Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27366782_27367008delCA2697547926EIF2B4,GTF3C2-AS2c.1013+67_1169del
c.*279+67_*435del
c.588-71_743del
c.1010+67_1166del
c.1073+67_1229del
n.2844_3070del
c.1076+67_1232del
c.1004+67_1160del
c.968+67_1124del
c.965+67_1121del
c.395+67_551del
n.1772-642_1772-416del
c.920+67_1076del
c.428+67_584del
 ClinVar
2g.27366881G>ACA1576662EIF2B4,GTF3C2-AS2c.1069C>T (p.Arg357Trp)
c.*335C>T (n.*335C>T)
c.643C>T
c.1066C>T (p.Arg356Trp)
c.1129C>T (p.Arg377Trp)
n.2970C>T
c.1132C>T (p.Arg378Trp)
c.1060C>T (p.Arg354Trp)
c.1024C>T (p.Arg342Trp)
c.1021C>T (p.Arg341Trp)
c.451C>T (p.Arg151Trp)
n.1772-543G>A
c.976C>T (p.Arg326Trp)
c.484C>T (p.Arg162Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.27366881G>CCA346198062EIF2B4,GTF3C2-AS2c.1069C>G (p.Arg357Gly)
c.*335C>G (n.*335C>G)
c.643C>G
c.1066C>G (p.Arg356Gly)
c.1129C>G (p.Arg377Gly)
n.2970C>G
c.1132C>G (p.Arg378Gly)
c.1060C>G (p.Arg354Gly)
c.1024C>G (p.Arg342Gly)
c.1021C>G (p.Arg341Gly)
c.451C>G (p.Arg151Gly)
n.1772-543G>C
c.976C>G (p.Arg326Gly)
c.484C>G (p.Arg162Gly)
2g.27366881G=CA1240244536EIF2B4,GTF3C2-AS2c.1069C= (p.Arg357=)
c.*335C= (n.*335C=)
c.643C=
c.1066C= (p.Arg356=)
c.1129C= (p.Arg377=)
n.2970C=
c.1132C= (p.Arg378=)
c.1060C= (p.Arg354=)
c.1024C= (p.Arg342=)
c.1021C= (p.Arg341=)
c.451C= (p.Arg151=)
n.1772-543G=
c.976C= (p.Arg326=)
c.484C= (p.Arg162=)
2g.27366881G>TCA425606783EIF2B4,GTF3C2-AS2c.1069C>A (p.Arg357=)
c.*335C>A (n.*335C>A)
c.643C>A
c.1066C>A (p.Arg356=)
c.1129C>A (p.Arg377=)
n.2970C>A
c.1132C>A (p.Arg378=)
c.1060C>A (p.Arg354=)
c.1024C>A (p.Arg342=)
c.1021C>A (p.Arg341=)
c.451C>A (p.Arg151=)
n.1772-543G>T
c.976C>A (p.Arg326=)
c.484C>A (p.Arg162=)
2g.27366882A=CA1240244540EIF2B4,GTF3C2-AS2c.1068T= (p.Phe356=)
c.*334T= (n.*334T=)
c.642T=
c.1065T= (p.Phe355=)
c.1128T= (p.Phe376=)
n.2969T=
c.1131T= (p.Phe377=)
c.1059T= (p.Phe353=)
c.1023T= (p.Phe341=)
c.1020T= (p.Phe340=)
c.450T= (p.Phe150=)
n.1772-542A=
c.975T= (p.Phe325=)
c.483T= (p.Phe161=)
2g.27366882A>CCA346198063EIF2B4,GTF3C2-AS2c.1068T>G (p.Phe356Leu)
c.*334T>G (n.*334T>G)
c.642T>G
c.1065T>G (p.Phe355Leu)
c.1128T>G (p.Phe376Leu)
n.2969T>G
c.1131T>G (p.Phe377Leu)
c.1059T>G (p.Phe353Leu)
c.1023T>G (p.Phe341Leu)
c.1020T>G (p.Phe340Leu)
c.450T>G (p.Phe150Leu)
n.1772-542A>C
c.975T>G (p.Phe325Leu)
c.483T>G (p.Phe161Leu)
 gnomAD v4
2g.27366882A>GCA1576663EIF2B4,GTF3C2-AS2c.1068T>C (p.Phe356=)
c.*334T>C (n.*334T>C)
c.642T>C
c.1065T>C (p.Phe355=)
c.1128T>C (p.Phe376=)
n.2969T>C
c.1131T>C (p.Phe377=)
c.1059T>C (p.Phe353=)
c.1023T>C (p.Phe341=)
c.1020T>C (p.Phe340=)
c.450T>C (p.Phe150=)
n.1772-542A>G
c.975T>C (p.Phe325=)
c.483T>C (p.Phe161=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27366882A>TCA346198065EIF2B4,GTF3C2-AS2c.1068T>A (p.Phe356Leu)
c.*334T>A (n.*334T>A)
c.642T>A
c.1065T>A (p.Phe355Leu)
c.1128T>A (p.Phe376Leu)
n.2969T>A
c.1131T>A (p.Phe377Leu)
c.1059T>A (p.Phe353Leu)
c.1023T>A (p.Phe341Leu)
c.1020T>A (p.Phe340Leu)
c.450T>A (p.Phe150Leu)
n.1772-542A>T
c.975T>A (p.Phe325Leu)
c.483T>A (p.Phe161Leu)
2g.27366883A=CA1240244543EIF2B4,GTF3C2-AS2c.1067T= (p.Phe356=)
c.*333T= (n.*333T=)
c.641T=
c.1064T= (p.Phe355=)
c.1127T= (p.Phe376=)
n.2968T=
c.1130T= (p.Phe377=)
c.1058T= (p.Phe353=)
c.1022T= (p.Phe341=)
c.1019T= (p.Phe340=)
c.449T= (p.Phe150=)
n.1772-541A=
c.974T= (p.Phe325=)
c.482T= (p.Phe161=)
2g.27366883A>CCA346198066EIF2B4,GTF3C2-AS2c.1067T>G (p.Phe356Cys)
c.*333T>G (n.*333T>G)
c.641T>G
c.1064T>G (p.Phe355Cys)
c.1127T>G (p.Phe376Cys)
n.2968T>G
c.1130T>G (p.Phe377Cys)
c.1058T>G (p.Phe353Cys)
c.1022T>G (p.Phe341Cys)
c.1019T>G (p.Phe340Cys)
c.449T>G (p.Phe150Cys)
n.1772-541A>C
c.974T>G (p.Phe325Cys)
c.482T>G (p.Phe161Cys)
 dbSNP gnomAD v4
2g.27366883A>GCA346198067EIF2B4,GTF3C2-AS2c.1067T>C (p.Phe356Ser)
c.*333T>C (n.*333T>C)
c.641T>C
c.1064T>C (p.Phe355Ser)
c.1127T>C (p.Phe376Ser)
n.2968T>C
c.1130T>C (p.Phe377Ser)
c.1058T>C (p.Phe353Ser)
c.1022T>C (p.Phe341Ser)
c.1019T>C (p.Phe340Ser)
c.449T>C (p.Phe150Ser)
n.1772-541A>G
c.974T>C (p.Phe325Ser)
c.482T>C (p.Phe161Ser)
2g.27366883A>TCA346198070EIF2B4,GTF3C2-AS2c.1067T>A (p.Phe356Tyr)
c.*333T>A (n.*333T>A)
c.641T>A
c.1064T>A (p.Phe355Tyr)
c.1127T>A (p.Phe376Tyr)
n.2968T>A
c.1130T>A (p.Phe377Tyr)
c.1058T>A (p.Phe353Tyr)
c.1022T>A (p.Phe341Tyr)
c.1019T>A (p.Phe340Tyr)
c.449T>A (p.Phe150Tyr)
n.1772-541A>T
c.974T>A (p.Phe325Tyr)
c.482T>A (p.Phe161Tyr)
2g.27366883_27366884insCCA2749265050EIF2B4,GTF3C2-AS2c.1066_1067insG (p.Phe356CysfsTer?)
c.*332_*333insG (n.*332_*333insG)
c.640_641insG
c.1063_1064insG (p.Phe355CysfsTer?)
c.1126_1127insG (p.Phe376CysfsTer?)
n.2967_2968insG
c.1129_1130insG (p.Phe377CysfsTer?)
c.1057_1058insG (p.Phe353CysfsTer?)
c.1021_1022insG (p.Phe341CysfsTer?)
c.1018_1019insG (p.Phe340CysfsTer?)
c.448_449insG (p.Phe150CysfsTer?)
n.1772-541_1772-540insC
c.973_974insG (p.Phe325CysfsTer?)
c.481_482insG (p.Phe161CysfsTer?)
2g.27366883_27366884insCACCA2749265051EIF2B4,GTF3C2-AS2c.1066_1067insGTG (p.Phe356delinsCysVal)
c.*332_*333insGTG (n.*332_*333insGTG)
c.640_641insGTG
c.1063_1064insGTG (p.Phe355delinsCysVal)
c.1126_1127insGTG (p.Phe376delinsCysVal)
n.2967_2968insGTG
c.1129_1130insGTG (p.Phe377delinsCysVal)
c.1057_1058insGTG (p.Phe353delinsCysVal)
c.1021_1022insGTG (p.Phe341delinsCysVal)
c.1018_1019insGTG (p.Phe340delinsCysVal)
c.448_449insGTG (p.Phe150delinsCysVal)
n.1772-541_1772-540insCAC
c.973_974insGTG (p.Phe325delinsCysVal)
c.481_482insGTG (p.Phe161delinsCysVal)
2g.27366884A=CA1240244547EIF2B4,GTF3C2-AS2c.1066T= (p.Phe356=)
c.*332T= (n.*332T=)
c.640T=
c.1063T= (p.Phe355=)
c.1126T= (p.Phe376=)
n.2967T=
c.1129T= (p.Phe377=)
c.1057T= (p.Phe353=)
c.1021T= (p.Phe341=)
c.1018T= (p.Phe340=)
c.448T= (p.Phe150=)
n.1772-540A=
c.973T= (p.Phe325=)
c.481T= (p.Phe161=)
2g.27366884A>CCA346198071EIF2B4,GTF3C2-AS2c.1066T>G (p.Phe356Val)
c.*332T>G (n.*332T>G)
c.640T>G
c.1063T>G (p.Phe355Val)
c.1126T>G (p.Phe376Val)
n.2967T>G
c.1129T>G (p.Phe377Val)
c.1057T>G (p.Phe353Val)
c.1021T>G (p.Phe341Val)
c.1018T>G (p.Phe340Val)
c.448T>G (p.Phe150Val)
n.1772-540A>C
c.973T>G (p.Phe325Val)
c.481T>G (p.Phe161Val)
 dbSNP gnomAD v4
2g.27366884A>GCA346198073EIF2B4,GTF3C2-AS2c.1066T>C (p.Phe356Leu)
c.*332T>C (n.*332T>C)
c.640T>C
c.1063T>C (p.Phe355Leu)
c.1126T>C (p.Phe376Leu)
n.2967T>C
c.1129T>C (p.Phe377Leu)
c.1057T>C (p.Phe353Leu)
c.1021T>C (p.Phe341Leu)
c.1018T>C (p.Phe340Leu)
c.448T>C (p.Phe150Leu)
n.1772-540A>G
c.973T>C (p.Phe325Leu)
c.481T>C (p.Phe161Leu)
2g.27366884A>TCA346198076EIF2B4,GTF3C2-AS2c.1066T>A (p.Phe356Ile)
c.*332T>A (n.*332T>A)
c.640T>A
c.1063T>A (p.Phe355Ile)
c.1126T>A (p.Phe376Ile)
n.2967T>A
c.1129T>A (p.Phe377Ile)
c.1057T>A (p.Phe353Ile)
c.1021T>A (p.Phe341Ile)
c.1018T>A (p.Phe340Ile)
c.448T>A (p.Phe150Ile)
n.1772-540A>T
c.973T>A (p.Phe325Ile)
c.481T>A (p.Phe161Ile)
2g.27366885C>ACA425606787EIF2B4,GTF3C2-AS2c.1065G>T (p.Arg355=)
c.*331G>T (n.*331G>T)
c.639G>T
c.1062G>T (p.Arg354=)
c.1125G>T (p.Arg375=)
n.2966G>T
c.1128G>T (p.Arg376=)
c.1056G>T (p.Arg352=)
c.1020G>T (p.Arg340=)
c.1017G>T (p.Arg339=)
c.447G>T (p.Arg149=)
n.1772-539C>A
c.972G>T (p.Arg324=)
c.480G>T (p.Arg160=)
2g.27366885C>GCA425606788EIF2B4,GTF3C2-AS2c.1065G>C (p.Arg355=)
c.*331G>C (n.*331G>C)
c.639G>C
c.1062G>C (p.Arg354=)
c.1125G>C (p.Arg375=)
n.2966G>C
c.1128G>C (p.Arg376=)
c.1056G>C (p.Arg352=)
c.1020G>C (p.Arg340=)
c.1017G>C (p.Arg339=)
c.447G>C (p.Arg149=)
n.1772-539C>G
c.972G>C (p.Arg324=)
c.480G>C (p.Arg160=)
2g.27366885C>TCA425606789EIF2B4,GTF3C2-AS2c.1065G>A (p.Arg355=)
c.*331G>A (n.*331G>A)
c.639G>A
c.1062G>A (p.Arg354=)
c.1125G>A (p.Arg375=)
n.2966G>A
c.1128G>A (p.Arg376=)
c.1056G>A (p.Arg352=)
c.1020G>A (p.Arg340=)
c.1017G>A (p.Arg339=)
c.447G>A (p.Arg149=)
n.1772-539C>T
c.972G>A (p.Arg324=)
c.480G>A (p.Arg160=)
2g.27366886C>ACA346198081EIF2B4,GTF3C2-AS2c.1064G>T (p.Arg355Leu)
c.*330G>T (n.*330G>T)
c.638G>T
c.1061G>T (p.Arg354Leu)
c.1124G>T (p.Arg375Leu)
n.2965G>T
c.1127G>T (p.Arg376Leu)
c.1055G>T (p.Arg352Leu)
c.1019G>T (p.Arg340Leu)
c.1016G>T (p.Arg339Leu)
c.446G>T (p.Arg149Leu)
n.1772-538C>A
c.971G>T (p.Arg324Leu)
c.479G>T (p.Arg160Leu)
2g.27366886C=CA1240244551EIF2B4,GTF3C2-AS2c.1064G= (p.Arg355=)
c.*330G= (n.*330G=)
c.638G=
c.1061G= (p.Arg354=)
c.1124G= (p.Arg375=)
n.2965G=
c.1127G= (p.Arg376=)
c.1055G= (p.Arg352=)
c.1019G= (p.Arg340=)
c.1016G= (p.Arg339=)
c.446G= (p.Arg149=)
n.1772-538C=
c.971G= (p.Arg324=)
c.479G= (p.Arg160=)
2g.27366886C>GCA346198078EIF2B4,GTF3C2-AS2c.1064G>C (p.Arg355Pro)
c.*330G>C (n.*330G>C)
c.638G>C
c.1061G>C (p.Arg354Pro)
c.1124G>C (p.Arg375Pro)
n.2965G>C
c.1127G>C (p.Arg376Pro)
c.1055G>C (p.Arg352Pro)
c.1019G>C (p.Arg340Pro)
c.1016G>C (p.Arg339Pro)
c.446G>C (p.Arg149Pro)
n.1772-538C>G
c.971G>C (p.Arg324Pro)
c.479G>C (p.Arg160Pro)
2g.27366886C>TCA346198080EIF2B4,GTF3C2-AS2c.1064G>A (p.Arg355Gln)
c.*330G>A (n.*330G>A)
c.638G>A
c.1061G>A (p.Arg354Gln)
c.1124G>A (p.Arg375Gln)
n.2965G>A
c.1127G>A (p.Arg376Gln)
c.1055G>A (p.Arg352Gln)
c.1019G>A (p.Arg340Gln)
c.1016G>A (p.Arg339Gln)
c.446G>A (p.Arg149Gln)
n.1772-538C>T
c.971G>A (p.Arg324Gln)
c.479G>A (p.Arg160Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27366887G>ACA44511508EIF2B4,GTF3C2-AS2c.1063C>T (p.Arg355Trp)
c.*329C>T (n.*329C>T)
c.637C>T
c.1060C>T (p.Arg354Trp)
c.1123C>T (p.Arg375Trp)
n.2964C>T
c.1126C>T (p.Arg376Trp)
c.1054C>T (p.Arg352Trp)
c.1018C>T (p.Arg340Trp)
c.1015C>T (p.Arg339Trp)
c.445C>T (p.Arg149Trp)
n.1772-537G>A
c.970C>T (p.Arg324Trp)
c.478C>T (p.Arg160Trp)
 dbSNP gnomAD v4
2g.27366887G>CCA346198083EIF2B4,GTF3C2-AS2c.1063C>G (p.Arg355Gly)
c.*329C>G (n.*329C>G)
c.637C>G
c.1060C>G (p.Arg354Gly)
c.1123C>G (p.Arg375Gly)
n.2964C>G
c.1126C>G (p.Arg376Gly)
c.1054C>G (p.Arg352Gly)
c.1018C>G (p.Arg340Gly)
c.1015C>G (p.Arg339Gly)
c.445C>G (p.Arg149Gly)
n.1772-537G>C
c.970C>G (p.Arg324Gly)
c.478C>G (p.Arg160Gly)
2g.27366887G=CA1240244555EIF2B4,GTF3C2-AS2c.1063C= (p.Arg355=)
c.*329C= (n.*329C=)
c.637C=
c.1060C= (p.Arg354=)
c.1123C= (p.Arg375=)
n.2964C=
c.1126C= (p.Arg376=)
c.1054C= (p.Arg352=)
c.1018C= (p.Arg340=)
c.1015C= (p.Arg339=)
c.445C= (p.Arg149=)
n.1772-537G=
c.970C= (p.Arg324=)
c.478C= (p.Arg160=)
2g.27366887G>TCA425606792EIF2B4,GTF3C2-AS2c.1063C>A (p.Arg355=)
c.*329C>A (n.*329C>A)
c.637C>A
c.1060C>A (p.Arg354=)
c.1123C>A (p.Arg375=)
n.2964C>A
c.1126C>A (p.Arg376=)
c.1054C>A (p.Arg352=)
c.1018C>A (p.Arg340=)
c.1015C>A (p.Arg339=)
c.445C>A (p.Arg149=)
n.1772-537G>T
c.970C>A (p.Arg324=)
c.478C>A (p.Arg160=)
2g.27366888C>ACA425606794EIF2B4,GTF3C2-AS2c.1062G>T (p.Arg354=)
c.*328G>T (n.*328G>T)
c.636G>T
c.1059G>T (p.Arg353=)
c.1122G>T (p.Arg374=)
n.2963G>T
c.1125G>T (p.Arg375=)
c.1053G>T (p.Arg351=)
c.1017G>T (p.Arg339=)
c.1014G>T (p.Arg338=)
c.444G>T (p.Arg148=)
n.1772-536C>A
c.969G>T (p.Arg323=)
c.477G>T (p.Arg159=)
2g.27366888C>GCA425606795EIF2B4,GTF3C2-AS2c.1062G>C (p.Arg354=)
c.*328G>C (n.*328G>C)
c.636G>C
c.1059G>C (p.Arg353=)
c.1122G>C (p.Arg374=)
n.2963G>C
c.1125G>C (p.Arg375=)
c.1053G>C (p.Arg351=)
c.1017G>C (p.Arg339=)
c.1014G>C (p.Arg338=)
c.444G>C (p.Arg148=)
n.1772-536C>G
c.969G>C (p.Arg323=)
c.477G>C (p.Arg159=)
2g.27366888C>TCA425606798EIF2B4,GTF3C2-AS2c.1062G>A (p.Arg354=)
c.*328G>A (n.*328G>A)
c.636G>A
c.1059G>A (p.Arg353=)
c.1122G>A (p.Arg374=)
n.2963G>A
c.1125G>A (p.Arg375=)
c.1053G>A (p.Arg351=)
c.1017G>A (p.Arg339=)
c.1014G>A (p.Arg338=)
c.444G>A (p.Arg148=)
n.1772-536C>T
c.969G>A (p.Arg323=)
c.477G>A (p.Arg159=)
2g.27366889C>ACA346198085EIF2B4,GTF3C2-AS2c.1061G>T (p.Arg354Leu)
c.*327G>T (n.*327G>T)
c.635G>T
c.1058G>T (p.Arg353Leu)
c.1121G>T (p.Arg374Leu)
n.2962G>T
c.1124G>T (p.Arg375Leu)
c.1052G>T (p.Arg351Leu)
c.1016G>T (p.Arg339Leu)
c.1013G>T (p.Arg338Leu)
c.443G>T (p.Arg148Leu)
n.1772-535C>A
c.968G>T (p.Arg323Leu)
c.476G>T (p.Arg159Leu)
2g.27366889C=CA1240244558EIF2B4,GTF3C2-AS2c.1061G= (p.Arg354=)
c.*327G= (n.*327G=)
c.635G=
c.1058G= (p.Arg353=)
c.1121G= (p.Arg374=)
n.2962G=
c.1124G= (p.Arg375=)
c.1052G= (p.Arg351=)
c.1016G= (p.Arg339=)
c.1013G= (p.Arg338=)
c.443G= (p.Arg148=)
n.1772-535C=
c.968G= (p.Arg323=)
c.476G= (p.Arg159=)
2g.27366889C>GCA346198087EIF2B4,GTF3C2-AS2c.1061G>C (p.Arg354Pro)
c.*327G>C (n.*327G>C)
c.635G>C
c.1058G>C (p.Arg353Pro)
c.1121G>C (p.Arg374Pro)
n.2962G>C
c.1124G>C (p.Arg375Pro)
c.1052G>C (p.Arg351Pro)
c.1016G>C (p.Arg339Pro)
c.1013G>C (p.Arg338Pro)
c.443G>C (p.Arg148Pro)
n.1772-535C>G
c.968G>C (p.Arg323Pro)
c.476G>C (p.Arg159Pro)
2g.27366889C>TCA1576664EIF2B4,GTF3C2-AS2c.1061G>A (p.Arg354Gln)
c.*327G>A (n.*327G>A)
c.635G>A
c.1058G>A (p.Arg353Gln)
c.1121G>A (p.Arg374Gln)
n.2962G>A
c.1124G>A (p.Arg375Gln)
c.1052G>A (p.Arg351Gln)
c.1016G>A (p.Arg339Gln)
c.1013G>A (p.Arg338Gln)
c.443G>A (p.Arg148Gln)
n.1772-535C>T
c.968G>A (p.Arg323Gln)
c.476G>A (p.Arg159Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27366890G>ACA1576665EIF2B4,GTF3C2-AS2c.1060C>T (p.Arg354Trp)
c.*326C>T (n.*326C>T)
c.634C>T
c.1057C>T (p.Arg353Trp)
c.1120C>T (p.Arg374Trp)
n.2961C>T
c.1123C>T (p.Arg375Trp)
c.1051C>T (p.Arg351Trp)
c.1015C>T (p.Arg339Trp)
c.1012C>T (p.Arg338Trp)
c.442C>T (p.Arg148Trp)
n.1772-534G>A
c.967C>T (p.Arg323Trp)
c.475C>T (p.Arg159Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27366890G>CCA346198091EIF2B4,GTF3C2-AS2c.1060C>G (p.Arg354Gly)
c.*326C>G (n.*326C>G)
c.634C>G
c.1057C>G (p.Arg353Gly)
c.1120C>G (p.Arg374Gly)
n.2961C>G
c.1123C>G (p.Arg375Gly)
c.1051C>G (p.Arg351Gly)
c.1015C>G (p.Arg339Gly)
c.1012C>G (p.Arg338Gly)
c.442C>G (p.Arg148Gly)
n.1772-534G>C
c.967C>G (p.Arg323Gly)
c.475C>G (p.Arg159Gly)
2g.27366890G=CA1240244564EIF2B4,GTF3C2-AS2c.1060C= (p.Arg354=)
c.*326C= (n.*326C=)
c.634C=
c.1057C= (p.Arg353=)
c.1120C= (p.Arg374=)
n.2961C=
c.1123C= (p.Arg375=)
c.1051C= (p.Arg351=)
c.1015C= (p.Arg339=)
c.1012C= (p.Arg338=)
c.442C= (p.Arg148=)
n.1772-534G=
c.967C= (p.Arg323=)
c.475C= (p.Arg159=)
2g.27366890G>TCA1576666EIF2B4,GTF3C2-AS2c.1060C>A (p.Arg354=)
c.*326C>A (n.*326C>A)
c.634C>A
c.1057C>A (p.Arg353=)
c.1120C>A (p.Arg374=)
n.2961C>A
c.1123C>A (p.Arg375=)
c.1051C>A (p.Arg351=)
c.1015C>A (p.Arg339=)
c.1012C>A (p.Arg338=)
c.442C>A (p.Arg148=)
n.1772-534G>T
c.967C>A (p.Arg323=)
c.475C>A (p.Arg159=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.27366891G>ACA425606803EIF2B4,GTF3C2-AS2c.1059C>T (p.Gly353=)
c.*325C>T (n.*325C>T)
c.633C>T
c.1056C>T (p.Gly352=)
c.1119C>T (p.Gly373=)
n.2960C>T
c.1122C>T (p.Gly374=)
c.1050C>T (p.Gly350=)
c.1014C>T (p.Gly338=)
c.1011C>T (p.Gly337=)
c.441C>T (p.Gly147=)
n.1772-533G>A
c.966C>T (p.Gly322=)
c.474C>T (p.Gly158=)
 gnomAD v4
2g.27366891G>CCA425606805EIF2B4,GTF3C2-AS2c.1059C>G (p.Gly353=)
c.*325C>G (n.*325C>G)
c.633C>G
c.1056C>G (p.Gly352=)
c.1119C>G (p.Gly373=)
n.2960C>G
c.1122C>G (p.Gly374=)
c.1050C>G (p.Gly350=)
c.1014C>G (p.Gly338=)
c.1011C>G (p.Gly337=)
c.441C>G (p.Gly147=)
n.1772-533G>C
c.966C>G (p.Gly322=)
c.474C>G (p.Gly158=)
2g.27366891G>TCA425606806EIF2B4,GTF3C2-AS2c.1059C>A (p.Gly353=)
c.*325C>A (n.*325C>A)
c.633C>A
c.1056C>A (p.Gly352=)
c.1119C>A (p.Gly373=)
n.2960C>A
c.1122C>A (p.Gly374=)
c.1050C>A (p.Gly350=)
c.1014C>A (p.Gly338=)
c.1011C>A (p.Gly337=)
c.441C>A (p.Gly147=)
n.1772-533G>T
c.966C>A (p.Gly322=)
c.474C>A (p.Gly158=)
2g.27366892C>ACA346198093EIF2B4,GTF3C2-AS2c.1058G>T (p.Gly353Val)
c.*324G>T (n.*324G>T)
c.632G>T
c.1055G>T (p.Gly352Val)
c.1118G>T (p.Gly373Val)
n.2959G>T
c.1121G>T (p.Gly374Val)
c.1049G>T (p.Gly350Val)
c.1013G>T (p.Gly338Val)
c.1010G>T (p.Gly337Val)
c.440G>T (p.Gly147Val)
n.1772-532C>A
c.965G>T (p.Gly322Val)
c.473G>T (p.Gly158Val)
2g.27366892C>GCA346198094EIF2B4,GTF3C2-AS2c.1058G>C (p.Gly353Ala)
c.*324G>C (n.*324G>C)
c.632G>C
c.1055G>C (p.Gly352Ala)
c.1118G>C (p.Gly373Ala)
n.2959G>C
c.1121G>C (p.Gly374Ala)
c.1049G>C (p.Gly350Ala)
c.1013G>C (p.Gly338Ala)
c.1010G>C (p.Gly337Ala)
c.440G>C (p.Gly147Ala)
n.1772-532C>G
c.965G>C (p.Gly322Ala)
c.473G>C (p.Gly158Ala)
2g.27366892C>TCA346198095EIF2B4,GTF3C2-AS2c.1058G>A (p.Gly353Asp)
c.*324G>A (n.*324G>A)
c.632G>A
c.1055G>A (p.Gly352Asp)
c.1118G>A (p.Gly373Asp)
n.2959G>A
c.1121G>A (p.Gly374Asp)
c.1049G>A (p.Gly350Asp)
c.1013G>A (p.Gly338Asp)
c.1010G>A (p.Gly337Asp)
c.440G>A (p.Gly147Asp)
n.1772-532C>T
c.965G>A (p.Gly322Asp)
c.473G>A (p.Gly158Asp)
2g.27366893C>ACA346198098EIF2B4,GTF3C2-AS2c.1057G>T (p.Gly353Cys)
c.*323G>T (n.*323G>T)
c.631G>T
c.1054G>T (p.Gly352Cys)
c.1117G>T (p.Gly373Cys)
n.2958G>T
c.1120G>T (p.Gly374Cys)
c.1048G>T (p.Gly350Cys)
c.1012G>T (p.Gly338Cys)
c.1009G>T (p.Gly337Cys)
c.439G>T (p.Gly147Cys)
n.1772-531C>A
c.964G>T (p.Gly322Cys)
c.472G>T (p.Gly158Cys)
2g.27366893C=CA1240244566EIF2B4,GTF3C2-AS2c.1057G= (p.Gly353=)
c.*323G= (n.*323G=)
c.631G=
c.1054G= (p.Gly352=)
c.1117G= (p.Gly373=)
n.2958G=
c.1120G= (p.Gly374=)
c.1048G= (p.Gly350=)
c.1012G= (p.Gly338=)
c.1009G= (p.Gly337=)
c.439G= (p.Gly147=)
n.1772-531C=
c.964G= (p.Gly322=)
c.472G= (p.Gly158=)
2g.27366893C>GCA346198099EIF2B4,GTF3C2-AS2c.1057G>C (p.Gly353Arg)
c.*323G>C (n.*323G>C)
c.631G>C
c.1054G>C (p.Gly352Arg)
c.1117G>C (p.Gly373Arg)
n.2958G>C
c.1120G>C (p.Gly374Arg)
c.1048G>C (p.Gly350Arg)
c.1012G>C (p.Gly338Arg)
c.1009G>C (p.Gly337Arg)
c.439G>C (p.Gly147Arg)
n.1772-531C>G
c.964G>C (p.Gly322Arg)
c.472G>C (p.Gly158Arg)

Number of alleles fetched