T) c.614A>T c.1037A>T (p.Gln346Leu) c.1100A>T (p.Gln367Leu) n.2941A>T c.1103A>T (p.Gln368Leu) c.1031A>T (p.Gln344Leu) c.995A>T (p.Gln332Leu) c.992A>T (p.Gln331Leu) c.422A>T (p.Gln141Leu) n.1772-514T>A c.947A>T (p.Gln316Leu) c.455A>T (p.Gln152Leu) | |
2 | g.27366910T>C | CA346198164 | EIF2B4,GTF3C2-AS2 | c.1040A>G (p.Gln347Arg) c.*306A>G (n.*306A>G) c.614A>G c.1037A>G (p.Gln346Arg) c.1100A>G (p.Gln367Arg) n.2941A>G c.1103A>G (p.Gln368Arg) c.1031A>G (p.Gln344Arg) c.995A>G (p.Gln332Arg) c.992A>G (p.Gln331Arg) c.422A>G (p.Gln141Arg) n.1772-514T>C c.947A>G (p.Gln316Arg) c.455A>G (p.Gln152Arg) | |
2 | g.27366910T>G | CA346198165 | EIF2B4,GTF3C2-AS2 | c.1040A>C (p.Gln347Pro) c.*306A>C (n.*306A>C) c.614A>C c.1037A>C (p.Gln346Pro) c.1100A>C (p.Gln367Pro) n.2941A>C c.1103A>C (p.Gln368Pro) c.1031A>C (p.Gln344Pro) c.995A>C (p.Gln332Pro) c.992A>C (p.Gln331Pro) c.422A>C (p.Gln141Pro) n.1772-514T>G c.947A>C (p.Gln316Pro) c.455A>C (p.Gln152Pro) | |
2 | g.27366911G>A | CA346198167 | EIF2B4,GTF3C2-AS2 | c.1039C>T (p.Gln347Ter) c.*305C>T (n.*305C>T) c.613C>T c.1036C>T (p.Gln346Ter) c.1099C>T (p.Gln367Ter) n.2940C>T c.1102C>T (p.Gln368Ter) c.1030C>T (p.Gln344Ter) c.994C>T (p.Gln332Ter) c.991C>T (p.Gln331Ter) c.421C>T (p.Gln141Ter) n.1772-513G>A c.946C>T (p.Gln316Ter) c.454C>T (p.Gln152Ter) | |
2 | g.27366911G>C | CA346198169 | EIF2B4,GTF3C2-AS2 | c.1039C>G (p.Gln347Glu) c.*305C>G (n.*305C>G) c.613C>G c.1036C>G (p.Gln346Glu) c.1099C>G (p.Gln367Glu) n.2940C>G c.1102C>G (p.Gln368Glu) c.1030C>G (p.Gln344Glu) c.994C>G (p.Gln332Glu) c.991C>G (p.Gln331Glu) c.421C>G (p.Gln141Glu) n.1772-513G>C c.946C>G (p.Gln316Glu) c.454C>G (p.Gln152Glu) | |
2 | g.27366911G>T | CA346198171 | EIF2B4,GTF3C2-AS2 | c.1039C>A (p.Gln347Lys) c.*305C>A (n.*305C>A) c.613C>A c.1036C>A (p.Gln346Lys) c.1099C>A (p.Gln367Lys) n.2940C>A c.1102C>A (p.Gln368Lys) c.1030C>A (p.Gln344Lys) c.994C>A (p.Gln332Lys) c.991C>A (p.Gln331Lys) c.421C>A (p.Gln141Lys) n.1772-513G>T c.946C>A (p.Gln316Lys) c.454C>A (p.Gln152Lys) | |
2 | g.27366912A>C | CA425606837 | EIF2B4,GTF3C2-AS2 | c.1038T>G (p.Leu346=) c.*304T>G (n.*304T>G) c.612T>G c.1035T>G (p.Leu345=) c.1098T>G (p.Leu366=) n.2939T>G c.1101T>G (p.Leu367=) c.1029T>G (p.Leu343=) c.993T>G (p.Leu331=) c.990T>G (p.Leu330=) c.420T>G (p.Leu140=) n.1772-512A>C c.945T>G (p.Leu315=) c.453T>G (p.Leu151=) | |
2 | g.27366912A>G | CA425606838 | EIF2B4,GTF3C2-AS2 | c.1038T>C (p.Leu346=) c.*304T>C (n.*304T>C) c.612T>C c.1035T>C (p.Leu345=) c.1098T>C (p.Leu366=) n.2939T>C c.1101T>C (p.Leu367=) c.1029T>C (p.Leu343=) c.993T>C (p.Leu331=) c.990T>C (p.Leu330=) c.420T>C (p.Leu140=) n.1772-512A>G c.945T>C (p.Leu315=) c.453T>C (p.Leu151=) | |
2 | g.27366912A>T | CA425606839 | EIF2B4,GTF3C2-AS2 | c.1038T>A (p.Leu346=) c.*304T>A (n.*304T>A) c.612T>A c.1035T>A (p.Leu345=) c.1098T>A (p.Leu366=) n.2939T>A c.1101T>A (p.Leu367=) c.1029T>A (p.Leu343=) c.993T>A (p.Leu331=) c.990T>A (p.Leu330=) c.420T>A (p.Leu140=) n.1772-512A>T c.945T>A (p.Leu315=) c.453T>A (p.Leu151=) | |
2 | g.27366913A>C | CA346198172 | EIF2B4,GTF3C2-AS2 | c.1037T>G (p.Leu346Arg) c.*303T>G (n.*303T>G) c.611T>G c.1034T>G (p.Leu345Arg) c.1097T>G (p.Leu366Arg) n.2938T>G c.1100T>G (p.Leu367Arg) c.1028T>G (p.Leu343Arg) c.992T>G (p.Leu331Arg) c.989T>G (p.Leu330Arg) c.419T>G (p.Leu140Arg) n.1772-511A>C c.944T>G (p.Leu315Arg) c.452T>G (p.Leu151Arg) | |
2 | g.27366913A>G | CA346198175 | EIF2B4,GTF3C2-AS2 | c.1037T>C (p.Leu346Pro) c.*303T>C (n.*303T>C) c.611T>C c.1034T>C (p.Leu345Pro) c.1097T>C (p.Leu366Pro) n.2938T>C c.1100T>C (p.Leu367Pro) c.1028T>C (p.Leu343Pro) c.992T>C (p.Leu331Pro) c.989T>C (p.Leu330Pro) c.419T>C (p.Leu140Pro) n.1772-511A>G c.944T>C (p.Leu315Pro) c.452T>C (p.Leu151Pro) | |
2 | g.27366913A>T | CA346198174 | EIF2B4,GTF3C2-AS2 | c.1037T>A (p.Leu346His) c.*303T>A (n.*303T>A) c.611T>A c.1034T>A (p.Leu345His) c.1097T>A (p.Leu366His) n.2938T>A c.1100T>A (p.Leu367His) c.1028T>A (p.Leu343His) c.992T>A (p.Leu331His) c.989T>A (p.Leu330His) c.419T>A (p.Leu140His) n.1772-511A>T c.944T>A (p.Leu315His) c.452T>A (p.Leu151His) | |
2 | g.27366914G>A | CA346198177 | EIF2B4,GTF3C2-AS2 | c.1036C>T (p.Leu346Phe) c.*302C>T (n.*302C>T) c.610C>T c.1033C>T (p.Leu345Phe) c.1096C>T (p.Leu366Phe) n.2937C>T c.1099C>T (p.Leu367Phe) c.1027C>T (p.Leu343Phe) c.991C>T (p.Leu331Phe) c.988C>T (p.Leu330Phe) c.418C>T (p.Leu140Phe) n.1772-510G>A c.943C>T (p.Leu315Phe) c.451C>T (p.Leu151Phe) | |
2 | g.27366914G>C | CA346198178 | EIF2B4,GTF3C2-AS2 | c.1036C>G (p.Leu346Val) c.*302C>G (n.*302C>G) c.610C>G c.1033C>G (p.Leu345Val) c.1096C>G (p.Leu366Val) n.2937C>G c.1099C>G (p.Leu367Val) c.1027C>G (p.Leu343Val) c.991C>G (p.Leu331Val) c.988C>G (p.Leu330Val) c.418C>G (p.Leu140Val) n.1772-510G>C c.943C>G (p.Leu315Val) c.451C>G (p.Leu151Val) | |
2 | g.27366914G>T | CA346198180 | EIF2B4,GTF3C2-AS2 | c.1036C>A (p.Leu346Ile) c.*302C>A (n.*302C>A) c.610C>A c.1033C>A (p.Leu345Ile) c.1096C>A (p.Leu366Ile) n.2937C>A c.1099C>A (p.Leu367Ile) c.1027C>A (p.Leu343Ile) c.991C>A (p.Leu331Ile) c.988C>A (p.Leu330Ile) c.418C>A (p.Leu140Ile) n.1772-510G>T c.943C>A (p.Leu315Ile) c.451C>A (p.Leu151Ile) | |
2 | g.27366915A= | CA1240244588 | EIF2B4,GTF3C2-AS2 | c.1035T= (p.Ile345=) c.*301T= (n.*301T=) c.609T= c.1032T= (p.Ile344=) c.1095T= (p.Ile365=) n.2936T= c.1098T= (p.Ile366=) c.1026T= (p.Ile342=) c.990T= (p.Ile330=) c.987T= (p.Ile329=) c.417T= (p.Ile139=) n.1772-509A= c.942T= (p.Ile314=) c.450T= (p.Ile150=) | |
2 | g.27366915A>C | CA346198182 | EIF2B4,GTF3C2-AS2 | c.1035T>G (p.Ile345Met) c.*301T>G (n.*301T>G) c.609T>G c.1032T>G (p.Ile344Met) c.1095T>G (p.Ile365Met) n.2936T>G c.1098T>G (p.Ile366Met) c.1026T>G (p.Ile342Met) c.990T>G (p.Ile330Met) c.987T>G (p.Ile329Met) c.417T>G (p.Ile139Met) n.1772-509A>C c.942T>G (p.Ile314Met) c.450T>G (p.Ile150Met) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27366915A>G | CA425606842 | EIF2B4,GTF3C2-AS2 | c.1035T>C (p.Ile345=) c.*301T>C (n.*301T>C) c.609T>C c.1032T>C (p.Ile344=) c.1095T>C (p.Ile365=) n.2936T>C c.1098T>C (p.Ile366=) c.1026T>C (p.Ile342=) c.990T>C (p.Ile330=) c.987T>C (p.Ile329=) c.417T>C (p.Ile139=) n.1772-509A>G c.942T>C (p.Ile314=) c.450T>C (p.Ile150=) | ClinVar |
2 | g.27366915A>T | CA425606844 | EIF2B4,GTF3C2-AS2 | c.1035T>A (p.Ile345=) c.*301T>A (n.*301T>A) c.609T>A c.1032T>A (p.Ile344=) c.1095T>A (p.Ile365=) n.2936T>A c.1098T>A (p.Ile366=) c.1026T>A (p.Ile342=) c.990T>A (p.Ile330=) c.987T>A (p.Ile329=) c.417T>A (p.Ile139=) n.1772-509A>T c.942T>A (p.Ile314=) c.450T>A (p.Ile150=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27366916A>C | CA346198183 | EIF2B4,GTF3C2-AS2 | c.1034T>G (p.Ile345Ser) c.*300T>G (n.*300T>G) c.608T>G c.1031T>G (p.Ile344Ser) c.1094T>G (p.Ile365Ser) n.2935T>G c.1097T>G (p.Ile366Ser) c.1025T>G (p.Ile342Ser) c.989T>G (p.Ile330Ser) c.986T>G (p.Ile329Ser) c.416T>G (p.Ile139Ser) n.1772-508A>C c.941T>G (p.Ile314Ser) c.449T>G (p.Ile150Ser) | |
2 | g.27366916A>G | CA346198184 | EIF2B4,GTF3C2-AS2 | c.1034T>C (p.Ile345Thr) c.*300T>C (n.*300T>C) c.608T>C c.1031T>C (p.Ile344Thr) c.1094T>C (p.Ile365Thr) n.2935T>C c.1097T>C (p.Ile366Thr) c.1025T>C (p.Ile342Thr) c.989T>C (p.Ile330Thr) c.986T>C (p.Ile329Thr) c.416T>C (p.Ile139Thr) n.1772-508A>G c.941T>C (p.Ile314Thr) c.449T>C (p.Ile150Thr) | |
2 | g.27366916A>T | CA346198185 | EIF2B4,GTF3C2-AS2 | c.1034T>A (p.Ile345Asn) c.*300T>A (n.*300T>A) c.608T>A c.1031T>A (p.Ile344Asn) c.1094T>A (p.Ile365Asn) n.2935T>A c.1097T>A (p.Ile366Asn) c.1025T>A (p.Ile342Asn) c.989T>A (p.Ile330Asn) c.986T>A (p.Ile329Asn) c.416T>A (p.Ile139Asn) n.1772-508A>T c.941T>A (p.Ile314Asn) c.449T>A (p.Ile150Asn) | |
2 | g.27366917T>A | CA346198187 | EIF2B4,GTF3C2-AS2 | c.1033A>T (p.Ile345Phe) c.*299A>T (n.*299A>T) c.607A>T c.1030A>T (p.Ile344Phe) c.1093A>T (p.Ile365Phe) n.2934A>T c.1096A>T (p.Ile366Phe) c.1024A>T (p.Ile342Phe) c.988A>T (p.Ile330Phe) c.985A>T (p.Ile329Phe) c.415A>T (p.Ile139Phe) n.1772-507T>A c.940A>T (p.Ile314Phe) c.448A>T (p.Ile150Phe) | |
2 | g.27366917T>C | CA346198189 | EIF2B4,GTF3C2-AS2 | c.1033A>G (p.Ile345Val) c.*299A>G (n.*299A>G) c.607A>G c.1030A>G (p.Ile344Val) c.1093A>G (p.Ile365Val) n.2934A>G c.1096A>G (p.Ile366Val) c.1024A>G (p.Ile342Val) c.988A>G (p.Ile330Val) c.985A>G (p.Ile329Val) c.415A>G (p.Ile139Val) n.1772-507T>C c.940A>G (p.Ile314Val) c.448A>G (p.Ile150Val) | dbSNP gnomAD v4 |
2 | g.27366917T>G | CA346198191 | EIF2B4,GTF3C2-AS2 | c.1033A>C (p.Ile345Leu) c.*299A>C (n.*299A>C) c.607A>C c.1030A>C (p.Ile344Leu) c.1093A>C (p.Ile365Leu) n.2934A>C c.1096A>C (p.Ile366Leu) c.1024A>C (p.Ile342Leu) c.988A>C (p.Ile330Leu) c.985A>C (p.Ile329Leu) c.415A>C (p.Ile139Leu) n.1772-507T>G c.940A>C (p.Ile314Leu) c.448A>C (p.Ile150Leu) | |
2 | g.27366917T= | CA1240244592 | EIF2B4,GTF3C2-AS2 | c.1033A= (p.Ile345=) c.*299A= (n.*299A=) c.607A= c.1030A= (p.Ile344=) c.1093A= (p.Ile365=) n.2934A= c.1096A= (p.Ile366=) c.1024A= (p.Ile342=) c.988A= (p.Ile330=) c.985A= (p.Ile329=) c.415A= (p.Ile139=) n.1772-507T= c.940A= (p.Ile314=) c.448A= (p.Ile150=) | |
2 | g.27366918T>A | CA425606849 | EIF2B4,GTF3C2-AS2 | c.1032A>T (p.Arg344=) c.*298A>T (n.*298A>T) c.606A>T c.1029A>T (p.Arg343=) c.1092A>T (p.Arg364=) n.2933A>T c.1095A>T (p.Arg365=) c.1023A>T (p.Arg341=) c.987A>T (p.Arg329=) c.984A>T (p.Arg328=) c.414A>T (p.Arg138=) n.1772-506T>A c.939A>T (p.Arg313=) c.447A>T (p.Arg149=) | |
2 | g.27366918T>C | CA425606850 | EIF2B4,GTF3C2-AS2 | c.1032A>G (p.Arg344=) c.*298A>G (n.*298A>G) c.606A>G c.1029A>G (p.Arg343=) c.1092A>G (p.Arg364=) n.2933A>G c.1095A>G (p.Arg365=) c.1023A>G (p.Arg341=) c.987A>G (p.Arg329=) c.984A>G (p.Arg328=) c.414A>G (p.Arg138=) n.1772-506T>C c.939A>G (p.Arg313=) c.447A>G (p.Arg149=) | |
2 | g.27366918T>G | CA425606852 | EIF2B4,GTF3C2-AS2 | c.1032A>C (p.Arg344=) c.*298A>C (n.*298A>C) c.606A>C c.1029A>C (p.Arg343=) c.1092A>C (p.Arg364=) n.2933A>C c.1095A>C (p.Arg365=) c.1023A>C (p.Arg341=) c.987A>C (p.Arg329=) c.984A>C (p.Arg328=) c.414A>C (p.Arg138=) n.1772-506T>G c.939A>C (p.Arg313=) c.447A>C (p.Arg149=) | |
2 | g.27366919C>A | CA346198193 | EIF2B4,GTF3C2-AS2 | c.1031G>T (p.Arg344Leu) c.*297G>T (n.*297G>T) c.605G>T c.1028G>T (p.Arg343Leu) c.1091G>T (p.Arg364Leu) n.2932G>T c.1094G>T (p.Arg365Leu) c.1022G>T (p.Arg341Leu) c.986G>T (p.Arg329Leu) c.983G>T (p.Arg328Leu) c.413G>T (p.Arg138Leu) n.1772-505C>A c.938G>T (p.Arg313Leu) c.446G>T (p.Arg149Leu) | dbSNP gnomAD v4 |
2 | g.27366919C= | CA1240244596 | EIF2B4,GTF3C2-AS2 | c.1031G= (p.Arg344=) c.*297G= (n.*297G=) c.605G= c.1028G= (p.Arg343=) c.1091G= (p.Arg364=) n.2932G= c.1094G= (p.Arg365=) c.1022G= (p.Arg341=) c.986G= (p.Arg329=) c.983G= (p.Arg328=) c.413G= (p.Arg138=) n.1772-505C= c.938G= (p.Arg313=) c.446G= (p.Arg149=) | |
2 | g.27366919C>G | CA346198195 | EIF2B4,GTF3C2-AS2 | c.1031G>C (p.Arg344Pro) c.*297G>C (n.*297G>C) c.605G>C c.1028G>C (p.Arg343Pro) c.1091G>C (p.Arg364Pro) n.2932G>C c.1094G>C (p.Arg365Pro) c.1022G>C (p.Arg341Pro) c.986G>C (p.Arg329Pro) c.983G>C (p.Arg328Pro) c.413G>C (p.Arg138Pro) n.1772-505C>G c.938G>C (p.Arg313Pro) c.446G>C (p.Arg149Pro) | |
2 | g.27366919C>T | CA44511545 | EIF2B4,GTF3C2-AS2 | c.1031G>A (p.Arg344Gln) c.*297G>A (n.*297G>A) c.605G>A c.1028G>A (p.Arg343Gln) c.1091G>A (p.Arg364Gln) n.2932G>A c.1094G>A (p.Arg365Gln) c.1022G>A (p.Arg341Gln) c.986G>A (p.Arg329Gln) c.983G>A (p.Arg328Gln) c.413G>A (p.Arg138Gln) n.1772-505C>T c.938G>A (p.Arg313Gln) c.446G>A (p.Arg149Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.27366920G>A | CA346198198 | EIF2B4,GTF3C2-AS2 | c.1030C>T (p.Arg344Ter) c.*296C>T (n.*296C>T) c.604C>T c.1027C>T (p.Arg343Ter) c.1090C>T (p.Arg364Ter) n.2931C>T c.1093C>T (p.Arg365Ter) c.1021C>T (p.Arg341Ter) c.985C>T (p.Arg329Ter) c.982C>T (p.Arg328Ter) c.412C>T (p.Arg138Ter) n.1772-504G>A c.937C>T (p.Arg313Ter) c.445C>T (p.Arg149Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27366920G>C | CA346198200 | EIF2B4,GTF3C2-AS2 | c.1030C>G (p.Arg344Gly) c.*296C>G (n.*296C>G) c.604C>G c.1027C>G (p.Arg343Gly) c.1090C>G (p.Arg364Gly) n.2931C>G c.1093C>G (p.Arg365Gly) c.1021C>G (p.Arg341Gly) c.985C>G (p.Arg329Gly) c.982C>G (p.Arg328Gly) c.412C>G (p.Arg138Gly) n.1772-504G>C c.937C>G (p.Arg313Gly) c.445C>G (p.Arg149Gly) | gnomAD v4 |
2 | g.27366920G= | CA1240244600 | EIF2B4,GTF3C2-AS2 | c.1030C= (p.Arg344=) c.*296C= (n.*296C=) c.604C= c.1027C= (p.Arg343=) c.1090C= (p.Arg364=) n.2931C= c.1093C= (p.Arg365=) c.1021C= (p.Arg341=) c.985C= (p.Arg329=) c.982C= (p.Arg328=) c.412C= (p.Arg138=) n.1772-504G= c.937C= (p.Arg313=) c.445C= (p.Arg149=) | |
2 | g.27366920G>T | CA425606856 | EIF2B4,GTF3C2-AS2 | c.1030C>A (p.Arg344=) c.*296C>A (n.*296C>A) c.604C>A c.1027C>A (p.Arg343=) c.1090C>A (p.Arg364=) n.2931C>A c.1093C>A (p.Arg365=) c.1021C>A (p.Arg341=) c.985C>A (p.Arg329=) c.982C>A (p.Arg328=) c.412C>A (p.Arg138=) n.1772-504G>T c.937C>A (p.Arg313=) c.445C>A (p.Arg149=) | |
2 | g.27366921T>A | CA425606857 | EIF2B4,GTF3C2-AS2 | c.1029A>T (p.Ser343=) c.*295A>T (n.*295A>T) c.603A>T c.1026A>T (p.Ser342=) c.1089A>T (p.Ser363=) n.2930A>T c.1092A>T (p.Ser364=) c.1020A>T (p.Ser340=) c.984A>T (p.Ser328=) c.981A>T (p.Ser327=) c.411A>T (p.Ser137=) n.1772-503T>A c.936A>T (p.Ser312=) c.444A>T (p.Ser148=) | |
2 | g.27366921T>C | CA425606858 | EIF2B4,GTF3C2-AS2 | c.1029A>G (p.Ser343=) c.*295A>G (n.*295A>G) c.603A>G c.1026A>G (p.Ser342=) c.1089A>G (p.Ser363=) n.2930A>G c.1092A>G (p.Ser364=) c.1020A>G (p.Ser340=) c.984A>G (p.Ser328=) c.981A>G (p.Ser327=) c.411A>G (p.Ser137=) n.1772-503T>C c.936A>G (p.Ser312=) c.444A>G (p.Ser148=) | |
2 | g.27366921T>G | CA425606859 | EIF2B4,GTF3C2-AS2 | c.1029A>C (p.Ser343=) c.*295A>C (n.*295A>C) c.603A>C c.1026A>C (p.Ser342=) c.1089A>C (p.Ser363=) n.2930A>C c.1092A>C (p.Ser364=) c.1020A>C (p.Ser340=) c.984A>C (p.Ser328=) c.981A>C (p.Ser327=) c.411A>C (p.Ser137=) n.1772-503T>G c.936A>C (p.Ser312=) c.444A>C (p.Ser148=) | |
2 | g.27366922G>A | CA346198203 | EIF2B4,GTF3C2-AS2 | c.1028C>T (p.Ser343Leu) c.*294C>T (n.*294C>T) c.602C>T c.1025C>T (p.Ser342Leu) c.1088C>T (p.Ser363Leu) n.2929C>T c.1091C>T (p.Ser364Leu) c.1019C>T (p.Ser340Leu) c.983C>T (p.Ser328Leu) c.980C>T (p.Ser327Leu) c.410C>T (p.Ser137Leu) n.1772-502G>A c.935C>T (p.Ser312Leu) c.443C>T (p.Ser148Leu) | |
2 | g.27366922G>C | CA346198204 | EIF2B4,GTF3C2-AS2 | c.1028C>G (p.Ser343Ter) c.*294C>G (n.*294C>G) c.602C>G c.1025C>G (p.Ser342Ter) c.1088C>G (p.Ser363Ter) n.2929C>G c.1091C>G (p.Ser364Ter) c.1019C>G (p.Ser340Ter) c.983C>G (p.Ser328Ter) c.980C>G (p.Ser327Ter) c.410C>G (p.Ser137Ter) n.1772-502G>C c.935C>G (p.Ser312Ter) c.443C>G (p.Ser148Ter) | |
2 | g.27366922G>T | CA346198206 | EIF2B4,GTF3C2-AS2 | c.1028C>A (p.Ser343Ter) c.*294C>A (n.*294C>A) c.602C>A c.1025C>A (p.Ser342Ter) c.1088C>A (p.Ser363Ter) n.2929C>A c.1091C>A (p.Ser364Ter) c.1019C>A (p.Ser340Ter) c.983C>A (p.Ser328Ter) c.980C>A (p.Ser327Ter) c.410C>A (p.Ser137Ter) n.1772-502G>T c.935C>A (p.Ser312Ter) c.443C>A (p.Ser148Ter) | COSMIC COSMIC |
2 | g.27366923A>C | CA346198210 | EIF2B4,GTF3C2-AS2 | c.1027T>G (p.Ser343Ala) c.*293T>G (n.*293T>G) c.601T>G c.1024T>G (p.Ser342Ala) c.1087T>G (p.Ser363Ala) n.2928T>G c.1090T>G (p.Ser364Ala) c.1018T>G (p.Ser340Ala) c.982T>G (p.Ser328Ala) c.979T>G (p.Ser327Ala) c.409T>G (p.Ser137Ala) n.1772-501A>C c.934T>G (p.Ser312Ala) c.442T>G (p.Ser148Ala) | |
2 | g.27366923A>G | CA346198209 | EIF2B4,GTF3C2-AS2 | c.1027T>C (p.Ser343Pro) c.*293T>C (n.*293T>C) c.601T>C c.1024T>C (p.Ser342Pro) c.1087T>C (p.Ser363Pro) n.2928T>C c.1090T>C (p.Ser364Pro) c.1018T>C (p.Ser340Pro) c.982T>C (p.Ser328Pro) c.979T>C (p.Ser327Pro) c.409T>C (p.Ser137Pro) n.1772-501A>G c.934T>C (p.Ser312Pro) c.442T>C (p.Ser148Pro) | |
2 | g.27366923A>T | CA346198208 | EIF2B4,GTF3C2-AS2 | c.1027T>A (p.Ser343Thr) c.*293T>A (n.*293T>A) c.601T>A c.1024T>A (p.Ser342Thr) c.1087T>A (p.Ser363Thr) n.2928T>A c.1090T>A (p.Ser364Thr) c.1018T>A (p.Ser340Thr) c.982T>A (p.Ser328Thr) c.979T>A (p.Ser327Thr) c.409T>A (p.Ser137Thr) n.1772-501A>T c.934T>A (p.Ser312Thr) c.442T>A (p.Ser148Thr) | |
2 | g.27366924T>A | CA425606863 | EIF2B4,GTF3C2-AS2 | c.1026A>T (p.Val342=) c.*292A>T (n.*292A>T) c.600A>T c.1023A>T (p.Val341=) c.1086A>T (p.Val362=) n.2927A>T c.1089A>T (p.Val363=) c.1017A>T (p.Val339=) c.981A>T (p.Val327=) c.978A>T (p.Val326=) c.408A>T (p.Val136=) n.1772-500T>A c.933A>T (p.Val311=) c.441A>T (p.Val147=) | |
2 | g.27366924T>C | CA425606864 | EIF2B4,GTF3C2-AS2 | c.1026A>G (p.Val342=) c.*292A>G (n.*292A>G) c.600A>G c.1023A>G (p.Val341=) c.1086A>G (p.Val362=) n.2927A>G c.1089A>G (p.Val363=) c.1017A>G (p.Val339=) c.981A>G (p.Val327=) c.978A>G (p.Val326=) c.408A>G (p.Val136=) n.1772-500T>C c.933A>G (p.Val311=) c.441A>G (p.Val147=) | |
2 | g.27366924T>G | CA425606865 | EIF2B4,GTF3C2-AS2 | c.1026A>C (p.Val342=) c.*292A>C (n.*292A>C) c.600A>C c.1023A>C (p.Val341=) c.1086A>C (p.Val362=) n.2927A>C c.1089A>C (p.Val363=) c.1017A>C (p.Val339=) c.981A>C (p.Val327=) c.978A>C (p.Val326=) c.408A>C (p.Val136=) n.1772-500T>G c.933A>C (p.Val311=) c.441A>C (p.Val147=) | |
2 | g.27366925A>C | CA346198211 | EIF2B4,GTF3C2-AS2 | c.1025T>G (p.Val342Gly) c.*291T>G (n.*291T>G) c.599T>G c.1022T>G (p.Val341Gly) c.1085T>G (p.Val362Gly) n.2926T>G c.1088T>G (p.Val363Gly) c.1016T>G (p.Val339Gly) c.980T>G (p.Val327Gly) c.977T>G (p.Val326Gly) c.407T>G (p.Val136Gly) n.1772-499A>C c.932T>G (p.Val311Gly) c.440T>G (p.Val147Gly) | |
2 | g.27366925A>G | CA346198212 | EIF2B4,GTF3C2-AS2 | c.1025T>C (p.Val342Ala) c.*291T>C (n.*291T>C) c.599T>C c.1022T>C (p.Val341Ala) c.1085T>C (p.Val362Ala) n.2926T>C c.1088T>C (p.Val363Ala) c.1016T>C (p.Val339Ala) c.980T>C (p.Val327Ala) c.977T>C (p.Val326Ala) c.407T>C (p.Val136Ala) n.1772-499A>G c.932T>C (p.Val311Ala) c.440T>C (p.Val147Ala) | |
2 | g.27366925A>T | CA346198213 | EIF2B4,GTF3C2-AS2 | c.1025T>A (p.Val342Glu) c.*291T>A (n.*291T>A) c.599T>A c.1022T>A (p.Val341Glu) c.1085T>A (p.Val362Glu) n.2926T>A c.1088T>A (p.Val363Glu) c.1016T>A (p.Val339Glu) c.980T>A (p.Val327Glu) c.977T>A (p.Val326Glu) c.407T>A (p.Val136Glu) n.1772-499A>T c.932T>A (p.Val311Glu) c.440T>A (p.Val147Glu) | |
2 | g.27366926C>A | CA1576670 | EIF2B4,GTF3C2-AS2 | c.1024G>T (p.Val342Leu) c.*290G>T (n.*290G>T) c.598G>T c.1021G>T (p.Val341Leu) c.1084G>T (p.Val362Leu) n.2925G>T c.1087G>T (p.Val363Leu) c.1015G>T (p.Val339Leu) c.979G>T (p.Val327Leu) c.976G>T (p.Val326Leu) c.406G>T (p.Val136Leu) n.1772-498C>A c.931G>T (p.Val311Leu) c.439G>T (p.Val147Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27366926C= | CA1240244603 | EIF2B4,GTF3C2-AS2 | c.1024G= (p.Val342=) c.*290G= (n.*290G=) c.598G= c.1021G= (p.Val341=) c.1084G= (p.Val362=) n.2925G= c.1087G= (p.Val363=) c.1015G= (p.Val339=) c.979G= (p.Val327=) c.976G= (p.Val326=) c.406G= (p.Val136=) n.1772-498C= c.931G= (p.Val311=) c.439G= (p.Val147=) | |
2 | g.27366926C>G | CA346198216 | EIF2B4,GTF3C2-AS2 | c.1024G>C (p.Val342Leu) c.*290G>C (n.*290G>C) c.598G>C c.1021G>C (p.Val341Leu) c.1084G>C (p.Val362Leu) n.2925G>C c.1087G>C (p.Val363Leu) c.1015G>C (p.Val339Leu) c.979G>C (p.Val327Leu) c.976G>C (p.Val326Leu) c.406G>C (p.Val136Leu) n.1772-498C>G c.931G>C (p.Val311Leu) c.439G>C (p.Val147Leu) | dbSNP |
2 | g.27366926C>T | CA346198217 | EIF2B4,GTF3C2-AS2 | c.1024G>A (p.Val342Ile) c.*290G>A (n.*290G>A) c.598G>A c.1021G>A (p.Val341Ile) c.1084G>A (p.Val362Ile) n.2925G>A c.1087G>A (p.Val363Ile) c.1015G>A (p.Val339Ile) c.979G>A (p.Val327Ile) c.976G>A (p.Val326Ile) c.406G>A (p.Val136Ile) n.1772-498C>T c.931G>A (p.Val311Ile) c.439G>A (p.Val147Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.27366927C>A | CA425606870 | EIF2B4,GTF3C2-AS2 | c.1023G>T (p.Leu341=) c.*289G>T (n.*289G>T) c.597G>T c.1020G>T (p.Leu340=) c.1083G>T (p.Leu361=) n.2924G>T c.1086G>T (p.Leu362=) c.1014G>T (p.Leu338=) c.978G>T (p.Leu326=) c.975G>T (p.Leu325=) c.405G>T (p.Leu135=) n.1772-497C>A c.930G>T (p.Leu310=) c.438G>T (p.Leu146=) | |
2 | g.27366927C>G | CA425606875 | EIF2B4,GTF3C2-AS2 | c.1023G>C (p.Leu341=) c.*289G>C (n.*289G>C) c.597G>C c.1020G>C (p.Leu340=) c.1083G>C (p.Leu361=) n.2924G>C c.1086G>C (p.Leu362=) c.1014G>C (p.Leu338=) c.978G>C (p.Leu326=) c.975G>C (p.Leu325=) c.405G>C (p.Leu135=) n.1772-497C>G c.930G>C (p.Leu310=) c.438G>C (p.Leu146=) | |
2 | g.27366927C>T | CA425606873 | EIF2B4,GTF3C2-AS2 | c.1023G>A (p.Leu341=) c.*289G>A (n.*289G>A) c.597G>A c.1020G>A (p.Leu340=) c.1083G>A (p.Leu361=) n.2924G>A c.1086G>A (p.Leu362=) c.1014G>A (p.Leu338=) c.978G>A (p.Leu326=) c.975G>A (p.Leu325=) c.405G>A (p.Leu135=) n.1772-497C>T c.930G>A (p.Leu310=) c.438G>A (p.Leu146=) | |
2 | g.27366928A>C | CA346198218 | EIF2B4,GTF3C2-AS2 | c.1022T>G (p.Leu341Arg) c.*288T>G (n.*288T>G) c.596T>G c.1019T>G (p.Leu340Arg) c.1082T>G (p.Leu361Arg) n.2923T>G c.1085T>G (p.Leu362Arg) c.1013T>G (p.Leu338Arg) c.977T>G (p.Leu326Arg) c.974T>G (p.Leu325Arg) c.404T>G (p.Leu135Arg) n.1772-496A>C c.929T>G (p.Leu310Arg) c.437T>G (p.Leu146Arg) | |
2 | g.27366928A>G | CA346198222 | EIF2B4,GTF3C2-AS2 | c.1022T>C (p.Leu341Pro) c.*288T>C (n.*288T>C) c.596T>C c.1019T>C (p.Leu340Pro) c.1082T>C (p.Leu361Pro) n.2923T>C c.1085T>C (p.Leu362Pro) c.1013T>C (p.Leu338Pro) c.977T>C (p.Leu326Pro) c.974T>C (p.Leu325Pro) c.404T>C (p.Leu135Pro) n.1772-496A>G c.929T>C (p.Leu310Pro) c.437T>C (p.Leu146Pro) | gnomAD v4 |
2 | g.27366928A>T | CA346198220 | EIF2B4,GTF3C2-AS2 | c.1022T>A (p.Leu341Gln) c.*288T>A (n.*288T>A) c.596T>A c.1019T>A (p.Leu340Gln) c.1082T>A (p.Leu361Gln) n.2923T>A c.1085T>A (p.Leu362Gln) c.1013T>A (p.Leu338Gln) c.977T>A (p.Leu326Gln) c.974T>A (p.Leu325Gln) c.404T>A (p.Leu135Gln) n.1772-496A>T c.929T>A (p.Leu310Gln) c.437T>A (p.Leu146Gln) | |
2 | g.27366931_27366932del | CA2699013855 | EIF2B4,GTF3C2-AS2 | c.1021_1022del (p.Leu341GlyfsTer?) c.*287_*288del (n.*287_*288del) c.595_596del c.1018_1019del (p.Leu340GlyfsTer?) c.1081_1082del (p.Leu361GlyfsTer?) n.2922_2923del c.1084_1085del (p.Leu362GlyfsTer?) c.1012_1013del (p.Leu338GlyfsTer?) c.976_977del (p.Leu326GlyfsTer?) c.973_974del (p.Leu325GlyfsTer?) c.403_404del (p.Leu135GlyfsTer?) n.1772-493_1772-492del c.928_929del (p.Leu310GlyfsTer?) c.436_437del (p.Leu146GlyfsTer?) | dbSNP |
2 | g.27366929G>A | CA1576671 | EIF2B4,GTF3C2-AS2 | c.1021C>T (p.Leu341=) c.*287C>T (n.*287C>T) c.595C>T c.1018C>T (p.Leu340=) c.1081C>T (p.Leu361=) n.2922C>T c.1084C>T (p.Leu362=) c.1012C>T (p.Leu338=) c.976C>T (p.Leu326=) c.973C>T (p.Leu325=) c.403C>T (p.Leu135=) n.1772-495G>A c.928C>T (p.Leu310=) c.436C>T (p.Leu146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27366929G>C | CA1576672 | EIF2B4,GTF3C2-AS2 | c.1021C>G (p.Leu341Val) c.*287C>G (n.*287C>G) c.595C>G c.1018C>G (p.Leu340Val) c.1081C>G (p.Leu361Val) n.2922C>G c.1084C>G (p.Leu362Val) c.1012C>G (p.Leu338Val) c.976C>G (p.Leu326Val) c.973C>G (p.Leu325Val) c.403C>G (p.Leu135Val) n.1772-495G>C c.928C>G (p.Leu310Val) c.436C>G (p.Leu146Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.27366929G= | CA1240244611 | EIF2B4,GTF3C2-AS2 | c.1021C= (p.Leu341=) c.*287C= (n.*287C=) c.595C= c.1018C= (p.Leu340=) c.1081C= (p.Leu361=) n.2922C= c.1084C= (p.Leu362=) c.1012C= (p.Leu338=) c.976C= (p.Leu326=) c.973C= (p.Leu325=) c.403C= (p.Leu135=) n.1772-495G= c.928C= (p.Leu310=) c.436C= (p.Leu146=) | |
2 | g.27366929G>T | CA346198224 | EIF2B4,GTF3C2-AS2 | c.1021C>A (p.Leu341Met) c.*287C>A (n.*287C>A) c.595C>A c.1018C>A (p.Leu340Met) c.1081C>A (p.Leu361Met) n.2922C>A c.1084C>A (p.Leu362Met) c.1012C>A (p.Leu338Met) c.976C>A (p.Leu326Met) c.973C>A (p.Leu325Met) c.403C>A (p.Leu135Met) n.1772-495G>T c.928C>A (p.Leu310Met) c.436C>A (p.Leu146Met) | gnomAD v4 COSMIC COSMIC |
2 | g.27366930A>C | CA425606878 | EIF2B4,GTF3C2-AS2 | c.1020T>G (p.Ser340=) c.*286T>G (n.*286T>G) c.594T>G c.1017T>G (p.Ser339=) c.1080T>G (p.Ser360=) n.2921T>G c.1083T>G (p.Ser361=) c.1011T>G (p.Ser337=) c.975T>G (p.Ser325=) c.972T>G (p.Ser324=) c.402T>G (p.Ser134=) n.1772-494A>C c.927T>G (p.Ser309=) c.435T>G (p.Ser145=) | |
2 | g.27366930A>G | CA425606879 | EIF2B4,GTF3C2-AS2 | c.1020T>C (p.Ser340=) c.*286T>C (n.*286T>C) c.594T>C c.1017T>C (p.Ser339=) c.1080T>C (p.Ser360=) n.2921T>C c.1083T>C (p.Ser361=) c.1011T>C (p.Ser337=) c.975T>C (p.Ser325=) c.972T>C (p.Ser324=) c.402T>C (p.Ser134=) n.1772-494A>G c.927T>C (p.Ser309=) c.435T>C (p.Ser145=) | gnomAD v4 |
2 | g.27366930A>T | CA425606881 | EIF2B4,GTF3C2-AS2 | c.1020T>A (p.Ser340=) c.*286T>A (n.*286T>A) c.594T>A c.1017T>A (p.Ser339=) c.1080T>A (p.Ser360=) n.2921T>A c.1083T>A (p.Ser361=) c.1011T>A (p.Ser337=) c.975T>A (p.Ser325=) c.972T>A (p.Ser324=) c.402T>A (p.Ser134=) n.1772-494A>T c.927T>A (p.Ser309=) c.435T>A (p.Ser145=) | |
2 | g.27366930_27366931delinsAG | CA1240244616 | EIF2B4,GTF3C2-AS2 | c.1019_1020delinsCT (p.Ser340=) c.*285_*286delinsCT (n.*285_*286delinsCT) c.593_594delinsCT c.1016_1017delinsCT (p.Ser339=) c.1079_1080delinsCT (p.Ser360=) n.2920_2921delinsCT c.1082_1083delinsCT (p.Ser361=) c.1010_1011delinsCT (p.Ser337=) c.974_975delinsCT (p.Ser325=) c.971_972delinsCT (p.Ser324=) c.401_402delinsCT (p.Ser134=) n.1772-494_1772-493delinsAG c.926_927delinsCT (p.Ser309=) c.434_435delinsCT (p.Ser145=) | |
2 | g.27366931del | CA1240244620 | EIF2B4,GTF3C2-AS2 | c.1019del (p.Ser340PhefsTer20) c.*285del (n.*285del) c.593del c.1016del (p.Ser339PhefsTer20) c.1079del (p.Ser360PhefsTer20) n.2920del c.1082del (p.Ser361PhefsTer20) c.1010del (p.Ser337PhefsTer20) c.974del (p.Ser325PhefsTer20) c.971del (p.Ser324PhefsTer20) c.401del (p.Ser134PhefsTer20) n.1772-493del c.926del (p.Ser309PhefsTer20) c.434del (p.Ser145PhefsTer20) | dbSNP |
2 | g.27366931G>A | CA346198226 | EIF2B4,GTF3C2-AS2 | c.1019C>T (p.Ser340Phe) c.*285C>T (n.*285C>T) c.593C>T c.1016C>T (p.Ser339Phe) c.1079C>T (p.Ser360Phe) n.2920C>T c.1082C>T (p.Ser361Phe) c.1010C>T (p.Ser337Phe) c.974C>T (p.Ser325Phe) c.971C>T (p.Ser324Phe) c.401C>T (p.Ser134Phe) n.1772-493G>A c.926C>T (p.Ser309Phe) c.434C>T (p.Ser145Phe) | |
2 | g.27366931G>C | CA346198228 | EIF2B4,GTF3C2-AS2 | c.1019C>G (p.Ser340Cys) c.*285C>G (n.*285C>G) c.593C>G c.1016C>G (p.Ser339Cys) c.1079C>G (p.Ser360Cys) n.2920C>G c.1082C>G (p.Ser361Cys) c.1010C>G (p.Ser337Cys) c.974C>G (p.Ser325Cys) c.971C>G (p.Ser324Cys) c.401C>G (p.Ser134Cys) n.1772-493G>C c.926C>G (p.Ser309Cys) c.434C>G (p.Ser145Cys) | |
2 | g.27366931G>T | CA346198229 | EIF2B4,GTF3C2-AS2 | c.1019C>A (p.Ser340Tyr) c.*285C>A (n.*285C>A) c.593C>A c.1016C>A (p.Ser339Tyr) c.1079C>A (p.Ser360Tyr) n.2920C>A c.1082C>A (p.Ser361Tyr) c.1010C>A (p.Ser337Tyr) c.974C>A (p.Ser325Tyr) c.971C>A (p.Ser324Tyr) c.401C>A (p.Ser134Tyr) n.1772-493G>T c.926C>A (p.Ser309Tyr) c.434C>A (p.Ser145Tyr) | |
2 | g.27366932A>C | CA346198231 | EIF2B4,GTF3C2-AS2 | c.1018T>G (p.Ser340Ala) c.*284T>G (n.*284T>G) c.592T>G c.1015T>G (p.Ser339Ala) c.1078T>G (p.Ser360Ala) n.2919T>G c.1081T>G (p.Ser361Ala) c.1009T>G (p.Ser337Ala) c.973T>G (p.Ser325Ala) c.970T>G (p.Ser324Ala) c.400T>G (p.Ser134Ala) n.1772-492A>C c.925T>G (p.Ser309Ala) c.433T>G (p.Ser145Ala) | |
2 | g.27366932A>G | CA346198233 | EIF2B4,GTF3C2-AS2 | c.1018T>C (p.Ser340Pro) c.*284T>C (n.*284T>C) c.592T>C c.1015T>C (p.Ser339Pro) c.1078T>C (p.Ser360Pro) n.2919T>C c.1081T>C (p.Ser361Pro) c.1009T>C (p.Ser337Pro) c.973T>C (p.Ser325Pro) c.970T>C (p.Ser324Pro) c.400T>C (p.Ser134Pro) n.1772-492A>G c.925T>C (p.Ser309Pro) c.433T>C (p.Ser145Pro) | gnomAD v4 |
2 | g.27366932A>T | CA346198234 | EIF2B4,GTF3C2-AS2 | c.1018T>A (p.Ser340Thr) c.*284T>A (n.*284T>A) c.592T>A c.1015T>A (p.Ser339Thr) c.1078T>A (p.Ser360Thr) n.2919T>A c.1081T>A (p.Ser361Thr) c.1009T>A (p.Ser337Thr) c.973T>A (p.Ser325Thr) c.970T>A (p.Ser324Thr) c.400T>A (p.Ser134Thr) n.1772-492A>T c.925T>A (p.Ser309Thr) c.433T>A (p.Ser145Thr) | |
2 | g.27366933T>A | CA425606886 | EIF2B4,GTF3C2-AS2 | c.1017A>T (p.Ser339=) c.*283A>T (n.*283A>T) c.591A>T c.1014A>T (p.Ser338=) c.1077A>T (p.Ser359=) n.2918A>T c.1080A>T (p.Ser360=) c.1008A>T (p.Ser336=) c.972A>T (p.Ser324=) c.969A>T (p.Ser323=) c.399A>T (p.Ser133=) n.1772-491T>A c.924A>T (p.Ser308=) c.432A>T (p.Ser144=) | |
2 | g.27366933T>C | CA44511593 | EIF2B4,GTF3C2-AS2 | c.1017A>G (p.Ser339=) c.*283A>G (n.*283A>G) c.591A>G c.1014A>G (p.Ser338=) c.1077A>G (p.Ser359=) n.2918A>G c.1080A>G (p.Ser360=) c.1008A>G (p.Ser336=) c.972A>G (p.Ser324=) c.969A>G (p.Ser323=) c.399A>G (p.Ser133=) n.1772-491T>C c.924A>G (p.Ser308=) c.432A>G (p.Ser144=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27366933T>G | CA425606888 | EIF2B4,GTF3C2-AS2 | c.1017A>C (p.Ser339=) c.*283A>C (n.*283A>C) c.591A>C c.1014A>C (p.Ser338=) c.1077A>C (p.Ser359=) n.2918A>C c.1080A>C (p.Ser360=) c.1008A>C (p.Ser336=) c.972A>C (p.Ser324=) c.969A>C (p.Ser323=) c.399A>C (p.Ser133=) n.1772-491T>G c.924A>C (p.Ser308=) c.432A>C (p.Ser144=) | gnomAD v4 |
2 | g.27366933T= | CA1240244622 | EIF2B4,GTF3C2-AS2 | c.1017A= (p.Ser339=) c.*283A= (n.*283A=) c.591A= c.1014A= (p.Ser338=) c.1077A= (p.Ser359=) n.2918A= c.1080A= (p.Ser360=) c.1008A= (p.Ser336=) c.972A= (p.Ser324=) c.969A= (p.Ser323=) c.399A= (p.Ser133=) n.1772-491T= c.924A= (p.Ser308=) c.432A= (p.Ser144=) |