| 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.27366830G>A | CA340162 | EIF2B4,GTF3C2-AS2 | c.1120C>T (p.Arg374Cys) c.*386C>T (n.*386C>T) c.694C>T c.1117C>T (p.Arg373Cys) c.1180C>T (p.Arg394Cys) n.3021C>T c.1183C>T (p.Arg395Cys) c.1111C>T (p.Arg371Cys) c.1075C>T (p.Arg359Cys) c.1072C>T (p.Arg358Cys) c.502C>T (p.Arg168Cys) n.1772-594G>A c.1027C>T (p.Arg343Cys) c.535C>T (p.Arg179Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27366830G>C | CA346197882 | EIF2B4,GTF3C2-AS2 | c.1120C>G (p.Arg374Gly) c.*386C>G (n.*386C>G) c.694C>G c.1117C>G (p.Arg373Gly) c.1180C>G (p.Arg394Gly) n.3021C>G c.1183C>G (p.Arg395Gly) c.1111C>G (p.Arg371Gly) c.1075C>G (p.Arg359Gly) c.1072C>G (p.Arg358Gly) c.502C>G (p.Arg168Gly) n.1772-594G>C c.1027C>G (p.Arg343Gly) c.535C>G (p.Arg179Gly) | |
| 2 | g.27366830G= | CA1240244438 | EIF2B4,GTF3C2-AS2 | c.1120C= (p.Arg374=) c.*386C= (n.*386C=) c.694C= c.1117C= (p.Arg373=) c.1180C= (p.Arg394=) n.3021C= c.1183C= (p.Arg395=) c.1111C= (p.Arg371=) c.1075C= (p.Arg359=) c.1072C= (p.Arg358=) c.502C= (p.Arg168=) n.1772-594G= c.1027C= (p.Arg343=) c.535C= (p.Arg179=) | |
| 2 | g.27366830G>T | CA346197884 | EIF2B4,GTF3C2-AS2 | c.1120C>A (p.Arg374Ser) c.*386C>A (n.*386C>A) c.694C>A c.1117C>A (p.Arg373Ser) c.1180C>A (p.Arg394Ser) n.3021C>A c.1183C>A (p.Arg395Ser) c.1111C>A (p.Arg371Ser) c.1075C>A (p.Arg359Ser) c.1072C>A (p.Arg358Ser) c.502C>A (p.Arg168Ser) n.1772-594G>T c.1027C>A (p.Arg343Ser) c.535C>A (p.Arg179Ser) | gnomAD v4 |
| 2 | g.27366831T>A | CA425606600 | EIF2B4,GTF3C2-AS2 | c.1119A>T (p.Leu373=) c.*385A>T (n.*385A>T) c.693A>T c.1116A>T (p.Leu372=) c.1179A>T (p.Leu393=) n.3020A>T c.1182A>T (p.Leu394=) c.1110A>T (p.Leu370=) c.1074A>T (p.Leu358=) c.1071A>T (p.Leu357=) c.501A>T (p.Leu167=) n.1772-593T>A c.1026A>T (p.Leu342=) c.534A>T (p.Leu178=) | |
| 2 | g.27366831T>C | CA425606601 | EIF2B4,GTF3C2-AS2 | c.1119A>G (p.Leu373=) c.*385A>G (n.*385A>G) c.693A>G c.1116A>G (p.Leu372=) c.1179A>G (p.Leu393=) n.3020A>G c.1182A>G (p.Leu394=) c.1110A>G (p.Leu370=) c.1074A>G (p.Leu358=) c.1071A>G (p.Leu357=) c.501A>G (p.Leu167=) n.1772-593T>C c.1026A>G (p.Leu342=) c.534A>G (p.Leu178=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.27366831T>G | CA425606602 | EIF2B4,GTF3C2-AS2 | c.1119A>C (p.Leu373=) c.*385A>C (n.*385A>C) c.693A>C c.1116A>C (p.Leu372=) c.1179A>C (p.Leu393=) n.3020A>C c.1182A>C (p.Leu394=) c.1110A>C (p.Leu370=) c.1074A>C (p.Leu358=) c.1071A>C (p.Leu357=) c.501A>C (p.Leu167=) n.1772-593T>G c.1026A>C (p.Leu342=) c.534A>C (p.Leu178=) | |
| 2 | g.27366831T= | CA1240244446 | EIF2B4,GTF3C2-AS2 | c.1119A= (p.Leu373=) c.*385A= (n.*385A=) c.693A= c.1116A= (p.Leu372=) c.1179A= (p.Leu393=) n.3020A= c.1182A= (p.Leu394=) c.1110A= (p.Leu370=) c.1074A= (p.Leu358=) c.1071A= (p.Leu357=) c.501A= (p.Leu167=) n.1772-593T= c.1026A= (p.Leu342=) c.534A= (p.Leu178=) | |
| 2 | g.27366832A>C | CA346197886 | EIF2B4,GTF3C2-AS2 | c.1118T>G (p.Leu373Arg) c.*384T>G (n.*384T>G) c.692T>G c.1115T>G (p.Leu372Arg) c.1178T>G (p.Leu393Arg) n.3019T>G c.1181T>G (p.Leu394Arg) c.1109T>G (p.Leu370Arg) c.1073T>G (p.Leu358Arg) c.1070T>G (p.Leu357Arg) c.500T>G (p.Leu167Arg) n.1772-592A>C c.1025T>G (p.Leu342Arg) c.533T>G (p.Leu178Arg) | |
| 2 | g.27366832A>G | CA346197888 | EIF2B4,GTF3C2-AS2 | c.1118T>C (p.Leu373Pro) c.*384T>C (n.*384T>C) c.692T>C c.1115T>C (p.Leu372Pro) c.1178T>C (p.Leu393Pro) n.3019T>C c.1181T>C (p.Leu394Pro) c.1109T>C (p.Leu370Pro) c.1073T>C (p.Leu358Pro) c.1070T>C (p.Leu357Pro) c.500T>C (p.Leu167Pro) n.1772-592A>G c.1025T>C (p.Leu342Pro) c.533T>C (p.Leu178Pro) | |
| 2 | g.27366832A>T | CA346197890 | EIF2B4,GTF3C2-AS2 | c.1118T>A (p.Leu373Gln) c.*384T>A (n.*384T>A) c.692T>A c.1115T>A (p.Leu372Gln) c.1178T>A (p.Leu393Gln) n.3019T>A c.1181T>A (p.Leu394Gln) c.1109T>A (p.Leu370Gln) c.1073T>A (p.Leu358Gln) c.1070T>A (p.Leu357Gln) c.500T>A (p.Leu167Gln) n.1772-592A>T c.1025T>A (p.Leu342Gln) c.533T>A (p.Leu178Gln) | |
| 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=) |