Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27366782_27366805dupCA2658337467EIF2B4,GTF3C2-AS2c.1155_1178dup (p.Tyr393_Val394insLeuLeuIleProAlaAlaSerTyr)
c.*421_*444dup (n.*421_*444dup)
c.729_752dup
c.1152_1175dup (p.Tyr392_Val393insLeuLeuIleProAlaAlaSerTyr)
c.1215_1238dup (p.Tyr413_Val414insLeuLeuIleProAlaAlaSerTyr)
n.3056_3079dup
c.1218_1241dup (p.Tyr414_Val415insLeuLeuIleProAlaAlaSerTyr)
c.1146_1169dup (p.Tyr390_Val391insLeuLeuIleProAlaAlaSerTyr)
c.1110_1133dup (p.Tyr378_Val379insLeuLeuIleProAlaAlaSerTyr)
c.1107_1130dup (p.Tyr377_Val378insLeuLeuIleProAlaAlaSerTyr)
c.537_560dup (p.Tyr187_Val188insLeuLeuIleProAlaAlaSerTyr)
n.1772-642_1772-619dup
c.1062_1085dup (p.Tyr362_Val363insLeuLeuIleProAlaAlaSerTyr)
c.570_593dup (p.Tyr198_Val199insLeuLeuIleProAlaAlaSerTyr)
 gnomAD v4
2g.27366781G>ACA346197506EIF2B4,GTF3C2-AS2c.1169C>T (p.Ala390Val)
c.*435C>T (n.*435C>T)
c.743C>T
c.1166C>T (p.Ala389Val)
c.1229C>T (p.Ala410Val)
n.3070C>T
c.1232C>T (p.Ala411Val)
c.1160C>T (p.Ala387Val)
c.1124C>T (p.Ala375Val)
c.1121C>T (p.Ala374Val)
c.551C>T (p.Ala184Val)
n.1772-643G>A
c.1076C>T (p.Ala359Val)
c.584C>T (p.Ala195Val)
2g.27366781G>CCA346197507EIF2B4,GTF3C2-AS2c.1169C>G (p.Ala390Gly)
c.*435C>G (n.*435C>G)
c.743C>G
c.1166C>G (p.Ala389Gly)
c.1229C>G (p.Ala410Gly)
n.3070C>G
c.1232C>G (p.Ala411Gly)
c.1160C>G (p.Ala387Gly)
c.1124C>G (p.Ala375Gly)
c.1121C>G (p.Ala374Gly)
c.551C>G (p.Ala184Gly)
n.1772-643G>C
c.1076C>G (p.Ala359Gly)
c.584C>G (p.Ala195Gly)
2g.27366781G>TCA346197509EIF2B4,GTF3C2-AS2c.1169C>A (p.Ala390Glu)
c.*435C>A (n.*435C>A)
c.743C>A
c.1166C>A (p.Ala389Glu)
c.1229C>A (p.Ala410Glu)
n.3070C>A
c.1232C>A (p.Ala411Glu)
c.1160C>A (p.Ala387Glu)
c.1124C>A (p.Ala375Glu)
c.1121C>A (p.Ala374Glu)
c.551C>A (p.Ala184Glu)
n.1772-643G>T
c.1076C>A (p.Ala359Glu)
c.584C>A (p.Ala195Glu)
2g.27366786_27366795dupCA2658337468EIF2B4,GTF3C2-AS2c.1160_1169dup (p.Ala391AspfsTer?)
c.*426_*435dup (n.*426_*435dup)
c.734_743dup
c.1157_1166dup (p.Ala390AspfsTer?)
c.1220_1229dup (p.Ala411AspfsTer?)
n.3061_3070dup
c.1223_1232dup (p.Ala412AspfsTer?)
c.1151_1160dup (p.Ala388AspfsTer?)
c.1115_1124dup (p.Ala376AspfsTer?)
c.1112_1121dup (p.Ala375AspfsTer?)
c.542_551dup (p.Ala185AspfsTer?)
n.1772-638_1772-629dup
c.1067_1076dup (p.Ala360AspfsTer?)
c.575_584dup (p.Ala196AspfsTer?)
 gnomAD v4
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.27366782C>ACA346197510EIF2B4,GTF3C2-AS2c.1168G>T (p.Ala390Ser)
c.*434G>T (n.*434G>T)
c.742G>T
c.1165G>T (p.Ala389Ser)
c.1228G>T (p.Ala410Ser)
n.3069G>T
c.1231G>T (p.Ala411Ser)
c.1159G>T (p.Ala387Ser)
c.1123G>T (p.Ala375Ser)
c.1120G>T (p.Ala374Ser)
c.550G>T (p.Ala184Ser)
n.1772-642C>A
c.1075G>T (p.Ala359Ser)
c.583G>T (p.Ala195Ser)
2g.27366782C>GCA346197512EIF2B4,GTF3C2-AS2c.1168G>C (p.Ala390Pro)
c.*434G>C (n.*434G>C)
c.742G>C
c.1165G>C (p.Ala389Pro)
c.1228G>C (p.Ala410Pro)
n.3069G>C
c.1231G>C (p.Ala411Pro)
c.1159G>C (p.Ala387Pro)
c.1123G>C (p.Ala375Pro)
c.1120G>C (p.Ala374Pro)
c.550G>C (p.Ala184Pro)
n.1772-642C>G
c.1075G>C (p.Ala359Pro)
c.583G>C (p.Ala195Pro)
2g.27366782C>TCA346197514EIF2B4,GTF3C2-AS2c.1168G>A (p.Ala390Thr)
c.*434G>A (n.*434G>A)
c.742G>A
c.1165G>A (p.Ala389Thr)
c.1228G>A (p.Ala410Thr)
n.3069G>A
c.1231G>A (p.Ala411Thr)
c.1159G>A (p.Ala387Thr)
c.1123G>A (p.Ala375Thr)
c.1120G>A (p.Ala374Thr)
c.550G>A (p.Ala184Thr)
n.1772-642C>T
c.1075G>A (p.Ala359Thr)
c.583G>A (p.Ala195Thr)
2g.27366783A=CA1240244362EIF2B4,GTF3C2-AS2c.1167T= (p.Pro389=)
c.*433T= (n.*433T=)
c.741T=
c.1164T= (p.Pro388=)
c.1227T= (p.Pro409=)
n.3068T=
c.1230T= (p.Pro410=)
c.1158T= (p.Pro386=)
c.1122T= (p.Pro374=)
c.1119T= (p.Pro373=)
c.549T= (p.Pro183=)
n.1772-641A=
c.1074T= (p.Pro358=)
c.582T= (p.Pro194=)
2g.27366783A>CCA425410534EIF2B4,GTF3C2-AS2c.1167T>G (p.Pro389=)
c.*433T>G (n.*433T>G)
c.741T>G
c.1164T>G (p.Pro388=)
c.1227T>G (p.Pro409=)
n.3068T>G
c.1230T>G (p.Pro410=)
c.1158T>G (p.Pro386=)
c.1122T>G (p.Pro374=)
c.1119T>G (p.Pro373=)
c.549T>G (p.Pro183=)
n.1772-641A>C
c.1074T>G (p.Pro358=)
c.582T>G (p.Pro194=)
2g.27366783A>GCA425410536EIF2B4,GTF3C2-AS2c.1167T>C (p.Pro389=)
c.*433T>C (n.*433T>C)
c.741T>C
c.1164T>C (p.Pro388=)
c.1227T>C (p.Pro409=)
n.3068T>C
c.1230T>C (p.Pro410=)
c.1158T>C (p.Pro386=)
c.1122T>C (p.Pro374=)
c.1119T>C (p.Pro373=)
c.549T>C (p.Pro183=)
n.1772-641A>G
c.1074T>C (p.Pro358=)
c.582T>C (p.Pro194=)
 dbSNP
2g.27366783A>TCA425410538EIF2B4,GTF3C2-AS2c.1167T>A (p.Pro389=)
c.*433T>A (n.*433T>A)
c.741T>A
c.1164T>A (p.Pro388=)
c.1227T>A (p.Pro409=)
n.3068T>A
c.1230T>A (p.Pro410=)
c.1158T>A (p.Pro386=)
c.1122T>A (p.Pro374=)
c.1119T>A (p.Pro373=)
c.549T>A (p.Pro183=)
n.1772-641A>T
c.1074T>A (p.Pro358=)
c.582T>A (p.Pro194=)
2g.27366784G>ACA346197515EIF2B4,GTF3C2-AS2c.1166C>T (p.Pro389Leu)
c.*432C>T (n.*432C>T)
c.740C>T
c.1163C>T (p.Pro388Leu)
c.1226C>T (p.Pro409Leu)
n.3067C>T
c.1229C>T (p.Pro410Leu)
c.1157C>T (p.Pro386Leu)
c.1121C>T (p.Pro374Leu)
c.1118C>T (p.Pro373Leu)
c.548C>T (p.Pro183Leu)
n.1772-640G>A
c.1073C>T (p.Pro358Leu)
c.581C>T (p.Pro194Leu)
 dbSNP
2g.27366784G>CCA346197516EIF2B4,GTF3C2-AS2c.1166C>G (p.Pro389Arg)
c.*432C>G (n.*432C>G)
c.740C>G
c.1163C>G (p.Pro388Arg)
c.1226C>G (p.Pro409Arg)
n.3067C>G
c.1229C>G (p.Pro410Arg)
c.1157C>G (p.Pro386Arg)
c.1121C>G (p.Pro374Arg)
c.1118C>G (p.Pro373Arg)
c.548C>G (p.Pro183Arg)
n.1772-640G>C
c.1073C>G (p.Pro358Arg)
c.581C>G (p.Pro194Arg)
2g.27366784G=CA1240244363EIF2B4,GTF3C2-AS2c.1166C= (p.Pro389=)
c.*432C= (n.*432C=)
c.740C=
c.1163C= (p.Pro388=)
c.1226C= (p.Pro409=)
n.3067C=
c.1229C= (p.Pro410=)
c.1157C= (p.Pro386=)
c.1121C= (p.Pro374=)
c.1118C= (p.Pro373=)
c.548C= (p.Pro183=)
n.1772-640G=
c.1073C= (p.Pro358=)
c.581C= (p.Pro194=)
2g.27366784G>TCA346197518EIF2B4,GTF3C2-AS2c.1166C>A (p.Pro389His)
c.*432C>A (n.*432C>A)
c.740C>A
c.1163C>A (p.Pro388His)
c.1226C>A (p.Pro409His)
n.3067C>A
c.1229C>A (p.Pro410His)
c.1157C>A (p.Pro386His)
c.1121C>A (p.Pro374His)
c.1118C>A (p.Pro373His)
c.548C>A (p.Pro183His)
n.1772-640G>T
c.1073C>A (p.Pro358His)
c.581C>A (p.Pro194His)
2g.27366785G>ACA346197522EIF2B4,GTF3C2-AS2c.1165C>T (p.Pro389Ser)
c.*431C>T (n.*431C>T)
c.739C>T
c.1162C>T (p.Pro388Ser)
c.1225C>T (p.Pro409Ser)
n.3066C>T
c.1228C>T (p.Pro410Ser)
c.1156C>T (p.Pro386Ser)
c.1120C>T (p.Pro374Ser)
c.1117C>T (p.Pro373Ser)
c.547C>T (p.Pro183Ser)
n.1772-639G>A
c.1072C>T (p.Pro358Ser)
c.580C>T (p.Pro194Ser)
2g.27366785G>CCA1576645EIF2B4,GTF3C2-AS2c.1165C>G (p.Pro389Ala)
c.*431C>G (n.*431C>G)
c.739C>G
c.1162C>G (p.Pro388Ala)
c.1225C>G (p.Pro409Ala)
n.3066C>G
c.1228C>G (p.Pro410Ala)
c.1156C>G (p.Pro386Ala)
c.1120C>G (p.Pro374Ala)
c.1117C>G (p.Pro373Ala)
c.547C>G (p.Pro183Ala)
n.1772-639G>C
c.1072C>G (p.Pro358Ala)
c.580C>G (p.Pro194Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27366785G=CA1240244366EIF2B4,GTF3C2-AS2c.1165C= (p.Pro389=)
c.*431C= (n.*431C=)
c.739C=
c.1162C= (p.Pro388=)
c.1225C= (p.Pro409=)
n.3066C=
c.1228C= (p.Pro410=)
c.1156C= (p.Pro386=)
c.1120C= (p.Pro374=)
c.1117C= (p.Pro373=)
c.547C= (p.Pro183=)
n.1772-639G=
c.1072C= (p.Pro358=)
c.580C= (p.Pro194=)
2g.27366785G>TCA346197520EIF2B4,GTF3C2-AS2c.1165C>A (p.Pro389Thr)
c.*431C>A (n.*431C>A)
c.739C>A
c.1162C>A (p.Pro388Thr)
c.1225C>A (p.Pro409Thr)
n.3066C>A
c.1228C>A (p.Pro410Thr)
c.1156C>A (p.Pro386Thr)
c.1120C>A (p.Pro374Thr)
c.1117C>A (p.Pro373Thr)
c.547C>A (p.Pro183Thr)
n.1772-639G>T
c.1072C>A (p.Pro358Thr)
c.580C>A (p.Pro194Thr)
2g.27366786A=CA1240244369EIF2B4,GTF3C2-AS2c.1164T= (p.Ile388=)
c.*430T= (n.*430T=)
c.738T=
c.1161T= (p.Ile387=)
c.1224T= (p.Ile408=)
n.3065T=
c.1227T= (p.Ile409=)
c.1155T= (p.Ile385=)
c.1119T= (p.Ile373=)
c.1116T= (p.Ile372=)
c.546T= (p.Ile182=)
n.1772-638A=
c.1071T= (p.Ile357=)
c.579T= (p.Ile193=)
2g.27366786A>CCA346197523EIF2B4,GTF3C2-AS2c.1164T>G (p.Ile388Met)
c.*430T>G (n.*430T>G)
c.738T>G
c.1161T>G (p.Ile387Met)
c.1224T>G (p.Ile408Met)
n.3065T>G
c.1227T>G (p.Ile409Met)
c.1155T>G (p.Ile385Met)
c.1119T>G (p.Ile373Met)
c.1116T>G (p.Ile372Met)
c.546T>G (p.Ile182Met)
n.1772-638A>C
c.1071T>G (p.Ile357Met)
c.579T>G (p.Ile193Met)
 dbSNP gnomAD v3 gnomAD v4
2g.27366786A>GCA425410540EIF2B4,GTF3C2-AS2c.1164T>C (p.Ile388=)
c.*430T>C (n.*430T>C)
c.738T>C
c.1161T>C (p.Ile387=)
c.1224T>C (p.Ile408=)
n.3065T>C
c.1227T>C (p.Ile409=)
c.1155T>C (p.Ile385=)
c.1119T>C (p.Ile373=)
c.1116T>C (p.Ile372=)
c.546T>C (p.Ile182=)
n.1772-638A>G
c.1071T>C (p.Ile357=)
c.579T>C (p.Ile193=)
2g.27366786A>TCA425410539EIF2B4,GTF3C2-AS2c.1164T>A (p.Ile388=)
c.*430T>A (n.*430T>A)
c.738T>A
c.1161T>A (p.Ile387=)
c.1224T>A (p.Ile408=)
n.3065T>A
c.1227T>A (p.Ile409=)
c.1155T>A (p.Ile385=)
c.1119T>A (p.Ile373=)
c.1116T>A (p.Ile372=)
c.546T>A (p.Ile182=)
n.1772-638A>T
c.1071T>A (p.Ile357=)
c.579T>A (p.Ile193=)
2g.27366787A>CCA346197798EIF2B4,GTF3C2-AS2c.1163T>G (p.Ile388Ser)
c.*429T>G (n.*429T>G)
c.737T>G
c.1160T>G (p.Ile387Ser)
c.1223T>G (p.Ile408Ser)
n.3064T>G
c.1226T>G (p.Ile409Ser)
c.1154T>G (p.Ile385Ser)
c.1118T>G (p.Ile373Ser)
c.1115T>G (p.Ile372Ser)
c.545T>G (p.Ile182Ser)
n.1772-637A>C
c.1070T>G (p.Ile357Ser)
c.578T>G (p.Ile193Ser)
2g.27366787A>GCA346197796EIF2B4,GTF3C2-AS2c.1163T>C (p.Ile388Thr)
c.*429T>C (n.*429T>C)
c.737T>C
c.1160T>C (p.Ile387Thr)
c.1223T>C (p.Ile408Thr)
n.3064T>C
c.1226T>C (p.Ile409Thr)
c.1154T>C (p.Ile385Thr)
c.1118T>C (p.Ile373Thr)
c.1115T>C (p.Ile372Thr)
c.545T>C (p.Ile182Thr)
n.1772-637A>G
c.1070T>C (p.Ile357Thr)
c.578T>C (p.Ile193Thr)
2g.27366787A>TCA346197797EIF2B4,GTF3C2-AS2c.1163T>A (p.Ile388Asn)
c.*429T>A (n.*429T>A)
c.737T>A
c.1160T>A (p.Ile387Asn)
c.1223T>A (p.Ile408Asn)
n.3064T>A
c.1226T>A (p.Ile409Asn)
c.1154T>A (p.Ile385Asn)
c.1118T>A (p.Ile373Asn)
c.1115T>A (p.Ile372Asn)
c.545T>A (p.Ile182Asn)
n.1772-637A>T
c.1070T>A (p.Ile357Asn)
c.578T>A (p.Ile193Asn)
2g.27366788T>ACA346197799EIF2B4,GTF3C2-AS2c.1162A>T (p.Ile388Phe)
c.*428A>T (n.*428A>T)
c.736A>T
c.1159A>T (p.Ile387Phe)
c.1222A>T (p.Ile408Phe)
n.3063A>T
c.1225A>T (p.Ile409Phe)
c.1153A>T (p.Ile385Phe)
c.1117A>T (p.Ile373Phe)
c.1114A>T (p.Ile372Phe)
c.544A>T (p.Ile182Phe)
n.1772-636T>A
c.1069A>T (p.Ile357Phe)
c.577A>T (p.Ile193Phe)
2g.27366788T>CCA346197800EIF2B4,GTF3C2-AS2c.1162A>G (p.Ile388Val)
c.*428A>G (n.*428A>G)
c.736A>G
c.1159A>G (p.Ile387Val)
c.1222A>G (p.Ile408Val)
n.3063A>G
c.1225A>G (p.Ile409Val)
c.1153A>G (p.Ile385Val)
c.1117A>G (p.Ile373Val)
c.1114A>G (p.Ile372Val)
c.544A>G (p.Ile182Val)
n.1772-636T>C
c.1069A>G (p.Ile357Val)
c.577A>G (p.Ile193Val)
2g.27366788T>GCA346197801EIF2B4,GTF3C2-AS2c.1162A>C (p.Ile388Leu)
c.*428A>C (n.*428A>C)
c.736A>C
c.1159A>C (p.Ile387Leu)
c.1222A>C (p.Ile408Leu)
n.3063A>C
c.1225A>C (p.Ile409Leu)
c.1153A>C (p.Ile385Leu)
c.1117A>C (p.Ile373Leu)
c.1114A>C (p.Ile372Leu)
c.544A>C (p.Ile182Leu)
n.1772-636T>G
c.1069A>C (p.Ile357Leu)
c.577A>C (p.Ile193Leu)
2g.27366789C>ACA425606498EIF2B4,GTF3C2-AS2c.1161G>T (p.Leu387=)
c.*427G>T (n.*427G>T)
c.735G>T
c.1158G>T (p.Leu386=)
c.1221G>T (p.Leu407=)
n.3062G>T
c.1224G>T (p.Leu408=)
c.1152G>T (p.Leu384=)
c.1116G>T (p.Leu372=)
c.1113G>T (p.Leu371=)
c.543G>T (p.Leu181=)
n.1772-635C>A
c.1068G>T (p.Leu356=)
c.576G>T (p.Leu192=)
2g.27366789C>GCA425606497EIF2B4,GTF3C2-AS2c.1161G>C (p.Leu387=)
c.*427G>C (n.*427G>C)
c.735G>C
c.1158G>C (p.Leu386=)
c.1221G>C (p.Leu407=)
n.3062G>C
c.1224G>C (p.Leu408=)
c.1152G>C (p.Leu384=)
c.1116G>C (p.Leu372=)
c.1113G>C (p.Leu371=)
c.543G>C (p.Leu181=)
n.1772-635C>G
c.1068G>C (p.Leu356=)
c.576G>C (p.Leu192=)
2g.27366789C>TCA425606496EIF2B4,GTF3C2-AS2c.1161G>A (p.Leu387=)
c.*427G>A (n.*427G>A)
c.735G>A
c.1158G>A (p.Leu386=)
c.1221G>A (p.Leu407=)
n.3062G>A
c.1224G>A (p.Leu408=)
c.1152G>A (p.Leu384=)
c.1116G>A (p.Leu372=)
c.1113G>A (p.Leu371=)
c.543G>A (p.Leu181=)
n.1772-635C>T
c.1068G>A (p.Leu356=)
c.576G>A (p.Leu192=)
2g.27366790A>CCA346197802EIF2B4,GTF3C2-AS2c.1160T>G (p.Leu387Arg)
c.*426T>G (n.*426T>G)
c.734T>G
c.1157T>G (p.Leu386Arg)
c.1220T>G (p.Leu407Arg)
n.3061T>G
c.1223T>G (p.Leu408Arg)
c.1151T>G (p.Leu384Arg)
c.1115T>G (p.Leu372Arg)
c.1112T>G (p.Leu371Arg)
c.542T>G (p.Leu181Arg)
n.1772-634A>C
c.1067T>G (p.Leu356Arg)
c.575T>G (p.Leu192Arg)
2g.27366790A>GCA346197803EIF2B4,GTF3C2-AS2c.1160T>C (p.Leu387Pro)
c.*426T>C (n.*426T>C)
c.734T>C
c.1157T>C (p.Leu386Pro)
c.1220T>C (p.Leu407Pro)
n.3061T>C
c.1223T>C (p.Leu408Pro)
c.1151T>C (p.Leu384Pro)
c.1115T>C (p.Leu372Pro)
c.1112T>C (p.Leu371Pro)
c.542T>C (p.Leu181Pro)
n.1772-634A>G
c.1067T>C (p.Leu356Pro)
c.575T>C (p.Leu192Pro)
2g.27366790A>TCA346197804EIF2B4,GTF3C2-AS2c.1160T>A (p.Leu387Gln)
c.*426T>A (n.*426T>A)
c.734T>A
c.1157T>A (p.Leu386Gln)
c.1220T>A (p.Leu407Gln)
n.3061T>A
c.1223T>A (p.Leu408Gln)
c.1151T>A (p.Leu384Gln)
c.1115T>A (p.Leu372Gln)
c.1112T>A (p.Leu371Gln)
c.542T>A (p.Leu181Gln)
n.1772-634A>T
c.1067T>A (p.Leu356Gln)
c.575T>A (p.Leu192Gln)
2g.27366791G>ACA425606502EIF2B4,GTF3C2-AS2c.1159C>T (p.Leu387=)
c.*425C>T (n.*425C>T)
c.733C>T
c.1156C>T (p.Leu386=)
c.1219C>T (p.Leu407=)
n.3060C>T
c.1222C>T (p.Leu408=)
c.1150C>T (p.Leu384=)
c.1114C>T (p.Leu372=)
c.1111C>T (p.Leu371=)
c.541C>T (p.Leu181=)
n.1772-633G>A
c.1066C>T (p.Leu356=)
c.574C>T (p.Leu192=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.27366791G>CCA346197805EIF2B4,GTF3C2-AS2c.1159C>G (p.Leu387Val)
c.*425C>G (n.*425C>G)
c.733C>G
c.1156C>G (p.Leu386Val)
c.1219C>G (p.Leu407Val)
n.3060C>G
c.1222C>G (p.Leu408Val)
c.1150C>G (p.Leu384Val)
c.1114C>G (p.Leu372Val)
c.1111C>G (p.Leu371Val)
c.541C>G (p.Leu181Val)
n.1772-633G>C
c.1066C>G (p.Leu356Val)
c.574C>G (p.Leu192Val)
 gnomAD v4
2g.27366791G=CA1240244373EIF2B4,GTF3C2-AS2c.1159C= (p.Leu387=)
c.*425C= (n.*425C=)
c.733C=
c.1156C= (p.Leu386=)
c.1219C= (p.Leu407=)
n.3060C=
c.1222C= (p.Leu408=)
c.1150C= (p.Leu384=)
c.1114C= (p.Leu372=)
c.1111C= (p.Leu371=)
c.541C= (p.Leu181=)
n.1772-633G=
c.1066C= (p.Leu356=)
c.574C= (p.Leu192=)
2g.27366791G>TCA346197806EIF2B4,GTF3C2-AS2c.1159C>A (p.Leu387Met)
c.*425C>A (n.*425C>A)
c.733C>A
c.1156C>A (p.Leu386Met)
c.1219C>A (p.Leu407Met)
n.3060C>A
c.1222C>A (p.Leu408Met)
c.1150C>A (p.Leu384Met)
c.1114C>A (p.Leu372Met)
c.1111C>A (p.Leu371Met)
c.541C>A (p.Leu181Met)
n.1772-633G>T
c.1066C>A (p.Leu356Met)
c.574C>A (p.Leu192Met)
2g.27366792C>ACA425606503EIF2B4,GTF3C2-AS2c.1158G>T (p.Leu386=)
c.*424G>T (n.*424G>T)
c.732G>T
c.1155G>T (p.Leu385=)
c.1218G>T (p.Leu406=)
n.3059G>T
c.1221G>T (p.Leu407=)
c.1149G>T (p.Leu383=)
c.1113G>T (p.Leu371=)
c.1110G>T (p.Leu370=)
c.540G>T (p.Leu180=)
n.1772-632C>A
c.1065G>T (p.Leu355=)
c.573G>T (p.Leu191=)
2g.27366792C>GCA425606506EIF2B4,GTF3C2-AS2c.1158G>C (p.Leu386=)
c.*424G>C (n.*424G>C)
c.732G>C
c.1155G>C (p.Leu385=)
c.1218G>C (p.Leu406=)
n.3059G>C
c.1221G>C (p.Leu407=)
c.1149G>C (p.Leu383=)
c.1113G>C (p.Leu371=)
c.1110G>C (p.Leu370=)
c.540G>C (p.Leu180=)
n.1772-632C>G
c.1065G>C (p.Leu355=)
c.573G>C (p.Leu191=)
2g.27366792C>TCA425606504EIF2B4,GTF3C2-AS2c.1158G>A (p.Leu386=)
c.*424G>A (n.*424G>A)
c.732G>A
c.1155G>A (p.Leu385=)
c.1218G>A (p.Leu406=)
n.3059G>A
c.1221G>A (p.Leu407=)
c.1149G>A (p.Leu383=)
c.1113G>A (p.Leu371=)
c.1110G>A (p.Leu370=)
c.540G>A (p.Leu180=)
n.1772-632C>T
c.1065G>A (p.Leu355=)
c.573G>A (p.Leu191=)
2g.27366793A>CCA346197807EIF2B4,GTF3C2-AS2c.1157T>G (p.Leu386Arg)
c.*423T>G (n.*423T>G)
c.731T>G
c.1154T>G (p.Leu385Arg)
c.1217T>G (p.Leu406Arg)
n.3058T>G
c.1220T>G (p.Leu407Arg)
c.1148T>G (p.Leu383Arg)
c.1112T>G (p.Leu371Arg)
c.1109T>G (p.Leu370Arg)
c.539T>G (p.Leu180Arg)
n.1772-631A>C
c.1064T>G (p.Leu355Arg)
c.572T>G (p.Leu191Arg)
2g.27366793A>GCA346197808EIF2B4,GTF3C2-AS2c.1157T>C (p.Leu386Pro)
c.*423T>C (n.*423T>C)
c.731T>C
c.1154T>C (p.Leu385Pro)
c.1217T>C (p.Leu406Pro)
n.3058T>C
c.1220T>C (p.Leu407Pro)
c.1148T>C (p.Leu383Pro)
c.1112T>C (p.Leu371Pro)
c.1109T>C (p.Leu370Pro)
c.539T>C (p.Leu180Pro)
n.1772-631A>G
c.1064T>C (p.Leu355Pro)
c.572T>C (p.Leu191Pro)
2g.27366793A>TCA346197809EIF2B4,GTF3C2-AS2c.1157T>A (p.Leu386Gln)
c.*423T>A (n.*423T>A)
c.731T>A
c.1154T>A (p.Leu385Gln)
c.1217T>A (p.Leu406Gln)
n.3058T>A
c.1220T>A (p.Leu407Gln)
c.1148T>A (p.Leu383Gln)
c.1112T>A (p.Leu371Gln)
c.1109T>A (p.Leu370Gln)
c.539T>A (p.Leu180Gln)
n.1772-631A>T
c.1064T>A (p.Leu355Gln)
c.572T>A (p.Leu191Gln)
2g.27366794G>ACA425606507EIF2B4,GTF3C2-AS2c.1156C>T (p.Leu386=)
c.*422C>T (n.*422C>T)
c.730C>T
c.1153C>T (p.Leu385=)
c.1216C>T (p.Leu406=)
n.3057C>T
c.1219C>T (p.Leu407=)
c.1147C>T (p.Leu383=)
c.1111C>T (p.Leu371=)
c.1108C>T (p.Leu370=)
c.538C>T (p.Leu180=)
n.1772-630G>A
c.1063C>T (p.Leu355=)
c.571C>T (p.Leu191=)
2g.27366794G>CCA346197811EIF2B4,GTF3C2-AS2c.1156C>G (p.Leu386Val)
c.*422C>G (n.*422C>G)
c.730C>G
c.1153C>G (p.Leu385Val)
c.1216C>G (p.Leu406Val)
n.3057C>G
c.1219C>G (p.Leu407Val)
c.1147C>G (p.Leu383Val)
c.1111C>G (p.Leu371Val)
c.1108C>G (p.Leu370Val)
c.538C>G (p.Leu180Val)
n.1772-630G>C
c.1063C>G (p.Leu355Val)
c.571C>G (p.Leu191Val)
2g.27366794G>TCA346197810EIF2B4,GTF3C2-AS2c.1156C>A (p.Leu386Met)
c.*422C>A (n.*422C>A)
c.730C>A
c.1153C>A (p.Leu385Met)
c.1216C>A (p.Leu406Met)
n.3057C>A
c.1219C>A (p.Leu407Met)
c.1147C>A (p.Leu383Met)
c.1111C>A (p.Leu371Met)
c.1108C>A (p.Leu370Met)
c.538C>A (p.Leu180Met)
n.1772-630G>T
c.1063C>A (p.Leu355Met)
c.571C>A (p.Leu191Met)
2g.27366795G>ACA1576646EIF2B4,GTF3C2-AS2c.1155C>T (p.Tyr385=)
c.*421C>T (n.*421C>T)
c.729C>T
c.1152C>T (p.Tyr384=)
c.1215C>T (p.Tyr405=)
n.3056C>T
c.1218C>T (p.Tyr406=)
c.1146C>T (p.Tyr382=)
c.1110C>T (p.Tyr370=)
c.1107C>T (p.Tyr369=)
c.537C>T (p.Tyr179=)
n.1772-629G>A
c.1062C>T (p.Tyr354=)
c.570C>T (p.Tyr190=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27366795G>CCA346197812EIF2B4,GTF3C2-AS2c.1155C>G (p.Tyr385Ter)
c.*421C>G (n.*421C>G)
c.729C>G
c.1152C>G (p.Tyr384Ter)
c.1215C>G (p.Tyr405Ter)
n.3056C>G
c.1218C>G (p.Tyr406Ter)
c.1146C>G (p.Tyr382Ter)
c.1110C>G (p.Tyr370Ter)
c.1107C>G (p.Tyr369Ter)
c.537C>G (p.Tyr179Ter)
n.1772-629G>C
c.1062C>G (p.Tyr354Ter)
c.570C>G (p.Tyr190Ter)
2g.27366795G=CA1240244377EIF2B4,GTF3C2-AS2c.1155C= (p.Tyr385=)
c.*421C= (n.*421C=)
c.729C=
c.1152C= (p.Tyr384=)
c.1215C= (p.Tyr405=)
n.3056C=
c.1218C= (p.Tyr406=)
c.1146C= (p.Tyr382=)
c.1110C= (p.Tyr370=)
c.1107C= (p.Tyr369=)
c.537C= (p.Tyr179=)
n.1772-629G=
c.1062C= (p.Tyr354=)
c.570C= (p.Tyr190=)
2g.27366795G>TCA346197813EIF2B4,GTF3C2-AS2c.1155C>A (p.Tyr385Ter)
c.*421C>A (n.*421C>A)
c.729C>A
c.1152C>A (p.Tyr384Ter)
c.1215C>A (p.Tyr405Ter)
n.3056C>A
c.1218C>A (p.Tyr406Ter)
c.1146C>A (p.Tyr382Ter)
c.1110C>A (p.Tyr370Ter)
c.1107C>A (p.Tyr369Ter)
c.537C>A (p.Tyr179Ter)
n.1772-629G>T
c.1062C>A (p.Tyr354Ter)
c.570C>A (p.Tyr190Ter)
2g.27366796T>ACA346197814EIF2B4,GTF3C2-AS2c.1154A>T (p.Tyr385Phe)
c.*420A>T (n.*420A>T)
c.728A>T
c.1151A>T (p.Tyr384Phe)
c.1214A>T (p.Tyr405Phe)
n.3055A>T
c.1217A>T (p.Tyr406Phe)
c.1145A>T (p.Tyr382Phe)
c.1109A>T (p.Tyr370Phe)
c.1106A>T (p.Tyr369Phe)
c.536A>T (p.Tyr179Phe)
n.1772-628T>A
c.1061A>T (p.Tyr354Phe)
c.569A>T (p.Tyr190Phe)
2g.27366796T>CCA346197815EIF2B4,GTF3C2-AS2c.1154A>G (p.Tyr385Cys)
c.*420A>G (n.*420A>G)
c.728A>G
c.1151A>G (p.Tyr384Cys)
c.1214A>G (p.Tyr405Cys)
n.3055A>G
c.1217A>G (p.Tyr406Cys)
c.1145A>G (p.Tyr382Cys)
c.1109A>G (p.Tyr370Cys)
c.1106A>G (p.Tyr369Cys)
c.536A>G (p.Tyr179Cys)
n.1772-628T>C
c.1061A>G (p.Tyr354Cys)
c.569A>G (p.Tyr190Cys)
2g.27366796T>GCA346197816EIF2B4,GTF3C2-AS2c.1154A>C (p.Tyr385Ser)
c.*420A>C (n.*420A>C)
c.728A>C
c.1151A>C (p.Tyr384Ser)
c.1214A>C (p.Tyr405Ser)
n.3055A>C
c.1217A>C (p.Tyr406Ser)
c.1145A>C (p.Tyr382Ser)
c.1109A>C (p.Tyr370Ser)
c.1106A>C (p.Tyr369Ser)
c.536A>C (p.Tyr179Ser)
n.1772-628T>G
c.1061A>C (p.Tyr354Ser)
c.569A>C (p.Tyr190Ser)
2g.27366797A>CCA346197817EIF2B4,GTF3C2-AS2c.1153T>G (p.Tyr385Asp)
c.*419T>G (n.*419T>G)
c.727T>G
c.1150T>G (p.Tyr384Asp)
c.1213T>G (p.Tyr405Asp)
n.3054T>G
c.1216T>G (p.Tyr406Asp)
c.1144T>G (p.Tyr382Asp)
c.1108T>G (p.Tyr370Asp)
c.1105T>G (p.Tyr369Asp)
c.535T>G (p.Tyr179Asp)
n.1772-627A>C
c.1060T>G (p.Tyr354Asp)
c.568T>G (p.Tyr190Asp)
2g.27366797A>GCA346197818EIF2B4,GTF3C2-AS2c.1153T>C (p.Tyr385His)
c.*419T>C (n.*419T>C)
c.727T>C
c.1150T>C (p.Tyr384His)
c.1213T>C (p.Tyr405His)
n.3054T>C
c.1216T>C (p.Tyr406His)
c.1144T>C (p.Tyr382His)
c.1108T>C (p.Tyr370His)
c.1105T>C (p.Tyr369His)
c.535T>C (p.Tyr179His)
n.1772-627A>G
c.1060T>C (p.Tyr354His)
c.568T>C (p.Tyr190His)
2g.27366797A>TCA346197819EIF2B4,GTF3C2-AS2c.1153T>A (p.Tyr385Asn)
c.*419T>A (n.*419T>A)
c.727T>A
c.1150T>A (p.Tyr384Asn)
c.1213T>A (p.Tyr405Asn)
n.3054T>A
c.1216T>A (p.Tyr406Asn)
c.1144T>A (p.Tyr382Asn)
c.1108T>A (p.Tyr370Asn)
c.1105T>A (p.Tyr369Asn)
c.535T>A (p.Tyr179Asn)
n.1772-627A>T
c.1060T>A (p.Tyr354Asn)
c.568T>A (p.Tyr190Asn)
2g.27366798G>ACA425606509EIF2B4,GTF3C2-AS2c.1152C>T (p.Ser384=)
c.*418C>T (n.*418C>T)
c.726C>T
c.1149C>T (p.Ser383=)
c.1212C>T (p.Ser404=)
n.3053C>T
c.1215C>T (p.Ser405=)
c.1143C>T (p.Ser381=)
c.1107C>T (p.Ser369=)
c.1104C>T (p.Ser368=)
c.534C>T (p.Ser178=)
n.1772-626G>A
c.1059C>T (p.Ser353=)
c.567C>T (p.Ser189=)
 ClinVar
2g.27366798G>CCA425606510EIF2B4,GTF3C2-AS2c.1152C>G (p.Ser384=)
c.*418C>G (n.*418C>G)
c.726C>G
c.1149C>G (p.Ser383=)
c.1212C>G (p.Ser404=)
n.3053C>G
c.1215C>G (p.Ser405=)
c.1143C>G (p.Ser381=)
c.1107C>G (p.Ser369=)
c.1104C>G (p.Ser368=)
c.534C>G (p.Ser178=)
n.1772-626G>C
c.1059C>G (p.Ser353=)
c.567C>G (p.Ser189=)
2g.27366798G>TCA425606512EIF2B4,GTF3C2-AS2c.1152C>A (p.Ser384=)
c.*418C>A (n.*418C>A)
c.726C>A
c.1149C>A (p.Ser383=)
c.1212C>A (p.Ser404=)
n.3053C>A
c.1215C>A (p.Ser405=)
c.1143C>A (p.Ser381=)
c.1107C>A (p.Ser369=)
c.1104C>A (p.Ser368=)
c.534C>A (p.Ser178=)
n.1772-626G>T
c.1059C>A (p.Ser353=)
c.567C>A (p.Ser189=)
2g.27366799G>ACA346197820EIF2B4,GTF3C2-AS2c.1151C>T (p.Ser384Phe)
c.*417C>T (n.*417C>T)
c.725C>T
c.1148C>T (p.Ser383Phe)
c.1211C>T (p.Ser404Phe)
n.3052C>T
c.1214C>T (p.Ser405Phe)
c.1142C>T (p.Ser381Phe)
c.1106C>T (p.Ser369Phe)
c.1103C>T (p.Ser368Phe)
c.533C>T (p.Ser178Phe)
n.1772-625G>A
c.1058C>T (p.Ser353Phe)
c.566C>T (p.Ser189Phe)
 COSMIC COSMIC
2g.27366799G>CCA346197821EIF2B4,GTF3C2-AS2c.1151C>G (p.Ser384Cys)
c.*417C>G (n.*417C>G)
c.725C>G
c.1148C>G (p.Ser383Cys)
c.1211C>G (p.Ser404Cys)
n.3052C>G
c.1214C>G (p.Ser405Cys)
c.1142C>G (p.Ser381Cys)
c.1106C>G (p.Ser369Cys)
c.1103C>G (p.Ser368Cys)
c.533C>G (p.Ser178Cys)
n.1772-625G>C
c.1058C>G (p.Ser353Cys)
c.566C>G (p.Ser189Cys)
2g.27366799G>TCA346197822EIF2B4,GTF3C2-AS2c.1151C>A (p.Ser384Tyr)
c.*417C>A (n.*417C>A)
c.725C>A
c.1148C>A (p.Ser383Tyr)
c.1211C>A (p.Ser404Tyr)
n.3052C>A
c.1214C>A (p.Ser405Tyr)
c.1142C>A (p.Ser381Tyr)
c.1106C>A (p.Ser369Tyr)
c.1103C>A (p.Ser368Tyr)
c.533C>A (p.Ser178Tyr)
n.1772-625G>T
c.1058C>A (p.Ser353Tyr)
c.566C>A (p.Ser189Tyr)
2g.27366800A>CCA346197825EIF2B4,GTF3C2-AS2c.1150T>G (p.Ser384Ala)
c.*416T>G (n.*416T>G)
c.724T>G
c.1147T>G (p.Ser383Ala)
c.1210T>G (p.Ser404Ala)
n.3051T>G
c.1213T>G (p.Ser405Ala)
c.1141T>G (p.Ser381Ala)
c.1105T>G (p.Ser369Ala)
c.1102T>G (p.Ser368Ala)
c.532T>G (p.Ser178Ala)
n.1772-624A>C
c.1057T>G (p.Ser353Ala)
c.565T>G (p.Ser189Ala)
2g.27366800A>GCA346197824EIF2B4,GTF3C2-AS2c.1150T>C (p.Ser384Pro)
c.*416T>C (n.*416T>C)
c.724T>C
c.1147T>C (p.Ser383Pro)
c.1210T>C (p.Ser404Pro)
n.3051T>C
c.1213T>C (p.Ser405Pro)
c.1141T>C (p.Ser381Pro)
c.1105T>C (p.Ser369Pro)
c.1102T>C (p.Ser368Pro)
c.532T>C (p.Ser178Pro)
n.1772-624A>G
c.1057T>C (p.Ser353Pro)
c.565T>C (p.Ser189Pro)
2g.27366800A>TCA346197823EIF2B4,GTF3C2-AS2c.1150T>A (p.Ser384Thr)
c.*416T>A (n.*416T>A)
c.724T>A
c.1147T>A (p.Ser383Thr)
c.1210T>A (p.Ser404Thr)
n.3051T>A
c.1213T>A (p.Ser405Thr)
c.1141T>A (p.Ser381Thr)
c.1105T>A (p.Ser369Thr)
c.1102T>A (p.Ser368Thr)
c.532T>A (p.Ser178Thr)
n.1772-624A>T
c.1057T>A (p.Ser353Thr)
c.565T>A (p.Ser189Thr)
2g.27366801G>ACA425606517EIF2B4,GTF3C2-AS2c.1149C>T (p.Ala383=)
c.*415C>T (n.*415C>T)
c.723C>T
c.1146C>T (p.Ala382=)
c.1209C>T (p.Ala403=)
n.3050C>T
c.1212C>T (p.Ala404=)
c.1140C>T (p.Ala380=)
c.1104C>T (p.Ala368=)
c.1101C>T (p.Ala367=)
c.531C>T (p.Ala177=)
n.1772-623G>A
c.1056C>T (p.Ala352=)
c.564C>T (p.Ala188=)
2g.27366801G>CCA425606519EIF2B4,GTF3C2-AS2c.1149C>G (p.Ala383=)
c.*415C>G (n.*415C>G)
c.723C>G
c.1146C>G (p.Ala382=)
c.1209C>G (p.Ala403=)
n.3050C>G
c.1212C>G (p.Ala404=)
c.1140C>G (p.Ala380=)
c.1104C>G (p.Ala368=)
c.1101C>G (p.Ala367=)
c.531C>G (p.Ala177=)
n.1772-623G>C
c.1056C>G (p.Ala352=)
c.564C>G (p.Ala188=)
2g.27366801G>TCA425606520EIF2B4,GTF3C2-AS2c.1149C>A (p.Ala383=)
c.*415C>A (n.*415C>A)
c.723C>A
c.1146C>A (p.Ala382=)
c.1209C>A (p.Ala403=)
n.3050C>A
c.1212C>A (p.Ala404=)
c.1140C>A (p.Ala380=)
c.1104C>A (p.Ala368=)
c.1101C>A (p.Ala367=)
c.531C>A (p.Ala177=)
n.1772-623G>T
c.1056C>A (p.Ala352=)
c.564C>A (p.Ala188=)
2g.27366802G>ACA346197826EIF2B4,GTF3C2-AS2c.1148C>T (p.Ala383Val)
c.*414C>T (n.*414C>T)
c.722C>T
c.1145C>T (p.Ala382Val)
c.1208C>T (p.Ala403Val)
n.3049C>T
c.1211C>T (p.Ala404Val)
c.1139C>T (p.Ala380Val)
c.1103C>T (p.Ala368Val)
c.1100C>T (p.Ala367Val)
c.530C>T (p.Ala177Val)
n.1772-622G>A
c.1055C>T (p.Ala352Val)
c.563C>T (p.Ala188Val)
2g.27366802G>CCA346197827EIF2B4,GTF3C2-AS2c.1148C>G (p.Ala383Gly)
c.*414C>G (n.*414C>G)
c.722C>G
c.1145C>G (p.Ala382Gly)
c.1208C>G (p.Ala403Gly)
n.3049C>G
c.1211C>G (p.Ala404Gly)
c.1139C>G (p.Ala380Gly)
c.1103C>G (p.Ala368Gly)
c.1100C>G (p.Ala367Gly)
c.530C>G (p.Ala177Gly)
n.1772-622G>C
c.1055C>G (p.Ala352Gly)
c.563C>G (p.Ala188Gly)
2g.27366802G>TCA346197828EIF2B4,GTF3C2-AS2c.1148C>A (p.Ala383Asp)
c.*414C>A (n.*414C>A)
c.722C>A
c.1145C>A (p.Ala382Asp)
c.1208C>A (p.Ala403Asp)
n.3049C>A
c.1211C>A (p.Ala404Asp)
c.1139C>A (p.Ala380Asp)
c.1103C>A (p.Ala368Asp)
c.1100C>A (p.Ala367Asp)
c.530C>A (p.Ala177Asp)
n.1772-622G>T
c.1055C>A (p.Ala352Asp)
c.563C>A (p.Ala188Asp)
2g.27366803delCA2658337470EIF2B4,GTF3C2-AS2c.1147del (p.Ala383ProfsTer5)
c.*413del (n.*413del)
c.721del
c.1144del (p.Ala382ProfsTer5)
c.1207del (p.Ala403ProfsTer5)
n.3048del
c.1210del (p.Ala404ProfsTer5)
c.1138del (p.Ala380ProfsTer5)
c.1102del (p.Ala368ProfsTer5)
c.1099del (p.Ala367ProfsTer5)
c.529del (p.Ala177ProfsTer5)
n.1772-621del
c.1054del (p.Ala352ProfsTer5)
c.562del (p.Ala188ProfsTer5)
 gnomAD v4
2g.27366803C>ACA346197829EIF2B4,GTF3C2-AS2c.1147G>T (p.Ala383Ser)
c.*413G>T (n.*413G>T)
c.721G>T
c.1144G>T (p.Ala382Ser)
c.1207G>T (p.Ala403Ser)
n.3048G>T
c.1210G>T (p.Ala404Ser)
c.1138G>T (p.Ala380Ser)
c.1102G>T (p.Ala368Ser)
c.1099G>T (p.Ala367Ser)
c.529G>T (p.Ala177Ser)
n.1772-621C>A
c.1054G>T (p.Ala352Ser)
c.562G>T (p.Ala188Ser)
2g.27366803C>GCA346197830EIF2B4,GTF3C2-AS2c.1147G>C (p.Ala383Pro)
c.*413G>C (n.*413G>C)
c.721G>C
c.1144G>C (p.Ala382Pro)
c.1207G>C (p.Ala403Pro)
n.3048G>C
c.1210G>C (p.Ala404Pro)
c.1138G>C (p.Ala380Pro)
c.1102G>C (p.Ala368Pro)
c.1099G>C (p.Ala367Pro)
c.529G>C (p.Ala177Pro)
n.1772-621C>G
c.1054G>C (p.Ala352Pro)
c.562G>C (p.Ala188Pro)
2g.27366803C>TCA346197831EIF2B4,GTF3C2-AS2c.1147G>A (p.Ala383Thr)
c.*413G>A (n.*413G>A)
c.721G>A
c.1144G>A (p.Ala382Thr)
c.1207G>A (p.Ala403Thr)
n.3048G>A
c.1210G>A (p.Ala404Thr)
c.1138G>A (p.Ala380Thr)
c.1102G>A (p.Ala368Thr)
c.1099G>A (p.Ala367Thr)
c.529G>A (p.Ala177Thr)
n.1772-621C>T
c.1054G>A (p.Ala352Thr)
c.562G>A (p.Ala188Thr)
2g.27366804T>ACA425606522EIF2B4,GTF3C2-AS2c.1146A>T (p.Pro382=)
c.*412A>T (n.*412A>T)
c.720A>T
c.1143A>T (p.Pro381=)
c.1206A>T (p.Pro402=)
n.3047A>T
c.1209A>T (p.Pro403=)
c.1137A>T (p.Pro379=)
c.1101A>T (p.Pro367=)
c.1098A>T (p.Pro366=)
c.528A>T (p.Pro176=)
n.1772-620T>A
c.1053A>T (p.Pro351=)
c.561A>T (p.Pro187=)
2g.27366804T>CCA425606523EIF2B4,GTF3C2-AS2c.1146A>G (p.Pro382=)
c.*412A>G (n.*412A>G)
c.720A>G
c.1143A>G (p.Pro381=)
c.1206A>G (p.Pro402=)
n.3047A>G
c.1209A>G (p.Pro403=)
c.1137A>G (p.Pro379=)
c.1101A>G (p.Pro367=)
c.1098A>G (p.Pro366=)
c.528A>G (p.Pro176=)
n.1772-620T>C
c.1053A>G (p.Pro351=)
c.561A>G (p.Pro187=)
 ClinVar
2g.27366804T>GCA425606525EIF2B4,GTF3C2-AS2c.1146A>C (p.Pro382=)
c.*412A>C (n.*412A>C)
c.720A>C
c.1143A>C (p.Pro381=)
c.1206A>C (p.Pro402=)
n.3047A>C
c.1209A>C (p.Pro403=)
c.1137A>C (p.Pro379=)
c.1101A>C (p.Pro367=)
c.1098A>C (p.Pro366=)
c.528A>C (p.Pro176=)
n.1772-620T>G
c.1053A>C (p.Pro351=)
c.561A>C (p.Pro187=)
2g.27366805G>ACA346197832EIF2B4,GTF3C2-AS2c.1145C>T (p.Pro382Leu)
c.*411C>T (n.*411C>T)
c.719C>T
c.1142C>T (p.Pro381Leu)
c.1205C>T (p.Pro402Leu)
n.3046C>T
c.1208C>T (p.Pro403Leu)
c.1136C>T (p.Pro379Leu)
c.1100C>T (p.Pro367Leu)
c.1097C>T (p.Pro366Leu)
c.527C>T (p.Pro176Leu)
n.1772-619G>A
c.1052C>T (p.Pro351Leu)
c.560C>T (p.Pro187Leu)
 ClinVar
2g.27366805G>CCA346197833EIF2B4,GTF3C2-AS2c.1145C>G (p.Pro382Arg)
c.*411C>G (n.*411C>G)
c.719C>G
c.1142C>G (p.Pro381Arg)
c.1205C>G (p.Pro402Arg)
n.3046C>G
c.1208C>G (p.Pro403Arg)
c.1136C>G (p.Pro379Arg)
c.1100C>G (p.Pro367Arg)
c.1097C>G (p.Pro366Arg)
c.527C>G (p.Pro176Arg)
n.1772-619G>C
c.1052C>G (p.Pro351Arg)
c.560C>G (p.Pro187Arg)
2g.27366805G>TCA346197834EIF2B4,GTF3C2-AS2c.1145C>A (p.Pro382Gln)
c.*411C>A (n.*411C>A)
c.719C>A
c.1142C>A (p.Pro381Gln)
c.1205C>A (p.Pro402Gln)
n.3046C>A
c.1208C>A (p.Pro403Gln)
c.1136C>A (p.Pro379Gln)
c.1100C>A (p.Pro367Gln)
c.1097C>A (p.Pro366Gln)
c.527C>A (p.Pro176Gln)
n.1772-619G>T
c.1052C>A (p.Pro351Gln)
c.560C>A (p.Pro187Gln)
 COSMIC COSMIC
2g.27366806G>ACA346197835EIF2B4,GTF3C2-AS2c.1144C>T (p.Pro382Ser)
c.*410C>T (n.*410C>T)
c.718C>T
c.1141C>T (p.Pro381Ser)
c.1204C>T (p.Pro402Ser)
n.3045C>T
c.1207C>T (p.Pro403Ser)
c.1135C>T (p.Pro379Ser)
c.1099C>T (p.Pro367Ser)
c.1096C>T (p.Pro366Ser)
c.526C>T (p.Pro176Ser)
n.1772-618G>A
c.1051C>T (p.Pro351Ser)
c.559C>T (p.Pro187Ser)
2g.27366806G>CCA346197836EIF2B4,GTF3C2-AS2c.1144C>G (p.Pro382Ala)
c.*410C>G (n.*410C>G)
c.718C>G
c.1141C>G (p.Pro381Ala)
c.1204C>G (p.Pro402Ala)
n.3045C>G
c.1207C>G (p.Pro403Ala)
c.1135C>G (p.Pro379Ala)
c.1099C>G (p.Pro367Ala)
c.1096C>G (p.Pro366Ala)
c.526C>G (p.Pro176Ala)
n.1772-618G>C
c.1051C>G (p.Pro351Ala)
c.559C>G (p.Pro187Ala)
2g.27366806G>TCA346197837EIF2B4,GTF3C2-AS2c.1144C>A (p.Pro382Thr)
c.*410C>A (n.*410C>A)
c.718C>A
c.1141C>A (p.Pro381Thr)
c.1204C>A (p.Pro402Thr)
n.3045C>A
c.1207C>A (p.Pro403Thr)
c.1135C>A (p.Pro379Thr)
c.1099C>A (p.Pro367Thr)
c.1096C>A (p.Pro366Thr)
c.526C>A (p.Pro176Thr)
n.1772-618G>T
c.1051C>A (p.Pro351Thr)
c.559C>A (p.Pro187Thr)
2g.27366807G>ACA1576647EIF2B4,GTF3C2-AS2c.1143C>T (p.Val381=)
c.*409C>T (n.*409C>T)
c.717C>T
c.1140C>T (p.Val380=)
c.1203C>T (p.Val401=)
n.3044C>T
c.1206C>T (p.Val402=)
c.1134C>T (p.Val378=)
c.1098C>T (p.Val366=)
c.1095C>T (p.Val365=)
c.525C>T (p.Val175=)
n.1772-617G>A
c.1050C>T (p.Val350=)
c.558C>T (p.Val186=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27366807G>CCA425606535EIF2B4,GTF3C2-AS2c.1143C>G (p.Val381=)
c.*409C>G (n.*409C>G)
c.717C>G
c.1140C>G (p.Val380=)
c.1203C>G (p.Val401=)
n.3044C>G
c.1206C>G (p.Val402=)
c.1134C>G (p.Val378=)
c.1098C>G (p.Val366=)
c.1095C>G (p.Val365=)
c.525C>G (p.Val175=)
n.1772-617G>C
c.1050C>G (p.Val350=)
c.558C>G (p.Val186=)
2g.27366807G=CA1240244383EIF2B4,GTF3C2-AS2c.1143C= (p.Val381=)
c.*409C= (n.*409C=)
c.717C=
c.1140C= (p.Val380=)
c.1203C= (p.Val401=)
n.3044C=
c.1206C= (p.Val402=)
c.1134C= (p.Val378=)
c.1098C= (p.Val366=)
c.1095C= (p.Val365=)
c.525C= (p.Val175=)
n.1772-617G=
c.1050C= (p.Val350=)
c.558C= (p.Val186=)
2g.27366807G>TCA425606532EIF2B4,GTF3C2-AS2c.1143C>A (p.Val381=)
c.*409C>A (n.*409C>A)
c.717C>A
c.1140C>A (p.Val380=)
c.1203C>A (p.Val401=)
n.3044C>A
c.1206C>A (p.Val402=)
c.1134C>A (p.Val378=)
c.1098C>A (p.Val366=)
c.1095C>A (p.Val365=)
c.525C>A (p.Val175=)
n.1772-617G>T
c.1050C>A (p.Val350=)
c.558C>A (p.Val186=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.27366808A>CCA346197840EIF2B4,GTF3C2-AS2c.1142T>G (p.Val381Gly)
c.*408T>G (n.*408T>G)
c.716T>G
c.1139T>G (p.Val380Gly)
c.1202T>G (p.Val401Gly)
n.3043T>G
c.1205T>G (p.Val402Gly)
c.1133T>G (p.Val378Gly)
c.1097T>G (p.Val366Gly)
c.1094T>G (p.Val365Gly)
c.524T>G (p.Val175Gly)
n.1772-616A>C
c.1049T>G (p.Val350Gly)
c.557T>G (p.Val186Gly)
2g.27366808A>GCA346197838EIF2B4,GTF3C2-AS2c.1142T>C (p.Val381Ala)
c.*408T>C (n.*408T>C)
c.716T>C
c.1139T>C (p.Val380Ala)
c.1202T>C (p.Val401Ala)
n.3043T>C
c.1205T>C (p.Val402Ala)
c.1133T>C (p.Val378Ala)
c.1097T>C (p.Val366Ala)
c.1094T>C (p.Val365Ala)
c.524T>C (p.Val175Ala)
n.1772-616A>G
c.1049T>C (p.Val350Ala)
c.557T>C (p.Val186Ala)
2g.27366808A>TCA346197839EIF2B4,GTF3C2-AS2c.1142T>A (p.Val381Asp)
c.*408T>A (n.*408T>A)
c.716T>A
c.1139T>A (p.Val380Asp)
c.1202T>A (p.Val401Asp)
n.3043T>A
c.1205T>A (p.Val402Asp)
c.1133T>A (p.Val378Asp)
c.1097T>A (p.Val366Asp)
c.1094T>A (p.Val365Asp)
c.524T>A (p.Val175Asp)
n.1772-616A>T
c.1049T>A (p.Val350Asp)
c.557T>A (p.Val186Asp)
2g.27366809C>ACA346197841EIF2B4,GTF3C2-AS2c.1141G>T (p.Val381Phe)
c.*407G>T (n.*407G>T)
c.715G>T
c.1138G>T (p.Val380Phe)
c.1201G>T (p.Val401Phe)
n.3042G>T
c.1204G>T (p.Val402Phe)
c.1132G>T (p.Val378Phe)
c.1096G>T (p.Val366Phe)
c.1093G>T (p.Val365Phe)
c.523G>T (p.Val175Phe)
n.1772-615C>A
c.1048G>T (p.Val350Phe)
c.556G>T (p.Val186Phe)
2g.27366809C=CA1240244390EIF2B4,GTF3C2-AS2c.1141G= (p.Val381=)
c.*407G= (n.*407G=)
c.715G=
c.1138G= (p.Val380=)
c.1201G= (p.Val401=)
n.3042G=
c.1204G= (p.Val402=)
c.1132G= (p.Val378=)
c.1096G= (p.Val366=)
c.1093G= (p.Val365=)
c.523G= (p.Val175=)
n.1772-615C=
c.1048G= (p.Val350=)
c.556G= (p.Val186=)
2g.27366809C>GCA346197842EIF2B4,GTF3C2-AS2c.1141G>C (p.Val381Leu)
c.*407G>C (n.*407G>C)
c.715G>C
c.1138G>C (p.Val380Leu)
c.1201G>C (p.Val401Leu)
n.3042G>C
c.1204G>C (p.Val402Leu)
c.1132G>C (p.Val378Leu)
c.1096G>C (p.Val366Leu)
c.1093G>C (p.Val365Leu)
c.523G>C (p.Val175Leu)
n.1772-615C>G
c.1048G>C (p.Val350Leu)
c.556G>C (p.Val186Leu)
2g.27366809C>TCA346197843EIF2B4,GTF3C2-AS2c.1141G>A (p.Val381Ile)
c.*407G>A (n.*407G>A)
c.715G>A
c.1138G>A (p.Val380Ile)
c.1201G>A (p.Val401Ile)
n.3042G>A
c.1204G>A (p.Val402Ile)
c.1132G>A (p.Val378Ile)
c.1096G>A (p.Val366Ile)
c.1093G>A (p.Val365Ile)
c.523G>A (p.Val175Ile)
n.1772-615C>T
c.1048G>A (p.Val350Ile)
c.556G>A (p.Val186Ile)
 dbSNP
2g.27366810A>CCA425606545EIF2B4,GTF3C2-AS2c.1140T>G (p.Gly380=)
c.*406T>G (n.*406T>G)
c.714T>G
c.1137T>G (p.Gly379=)
c.1200T>G (p.Gly400=)
n.3041T>G
c.1203T>G (p.Gly401=)
c.1131T>G (p.Gly377=)
c.1095T>G (p.Gly365=)
c.1092T>G (p.Gly364=)
c.522T>G (p.Gly174=)
n.1772-614A>C
c.1047T>G (p.Gly349=)
c.555T>G (p.Gly185=)
2g.27366810A>GCA425606543EIF2B4,GTF3C2-AS2c.1140T>C (p.Gly380=)
c.*406T>C (n.*406T>C)
c.714T>C
c.1137T>C (p.Gly379=)
c.1200T>C (p.Gly400=)
n.3041T>C
c.1203T>C (p.Gly401=)
c.1131T>C (p.Gly377=)
c.1095T>C (p.Gly365=)
c.1092T>C (p.Gly364=)
c.522T>C (p.Gly174=)
n.1772-614A>G
c.1047T>C (p.Gly349=)
c.555T>C (p.Gly185=)
2g.27366810A>TCA425606544EIF2B4,GTF3C2-AS2c.1140T>A (p.Gly380=)
c.*406T>A (n.*406T>A)
c.714T>A
c.1137T>A (p.Gly379=)
c.1200T>A (p.Gly400=)
n.3041T>A
c.1203T>A (p.Gly401=)
c.1131T>A (p.Gly377=)
c.1095T>A (p.Gly365=)
c.1092T>A (p.Gly364=)
c.522T>A (p.Gly174=)
n.1772-614A>T
c.1047T>A (p.Gly349=)
c.555T>A (p.Gly185=)
2g.27366811C>ACA346197844EIF2B4,GTF3C2-AS2c.1139G>T (p.Gly380Val)
c.*405G>T (n.*405G>T)
c.713G>T
c.1136G>T (p.Gly379Val)
c.1199G>T (p.Gly400Val)
n.3040G>T
c.1202G>T (p.Gly401Val)
c.1130G>T (p.Gly377Val)
c.1094G>T (p.Gly365Val)
c.1091G>T (p.Gly364Val)
c.521G>T (p.Gly174Val)
n.1772-613C>A
c.1046G>T (p.Gly349Val)
c.554G>T (p.Gly185Val)
2g.27366811C=CA1240244394EIF2B4,GTF3C2-AS2c.1139G= (p.Gly380=)
c.*405G= (n.*405G=)
c.713G=
c.1136G= (p.Gly379=)
c.1199G= (p.Gly400=)
n.3040G=
c.1202G= (p.Gly401=)
c.1130G= (p.Gly377=)
c.1094G= (p.Gly365=)
c.1091G= (p.Gly364=)
c.521G= (p.Gly174=)
n.1772-613C=
c.1046G= (p.Gly349=)
c.554G= (p.Gly185=)
2g.27366811C>GCA346197845EIF2B4,GTF3C2-AS2c.1139G>C (p.Gly380Ala)
c.*405G>C (n.*405G>C)
c.713G>C
c.1136G>C (p.Gly379Ala)
c.1199G>C (p.Gly400Ala)
n.3040G>C
c.1202G>C (p.Gly401Ala)
c.1130G>C (p.Gly377Ala)
c.1094G>C (p.Gly365Ala)
c.1091G>C (p.Gly364Ala)
c.521G>C (p.Gly174Ala)
n.1772-613C>G
c.1046G>C (p.Gly349Ala)
c.554G>C (p.Gly185Ala)
2g.27366811C>TCA1576648EIF2B4,GTF3C2-AS2c.1139G>A (p.Gly380Asp)
c.*405G>A (n.*405G>A)
c.713G>A
c.1136G>A (p.Gly379Asp)
c.1199G>A (p.Gly400Asp)
n.3040G>A
c.1202G>A (p.Gly401Asp)
c.1130G>A (p.Gly377Asp)
c.1094G>A (p.Gly365Asp)
c.1091G>A (p.Gly364Asp)
c.521G>A (p.Gly174Asp)
n.1772-613C>T
c.1046G>A (p.Gly349Asp)
c.554G>A (p.Gly185Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27366812C>ACA346197846EIF2B4,GTF3C2-AS2c.1138G>T (p.Gly380Cys)
c.*404G>T (n.*404G>T)
c.712G>T
c.1135G>T (p.Gly379Cys)
c.1198G>T (p.Gly400Cys)
n.3039G>T
c.1201G>T (p.Gly401Cys)
c.1129G>T (p.Gly377Cys)
c.1093G>T (p.Gly365Cys)
c.1090G>T (p.Gly364Cys)
c.520G>T (p.Gly174Cys)
n.1772-612C>A
c.1045G>T (p.Gly349Cys)
c.553G>T (p.Gly185Cys)
2g.27366812C=CA1240244397EIF2B4,GTF3C2-AS2c.1138G= (p.Gly380=)
c.*404G= (n.*404G=)
c.712G=
c.1135G= (p.Gly379=)
c.1198G= (p.Gly400=)
n.3039G=
c.1201G= (p.Gly401=)
c.1129G= (p.Gly377=)
c.1093G= (p.Gly365=)
c.1090G= (p.Gly364=)
c.520G= (p.Gly174=)
n.1772-612C=
c.1045G= (p.Gly349=)
c.553G= (p.Gly185=)
2g.27366812C>GCA346197847EIF2B4,GTF3C2-AS2c.1138G>C (p.Gly380Arg)
c.*404G>C (n.*404G>C)
c.712G>C
c.1135G>C (p.Gly379Arg)
c.1198G>C (p.Gly400Arg)
n.3039G>C
c.1201G>C (p.Gly401Arg)
c.1129G>C (p.Gly377Arg)
c.1093G>C (p.Gly365Arg)
c.1090G>C (p.Gly364Arg)
c.520G>C (p.Gly174Arg)
n.1772-612C>G
c.1045G>C (p.Gly349Arg)
c.553G>C (p.Gly185Arg)
2g.27366812C>TCA346197848EIF2B4,GTF3C2-AS2c.1138G>A (p.Gly380Ser)
c.*404G>A (n.*404G>A)
c.712G>A
c.1135G>A (p.Gly379Ser)
c.1198G>A (p.Gly400Ser)
n.3039G>A
c.1201G>A (p.Gly401Ser)
c.1129G>A (p.Gly377Ser)
c.1093G>A (p.Gly365Ser)
c.1090G>A (p.Gly364Ser)
c.520G>A (p.Gly174Ser)
n.1772-612C>T
c.1045G>A (p.Gly349Ser)
c.553G>A (p.Gly185Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.27366812_27366813insTCA2658337471EIF2B4,GTF3C2-AS2c.1137_1138insA (p.Gly380ArgfsTer?)
c.*403_*404insA (n.*403_*404insA)
c.711_712insA
c.1134_1135insA (p.Gly379ArgfsTer?)
c.1197_1198insA (p.Gly400ArgfsTer?)
n.3038_3039insA
c.1200_1201insA (p.Gly401ArgfsTer?)
c.1128_1129insA (p.Gly377ArgfsTer?)
c.1092_1093insA (p.Gly365ArgfsTer?)
c.1089_1090insA (p.Gly364ArgfsTer?)
c.519_520insA (p.Gly174ArgfsTer?)
n.1772-612_1772-611insT
c.1044_1045insA (p.Gly349ArgfsTer?)
c.552_553insA (p.Gly185ArgfsTer?)
 gnomAD v4
2g.27366813A>CCA425606553EIF2B4,GTF3C2-AS2c.1137T>G (p.Ala379=)
c.*403T>G (n.*403T>G)
c.711T>G
c.1134T>G (p.Ala378=)
c.1197T>G (p.Ala399=)
n.3038T>G
c.1200T>G (p.Ala400=)
c.1128T>G (p.Ala376=)
c.1092T>G (p.Ala364=)
c.1089T>G (p.Ala363=)
c.519T>G (p.Ala173=)
n.1772-611A>C
c.1044T>G (p.Ala348=)
c.552T>G (p.Ala184=)
2g.27366813A>GCA425606555EIF2B4,GTF3C2-AS2c.1137T>C (p.Ala379=)
c.*403T>C (n.*403T>C)
c.711T>C
c.1134T>C (p.Ala378=)
c.1197T>C (p.Ala399=)
n.3038T>C
c.1200T>C (p.Ala400=)
c.1128T>C (p.Ala376=)
c.1092T>C (p.Ala364=)
c.1089T>C (p.Ala363=)
c.519T>C (p.Ala173=)
n.1772-611A>G
c.1044T>C (p.Ala348=)
c.552T>C (p.Ala184=)
2g.27366813A>TCA425606554EIF2B4,GTF3C2-AS2c.1137T>A (p.Ala379=)
c.*403T>A (n.*403T>A)
c.711T>A
c.1134T>A (p.Ala378=)
c.1197T>A (p.Ala399=)
n.3038T>A
c.1200T>A (p.Ala400=)
c.1128T>A (p.Ala376=)
c.1092T>A (p.Ala364=)
c.1089T>A (p.Ala363=)
c.519T>A (p.Ala173=)
n.1772-611A>T
c.1044T>A (p.Ala348=)
c.552T>A (p.Ala184=)
2g.27366814G>ACA10614900EIF2B4,GTF3C2-AS2c.1136C>T (p.Ala379Val)
c.*402C>T (n.*402C>T)
c.710C>T
c.1133C>T (p.Ala378Val)
c.1196C>T (p.Ala399Val)
n.3037C>T
c.1199C>T (p.Ala400Val)
c.1127C>T (p.Ala376Val)
c.1091C>T (p.Ala364Val)
c.1088C>T (p.Ala363Val)
c.518C>T (p.Ala173Val)
n.1772-610G>A
c.1043C>T (p.Ala348Val)
c.551C>T (p.Ala184Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.27366814G>CCA346197849EIF2B4,GTF3C2-AS2c.1136C>G (p.Ala379Gly)
c.*402C>G (n.*402C>G)
c.710C>G
c.1133C>G (p.Ala378Gly)
c.1196C>G (p.Ala399Gly)
n.3037C>G
c.1199C>G (p.Ala400Gly)
c.1127C>G (p.Ala376Gly)
c.1091C>G (p.Ala364Gly)
c.1088C>G (p.Ala363Gly)
c.518C>G (p.Ala173Gly)
n.1772-610G>C
c.1043C>G (p.Ala348Gly)
c.551C>G (p.Ala184Gly)
2g.27366814G=CA1240244401EIF2B4,GTF3C2-AS2c.1136C= (p.Ala379=)
c.*402C= (n.*402C=)
c.710C=
c.1133C= (p.Ala378=)
c.1196C= (p.Ala399=)
n.3037C=
c.1199C= (p.Ala400=)
c.1127C= (p.Ala376=)
c.1091C= (p.Ala364=)
c.1088C= (p.Ala363=)
c.518C= (p.Ala173=)
n.1772-610G=
c.1043C= (p.Ala348=)
c.551C= (p.Ala184=)
2g.27366814G>TCA346197850EIF2B4,GTF3C2-AS2c.1136C>A (p.Ala379Asp)
c.*402C>A (n.*402C>A)
c.710C>A
c.1133C>A (p.Ala378Asp)
c.1196C>A (p.Ala399Asp)
n.3037C>A
c.1199C>A (p.Ala400Asp)
c.1127C>A (p.Ala376Asp)
c.1091C>A (p.Ala364Asp)
c.1088C>A (p.Ala363Asp)
c.518C>A (p.Ala173Asp)
n.1772-610G>T
c.1043C>A (p.Ala348Asp)
c.551C>A (p.Ala184Asp)
2g.27366815C>ACA346197853EIF2B4,GTF3C2-AS2c.1135G>T (p.Ala379Ser)
c.*401G>T (n.*401G>T)
c.709G>T
c.1132G>T (p.Ala378Ser)
c.1195G>T (p.Ala399Ser)
n.3036G>T
c.1198G>T (p.Ala400Ser)
c.1126G>T (p.Ala376Ser)
c.1090G>T (p.Ala364Ser)
c.1087G>T (p.Ala363Ser)
c.517G>T (p.Ala173Ser)
n.1772-609C>A
c.1042G>T (p.Ala348Ser)
c.550G>T (p.Ala184Ser)
2g.27366815C>GCA346197852EIF2B4,GTF3C2-AS2c.1135G>C (p.Ala379Pro)
c.*401G>C (n.*401G>C)
c.709G>C
c.1132G>C (p.Ala378Pro)
c.1195G>C (p.Ala399Pro)
n.3036G>C
c.1198G>C (p.Ala400Pro)
c.1126G>C (p.Ala376Pro)
c.1090G>C (p.Ala364Pro)
c.1087G>C (p.Ala363Pro)
c.517G>C (p.Ala173Pro)
n.1772-609C>G
c.1042G>C (p.Ala348Pro)
c.550G>C (p.Ala184Pro)
2g.27366815C>TCA346197851EIF2B4,GTF3C2-AS2c.1135G>A (p.Ala379Thr)
c.*401G>A (n.*401G>A)
c.709G>A
c.1132G>A (p.Ala378Thr)
c.1195G>A (p.Ala399Thr)
n.3036G>A
c.1198G>A (p.Ala400Thr)
c.1126G>A (p.Ala376Thr)
c.1090G>A (p.Ala364Thr)
c.1087G>A (p.Ala363Thr)
c.517G>A (p.Ala173Thr)
n.1772-609C>T
c.1042G>A (p.Ala348Thr)
c.550G>A (p.Ala184Thr)
2g.27366816A=CA1240244405EIF2B4,GTF3C2-AS2c.1134T= (p.His378=)
c.*400T= (n.*400T=)
c.708T=
c.1131T= (p.His377=)
c.1194T= (p.His398=)
n.3035T=
c.1197T= (p.His399=)
c.1125T= (p.His375=)
c.1089T= (p.His363=)
c.1086T= (p.His362=)
c.516T= (p.His172=)
n.1772-608A=
c.1041T= (p.His347=)
c.549T= (p.His183=)
2g.27366816A>CCA346197854EIF2B4,GTF3C2-AS2c.1134T>G (p.His378Gln)
c.*400T>G (n.*400T>G)
c.708T>G
c.1131T>G (p.His377Gln)
c.1194T>G (p.His398Gln)
n.3035T>G
c.1197T>G (p.His399Gln)
c.1125T>G (p.His375Gln)
c.1089T>G (p.His363Gln)
c.1086T>G (p.His362Gln)
c.516T>G (p.His172Gln)
n.1772-608A>C
c.1041T>G (p.His347Gln)
c.549T>G (p.His183Gln)
2g.27366816A>GCA1576649EIF2B4,GTF3C2-AS2c.1134T>C (p.His378=)
c.*400T>C (n.*400T>C)
c.708T>C
c.1131T>C (p.His377=)
c.1194T>C (p.His398=)
n.3035T>C
c.1197T>C (p.His399=)
c.1125T>C (p.His375=)
c.1089T>C (p.His363=)
c.1086T>C (p.His362=)
c.516T>C (p.His172=)
n.1772-608A>G
c.1041T>C (p.His347=)
c.549T>C (p.His183=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27366816A>TCA346197855EIF2B4,GTF3C2-AS2c.1134T>A (p.His378Gln)
c.*400T>A (n.*400T>A)
c.708T>A
c.1131T>A (p.His377Gln)
c.1194T>A (p.His398Gln)
n.3035T>A
c.1197T>A (p.His399Gln)
c.1125T>A (p.His375Gln)
c.1089T>A (p.His363Gln)
c.1086T>A (p.His362Gln)
c.516T>A (p.His172Gln)
n.1772-608A>T
c.1041T>A (p.His347Gln)
c.549T>A (p.His183Gln)
2g.27366817T>ACA346197856EIF2B4,GTF3C2-AS2c.1133A>T (p.His378Leu)
c.*399A>T (n.*399A>T)
c.707A>T
c.1130A>T (p.His377Leu)
c.1193A>T (p.His398Leu)
n.3034A>T
c.1196A>T (p.His399Leu)
c.1124A>T (p.His375Leu)
c.1088A>T (p.His363Leu)
c.1085A>T (p.His362Leu)
c.515A>T (p.His172Leu)
n.1772-607T>A
c.1040A>T (p.His347Leu)
c.548A>T (p.His183Leu)
2g.27366817T>CCA346197858EIF2B4,GTF3C2-AS2c.1133A>G (p.His378Arg)
c.*399A>G (n.*399A>G)
c.707A>G
c.1130A>G (p.His377Arg)
c.1193A>G (p.His398Arg)
n.3034A>G
c.1196A>G (p.His399Arg)
c.1124A>G (p.His375Arg)
c.1088A>G (p.His363Arg)
c.1085A>G (p.His362Arg)
c.515A>G (p.His172Arg)
n.1772-607T>C
c.1040A>G (p.His347Arg)
c.548A>G (p.His183Arg)
 gnomAD v4
2g.27366817T>GCA346197857EIF2B4,GTF3C2-AS2c.1133A>C (p.His378Pro)
c.*399A>C (n.*399A>C)
c.707A>C
c.1130A>C (p.His377Pro)
c.1193A>C (p.His398Pro)
n.3034A>C
c.1196A>C (p.His399Pro)
c.1124A>C (p.His375Pro)
c.1088A>C (p.His363Pro)
c.1085A>C (p.His362Pro)
c.515A>C (p.His172Pro)
n.1772-607T>G
c.1040A>C (p.His347Pro)
c.548A>C (p.His183Pro)
 dbSNP
2g.27366817T=CA1240244410EIF2B4,GTF3C2-AS2c.1133A= (p.His378=)
c.*399A= (n.*399A=)
c.707A=
c.1130A= (p.His377=)
c.1193A= (p.His398=)
n.3034A=
c.1196A= (p.His399=)
c.1124A= (p.His375=)
c.1088A= (p.His363=)
c.1085A= (p.His362=)
c.515A= (p.His172=)
n.1772-607T=
c.1040A= (p.His347=)
c.548A= (p.His183=)
2g.27366818G>ACA346197859EIF2B4,GTF3C2-AS2c.1132C>T (p.His378Tyr)
c.*398C>T (n.*398C>T)
c.706C>T
c.1129C>T (p.His377Tyr)
c.1192C>T (p.His398Tyr)
n.3033C>T
c.1195C>T (p.His399Tyr)
c.1123C>T (p.His375Tyr)
c.1087C>T (p.His363Tyr)
c.1084C>T (p.His362Tyr)
c.514C>T (p.His172Tyr)
n.1772-606G>A
c.1039C>T (p.His347Tyr)
c.547C>T (p.His183Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.27366818G>CCA346197860EIF2B4,GTF3C2-AS2c.1132C>G (p.His378Asp)
c.*398C>G (n.*398C>G)
c.706C>G
c.1129C>G (p.His377Asp)
c.1192C>G (p.His398Asp)
n.3033C>G
c.1195C>G (p.His399Asp)
c.1123C>G (p.His375Asp)
c.1087C>G (p.His363Asp)
c.1084C>G (p.His362Asp)
c.514C>G (p.His172Asp)
n.1772-606G>C
c.1039C>G (p.His347Asp)
c.547C>G (p.His183Asp)
2g.27366818G=CA1240244414EIF2B4,GTF3C2-AS2c.1132C= (p.His378=)
c.*398C= (n.*398C=)
c.706C=
c.1129C= (p.His377=)
c.1192C= (p.His398=)
n.3033C=
c.1195C= (p.His399=)
c.1123C= (p.His375=)
c.1087C= (p.His363=)
c.1084C= (p.His362=)
c.514C= (p.His172=)
n.1772-606G=
c.1039C= (p.His347=)
c.547C= (p.His183=)
2g.27366818G>TCA346197861EIF2B4,GTF3C2-AS2c.1132C>A (p.His378Asn)
c.*398C>A (n.*398C>A)
c.706C>A
c.1129C>A (p.His377Asn)
c.1192C>A (p.His398Asn)
n.3033C>A
c.1195C>A (p.His399Asn)
c.1123C>A (p.His375Asn)
c.1087C>A (p.His363Asn)
c.1084C>A (p.His362Asn)
c.514C>A (p.His172Asn)
n.1772-606G>T
c.1039C>A (p.His347Asn)
c.547C>A (p.His183Asn)
2g.27366819G>ACA425606567EIF2B4,GTF3C2-AS2c.1131C>T (p.Val377=)
c.*397C>T (n.*397C>T)
c.705C>T
c.1128C>T (p.Val376=)
c.1191C>T (p.Val397=)
n.3032C>T
c.1194C>T (p.Val398=)
c.1122C>T (p.Val374=)
c.1086C>T (p.Val362=)
c.1083C>T (p.Val361=)
c.513C>T (p.Val171=)
n.1772-605G>A
c.1038C>T (p.Val346=)
c.546C>T (p.Val182=)
2g.27366819G>CCA425606568EIF2B4,GTF3C2-AS2c.1131C>G (p.Val377=)
c.*397C>G (n.*397C>G)
c.705C>G
c.1128C>G (p.Val376=)
c.1191C>G (p.Val397=)
n.3032C>G
c.1194C>G (p.Val398=)
c.1122C>G (p.Val374=)
c.1086C>G (p.Val362=)
c.1083C>G (p.Val361=)
c.513C>G (p.Val171=)
n.1772-605G>C
c.1038C>G (p.Val346=)
c.546C>G (p.Val182=)
2g.27366819G>TCA425606569EIF2B4,GTF3C2-AS2c.1131C>A (p.Val377=)
c.*397C>A (n.*397C>A)
c.705C>A
c.1128C>A (p.Val376=)
c.1191C>A (p.Val397=)
n.3032C>A
c.1194C>A (p.Val398=)
c.1122C>A (p.Val374=)
c.1086C>A (p.Val362=)
c.1083C>A (p.Val361=)
c.513C>A (p.Val171=)
n.1772-605G>T
c.1038C>A (p.Val346=)
c.546C>A (p.Val182=)
2g.27366820A>CCA346197862EIF2B4,GTF3C2-AS2c.1130T>G (p.Val377Gly)
c.*396T>G (n.*396T>G)
c.704T>G
c.1127T>G (p.Val376Gly)
c.1190T>G (p.Val397Gly)
n.3031T>G
c.1193T>G (p.Val398Gly)
c.1121T>G (p.Val374Gly)
c.1085T>G (p.Val362Gly)
c.1082T>G (p.Val361Gly)
c.512T>G (p.Val171Gly)
n.1772-604A>C
c.1037T>G (p.Val346Gly)
c.545T>G (p.Val182Gly)
2g.27366820A>GCA346197863EIF2B4,GTF3C2-AS2c.1130T>C (p.Val377Ala)
c.*396T>C (n.*396T>C)
c.704T>C
c.1127T>C (p.Val376Ala)
c.1190T>C (p.Val397Ala)
n.3031T>C
c.1193T>C (p.Val398Ala)
c.1121T>C (p.Val374Ala)
c.1085T>C (p.Val362Ala)
c.1082T>C (p.Val361Ala)
c.512T>C (p.Val171Ala)
n.1772-604A>G
c.1037T>C (p.Val346Ala)
c.545T>C (p.Val182Ala)
2g.27366820A>TCA346197864EIF2B4,GTF3C2-AS2c.1130T>A (p.Val377Asp)
c.*396T>A (n.*396T>A)
c.704T>A
c.1127T>A (p.Val376Asp)
c.1190T>A (p.Val397Asp)
n.3031T>A
c.1193T>A (p.Val398Asp)
c.1121T>A (p.Val374Asp)
c.1085T>A (p.Val362Asp)
c.1082T>A (p.Val361Asp)
c.512T>A (p.Val171Asp)
n.1772-604A>T
c.1037T>A (p.Val346Asp)
c.545T>A (p.Val182Asp)
2g.27366821C>ACA346197865EIF2B4,GTF3C2-AS2c.1129G>T (p.Val377Phe)
c.*395G>T (n.*395G>T)
c.703G>T
c.1126G>T (p.Val376Phe)
c.1189G>T (p.Val397Phe)
n.3030G>T
c.1192G>T (p.Val398Phe)
c.1120G>T (p.Val374Phe)
c.1084G>T (p.Val362Phe)
c.1081G>T (p.Val361Phe)
c.511G>T (p.Val171Phe)
n.1772-603C>A
c.1036G>T (p.Val346Phe)
c.544G>T (p.Val182Phe)
2g.27366821C=CA1240244418EIF2B4,GTF3C2-AS2c.1129G= (p.Val377=)
c.*395G= (n.*395G=)
c.703G=
c.1126G= (p.Val376=)
c.1189G= (p.Val397=)
n.3030G=
c.1192G= (p.Val398=)
c.1120G= (p.Val374=)
c.1084G= (p.Val362=)
c.1081G= (p.Val361=)
c.511G= (p.Val171=)
n.1772-603C=
c.1036G= (p.Val346=)
c.544G= (p.Val182=)
2g.27366821C>GCA1576650EIF2B4,GTF3C2-AS2c.1129G>C (p.Val377Leu)
c.*395G>C (n.*395G>C)
c.703G>C
c.1126G>C (p.Val376Leu)
c.1189G>C (p.Val397Leu)
n.3030G>C
c.1192G>C (p.Val398Leu)
c.1120G>C (p.Val374Leu)
c.1084G>C (p.Val362Leu)
c.1081G>C (p.Val361Leu)
c.511G>C (p.Val171Leu)
n.1772-603C>G
c.1036G>C (p.Val346Leu)
c.544G>C (p.Val182Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27366821C>TCA346197866EIF2B4,GTF3C2-AS2c.1129G>A (p.Val377Ile)
c.*395G>A (n.*395G>A)
c.703G>A
c.1126G>A (p.Val376Ile)
c.1189G>A (p.Val397Ile)
n.3030G>A
c.1192G>A (p.Val398Ile)
c.1120G>A (p.Val374Ile)
c.1084G>A (p.Val362Ile)
c.1081G>A (p.Val361Ile)
c.511G>A (p.Val171Ile)
n.1772-603C>T
c.1036G>A (p.Val346Ile)
c.544G>A (p.Val182Ile)
2g.27366822T>ACA425606578EIF2B4,GTF3C2-AS2c.1128A>T (p.Leu376=)
c.*394A>T (n.*394A>T)
c.702A>T
c.1125A>T (p.Leu375=)
c.1188A>T (p.Leu396=)
n.3029A>T
c.1191A>T (p.Leu397=)
c.1119A>T (p.Leu373=)
c.1083A>T (p.Leu361=)
c.1080A>T (p.Leu360=)
c.510A>T (p.Leu170=)
n.1772-602T>A
c.1035A>T (p.Leu345=)
c.543A>T (p.Leu181=)
2g.27366822T>CCA425606579EIF2B4,GTF3C2-AS2c.1128A>G (p.Leu376=)
c.*394A>G (n.*394A>G)
c.702A>G
c.1125A>G (p.Leu375=)
c.1188A>G (p.Leu396=)
n.3029A>G
c.1191A>G (p.Leu397=)
c.1119A>G (p.Leu373=)
c.1083A>G (p.Leu361=)
c.1080A>G (p.Leu360=)
c.510A>G (p.Leu170=)
n.1772-602T>C
c.1035A>G (p.Leu345=)
c.543A>G (p.Leu181=)
2g.27366822T>GCA425606580EIF2B4,GTF3C2-AS2c.1128A>C (p.Leu376=)
c.*394A>C (n.*394A>C)
c.702A>C
c.1125A>C (p.Leu375=)
c.1188A>C (p.Leu396=)
n.3029A>C
c.1191A>C (p.Leu397=)
c.1119A>C (p.Leu373=)
c.1083A>C (p.Leu361=)
c.1080A>C (p.Leu360=)
c.510A>C (p.Leu170=)
n.1772-602T>G
c.1035A>C (p.Leu345=)
c.543A>C (p.Leu181=)
2g.27366823A>CCA346197867EIF2B4,GTF3C2-AS2c.1127T>G (p.Leu376Arg)
c.*393T>G (n.*393T>G)
c.701T>G
c.1124T>G (p.Leu375Arg)
c.1187T>G (p.Leu396Arg)
n.3028T>G
c.1190T>G (p.Leu397Arg)
c.1118T>G (p.Leu373Arg)
c.1082T>G (p.Leu361Arg)
c.1079T>G (p.Leu360Arg)
c.509T>G (p.Leu170Arg)
n.1772-601A>C
c.1034T>G (p.Leu345Arg)
c.542T>G (p.Leu181Arg)
2g.27366823A>GCA346197868EIF2B4,GTF3C2-AS2c.1127T>C (p.Leu376Pro)
c.*393T>C (n.*393T>C)
c.701T>C
c.1124T>C (p.Leu375Pro)
c.1187T>C (p.Leu396Pro)
n.3028T>C
c.1190T>C (p.Leu397Pro)
c.1118T>C (p.Leu373Pro)
c.1082T>C (p.Leu361Pro)
c.1079T>C (p.Leu360Pro)
c.509T>C (p.Leu170Pro)
n.1772-601A>G
c.1034T>C (p.Leu345Pro)
c.542T>C (p.Leu181Pro)
2g.27366823A>TCA346197869EIF2B4,GTF3C2-AS2c.1127T>A (p.Leu376Gln)
c.*393T>A (n.*393T>A)
c.701T>A
c.1124T>A (p.Leu375Gln)
c.1187T>A (p.Leu396Gln)
n.3028T>A
c.1190T>A (p.Leu397Gln)
c.1118T>A (p.Leu373Gln)
c.1082T>A (p.Leu361Gln)
c.1079T>A (p.Leu360Gln)
c.509T>A (p.Leu170Gln)
n.1772-601A>T
c.1034T>A (p.Leu345Gln)
c.542T>A (p.Leu181Gln)
2g.27366824G>ACA425606581EIF2B4,GTF3C2-AS2c.1126C>T (p.Leu376=)
c.*392C>T (n.*392C>T)
c.700C>T
c.1123C>T (p.Leu375=)
c.1186C>T (p.Leu396=)
n.3027C>T
c.1189C>T (p.Leu397=)
c.1117C>T (p.Leu373=)
c.1081C>T (p.Leu361=)
c.1078C>T (p.Leu360=)
c.508C>T (p.Leu170=)
n.1772-600G>A
c.1033C>T (p.Leu345=)
c.541C>T (p.Leu181=)
 gnomAD v4
2g.27366824G>CCA346197870EIF2B4,GTF3C2-AS2c.1126C>G (p.Leu376Val)
c.*392C>G (n.*392C>G)
c.700C>G
c.1123C>G (p.Leu375Val)
c.1186C>G (p.Leu396Val)
n.3027C>G
c.1189C>G (p.Leu397Val)
c.1117C>G (p.Leu373Val)
c.1081C>G (p.Leu361Val)
c.1078C>G (p.Leu360Val)
c.508C>G (p.Leu170Val)
n.1772-600G>C
c.1033C>G (p.Leu345Val)
c.541C>G (p.Leu181Val)
 dbSNP gnomAD v4
2g.27366824G=CA1240244421EIF2B4,GTF3C2-AS2c.1126C= (p.Leu376=)
c.*392C= (n.*392C=)
c.700C=
c.1123C= (p.Leu375=)
c.1186C= (p.Leu396=)
n.3027C=
c.1189C= (p.Leu397=)
c.1117C= (p.Leu373=)
c.1081C= (p.Leu361=)
c.1078C= (p.Leu360=)
c.508C= (p.Leu170=)
n.1772-600G=
c.1033C= (p.Leu345=)
c.541C= (p.Leu181=)
2g.27366824G>TCA346197871EIF2B4,GTF3C2-AS2c.1126C>A (p.Leu376Ile)
c.*392C>A (n.*392C>A)
c.700C>A
c.1123C>A (p.Leu375Ile)
c.1186C>A (p.Leu396Ile)
n.3027C>A
c.1189C>A (p.Leu397Ile)
c.1117C>A (p.Leu373Ile)
c.1081C>A (p.Leu361Ile)
c.1078C>A (p.Leu360Ile)
c.508C>A (p.Leu170Ile)
n.1772-600G>T
c.1033C>A (p.Leu345Ile)
c.541C>A (p.Leu181Ile)
2g.27366825A=CA1240244423EIF2B4,GTF3C2-AS2c.1125T= (p.Ser375=)
c.*391T= (n.*391T=)
c.699T=
c.1122T= (p.Ser374=)
c.1185T= (p.Ser395=)
n.3026T=
c.1188T= (p.Ser396=)
c.1116T= (p.Ser372=)
c.1080T= (p.Ser360=)
c.1077T= (p.Ser359=)
c.507T= (p.Ser169=)
n.1772-599A=
c.1032T= (p.Ser344=)
c.540T= (p.Ser180=)
2g.27366825A>CCA425606583EIF2B4,GTF3C2-AS2c.1125T>G (p.Ser375=)
c.*391T>G (n.*391T>G)
c.699T>G
c.1122T>G (p.Ser374=)
c.1185T>G (p.Ser395=)
n.3026T>G
c.1188T>G (p.Ser396=)
c.1116T>G (p.Ser372=)
c.1080T>G (p.Ser360=)
c.1077T>G (p.Ser359=)
c.507T>G (p.Ser169=)
n.1772-599A>C
c.1032T>G (p.Ser344=)
c.540T>G (p.Ser180=)
2g.27366825A>GCA425606584EIF2B4,GTF3C2-AS2c.1125T>C (p.Ser375=)
c.*391T>C (n.*391T>C)
c.699T>C
c.1122T>C (p.Ser374=)
c.1185T>C (p.Ser395=)
n.3026T>C
c.1188T>C (p.Ser396=)
c.1116T>C (p.Ser372=)
c.1080T>C (p.Ser360=)
c.1077T>C (p.Ser359=)
c.507T>C (p.Ser169=)
n.1772-599A>G
c.1032T>C (p.Ser344=)
c.540T>C (p.Ser180=)
 dbSNP gnomAD v2 gnomAD v4
2g.27366825A>TCA425606586EIF2B4,GTF3C2-AS2c.1125T>A (p.Ser375=)
c.*391T>A (n.*391T>A)
c.699T>A
c.1122T>A (p.Ser374=)
c.1185T>A (p.Ser395=)
n.3026T>A
c.1188T>A (p.Ser396=)
c.1116T>A (p.Ser372=)
c.1080T>A (p.Ser360=)
c.1077T>A (p.Ser359=)
c.507T>A (p.Ser169=)
n.1772-599A>T
c.1032T>A (p.Ser344=)
c.540T>A (p.Ser180=)
2g.27366826G>ACA1576651EIF2B4,GTF3C2-AS2c.1124C>T (p.Ser375Phe)
c.*390C>T (n.*390C>T)
c.698C>T
c.1121C>T (p.Ser374Phe)
c.1184C>T (p.Ser395Phe)
n.3025C>T
c.1187C>T (p.Ser396Phe)
c.1115C>T (p.Ser372Phe)
c.1079C>T (p.Ser360Phe)
c.1076C>T (p.Ser359Phe)
c.506C>T (p.Ser169Phe)
n.1772-598G>A
c.1031C>T (p.Ser344Phe)
c.539C>T (p.Ser180Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27366826G>CCA346197873EIF2B4,GTF3C2-AS2c.1124C>G (p.Ser375Cys)
c.*390C>G (n.*390C>G)
c.698C>G
c.1121C>G (p.Ser374Cys)
c.1184C>G (p.Ser395Cys)
n.3025C>G
c.1187C>G (p.Ser396Cys)
c.1115C>G (p.Ser372Cys)
c.1079C>G (p.Ser360Cys)
c.1076C>G (p.Ser359Cys)
c.506C>G (p.Ser169Cys)
n.1772-598G>C
c.1031C>G (p.Ser344Cys)
c.539C>G (p.Ser180Cys)
 gnomAD v4
2g.27366826G=CA1240244429EIF2B4,GTF3C2-AS2c.1124C= (p.Ser375=)
c.*390C= (n.*390C=)
c.698C=
c.1121C= (p.Ser374=)
c.1184C= (p.Ser395=)
n.3025C=
c.1187C= (p.Ser396=)
c.1115C= (p.Ser372=)
c.1079C= (p.Ser360=)
c.1076C= (p.Ser359=)
c.506C= (p.Ser169=)
n.1772-598G=
c.1031C= (p.Ser344=)
c.539C= (p.Ser180=)
2g.27366826G>TCA346197872EIF2B4,GTF3C2-AS2c.1124C>A (p.Ser375Tyr)
c.*390C>A (n.*390C>A)
c.698C>A
c.1121C>A (p.Ser374Tyr)
c.1184C>A (p.Ser395Tyr)
n.3025C>A
c.1187C>A (p.Ser396Tyr)
c.1115C>A (p.Ser372Tyr)
c.1079C>A (p.Ser360Tyr)
c.1076C>A (p.Ser359Tyr)
c.506C>A (p.Ser169Tyr)
n.1772-598G>T
c.1031C>A (p.Ser344Tyr)
c.539C>A (p.Ser180Tyr)
2g.27366827A>CCA346197874EIF2B4,GTF3C2-AS2c.1123T>G (p.Ser375Ala)
c.*389T>G (n.*389T>G)
c.697T>G
c.1120T>G (p.Ser374Ala)
c.1183T>G (p.Ser395Ala)
n.3024T>G
c.1186T>G (p.Ser396Ala)
c.1114T>G (p.Ser372Ala)
c.1078T>G (p.Ser360Ala)
c.1075T>G (p.Ser359Ala)
c.505T>G (p.Ser169Ala)
n.1772-597A>C
c.1030T>G (p.Ser344Ala)
c.538T>G (p.Ser180Ala)
 gnomAD v4
2g.27366827A>GCA346197875EIF2B4,GTF3C2-AS2c.1123T>C (p.Ser375Pro)
c.*389T>C (n.*389T>C)
c.697T>C
c.1120T>C (p.Ser374Pro)
c.1183T>C (p.Ser395Pro)
n.3024T>C
c.1186T>C (p.Ser396Pro)
c.1114T>C (p.Ser372Pro)
c.1078T>C (p.Ser360Pro)
c.1075T>C (p.Ser359Pro)
c.505T>C (p.Ser169Pro)
n.1772-597A>G
c.1030T>C (p.Ser344Pro)
c.538T>C (p.Ser180Pro)
2g.27366827A>TCA346197876EIF2B4,GTF3C2-AS2c.1123T>A (p.Ser375Thr)
c.*389T>A (n.*389T>A)
c.697T>A
c.1120T>A (p.Ser374Thr)
c.1183T>A (p.Ser395Thr)
n.3024T>A
c.1186T>A (p.Ser396Thr)
c.1114T>A (p.Ser372Thr)
c.1078T>A (p.Ser360Thr)
c.1075T>A (p.Ser359Thr)
c.505T>A (p.Ser169Thr)
n.1772-597A>T
c.1030T>A (p.Ser344Thr)
c.538T>A (p.Ser180Thr)
2g.27366828A>CCA425606592EIF2B4,GTF3C2-AS2c.1122T>G (p.Arg374=)
c.*388T>G (n.*388T>G)
c.696T>G
c.1119T>G (p.Arg373=)
c.1182T>G (p.Arg394=)
n.3023T>G
c.1185T>G (p.Arg395=)
c.1113T>G (p.Arg371=)
c.1077T>G (p.Arg359=)
c.1074T>G (p.Arg358=)
c.504T>G (p.Arg168=)
n.1772-596A>C
c.1029T>G (p.Arg343=)
c.537T>G (p.Arg179=)
2g.27366828A>GCA425606593EIF2B4,GTF3C2-AS2c.1122T>C (p.Arg374=)
c.*388T>C (n.*388T>C)
c.696T>C
c.1119T>C (p.Arg373=)
c.1182T>C (p.Arg394=)
n.3023T>C
c.1185T>C (p.Arg395=)
c.1113T>C (p.Arg371=)
c.1077T>C (p.Arg359=)
c.1074T>C (p.Arg358=)
c.504T>C (p.Arg168=)
n.1772-596A>G
c.1029T>C (p.Arg343=)
c.537T>C (p.Arg179=)
2g.27366828A>TCA425606595EIF2B4,GTF3C2-AS2c.1122T>A (p.Arg374=)
c.*388T>A (n.*388T>A)
c.696T>A
c.1119T>A (p.Arg373=)
c.1182T>A (p.Arg394=)
n.3023T>A
c.1185T>A (p.Arg395=)
c.1113T>A (p.Arg371=)
c.1077T>A (p.Arg359=)
c.1074T>A (p.Arg358=)
c.504T>A (p.Arg168=)
n.1772-596A>T
c.1029T>A (p.Arg343=)
c.537T>A (p.Arg179=)
2g.27366829C>ACA346197877EIF2B4,GTF3C2-AS2c.1121G>T (p.Arg374Leu)
c.*387G>T (n.*387G>T)
c.695G>T
c.1118G>T (p.Arg373Leu)
c.1181G>T (p.Arg394Leu)
n.3022G>T
c.1184G>T (p.Arg395Leu)
c.1112G>T (p.Arg371Leu)
c.1076G>T (p.Arg359Leu)
c.1073G>T (p.Arg358Leu)
c.503G>T (p.Arg168Leu)
n.1772-595C>A
c.1028G>T (p.Arg343Leu)
c.536G>T (p.Arg179Leu)
2g.27366829C=CA1240244433EIF2B4,GTF3C2-AS2c.1121G= (p.Arg374=)
c.*387G= (n.*387G=)
c.695G=
c.1118G= (p.Arg373=)
c.1181G= (p.Arg394=)
n.3022G=
c.1184G= (p.Arg395=)
c.1112G= (p.Arg371=)
c.1076G= (p.Arg359=)
c.1073G= (p.Arg358=)
c.503G= (p.Arg168=)
n.1772-595C=
c.1028G= (p.Arg343=)
c.536G= (p.Arg179=)
2g.27366829C>GCA346197878EIF2B4,GTF3C2-AS2c.1121G>C (p.Arg374Pro)
c.*387G>C (n.*387G>C)
c.695G>C
c.1118G>C (p.Arg373Pro)
c.1181G>C (p.Arg394Pro)
n.3022G>C
c.1184G>C (p.Arg395Pro)
c.1112G>C (p.Arg371Pro)
c.1076G>C (p.Arg359Pro)
c.1073G>C (p.Arg358Pro)
c.503G>C (p.Arg168Pro)
n.1772-595C>G
c.1028G>C (p.Arg343Pro)
c.536G>C (p.Arg179Pro)
2g.27366829C>TCA44511425EIF2B4,GTF3C2-AS2c.1121G>A (p.Arg374His)
c.*387G>A (n.*387G>A)
c.695G>A
c.1118G>A (p.Arg373His)
c.1181G>A (p.Arg394His)
n.3022G>A
c.1184G>A (p.Arg395His)
c.1112G>A (p.Arg371His)
c.1076G>A (p.Arg359His)
c.1073G>A (p.Arg358His)
c.503G>A (p.Arg168His)
n.1772-595C>T
c.1028G>A (p.Arg343His)
c.536G>A (p.Arg179His)
 dbSNP gnomAD v3 gnomAD v4
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=)

Number of alleles fetched