Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27366782_27367008delCA2697547926EIF2B4,GTF3C2-AS2c.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
2g.27366830G>ACA340162EIF2B4,GTF3C2-AS2c.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
2g.27366830G>CCA346197882EIF2B4,GTF3C2-AS2c.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)
2g.27366830G=CA1240244438EIF2B4,GTF3C2-AS2c.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=)
2g.27366830G>TCA346197884EIF2B4,GTF3C2-AS2c.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
2g.27366831T>ACA425606600EIF2B4,GTF3C2-AS2c.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=)
2g.27366831T>CCA425606601EIF2B4,GTF3C2-AS2c.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
2g.27366831T>GCA425606602EIF2B4,GTF3C2-AS2c.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=)
2g.27366831T=CA1240244446EIF2B4,GTF3C2-AS2c.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=)
2g.27366832A>CCA346197886EIF2B4,GTF3C2-AS2c.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)
2g.27366832A>GCA346197888EIF2B4,GTF3C2-AS2c.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)
2g.27366832A>TCA346197890EIF2B4,GTF3C2-AS2c.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)
2g.27366833G>ACA425606607EIF2B4,GTF3C2-AS2c.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
2g.27366833G>CCA346197892EIF2B4,GTF3C2-AS2c.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)
2g.27366833G>TCA346197895EIF2B4,GTF3C2-AS2c.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)
2g.27366834T>ACA425606608EIF2B4,GTF3C2-AS2c.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=)
2g.27366834T>CCA1576652EIF2B4,GTF3C2-AS2c.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
2g.27366834T>GCA425606612EIF2B4,GTF3C2-AS2c.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
2g.27366834T=CA1240244447EIF2B4,GTF3C2-AS2c.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=)
2g.27366835G>ACA346197900EIF2B4,GTF3C2-AS2c.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
2g.27366835G>CCA346197902EIF2B4,GTF3C2-AS2c.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)
2g.27366835G>TCA346197898EIF2B4,GTF3C2-AS2c.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)
2g.27366836T>ACA346197904EIF2B4,GTF3C2-AS2c.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)
2g.27366836T>CCA346197905EIF2B4,GTF3C2-AS2c.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
2g.27366836T>GCA346197907EIF2B4,GTF3C2-AS2c.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)
2g.27366836T=CA1240244449EIF2B4,GTF3C2-AS2c.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=)
2g.27366837G>ACA425606618EIF2B4,GTF3C2-AS2c.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=)
2g.27366837G>CCA346197909EIF2B4,GTF3C2-AS2c.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
2g.27366837G>TCA346197910EIF2B4,GTF3C2-AS2c.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)
2g.27366838T>ACA346197913EIF2B4,GTF3C2-AS2c.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)
2g.27366838T>CCA346197915EIF2B4,GTF3C2-AS2c.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
2g.27366838T>GCA346197916EIF2B4,GTF3C2-AS2c.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
2g.27366839G>ACA1576653EIF2B4,GTF3C2-AS2c.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
2g.27366839G>CCA346197918EIF2B4,GTF3C2-AS2c.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)
2g.27366839G=CA1240244452EIF2B4,GTF3C2-AS2c.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=)
2g.27366839G>TCA346197919EIF2B4,GTF3C2-AS2c.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)
2g.27366840C>ACA346197921EIF2B4,GTF3C2-AS2c.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)
2g.27366840C>GCA346197922EIF2B4,GTF3C2-AS2c.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)
2g.27366840C>TCA425606627EIF2B4,GTF3C2-AS2c.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=)
2g.27366841C>ACA346197926EIF2B4,GTF3C2-AS2c.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)
2g.27366841C=CA1240244459EIF2B4,GTF3C2-AS2c.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=)
2g.27366841C>GCA346197928EIF2B4,GTF3C2-AS2c.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)
2g.27366841C>TCA346197925EIF2B4,GTF3C2-AS2c.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
2g.27366842T>ACA346197929EIF2B4,GTF3C2-AS2c.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)
2g.27366842T>CCA346197930EIF2B4,GTF3C2-AS2c.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)
2g.27366842T>GCA425606636EIF2B4,GTF3C2-AS2c.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=)
2g.27366843T>ACA425606637EIF2B4,GTF3C2-AS2c.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=)
2g.27366843T>CCA425606638EIF2B4,GTF3C2-AS2c.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
2g.27366843T>GCA425606639EIF2B4,GTF3C2-AS2c.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
2g.27366843T=CA1240244462EIF2B4,GTF3C2-AS2c.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=)
2g.27366844C>ACA346197931EIF2B4,GTF3C2-AS2c.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)
2g.27366844C>GCA346197932EIF2B4,GTF3C2-AS2c.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)
2g.27366844C>TCA346197933EIF2B4,GTF3C2-AS2c.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)
2g.27366845C>ACA346197938EIF2B4,GTF3C2-AS2c.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)
2g.27366845C>GCA346197934EIF2B4,GTF3C2-AS2c.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)
2g.27366845C>TCA346197936EIF2B4,GTF3C2-AS2c.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)
2g.27366846T>ACA346197940EIF2B4,GTF3C2-AS2c.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)
2g.27366846T>CCA425606679EIF2B4,GTF3C2-AS2c.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=)
2g.27366846T>GCA346197941EIF2B4,GTF3C2-AS2c.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)
2g.27366847T>ACA346197942EIF2B4,GTF3C2-AS2c.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)
2g.27366847T>CCA346197944EIF2B4,GTF3C2-AS2c.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
2g.27366847T>GCA346197945EIF2B4,GTF3C2-AS2c.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)
2g.27366848C>ACA346197946EIF2B4,GTF3C2-AS2c.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)
2g.27366848C=CA1240244469EIF2B4,GTF3C2-AS2c.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=)
2g.27366848C>GCA346197948EIF2B4,GTF3C2-AS2c.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)
2g.27366848C>TCA1576654EIF2B4,GTF3C2-AS2c.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
2g.27366849C>ACA425606686EIF2B4,GTF3C2-AS2c.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=)
2g.27366849C=CA1240244475EIF2B4,GTF3C2-AS2c.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=)
2g.27366849C>GCA425606691EIF2B4,GTF3C2-AS2c.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=)
2g.27366849C>TCA425606692EIF2B4,GTF3C2-AS2c.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
2g.27366850A>CCA346197949EIF2B4,GTF3C2-AS2c.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)
2g.27366850A>GCA346197951EIF2B4,GTF3C2-AS2c.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)
2g.27366850A>TCA346197950EIF2B4,GTF3C2-AS2c.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)
2g.27366851G>ACA425606699EIF2B4,GTF3C2-AS2c.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=)
2g.27366851G>CCA346197952EIF2B4,GTF3C2-AS2c.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)
2g.27366851G>TCA346197954EIF2B4,GTF3C2-AS2c.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)
2g.27366852C>ACA346197956EIF2B4,GTF3C2-AS2c.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
2g.27366852C>GCA346197957EIF2B4,GTF3C2-AS2c.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)
2g.27366852C>TCA346197959EIF2B4,GTF3C2-AS2c.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)
2g.27366853C>ACA346197961EIF2B4,GTF3C2-AS2c.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)
2g.27366853C>GCA346197962EIF2B4,GTF3C2-AS2c.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)
2g.27366853C>TCA346197964EIF2B4,GTF3C2-AS2c.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)
2g.27366854A>CCA346197966EIF2B4,GTF3C2-AS2c.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)
2g.27366854A>GCA346197968EIF2B4,GTF3C2-AS2c.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)
2g.27366854A>TCA346197969EIF2B4,GTF3C2-AS2c.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)
2g.27366855T>ACA425606708EIF2B4,GTF3C2-AS2c.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=)
2g.27366855T>CCA1576655EIF2B4,GTF3C2-AS2c.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
2g.27366855T>GCA425606709EIF2B4,GTF3C2-AS2c.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=)
2g.27366855T=CA1240244479EIF2B4,GTF3C2-AS2c.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=)
2g.27366856G>ACA346197972EIF2B4,GTF3C2-AS2c.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
2g.27366856G>CCA346197976EIF2B4,GTF3C2-AS2c.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
2g.27366856G=CA1240244484EIF2B4,GTF3C2-AS2c.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=)
2g.27366856G>TCA346197974EIF2B4,GTF3C2-AS2c.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)
2g.27366857G>ACA346197978EIF2B4,GTF3C2-AS2c.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)
2g.27366857G>CCA346197979EIF2B4,GTF3C2-AS2c.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
2g.27366857G>TCA346197981EIF2B4,GTF3C2-AS2c.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)
2g.27366858C>ACA425606717EIF2B4,GTF3C2-AS2c.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=)
2g.27366858C>GCA425606719EIF2B4,GTF3C2-AS2c.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=)
2g.27366858C>TCA425606720EIF2B4,GTF3C2-AS2c.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=)
2g.27366859C>ACA346197983EIF2B4,GTF3C2-AS2c.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)
2g.27366859C=CA1240244486EIF2B4,GTF3C2-AS2c.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=)
2g.27366859C>GCA346197985EIF2B4,GTF3C2-AS2c.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)
2g.27366859C>TCA1576656EIF2B4,GTF3C2-AS2c.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
2g.27366860G>ACA346197988EIF2B4,GTF3C2-AS2c.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
2g.27366860G>CCA346197989EIF2B4,GTF3C2-AS2c.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)
2g.27366860G=CA1240244489EIF2B4,GTF3C2-AS2c.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=)
2g.27366860G>TCA425606725EIF2B4,GTF3C2-AS2c.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
2g.27366861G>ACA425606728EIF2B4,GTF3C2-AS2c.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
2g.27366861G>CCA346197991EIF2B4,GTF3C2-AS2c.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)
2g.27366861G>TCA346197993EIF2B4,GTF3C2-AS2c.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)
2g.27366862C>ACA346197995EIF2B4,GTF3C2-AS2c.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)
2g.27366862C=CA1240244491EIF2B4,GTF3C2-AS2c.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=)
2g.27366862C>GCA1576657EIF2B4,GTF3C2-AS2c.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
2g.27366862C>TCA1576658EIF2B4,GTF3C2-AS2c.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
2g.27366863T>ACA346197997EIF2B4,GTF3C2-AS2c.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)
2g.27366863T>CCA346197999EIF2B4,GTF3C2-AS2c.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)
2g.27366863T>GCA44511492EIF2B4,GTF3C2-AS2c.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
2g.27366863T=CA1240244495EIF2B4,GTF3C2-AS2c.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=)
2g.27366864G>ACA425606737EIF2B4,GTF3C2-AS2c.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=)
2g.27366864G>CCA346198000EIF2B4,GTF3C2-AS2c.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)
2g.27366864G>TCA346198002EIF2B4,GTF3C2-AS2c.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)
2g.27366865T>ACA346198007EIF2B4,GTF3C2-AS2c.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)
2g.27366865T>CCA346198006EIF2B4,GTF3C2-AS2c.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)
2g.27366865T>GCA346198004EIF2B4,GTF3C2-AS2c.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)
2g.27366866C>ACA346198009EIF2B4,GTF3C2-AS2c.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)
2g.27366866C=CA1240244501EIF2B4,GTF3C2-AS2c.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=)
2g.27366866C>GCA346198012EIF2B4,GTF3C2-AS2c.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)
2g.27366866C>TCA346198013EIF2B4,GTF3C2-AS2c.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
2g.27366867C>ACA425606745EIF2B4,GTF3C2-AS2c.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=)
2g.27366867C>GCA425606746EIF2B4,GTF3C2-AS2c.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=)
2g.27366867C>TCA425606748EIF2B4,GTF3C2-AS2c.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=)
2g.27366868A>CCA346198016EIF2B4,GTF3C2-AS2c.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)
2g.27366868A>GCA346198018EIF2B4,GTF3C2-AS2c.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)
2g.27366868A>TCA346198021EIF2B4,GTF3C2-AS2c.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)
2g.27366869C>ACA346198023EIF2B4,GTF3C2-AS2c.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)
2g.27366869C=CA1240244504EIF2B4,GTF3C2-AS2c.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=)
2g.27366869C>GCA346198025EIF2B4,GTF3C2-AS2c.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
2g.27366869C>TCA1576659EIF2B4,GTF3C2-AS2c.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
2g.27366870C>ACA425606755EIF2B4,GTF3C2-AS2c.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=)
2g.27366870C=CA1240244508EIF2B4,GTF3C2-AS2c.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=)
2g.27366870C>GCA425606756EIF2B4,GTF3C2-AS2c.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=)
2g.27366870C>TCA425606757EIF2B4,GTF3C2-AS2c.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=)
2g.27366870_27366871insTCA1240244510EIF2B4,GTF3C2-AS2c.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?)
2g.27366871A>CCA346198026EIF2B4,GTF3C2-AS2c.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)
2g.27366871A>GCA346198028EIF2B4,GTF3C2-AS2c.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)
2g.27366871A>TCA346198030EIF2B4,GTF3C2-AS2c.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)
2g.27366873_27366875delCA2576980950EIF2B4,GTF3C2-AS2c.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)
2g.27366872C>ACA346198031EIF2B4,GTF3C2-AS2c.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)
2g.27366872C>GCA346198033EIF2B4,GTF3C2-AS2c.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)
2g.27366872C>TCA346198035EIF2B4,GTF3C2-AS2c.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)
2g.27366873T>ACA425606764EIF2B4,GTF3C2-AS2c.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=)
2g.27366873T>CCA425606766EIF2B4,GTF3C2-AS2c.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=)
2g.27366873T>GCA425606767EIF2B4,GTF3C2-AS2c.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
2g.27366873T=CA1240244514EIF2B4,GTF3C2-AS2c.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=)
2g.27366874A>CCA346198037EIF2B4,GTF3C2-AS2c.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)
2g.27366874A>GCA346198038EIF2B4,GTF3C2-AS2c.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)
2g.27366874A>TCA346198040EIF2B4,GTF3C2-AS2c.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)
2g.27366875C>ACA346198044EIF2B4,GTF3C2-AS2c.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)
2g.27366875C>GCA346198046EIF2B4,GTF3C2-AS2c.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)
2g.27366875C>TCA346198047EIF2B4,GTF3C2-AS2c.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)
2g.27366876C>ACA425606771EIF2B4,GTF3C2-AS2c.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=)
2g.27366876C=CA1240244517EIF2B4,GTF3C2-AS2c.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=)
2g.27366876C>GCA425606772EIF2B4,GTF3C2-AS2c.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=)
2g.27366876C>TCA425606774EIF2B4,GTF3C2-AS2c.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
2g.27366877A>CCA346198052EIF2B4,GTF3C2-AS2c.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)
2g.27366877A>GCA346198049EIF2B4,GTF3C2-AS2c.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)
2g.27366877A>TCA346198051EIF2B4,GTF3C2-AS2c.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)
2g.27366878C>ACA1576661EIF2B4,GTF3C2-AS2c.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
2g.27366878C=CA1240244521EIF2B4,GTF3C2-AS2c.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=)
2g.27366878C>GCA1576660EIF2B4,GTF3C2-AS2c.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
2g.27366878C>TCA346198055EIF2B4,GTF3C2-AS2c.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
2g.27366879C>ACA425606777EIF2B4,GTF3C2-AS2c.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=)
2g.27366879C>GCA425606778EIF2B4,GTF3C2-AS2c.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=)
2g.27366879C>TCA425606779EIF2B4,GTF3C2-AS2c.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
2g.27366880C>ACA346198057EIF2B4,GTF3C2-AS2c.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
2g.27366880C=CA1240244528EIF2B4,GTF3C2-AS2c.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=)
2g.27366880C>GCA346198060EIF2B4,GTF3C2-AS2c.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)
2g.27366880C>TCA340161EIF2B4,GTF3C2-AS2c.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
2g.27366881G>ACA1576662EIF2B4,GTF3C2-AS2c.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
2g.27366881G>CCA346198062EIF2B4,GTF3C2-AS2c.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)
2g.27366881G=CA1240244536EIF2B4,GTF3C2-AS2c.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=)
2g.27366881G>TCA425606783EIF2B4,GTF3C2-AS2c.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=)
2g.27366882A=CA1240244540EIF2B4,GTF3C2-AS2c.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=)
2g.27366882A>CCA346198063EIF2B4,GTF3C2-AS2c.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
2g.27366882A>GCA1576663EIF2B4,GTF3C2-AS2c.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
2g.27366882A>TCA346198065EIF2B4,GTF3C2-AS2c.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)
2g.27366883A=CA1240244543EIF2B4,GTF3C2-AS2c.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=)
2g.27366883A>CCA346198066EIF2B4,GTF3C2-AS2c.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
2g.27366883A>GCA346198067EIF2B4,GTF3C2-AS2c.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)
2g.27366883A>TCA346198070EIF2B4,GTF3C2-AS2c.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)
2g.27366883_27366884insCCA2749265050EIF2B4,GTF3C2-AS2c.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?)
2g.27366883_27366884insCACCA2749265051EIF2B4,GTF3C2-AS2c.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)
2g.27366884A=CA1240244547EIF2B4,GTF3C2-AS2c.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=)
2g.27366884A>CCA346198071EIF2B4,GTF3C2-AS2c.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
2g.27366884A>GCA346198073EIF2B4,GTF3C2-AS2c.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)
2g.27366884A>TCA346198076EIF2B4,GTF3C2-AS2c.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)
2g.27366885C>ACA425606787EIF2B4,GTF3C2-AS2c.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=)
2g.27366885C>GCA425606788EIF2B4,GTF3C2-AS2c.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=)
2g.27366885C>TCA425606789EIF2B4,GTF3C2-AS2c.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=)
2g.27366886C>ACA346198081EIF2B4,GTF3C2-AS2c.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)
2g.27366886C=CA1240244551EIF2B4,GTF3C2-AS2c.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=)
2g.27366886C>GCA346198078EIF2B4,GTF3C2-AS2c.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)
2g.27366886C>TCA346198080EIF2B4,GTF3C2-AS2c.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
2g.27366887G>ACA44511508EIF2B4,GTF3C2-AS2c.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
2g.27366887G>CCA346198083EIF2B4,GTF3C2-AS2c.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)
2g.27366887G=CA1240244555EIF2B4,GTF3C2-AS2c.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=)
2g.27366887G>TCA425606792EIF2B4,GTF3C2-AS2c.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=)
2g.27366888C>ACA425606794EIF2B4,GTF3C2-AS2c.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=)
2g.27366888C>GCA425606795EIF2B4,GTF3C2-AS2c.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=)
2g.27366888C>TCA425606798EIF2B4,GTF3C2-AS2c.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=)
2g.27366889C>ACA346198085EIF2B4,GTF3C2-AS2c.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)
2g.27366889C=CA1240244558EIF2B4,GTF3C2-AS2c.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=)
2g.27366889C>GCA346198087EIF2B4,GTF3C2-AS2c.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)
2g.27366889C>TCA1576664EIF2B4,GTF3C2-AS2c.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
2g.27366890G>ACA1576665EIF2B4,GTF3C2-AS2c.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
2g.27366890G>CCA346198091EIF2B4,GTF3C2-AS2c.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)
2g.27366890G=CA1240244564EIF2B4,GTF3C2-AS2c.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=)
2g.27366890G>TCA1576666EIF2B4,GTF3C2-AS2c.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
2g.27366891G>ACA425606803EIF2B4,GTF3C2-AS2c.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
2g.27366891G>CCA425606805EIF2B4,GTF3C2-AS2c.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=)
2g.27366891G>TCA425606806EIF2B4,GTF3C2-AS2c.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=)
2g.27366892C>ACA346198093EIF2B4,GTF3C2-AS2c.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)
2g.27366892C>GCA346198094EIF2B4,GTF3C2-AS2c.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)
2g.27366892C>TCA346198095EIF2B4,GTF3C2-AS2c.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)
2g.27366893C>ACA346198098EIF2B4,GTF3C2-AS2c.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)
2g.27366893C=CA1240244566EIF2B4,GTF3C2-AS2c.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=)
2g.27366893C>GCA346198099EIF2B4,GTF3C2-AS2c.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)
2g.27366893C>TCA1576667EIF2B4,GTF3C2-AS2c.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
2g.27366894C>ACA346198101EIF2B4,GTF3C2-AS2c.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)
2g.27366894C=CA1240244570EIF2B4,GTF3C2-AS2c.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=)
2g.27366894C>GCA346198103EIF2B4,GTF3C2-AS2c.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)
2g.27366894C>TCA425606809EIF2B4,GTF3C2-AS2c.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
2g.27366895T>ACA346198105EIF2B4,GTF3C2-AS2c.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)
2g.27366895T>CCA346198107EIF2B4,GTF3C2-AS2c.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)
2g.27366895T>GCA346198109EIF2B4,GTF3C2-AS2c.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)
2g.27366896C>ACA346198113EIF2B4,GTF3C2-AS2c.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)
2g.27366896C>GCA346198112EIF2B4,GTF3C2-AS2c.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)
2g.27366896C>TCA346198110EIF2B4,GTF3C2-AS2c.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
2g.27366897T>ACA425606815EIF2B4,GTF3C2-AS2c.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=)
2g.27366897T>CCA425606816EIF2B4,GTF3C2-AS2c.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=)
2g.27366897T>GCA425606817EIF2B4,GTF3C2-AS2c.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=)
2g.27366898G>ACA1576668EIF2B4,GTF3C2-AS2c.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
2g.27366898G>CCA44511533EIF2B4,GTF3C2-AS2c.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
2g.27366898G=CA1240244573EIF2B4,GTF3C2-AS2c.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=)
2g.27366898G>TCA346198117EIF2B4,GTF3C2-AS2c.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)
2g.27366899T>ACA346198118EIF2B4,GTF3C2-AS2c.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)
2g.27366899T>CCA346198119EIF2B4,GTF3C2-AS2c.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)
2g.27366899T>GCA346198121EIF2B4,GTF3C2-AS2c.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)
2g.27366900C>ACA1576669EIF2B4,GTF3C2-AS2c.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
2g.27366900C=CA1240244579EIF2B4,GTF3C2-AS2c.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=)
2g.27366900C>GCA346198126EIF2B4,GTF3C2-AS2c.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)
2g.27366900C>TCA346198124EIF2B4,GTF3C2-AS2c.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)
2g.27366901C>ACA346198127EIF2B4,GTF3C2-AS2c.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)
2g.27366901C>GCA346198128EIF2B4,GTF3C2-AS2c.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)
2g.27366901C>TCA346198130EIF2B4,GTF3C2-AS2c.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)
2g.27366902A=CA1240244581EIF2B4,GTF3C2-AS2c.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=)
2g.27366902A>CCA346198131EIF2B4,GTF3C2-AS2c.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)
2g.27366902A>GCA346198133EIF2B4,GTF3C2-AS2c.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
2g.27366902A>TCA346198135EIF2B4,GTF3C2-AS2c.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)
2g.27366903A>CCA425606825EIF2B4,GTF3C2-AS2c.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=)
2g.27366903A>GCA425606826EIF2B4,GTF3C2-AS2c.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=)
2g.27366903A>TCA425606827EIF2B4,GTF3C2-AS2c.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=)
2g.27366904G>ACA346198138EIF2B4,GTF3C2-AS2c.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)
2g.27366904G>CCA346198140EIF2B4,GTF3C2-AS2c.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)
2g.27366904G>TCA346198141EIF2B4,GTF3C2-AS2c.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)
2g.27366905C>ACA346198143EIF2B4,GTF3C2-AS2c.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
2g.27366905C>GCA346198145EIF2B4,GTF3C2-AS2c.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)
2g.27366905C>TCA346198146EIF2B4,GTF3C2-AS2c.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
2g.27366906C>ACA346198148EIF2B4,GTF3C2-AS2c.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)
2g.27366906C>GCA346198149EIF2B4,GTF3C2-AS2c.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)
2g.27366906C>TCA425606829EIF2B4,GTF3C2-AS2c.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
2g.27366907T>ACA346198151EIF2B4,GTF3C2-AS2c.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)
2g.27366907T>CCA346198154EIF2B4,GTF3C2-AS2c.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)
2g.27366907T>GCA346198153EIF2B4,GTF3C2-AS2c.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
2g.27366908C>ACA346198155EIF2B4,GTF3C2-AS2c.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)
2g.27366908C>GCA346198157EIF2B4,GTF3C2-AS2c.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)
2g.27366908C>TCA346198158EIF2B4,GTF3C2-AS2c.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
2g.27366909C>ACA346198160EIF2B4,GTF3C2-AS2c.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)
2g.27366909C=CA1240244586EIF2B4,GTF3C2-AS2c.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=)
2g.27366909C>GCA346198161EIF2B4,GTF3C2-AS2c.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)
2g.27366909C>TCA44511537EIF2B4,GTF3C2-AS2c.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
2g.27366910T>ACA346198163EIF2B4,GTF3C2-AS2c.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)
2g.27366910T>CCA346198164EIF2B4,GTF3C2-AS2c.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)
2g.27366910T>GCA346198165EIF2B4,GTF3C2-AS2c.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)
2g.27366911G>ACA346198167EIF2B4,GTF3C2-AS2c.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)
2g.27366911G>CCA346198169EIF2B4,GTF3C2-AS2c.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)
2g.27366911G>TCA346198171EIF2B4,GTF3C2-AS2c.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)
2g.27366912A>CCA425606837EIF2B4,GTF3C2-AS2c.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=)
2g.27366912A>GCA425606838EIF2B4,GTF3C2-AS2c.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=)
2g.27366912A>TCA425606839EIF2B4,GTF3C2-AS2c.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=)
2g.27366913A>CCA346198172EIF2B4,GTF3C2-AS2c.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)
2g.27366913A>GCA346198175EIF2B4,GTF3C2-AS2c.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)
2g.27366913A>TCA346198174EIF2B4,GTF3C2-AS2c.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)
2g.27366914G>ACA346198177EIF2B4,GTF3C2-AS2c.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)
2g.27366914G>CCA346198178EIF2B4,GTF3C2-AS2c.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)
2g.27366914G>TCA346198180EIF2B4,GTF3C2-AS2c.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)
2g.27366915A=CA1240244588EIF2B4,GTF3C2-AS2c.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=)
2g.27366915A>CCA346198182EIF2B4,GTF3C2-AS2c.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
2g.27366915A>GCA425606842EIF2B4,GTF3C2-AS2c.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
2g.27366915A>TCA425606844EIF2B4,GTF3C2-AS2c.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
2g.27366916A>CCA346198183EIF2B4,GTF3C2-AS2c.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)
2g.27366916A>GCA346198184EIF2B4,GTF3C2-AS2c.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)
2g.27366916A>TCA346198185EIF2B4,GTF3C2-AS2c.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)
2g.27366917T>ACA346198187EIF2B4,GTF3C2-AS2c.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)
2g.27366917T>CCA346198189EIF2B4,GTF3C2-AS2c.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
2g.27366917T>GCA346198191EIF2B4,GTF3C2-AS2c.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)
2g.27366917T=CA1240244592EIF2B4,GTF3C2-AS2c.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=)
2g.27366918T>ACA425606849EIF2B4,GTF3C2-AS2c.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=)
2g.27366918T>CCA425606850EIF2B4,GTF3C2-AS2c.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=)
2g.27366918T>GCA425606852EIF2B4,GTF3C2-AS2c.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=)
2g.27366919C>ACA346198193EIF2B4,GTF3C2-AS2c.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
2g.27366919C=CA1240244596EIF2B4,GTF3C2-AS2c.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=)
2g.27366919C>GCA346198195EIF2B4,GTF3C2-AS2c.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)
2g.27366919C>TCA44511545EIF2B4,GTF3C2-AS2c.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
2g.27366920G>ACA346198198EIF2B4,GTF3C2-AS2c.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
2g.27366920G>CCA346198200EIF2B4,GTF3C2-AS2c.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
2g.27366920G=CA1240244600EIF2B4,GTF3C2-AS2c.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=)
2g.27366920G>TCA425606856EIF2B4,GTF3C2-AS2c.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=)
2g.27366921T>ACA425606857EIF2B4,GTF3C2-AS2c.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=)
2g.27366921T>CCA425606858EIF2B4,GTF3C2-AS2c.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=)
2g.27366921T>GCA425606859EIF2B4,GTF3C2-AS2c.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=)
2g.27366922G>ACA346198203EIF2B4,GTF3C2-AS2c.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)
2g.27366922G>CCA346198204EIF2B4,GTF3C2-AS2c.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)
2g.27366922G>TCA346198206EIF2B4,GTF3C2-AS2c.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
2g.27366923A>CCA346198210EIF2B4,GTF3C2-AS2c.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)
2g.27366923A>GCA346198209EIF2B4,GTF3C2-AS2c.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)
2g.27366923A>TCA346198208EIF2B4,GTF3C2-AS2c.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)
2g.27366924T>ACA425606863EIF2B4,GTF3C2-AS2c.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=)
2g.27366924T>CCA425606864EIF2B4,GTF3C2-AS2c.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=)
2g.27366924T>GCA425606865EIF2B4,GTF3C2-AS2c.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=)
2g.27366925A>CCA346198211EIF2B4,GTF3C2-AS2c.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)
2g.27366925A>GCA346198212EIF2B4,GTF3C2-AS2c.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)
2g.27366925A>TCA346198213EIF2B4,GTF3C2-AS2c.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)
2g.27366926C>ACA1576670EIF2B4,GTF3C2-AS2c.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
2g.27366926C=CA1240244603EIF2B4,GTF3C2-AS2c.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=)
2g.27366926C>GCA346198216EIF2B4,GTF3C2-AS2c.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
2g.27366926C>TCA346198217EIF2B4,GTF3C2-AS2c.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
2g.27366927C>ACA425606870EIF2B4,GTF3C2-AS2c.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=)
2g.27366927C>GCA425606875EIF2B4,GTF3C2-AS2c.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=)
2g.27366927C>TCA425606873EIF2B4,GTF3C2-AS2c.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=)
2g.27366928A>CCA346198218EIF2B4,GTF3C2-AS2c.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)
2g.27366928A>GCA346198222EIF2B4,GTF3C2-AS2c.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
2g.27366928A>TCA346198220EIF2B4,GTF3C2-AS2c.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)
2g.27366931_27366932delCA2699013855EIF2B4,GTF3C2-AS2c.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
2g.27366929G>ACA1576671EIF2B4,GTF3C2-AS2c.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
2g.27366929G>CCA1576672EIF2B4,GTF3C2-AS2c.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
2g.27366929G=CA1240244611EIF2B4,GTF3C2-AS2c.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=)
2g.27366929G>TCA346198224EIF2B4,GTF3C2-AS2c.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
2g.27366930A>CCA425606878EIF2B4,GTF3C2-AS2c.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=)
2g.27366930A>GCA425606879EIF2B4,GTF3C2-AS2c.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
2g.27366930A>TCA425606881EIF2B4,GTF3C2-AS2c.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=)
2g.27366930_27366931delinsAGCA1240244616EIF2B4,GTF3C2-AS2c.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=)

Number of alleles fetched