Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27366723_27366746dupCA1576633EIF2B4,GTF3C2-AS2c.1191+20_1191+43dup (n.1191+20_1191+43dup)
c.*457+20_*457+43dup (n.*457+20_*457+43dup)
c.1188+20_1188+43dup (n.1188+20_1188+43dup)
c.1251+20_1251+43dup (n.1251+20_1251+43dup)
n.3112_3135dup
c.1254+20_1254+43dup (n.1254+20_1254+43dup)
c.1182+20_1182+43dup (n.1182+20_1182+43dup)
c.1146+20_1146+43dup (n.1146+20_1146+43dup)
c.1143+20_1143+43dup (n.1143+20_1143+43dup)
c.573+20_573+43dup (n.573+20_573+43dup)
n.1772-701_1772-678dup
c.1098+20_1098+43dup (n.1098+20_1098+43dup)
c.606+20_606+43dup (n.606+20_606+43dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27366739T>CCA2658337461EIF2B4,GTF3C2-AS2c.1191+20A>G (n.1191+20A>G)
c.*457+20A>G (n.*457+20A>G)
c.1188+20A>G (n.1188+20A>G)
c.1251+20A>G (n.1251+20A>G)
n.3112A>G
c.1254+20A>G (n.1254+20A>G)
c.1182+20A>G (n.1182+20A>G)
c.1146+20A>G (n.1146+20A>G)
c.1143+20A>G (n.1143+20A>G)
c.573+20A>G (n.573+20A>G)
n.1772-685T>C
c.1098+20A>G (n.1098+20A>G)
c.606+20A>G (n.606+20A>G)
 ClinVar gnomAD v4
2g.27366739T>GCA1576636EIF2B4,GTF3C2-AS2c.1191+20A>C (n.1191+20A>C)
c.*457+20A>C (n.*457+20A>C)
c.1188+20A>C (n.1188+20A>C)
c.1251+20A>C (n.1251+20A>C)
n.3112A>C
c.1254+20A>C (n.1254+20A>C)
c.1182+20A>C (n.1182+20A>C)
c.1146+20A>C (n.1146+20A>C)
c.1143+20A>C (n.1143+20A>C)
c.573+20A>C (n.573+20A>C)
n.1772-685T>G
c.1098+20A>C (n.1098+20A>C)
c.606+20A>C (n.606+20A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.27366739T=CA1240244298EIF2B4,GTF3C2-AS2c.1191+20A= (n.1191+20A=)
c.*457+20A= (n.*457+20A=)
c.1188+20A= (n.1188+20A=)
c.1251+20A= (n.1251+20A=)
n.3112A=
c.1254+20A= (n.1254+20A=)
c.1182+20A= (n.1182+20A=)
c.1146+20A= (n.1146+20A=)
c.1143+20A= (n.1143+20A=)
c.573+20A= (n.573+20A=)
n.1772-685T=
c.1098+20A= (n.1098+20A=)
c.606+20A= (n.606+20A=)
2g.27366739_27366740delinsTCCA1240244299EIF2B4,GTF3C2-AS2c.1191+19_1191+20delinsGA (n.1191+19_1191+20delinsGA)
c.*457+19_*457+20delinsGA (n.*457+19_*457+20delinsGA)
c.1188+19_1188+20delinsGA (n.1188+19_1188+20delinsGA)
c.1251+19_1251+20delinsGA (n.1251+19_1251+20delinsGA)
n.3111_3112delinsGA
c.1254+19_1254+20delinsGA (n.1254+19_1254+20delinsGA)
c.1182+19_1182+20delinsGA (n.1182+19_1182+20delinsGA)
c.1146+19_1146+20delinsGA (n.1146+19_1146+20delinsGA)
c.1143+19_1143+20delinsGA (n.1143+19_1143+20delinsGA)
c.573+19_573+20delinsGA (n.573+19_573+20delinsGA)
n.1772-685_1772-684delinsTC
c.1098+19_1098+20delinsGA (n.1098+19_1098+20delinsGA)
c.606+19_606+20delinsGA (n.606+19_606+20delinsGA)
2g.27366740C=CA1240244301EIF2B4,GTF3C2-AS2c.1191+19G= (n.1191+19G=)
c.*457+19G= (n.*457+19G=)
c.1188+19G= (n.1188+19G=)
c.1251+19G= (n.1251+19G=)
n.3111G=
c.1254+19G= (n.1254+19G=)
c.1182+19G= (n.1182+19G=)
c.1146+19G= (n.1146+19G=)
c.1143+19G= (n.1143+19G=)
c.573+19G= (n.573+19G=)
n.1772-684C=
c.1098+19G= (n.1098+19G=)
c.606+19G= (n.606+19G=)
2g.27366740C>GCA2576980949EIF2B4,GTF3C2-AS2c.1191+19G>C (n.1191+19G>C)
c.*457+19G>C (n.*457+19G>C)
c.1188+19G>C (n.1188+19G>C)
c.1251+19G>C (n.1251+19G>C)
n.3111G>C
c.1254+19G>C (n.1254+19G>C)
c.1182+19G>C (n.1182+19G>C)
c.1146+19G>C (n.1146+19G>C)
c.1143+19G>C (n.1143+19G>C)
c.573+19G>C (n.573+19G>C)
n.1772-684C>G
c.1098+19G>C (n.1098+19G>C)
c.606+19G>C (n.606+19G>C)
2g.27366740C>TCA44511244EIF2B4,GTF3C2-AS2c.1191+19G>A (n.1191+19G>A)
c.*457+19G>A (n.*457+19G>A)
c.1188+19G>A (n.1188+19G>A)
c.1251+19G>A (n.1251+19G>A)
n.3111G>A
c.1254+19G>A (n.1254+19G>A)
c.1182+19G>A (n.1182+19G>A)
c.1146+19G>A (n.1146+19G>A)
c.1143+19G>A (n.1143+19G>A)
c.573+19G>A (n.573+19G>A)
n.1772-684C>T
c.1098+19G>A (n.1098+19G>A)
c.606+19G>A (n.606+19G>A)
 dbSNP gnomAD v4
2g.27366741delCA1028682877EIF2B4,GTF3C2-AS2c.1191+19del (n.1191+19del)
c.*457+19del (n.*457+19del)
c.1188+19del (n.1188+19del)
c.1251+19del (n.1251+19del)
n.3111del
c.1254+19del (n.1254+19del)
c.1182+19del (n.1182+19del)
c.1146+19del (n.1146+19del)
c.1143+19del (n.1143+19del)
c.573+19del (n.573+19del)
n.1772-683del
c.1098+19del (n.1098+19del)
c.606+19del (n.606+19del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.27366741C>TCA2749265048EIF2B4,GTF3C2-AS2c.1191+18G>A (n.1191+18G>A)
c.*457+18G>A (n.*457+18G>A)
c.1188+18G>A (n.1188+18G>A)
c.1251+18G>A (n.1251+18G>A)
n.3110G>A
c.1254+18G>A (n.1254+18G>A)
c.1182+18G>A (n.1182+18G>A)
c.1146+18G>A (n.1146+18G>A)
c.1143+18G>A (n.1143+18G>A)
c.573+18G>A (n.573+18G>A)
n.1772-683C>T
c.1098+18G>A (n.1098+18G>A)
c.606+18G>A (n.606+18G>A)
2g.27366742T>ACA44511258EIF2B4,GTF3C2-AS2c.1191+17A>T (n.1191+17A>T)
c.*457+17A>T (n.*457+17A>T)
c.1188+17A>T (n.1188+17A>T)
c.1251+17A>T (n.1251+17A>T)
n.3109A>T
c.1254+17A>T (n.1254+17A>T)
c.1182+17A>T (n.1182+17A>T)
c.1146+17A>T (n.1146+17A>T)
c.1143+17A>T (n.1143+17A>T)
c.573+17A>T (n.573+17A>T)
n.1772-682T>A
c.1098+17A>T (n.1098+17A>T)
c.606+17A>T (n.606+17A>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27366742T=CA1240244305EIF2B4,GTF3C2-AS2c.1191+17A= (n.1191+17A=)
c.*457+17A= (n.*457+17A=)
c.1188+17A= (n.1188+17A=)
c.1251+17A= (n.1251+17A=)
n.3109A=
c.1254+17A= (n.1254+17A=)
c.1182+17A= (n.1182+17A=)
c.1146+17A= (n.1146+17A=)
c.1143+17A= (n.1143+17A=)
c.573+17A= (n.573+17A=)
n.1772-682T=
c.1098+17A= (n.1098+17A=)
c.606+17A= (n.606+17A=)
2g.27366745delCA2749265049EIF2B4,GTF3C2-AS2c.1191+17del (n.1191+17del)
c.*457+17del (n.*457+17del)
c.1188+17del (n.1188+17del)
c.1251+17del (n.1251+17del)
n.3109del
c.1254+17del (n.1254+17del)
c.1182+17del (n.1182+17del)
c.1146+17del (n.1146+17del)
c.1143+17del (n.1143+17del)
c.573+17del (n.573+17del)
n.1772-679del
c.1098+17del (n.1098+17del)
c.606+17del (n.606+17del)
2g.27366746C=CA1240244310EIF2B4,GTF3C2-AS2c.1191+13G= (n.1191+13G=)
c.*457+13G= (n.*457+13G=)
c.1188+13G= (n.1188+13G=)
c.1251+13G= (n.1251+13G=)
n.3105G=
c.1254+13G= (n.1254+13G=)
c.1182+13G= (n.1182+13G=)
c.1146+13G= (n.1146+13G=)
c.1143+13G= (n.1143+13G=)
c.573+13G= (n.573+13G=)
n.1772-678C=
c.1098+13G= (n.1098+13G=)
c.606+13G= (n.606+13G=)
2g.27366746C>TCA1576637EIF2B4,GTF3C2-AS2c.1191+13G>A (n.1191+13G>A)
c.*457+13G>A (n.*457+13G>A)
c.1188+13G>A (n.1188+13G>A)
c.1251+13G>A (n.1251+13G>A)
n.3105G>A
c.1254+13G>A (n.1254+13G>A)
c.1182+13G>A (n.1182+13G>A)
c.1146+13G>A (n.1146+13G>A)
c.1143+13G>A (n.1143+13G>A)
c.573+13G>A (n.573+13G>A)
n.1772-678C>T
c.1098+13G>A (n.1098+13G>A)
c.606+13G>A (n.606+13G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27366747C>ACA2658337463EIF2B4,GTF3C2-AS2c.1191+12G>T (n.1191+12G>T)
c.*457+12G>T (n.*457+12G>T)
c.1188+12G>T (n.1188+12G>T)
c.1251+12G>T (n.1251+12G>T)
n.3104G>T
c.1254+12G>T (n.1254+12G>T)
c.1182+12G>T (n.1182+12G>T)
c.1146+12G>T (n.1146+12G>T)
c.1143+12G>T (n.1143+12G>T)
c.573+12G>T (n.573+12G>T)
n.1772-677C>A
c.1098+12G>T (n.1098+12G>T)
c.606+12G>T (n.606+12G>T)
 gnomAD v4
2g.27366747C=CA1240244315EIF2B4,GTF3C2-AS2c.1191+12G= (n.1191+12G=)
c.*457+12G= (n.*457+12G=)
c.1188+12G= (n.1188+12G=)
c.1251+12G= (n.1251+12G=)
n.3104G=
c.1254+12G= (n.1254+12G=)
c.1182+12G= (n.1182+12G=)
c.1146+12G= (n.1146+12G=)
c.1143+12G= (n.1143+12G=)
c.573+12G= (n.573+12G=)
n.1772-677C=
c.1098+12G= (n.1098+12G=)
c.606+12G= (n.606+12G=)
2g.27366747C>GCA2658337462EIF2B4,GTF3C2-AS2c.1191+12G>C (n.1191+12G>C)
c.*457+12G>C (n.*457+12G>C)
c.1188+12G>C (n.1188+12G>C)
c.1251+12G>C (n.1251+12G>C)
n.3104G>C
c.1254+12G>C (n.1254+12G>C)
c.1182+12G>C (n.1182+12G>C)
c.1146+12G>C (n.1146+12G>C)
c.1143+12G>C (n.1143+12G>C)
c.573+12G>C (n.573+12G>C)
n.1772-677C>G
c.1098+12G>C (n.1098+12G>C)
c.606+12G>C (n.606+12G>C)
 gnomAD v4
2g.27366747C>TCA1576638EIF2B4,GTF3C2-AS2c.1191+12G>A (n.1191+12G>A)
c.*457+12G>A (n.*457+12G>A)
c.1188+12G>A (n.1188+12G>A)
c.1251+12G>A (n.1251+12G>A)
n.3104G>A
c.1254+12G>A (n.1254+12G>A)
c.1182+12G>A (n.1182+12G>A)
c.1146+12G>A (n.1146+12G>A)
c.1143+12G>A (n.1143+12G>A)
c.573+12G>A (n.573+12G>A)
n.1772-677C>T
c.1098+12G>A (n.1098+12G>A)
c.606+12G>A (n.606+12G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27366749C>TCA2658337464EIF2B4,GTF3C2-AS2c.1191+10G>A (n.1191+10G>A)
c.*457+10G>A (n.*457+10G>A)
c.1188+10G>A (n.1188+10G>A)
c.1251+10G>A (n.1251+10G>A)
n.3102G>A
c.1254+10G>A (n.1254+10G>A)
c.1182+10G>A (n.1182+10G>A)
c.1146+10G>A (n.1146+10G>A)
c.1143+10G>A (n.1143+10G>A)
c.573+10G>A (n.573+10G>A)
n.1772-675C>T
c.1098+10G>A (n.1098+10G>A)
c.606+10G>A (n.606+10G>A)
 gnomAD v4
2g.27366750delCA2658337465EIF2B4,GTF3C2-AS2c.1191+9del (n.1191+9del)
c.*457+9del (n.*457+9del)
c.1188+9del (n.1188+9del)
c.1251+9del (n.1251+9del)
n.3101del
c.1254+9del (n.1254+9del)
c.1182+9del (n.1182+9del)
c.1146+9del (n.1146+9del)
c.1143+9del (n.1143+9del)
c.573+9del (n.573+9del)
n.1772-674del
c.1098+9del (n.1098+9del)
c.606+9del (n.606+9del)
 gnomAD v4
2g.27366750T>CCA1240244320EIF2B4,GTF3C2-AS2c.1191+9A>G (n.1191+9A>G)
c.*457+9A>G (n.*457+9A>G)
c.1188+9A>G (n.1188+9A>G)
c.1251+9A>G (n.1251+9A>G)
n.3101A>G
c.1254+9A>G (n.1254+9A>G)
c.1182+9A>G (n.1182+9A>G)
c.1146+9A>G (n.1146+9A>G)
c.1143+9A>G (n.1143+9A>G)
c.573+9A>G (n.573+9A>G)
n.1772-674T>C
c.1098+9A>G (n.1098+9A>G)
c.606+9A>G (n.606+9A>G)
 dbSNP gnomAD v4
2g.27366750T=CA1240244319EIF2B4,GTF3C2-AS2c.1191+9A= (n.1191+9A=)
c.*457+9A= (n.*457+9A=)
c.1188+9A= (n.1188+9A=)
c.1251+9A= (n.1251+9A=)
n.3101A=
c.1254+9A= (n.1254+9A=)
c.1182+9A= (n.1182+9A=)
c.1146+9A= (n.1146+9A=)
c.1143+9A= (n.1143+9A=)
c.573+9A= (n.573+9A=)
n.1772-674T=
c.1098+9A= (n.1098+9A=)
c.606+9A= (n.606+9A=)
2g.27366751G>ACA2658337466EIF2B4,GTF3C2-AS2c.1191+8C>T (n.1191+8C>T)
c.*457+8C>T (n.*457+8C>T)
c.1188+8C>T (n.1188+8C>T)
c.1251+8C>T (n.1251+8C>T)
n.3100C>T
c.1254+8C>T (n.1254+8C>T)
c.1182+8C>T (n.1182+8C>T)
c.1146+8C>T (n.1146+8C>T)
c.1143+8C>T (n.1143+8C>T)
c.573+8C>T (n.573+8C>T)
n.1772-673G>A
c.1098+8C>T (n.1098+8C>T)
c.606+8C>T (n.606+8C>T)
 gnomAD v4
2g.27366751G>CCA2594644446EIF2B4,GTF3C2-AS2c.1191+8C>G (n.1191+8C>G)
c.*457+8C>G (n.*457+8C>G)
c.1188+8C>G (n.1188+8C>G)
c.1251+8C>G (n.1251+8C>G)
n.3100C>G
c.1254+8C>G (n.1254+8C>G)
c.1182+8C>G (n.1182+8C>G)
c.1146+8C>G (n.1146+8C>G)
c.1143+8C>G (n.1143+8C>G)
c.573+8C>G (n.573+8C>G)
n.1772-673G>C
c.1098+8C>G (n.1098+8C>G)
c.606+8C>G (n.606+8C>G)
 gnomAD v3 gnomAD v4
2g.27366753A=CA1240244321EIF2B4,GTF3C2-AS2c.1191+6T= (n.1191+6T=)
c.*457+6T= (n.*457+6T=)
c.1188+6T= (n.1188+6T=)
c.1251+6T= (n.1251+6T=)
n.3098T=
c.1254+6T= (n.1254+6T=)
c.1182+6T= (n.1182+6T=)
c.1146+6T= (n.1146+6T=)
c.1143+6T= (n.1143+6T=)
c.573+6T= (n.573+6T=)
n.1772-671A=
c.1098+6T= (n.1098+6T=)
c.606+6T= (n.606+6T=)
2g.27366753A>GCA1576639EIF2B4,GTF3C2-AS2c.1191+6T>C (n.1191+6T>C)
c.*457+6T>C (n.*457+6T>C)
c.1188+6T>C (n.1188+6T>C)
c.1251+6T>C (n.1251+6T>C)
n.3098T>C
c.1254+6T>C (n.1254+6T>C)
c.1182+6T>C (n.1182+6T>C)
c.1146+6T>C (n.1146+6T>C)
c.1143+6T>C (n.1143+6T>C)
c.573+6T>C (n.573+6T>C)
n.1772-671A>G
c.1098+6T>C (n.1098+6T>C)
c.606+6T>C (n.606+6T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27366754C=CA1240244323EIF2B4,GTF3C2-AS2c.1191+5G= (n.1191+5G=)
c.*457+5G= (n.*457+5G=)
c.1188+5G= (n.1188+5G=)
c.1251+5G= (n.1251+5G=)
n.3097G=
c.1254+5G= (n.1254+5G=)
c.1182+5G= (n.1182+5G=)
c.1146+5G= (n.1146+5G=)
c.1143+5G= (n.1143+5G=)
c.573+5G= (n.573+5G=)
n.1772-670C=
c.1098+5G= (n.1098+5G=)
c.606+5G= (n.606+5G=)
2g.27366754C>TCA531448074EIF2B4,GTF3C2-AS2c.1191+5G>A (n.1191+5G>A)
c.*457+5G>A (n.*457+5G>A)
c.1188+5G>A (n.1188+5G>A)
c.1251+5G>A (n.1251+5G>A)
n.3097G>A
c.1254+5G>A (n.1254+5G>A)
c.1182+5G>A (n.1182+5G>A)
c.1146+5G>A (n.1146+5G>A)
c.1143+5G>A (n.1143+5G>A)
c.573+5G>A (n.573+5G>A)
n.1772-670C>T
c.1098+5G>A (n.1098+5G>A)
c.606+5G>A (n.606+5G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.27366756T>CCA1576640EIF2B4,GTF3C2-AS2c.1191+3A>G (n.1191+3A>G)
c.*457+3A>G (n.*457+3A>G)
c.1188+3A>G (n.1188+3A>G)
c.1251+3A>G (n.1251+3A>G)
n.3095A>G
c.1254+3A>G (n.1254+3A>G)
c.1182+3A>G (n.1182+3A>G)
c.1146+3A>G (n.1146+3A>G)
c.1143+3A>G (n.1143+3A>G)
c.573+3A>G (n.573+3A>G)
n.1772-668T>C
c.1098+3A>G (n.1098+3A>G)
c.606+3A>G (n.606+3A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27366756T=CA1240244326EIF2B4,GTF3C2-AS2c.1191+3A= (n.1191+3A=)
c.*457+3A= (n.*457+3A=)
c.1188+3A= (n.1188+3A=)
c.1251+3A= (n.1251+3A=)
n.3095A=
c.1254+3A= (n.1254+3A=)
c.1182+3A= (n.1182+3A=)
c.1146+3A= (n.1146+3A=)
c.1143+3A= (n.1143+3A=)
c.573+3A= (n.573+3A=)
n.1772-668T=
c.1098+3A= (n.1098+3A=)
c.606+3A= (n.606+3A=)
2g.27366757A=CA1240244329EIF2B4,GTF3C2-AS2c.1191+2T= (n.1191+2T=)
c.*457+2T= (n.*457+2T=)
c.1188+2T= (n.1188+2T=)
c.1251+2T= (n.1251+2T=)
n.3094T=
c.1254+2T= (n.1254+2T=)
c.1182+2T= (n.1182+2T=)
c.1146+2T= (n.1146+2T=)
c.1143+2T= (n.1143+2T=)
c.573+2T= (n.573+2T=)
n.1772-667A=
c.1098+2T= (n.1098+2T=)
c.606+2T= (n.606+2T=)
2g.27366757A>CCA346197445EIF2B4,GTF3C2-AS2c.1191+2T>G (n.1191+2T>G)
c.*457+2T>G (n.*457+2T>G)
c.1188+2T>G (n.1188+2T>G)
c.1251+2T>G (n.1251+2T>G)
n.3094T>G
c.1254+2T>G (n.1254+2T>G)
c.1182+2T>G (n.1182+2T>G)
c.1146+2T>G (n.1146+2T>G)
c.1143+2T>G (n.1143+2T>G)
c.573+2T>G (n.573+2T>G)
n.1772-667A>C
c.1098+2T>G (n.1098+2T>G)
c.606+2T>G (n.606+2T>G)
2g.27366757A>GCA1576641EIF2B4,GTF3C2-AS2c.1191+2T>C (n.1191+2T>C)
c.*457+2T>C (n.*457+2T>C)
c.1188+2T>C (n.1188+2T>C)
c.1251+2T>C (n.1251+2T>C)
n.3094T>C
c.1254+2T>C (n.1254+2T>C)
c.1182+2T>C (n.1182+2T>C)
c.1146+2T>C (n.1146+2T>C)
c.1143+2T>C (n.1143+2T>C)
c.573+2T>C (n.573+2T>C)
n.1772-667A>G
c.1098+2T>C (n.1098+2T>C)
c.606+2T>C (n.606+2T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.27366757A>TCA346197446EIF2B4,GTF3C2-AS2c.1191+2T>A (n.1191+2T>A)
c.*457+2T>A (n.*457+2T>A)
c.1188+2T>A (n.1188+2T>A)
c.1251+2T>A (n.1251+2T>A)
n.3094T>A
c.1254+2T>A (n.1254+2T>A)
c.1182+2T>A (n.1182+2T>A)
c.1146+2T>A (n.1146+2T>A)
c.1143+2T>A (n.1143+2T>A)
c.573+2T>A (n.573+2T>A)
n.1772-667A>T
c.1098+2T>A (n.1098+2T>A)
c.606+2T>A (n.606+2T>A)
2g.27366758C>ACA346197447EIF2B4,GTF3C2-AS2c.1191+1G>T (n.1191+1G>T)
c.*457+1G>T (n.*457+1G>T)
c.1188+1G>T (n.1188+1G>T)
c.1251+1G>T (n.1251+1G>T)
n.3093G>T
c.1254+1G>T (n.1254+1G>T)
c.1182+1G>T (n.1182+1G>T)
c.1146+1G>T (n.1146+1G>T)
c.1143+1G>T (n.1143+1G>T)
c.573+1G>T (n.573+1G>T)
n.1772-666C>A
c.1098+1G>T (n.1098+1G>T)
c.606+1G>T (n.606+1G>T)
2g.27366758C=CA1240244332EIF2B4,GTF3C2-AS2c.1191+1G= (n.1191+1G=)
c.*457+1G= (n.*457+1G=)
c.1188+1G= (n.1188+1G=)
c.1251+1G= (n.1251+1G=)
n.3093G=
c.1254+1G= (n.1254+1G=)
c.1182+1G= (n.1182+1G=)
c.1146+1G= (n.1146+1G=)
c.1143+1G= (n.1143+1G=)
c.573+1G= (n.573+1G=)
n.1772-666C=
c.1098+1G= (n.1098+1G=)
c.606+1G= (n.606+1G=)
2g.27366758C>GCA346197448EIF2B4,GTF3C2-AS2c.1191+1G>C (n.1191+1G>C)
c.*457+1G>C (n.*457+1G>C)
c.1188+1G>C (n.1188+1G>C)
c.1251+1G>C (n.1251+1G>C)
n.3093G>C
c.1254+1G>C (n.1254+1G>C)
c.1182+1G>C (n.1182+1G>C)
c.1146+1G>C (n.1146+1G>C)
c.1143+1G>C (n.1143+1G>C)
c.573+1G>C (n.573+1G>C)
n.1772-666C>G
c.1098+1G>C (n.1098+1G>C)
c.606+1G>C (n.606+1G>C)
2g.27366758C>TCA340163EIF2B4,GTF3C2-AS2c.1191+1G>A (n.1191+1G>A)
c.*457+1G>A (n.*457+1G>A)
c.1188+1G>A (n.1188+1G>A)
c.1251+1G>A (n.1251+1G>A)
n.3093G>A
c.1254+1G>A (n.1254+1G>A)
c.1182+1G>A (n.1182+1G>A)
c.1146+1G>A (n.1146+1G>A)
c.1143+1G>A (n.1143+1G>A)
c.573+1G>A (n.573+1G>A)
n.1772-666C>T
c.1098+1G>A (n.1098+1G>A)
c.606+1G>A (n.606+1G>A)
 ClinVar dbSNP
2g.27366759C>ACA346197449EIF2B4,GTF3C2-AS2c.1191G>T (p.Glu397Asp)
c.*457G>T (n.*457G>T)
c.1188G>T (p.Glu396Asp)
c.1251G>T (p.Glu417Asp)
n.3092G>T
c.1254G>T (p.Glu418Asp)
c.1182G>T (p.Glu394Asp)
c.1146G>T (p.Glu382Asp)
c.1143G>T (p.Glu381Asp)
c.573G>T (p.Glu191Asp)
n.1772-665C>A
c.1098G>T (p.Glu366Asp)
c.606G>T (p.Glu202Asp)
 gnomAD v4
2g.27366759C=CA1240244336EIF2B4,GTF3C2-AS2c.1191G= (p.Glu397=)
c.*457G= (n.*457G=)
c.1188G= (p.Glu396=)
c.1251G= (p.Glu417=)
n.3092G=
c.1254G= (p.Glu418=)
c.1182G= (p.Glu394=)
c.1146G= (p.Glu382=)
c.1143G= (p.Glu381=)
c.573G= (p.Glu191=)
n.1772-665C=
c.1098G= (p.Glu366=)
c.606G= (p.Glu202=)
2g.27366759C>GCA346197450EIF2B4,GTF3C2-AS2c.1191G>C (p.Glu397Asp)
c.*457G>C (n.*457G>C)
c.1188G>C (p.Glu396Asp)
c.1251G>C (p.Glu417Asp)
n.3092G>C
c.1254G>C (p.Glu418Asp)
c.1182G>C (p.Glu394Asp)
c.1146G>C (p.Glu382Asp)
c.1143G>C (p.Glu381Asp)
c.573G>C (p.Glu191Asp)
n.1772-665C>G
c.1098G>C (p.Glu366Asp)
c.606G>C (p.Glu202Asp)
2g.27366759C>TCA425410504EIF2B4,GTF3C2-AS2c.1191G>A (p.Glu397=)
c.*457G>A (n.*457G>A)
c.1188G>A (p.Glu396=)
c.1251G>A (p.Glu417=)
n.3092G>A
c.1254G>A (p.Glu418=)
c.1182G>A (p.Glu394=)
c.1146G>A (p.Glu382=)
c.1143G>A (p.Glu381=)
c.573G>A (p.Glu191=)
n.1772-665C>T
c.1098G>A (p.Glu366=)
c.606G>A (p.Glu202=)
 dbSNP gnomAD v4
2g.27366760T>ACA346197451EIF2B4,GTF3C2-AS2c.1190A>T (p.Glu397Val)
c.*456A>T (n.*456A>T)
c.1187A>T (p.Glu396Val)
c.1250A>T (p.Glu417Val)
n.3091A>T
c.1253A>T (p.Glu418Val)
c.1181A>T (p.Glu394Val)
c.1145A>T (p.Glu382Val)
c.1142A>T (p.Glu381Val)
c.572A>T (p.Glu191Val)
n.1772-664T>A
c.1097A>T (p.Glu366Val)
c.605A>T (p.Glu202Val)
2g.27366760T>CCA346197452EIF2B4,GTF3C2-AS2c.1190A>G (p.Glu397Gly)
c.*456A>G (n.*456A>G)
c.1187A>G (p.Glu396Gly)
c.1250A>G (p.Glu417Gly)
n.3091A>G
c.1253A>G (p.Glu418Gly)
c.1181A>G (p.Glu394Gly)
c.1145A>G (p.Glu382Gly)
c.1142A>G (p.Glu381Gly)
c.572A>G (p.Glu191Gly)
n.1772-664T>C
c.1097A>G (p.Glu366Gly)
c.605A>G (p.Glu202Gly)
2g.27366760T>GCA346197453EIF2B4,GTF3C2-AS2c.1190A>C (p.Glu397Ala)
c.*456A>C (n.*456A>C)
c.1187A>C (p.Glu396Ala)
c.1250A>C (p.Glu417Ala)
n.3091A>C
c.1253A>C (p.Glu418Ala)
c.1181A>C (p.Glu394Ala)
c.1145A>C (p.Glu382Ala)
c.1142A>C (p.Glu381Ala)
c.572A>C (p.Glu191Ala)
n.1772-664T>G
c.1097A>C (p.Glu366Ala)
c.605A>C (p.Glu202Ala)
2g.27366761C>ACA346197454EIF2B4,GTF3C2-AS2c.1189G>T (p.Glu397Ter)
c.*455G>T (n.*455G>T)
c.1186G>T (p.Glu396Ter)
c.1249G>T (p.Glu417Ter)
n.3090G>T
c.1252G>T (p.Glu418Ter)
c.1180G>T (p.Glu394Ter)
c.1144G>T (p.Glu382Ter)
c.1141G>T (p.Glu381Ter)
c.571G>T (p.Glu191Ter)
n.1772-663C>A
c.1096G>T (p.Glu366Ter)
c.604G>T (p.Glu202Ter)
2g.27366761C>GCA346197455EIF2B4,GTF3C2-AS2c.1189G>C (p.Glu397Gln)
c.*455G>C (n.*455G>C)
c.1186G>C (p.Glu396Gln)
c.1249G>C (p.Glu417Gln)
n.3090G>C
c.1252G>C (p.Glu418Gln)
c.1180G>C (p.Glu394Gln)
c.1144G>C (p.Glu382Gln)
c.1141G>C (p.Glu381Gln)
c.571G>C (p.Glu191Gln)
n.1772-663C>G
c.1096G>C (p.Glu366Gln)
c.604G>C (p.Glu202Gln)
2g.27366761C>TCA346197456EIF2B4,GTF3C2-AS2c.1189G>A (p.Glu397Lys)
c.*455G>A (n.*455G>A)
c.1186G>A (p.Glu396Lys)
c.1249G>A (p.Glu417Lys)
n.3090G>A
c.1252G>A (p.Glu418Lys)
c.1180G>A (p.Glu394Lys)
c.1144G>A (p.Glu382Lys)
c.1141G>A (p.Glu381Lys)
c.571G>A (p.Glu191Lys)
n.1772-663C>T
c.1096G>A (p.Glu366Lys)
c.604G>A (p.Glu202Lys)
2g.27366762T>ACA425410506EIF2B4,GTF3C2-AS2c.1188A>T (p.Pro396=)
c.*454A>T (n.*454A>T)
c.1185A>T (p.Pro395=)
c.1248A>T (p.Pro416=)
n.3089A>T
c.1251A>T (p.Pro417=)
c.1179A>T (p.Pro393=)
c.1143A>T (p.Pro381=)
c.1140A>T (p.Pro380=)
c.570A>T (p.Pro190=)
n.1772-662T>A
c.1095A>T (p.Pro365=)
c.603A>T (p.Pro201=)
2g.27366762T>CCA425410507EIF2B4,GTF3C2-AS2c.1188A>G (p.Pro396=)
c.*454A>G (n.*454A>G)
c.1185A>G (p.Pro395=)
c.1248A>G (p.Pro416=)
n.3089A>G
c.1251A>G (p.Pro417=)
c.1179A>G (p.Pro393=)
c.1143A>G (p.Pro381=)
c.1140A>G (p.Pro380=)
c.570A>G (p.Pro190=)
n.1772-662T>C
c.1095A>G (p.Pro365=)
c.603A>G (p.Pro201=)
 ClinVar
2g.27366762T>GCA425410508EIF2B4,GTF3C2-AS2c.1188A>C (p.Pro396=)
c.*454A>C (n.*454A>C)
c.1185A>C (p.Pro395=)
c.1248A>C (p.Pro416=)
n.3089A>C
c.1251A>C (p.Pro417=)
c.1179A>C (p.Pro393=)
c.1143A>C (p.Pro381=)
c.1140A>C (p.Pro380=)
c.570A>C (p.Pro190=)
n.1772-662T>G
c.1095A>C (p.Pro365=)
c.603A>C (p.Pro201=)
2g.27366763G>ACA346197457EIF2B4,GTF3C2-AS2c.1187C>T (p.Pro396Leu)
c.*453C>T (n.*453C>T)
c.761C>T
c.1184C>T (p.Pro395Leu)
c.1247C>T (p.Pro416Leu)
n.3088C>T
c.1250C>T (p.Pro417Leu)
c.1178C>T (p.Pro393Leu)
c.1142C>T (p.Pro381Leu)
c.1139C>T (p.Pro380Leu)
c.569C>T (p.Pro190Leu)
n.1772-661G>A
c.1094C>T (p.Pro365Leu)
c.602C>T (p.Pro201Leu)
2g.27366763G>CCA346197458EIF2B4,GTF3C2-AS2c.1187C>G (p.Pro396Arg)
c.*453C>G (n.*453C>G)
c.761C>G
c.1184C>G (p.Pro395Arg)
c.1247C>G (p.Pro416Arg)
n.3088C>G
c.1250C>G (p.Pro417Arg)
c.1178C>G (p.Pro393Arg)
c.1142C>G (p.Pro381Arg)
c.1139C>G (p.Pro380Arg)
c.569C>G (p.Pro190Arg)
n.1772-661G>C
c.1094C>G (p.Pro365Arg)
c.602C>G (p.Pro201Arg)
2g.27366763G>TCA346197459EIF2B4,GTF3C2-AS2c.1187C>A (p.Pro396Gln)
c.*453C>A (n.*453C>A)
c.761C>A
c.1184C>A (p.Pro395Gln)
c.1247C>A (p.Pro416Gln)
n.3088C>A
c.1250C>A (p.Pro417Gln)
c.1178C>A (p.Pro393Gln)
c.1142C>A (p.Pro381Gln)
c.1139C>A (p.Pro380Gln)
c.569C>A (p.Pro190Gln)
n.1772-661G>T
c.1094C>A (p.Pro365Gln)
c.602C>A (p.Pro201Gln)
2g.27366763_27366764delinsAACA645539329EIF2B4,GTF3C2-AS2c.1186_1187delinsTT (p.Pro396Leu)
c.*452_*453delinsTT (n.*452_*453delinsTT)
c.760_761delinsTT
c.1183_1184delinsTT (p.Pro395Leu)
c.1246_1247delinsTT (p.Pro416Leu)
n.3087_3088delinsTT
c.1249_1250delinsTT (p.Pro417Leu)
c.1177_1178delinsTT (p.Pro393Leu)
c.1141_1142delinsTT (p.Pro381Leu)
c.1138_1139delinsTT (p.Pro380Leu)
c.568_569delinsTT (p.Pro190Leu)
n.1772-661_1772-660delinsAA
c.1093_1094delinsTT (p.Pro365Leu)
c.601_602delinsTT (p.Pro201Leu)
 COSMIC COSMIC
2g.27366764G>ACA346197462EIF2B4,GTF3C2-AS2c.1186C>T (p.Pro396Ser)
c.*452C>T (n.*452C>T)
c.760C>T
c.1183C>T (p.Pro395Ser)
c.1246C>T (p.Pro416Ser)
n.3087C>T
c.1249C>T (p.Pro417Ser)
c.1177C>T (p.Pro393Ser)
c.1141C>T (p.Pro381Ser)
c.1138C>T (p.Pro380Ser)
c.568C>T (p.Pro190Ser)
n.1772-660G>A
c.1093C>T (p.Pro365Ser)
c.601C>T (p.Pro201Ser)
2g.27366764G>CCA346197461EIF2B4,GTF3C2-AS2c.1186C>G (p.Pro396Ala)
c.*452C>G (n.*452C>G)
c.760C>G
c.1183C>G (p.Pro395Ala)
c.1246C>G (p.Pro416Ala)
n.3087C>G
c.1249C>G (p.Pro417Ala)
c.1177C>G (p.Pro393Ala)
c.1141C>G (p.Pro381Ala)
c.1138C>G (p.Pro380Ala)
c.568C>G (p.Pro190Ala)
n.1772-660G>C
c.1093C>G (p.Pro365Ala)
c.601C>G (p.Pro201Ala)
2g.27366764G>TCA346197460EIF2B4,GTF3C2-AS2c.1186C>A (p.Pro396Thr)
c.*452C>A (n.*452C>A)
c.760C>A
c.1183C>A (p.Pro395Thr)
c.1246C>A (p.Pro416Thr)
n.3087C>A
c.1249C>A (p.Pro417Thr)
c.1177C>A (p.Pro393Thr)
c.1141C>A (p.Pro381Thr)
c.1138C>A (p.Pro380Thr)
c.568C>A (p.Pro190Thr)
n.1772-660G>T
c.1093C>A (p.Pro365Thr)
c.601C>A (p.Pro201Thr)
2g.27366765G>ACA425410513EIF2B4,GTF3C2-AS2c.1185C>T (p.Leu395=)
c.*451C>T (n.*451C>T)
c.759C>T
c.1182C>T (p.Leu394=)
c.1245C>T (p.Leu415=)
n.3086C>T
c.1248C>T (p.Leu416=)
c.1176C>T (p.Leu392=)
c.1140C>T (p.Leu380=)
c.1137C>T (p.Leu379=)
c.567C>T (p.Leu189=)
n.1772-659G>A
c.1092C>T (p.Leu364=)
c.600C>T (p.Leu200=)
 gnomAD v4
2g.27366765G>CCA425410512EIF2B4,GTF3C2-AS2c.1185C>G (p.Leu395=)
c.*451C>G (n.*451C>G)
c.759C>G
c.1182C>G (p.Leu394=)
c.1245C>G (p.Leu415=)
n.3086C>G
c.1248C>G (p.Leu416=)
c.1176C>G (p.Leu392=)
c.1140C>G (p.Leu380=)
c.1137C>G (p.Leu379=)
c.567C>G (p.Leu189=)
n.1772-659G>C
c.1092C>G (p.Leu364=)
c.600C>G (p.Leu200=)
2g.27366765G>TCA425410511EIF2B4,GTF3C2-AS2c.1185C>A (p.Leu395=)
c.*451C>A (n.*451C>A)
c.759C>A
c.1182C>A (p.Leu394=)
c.1245C>A (p.Leu415=)
n.3086C>A
c.1248C>A (p.Leu416=)
c.1176C>A (p.Leu392=)
c.1140C>A (p.Leu380=)
c.1137C>A (p.Leu379=)
c.567C>A (p.Leu189=)
n.1772-659G>T
c.1092C>A (p.Leu364=)
c.600C>A (p.Leu200=)
2g.27366766A>CCA346197463EIF2B4,GTF3C2-AS2c.1184T>G (p.Leu395Arg)
c.*450T>G (n.*450T>G)
c.758T>G
c.1181T>G (p.Leu394Arg)
c.1244T>G (p.Leu415Arg)
n.3085T>G
c.1247T>G (p.Leu416Arg)
c.1175T>G (p.Leu392Arg)
c.1139T>G (p.Leu380Arg)
c.1136T>G (p.Leu379Arg)
c.566T>G (p.Leu189Arg)
n.1772-658A>C
c.1091T>G (p.Leu364Arg)
c.599T>G (p.Leu200Arg)
2g.27366766A>GCA346197464EIF2B4,GTF3C2-AS2c.1184T>C (p.Leu395Pro)
c.*450T>C (n.*450T>C)
c.758T>C
c.1181T>C (p.Leu394Pro)
c.1244T>C (p.Leu415Pro)
n.3085T>C
c.1247T>C (p.Leu416Pro)
c.1175T>C (p.Leu392Pro)
c.1139T>C (p.Leu380Pro)
c.1136T>C (p.Leu379Pro)
c.566T>C (p.Leu189Pro)
n.1772-658A>G
c.1091T>C (p.Leu364Pro)
c.599T>C (p.Leu200Pro)
2g.27366766A>TCA346197465EIF2B4,GTF3C2-AS2c.1184T>A (p.Leu395His)
c.*450T>A (n.*450T>A)
c.758T>A
c.1181T>A (p.Leu394His)
c.1244T>A (p.Leu415His)
n.3085T>A
c.1247T>A (p.Leu416His)
c.1175T>A (p.Leu392His)
c.1139T>A (p.Leu380His)
c.1136T>A (p.Leu379His)
c.566T>A (p.Leu189His)
n.1772-658A>T
c.1091T>A (p.Leu364His)
c.599T>A (p.Leu200His)
2g.27366767G>ACA346197466EIF2B4,GTF3C2-AS2c.1183C>T (p.Leu395Phe)
c.*449C>T (n.*449C>T)
c.757C>T
c.1180C>T (p.Leu394Phe)
c.1243C>T (p.Leu415Phe)
n.3084C>T
c.1246C>T (p.Leu416Phe)
c.1174C>T (p.Leu392Phe)
c.1138C>T (p.Leu380Phe)
c.1135C>T (p.Leu379Phe)
c.565C>T (p.Leu189Phe)
n.1772-657G>A
c.1090C>T (p.Leu364Phe)
c.598C>T (p.Leu200Phe)
2g.27366767G>CCA346197467EIF2B4,GTF3C2-AS2c.1183C>G (p.Leu395Val)
c.*449C>G (n.*449C>G)
c.757C>G
c.1180C>G (p.Leu394Val)
c.1243C>G (p.Leu415Val)
n.3084C>G
c.1246C>G (p.Leu416Val)
c.1174C>G (p.Leu392Val)
c.1138C>G (p.Leu380Val)
c.1135C>G (p.Leu379Val)
c.565C>G (p.Leu189Val)
n.1772-657G>C
c.1090C>G (p.Leu364Val)
c.598C>G (p.Leu200Val)
2g.27366767G>TCA346197468EIF2B4,GTF3C2-AS2c.1183C>A (p.Leu395Ile)
c.*449C>A (n.*449C>A)
c.757C>A
c.1180C>A (p.Leu394Ile)
c.1243C>A (p.Leu415Ile)
n.3084C>A
c.1246C>A (p.Leu416Ile)
c.1174C>A (p.Leu392Ile)
c.1138C>A (p.Leu380Ile)
c.1135C>A (p.Leu379Ile)
c.565C>A (p.Leu189Ile)
n.1772-657G>T
c.1090C>A (p.Leu364Ile)
c.598C>A (p.Leu200Ile)
2g.27366768C>ACA425410515EIF2B4,GTF3C2-AS2c.1182G>T (p.Val394=)
c.*448G>T (n.*448G>T)
c.756G>T
c.1179G>T (p.Val393=)
c.1242G>T (p.Val414=)
n.3083G>T
c.1245G>T (p.Val415=)
c.1173G>T (p.Val391=)
c.1137G>T (p.Val379=)
c.1134G>T (p.Val378=)
c.564G>T (p.Val188=)
n.1772-656C>A
c.1089G>T (p.Val363=)
c.597G>T (p.Val199=)
2g.27366768C>GCA425410516EIF2B4,GTF3C2-AS2c.1182G>C (p.Val394=)
c.*448G>C (n.*448G>C)
c.756G>C
c.1179G>C (p.Val393=)
c.1242G>C (p.Val414=)
n.3083G>C
c.1245G>C (p.Val415=)
c.1173G>C (p.Val391=)
c.1137G>C (p.Val379=)
c.1134G>C (p.Val378=)
c.564G>C (p.Val188=)
n.1772-656C>G
c.1089G>C (p.Val363=)
c.597G>C (p.Val199=)
2g.27366768C>TCA425410517EIF2B4,GTF3C2-AS2c.1182G>A (p.Val394=)
c.*448G>A (n.*448G>A)
c.756G>A
c.1179G>A (p.Val393=)
c.1242G>A (p.Val414=)
n.3083G>A
c.1245G>A (p.Val415=)
c.1173G>A (p.Val391=)
c.1137G>A (p.Val379=)
c.1134G>A (p.Val378=)
c.564G>A (p.Val188=)
n.1772-656C>T
c.1089G>A (p.Val363=)
c.597G>A (p.Val199=)
2g.27366769A=CA1240244339EIF2B4,GTF3C2-AS2c.1181T= (p.Val394=)
c.*447T= (n.*447T=)
c.755T=
c.1178T= (p.Val393=)
c.1241T= (p.Val414=)
n.3082T=
c.1244T= (p.Val415=)
c.1172T= (p.Val391=)
c.1136T= (p.Val379=)
c.1133T= (p.Val378=)
c.563T= (p.Val188=)
n.1772-655A=
c.1088T= (p.Val363=)
c.596T= (p.Val199=)
2g.27366769A>CCA346197469EIF2B4,GTF3C2-AS2c.1181T>G (p.Val394Gly)
c.*447T>G (n.*447T>G)
c.755T>G
c.1178T>G (p.Val393Gly)
c.1241T>G (p.Val414Gly)
n.3082T>G
c.1244T>G (p.Val415Gly)
c.1172T>G (p.Val391Gly)
c.1136T>G (p.Val379Gly)
c.1133T>G (p.Val378Gly)
c.563T>G (p.Val188Gly)
n.1772-655A>C
c.1088T>G (p.Val363Gly)
c.596T>G (p.Val199Gly)
2g.27366769A>GCA1576642EIF2B4,GTF3C2-AS2c.1181T>C (p.Val394Ala)
c.*447T>C (n.*447T>C)
c.755T>C
c.1178T>C (p.Val393Ala)
c.1241T>C (p.Val414Ala)
n.3082T>C
c.1244T>C (p.Val415Ala)
c.1172T>C (p.Val391Ala)
c.1136T>C (p.Val379Ala)
c.1133T>C (p.Val378Ala)
c.563T>C (p.Val188Ala)
n.1772-655A>G
c.1088T>C (p.Val363Ala)
c.596T>C (p.Val199Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27366769A>TCA346197470EIF2B4,GTF3C2-AS2c.1181T>A (p.Val394Glu)
c.*447T>A (n.*447T>A)
c.755T>A
c.1178T>A (p.Val393Glu)
c.1241T>A (p.Val414Glu)
n.3082T>A
c.1244T>A (p.Val415Glu)
c.1172T>A (p.Val391Glu)
c.1136T>A (p.Val379Glu)
c.1133T>A (p.Val378Glu)
c.563T>A (p.Val188Glu)
n.1772-655A>T
c.1088T>A (p.Val363Glu)
c.596T>A (p.Val199Glu)
2g.27366770C>ACA346197472EIF2B4,GTF3C2-AS2c.1180G>T (p.Val394Leu)
c.*446G>T (n.*446G>T)
c.754G>T
c.1177G>T (p.Val393Leu)
c.1240G>T (p.Val414Leu)
n.3081G>T
c.1243G>T (p.Val415Leu)
c.1171G>T (p.Val391Leu)
c.1135G>T (p.Val379Leu)
c.1132G>T (p.Val378Leu)
c.562G>T (p.Val188Leu)
n.1772-654C>A
c.1087G>T (p.Val363Leu)
c.595G>T (p.Val199Leu)
2g.27366770C>GCA346197473EIF2B4,GTF3C2-AS2c.1180G>C (p.Val394Leu)
c.*446G>C (n.*446G>C)
c.754G>C
c.1177G>C (p.Val393Leu)
c.1240G>C (p.Val414Leu)
n.3081G>C
c.1243G>C (p.Val415Leu)
c.1171G>C (p.Val391Leu)
c.1135G>C (p.Val379Leu)
c.1132G>C (p.Val378Leu)
c.562G>C (p.Val188Leu)
n.1772-654C>G
c.1087G>C (p.Val363Leu)
c.595G>C (p.Val199Leu)
2g.27366770C>TCA346197475EIF2B4,GTF3C2-AS2c.1180G>A (p.Val394Met)
c.*446G>A (n.*446G>A)
c.754G>A
c.1177G>A (p.Val393Met)
c.1240G>A (p.Val414Met)
n.3081G>A
c.1243G>A (p.Val415Met)
c.1171G>A (p.Val391Met)
c.1135G>A (p.Val379Met)
c.1132G>A (p.Val378Met)
c.562G>A (p.Val188Met)
n.1772-654C>T
c.1087G>A (p.Val363Met)
c.595G>A (p.Val199Met)
 ClinVar gnomAD v4
2g.27366771A>CCA346197477EIF2B4,GTF3C2-AS2c.1179T>G (p.Tyr393Ter)
c.*445T>G (n.*445T>G)
c.753T>G
c.1176T>G (p.Tyr392Ter)
c.1239T>G (p.Tyr413Ter)
n.3080T>G
c.1242T>G (p.Tyr414Ter)
c.1170T>G (p.Tyr390Ter)
c.1134T>G (p.Tyr378Ter)
c.1131T>G (p.Tyr377Ter)
c.561T>G (p.Tyr187Ter)
n.1772-653A>C
c.1086T>G (p.Tyr362Ter)
c.594T>G (p.Tyr198Ter)
2g.27366771A>GCA425410519EIF2B4,GTF3C2-AS2c.1179T>C (p.Tyr393=)
c.*445T>C (n.*445T>C)
c.753T>C
c.1176T>C (p.Tyr392=)
c.1239T>C (p.Tyr413=)
n.3080T>C
c.1242T>C (p.Tyr414=)
c.1170T>C (p.Tyr390=)
c.1134T>C (p.Tyr378=)
c.1131T>C (p.Tyr377=)
c.561T>C (p.Tyr187=)
n.1772-653A>G
c.1086T>C (p.Tyr362=)
c.594T>C (p.Tyr198=)
2g.27366771A>TCA346197478EIF2B4,GTF3C2-AS2c.1179T>A (p.Tyr393Ter)
c.*445T>A (n.*445T>A)
c.753T>A
c.1176T>A (p.Tyr392Ter)
c.1239T>A (p.Tyr413Ter)
n.3080T>A
c.1242T>A (p.Tyr414Ter)
c.1170T>A (p.Tyr390Ter)
c.1134T>A (p.Tyr378Ter)
c.1131T>A (p.Tyr377Ter)
c.561T>A (p.Tyr187Ter)
n.1772-653A>T
c.1086T>A (p.Tyr362Ter)
c.594T>A (p.Tyr198Ter)
2g.27366772T>ACA346197480EIF2B4,GTF3C2-AS2c.1178A>T (p.Tyr393Phe)
c.*444A>T (n.*444A>T)
c.752A>T
c.1175A>T (p.Tyr392Phe)
c.1238A>T (p.Tyr413Phe)
n.3079A>T
c.1241A>T (p.Tyr414Phe)
c.1169A>T (p.Tyr390Phe)
c.1133A>T (p.Tyr378Phe)
c.1130A>T (p.Tyr377Phe)
c.560A>T (p.Tyr187Phe)
n.1772-652T>A
c.1085A>T (p.Tyr362Phe)
c.593A>T (p.Tyr198Phe)
2g.27366772T>CCA346197482EIF2B4,GTF3C2-AS2c.1178A>G (p.Tyr393Cys)
c.*444A>G (n.*444A>G)
c.752A>G
c.1175A>G (p.Tyr392Cys)
c.1238A>G (p.Tyr413Cys)
n.3079A>G
c.1241A>G (p.Tyr414Cys)
c.1169A>G (p.Tyr390Cys)
c.1133A>G (p.Tyr378Cys)
c.1130A>G (p.Tyr377Cys)
c.560A>G (p.Tyr187Cys)
n.1772-652T>C
c.1085A>G (p.Tyr362Cys)
c.593A>G (p.Tyr198Cys)
 dbSNP gnomAD v4
2g.27366772T>GCA346197483EIF2B4,GTF3C2-AS2c.1178A>C (p.Tyr393Ser)
c.*444A>C (n.*444A>C)
c.752A>C
c.1175A>C (p.Tyr392Ser)
c.1238A>C (p.Tyr413Ser)
n.3079A>C
c.1241A>C (p.Tyr414Ser)
c.1169A>C (p.Tyr390Ser)
c.1133A>C (p.Tyr378Ser)
c.1130A>C (p.Tyr377Ser)
c.560A>C (p.Tyr187Ser)
n.1772-652T>G
c.1085A>C (p.Tyr362Ser)
c.593A>C (p.Tyr198Ser)
 dbSNP gnomAD v4
2g.27366772T=CA1240244345EIF2B4,GTF3C2-AS2c.1178A= (p.Tyr393=)
c.*444A= (n.*444A=)
c.752A=
c.1175A= (p.Tyr392=)
c.1238A= (p.Tyr413=)
n.3079A=
c.1241A= (p.Tyr414=)
c.1169A= (p.Tyr390=)
c.1133A= (p.Tyr378=)
c.1130A= (p.Tyr377=)
c.560A= (p.Tyr187=)
n.1772-652T=
c.1085A= (p.Tyr362=)
c.593A= (p.Tyr198=)
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.27366773A>CCA346197485EIF2B4,GTF3C2-AS2c.1177T>G (p.Tyr393Asp)
c.*443T>G (n.*443T>G)
c.751T>G
c.1174T>G (p.Tyr392Asp)
c.1237T>G (p.Tyr413Asp)
n.3078T>G
c.1240T>G (p.Tyr414Asp)
c.1168T>G (p.Tyr390Asp)
c.1132T>G (p.Tyr378Asp)
c.1129T>G (p.Tyr377Asp)
c.559T>G (p.Tyr187Asp)
n.1772-651A>C
c.1084T>G (p.Tyr362Asp)
c.592T>G (p.Tyr198Asp)
2g.27366773A>GCA346197486EIF2B4,GTF3C2-AS2c.1177T>C (p.Tyr393His)
c.*443T>C (n.*443T>C)
c.751T>C
c.1174T>C (p.Tyr392His)
c.1237T>C (p.Tyr413His)
n.3078T>C
c.1240T>C (p.Tyr414His)
c.1168T>C (p.Tyr390His)
c.1132T>C (p.Tyr378His)
c.1129T>C (p.Tyr377His)
c.559T>C (p.Tyr187His)
n.1772-651A>G
c.1084T>C (p.Tyr362His)
c.592T>C (p.Tyr198His)
2g.27366773A>TCA346197488EIF2B4,GTF3C2-AS2c.1177T>A (p.Tyr393Asn)
c.*443T>A (n.*443T>A)
c.751T>A
c.1174T>A (p.Tyr392Asn)
c.1237T>A (p.Tyr413Asn)
n.3078T>A
c.1240T>A (p.Tyr414Asn)
c.1168T>A (p.Tyr390Asn)
c.1132T>A (p.Tyr378Asn)
c.1129T>A (p.Tyr377Asn)
c.559T>A (p.Tyr187Asn)
n.1772-651A>T
c.1084T>A (p.Tyr362Asn)
c.592T>A (p.Tyr198Asn)
2g.27366774G>ACA425410520EIF2B4,GTF3C2-AS2c.1176C>T (p.Ser392=)
c.*442C>T (n.*442C>T)
c.750C>T
c.1173C>T (p.Ser391=)
c.1236C>T (p.Ser412=)
n.3077C>T
c.1239C>T (p.Ser413=)
c.1167C>T (p.Ser389=)
c.1131C>T (p.Ser377=)
c.1128C>T (p.Ser376=)
c.558C>T (p.Ser186=)
n.1772-650G>A
c.1083C>T (p.Ser361=)
c.591C>T (p.Ser197=)
2g.27366774G>CCA425410521EIF2B4,GTF3C2-AS2c.1176C>G (p.Ser392=)
c.*442C>G (n.*442C>G)
c.750C>G
c.1173C>G (p.Ser391=)
c.1236C>G (p.Ser412=)
n.3077C>G
c.1239C>G (p.Ser413=)
c.1167C>G (p.Ser389=)
c.1131C>G (p.Ser377=)
c.1128C>G (p.Ser376=)
c.558C>G (p.Ser186=)
n.1772-650G>C
c.1083C>G (p.Ser361=)
c.591C>G (p.Ser197=)
2g.27366774G>TCA425410522EIF2B4,GTF3C2-AS2c.1176C>A (p.Ser392=)
c.*442C>A (n.*442C>A)
c.750C>A
c.1173C>A (p.Ser391=)
c.1236C>A (p.Ser412=)
n.3077C>A
c.1239C>A (p.Ser413=)
c.1167C>A (p.Ser389=)
c.1131C>A (p.Ser377=)
c.1128C>A (p.Ser376=)
c.558C>A (p.Ser186=)
n.1772-650G>T
c.1083C>A (p.Ser361=)
c.591C>A (p.Ser197=)
2g.27366775G>ACA346197489EIF2B4,GTF3C2-AS2c.1175C>T (p.Ser392Phe)
c.*441C>T (n.*441C>T)
c.749C>T
c.1172C>T (p.Ser391Phe)
c.1235C>T (p.Ser412Phe)
n.3076C>T
c.1238C>T (p.Ser413Phe)
c.1166C>T (p.Ser389Phe)
c.1130C>T (p.Ser377Phe)
c.1127C>T (p.Ser376Phe)
c.557C>T (p.Ser186Phe)
n.1772-649G>A
c.1082C>T (p.Ser361Phe)
c.590C>T (p.Ser197Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.27366775G>CCA346197491EIF2B4,GTF3C2-AS2c.1175C>G (p.Ser392Cys)
c.*441C>G (n.*441C>G)
c.749C>G
c.1172C>G (p.Ser391Cys)
c.1235C>G (p.Ser412Cys)
n.3076C>G
c.1238C>G (p.Ser413Cys)
c.1166C>G (p.Ser389Cys)
c.1130C>G (p.Ser377Cys)
c.1127C>G (p.Ser376Cys)
c.557C>G (p.Ser186Cys)
n.1772-649G>C
c.1082C>G (p.Ser361Cys)
c.590C>G (p.Ser197Cys)
2g.27366775G=CA1240244347EIF2B4,GTF3C2-AS2c.1175C= (p.Ser392=)
c.*441C= (n.*441C=)
c.749C=
c.1172C= (p.Ser391=)
c.1235C= (p.Ser412=)
n.3076C=
c.1238C= (p.Ser413=)
c.1166C= (p.Ser389=)
c.1130C= (p.Ser377=)
c.1127C= (p.Ser376=)
c.557C= (p.Ser186=)
n.1772-649G=
c.1082C= (p.Ser361=)
c.590C= (p.Ser197=)
2g.27366775G>TCA346197493EIF2B4,GTF3C2-AS2c.1175C>A (p.Ser392Tyr)
c.*441C>A (n.*441C>A)
c.749C>A
c.1172C>A (p.Ser391Tyr)
c.1235C>A (p.Ser412Tyr)
n.3076C>A
c.1238C>A (p.Ser413Tyr)
c.1166C>A (p.Ser389Tyr)
c.1130C>A (p.Ser377Tyr)
c.1127C>A (p.Ser376Tyr)
c.557C>A (p.Ser186Tyr)
n.1772-649G>T
c.1082C>A (p.Ser361Tyr)
c.590C>A (p.Ser197Tyr)
2g.27366776A=CA1240244350EIF2B4,GTF3C2-AS2c.1174T= (p.Ser392=)
c.*440T= (n.*440T=)
c.748T=
c.1171T= (p.Ser391=)
c.1234T= (p.Ser412=)
n.3075T=
c.1237T= (p.Ser413=)
c.1165T= (p.Ser389=)
c.1129T= (p.Ser377=)
c.1126T= (p.Ser376=)
c.556T= (p.Ser186=)
n.1772-648A=
c.1081T= (p.Ser361=)
c.589T= (p.Ser197=)
2g.27366776A>CCA346197494EIF2B4,GTF3C2-AS2c.1174T>G (p.Ser392Ala)
c.*440T>G (n.*440T>G)
c.748T>G
c.1171T>G (p.Ser391Ala)
c.1234T>G (p.Ser412Ala)
n.3075T>G
c.1237T>G (p.Ser413Ala)
c.1165T>G (p.Ser389Ala)
c.1129T>G (p.Ser377Ala)
c.1126T>G (p.Ser376Ala)
c.556T>G (p.Ser186Ala)
n.1772-648A>C
c.1081T>G (p.Ser361Ala)
c.589T>G (p.Ser197Ala)
 dbSNP gnomAD v4
2g.27366776A>GCA346197495EIF2B4,GTF3C2-AS2c.1174T>C (p.Ser392Pro)
c.*440T>C (n.*440T>C)
c.748T>C
c.1171T>C (p.Ser391Pro)
c.1234T>C (p.Ser412Pro)
n.3075T>C
c.1237T>C (p.Ser413Pro)
c.1165T>C (p.Ser389Pro)
c.1129T>C (p.Ser377Pro)
c.1126T>C (p.Ser376Pro)
c.556T>C (p.Ser186Pro)
n.1772-648A>G
c.1081T>C (p.Ser361Pro)
c.589T>C (p.Ser197Pro)
2g.27366776A>TCA346197497EIF2B4,GTF3C2-AS2c.1174T>A (p.Ser392Thr)
c.*440T>A (n.*440T>A)
c.748T>A
c.1171T>A (p.Ser391Thr)
c.1234T>A (p.Ser412Thr)
n.3075T>A
c.1237T>A (p.Ser413Thr)
c.1165T>A (p.Ser389Thr)
c.1129T>A (p.Ser377Thr)
c.1126T>A (p.Ser376Thr)
c.556T>A (p.Ser186Thr)
n.1772-648A>T
c.1081T>A (p.Ser361Thr)
c.589T>A (p.Ser197Thr)
2g.27366777G>ACA425410525EIF2B4,GTF3C2-AS2c.1173C>T (p.Ala391=)
c.*439C>T (n.*439C>T)
c.747C>T
c.1170C>T (p.Ala390=)
c.1233C>T (p.Ala411=)
n.3074C>T
c.1236C>T (p.Ala412=)
c.1164C>T (p.Ala388=)
c.1128C>T (p.Ala376=)
c.1125C>T (p.Ala375=)
c.555C>T (p.Ala185=)
n.1772-647G>A
c.1080C>T (p.Ala360=)
c.588C>T (p.Ala196=)
 ClinVar
2g.27366777G>CCA425410527EIF2B4,GTF3C2-AS2c.1173C>G (p.Ala391=)
c.*439C>G (n.*439C>G)
c.747C>G
c.1170C>G (p.Ala390=)
c.1233C>G (p.Ala411=)
n.3074C>G
c.1236C>G (p.Ala412=)
c.1164C>G (p.Ala388=)
c.1128C>G (p.Ala376=)
c.1125C>G (p.Ala375=)
c.555C>G (p.Ala185=)
n.1772-647G>C
c.1080C>G (p.Ala360=)
c.588C>G (p.Ala196=)
 ClinVar dbSNP gnomAD v4
2g.27366777G=CA1240244353EIF2B4,GTF3C2-AS2c.1173C= (p.Ala391=)
c.*439C= (n.*439C=)
c.747C=
c.1170C= (p.Ala390=)
c.1233C= (p.Ala411=)
n.3074C=
c.1236C= (p.Ala412=)
c.1164C= (p.Ala388=)
c.1128C= (p.Ala376=)
c.1125C= (p.Ala375=)
c.555C= (p.Ala185=)
n.1772-647G=
c.1080C= (p.Ala360=)
c.588C= (p.Ala196=)
2g.27366777G>TCA425410528EIF2B4,GTF3C2-AS2c.1173C>A (p.Ala391=)
c.*439C>A (n.*439C>A)
c.747C>A
c.1170C>A (p.Ala390=)
c.1233C>A (p.Ala411=)
n.3074C>A
c.1236C>A (p.Ala412=)
c.1164C>A (p.Ala388=)
c.1128C>A (p.Ala376=)
c.1125C>A (p.Ala375=)
c.555C>A (p.Ala185=)
n.1772-647G>T
c.1080C>A (p.Ala360=)
c.588C>A (p.Ala196=)
2g.27366778G>ACA1576644EIF2B4,GTF3C2-AS2c.1172C>T (p.Ala391Val)
c.*438C>T (n.*438C>T)
c.746C>T
c.1169C>T (p.Ala390Val)
c.1232C>T (p.Ala411Val)
n.3073C>T
c.1235C>T (p.Ala412Val)
c.1163C>T (p.Ala388Val)
c.1127C>T (p.Ala376Val)
c.1124C>T (p.Ala375Val)
c.554C>T (p.Ala185Val)
n.1772-646G>A
c.1079C>T (p.Ala360Val)
c.587C>T (p.Ala196Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27366778G>CCA1576643EIF2B4,GTF3C2-AS2c.1172C>G (p.Ala391Gly)
c.*438C>G (n.*438C>G)
c.746C>G
c.1169C>G (p.Ala390Gly)
c.1232C>G (p.Ala411Gly)
n.3073C>G
c.1235C>G (p.Ala412Gly)
c.1163C>G (p.Ala388Gly)
c.1127C>G (p.Ala376Gly)
c.1124C>G (p.Ala375Gly)
c.554C>G (p.Ala185Gly)
n.1772-646G>C
c.1079C>G (p.Ala360Gly)
c.587C>G (p.Ala196Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27366778G=CA1240244358EIF2B4,GTF3C2-AS2c.1172C= (p.Ala391=)
c.*438C= (n.*438C=)
c.746C=
c.1169C= (p.Ala390=)
c.1232C= (p.Ala411=)
n.3073C=
c.1235C= (p.Ala412=)
c.1163C= (p.Ala388=)
c.1127C= (p.Ala376=)
c.1124C= (p.Ala375=)
c.554C= (p.Ala185=)
n.1772-646G=
c.1079C= (p.Ala360=)
c.587C= (p.Ala196=)
2g.27366778G>TCA44511340EIF2B4,GTF3C2-AS2c.1172C>A (p.Ala391Asp)
c.*438C>A (n.*438C>A)
c.746C>A
c.1169C>A (p.Ala390Asp)
c.1232C>A (p.Ala411Asp)
n.3073C>A
c.1235C>A (p.Ala412Asp)
c.1163C>A (p.Ala388Asp)
c.1127C>A (p.Ala376Asp)
c.1124C>A (p.Ala375Asp)
c.554C>A (p.Ala185Asp)
n.1772-646G>T
c.1079C>A (p.Ala360Asp)
c.587C>A (p.Ala196Asp)
 ClinVar dbSNP gnomAD v4
2g.27366779C>ACA346197501EIF2B4,GTF3C2-AS2c.1171G>T (p.Ala391Ser)
c.*437G>T (n.*437G>T)
c.745G>T
c.1168G>T (p.Ala390Ser)
c.1231G>T (p.Ala411Ser)
n.3072G>T
c.1234G>T (p.Ala412Ser)
c.1162G>T (p.Ala388Ser)
c.1126G>T (p.Ala376Ser)
c.1123G>T (p.Ala375Ser)
c.553G>T (p.Ala185Ser)
n.1772-645C>A
c.1078G>T (p.Ala360Ser)
c.586G>T (p.Ala196Ser)
2g.27366779C>GCA346197502EIF2B4,GTF3C2-AS2c.1171G>C (p.Ala391Pro)
c.*437G>C (n.*437G>C)
c.745G>C
c.1168G>C (p.Ala390Pro)
c.1231G>C (p.Ala411Pro)
n.3072G>C
c.1234G>C (p.Ala412Pro)
c.1162G>C (p.Ala388Pro)
c.1126G>C (p.Ala376Pro)
c.1123G>C (p.Ala375Pro)
c.553G>C (p.Ala185Pro)
n.1772-645C>G
c.1078G>C (p.Ala360Pro)
c.586G>C (p.Ala196Pro)
2g.27366779C>TCA346197504EIF2B4,GTF3C2-AS2c.1171G>A (p.Ala391Thr)
c.*437G>A (n.*437G>A)
c.745G>A
c.1168G>A (p.Ala390Thr)
c.1231G>A (p.Ala411Thr)
n.3072G>A
c.1234G>A (p.Ala412Thr)
c.1162G>A (p.Ala388Thr)
c.1126G>A (p.Ala376Thr)
c.1123G>A (p.Ala375Thr)
c.553G>A (p.Ala185Thr)
n.1772-645C>T
c.1078G>A (p.Ala360Thr)
c.586G>A (p.Ala196Thr)
2g.27366780T>ACA425410530EIF2B4,GTF3C2-AS2c.1170A>T (p.Ala390=)
c.*436A>T (n.*436A>T)
c.744A>T
c.1167A>T (p.Ala389=)
c.1230A>T (p.Ala410=)
n.3071A>T
c.1233A>T (p.Ala411=)
c.1161A>T (p.Ala387=)
c.1125A>T (p.Ala375=)
c.1122A>T (p.Ala374=)
c.552A>T (p.Ala184=)
n.1772-644T>A
c.1077A>T (p.Ala359=)
c.585A>T (p.Ala195=)
2g.27366780T>CCA425410531EIF2B4,GTF3C2-AS2c.1170A>G (p.Ala390=)
c.*436A>G (n.*436A>G)
c.744A>G
c.1167A>G (p.Ala389=)
c.1230A>G (p.Ala410=)
n.3071A>G
c.1233A>G (p.Ala411=)
c.1161A>G (p.Ala387=)
c.1125A>G (p.Ala375=)
c.1122A>G (p.Ala374=)
c.552A>G (p.Ala184=)
n.1772-644T>C
c.1077A>G (p.Ala359=)
c.585A>G (p.Ala195=)
2g.27366780T>GCA425410532EIF2B4,GTF3C2-AS2c.1170A>C (p.Ala390=)
c.*436A>C (n.*436A>C)
c.744A>C
c.1167A>C (p.Ala389=)
c.1230A>C (p.Ala410=)
n.3071A>C
c.1233A>C (p.Ala411=)
c.1161A>C (p.Ala387=)
c.1125A>C (p.Ala375=)
c.1122A>C (p.Ala374=)
c.552A>C (p.Ala184=)
n.1772-644T>G
c.1077A>C (p.Ala359=)
c.585A>C (p.Ala195=)
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)

Number of alleles fetched