Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27364434G>ACA346196430EIF2B4,GTF3C2-AS2c.1538C>T (p.Pro513Leu)
c.*804C>T (n.*804C>T)
c.1535C>T (p.Pro512Leu)
c.1598C>T (p.Pro533Leu)
n.531C>T
c.1601C>T (p.Pro534Leu)
c.1529C>T (p.Pro510Leu)
c.1493C>T (p.Pro498Leu)
c.1490C>T (p.Pro497Leu)
c.920C>T (p.Pro307Leu)
n.1772-2990G>A
c.1445C>T (p.Pro482Leu)
c.953C>T (p.Pro318Leu)
2g.27364434G>CCA346196428EIF2B4,GTF3C2-AS2c.1538C>G (p.Pro513Arg)
c.*804C>G (n.*804C>G)
c.1535C>G (p.Pro512Arg)
c.1598C>G (p.Pro533Arg)
n.531C>G
c.1601C>G (p.Pro534Arg)
c.1529C>G (p.Pro510Arg)
c.1493C>G (p.Pro498Arg)
c.1490C>G (p.Pro497Arg)
c.920C>G (p.Pro307Arg)
n.1772-2990G>C
c.1445C>G (p.Pro482Arg)
c.953C>G (p.Pro318Arg)
2g.27364434G>TCA346196427EIF2B4,GTF3C2-AS2c.1538C>A (p.Pro513His)
c.*804C>A (n.*804C>A)
c.1535C>A (p.Pro512His)
c.1598C>A (p.Pro533His)
n.531C>A
c.1601C>A (p.Pro534His)
c.1529C>A (p.Pro510His)
c.1493C>A (p.Pro498His)
c.1490C>A (p.Pro497His)
c.920C>A (p.Pro307His)
n.1772-2990G>T
c.1445C>A (p.Pro482His)
c.953C>A (p.Pro318His)
2g.27364435delCA2658336131EIF2B4,GTF3C2-AS2c.1538del (p.Pro513LeufsTer?)
c.*804del (n.*804del)
c.1535del (p.Pro512LeufsTer?)
c.1598del (p.Pro533LeufsTer?)
n.531del
c.1601del (p.Pro534LeufsTer?)
c.1529del (p.Pro510LeufsTer?)
c.1493del (p.Pro498LeufsTer?)
c.1490del (p.Pro497LeufsTer?)
c.920del (p.Pro307LeufsTer?)
n.1772-2989del
c.1445del (p.Pro482LeufsTer?)
c.953del (p.Pro318LeufsTer?)
 gnomAD v4
2g.27364435G>ACA346196432EIF2B4,GTF3C2-AS2c.1537C>T (p.Pro513Ser)
c.*803C>T (n.*803C>T)
c.1534C>T (p.Pro512Ser)
c.1597C>T (p.Pro533Ser)
n.530C>T
c.1600C>T (p.Pro534Ser)
c.1528C>T (p.Pro510Ser)
c.1492C>T (p.Pro498Ser)
c.1489C>T (p.Pro497Ser)
c.919C>T (p.Pro307Ser)
n.1772-2989G>A
c.1444C>T (p.Pro482Ser)
c.952C>T (p.Pro318Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.27364435G>CCA346196435EIF2B4,GTF3C2-AS2c.1537C>G (p.Pro513Ala)
c.*803C>G (n.*803C>G)
c.1534C>G (p.Pro512Ala)
c.1597C>G (p.Pro533Ala)
n.530C>G
c.1600C>G (p.Pro534Ala)
c.1528C>G (p.Pro510Ala)
c.1492C>G (p.Pro498Ala)
c.1489C>G (p.Pro497Ala)
c.919C>G (p.Pro307Ala)
n.1772-2989G>C
c.1444C>G (p.Pro482Ala)
c.952C>G (p.Pro318Ala)
2g.27364435G=CA1240242782EIF2B4,GTF3C2-AS2c.1537C= (p.Pro513=)
c.*803C= (n.*803C=)
c.1534C= (p.Pro512=)
c.1597C= (p.Pro533=)
n.530C=
c.1600C= (p.Pro534=)
c.1528C= (p.Pro510=)
c.1492C= (p.Pro498=)
c.1489C= (p.Pro497=)
c.919C= (p.Pro307=)
n.1772-2989G=
c.1444C= (p.Pro482=)
c.952C= (p.Pro318=)
2g.27364435G>TCA346196434EIF2B4,GTF3C2-AS2c.1537C>A (p.Pro513Thr)
c.*803C>A (n.*803C>A)
c.1534C>A (p.Pro512Thr)
c.1597C>A (p.Pro533Thr)
n.530C>A
c.1600C>A (p.Pro534Thr)
c.1528C>A (p.Pro510Thr)
c.1492C>A (p.Pro498Thr)
c.1489C>A (p.Pro497Thr)
c.919C>A (p.Pro307Thr)
n.1772-2989G>T
c.1444C>A (p.Pro482Thr)
c.952C>A (p.Pro318Thr)
 gnomAD v4
2g.27364436T>ACA425409694EIF2B4,GTF3C2-AS2c.1536A>T (p.Val512=)
c.*802A>T (n.*802A>T)
c.1533A>T (p.Val511=)
c.1596A>T (p.Val532=)
n.529A>T
c.1599A>T (p.Val533=)
c.1527A>T (p.Val509=)
c.1491A>T (p.Val497=)
c.1488A>T (p.Val496=)
c.918A>T (p.Val306=)
n.1772-2988T>A
c.1443A>T (p.Val481=)
c.951A>T (p.Val317=)
2g.27364436T>CCA425409695EIF2B4,GTF3C2-AS2c.1536A>G (p.Val512=)
c.*802A>G (n.*802A>G)
c.1533A>G (p.Val511=)
c.1596A>G (p.Val532=)
n.529A>G
c.1599A>G (p.Val533=)
c.1527A>G (p.Val509=)
c.1491A>G (p.Val497=)
c.1488A>G (p.Val496=)
c.918A>G (p.Val306=)
n.1772-2988T>C
c.1443A>G (p.Val481=)
c.951A>G (p.Val317=)
 ClinVar
2g.27364436T>GCA425409696EIF2B4,GTF3C2-AS2c.1536A>C (p.Val512=)
c.*802A>C (n.*802A>C)
c.1533A>C (p.Val511=)
c.1596A>C (p.Val532=)
n.529A>C
c.1599A>C (p.Val533=)
c.1527A>C (p.Val509=)
c.1491A>C (p.Val497=)
c.1488A>C (p.Val496=)
c.918A>C (p.Val306=)
n.1772-2988T>G
c.1443A>C (p.Val481=)
c.951A>C (p.Val317=)
 gnomAD v4
2g.27364437A>CCA346196437EIF2B4,GTF3C2-AS2c.1535T>G (p.Val512Gly)
c.*801T>G (n.*801T>G)
c.1532T>G (p.Val511Gly)
c.1595T>G (p.Val532Gly)
n.528T>G
c.1598T>G (p.Val533Gly)
c.1526T>G (p.Val509Gly)
c.1490T>G (p.Val497Gly)
c.1487T>G (p.Val496Gly)
c.917T>G (p.Val306Gly)
n.1772-2987A>C
c.1442T>G (p.Val481Gly)
c.950T>G (p.Val317Gly)
2g.27364437A>GCA346196439EIF2B4,GTF3C2-AS2c.1535T>C (p.Val512Ala)
c.*801T>C (n.*801T>C)
c.1532T>C (p.Val511Ala)
c.1595T>C (p.Val532Ala)
n.528T>C
c.1598T>C (p.Val533Ala)
c.1526T>C (p.Val509Ala)
c.1490T>C (p.Val497Ala)
c.1487T>C (p.Val496Ala)
c.917T>C (p.Val306Ala)
n.1772-2987A>G
c.1442T>C (p.Val481Ala)
c.950T>C (p.Val317Ala)
2g.27364437A>TCA346196441EIF2B4,GTF3C2-AS2c.1535T>A (p.Val512Glu)
c.*801T>A (n.*801T>A)
c.1532T>A (p.Val511Glu)
c.1595T>A (p.Val532Glu)
n.528T>A
c.1598T>A (p.Val533Glu)
c.1526T>A (p.Val509Glu)
c.1490T>A (p.Val497Glu)
c.1487T>A (p.Val496Glu)
c.917T>A (p.Val306Glu)
n.1772-2987A>T
c.1442T>A (p.Val481Glu)
c.950T>A (p.Val317Glu)
2g.27364438C>ACA346196443EIF2B4,GTF3C2-AS2c.1534G>T (p.Val512Leu)
c.*800G>T (n.*800G>T)
c.1531G>T (p.Val511Leu)
c.1594G>T (p.Val532Leu)
n.527G>T
c.1597G>T (p.Val533Leu)
c.1525G>T (p.Val509Leu)
c.1489G>T (p.Val497Leu)
c.1486G>T (p.Val496Leu)
c.916G>T (p.Val306Leu)
n.1772-2986C>A
c.1441G>T (p.Val481Leu)
c.949G>T (p.Val317Leu)
2g.27364438C>GCA346196444EIF2B4,GTF3C2-AS2c.1534G>C (p.Val512Leu)
c.*800G>C (n.*800G>C)
c.1531G>C (p.Val511Leu)
c.1594G>C (p.Val532Leu)
n.527G>C
c.1597G>C (p.Val533Leu)
c.1525G>C (p.Val509Leu)
c.1489G>C (p.Val497Leu)
c.1486G>C (p.Val496Leu)
c.916G>C (p.Val306Leu)
n.1772-2986C>G
c.1441G>C (p.Val481Leu)
c.949G>C (p.Val317Leu)
2g.27364438C>TCA346196445EIF2B4,GTF3C2-AS2c.1534G>A (p.Val512Ile)
c.*800G>A (n.*800G>A)
c.1531G>A (p.Val511Ile)
c.1594G>A (p.Val532Ile)
n.527G>A
c.1597G>A (p.Val533Ile)
c.1525G>A (p.Val509Ile)
c.1489G>A (p.Val497Ile)
c.1486G>A (p.Val496Ile)
c.916G>A (p.Val306Ile)
n.1772-2986C>T
c.1441G>A (p.Val481Ile)
c.949G>A (p.Val317Ile)
 gnomAD v4
2g.27364439A=CA1240242783EIF2B4,GTF3C2-AS2c.1533T= (p.Ser511=)
c.*799T= (n.*799T=)
c.1530T= (p.Ser510=)
c.1593T= (p.Ser531=)
n.526T=
c.1596T= (p.Ser532=)
c.1524T= (p.Ser508=)
c.1488T= (p.Ser496=)
c.1485T= (p.Ser495=)
c.915T= (p.Ser305=)
n.1772-2985A=
c.1440T= (p.Ser480=)
c.948T= (p.Ser316=)
2g.27364439A>CCA425409701EIF2B4,GTF3C2-AS2c.1533T>G (p.Ser511=)
c.*799T>G (n.*799T>G)
c.1530T>G (p.Ser510=)
c.1593T>G (p.Ser531=)
n.526T>G
c.1596T>G (p.Ser532=)
c.1524T>G (p.Ser508=)
c.1488T>G (p.Ser496=)
c.1485T>G (p.Ser495=)
c.915T>G (p.Ser305=)
n.1772-2985A>C
c.1440T>G (p.Ser480=)
c.948T>G (p.Ser316=)
2g.27364439A>GCA1576556EIF2B4,GTF3C2-AS2c.1533T>C (p.Ser511=)
c.*799T>C (n.*799T>C)
c.1530T>C (p.Ser510=)
c.1593T>C (p.Ser531=)
n.526T>C
c.1596T>C (p.Ser532=)
c.1524T>C (p.Ser508=)
c.1488T>C (p.Ser496=)
c.1485T>C (p.Ser495=)
c.915T>C (p.Ser305=)
n.1772-2985A>G
c.1440T>C (p.Ser480=)
c.948T>C (p.Ser316=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364439A>TCA425409704EIF2B4,GTF3C2-AS2c.1533T>A (p.Ser511=)
c.*799T>A (n.*799T>A)
c.1530T>A (p.Ser510=)
c.1593T>A (p.Ser531=)
n.526T>A
c.1596T>A (p.Ser532=)
c.1524T>A (p.Ser508=)
c.1488T>A (p.Ser496=)
c.1485T>A (p.Ser495=)
c.915T>A (p.Ser305=)
n.1772-2985A>T
c.1440T>A (p.Ser480=)
c.948T>A (p.Ser316=)
2g.27364440G>ACA346196446EIF2B4,GTF3C2-AS2c.1532C>T (p.Ser511Phe)
c.*798C>T (n.*798C>T)
c.1529C>T (p.Ser510Phe)
c.1592C>T (p.Ser531Phe)
n.525C>T
c.1595C>T (p.Ser532Phe)
c.1523C>T (p.Ser508Phe)
c.1487C>T (p.Ser496Phe)
c.1484C>T (p.Ser495Phe)
c.914C>T (p.Ser305Phe)
n.1772-2984G>A
c.1439C>T (p.Ser480Phe)
c.947C>T (p.Ser316Phe)
2g.27364440G>CCA346196447EIF2B4,GTF3C2-AS2c.1532C>G (p.Ser511Cys)
c.*798C>G (n.*798C>G)
c.1529C>G (p.Ser510Cys)
c.1592C>G (p.Ser531Cys)
n.525C>G
c.1595C>G (p.Ser532Cys)
c.1523C>G (p.Ser508Cys)
c.1487C>G (p.Ser496Cys)
c.1484C>G (p.Ser495Cys)
c.914C>G (p.Ser305Cys)
n.1772-2984G>C
c.1439C>G (p.Ser480Cys)
c.947C>G (p.Ser316Cys)
2g.27364440G>TCA346196448EIF2B4,GTF3C2-AS2c.1532C>A (p.Ser511Tyr)
c.*798C>A (n.*798C>A)
c.1529C>A (p.Ser510Tyr)
c.1592C>A (p.Ser531Tyr)
n.525C>A
c.1595C>A (p.Ser532Tyr)
c.1523C>A (p.Ser508Tyr)
c.1487C>A (p.Ser496Tyr)
c.1484C>A (p.Ser495Tyr)
c.914C>A (p.Ser305Tyr)
n.1772-2984G>T
c.1439C>A (p.Ser480Tyr)
c.947C>A (p.Ser316Tyr)
2g.27364441A>CCA346196450EIF2B4,GTF3C2-AS2c.1531T>G (p.Ser511Ala)
c.*797T>G (n.*797T>G)
c.1528T>G (p.Ser510Ala)
c.1591T>G (p.Ser531Ala)
n.524T>G
c.1594T>G (p.Ser532Ala)
c.1522T>G (p.Ser508Ala)
c.1486T>G (p.Ser496Ala)
c.1483T>G (p.Ser495Ala)
c.913T>G (p.Ser305Ala)
n.1772-2983A>C
c.1438T>G (p.Ser480Ala)
c.946T>G (p.Ser316Ala)
2g.27364441A>GCA346196451EIF2B4,GTF3C2-AS2c.1531T>C (p.Ser511Pro)
c.*797T>C (n.*797T>C)
c.1528T>C (p.Ser510Pro)
c.1591T>C (p.Ser531Pro)
n.524T>C
c.1594T>C (p.Ser532Pro)
c.1522T>C (p.Ser508Pro)
c.1486T>C (p.Ser496Pro)
c.1483T>C (p.Ser495Pro)
c.913T>C (p.Ser305Pro)
n.1772-2983A>G
c.1438T>C (p.Ser480Pro)
c.946T>C (p.Ser316Pro)
2g.27364441A>TCA346196453EIF2B4,GTF3C2-AS2c.1531T>A (p.Ser511Thr)
c.*797T>A (n.*797T>A)
c.1528T>A (p.Ser510Thr)
c.1591T>A (p.Ser531Thr)
n.524T>A
c.1594T>A (p.Ser532Thr)
c.1522T>A (p.Ser508Thr)
c.1486T>A (p.Ser496Thr)
c.1483T>A (p.Ser495Thr)
c.913T>A (p.Ser305Thr)
n.1772-2983A>T
c.1438T>A (p.Ser480Thr)
c.946T>A (p.Ser316Thr)
2g.27364442A>CCA346196454EIF2B4,GTF3C2-AS2c.1530T>G (p.Ser510Arg)
c.*796T>G (n.*796T>G)
c.1527T>G (p.Ser509Arg)
c.1590T>G (p.Ser530Arg)
n.523T>G
c.1593T>G (p.Ser531Arg)
c.1521T>G (p.Ser507Arg)
c.1485T>G (p.Ser495Arg)
c.1482T>G (p.Ser494Arg)
c.912T>G (p.Ser304Arg)
n.1772-2982A>C
c.1437T>G (p.Ser479Arg)
c.945T>G (p.Ser315Arg)
2g.27364442A>GCA425409706EIF2B4,GTF3C2-AS2c.1530T>C (p.Ser510=)
c.*796T>C (n.*796T>C)
c.1527T>C (p.Ser509=)
c.1590T>C (p.Ser530=)
n.523T>C
c.1593T>C (p.Ser531=)
c.1521T>C (p.Ser507=)
c.1485T>C (p.Ser495=)
c.1482T>C (p.Ser494=)
c.912T>C (p.Ser304=)
n.1772-2982A>G
c.1437T>C (p.Ser479=)
c.945T>C (p.Ser315=)
2g.27364442A>TCA346196455EIF2B4,GTF3C2-AS2c.1530T>A (p.Ser510Arg)
c.*796T>A (n.*796T>A)
c.1527T>A (p.Ser509Arg)
c.1590T>A (p.Ser530Arg)
n.523T>A
c.1593T>A (p.Ser531Arg)
c.1521T>A (p.Ser507Arg)
c.1485T>A (p.Ser495Arg)
c.1482T>A (p.Ser494Arg)
c.912T>A (p.Ser304Arg)
n.1772-2982A>T
c.1437T>A (p.Ser479Arg)
c.945T>A (p.Ser315Arg)
2g.27364443C>ACA346196456EIF2B4,GTF3C2-AS2c.1529G>T (p.Ser510Ile)
c.*795G>T (n.*795G>T)
c.1526G>T (p.Ser509Ile)
c.1589G>T (p.Ser530Ile)
n.522G>T
c.1592G>T (p.Ser531Ile)
c.1520G>T (p.Ser507Ile)
c.1484G>T (p.Ser495Ile)
c.1481G>T (p.Ser494Ile)
c.911G>T (p.Ser304Ile)
n.1772-2981C>A
c.1436G>T (p.Ser479Ile)
c.944G>T (p.Ser315Ile)
2g.27364443C>GCA346196457EIF2B4,GTF3C2-AS2c.1529G>C (p.Ser510Thr)
c.*795G>C (n.*795G>C)
c.1526G>C (p.Ser509Thr)
c.1589G>C (p.Ser530Thr)
n.522G>C
c.1592G>C (p.Ser531Thr)
c.1520G>C (p.Ser507Thr)
c.1484G>C (p.Ser495Thr)
c.1481G>C (p.Ser494Thr)
c.911G>C (p.Ser304Thr)
n.1772-2981C>G
c.1436G>C (p.Ser479Thr)
c.944G>C (p.Ser315Thr)
2g.27364443C>TCA346196459EIF2B4,GTF3C2-AS2c.1529G>A (p.Ser510Asn)
c.*795G>A (n.*795G>A)
c.1526G>A (p.Ser509Asn)
c.1589G>A (p.Ser530Asn)
n.522G>A
c.1592G>A (p.Ser531Asn)
c.1520G>A (p.Ser507Asn)
c.1484G>A (p.Ser495Asn)
c.1481G>A (p.Ser494Asn)
c.911G>A (p.Ser304Asn)
n.1772-2981C>T
c.1436G>A (p.Ser479Asn)
c.944G>A (p.Ser315Asn)
2g.27364444T>ACA346196460EIF2B4,GTF3C2-AS2c.1528A>T (p.Ser510Cys)
c.*794A>T (n.*794A>T)
c.1525A>T (p.Ser509Cys)
c.1588A>T (p.Ser530Cys)
n.521A>T
c.1591A>T (p.Ser531Cys)
c.1519A>T (p.Ser507Cys)
c.1483A>T (p.Ser495Cys)
c.1480A>T (p.Ser494Cys)
c.910A>T (p.Ser304Cys)
n.1772-2980T>A
c.1435A>T (p.Ser479Cys)
c.943A>T (p.Ser315Cys)
2g.27364444T>CCA346196461EIF2B4,GTF3C2-AS2c.1528A>G (p.Ser510Gly)
c.*794A>G (n.*794A>G)
c.1525A>G (p.Ser509Gly)
c.1588A>G (p.Ser530Gly)
n.521A>G
c.1591A>G (p.Ser531Gly)
c.1519A>G (p.Ser507Gly)
c.1483A>G (p.Ser495Gly)
c.1480A>G (p.Ser494Gly)
c.910A>G (p.Ser304Gly)
n.1772-2980T>C
c.1435A>G (p.Ser479Gly)
c.943A>G (p.Ser315Gly)
2g.27364444T>GCA346196462EIF2B4,GTF3C2-AS2c.1528A>C (p.Ser510Arg)
c.*794A>C (n.*794A>C)
c.1525A>C (p.Ser509Arg)
c.1588A>C (p.Ser530Arg)
n.521A>C
c.1591A>C (p.Ser531Arg)
c.1519A>C (p.Ser507Arg)
c.1483A>C (p.Ser495Arg)
c.1480A>C (p.Ser494Arg)
c.910A>C (p.Ser304Arg)
n.1772-2980T>G
c.1435A>C (p.Ser479Arg)
c.943A>C (p.Ser315Arg)
2g.27364445G>ACA425409707EIF2B4,GTF3C2-AS2c.1527C>T (p.Cys509=)
c.*793C>T (n.*793C>T)
c.1524C>T (p.Cys508=)
c.1587C>T (p.Cys529=)
n.520C>T
c.1590C>T (p.Cys530=)
c.1518C>T (p.Cys506=)
c.1482C>T (p.Cys494=)
c.1479C>T (p.Cys493=)
c.909C>T (p.Cys303=)
n.1772-2979G>A
c.1434C>T (p.Cys478=)
c.942C>T (p.Cys314=)
 gnomAD v4
2g.27364445G>CCA346196468EIF2B4,GTF3C2-AS2c.1527C>G (p.Cys509Trp)
c.*793C>G (n.*793C>G)
c.1524C>G (p.Cys508Trp)
c.1587C>G (p.Cys529Trp)
n.520C>G
c.1590C>G (p.Cys530Trp)
c.1518C>G (p.Cys506Trp)
c.1482C>G (p.Cys494Trp)
c.1479C>G (p.Cys493Trp)
c.909C>G (p.Cys303Trp)
n.1772-2979G>C
c.1434C>G (p.Cys478Trp)
c.942C>G (p.Cys314Trp)
 gnomAD v4
2g.27364445G>TCA346196469EIF2B4,GTF3C2-AS2c.1527C>A (p.Cys509Ter)
c.*793C>A (n.*793C>A)
c.1524C>A (p.Cys508Ter)
c.1587C>A (p.Cys529Ter)
n.520C>A
c.1590C>A (p.Cys530Ter)
c.1518C>A (p.Cys506Ter)
c.1482C>A (p.Cys494Ter)
c.1479C>A (p.Cys493Ter)
c.909C>A (p.Cys303Ter)
n.1772-2979G>T
c.1434C>A (p.Cys478Ter)
c.942C>A (p.Cys314Ter)
2g.27364446C>ACA346196472EIF2B4,GTF3C2-AS2c.1526G>T (p.Cys509Phe)
c.*792G>T (n.*792G>T)
c.1523G>T (p.Cys508Phe)
c.1586G>T (p.Cys529Phe)
n.519G>T
c.1589G>T (p.Cys530Phe)
c.1517G>T (p.Cys506Phe)
c.1481G>T (p.Cys494Phe)
c.1478G>T (p.Cys493Phe)
c.908G>T (p.Cys303Phe)
n.1772-2978C>A
c.1433G>T (p.Cys478Phe)
c.941G>T (p.Cys314Phe)
2g.27364446C>GCA346196473EIF2B4,GTF3C2-AS2c.1526G>C (p.Cys509Ser)
c.*792G>C (n.*792G>C)
c.1523G>C (p.Cys508Ser)
c.1586G>C (p.Cys529Ser)
n.519G>C
c.1589G>C (p.Cys530Ser)
c.1517G>C (p.Cys506Ser)
c.1481G>C (p.Cys494Ser)
c.1478G>C (p.Cys493Ser)
c.908G>C (p.Cys303Ser)
n.1772-2978C>G
c.1433G>C (p.Cys478Ser)
c.941G>C (p.Cys314Ser)
2g.27364446C>TCA346196475EIF2B4,GTF3C2-AS2c.1526G>A (p.Cys509Tyr)
c.*792G>A (n.*792G>A)
c.1523G>A (p.Cys508Tyr)
c.1586G>A (p.Cys529Tyr)
n.519G>A
c.1589G>A (p.Cys530Tyr)
c.1517G>A (p.Cys506Tyr)
c.1481G>A (p.Cys494Tyr)
c.1478G>A (p.Cys493Tyr)
c.908G>A (p.Cys303Tyr)
n.1772-2978C>T
c.1433G>A (p.Cys478Tyr)
c.941G>A (p.Cys314Tyr)
2g.27364447A>CCA346196480EIF2B4,GTF3C2-AS2c.1525T>G (p.Cys509Gly)
c.*791T>G (n.*791T>G)
c.1522T>G (p.Cys508Gly)
c.1585T>G (p.Cys529Gly)
n.518T>G
c.1588T>G (p.Cys530Gly)
c.1516T>G (p.Cys506Gly)
c.1480T>G (p.Cys494Gly)
c.1477T>G (p.Cys493Gly)
c.907T>G (p.Cys303Gly)
n.1772-2977A>C
c.1432T>G (p.Cys478Gly)
c.940T>G (p.Cys314Gly)
2g.27364447A>GCA346196479EIF2B4,GTF3C2-AS2c.1525T>C (p.Cys509Arg)
c.*791T>C (n.*791T>C)
c.1522T>C (p.Cys508Arg)
c.1585T>C (p.Cys529Arg)
n.518T>C
c.1588T>C (p.Cys530Arg)
c.1516T>C (p.Cys506Arg)
c.1480T>C (p.Cys494Arg)
c.1477T>C (p.Cys493Arg)
c.907T>C (p.Cys303Arg)
n.1772-2977A>G
c.1432T>C (p.Cys478Arg)
c.940T>C (p.Cys314Arg)
2g.27364447A>TCA346196477EIF2B4,GTF3C2-AS2c.1525T>A (p.Cys509Ser)
c.*791T>A (n.*791T>A)
c.1522T>A (p.Cys508Ser)
c.1585T>A (p.Cys529Ser)
n.518T>A
c.1588T>A (p.Cys530Ser)
c.1516T>A (p.Cys506Ser)
c.1480T>A (p.Cys494Ser)
c.1477T>A (p.Cys493Ser)
c.907T>A (p.Cys303Ser)
n.1772-2977A>T
c.1432T>A (p.Cys478Ser)
c.940T>A (p.Cys314Ser)
2g.27364448A>CCA425409711EIF2B4,GTF3C2-AS2c.1524T>G (p.Pro508=)
c.*790T>G (n.*790T>G)
c.1521T>G (p.Pro507=)
c.1584T>G (p.Pro528=)
n.517T>G
c.1587T>G (p.Pro529=)
c.1515T>G (p.Pro505=)
c.1479T>G (p.Pro493=)
c.1476T>G (p.Pro492=)
c.906T>G (p.Pro302=)
n.1772-2976A>C
c.1431T>G (p.Pro477=)
c.939T>G (p.Pro313=)
2g.27364448A>GCA425409712EIF2B4,GTF3C2-AS2c.1524T>C (p.Pro508=)
c.*790T>C (n.*790T>C)
c.1521T>C (p.Pro507=)
c.1584T>C (p.Pro528=)
n.517T>C
c.1587T>C (p.Pro529=)
c.1515T>C (p.Pro505=)
c.1479T>C (p.Pro493=)
c.1476T>C (p.Pro492=)
c.906T>C (p.Pro302=)
n.1772-2976A>G
c.1431T>C (p.Pro477=)
c.939T>C (p.Pro313=)
 gnomAD v4
2g.27364448A>TCA425409713EIF2B4,GTF3C2-AS2c.1524T>A (p.Pro508=)
c.*790T>A (n.*790T>A)
c.1521T>A (p.Pro507=)
c.1584T>A (p.Pro528=)
n.517T>A
c.1587T>A (p.Pro529=)
c.1515T>A (p.Pro505=)
c.1479T>A (p.Pro493=)
c.1476T>A (p.Pro492=)
c.906T>A (p.Pro302=)
n.1772-2976A>T
c.1431T>A (p.Pro477=)
c.939T>A (p.Pro313=)
2g.27364449G>ACA346196481EIF2B4,GTF3C2-AS2c.1523C>T (p.Pro508Leu)
c.*789C>T (n.*789C>T)
c.1520C>T (p.Pro507Leu)
c.1583C>T (p.Pro528Leu)
n.516C>T
c.1586C>T (p.Pro529Leu)
c.1514C>T (p.Pro505Leu)
c.1478C>T (p.Pro493Leu)
c.1475C>T (p.Pro492Leu)
c.905C>T (p.Pro302Leu)
n.1772-2975G>A
c.1430C>T (p.Pro477Leu)
c.938C>T (p.Pro313Leu)
 gnomAD v4
2g.27364449G>CCA346196483EIF2B4,GTF3C2-AS2c.1523C>G (p.Pro508Arg)
c.*789C>G (n.*789C>G)
c.1520C>G (p.Pro507Arg)
c.1583C>G (p.Pro528Arg)
n.516C>G
c.1586C>G (p.Pro529Arg)
c.1514C>G (p.Pro505Arg)
c.1478C>G (p.Pro493Arg)
c.1475C>G (p.Pro492Arg)
c.905C>G (p.Pro302Arg)
n.1772-2975G>C
c.1430C>G (p.Pro477Arg)
c.938C>G (p.Pro313Arg)
2g.27364449G>TCA346196484EIF2B4,GTF3C2-AS2c.1523C>A (p.Pro508His)
c.*789C>A (n.*789C>A)
c.1520C>A (p.Pro507His)
c.1583C>A (p.Pro528His)
n.516C>A
c.1586C>A (p.Pro529His)
c.1514C>A (p.Pro505His)
c.1478C>A (p.Pro493His)
c.1475C>A (p.Pro492His)
c.905C>A (p.Pro302His)
n.1772-2975G>T
c.1430C>A (p.Pro477His)
c.938C>A (p.Pro313His)
2g.27364450G>ACA346196485EIF2B4,GTF3C2-AS2c.1522C>T (p.Pro508Ser)
c.*788C>T (n.*788C>T)
c.1519C>T (p.Pro507Ser)
c.1582C>T (p.Pro528Ser)
n.515C>T
c.1585C>T (p.Pro529Ser)
c.1513C>T (p.Pro505Ser)
c.1477C>T (p.Pro493Ser)
c.1474C>T (p.Pro492Ser)
c.904C>T (p.Pro302Ser)
n.1772-2974G>A
c.1429C>T (p.Pro477Ser)
c.937C>T (p.Pro313Ser)
2g.27364450G>CCA346196487EIF2B4,GTF3C2-AS2c.1522C>G (p.Pro508Ala)
c.*788C>G (n.*788C>G)
c.1519C>G (p.Pro507Ala)
c.1582C>G (p.Pro528Ala)
n.515C>G
c.1585C>G (p.Pro529Ala)
c.1513C>G (p.Pro505Ala)
c.1477C>G (p.Pro493Ala)
c.1474C>G (p.Pro492Ala)
c.904C>G (p.Pro302Ala)
n.1772-2974G>C
c.1429C>G (p.Pro477Ala)
c.937C>G (p.Pro313Ala)
2g.27364450G>TCA346196489EIF2B4,GTF3C2-AS2c.1522C>A (p.Pro508Thr)
c.*788C>A (n.*788C>A)
c.1519C>A (p.Pro507Thr)
c.1582C>A (p.Pro528Thr)
n.515C>A
c.1585C>A (p.Pro529Thr)
c.1513C>A (p.Pro505Thr)
c.1477C>A (p.Pro493Thr)
c.1474C>A (p.Pro492Thr)
c.904C>A (p.Pro302Thr)
n.1772-2974G>T
c.1429C>A (p.Pro477Thr)
c.937C>A (p.Pro313Thr)
2g.27364451G>ACA425409715EIF2B4,GTF3C2-AS2c.1521C>T (p.Ile507=)
c.*787C>T (n.*787C>T)
c.1518C>T (p.Ile506=)
c.1581C>T (p.Ile527=)
n.514C>T
c.1584C>T (p.Ile528=)
c.1512C>T (p.Ile504=)
c.1476C>T (p.Ile492=)
c.1473C>T (p.Ile491=)
c.903C>T (p.Ile301=)
n.1772-2973G>A
c.1428C>T (p.Ile476=)
c.936C>T (p.Ile312=)
2g.27364451G>CCA346196491EIF2B4,GTF3C2-AS2c.1521C>G (p.Ile507Met)
c.*787C>G (n.*787C>G)
c.1518C>G (p.Ile506Met)
c.1581C>G (p.Ile527Met)
n.514C>G
c.1584C>G (p.Ile528Met)
c.1512C>G (p.Ile504Met)
c.1476C>G (p.Ile492Met)
c.1473C>G (p.Ile491Met)
c.903C>G (p.Ile301Met)
n.1772-2973G>C
c.1428C>G (p.Ile476Met)
c.936C>G (p.Ile312Met)
 dbSNP gnomAD v3 gnomAD v4
2g.27364451G=CA1240242784EIF2B4,GTF3C2-AS2c.1521C= (p.Ile507=)
c.*787C= (n.*787C=)
c.1518C= (p.Ile506=)
c.1581C= (p.Ile527=)
n.514C=
c.1584C= (p.Ile528=)
c.1512C= (p.Ile504=)
c.1476C= (p.Ile492=)
c.1473C= (p.Ile491=)
c.903C= (p.Ile301=)
n.1772-2973G=
c.1428C= (p.Ile476=)
c.936C= (p.Ile312=)
2g.27364451G>TCA425409717EIF2B4,GTF3C2-AS2c.1521C>A (p.Ile507=)
c.*787C>A (n.*787C>A)
c.1518C>A (p.Ile506=)
c.1581C>A (p.Ile527=)
n.514C>A
c.1584C>A (p.Ile528=)
c.1512C>A (p.Ile504=)
c.1476C>A (p.Ile492=)
c.1473C>A (p.Ile491=)
c.903C>A (p.Ile301=)
n.1772-2973G>T
c.1428C>A (p.Ile476=)
c.936C>A (p.Ile312=)
2g.27364452A>CCA346196492EIF2B4,GTF3C2-AS2c.1520T>G (p.Ile507Ser)
c.*786T>G (n.*786T>G)
c.1517T>G (p.Ile506Ser)
c.1580T>G (p.Ile527Ser)
n.513T>G
c.1583T>G (p.Ile528Ser)
c.1511T>G (p.Ile504Ser)
c.1475T>G (p.Ile492Ser)
c.1472T>G (p.Ile491Ser)
c.902T>G (p.Ile301Ser)
n.1772-2972A>C
c.1427T>G (p.Ile476Ser)
c.935T>G (p.Ile312Ser)
2g.27364452A>GCA346196493EIF2B4,GTF3C2-AS2c.1520T>C (p.Ile507Thr)
c.*786T>C (n.*786T>C)
c.1517T>C (p.Ile506Thr)
c.1580T>C (p.Ile527Thr)
n.513T>C
c.1583T>C (p.Ile528Thr)
c.1511T>C (p.Ile504Thr)
c.1475T>C (p.Ile492Thr)
c.1472T>C (p.Ile491Thr)
c.902T>C (p.Ile301Thr)
n.1772-2972A>G
c.1427T>C (p.Ile476Thr)
c.935T>C (p.Ile312Thr)
2g.27364452A>TCA346196494EIF2B4,GTF3C2-AS2c.1520T>A (p.Ile507Asn)
c.*786T>A (n.*786T>A)
c.1517T>A (p.Ile506Asn)
c.1580T>A (p.Ile527Asn)
n.513T>A
c.1583T>A (p.Ile528Asn)
c.1511T>A (p.Ile504Asn)
c.1475T>A (p.Ile492Asn)
c.1472T>A (p.Ile491Asn)
c.902T>A (p.Ile301Asn)
n.1772-2972A>T
c.1427T>A (p.Ile476Asn)
c.935T>A (p.Ile312Asn)
2g.27364453T>ACA346196495EIF2B4,GTF3C2-AS2c.1519A>T (p.Ile507Phe)
c.*785A>T (n.*785A>T)
c.1516A>T (p.Ile506Phe)
c.1579A>T (p.Ile527Phe)
n.512A>T
c.1582A>T (p.Ile528Phe)
c.1510A>T (p.Ile504Phe)
c.1474A>T (p.Ile492Phe)
c.1471A>T (p.Ile491Phe)
c.901A>T (p.Ile301Phe)
n.1772-2971T>A
c.1426A>T (p.Ile476Phe)
c.934A>T (p.Ile312Phe)
2g.27364453T>CCA346196496EIF2B4,GTF3C2-AS2c.1519A>G (p.Ile507Val)
c.*785A>G (n.*785A>G)
c.1516A>G (p.Ile506Val)
c.1579A>G (p.Ile527Val)
n.512A>G
c.1582A>G (p.Ile528Val)
c.1510A>G (p.Ile504Val)
c.1474A>G (p.Ile492Val)
c.1471A>G (p.Ile491Val)
c.901A>G (p.Ile301Val)
n.1772-2971T>C
c.1426A>G (p.Ile476Val)
c.934A>G (p.Ile312Val)
2g.27364453T>GCA346196498EIF2B4,GTF3C2-AS2c.1519A>C (p.Ile507Leu)
c.*785A>C (n.*785A>C)
c.1516A>C (p.Ile506Leu)
c.1579A>C (p.Ile527Leu)
n.512A>C
c.1582A>C (p.Ile528Leu)
c.1510A>C (p.Ile504Leu)
c.1474A>C (p.Ile492Leu)
c.1471A>C (p.Ile491Leu)
c.901A>C (p.Ile301Leu)
n.1772-2971T>G
c.1426A>C (p.Ile476Leu)
c.934A>C (p.Ile312Leu)
2g.27364454C>ACA346196502EIF2B4,GTF3C2-AS2c.1518G>T (p.Met506Ile)
c.*784G>T (n.*784G>T)
c.1515G>T (p.Met505Ile)
c.1578G>T (p.Met526Ile)
n.511G>T
c.1581G>T (p.Met527Ile)
c.1509G>T (p.Met503Ile)
c.1473G>T (p.Met491Ile)
c.1470G>T (p.Met490Ile)
c.900G>T (p.Met300Ile)
n.1772-2970C>A
c.1425G>T (p.Met475Ile)
c.933G>T (p.Met311Ile)
2g.27364454C>GCA346196500EIF2B4,GTF3C2-AS2c.1518G>C (p.Met506Ile)
c.*784G>C (n.*784G>C)
c.1515G>C (p.Met505Ile)
c.1578G>C (p.Met526Ile)
n.511G>C
c.1581G>C (p.Met527Ile)
c.1509G>C (p.Met503Ile)
c.1473G>C (p.Met491Ile)
c.1470G>C (p.Met490Ile)
c.900G>C (p.Met300Ile)
n.1772-2970C>G
c.1425G>C (p.Met475Ile)
c.933G>C (p.Met311Ile)
2g.27364454C>TCA346196501EIF2B4,GTF3C2-AS2c.1518G>A (p.Met506Ile)
c.*784G>A (n.*784G>A)
c.1515G>A (p.Met505Ile)
c.1578G>A (p.Met526Ile)
n.511G>A
c.1581G>A (p.Met527Ile)
c.1509G>A (p.Met503Ile)
c.1473G>A (p.Met491Ile)
c.1470G>A (p.Met490Ile)
c.900G>A (p.Met300Ile)
n.1772-2970C>T
c.1425G>A (p.Met475Ile)
c.933G>A (p.Met311Ile)
2g.27364455A>CCA346196505EIF2B4,GTF3C2-AS2c.1517T>G (p.Met506Arg)
c.*783T>G (n.*783T>G)
c.1514T>G (p.Met505Arg)
c.1577T>G (p.Met526Arg)
n.510T>G
c.1580T>G (p.Met527Arg)
c.1508T>G (p.Met503Arg)
c.1472T>G (p.Met491Arg)
c.1469T>G (p.Met490Arg)
c.899T>G (p.Met300Arg)
n.1772-2969A>C
c.1424T>G (p.Met475Arg)
c.932T>G (p.Met311Arg)
2g.27364455A>GCA346196507EIF2B4,GTF3C2-AS2c.1517T>C (p.Met506Thr)
c.*783T>C (n.*783T>C)
c.1514T>C (p.Met505Thr)
c.1577T>C (p.Met526Thr)
n.510T>C
c.1580T>C (p.Met527Thr)
c.1508T>C (p.Met503Thr)
c.1472T>C (p.Met491Thr)
c.1469T>C (p.Met490Thr)
c.899T>C (p.Met300Thr)
n.1772-2969A>G
c.1424T>C (p.Met475Thr)
c.932T>C (p.Met311Thr)
2g.27364455A>TCA346196508EIF2B4,GTF3C2-AS2c.1517T>A (p.Met506Lys)
c.*783T>A (n.*783T>A)
c.1514T>A (p.Met505Lys)
c.1577T>A (p.Met526Lys)
n.510T>A
c.1580T>A (p.Met527Lys)
c.1508T>A (p.Met503Lys)
c.1472T>A (p.Met491Lys)
c.1469T>A (p.Met490Lys)
c.899T>A (p.Met300Lys)
n.1772-2969A>T
c.1424T>A (p.Met475Lys)
c.932T>A (p.Met311Lys)
2g.27364456T>ACA346196509EIF2B4,GTF3C2-AS2c.1516A>T (p.Met506Leu)
c.*782A>T (n.*782A>T)
c.1513A>T (p.Met505Leu)
c.1576A>T (p.Met526Leu)
n.509A>T
c.1579A>T (p.Met527Leu)
c.1507A>T (p.Met503Leu)
c.1471A>T (p.Met491Leu)
c.1468A>T (p.Met490Leu)
c.898A>T (p.Met300Leu)
n.1772-2968T>A
c.1423A>T (p.Met475Leu)
c.931A>T (p.Met311Leu)
2g.27364456T>CCA346196511EIF2B4,GTF3C2-AS2c.1516A>G (p.Met506Val)
c.*782A>G (n.*782A>G)
c.1513A>G (p.Met505Val)
c.1576A>G (p.Met526Val)
n.509A>G
c.1579A>G (p.Met527Val)
c.1507A>G (p.Met503Val)
c.1471A>G (p.Met491Val)
c.1468A>G (p.Met490Val)
c.898A>G (p.Met300Val)
n.1772-2968T>C
c.1423A>G (p.Met475Val)
c.931A>G (p.Met311Val)
2g.27364456T>GCA346196512EIF2B4,GTF3C2-AS2c.1516A>C (p.Met506Leu)
c.*782A>C (n.*782A>C)
c.1513A>C (p.Met505Leu)
c.1576A>C (p.Met526Leu)
n.509A>C
c.1579A>C (p.Met527Leu)
c.1507A>C (p.Met503Leu)
c.1471A>C (p.Met491Leu)
c.1468A>C (p.Met490Leu)
c.898A>C (p.Met300Leu)
n.1772-2968T>G
c.1423A>C (p.Met475Leu)
c.931A>C (p.Met311Leu)
2g.27364457C>ACA425409721EIF2B4,GTF3C2-AS2c.1515G>T (p.Gly505=)
c.*781G>T (n.*781G>T)
c.1512G>T (p.Gly504=)
c.1575G>T (p.Gly525=)
n.508G>T
c.1578G>T (p.Gly526=)
c.1506G>T (p.Gly502=)
c.1470G>T (p.Gly490=)
c.1467G>T (p.Gly489=)
c.897G>T (p.Gly299=)
n.1772-2967C>A
c.1422G>T (p.Gly474=)
c.930G>T (p.Gly310=)
2g.27364457C>GCA425409723EIF2B4,GTF3C2-AS2c.1515G>C (p.Gly505=)
c.*781G>C (n.*781G>C)
c.1512G>C (p.Gly504=)
c.1575G>C (p.Gly525=)
n.508G>C
c.1578G>C (p.Gly526=)
c.1506G>C (p.Gly502=)
c.1470G>C (p.Gly490=)
c.1467G>C (p.Gly489=)
c.897G>C (p.Gly299=)
n.1772-2967C>G
c.1422G>C (p.Gly474=)
c.930G>C (p.Gly310=)
2g.27364457C>TCA425409724EIF2B4,GTF3C2-AS2c.1515G>A (p.Gly505=)
c.*781G>A (n.*781G>A)
c.1512G>A (p.Gly504=)
c.1575G>A (p.Gly525=)
n.508G>A
c.1578G>A (p.Gly526=)
c.1506G>A (p.Gly502=)
c.1470G>A (p.Gly490=)
c.1467G>A (p.Gly489=)
c.897G>A (p.Gly299=)
n.1772-2967C>T
c.1422G>A (p.Gly474=)
c.930G>A (p.Gly310=)
2g.27364458C>ACA346196514EIF2B4,GTF3C2-AS2c.1514G>T (p.Gly505Val)
c.*780G>T (n.*780G>T)
c.1511G>T (p.Gly504Val)
c.1574G>T (p.Gly525Val)
n.507G>T
c.1577G>T (p.Gly526Val)
c.1505G>T (p.Gly502Val)
c.1469G>T (p.Gly490Val)
c.1466G>T (p.Gly489Val)
c.896G>T (p.Gly299Val)
n.1772-2966C>A
c.1421G>T (p.Gly474Val)
c.929G>T (p.Gly310Val)
2g.27364458C=CA1240242785EIF2B4,GTF3C2-AS2c.1514G= (p.Gly505=)
c.*780G= (n.*780G=)
c.1511G= (p.Gly504=)
c.1574G= (p.Gly525=)
n.507G=
c.1577G= (p.Gly526=)
c.1505G= (p.Gly502=)
c.1469G= (p.Gly490=)
c.1466G= (p.Gly489=)
c.896G= (p.Gly299=)
n.1772-2966C=
c.1421G= (p.Gly474=)
c.929G= (p.Gly310=)
2g.27364458C>GCA346196515EIF2B4,GTF3C2-AS2c.1514G>C (p.Gly505Ala)
c.*780G>C (n.*780G>C)
c.1511G>C (p.Gly504Ala)
c.1574G>C (p.Gly525Ala)
n.507G>C
c.1577G>C (p.Gly526Ala)
c.1505G>C (p.Gly502Ala)
c.1469G>C (p.Gly490Ala)
c.1466G>C (p.Gly489Ala)
c.896G>C (p.Gly299Ala)
n.1772-2966C>G
c.1421G>C (p.Gly474Ala)
c.929G>C (p.Gly310Ala)
2g.27364458C>TCA346196516EIF2B4,GTF3C2-AS2c.1514G>A (p.Gly505Glu)
c.*780G>A (n.*780G>A)
c.1511G>A (p.Gly504Glu)
c.1574G>A (p.Gly525Glu)
n.507G>A
c.1577G>A (p.Gly526Glu)
c.1505G>A (p.Gly502Glu)
c.1469G>A (p.Gly490Glu)
c.1466G>A (p.Gly489Glu)
c.896G>A (p.Gly299Glu)
n.1772-2966C>T
c.1421G>A (p.Gly474Glu)
c.929G>A (p.Gly310Glu)
 dbSNP gnomAD v2
2g.27364459C>ACA346196519EIF2B4,GTF3C2-AS2c.1513G>T (p.Gly505Trp)
c.*779G>T (n.*779G>T)
c.1510G>T (p.Gly504Trp)
c.1573G>T (p.Gly525Trp)
n.506G>T
c.1576G>T (p.Gly526Trp)
c.1504G>T (p.Gly502Trp)
c.1468G>T (p.Gly490Trp)
c.1465G>T (p.Gly489Trp)
c.895G>T (p.Gly299Trp)
n.1772-2965C>A
c.1420G>T (p.Gly474Trp)
c.928G>T (p.Gly310Trp)
2g.27364459C=CA1240242786EIF2B4,GTF3C2-AS2c.1513G= (p.Gly505=)
c.*779G= (n.*779G=)
c.1510G= (p.Gly504=)
c.1573G= (p.Gly525=)
n.506G=
c.1576G= (p.Gly526=)
c.1504G= (p.Gly502=)
c.1468G= (p.Gly490=)
c.1465G= (p.Gly489=)
c.895G= (p.Gly299=)
n.1772-2965C=
c.1420G= (p.Gly474=)
c.928G= (p.Gly310=)
2g.27364459C>GCA346196520EIF2B4,GTF3C2-AS2c.1513G>C (p.Gly505Arg)
c.*779G>C (n.*779G>C)
c.1510G>C (p.Gly504Arg)
c.1573G>C (p.Gly525Arg)
n.506G>C
c.1576G>C (p.Gly526Arg)
c.1504G>C (p.Gly502Arg)
c.1468G>C (p.Gly490Arg)
c.1465G>C (p.Gly489Arg)
c.895G>C (p.Gly299Arg)
n.1772-2965C>G
c.1420G>C (p.Gly474Arg)
c.928G>C (p.Gly310Arg)
 dbSNP
2g.27364459C>TCA346196522EIF2B4,GTF3C2-AS2c.1513G>A (p.Gly505Arg)
c.*779G>A (n.*779G>A)
c.1510G>A (p.Gly504Arg)
c.1573G>A (p.Gly525Arg)
n.506G>A
c.1576G>A (p.Gly526Arg)
c.1504G>A (p.Gly502Arg)
c.1468G>A (p.Gly490Arg)
c.1465G>A (p.Gly489Arg)
c.895G>A (p.Gly299Arg)
n.1772-2965C>T
c.1420G>A (p.Gly474Arg)
c.928G>A (p.Gly310Arg)
2g.27364460C>ACA425409727EIF2B4,GTF3C2-AS2c.1512G>T (p.Leu504=)
c.*778G>T (n.*778G>T)
c.1509G>T (p.Leu503=)
c.1572G>T (p.Leu524=)
n.505G>T
c.1575G>T (p.Leu525=)
c.1503G>T (p.Leu501=)
c.1467G>T (p.Leu489=)
c.1464G>T (p.Leu488=)
c.894G>T (p.Leu298=)
n.1772-2964C>A
c.1419G>T (p.Leu473=)
c.927G>T (p.Leu309=)
2g.27364460C>GCA425409725EIF2B4,GTF3C2-AS2c.1512G>C (p.Leu504=)
c.*778G>C (n.*778G>C)
c.1509G>C (p.Leu503=)
c.1572G>C (p.Leu524=)
n.505G>C
c.1575G>C (p.Leu525=)
c.1503G>C (p.Leu501=)
c.1467G>C (p.Leu489=)
c.1464G>C (p.Leu488=)
c.894G>C (p.Leu298=)
n.1772-2964C>G
c.1419G>C (p.Leu473=)
c.927G>C (p.Leu309=)
2g.27364460C>TCA425409728EIF2B4,GTF3C2-AS2c.1512G>A (p.Leu504=)
c.*778G>A (n.*778G>A)
c.1509G>A (p.Leu503=)
c.1572G>A (p.Leu524=)
n.505G>A
c.1575G>A (p.Leu525=)
c.1503G>A (p.Leu501=)
c.1467G>A (p.Leu489=)
c.1464G>A (p.Leu488=)
c.894G>A (p.Leu298=)
n.1772-2964C>T
c.1419G>A (p.Leu473=)
c.927G>A (p.Leu309=)
2g.27364461A>CCA346196523EIF2B4,GTF3C2-AS2c.1511T>G (p.Leu504Arg)
c.*777T>G (n.*777T>G)
c.1508T>G (p.Leu503Arg)
c.1571T>G (p.Leu524Arg)
n.504T>G
c.1574T>G (p.Leu525Arg)
c.1502T>G (p.Leu501Arg)
c.1466T>G (p.Leu489Arg)
c.1463T>G (p.Leu488Arg)
c.893T>G (p.Leu298Arg)
n.1772-2963A>C
c.1418T>G (p.Leu473Arg)
c.926T>G (p.Leu309Arg)
2g.27364461A>GCA346196525EIF2B4,GTF3C2-AS2c.1511T>C (p.Leu504Pro)
c.*777T>C (n.*777T>C)
c.1508T>C (p.Leu503Pro)
c.1571T>C (p.Leu524Pro)
n.504T>C
c.1574T>C (p.Leu525Pro)
c.1502T>C (p.Leu501Pro)
c.1466T>C (p.Leu489Pro)
c.1463T>C (p.Leu488Pro)
c.893T>C (p.Leu298Pro)
n.1772-2963A>G
c.1418T>C (p.Leu473Pro)
c.926T>C (p.Leu309Pro)
2g.27364461A>TCA346196524EIF2B4,GTF3C2-AS2c.1511T>A (p.Leu504Gln)
c.*777T>A (n.*777T>A)
c.1508T>A (p.Leu503Gln)
c.1571T>A (p.Leu524Gln)
n.504T>A
c.1574T>A (p.Leu525Gln)
c.1502T>A (p.Leu501Gln)
c.1466T>A (p.Leu489Gln)
c.1463T>A (p.Leu488Gln)
c.893T>A (p.Leu298Gln)
n.1772-2963A>T
c.1418T>A (p.Leu473Gln)
c.926T>A (p.Leu309Gln)
2g.27364462G>ACA425409729EIF2B4,GTF3C2-AS2c.1510C>T (p.Leu504=)
c.*776C>T (n.*776C>T)
c.1507C>T (p.Leu503=)
c.1570C>T (p.Leu524=)
n.503C>T
c.1573C>T (p.Leu525=)
c.1501C>T (p.Leu501=)
c.1465C>T (p.Leu489=)
c.1462C>T (p.Leu488=)
c.892C>T (p.Leu298=)
n.1772-2962G>A
c.1417C>T (p.Leu473=)
c.925C>T (p.Leu309=)
 ClinVar gnomAD v4
2g.27364462G>CCA346196527EIF2B4,GTF3C2-AS2c.1510C>G (p.Leu504Val)
c.*776C>G (n.*776C>G)
c.1507C>G (p.Leu503Val)
c.1570C>G (p.Leu524Val)
n.503C>G
c.1573C>G (p.Leu525Val)
c.1501C>G (p.Leu501Val)
c.1465C>G (p.Leu489Val)
c.1462C>G (p.Leu488Val)
c.892C>G (p.Leu298Val)
n.1772-2962G>C
c.1417C>G (p.Leu473Val)
c.925C>G (p.Leu309Val)
2g.27364462G>TCA346196531EIF2B4,GTF3C2-AS2c.1510C>A (p.Leu504Met)
c.*776C>A (n.*776C>A)
c.1507C>A (p.Leu503Met)
c.1570C>A (p.Leu524Met)
n.503C>A
c.1573C>A (p.Leu525Met)
c.1501C>A (p.Leu501Met)
c.1465C>A (p.Leu489Met)
c.1462C>A (p.Leu488Met)
c.892C>A (p.Leu298Met)
n.1772-2962G>T
c.1417C>A (p.Leu473Met)
c.925C>A (p.Leu309Met)
2g.27364463C>ACA346196532EIF2B4,GTF3C2-AS2c.1509G>T (p.Glu503Asp)
c.*775G>T (n.*775G>T)
c.1506G>T (p.Glu502Asp)
c.1569G>T (p.Glu523Asp)
n.502G>T
c.1572G>T (p.Glu524Asp)
c.1500G>T (p.Glu500Asp)
c.1464G>T (p.Glu488Asp)
c.1461G>T (p.Glu487Asp)
c.891G>T (p.Glu297Asp)
n.1772-2961C>A
c.1416G>T (p.Glu472Asp)
c.924G>T (p.Glu308Asp)
2g.27364463C>GCA346196533EIF2B4,GTF3C2-AS2c.1509G>C (p.Glu503Asp)
c.*775G>C (n.*775G>C)
c.1506G>C (p.Glu502Asp)
c.1569G>C (p.Glu523Asp)
n.502G>C
c.1572G>C (p.Glu524Asp)
c.1500G>C (p.Glu500Asp)
c.1464G>C (p.Glu488Asp)
c.1461G>C (p.Glu487Asp)
c.891G>C (p.Glu297Asp)
n.1772-2961C>G
c.1416G>C (p.Glu472Asp)
c.924G>C (p.Glu308Asp)
2g.27364463C>TCA425409732EIF2B4,GTF3C2-AS2c.1509G>A (p.Glu503=)
c.*775G>A (n.*775G>A)
c.1506G>A (p.Glu502=)
c.1569G>A (p.Glu523=)
n.502G>A
c.1572G>A (p.Glu524=)
c.1500G>A (p.Glu500=)
c.1464G>A (p.Glu488=)
c.1461G>A (p.Glu487=)
c.891G>A (p.Glu297=)
n.1772-2961C>T
c.1416G>A (p.Glu472=)
c.924G>A (p.Glu308=)
2g.27364464T>ACA346196534EIF2B4,GTF3C2-AS2c.1508A>T (p.Glu503Val)
c.*774A>T (n.*774A>T)
c.1505A>T (p.Glu502Val)
c.1568A>T (p.Glu523Val)
n.501A>T
c.1571A>T (p.Glu524Val)
c.1499A>T (p.Glu500Val)
c.1463A>T (p.Glu488Val)
c.1460A>T (p.Glu487Val)
c.890A>T (p.Glu297Val)
n.1772-2960T>A
c.1415A>T (p.Glu472Val)
c.923A>T (p.Glu308Val)
2g.27364464T>CCA346196536EIF2B4,GTF3C2-AS2c.1508A>G (p.Glu503Gly)
c.*774A>G (n.*774A>G)
c.1505A>G (p.Glu502Gly)
c.1568A>G (p.Glu523Gly)
n.501A>G
c.1571A>G (p.Glu524Gly)
c.1499A>G (p.Glu500Gly)
c.1463A>G (p.Glu488Gly)
c.1460A>G (p.Glu487Gly)
c.890A>G (p.Glu297Gly)
n.1772-2960T>C
c.1415A>G (p.Glu472Gly)
c.923A>G (p.Glu308Gly)
2g.27364464T>GCA346196535EIF2B4,GTF3C2-AS2c.1508A>C (p.Glu503Ala)
c.*774A>C (n.*774A>C)
c.1505A>C (p.Glu502Ala)
c.1568A>C (p.Glu523Ala)
n.501A>C
c.1571A>C (p.Glu524Ala)
c.1499A>C (p.Glu500Ala)
c.1463A>C (p.Glu488Ala)
c.1460A>C (p.Glu487Ala)
c.890A>C (p.Glu297Ala)
n.1772-2960T>G
c.1415A>C (p.Glu472Ala)
c.923A>C (p.Glu308Ala)
2g.27364465C>ACA346196537EIF2B4,GTF3C2-AS2c.1507G>T (p.Glu503Ter)
c.*773G>T (n.*773G>T)
c.1504G>T (p.Glu502Ter)
c.1567G>T (p.Glu523Ter)
n.500G>T
c.1570G>T (p.Glu524Ter)
c.1498G>T (p.Glu500Ter)
c.1462G>T (p.Glu488Ter)
c.1459G>T (p.Glu487Ter)
c.889G>T (p.Glu297Ter)
n.1772-2959C>A
c.1414G>T (p.Glu472Ter)
c.922G>T (p.Glu308Ter)
2g.27364465C>GCA346196539EIF2B4,GTF3C2-AS2c.1507G>C (p.Glu503Gln)
c.*773G>C (n.*773G>C)
c.1504G>C (p.Glu502Gln)
c.1567G>C (p.Glu523Gln)
n.500G>C
c.1570G>C (p.Glu524Gln)
c.1498G>C (p.Glu500Gln)
c.1462G>C (p.Glu488Gln)
c.1459G>C (p.Glu487Gln)
c.889G>C (p.Glu297Gln)
n.1772-2959C>G
c.1414G>C (p.Glu472Gln)
c.922G>C (p.Glu308Gln)
2g.27364465C>TCA346196538EIF2B4,GTF3C2-AS2c.1507G>A (p.Glu503Lys)
c.*773G>A (n.*773G>A)
c.1504G>A (p.Glu502Lys)
c.1567G>A (p.Glu523Lys)
n.500G>A
c.1570G>A (p.Glu524Lys)
c.1498G>A (p.Glu500Lys)
c.1462G>A (p.Glu488Lys)
c.1459G>A (p.Glu487Lys)
c.889G>A (p.Glu297Lys)
n.1772-2959C>T
c.1414G>A (p.Glu472Lys)
c.922G>A (p.Glu308Lys)
2g.27364466C>ACA1576558EIF2B4,GTF3C2-AS2c.1506G>T (p.Thr502=)
c.*772G>T (n.*772G>T)
c.1503G>T (p.Thr501=)
c.1566G>T (p.Thr522=)
n.499G>T
c.1569G>T (p.Thr523=)
c.1497G>T (p.Thr499=)
c.1461G>T (p.Thr487=)
c.1458G>T (p.Thr486=)
c.888G>T (p.Thr296=)
n.1772-2958C>A
c.1413G>T (p.Thr471=)
c.921G>T (p.Thr307=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364466C=CA1240242787EIF2B4,GTF3C2-AS2c.1506G= (p.Thr502=)
c.*772G= (n.*772G=)
c.1503G= (p.Thr501=)
c.1566G= (p.Thr522=)
n.499G=
c.1569G= (p.Thr523=)
c.1497G= (p.Thr499=)
c.1461G= (p.Thr487=)
c.1458G= (p.Thr486=)
c.888G= (p.Thr296=)
n.1772-2958C=
c.1413G= (p.Thr471=)
c.921G= (p.Thr307=)
2g.27364466C>GCA425409734EIF2B4,GTF3C2-AS2c.1506G>C (p.Thr502=)
c.*772G>C (n.*772G>C)
c.1503G>C (p.Thr501=)
c.1566G>C (p.Thr522=)
n.499G>C
c.1569G>C (p.Thr523=)
c.1497G>C (p.Thr499=)
c.1461G>C (p.Thr487=)
c.1458G>C (p.Thr486=)
c.888G>C (p.Thr296=)
n.1772-2958C>G
c.1413G>C (p.Thr471=)
c.921G>C (p.Thr307=)
2g.27364466C>TCA1576557EIF2B4,GTF3C2-AS2c.1506G>A (p.Thr502=)
c.*772G>A (n.*772G>A)
c.1503G>A (p.Thr501=)
c.1566G>A (p.Thr522=)
n.499G>A
c.1569G>A (p.Thr523=)
c.1497G>A (p.Thr499=)
c.1461G>A (p.Thr487=)
c.1458G>A (p.Thr486=)
c.888G>A (p.Thr296=)
n.1772-2958C>T
c.1413G>A (p.Thr471=)
c.921G>A (p.Thr307=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364467G>ACA1576559EIF2B4,GTF3C2-AS2c.1505C>T (p.Thr502Met)
c.*771C>T (n.*771C>T)
c.1502C>T (p.Thr501Met)
c.1565C>T (p.Thr522Met)
n.498C>T
c.1568C>T (p.Thr523Met)
c.1496C>T (p.Thr499Met)
c.1460C>T (p.Thr487Met)
c.1457C>T (p.Thr486Met)
c.887C>T (p.Thr296Met)
n.1772-2957G>A
c.1412C>T (p.Thr471Met)
c.920C>T (p.Thr307Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.27364467G>CCA346196540EIF2B4,GTF3C2-AS2c.1505C>G (p.Thr502Arg)
c.*771C>G (n.*771C>G)
c.1502C>G (p.Thr501Arg)
c.1565C>G (p.Thr522Arg)
n.498C>G
c.1568C>G (p.Thr523Arg)
c.1496C>G (p.Thr499Arg)
c.1460C>G (p.Thr487Arg)
c.1457C>G (p.Thr486Arg)
c.887C>G (p.Thr296Arg)
n.1772-2957G>C
c.1412C>G (p.Thr471Arg)
c.920C>G (p.Thr307Arg)
 gnomAD v4
2g.27364467G=CA1240242788EIF2B4,GTF3C2-AS2c.1505C= (p.Thr502=)
c.*771C= (n.*771C=)
c.1502C= (p.Thr501=)
c.1565C= (p.Thr522=)
n.498C=
c.1568C= (p.Thr523=)
c.1496C= (p.Thr499=)
c.1460C= (p.Thr487=)
c.1457C= (p.Thr486=)
c.887C= (p.Thr296=)
n.1772-2957G=
c.1412C= (p.Thr471=)
c.920C= (p.Thr307=)
2g.27364467G>TCA346196541EIF2B4,GTF3C2-AS2c.1505C>A (p.Thr502Lys)
c.*771C>A (n.*771C>A)
c.1502C>A (p.Thr501Lys)
c.1565C>A (p.Thr522Lys)
n.498C>A
c.1568C>A (p.Thr523Lys)
c.1496C>A (p.Thr499Lys)
c.1460C>A (p.Thr487Lys)
c.1457C>A (p.Thr486Lys)
c.887C>A (p.Thr296Lys)
n.1772-2957G>T
c.1412C>A (p.Thr471Lys)
c.920C>A (p.Thr307Lys)
2g.27364468T>ACA346196542EIF2B4,GTF3C2-AS2c.1504A>T (p.Thr502Ser)
c.*770A>T (n.*770A>T)
c.1501A>T (p.Thr501Ser)
c.1564A>T (p.Thr522Ser)
n.497A>T
c.1567A>T (p.Thr523Ser)
c.1495A>T (p.Thr499Ser)
c.1459A>T (p.Thr487Ser)
c.1456A>T (p.Thr486Ser)
c.886A>T (p.Thr296Ser)
n.1772-2956T>A
c.1411A>T (p.Thr471Ser)
c.919A>T (p.Thr307Ser)
2g.27364468T>CCA346196543EIF2B4,GTF3C2-AS2c.1504A>G (p.Thr502Ala)
c.*770A>G (n.*770A>G)
c.1501A>G (p.Thr501Ala)
c.1564A>G (p.Thr522Ala)
n.497A>G
c.1567A>G (p.Thr523Ala)
c.1495A>G (p.Thr499Ala)
c.1459A>G (p.Thr487Ala)
c.1456A>G (p.Thr486Ala)
c.886A>G (p.Thr296Ala)
n.1772-2956T>C
c.1411A>G (p.Thr471Ala)
c.919A>G (p.Thr307Ala)
2g.27364468T>GCA346196544EIF2B4,GTF3C2-AS2c.1504A>C (p.Thr502Pro)
c.*770A>C (n.*770A>C)
c.1501A>C (p.Thr501Pro)
c.1564A>C (p.Thr522Pro)
n.497A>C
c.1567A>C (p.Thr523Pro)
c.1495A>C (p.Thr499Pro)
c.1459A>C (p.Thr487Pro)
c.1456A>C (p.Thr486Pro)
c.886A>C (p.Thr296Pro)
n.1772-2956T>G
c.1411A>C (p.Thr471Pro)
c.919A>C (p.Thr307Pro)
2g.27364469G>ACA425409739EIF2B4,GTF3C2-AS2c.1503C>T (p.Ile501=)
c.*769C>T (n.*769C>T)
c.1500C>T (p.Ile500=)
c.1563C>T (p.Ile521=)
n.496C>T
c.1566C>T (p.Ile522=)
c.1494C>T (p.Ile498=)
c.1458C>T (p.Ile486=)
c.1455C>T (p.Ile485=)
c.885C>T (p.Ile295=)
n.1772-2955G>A
c.1410C>T (p.Ile470=)
c.918C>T (p.Ile306=)
 gnomAD v4
2g.27364469G>CCA346196545EIF2B4,GTF3C2-AS2c.1503C>G (p.Ile501Met)
c.*769C>G (n.*769C>G)
c.1500C>G (p.Ile500Met)
c.1563C>G (p.Ile521Met)
n.496C>G
c.1566C>G (p.Ile522Met)
c.1494C>G (p.Ile498Met)
c.1458C>G (p.Ile486Met)
c.1455C>G (p.Ile485Met)
c.885C>G (p.Ile295Met)
n.1772-2955G>C
c.1410C>G (p.Ile470Met)
c.918C>G (p.Ile306Met)
2g.27364469G>TCA425409740EIF2B4,GTF3C2-AS2c.1503C>A (p.Ile501=)
c.*769C>A (n.*769C>A)
c.1500C>A (p.Ile500=)
c.1563C>A (p.Ile521=)
n.496C>A
c.1566C>A (p.Ile522=)
c.1494C>A (p.Ile498=)
c.1458C>A (p.Ile486=)
c.1455C>A (p.Ile485=)
c.885C>A (p.Ile295=)
n.1772-2955G>T
c.1410C>A (p.Ile470=)
c.918C>A (p.Ile306=)
2g.27364470A>CCA346196546EIF2B4,GTF3C2-AS2c.1502T>G (p.Ile501Ser)
c.*768T>G (n.*768T>G)
c.1499T>G (p.Ile500Ser)
c.1562T>G (p.Ile521Ser)
n.495T>G
c.1565T>G (p.Ile522Ser)
c.1493T>G (p.Ile498Ser)
c.1457T>G (p.Ile486Ser)
c.1454T>G (p.Ile485Ser)
c.884T>G (p.Ile295Ser)
n.1772-2954A>C
c.1409T>G (p.Ile470Ser)
c.917T>G (p.Ile306Ser)
2g.27364470A>GCA346196547EIF2B4,GTF3C2-AS2c.1502T>C (p.Ile501Thr)
c.*768T>C (n.*768T>C)
c.1499T>C (p.Ile500Thr)
c.1562T>C (p.Ile521Thr)
n.495T>C
c.1565T>C (p.Ile522Thr)
c.1493T>C (p.Ile498Thr)
c.1457T>C (p.Ile486Thr)
c.1454T>C (p.Ile485Thr)
c.884T>C (p.Ile295Thr)
n.1772-2954A>G
c.1409T>C (p.Ile470Thr)
c.917T>C (p.Ile306Thr)
2g.27364470A>TCA346196548EIF2B4,GTF3C2-AS2c.1502T>A (p.Ile501Asn)
c.*768T>A (n.*768T>A)
c.1499T>A (p.Ile500Asn)
c.1562T>A (p.Ile521Asn)
n.495T>A
c.1565T>A (p.Ile522Asn)
c.1493T>A (p.Ile498Asn)
c.1457T>A (p.Ile486Asn)
c.1454T>A (p.Ile485Asn)
c.884T>A (p.Ile295Asn)
n.1772-2954A>T
c.1409T>A (p.Ile470Asn)
c.917T>A (p.Ile306Asn)
2g.27364471T>ACA346196551EIF2B4,GTF3C2-AS2c.1501A>T (p.Ile501Phe)
c.*767A>T (n.*767A>T)
c.1498A>T (p.Ile500Phe)
c.1561A>T (p.Ile521Phe)
n.494A>T
c.1564A>T (p.Ile522Phe)
c.1492A>T (p.Ile498Phe)
c.1456A>T (p.Ile486Phe)
c.1453A>T (p.Ile485Phe)
c.883A>T (p.Ile295Phe)
n.1772-2953T>A
c.1408A>T (p.Ile470Phe)
c.916A>T (p.Ile306Phe)
2g.27364471T>CCA346196550EIF2B4,GTF3C2-AS2c.1501A>G (p.Ile501Val)
c.*767A>G (n.*767A>G)
c.1498A>G (p.Ile500Val)
c.1561A>G (p.Ile521Val)
n.494A>G
c.1564A>G (p.Ile522Val)
c.1492A>G (p.Ile498Val)
c.1456A>G (p.Ile486Val)
c.1453A>G (p.Ile485Val)
c.883A>G (p.Ile295Val)
n.1772-2953T>C
c.1408A>G (p.Ile470Val)
c.916A>G (p.Ile306Val)
2g.27364471T>GCA346196549EIF2B4,GTF3C2-AS2c.1501A>C (p.Ile501Leu)
c.*767A>C (n.*767A>C)
c.1498A>C (p.Ile500Leu)
c.1561A>C (p.Ile521Leu)
n.494A>C
c.1564A>C (p.Ile522Leu)
c.1492A>C (p.Ile498Leu)
c.1456A>C (p.Ile486Leu)
c.1453A>C (p.Ile485Leu)
c.883A>C (p.Ile295Leu)
n.1772-2953T>G
c.1408A>C (p.Ile470Leu)
c.916A>C (p.Ile306Leu)
2g.27364472C>ACA425409741EIF2B4,GTF3C2-AS2c.1500G>T (p.Val500=)
c.*766G>T (n.*766G>T)
c.1497G>T (p.Val499=)
c.1560G>T (p.Val520=)
n.493G>T
c.1563G>T (p.Val521=)
c.1491G>T (p.Val497=)
c.1455G>T (p.Val485=)
c.1452G>T (p.Val484=)
c.882G>T (p.Val294=)
n.1772-2952C>A
c.1407G>T (p.Val469=)
c.915G>T (p.Val305=)
2g.27364472C>GCA425409742EIF2B4,GTF3C2-AS2c.1500G>C (p.Val500=)
c.*766G>C (n.*766G>C)
c.1497G>C (p.Val499=)
c.1560G>C (p.Val520=)
n.493G>C
c.1563G>C (p.Val521=)
c.1491G>C (p.Val497=)
c.1455G>C (p.Val485=)
c.1452G>C (p.Val484=)
c.882G>C (p.Val294=)
n.1772-2952C>G
c.1407G>C (p.Val469=)
c.915G>C (p.Val305=)
2g.27364472C>TCA425409743EIF2B4,GTF3C2-AS2c.1500G>A (p.Val500=)
c.*766G>A (n.*766G>A)
c.1497G>A (p.Val499=)
c.1560G>A (p.Val520=)
n.493G>A
c.1563G>A (p.Val521=)
c.1491G>A (p.Val497=)
c.1455G>A (p.Val485=)
c.1452G>A (p.Val484=)
c.882G>A (p.Val294=)
n.1772-2952C>T
c.1407G>A (p.Val469=)
c.915G>A (p.Val305=)
 gnomAD v4
2g.27364473A>CCA346196552EIF2B4,GTF3C2-AS2c.1499T>G (p.Val500Gly)
c.*765T>G (n.*765T>G)
c.1496T>G (p.Val499Gly)
c.1559T>G (p.Val520Gly)
n.492T>G
c.1562T>G (p.Val521Gly)
c.1490T>G (p.Val497Gly)
c.1454T>G (p.Val485Gly)
c.1451T>G (p.Val484Gly)
c.881T>G (p.Val294Gly)
n.1772-2951A>C
c.1406T>G (p.Val469Gly)
c.914T>G (p.Val305Gly)
 gnomAD v4
2g.27364473A>GCA346196553EIF2B4,GTF3C2-AS2c.1499T>C (p.Val500Ala)
c.*765T>C (n.*765T>C)
c.1496T>C (p.Val499Ala)
c.1559T>C (p.Val520Ala)
n.492T>C
c.1562T>C (p.Val521Ala)
c.1490T>C (p.Val497Ala)
c.1454T>C (p.Val485Ala)
c.1451T>C (p.Val484Ala)
c.881T>C (p.Val294Ala)
n.1772-2951A>G
c.1406T>C (p.Val469Ala)
c.914T>C (p.Val305Ala)
2g.27364473A>TCA346196554EIF2B4,GTF3C2-AS2c.1499T>A (p.Val500Glu)
c.*765T>A (n.*765T>A)
c.1496T>A (p.Val499Glu)
c.1559T>A (p.Val520Glu)
n.492T>A
c.1562T>A (p.Val521Glu)
c.1490T>A (p.Val497Glu)
c.1454T>A (p.Val485Glu)
c.1451T>A (p.Val484Glu)
c.881T>A (p.Val294Glu)
n.1772-2951A>T
c.1406T>A (p.Val469Glu)
c.914T>A (p.Val305Glu)
2g.27364474C>ACA346196555EIF2B4,GTF3C2-AS2c.1498G>T (p.Val500Leu)
c.*764G>T (n.*764G>T)
c.1495G>T (p.Val499Leu)
c.1558G>T (p.Val520Leu)
n.491G>T
c.1561G>T (p.Val521Leu)
c.1489G>T (p.Val497Leu)
c.1453G>T (p.Val485Leu)
c.1450G>T (p.Val484Leu)
c.880G>T (p.Val294Leu)
n.1772-2950C>A
c.1405G>T (p.Val469Leu)
c.913G>T (p.Val305Leu)
2g.27364474C>GCA346196556EIF2B4,GTF3C2-AS2c.1498G>C (p.Val500Leu)
c.*764G>C (n.*764G>C)
c.1495G>C (p.Val499Leu)
c.1558G>C (p.Val520Leu)
n.491G>C
c.1561G>C (p.Val521Leu)
c.1489G>C (p.Val497Leu)
c.1453G>C (p.Val485Leu)
c.1450G>C (p.Val484Leu)
c.880G>C (p.Val294Leu)
n.1772-2950C>G
c.1405G>C (p.Val469Leu)
c.913G>C (p.Val305Leu)
2g.27364474C>TCA346196557EIF2B4,GTF3C2-AS2c.1498G>A (p.Val500Met)
c.*764G>A (n.*764G>A)
c.1495G>A (p.Val499Met)
c.1558G>A (p.Val520Met)
n.491G>A
c.1561G>A (p.Val521Met)
c.1489G>A (p.Val497Met)
c.1453G>A (p.Val485Met)
c.1450G>A (p.Val484Met)
c.880G>A (p.Val294Met)
n.1772-2950C>T
c.1405G>A (p.Val469Met)
c.913G>A (p.Val305Met)
2g.27364475C>ACA425409747EIF2B4,GTF3C2-AS2c.1497G>T (p.Leu499=)
c.*763G>T (n.*763G>T)
c.1494G>T (p.Leu498=)
c.1557G>T (p.Leu519=)
n.490G>T
c.1560G>T (p.Leu520=)
c.1488G>T (p.Leu496=)
c.1452G>T (p.Leu484=)
c.1449G>T (p.Leu483=)
c.879G>T (p.Leu293=)
n.1772-2949C>A
c.1404G>T (p.Leu468=)
c.912G>T (p.Leu304=)
2g.27364475C>GCA425409748EIF2B4,GTF3C2-AS2c.1497G>C (p.Leu499=)
c.*763G>C (n.*763G>C)
c.1494G>C (p.Leu498=)
c.1557G>C (p.Leu519=)
n.490G>C
c.1560G>C (p.Leu520=)
c.1488G>C (p.Leu496=)
c.1452G>C (p.Leu484=)
c.1449G>C (p.Leu483=)
c.879G>C (p.Leu293=)
n.1772-2949C>G
c.1404G>C (p.Leu468=)
c.912G>C (p.Leu304=)
2g.27364475C>TCA425409749EIF2B4,GTF3C2-AS2c.1497G>A (p.Leu499=)
c.*763G>A (n.*763G>A)
c.1494G>A (p.Leu498=)
c.1557G>A (p.Leu519=)
n.490G>A
c.1560G>A (p.Leu520=)
c.1488G>A (p.Leu496=)
c.1452G>A (p.Leu484=)
c.1449G>A (p.Leu483=)
c.879G>A (p.Leu293=)
n.1772-2949C>T
c.1404G>A (p.Leu468=)
c.912G>A (p.Leu304=)
2g.27364476A=CA1240242789EIF2B4,GTF3C2-AS2c.1496T= (p.Leu499=)
c.*762T= (n.*762T=)
c.1493T= (p.Leu498=)
c.1556T= (p.Leu519=)
n.489T=
c.1559T= (p.Leu520=)
c.1487T= (p.Leu496=)
c.1451T= (p.Leu484=)
c.1448T= (p.Leu483=)
c.878T= (p.Leu293=)
n.1772-2948A=
c.1403T= (p.Leu468=)
c.911T= (p.Leu304=)
2g.27364476A>CCA346196558EIF2B4,GTF3C2-AS2c.1496T>G (p.Leu499Arg)
c.*762T>G (n.*762T>G)
c.1493T>G (p.Leu498Arg)
c.1556T>G (p.Leu519Arg)
n.489T>G
c.1559T>G (p.Leu520Arg)
c.1487T>G (p.Leu496Arg)
c.1451T>G (p.Leu484Arg)
c.1448T>G (p.Leu483Arg)
c.878T>G (p.Leu293Arg)
n.1772-2948A>C
c.1403T>G (p.Leu468Arg)
c.911T>G (p.Leu304Arg)
2g.27364476A>GCA346196559EIF2B4,GTF3C2-AS2c.1496T>C (p.Leu499Pro)
c.*762T>C (n.*762T>C)
c.1493T>C (p.Leu498Pro)
c.1556T>C (p.Leu519Pro)
n.489T>C
c.1559T>C (p.Leu520Pro)
c.1487T>C (p.Leu496Pro)
c.1451T>C (p.Leu484Pro)
c.1448T>C (p.Leu483Pro)
c.878T>C (p.Leu293Pro)
n.1772-2948A>G
c.1403T>C (p.Leu468Pro)
c.911T>C (p.Leu304Pro)
 dbSNP COSMIC COSMIC
2g.27364476A>TCA346196560EIF2B4,GTF3C2-AS2c.1496T>A (p.Leu499Gln)
c.*762T>A (n.*762T>A)
c.1493T>A (p.Leu498Gln)
c.1556T>A (p.Leu519Gln)
n.489T>A
c.1559T>A (p.Leu520Gln)
c.1487T>A (p.Leu496Gln)
c.1451T>A (p.Leu484Gln)
c.1448T>A (p.Leu483Gln)
c.878T>A (p.Leu293Gln)
n.1772-2948A>T
c.1403T>A (p.Leu468Gln)
c.911T>A (p.Leu304Gln)
2g.27364477G>ACA44509103EIF2B4,GTF3C2-AS2c.1495C>T (p.Leu499=)
c.*761C>T (n.*761C>T)
c.1492C>T (p.Leu498=)
c.1555C>T (p.Leu519=)
n.488C>T
c.1558C>T (p.Leu520=)
c.1486C>T (p.Leu496=)
c.1450C>T (p.Leu484=)
c.1447C>T (p.Leu483=)
c.877C>T (p.Leu293=)
n.1772-2947G>A
c.1402C>T (p.Leu468=)
c.910C>T (p.Leu304=)
 dbSNP
2g.27364477G>CCA346196561EIF2B4,GTF3C2-AS2c.1495C>G (p.Leu499Val)
c.*761C>G (n.*761C>G)
c.1492C>G (p.Leu498Val)
c.1555C>G (p.Leu519Val)
n.488C>G
c.1558C>G (p.Leu520Val)
c.1486C>G (p.Leu496Val)
c.1450C>G (p.Leu484Val)
c.1447C>G (p.Leu483Val)
c.877C>G (p.Leu293Val)
n.1772-2947G>C
c.1402C>G (p.Leu468Val)
c.910C>G (p.Leu304Val)
2g.27364477G=CA1240242790EIF2B4,GTF3C2-AS2c.1495C= (p.Leu499=)
c.*761C= (n.*761C=)
c.1492C= (p.Leu498=)
c.1555C= (p.Leu519=)
n.488C=
c.1558C= (p.Leu520=)
c.1486C= (p.Leu496=)
c.1450C= (p.Leu484=)
c.1447C= (p.Leu483=)
c.877C= (p.Leu293=)
n.1772-2947G=
c.1402C= (p.Leu468=)
c.910C= (p.Leu304=)
2g.27364477G>TCA346196562EIF2B4,GTF3C2-AS2c.1495C>A (p.Leu499Met)
c.*761C>A (n.*761C>A)
c.1492C>A (p.Leu498Met)
c.1555C>A (p.Leu519Met)
n.488C>A
c.1558C>A (p.Leu520Met)
c.1486C>A (p.Leu496Met)
c.1450C>A (p.Leu484Met)
c.1447C>A (p.Leu483Met)
c.877C>A (p.Leu293Met)
n.1772-2947G>T
c.1402C>A (p.Leu468Met)
c.910C>A (p.Leu304Met)
2g.27364478A=CA1240242791EIF2B4,GTF3C2-AS2c.1494T= (p.Asp498=)
c.*760T= (n.*760T=)
c.1491T= (p.Asp497=)
c.1554T= (p.Asp518=)
n.487T=
c.1557T= (p.Asp519=)
c.1485T= (p.Asp495=)
c.1449T= (p.Asp483=)
c.1446T= (p.Asp482=)
c.876T= (p.Asp292=)
n.1772-2946A=
c.1401T= (p.Asp467=)
c.909T= (p.Asp303=)
2g.27364478A>CCA346196563EIF2B4,GTF3C2-AS2c.1494T>G (p.Asp498Glu)
c.*760T>G (n.*760T>G)
c.1491T>G (p.Asp497Glu)
c.1554T>G (p.Asp518Glu)
n.487T>G
c.1557T>G (p.Asp519Glu)
c.1485T>G (p.Asp495Glu)
c.1449T>G (p.Asp483Glu)
c.1446T>G (p.Asp482Glu)
c.876T>G (p.Asp292Glu)
n.1772-2946A>C
c.1401T>G (p.Asp467Glu)
c.909T>G (p.Asp303Glu)
2g.27364478A>GCA425409750EIF2B4,GTF3C2-AS2c.1494T>C (p.Asp498=)
c.*760T>C (n.*760T>C)
c.1491T>C (p.Asp497=)
c.1554T>C (p.Asp518=)
n.487T>C
c.1557T>C (p.Asp519=)
c.1485T>C (p.Asp495=)
c.1449T>C (p.Asp483=)
c.1446T>C (p.Asp482=)
c.876T>C (p.Asp292=)
n.1772-2946A>G
c.1401T>C (p.Asp467=)
c.909T>C (p.Asp303=)
2g.27364478A>TCA346196564EIF2B4,GTF3C2-AS2c.1494T>A (p.Asp498Glu)
c.*760T>A (n.*760T>A)
c.1491T>A (p.Asp497Glu)
c.1554T>A (p.Asp518Glu)
n.487T>A
c.1557T>A (p.Asp519Glu)
c.1485T>A (p.Asp495Glu)
c.1449T>A (p.Asp483Glu)
c.1446T>A (p.Asp482Glu)
c.876T>A (p.Asp292Glu)
n.1772-2946A>T
c.1401T>A (p.Asp467Glu)
c.909T>A (p.Asp303Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.27364479T>ACA346196565EIF2B4,GTF3C2-AS2c.1493A>T (p.Asp498Val)
c.*759A>T (n.*759A>T)
c.1490A>T (p.Asp497Val)
c.1553A>T (p.Asp518Val)
n.486A>T
c.1556A>T (p.Asp519Val)
c.1484A>T (p.Asp495Val)
c.1448A>T (p.Asp483Val)
c.1445A>T (p.Asp482Val)
c.875A>T (p.Asp292Val)
n.1772-2945T>A
c.1400A>T (p.Asp467Val)
c.908A>T (p.Asp303Val)
2g.27364479T>CCA346196566EIF2B4,GTF3C2-AS2c.1493A>G (p.Asp498Gly)
c.*759A>G (n.*759A>G)
c.1490A>G (p.Asp497Gly)
c.1553A>G (p.Asp518Gly)
n.486A>G
c.1556A>G (p.Asp519Gly)
c.1484A>G (p.Asp495Gly)
c.1448A>G (p.Asp483Gly)
c.1445A>G (p.Asp482Gly)
c.875A>G (p.Asp292Gly)
n.1772-2945T>C
c.1400A>G (p.Asp467Gly)
c.908A>G (p.Asp303Gly)
2g.27364479T>GCA346196567EIF2B4,GTF3C2-AS2c.1493A>C (p.Asp498Ala)
c.*759A>C (n.*759A>C)
c.1490A>C (p.Asp497Ala)
c.1553A>C (p.Asp518Ala)
n.486A>C
c.1556A>C (p.Asp519Ala)
c.1484A>C (p.Asp495Ala)
c.1448A>C (p.Asp483Ala)
c.1445A>C (p.Asp482Ala)
c.875A>C (p.Asp292Ala)
n.1772-2945T>G
c.1400A>C (p.Asp467Ala)
c.908A>C (p.Asp303Ala)
2g.27364479_27364480delinsTCCA1240242792EIF2B4,GTF3C2-AS2c.1492_1493delinsGA (p.Asp498=)
c.*758_*759delinsGA (n.*758_*759delinsGA)
c.1489_1490delinsGA (p.Asp497=)
c.1552_1553delinsGA (p.Asp518=)
n.485_486delinsGA
c.1555_1556delinsGA (p.Asp519=)
c.1483_1484delinsGA (p.Asp495=)
c.1447_1448delinsGA (p.Asp483=)
c.1444_1445delinsGA (p.Asp482=)
c.874_875delinsGA (p.Asp292=)
n.1772-2945_1772-2944delinsTC
c.1399_1400delinsGA (p.Asp467=)
c.907_908delinsGA (p.Asp303=)
2g.27364480C>ACA346196568EIF2B4,GTF3C2-AS2c.1492G>T (p.Asp498Tyr)
c.*758G>T (n.*758G>T)
c.1489G>T (p.Asp497Tyr)
c.1552G>T (p.Asp518Tyr)
n.485G>T
c.1555G>T (p.Asp519Tyr)
c.1483G>T (p.Asp495Tyr)
c.1447G>T (p.Asp483Tyr)
c.1444G>T (p.Asp482Tyr)
c.874G>T (p.Asp292Tyr)
n.1772-2944C>A
c.1399G>T (p.Asp467Tyr)
c.907G>T (p.Asp303Tyr)
2g.27364480C=CA1240242793EIF2B4,GTF3C2-AS2c.1492G= (p.Asp498=)
c.*758G= (n.*758G=)
c.1489G= (p.Asp497=)
c.1552G= (p.Asp518=)
n.485G=
c.1555G= (p.Asp519=)
c.1483G= (p.Asp495=)
c.1447G= (p.Asp483=)
c.1444G= (p.Asp482=)
c.874G= (p.Asp292=)
n.1772-2944C=
c.1399G= (p.Asp467=)
c.907G= (p.Asp303=)
2g.27364480C>GCA346196569EIF2B4,GTF3C2-AS2c.1492G>C (p.Asp498His)
c.*758G>C (n.*758G>C)
c.1489G>C (p.Asp497His)
c.1552G>C (p.Asp518His)
n.485G>C
c.1555G>C (p.Asp519His)
c.1483G>C (p.Asp495His)
c.1447G>C (p.Asp483His)
c.1444G>C (p.Asp482His)
c.874G>C (p.Asp292His)
n.1772-2944C>G
c.1399G>C (p.Asp467His)
c.907G>C (p.Asp303His)
2g.27364480C>TCA346196570EIF2B4,GTF3C2-AS2c.1492G>A (p.Asp498Asn)
c.*758G>A (n.*758G>A)
c.1489G>A (p.Asp497Asn)
c.1552G>A (p.Asp518Asn)
n.485G>A
c.1555G>A (p.Asp519Asn)
c.1483G>A (p.Asp495Asn)
c.1447G>A (p.Asp483Asn)
c.1444G>A (p.Asp482Asn)
c.874G>A (p.Asp292Asn)
n.1772-2944C>T
c.1399G>A (p.Asp467Asn)
c.907G>A (p.Asp303Asn)
 dbSNP gnomAD v2
2g.27364481delCA531764803EIF2B4,GTF3C2-AS2c.1492del (p.Asp498IlefsTer3)
c.*758del (n.*758del)
c.1489del (p.Asp497IlefsTer3)
c.1552del (p.Asp518IlefsTer3)
n.485del
c.1555del (p.Asp519IlefsTer3)
c.1483del (p.Asp495IlefsTer3)
c.1447del (p.Asp483IlefsTer3)
c.1444del (p.Asp482IlefsTer3)
c.874del (p.Asp292IlefsTer3)
n.1772-2943del
c.1399del (p.Asp467IlefsTer3)
c.907del (p.Asp303IlefsTer3)
 dbSNP gnomAD v2 gnomAD v4
2g.27364481C>ACA425409753EIF2B4,GTF3C2-AS2c.1491G>T (p.Val497=)
c.*757G>T (n.*757G>T)
c.1488G>T (p.Val496=)
c.1551G>T (p.Val517=)
n.484G>T
c.1554G>T (p.Val518=)
c.1482G>T (p.Val494=)
c.1446G>T (p.Val482=)
c.1443G>T (p.Val481=)
c.873G>T (p.Val291=)
n.1772-2943C>A
c.1398G>T (p.Val466=)
c.906G>T (p.Val302=)
2g.27364481C>GCA425409752EIF2B4,GTF3C2-AS2c.1491G>C (p.Val497=)
c.*757G>C (n.*757G>C)
c.1488G>C (p.Val496=)
c.1551G>C (p.Val517=)
n.484G>C
c.1554G>C (p.Val518=)
c.1482G>C (p.Val494=)
c.1446G>C (p.Val482=)
c.1443G>C (p.Val481=)
c.873G>C (p.Val291=)
n.1772-2943C>G
c.1398G>C (p.Val466=)
c.906G>C (p.Val302=)
2g.27364481C>TCA425409751EIF2B4,GTF3C2-AS2c.1491G>A (p.Val497=)
c.*757G>A (n.*757G>A)
c.1488G>A (p.Val496=)
c.1551G>A (p.Val517=)
n.484G>A
c.1554G>A (p.Val518=)
c.1482G>A (p.Val494=)
c.1446G>A (p.Val482=)
c.1443G>A (p.Val481=)
c.873G>A (p.Val291=)
n.1772-2943C>T
c.1398G>A (p.Val466=)
c.906G>A (p.Val302=)
 ClinVar gnomAD v4
2g.27364482A>CCA346196571EIF2B4,GTF3C2-AS2c.1490T>G (p.Val497Gly)
c.*756T>G (n.*756T>G)
c.1487T>G (p.Val496Gly)
c.1550T>G (p.Val517Gly)
n.483T>G
c.1553T>G (p.Val518Gly)
c.1481T>G (p.Val494Gly)
c.1445T>G (p.Val482Gly)
c.1442T>G (p.Val481Gly)
c.872T>G (p.Val291Gly)
n.1772-2942A>C
c.1397T>G (p.Val466Gly)
c.905T>G (p.Val302Gly)
2g.27364482A>GCA346196572EIF2B4,GTF3C2-AS2c.1490T>C (p.Val497Ala)
c.*756T>C (n.*756T>C)
c.1487T>C (p.Val496Ala)
c.1550T>C (p.Val517Ala)
n.483T>C
c.1553T>C (p.Val518Ala)
c.1481T>C (p.Val494Ala)
c.1445T>C (p.Val482Ala)
c.1442T>C (p.Val481Ala)
c.872T>C (p.Val291Ala)
n.1772-2942A>G
c.1397T>C (p.Val466Ala)
c.905T>C (p.Val302Ala)
2g.27364482A>TCA346196573EIF2B4,GTF3C2-AS2c.1490T>A (p.Val497Glu)
c.*756T>A (n.*756T>A)
c.1487T>A (p.Val496Glu)
c.1550T>A (p.Val517Glu)
n.483T>A
c.1553T>A (p.Val518Glu)
c.1481T>A (p.Val494Glu)
c.1445T>A (p.Val482Glu)
c.1442T>A (p.Val481Glu)
c.872T>A (p.Val291Glu)
n.1772-2942A>T
c.1397T>A (p.Val466Glu)
c.905T>A (p.Val302Glu)
 dbSNP
2g.27364483C>ACA346196574EIF2B4,GTF3C2-AS2c.1489G>T (p.Val497Leu)
c.*755G>T (n.*755G>T)
c.1486G>T (p.Val496Leu)
c.1549G>T (p.Val517Leu)
n.482G>T
c.1552G>T (p.Val518Leu)
c.1480G>T (p.Val494Leu)
c.1444G>T (p.Val482Leu)
c.1441G>T (p.Val481Leu)
c.871G>T (p.Val291Leu)
n.1772-2941C>A
c.1396G>T (p.Val466Leu)
c.904G>T (p.Val302Leu)
2g.27364483C=CA1240242794EIF2B4,GTF3C2-AS2c.1489G= (p.Val497=)
c.*755G= (n.*755G=)
c.1486G= (p.Val496=)
c.1549G= (p.Val517=)
n.482G=
c.1552G= (p.Val518=)
c.1480G= (p.Val494=)
c.1444G= (p.Val482=)
c.1441G= (p.Val481=)
c.871G= (p.Val291=)
n.1772-2941C=
c.1396G= (p.Val466=)
c.904G= (p.Val302=)
2g.27364483C>GCA346196575EIF2B4,GTF3C2-AS2c.1489G>C (p.Val497Leu)
c.*755G>C (n.*755G>C)
c.1486G>C (p.Val496Leu)
c.1549G>C (p.Val517Leu)
n.482G>C
c.1552G>C (p.Val518Leu)
c.1480G>C (p.Val494Leu)
c.1444G>C (p.Val482Leu)
c.1441G>C (p.Val481Leu)
c.871G>C (p.Val291Leu)
n.1772-2941C>G
c.1396G>C (p.Val466Leu)
c.904G>C (p.Val302Leu)
2g.27364483C>TCA1576560EIF2B4,GTF3C2-AS2c.1489G>A (p.Val497Met)
c.*755G>A (n.*755G>A)
c.1486G>A (p.Val496Met)
c.1549G>A (p.Val517Met)
n.482G>A
c.1552G>A (p.Val518Met)
c.1480G>A (p.Val494Met)
c.1444G>A (p.Val482Met)
c.1441G>A (p.Val481Met)
c.871G>A (p.Val291Met)
n.1772-2941C>T
c.1396G>A (p.Val466Met)
c.904G>A (p.Val302Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364484A=CA1240242795EIF2B4,GTF3C2-AS2c.1488T= (p.Leu496=)
c.*754T= (n.*754T=)
c.1485T= (p.Leu495=)
c.1548T= (p.Leu516=)
n.481T=
c.1551T= (p.Leu517=)
c.1479T= (p.Leu493=)
c.1443T= (p.Leu481=)
c.1440T= (p.Leu480=)
c.870T= (p.Leu290=)
n.1772-2940A=
c.1395T= (p.Leu465=)
c.903T= (p.Leu301=)
2g.27364484A>CCA425409756EIF2B4,GTF3C2-AS2c.1488T>G (p.Leu496=)
c.*754T>G (n.*754T>G)
c.1485T>G (p.Leu495=)
c.1548T>G (p.Leu516=)
n.481T>G
c.1551T>G (p.Leu517=)
c.1479T>G (p.Leu493=)
c.1443T>G (p.Leu481=)
c.1440T>G (p.Leu480=)
c.870T>G (p.Leu290=)
n.1772-2940A>C
c.1395T>G (p.Leu465=)
c.903T>G (p.Leu301=)
2g.27364484A>GCA425409755EIF2B4,GTF3C2-AS2c.1488T>C (p.Leu496=)
c.*754T>C (n.*754T>C)
c.1485T>C (p.Leu495=)
c.1548T>C (p.Leu516=)
n.481T>C
c.1551T>C (p.Leu517=)
c.1479T>C (p.Leu493=)
c.1443T>C (p.Leu481=)
c.1440T>C (p.Leu480=)
c.870T>C (p.Leu290=)
n.1772-2940A>G
c.1395T>C (p.Leu465=)
c.903T>C (p.Leu301=)
 ClinVar dbSNP
2g.27364484A>TCA425409754EIF2B4,GTF3C2-AS2c.1488T>A (p.Leu496=)
c.*754T>A (n.*754T>A)
c.1485T>A (p.Leu495=)
c.1548T>A (p.Leu516=)
n.481T>A
c.1551T>A (p.Leu517=)
c.1479T>A (p.Leu493=)
c.1443T>A (p.Leu481=)
c.1440T>A (p.Leu480=)
c.870T>A (p.Leu290=)
n.1772-2940A>T
c.1395T>A (p.Leu465=)
c.903T>A (p.Leu301=)
2g.27364485A>CCA346196578EIF2B4,GTF3C2-AS2c.1487T>G (p.Leu496Arg)
c.*753T>G (n.*753T>G)
c.1484T>G (p.Leu495Arg)
c.1547T>G (p.Leu516Arg)
n.480T>G
c.1550T>G (p.Leu517Arg)
c.1478T>G (p.Leu493Arg)
c.1442T>G (p.Leu481Arg)
c.1439T>G (p.Leu480Arg)
c.869T>G (p.Leu290Arg)
n.1772-2939A>C
c.1394T>G (p.Leu465Arg)
c.902T>G (p.Leu301Arg)
2g.27364485A>GCA346196576EIF2B4,GTF3C2-AS2c.1487T>C (p.Leu496Pro)
c.*753T>C (n.*753T>C)
c.1484T>C (p.Leu495Pro)
c.1547T>C (p.Leu516Pro)
n.480T>C
c.1550T>C (p.Leu517Pro)
c.1478T>C (p.Leu493Pro)
c.1442T>C (p.Leu481Pro)
c.1439T>C (p.Leu480Pro)
c.869T>C (p.Leu290Pro)
n.1772-2939A>G
c.1394T>C (p.Leu465Pro)
c.902T>C (p.Leu301Pro)
2g.27364485A>TCA346196577EIF2B4,GTF3C2-AS2c.1487T>A (p.Leu496His)
c.*753T>A (n.*753T>A)
c.1484T>A (p.Leu495His)
c.1547T>A (p.Leu516His)
n.480T>A
c.1550T>A (p.Leu517His)
c.1478T>A (p.Leu493His)
c.1442T>A (p.Leu481His)
c.1439T>A (p.Leu480His)
c.869T>A (p.Leu290His)
n.1772-2939A>T
c.1394T>A (p.Leu465His)
c.902T>A (p.Leu301His)
2g.27364486G>ACA346196579EIF2B4,GTF3C2-AS2c.1486C>T (p.Leu496Phe)
c.*752C>T (n.*752C>T)
c.1483C>T (p.Leu495Phe)
c.1546C>T (p.Leu516Phe)
n.479C>T
c.1549C>T (p.Leu517Phe)
c.1477C>T (p.Leu493Phe)
c.1441C>T (p.Leu481Phe)
c.1438C>T (p.Leu480Phe)
c.868C>T (p.Leu290Phe)
n.1772-2938G>A
c.1393C>T (p.Leu465Phe)
c.901C>T (p.Leu301Phe)
2g.27364486G>CCA346196580EIF2B4,GTF3C2-AS2c.1486C>G (p.Leu496Val)
c.*752C>G (n.*752C>G)
c.1483C>G (p.Leu495Val)
c.1546C>G (p.Leu516Val)
n.479C>G
c.1549C>G (p.Leu517Val)
c.1477C>G (p.Leu493Val)
c.1441C>G (p.Leu481Val)
c.1438C>G (p.Leu480Val)
c.868C>G (p.Leu290Val)
n.1772-2938G>C
c.1393C>G (p.Leu465Val)
c.901C>G (p.Leu301Val)
2g.27364486G>TCA346196581EIF2B4,GTF3C2-AS2c.1486C>A (p.Leu496Ile)
c.*752C>A (n.*752C>A)
c.1483C>A (p.Leu495Ile)
c.1546C>A (p.Leu516Ile)
n.479C>A
c.1549C>A (p.Leu517Ile)
c.1477C>A (p.Leu493Ile)
c.1441C>A (p.Leu481Ile)
c.1438C>A (p.Leu480Ile)
c.868C>A (p.Leu290Ile)
n.1772-2938G>T
c.1393C>A (p.Leu465Ile)
c.901C>A (p.Leu301Ile)
 gnomAD v4
2g.27364487C>ACA346196582EIF2B4,GTF3C2-AS2c.1485G>T (p.Glu495Asp)
c.*751G>T (n.*751G>T)
c.1482G>T (p.Glu494Asp)
c.1545G>T (p.Glu515Asp)
n.478G>T
c.1548G>T (p.Glu516Asp)
c.1476G>T (p.Glu492Asp)
c.1440G>T (p.Glu480Asp)
c.1437G>T (p.Glu479Asp)
c.867G>T (p.Glu289Asp)
n.1772-2937C>A
c.1392G>T (p.Glu464Asp)
c.900G>T (p.Glu300Asp)
2g.27364487C>GCA346196583EIF2B4,GTF3C2-AS2c.1485G>C (p.Glu495Asp)
c.*751G>C (n.*751G>C)
c.1482G>C (p.Glu494Asp)
c.1545G>C (p.Glu515Asp)
n.478G>C
c.1548G>C (p.Glu516Asp)
c.1476G>C (p.Glu492Asp)
c.1440G>C (p.Glu480Asp)
c.1437G>C (p.Glu479Asp)
c.867G>C (p.Glu289Asp)
n.1772-2937C>G
c.1392G>C (p.Glu464Asp)
c.900G>C (p.Glu300Asp)
2g.27364487C>TCA425409757EIF2B4,GTF3C2-AS2c.1485G>A (p.Glu495=)
c.*751G>A (n.*751G>A)
c.1482G>A (p.Glu494=)
c.1545G>A (p.Glu515=)
n.478G>A
c.1548G>A (p.Glu516=)
c.1476G>A (p.Glu492=)
c.1440G>A (p.Glu480=)
c.1437G>A (p.Glu479=)
c.867G>A (p.Glu289=)
n.1772-2937C>T
c.1392G>A (p.Glu464=)
c.900G>A (p.Glu300=)
2g.27364488T>ACA346196584EIF2B4,GTF3C2-AS2c.1484A>T (p.Glu495Val)
c.*750A>T (n.*750A>T)
c.1481A>T (p.Glu494Val)
c.1544A>T (p.Glu515Val)
n.477A>T
c.1547A>T (p.Glu516Val)
c.1475A>T (p.Glu492Val)
c.1439A>T (p.Glu480Val)
c.1436A>T (p.Glu479Val)
c.866A>T (p.Glu289Val)
n.1772-2936T>A
c.1391A>T (p.Glu464Val)
c.899A>T (p.Glu300Val)
2g.27364488T>CCA346196585EIF2B4,GTF3C2-AS2c.1484A>G (p.Glu495Gly)
c.*750A>G (n.*750A>G)
c.1481A>G (p.Glu494Gly)
c.1544A>G (p.Glu515Gly)
n.477A>G
c.1547A>G (p.Glu516Gly)
c.1475A>G (p.Glu492Gly)
c.1439A>G (p.Glu480Gly)
c.1436A>G (p.Glu479Gly)
c.866A>G (p.Glu289Gly)
n.1772-2936T>C
c.1391A>G (p.Glu464Gly)
c.899A>G (p.Glu300Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.27364488T>GCA346196586EIF2B4,GTF3C2-AS2c.1484A>C (p.Glu495Ala)
c.*750A>C (n.*750A>C)
c.1481A>C (p.Glu494Ala)
c.1544A>C (p.Glu515Ala)
n.477A>C
c.1547A>C (p.Glu516Ala)
c.1475A>C (p.Glu492Ala)
c.1439A>C (p.Glu480Ala)
c.1436A>C (p.Glu479Ala)
c.866A>C (p.Glu289Ala)
n.1772-2936T>G
c.1391A>C (p.Glu464Ala)
c.899A>C (p.Glu300Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.27364488T=CA1240242796EIF2B4,GTF3C2-AS2c.1484A= (p.Glu495=)
c.*750A= (n.*750A=)
c.1481A= (p.Glu494=)
c.1544A= (p.Glu515=)
n.477A=
c.1547A= (p.Glu516=)
c.1475A= (p.Glu492=)
c.1439A= (p.Glu480=)
c.1436A= (p.Glu479=)
c.866A= (p.Glu289=)
n.1772-2936T=
c.1391A= (p.Glu464=)
c.899A= (p.Glu300=)
2g.27364489C>ACA346196587EIF2B4,GTF3C2-AS2c.1483G>T (p.Glu495Ter)
c.*749G>T (n.*749G>T)
c.1480G>T (p.Glu494Ter)
c.1543G>T (p.Glu515Ter)
n.476G>T
c.1546G>T (p.Glu516Ter)
c.1474G>T (p.Glu492Ter)
c.1438G>T (p.Glu480Ter)
c.1435G>T (p.Glu479Ter)
c.865G>T (p.Glu289Ter)
n.1772-2935C>A
c.1390G>T (p.Glu464Ter)
c.898G>T (p.Glu300Ter)
2g.27364489C=CA1240242797EIF2B4,GTF3C2-AS2c.1483G= (p.Glu495=)
c.*749G= (n.*749G=)
c.1480G= (p.Glu494=)
c.1543G= (p.Glu515=)
n.476G=
c.1546G= (p.Glu516=)
c.1474G= (p.Glu492=)
c.1438G= (p.Glu480=)
c.1435G= (p.Glu479=)
c.865G= (p.Glu289=)
n.1772-2935C=
c.1390G= (p.Glu464=)
c.898G= (p.Glu300=)
2g.27364489C>GCA1576561EIF2B4,GTF3C2-AS2c.1483G>C (p.Glu495Gln)
c.*749G>C (n.*749G>C)
c.1480G>C (p.Glu494Gln)
c.1543G>C (p.Glu515Gln)
n.476G>C
c.1546G>C (p.Glu516Gln)
c.1474G>C (p.Glu492Gln)
c.1438G>C (p.Glu480Gln)
c.1435G>C (p.Glu479Gln)
c.865G>C (p.Glu289Gln)
n.1772-2935C>G
c.1390G>C (p.Glu464Gln)
c.898G>C (p.Glu300Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364489C>TCA346196588EIF2B4,GTF3C2-AS2c.1483G>A (p.Glu495Lys)
c.*749G>A (n.*749G>A)
c.1480G>A (p.Glu494Lys)
c.1543G>A (p.Glu515Lys)
n.476G>A
c.1546G>A (p.Glu516Lys)
c.1474G>A (p.Glu492Lys)
c.1438G>A (p.Glu480Lys)
c.1435G>A (p.Glu479Lys)
c.865G>A (p.Glu289Lys)
n.1772-2935C>T
c.1390G>A (p.Glu464Lys)
c.898G>A (p.Glu300Lys)
2g.27364490T>ACA425409758EIF2B4,GTF3C2-AS2c.1482A>T (p.Pro494=)
c.*748A>T (n.*748A>T)
c.1479A>T (p.Pro493=)
c.1542A>T (p.Pro514=)
n.475A>T
c.1545A>T (p.Pro515=)
c.1473A>T (p.Pro491=)
c.1437A>T (p.Pro479=)
c.1434A>T (p.Pro478=)
c.864A>T (p.Pro288=)
n.1772-2934T>A
c.1389A>T (p.Pro463=)
c.897A>T (p.Pro299=)
2g.27364490T>CCA425409759EIF2B4,GTF3C2-AS2c.1482A>G (p.Pro494=)
c.*748A>G (n.*748A>G)
c.1479A>G (p.Pro493=)
c.1542A>G (p.Pro514=)
n.475A>G
c.1545A>G (p.Pro515=)
c.1473A>G (p.Pro491=)
c.1437A>G (p.Pro479=)
c.1434A>G (p.Pro478=)
c.864A>G (p.Pro288=)
n.1772-2934T>C
c.1389A>G (p.Pro463=)
c.897A>G (p.Pro299=)
2g.27364490T>GCA425409760EIF2B4,GTF3C2-AS2c.1482A>C (p.Pro494=)
c.*748A>C (n.*748A>C)
c.1479A>C (p.Pro493=)
c.1542A>C (p.Pro514=)
n.475A>C
c.1545A>C (p.Pro515=)
c.1473A>C (p.Pro491=)
c.1437A>C (p.Pro479=)
c.1434A>C (p.Pro478=)
c.864A>C (p.Pro288=)
n.1772-2934T>G
c.1389A>C (p.Pro463=)
c.897A>C (p.Pro299=)
2g.27364490_27364491delinsTGCA1240242798EIF2B4,GTF3C2-AS2c.1481_1482delinsCA (p.Pro494=)
c.*747_*748delinsCA (n.*747_*748delinsCA)
c.1478_1479delinsCA (p.Pro493=)
c.1541_1542delinsCA (p.Pro514=)
n.474_475delinsCA
c.1544_1545delinsCA (p.Pro515=)
c.1472_1473delinsCA (p.Pro491=)
c.1436_1437delinsCA (p.Pro479=)
c.1433_1434delinsCA (p.Pro478=)
c.863_864delinsCA (p.Pro288=)
n.1772-2934_1772-2933delinsTG
c.1388_1389delinsCA (p.Pro463=)
c.896_897delinsCA (p.Pro299=)
2g.27364491G>ACA346196590EIF2B4,GTF3C2-AS2c.1481C>T (p.Pro494Leu)
c.*747C>T (n.*747C>T)
c.1478C>T (p.Pro493Leu)
c.1541C>T (p.Pro514Leu)
n.474C>T
c.1544C>T (p.Pro515Leu)
c.1472C>T (p.Pro491Leu)
c.1436C>T (p.Pro479Leu)
c.1433C>T (p.Pro478Leu)
c.863C>T (p.Pro288Leu)
n.1772-2933G>A
c.1388C>T (p.Pro463Leu)
c.896C>T (p.Pro299Leu)
 dbSNP
2g.27364491G>CCA346196591EIF2B4,GTF3C2-AS2c.1481C>G (p.Pro494Arg)
c.*747C>G (n.*747C>G)
c.1478C>G (p.Pro493Arg)
c.1541C>G (p.Pro514Arg)
n.474C>G
c.1544C>G (p.Pro515Arg)
c.1472C>G (p.Pro491Arg)
c.1436C>G (p.Pro479Arg)
c.1433C>G (p.Pro478Arg)
c.863C>G (p.Pro288Arg)
n.1772-2933G>C
c.1388C>G (p.Pro463Arg)
c.896C>G (p.Pro299Arg)
2g.27364491G=CA1240242799EIF2B4,GTF3C2-AS2c.1481C= (p.Pro494=)
c.*747C= (n.*747C=)
c.1478C= (p.Pro493=)
c.1541C= (p.Pro514=)
n.474C=
c.1544C= (p.Pro515=)
c.1472C= (p.Pro491=)
c.1436C= (p.Pro479=)
c.1433C= (p.Pro478=)
c.863C= (p.Pro288=)
n.1772-2933G=
c.1388C= (p.Pro463=)
c.896C= (p.Pro299=)
2g.27364491G>TCA346196589EIF2B4,GTF3C2-AS2c.1481C>A (p.Pro494Gln)
c.*747C>A (n.*747C>A)
c.1478C>A (p.Pro493Gln)
c.1541C>A (p.Pro514Gln)
n.474C>A
c.1544C>A (p.Pro515Gln)
c.1472C>A (p.Pro491Gln)
c.1436C>A (p.Pro479Gln)
c.1433C>A (p.Pro478Gln)
c.863C>A (p.Pro288Gln)
n.1772-2933G>T
c.1388C>A (p.Pro463Gln)
c.896C>A (p.Pro299Gln)
2g.27364495delCA645539327EIF2B4,GTF3C2-AS2c.1481del (p.Pro494GlnfsTer7)
c.*747del (n.*747del)
c.1478del (p.Pro493GlnfsTer7)
c.1541del (p.Pro514GlnfsTer7)
n.474del
c.1544del (p.Pro515GlnfsTer7)
c.1472del (p.Pro491GlnfsTer7)
c.1436del (p.Pro479GlnfsTer7)
c.1433del (p.Pro478GlnfsTer7)
c.863del (p.Pro288GlnfsTer7)
n.1772-2929del
c.1388del (p.Pro463GlnfsTer7)
c.896del (p.Pro299GlnfsTer7)
 dbSNP COSMIC COSMIC
2g.27364492G>ACA346196594EIF2B4,GTF3C2-AS2c.1480C>T (p.Pro494Ser)
c.*746C>T (n.*746C>T)
c.1477C>T (p.Pro493Ser)
c.1540C>T (p.Pro514Ser)
n.473C>T
c.1543C>T (p.Pro515Ser)
c.1471C>T (p.Pro491Ser)
c.1435C>T (p.Pro479Ser)
c.1432C>T (p.Pro478Ser)
c.862C>T (p.Pro288Ser)
n.1772-2932G>A
c.1387C>T (p.Pro463Ser)
c.895C>T (p.Pro299Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.27364492G>CCA346196592EIF2B4,GTF3C2-AS2c.1480C>G (p.Pro494Ala)
c.*746C>G (n.*746C>G)
c.1477C>G (p.Pro493Ala)
c.1540C>G (p.Pro514Ala)
n.473C>G
c.1543C>G (p.Pro515Ala)
c.1471C>G (p.Pro491Ala)
c.1435C>G (p.Pro479Ala)
c.1432C>G (p.Pro478Ala)
c.862C>G (p.Pro288Ala)
n.1772-2932G>C
c.1387C>G (p.Pro463Ala)
c.895C>G (p.Pro299Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27364492G=CA1240242800EIF2B4,GTF3C2-AS2c.1480C= (p.Pro494=)
c.*746C= (n.*746C=)
c.1477C= (p.Pro493=)
c.1540C= (p.Pro514=)
n.473C=
c.1543C= (p.Pro515=)
c.1471C= (p.Pro491=)
c.1435C= (p.Pro479=)
c.1432C= (p.Pro478=)
c.862C= (p.Pro288=)
n.1772-2932G=
c.1387C= (p.Pro463=)
c.895C= (p.Pro299=)
2g.27364492G>TCA346196593EIF2B4,GTF3C2-AS2c.1480C>A (p.Pro494Thr)
c.*746C>A (n.*746C>A)
c.1477C>A (p.Pro493Thr)
c.1540C>A (p.Pro514Thr)
n.473C>A
c.1543C>A (p.Pro515Thr)
c.1471C>A (p.Pro491Thr)
c.1435C>A (p.Pro479Thr)
c.1432C>A (p.Pro478Thr)
c.862C>A (p.Pro288Thr)
n.1772-2932G>T
c.1387C>A (p.Pro463Thr)
c.895C>A (p.Pro299Thr)
2g.27364493G>ACA425409761EIF2B4,GTF3C2-AS2c.1479C>T (p.Pro493=)
c.*745C>T (n.*745C>T)
c.1476C>T (p.Pro492=)
c.1539C>T (p.Pro513=)
n.472C>T
c.1542C>T (p.Pro514=)
c.1470C>T (p.Pro490=)
c.1434C>T (p.Pro478=)
c.1431C>T (p.Pro477=)
c.861C>T (p.Pro287=)
n.1772-2931G>A
c.1386C>T (p.Pro462=)
c.894C>T (p.Pro298=)
2g.27364493G>CCA425409762EIF2B4,GTF3C2-AS2c.1479C>G (p.Pro493=)
c.*745C>G (n.*745C>G)
c.1476C>G (p.Pro492=)
c.1539C>G (p.Pro513=)
n.472C>G
c.1542C>G (p.Pro514=)
c.1470C>G (p.Pro490=)
c.1434C>G (p.Pro478=)
c.1431C>G (p.Pro477=)
c.861C>G (p.Pro287=)
n.1772-2931G>C
c.1386C>G (p.Pro462=)
c.894C>G (p.Pro298=)
2g.27364493G=CA1240242801EIF2B4,GTF3C2-AS2c.1479C= (p.Pro493=)
c.*745C= (n.*745C=)
c.1476C= (p.Pro492=)
c.1539C= (p.Pro513=)
n.472C=
c.1542C= (p.Pro514=)
c.1470C= (p.Pro490=)
c.1434C= (p.Pro478=)
c.1431C= (p.Pro477=)
c.861C= (p.Pro287=)
n.1772-2931G=
c.1386C= (p.Pro462=)
c.894C= (p.Pro298=)
2g.27364493G>TCA1576562EIF2B4,GTF3C2-AS2c.1479C>A (p.Pro493=)
c.*745C>A (n.*745C>A)
c.1476C>A (p.Pro492=)
c.1539C>A (p.Pro513=)
n.472C>A
c.1542C>A (p.Pro514=)
c.1470C>A (p.Pro490=)
c.1434C>A (p.Pro478=)
c.1431C>A (p.Pro477=)
c.861C>A (p.Pro287=)
n.1772-2931G>T
c.1386C>A (p.Pro462=)
c.894C>A (p.Pro298=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364494G>ACA346196595EIF2B4,GTF3C2-AS2c.1478C>T (p.Pro493Leu)
c.*744C>T (n.*744C>T)
c.1475C>T (p.Pro492Leu)
c.1538C>T (p.Pro513Leu)
n.471C>T
c.1541C>T (p.Pro514Leu)
c.1469C>T (p.Pro490Leu)
c.1433C>T (p.Pro478Leu)
c.1430C>T (p.Pro477Leu)
c.860C>T (p.Pro287Leu)
n.1772-2930G>A
c.1385C>T (p.Pro462Leu)
c.893C>T (p.Pro298Leu)
2g.27364494G>CCA346196596EIF2B4,GTF3C2-AS2c.1478C>G (p.Pro493Arg)
c.*744C>G (n.*744C>G)
c.1475C>G (p.Pro492Arg)
c.1538C>G (p.Pro513Arg)
n.471C>G
c.1541C>G (p.Pro514Arg)
c.1469C>G (p.Pro490Arg)
c.1433C>G (p.Pro478Arg)
c.1430C>G (p.Pro477Arg)
c.860C>G (p.Pro287Arg)
n.1772-2930G>C
c.1385C>G (p.Pro462Arg)
c.893C>G (p.Pro298Arg)
2g.27364494G=CA1240242802EIF2B4,GTF3C2-AS2c.1478C= (p.Pro493=)
c.*744C= (n.*744C=)
c.1475C= (p.Pro492=)
c.1538C= (p.Pro513=)
n.471C=
c.1541C= (p.Pro514=)
c.1469C= (p.Pro490=)
c.1433C= (p.Pro478=)
c.1430C= (p.Pro477=)
c.860C= (p.Pro287=)
n.1772-2930G=
c.1385C= (p.Pro462=)
c.893C= (p.Pro298=)
2g.27364494G>TCA1576563EIF2B4,GTF3C2-AS2c.1478C>A (p.Pro493His)
c.*744C>A (n.*744C>A)
c.1475C>A (p.Pro492His)
c.1538C>A (p.Pro513His)
n.471C>A
c.1541C>A (p.Pro514His)
c.1469C>A (p.Pro490His)
c.1433C>A (p.Pro478His)
c.1430C>A (p.Pro477His)
c.860C>A (p.Pro287His)
n.1772-2930G>T
c.1385C>A (p.Pro462His)
c.893C>A (p.Pro298His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364495G>ACA1576565EIF2B4,GTF3C2-AS2c.1477C>T (p.Pro493Ser)
c.*743C>T (n.*743C>T)
c.1474C>T (p.Pro492Ser)
c.1537C>T (p.Pro513Ser)
n.470C>T
c.1540C>T (p.Pro514Ser)
c.1468C>T (p.Pro490Ser)
c.1432C>T (p.Pro478Ser)
c.1429C>T (p.Pro477Ser)
c.859C>T (p.Pro287Ser)
n.1772-2929G>A
c.1384C>T (p.Pro462Ser)
c.892C>T (p.Pro298Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364495G>CCA346196597EIF2B4,GTF3C2-AS2c.1477C>G (p.Pro493Ala)
c.*743C>G (n.*743C>G)
c.1474C>G (p.Pro492Ala)
c.1537C>G (p.Pro513Ala)
n.470C>G
c.1540C>G (p.Pro514Ala)
c.1468C>G (p.Pro490Ala)
c.1432C>G (p.Pro478Ala)
c.1429C>G (p.Pro477Ala)
c.859C>G (p.Pro287Ala)
n.1772-2929G>C
c.1384C>G (p.Pro462Ala)
c.892C>G (p.Pro298Ala)
2g.27364495G=CA1240242803EIF2B4,GTF3C2-AS2c.1477C= (p.Pro493=)
c.*743C= (n.*743C=)
c.1474C= (p.Pro492=)
c.1537C= (p.Pro513=)
n.470C=
c.1540C= (p.Pro514=)
c.1468C= (p.Pro490=)
c.1432C= (p.Pro478=)
c.1429C= (p.Pro477=)
c.859C= (p.Pro287=)
n.1772-2929G=
c.1384C= (p.Pro462=)
c.892C= (p.Pro298=)
2g.27364495G>TCA1576564EIF2B4,GTF3C2-AS2c.1477C>A (p.Pro493Thr)
c.*743C>A (n.*743C>A)
c.1474C>A (p.Pro492Thr)
c.1537C>A (p.Pro513Thr)
n.470C>A
c.1540C>A (p.Pro514Thr)
c.1468C>A (p.Pro490Thr)
c.1432C>A (p.Pro478Thr)
c.1429C>A (p.Pro477Thr)
c.859C>A (p.Pro287Thr)
n.1772-2929G>T
c.1384C>A (p.Pro462Thr)
c.892C>A (p.Pro298Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364496A=CA1240242804EIF2B4,GTF3C2-AS2c.1476T= (p.Thr492=)
c.*742T= (n.*742T=)
c.1473T= (p.Thr491=)
c.1536T= (p.Thr512=)
n.469T=
c.1539T= (p.Thr513=)
c.1467T= (p.Thr489=)
c.1431T= (p.Thr477=)
c.1428T= (p.Thr476=)
c.858T= (p.Thr286=)
n.1772-2928A=
c.1383T= (p.Thr461=)
c.891T= (p.Thr297=)
2g.27364496A>CCA425409763EIF2B4,GTF3C2-AS2c.1476T>G (p.Thr492=)
c.*742T>G (n.*742T>G)
c.1473T>G (p.Thr491=)
c.1536T>G (p.Thr512=)
n.469T>G
c.1539T>G (p.Thr513=)
c.1467T>G (p.Thr489=)
c.1431T>G (p.Thr477=)
c.1428T>G (p.Thr476=)
c.858T>G (p.Thr286=)
n.1772-2928A>C
c.1383T>G (p.Thr461=)
c.891T>G (p.Thr297=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27364496A>GCA425409764EIF2B4,GTF3C2-AS2c.1476T>C (p.Thr492=)
c.*742T>C (n.*742T>C)
c.1473T>C (p.Thr491=)
c.1536T>C (p.Thr512=)
n.469T>C
c.1539T>C (p.Thr513=)
c.1467T>C (p.Thr489=)
c.1431T>C (p.Thr477=)
c.1428T>C (p.Thr476=)
c.858T>C (p.Thr286=)
n.1772-2928A>G
c.1383T>C (p.Thr461=)
c.891T>C (p.Thr297=)
2g.27364496A>TCA425409765EIF2B4,GTF3C2-AS2c.1476T>A (p.Thr492=)
c.*742T>A (n.*742T>A)
c.1473T>A (p.Thr491=)
c.1536T>A (p.Thr512=)
n.469T>A
c.1539T>A (p.Thr513=)
c.1467T>A (p.Thr489=)
c.1431T>A (p.Thr477=)
c.1428T>A (p.Thr476=)
c.858T>A (p.Thr286=)
n.1772-2928A>T
c.1383T>A (p.Thr461=)
c.891T>A (p.Thr297=)
2g.27364497G>ACA346196598EIF2B4,GTF3C2-AS2c.1475C>T (p.Thr492Ile)
c.*741C>T (n.*741C>T)
c.1472C>T (p.Thr491Ile)
c.1535C>T (p.Thr512Ile)
n.468C>T
c.1538C>T (p.Thr513Ile)
c.1466C>T (p.Thr489Ile)
c.1430C>T (p.Thr477Ile)
c.1427C>T (p.Thr476Ile)
c.857C>T (p.Thr286Ile)
n.1772-2927G>A
c.1382C>T (p.Thr461Ile)
c.890C>T (p.Thr297Ile)
 gnomAD v4
2g.27364497G>CCA346196599EIF2B4,GTF3C2-AS2c.1475C>G (p.Thr492Ser)
c.*741C>G (n.*741C>G)
c.1472C>G (p.Thr491Ser)
c.1535C>G (p.Thr512Ser)
n.468C>G
c.1538C>G (p.Thr513Ser)
c.1466C>G (p.Thr489Ser)
c.1430C>G (p.Thr477Ser)
c.1427C>G (p.Thr476Ser)
c.857C>G (p.Thr286Ser)
n.1772-2927G>C
c.1382C>G (p.Thr461Ser)
c.890C>G (p.Thr297Ser)
2g.27364497G>TCA346196600EIF2B4,GTF3C2-AS2c.1475C>A (p.Thr492Asn)
c.*741C>A (n.*741C>A)
c.1472C>A (p.Thr491Asn)
c.1535C>A (p.Thr512Asn)
n.468C>A
c.1538C>A (p.Thr513Asn)
c.1466C>A (p.Thr489Asn)
c.1430C>A (p.Thr477Asn)
c.1427C>A (p.Thr476Asn)
c.857C>A (p.Thr286Asn)
n.1772-2927G>T
c.1382C>A (p.Thr461Asn)
c.890C>A (p.Thr297Asn)
2g.27364498T>ACA346196603EIF2B4,GTF3C2-AS2c.1474A>T (p.Thr492Ser)
c.*740A>T (n.*740A>T)
c.1471A>T (p.Thr491Ser)
c.1534A>T (p.Thr512Ser)
n.467A>T
c.1537A>T (p.Thr513Ser)
c.1465A>T (p.Thr489Ser)
c.1429A>T (p.Thr477Ser)
c.1426A>T (p.Thr476Ser)
c.856A>T (p.Thr286Ser)
n.1772-2926T>A
c.1381A>T (p.Thr461Ser)
c.889A>T (p.Thr297Ser)
2g.27364498T>CCA346196602EIF2B4,GTF3C2-AS2c.1474A>G (p.Thr492Ala)
c.*740A>G (n.*740A>G)
c.1471A>G (p.Thr491Ala)
c.1534A>G (p.Thr512Ala)
n.467A>G
c.1537A>G (p.Thr513Ala)
c.1465A>G (p.Thr489Ala)
c.1429A>G (p.Thr477Ala)
c.1426A>G (p.Thr476Ala)
c.856A>G (p.Thr286Ala)
n.1772-2926T>C
c.1381A>G (p.Thr461Ala)
c.889A>G (p.Thr297Ala)
 gnomAD v4
2g.27364498T>GCA346196601EIF2B4,GTF3C2-AS2c.1474A>C (p.Thr492Pro)
c.*740A>C (n.*740A>C)
c.1471A>C (p.Thr491Pro)
c.1534A>C (p.Thr512Pro)
n.467A>C
c.1537A>C (p.Thr513Pro)
c.1465A>C (p.Thr489Pro)
c.1429A>C (p.Thr477Pro)
c.1426A>C (p.Thr476Pro)
c.856A>C (p.Thr286Pro)
n.1772-2926T>G
c.1381A>C (p.Thr461Pro)
c.889A>C (p.Thr297Pro)
 gnomAD v4
2g.27364499C>ACA425409766EIF2B4,GTF3C2-AS2c.1473G>T (p.Val491=)
c.*739G>T (n.*739G>T)
c.1470G>T (p.Val490=)
c.1533G>T (p.Val511=)
n.466G>T
c.1536G>T (p.Val512=)
c.1464G>T (p.Val488=)
c.1428G>T (p.Val476=)
c.1425G>T (p.Val475=)
c.855G>T (p.Val285=)
n.1772-2925C>A
c.1380G>T (p.Val460=)
c.888G>T (p.Val296=)
2g.27364499C=CA1240242805EIF2B4,GTF3C2-AS2c.1473G= (p.Val491=)
c.*739G= (n.*739G=)
c.1470G= (p.Val490=)
c.1533G= (p.Val511=)
n.466G=
c.1536G= (p.Val512=)
c.1464G= (p.Val488=)
c.1428G= (p.Val476=)
c.1425G= (p.Val475=)
c.855G= (p.Val285=)
n.1772-2925C=
c.1380G= (p.Val460=)
c.888G= (p.Val296=)
2g.27364499C>GCA425409767EIF2B4,GTF3C2-AS2c.1473G>C (p.Val491=)
c.*739G>C (n.*739G>C)
c.1470G>C (p.Val490=)
c.1533G>C (p.Val511=)
n.466G>C
c.1536G>C (p.Val512=)
c.1464G>C (p.Val488=)
c.1428G>C (p.Val476=)
c.1425G>C (p.Val475=)
c.855G>C (p.Val285=)
n.1772-2925C>G
c.1380G>C (p.Val460=)
c.888G>C (p.Val296=)
2g.27364499C>TCA425409768EIF2B4,GTF3C2-AS2c.1473G>A (p.Val491=)
c.*739G>A (n.*739G>A)
c.1470G>A (p.Val490=)
c.1533G>A (p.Val511=)
n.466G>A
c.1536G>A (p.Val512=)
c.1464G>A (p.Val488=)
c.1428G>A (p.Val476=)
c.1425G>A (p.Val475=)
c.855G>A (p.Val285=)
n.1772-2925C>T
c.1380G>A (p.Val460=)
c.888G>A (p.Val296=)
 dbSNP
2g.27364500A>CCA346196604EIF2B4,GTF3C2-AS2c.1472T>G (p.Val491Gly)
c.*738T>G (n.*738T>G)
c.1469T>G (p.Val490Gly)
c.1532T>G (p.Val511Gly)
n.465T>G
c.1535T>G (p.Val512Gly)
c.1463T>G (p.Val488Gly)
c.1427T>G (p.Val476Gly)
c.1424T>G (p.Val475Gly)
c.854T>G (p.Val285Gly)
n.1772-2924A>C
c.1379T>G (p.Val460Gly)
c.887T>G (p.Val296Gly)
2g.27364500A>GCA346196605EIF2B4,GTF3C2-AS2c.1472T>C (p.Val491Ala)
c.*738T>C (n.*738T>C)
c.1469T>C (p.Val490Ala)
c.1532T>C (p.Val511Ala)
n.465T>C
c.1535T>C (p.Val512Ala)
c.1463T>C (p.Val488Ala)
c.1427T>C (p.Val476Ala)
c.1424T>C (p.Val475Ala)
c.854T>C (p.Val285Ala)
n.1772-2924A>G
c.1379T>C (p.Val460Ala)
c.887T>C (p.Val296Ala)
2g.27364500A>TCA346196606EIF2B4,GTF3C2-AS2c.1472T>A (p.Val491Glu)
c.*738T>A (n.*738T>A)
c.1469T>A (p.Val490Glu)
c.1532T>A (p.Val511Glu)
n.465T>A
c.1535T>A (p.Val512Glu)
c.1463T>A (p.Val488Glu)
c.1427T>A (p.Val476Glu)
c.1424T>A (p.Val475Glu)
c.854T>A (p.Val285Glu)
n.1772-2924A>T
c.1379T>A (p.Val460Glu)
c.887T>A (p.Val296Glu)
2g.27364501C>ACA346196607EIF2B4,GTF3C2-AS2c.1471G>T (p.Val491Leu)
c.*737G>T (n.*737G>T)
c.1468G>T (p.Val490Leu)
c.1531G>T (p.Val511Leu)
n.464G>T
c.1534G>T (p.Val512Leu)
c.1462G>T (p.Val488Leu)
c.1426G>T (p.Val476Leu)
c.1423G>T (p.Val475Leu)
c.853G>T (p.Val285Leu)
n.1772-2923C>A
c.1378G>T (p.Val460Leu)
c.886G>T (p.Val296Leu)
2g.27364501C=CA1240242806EIF2B4,GTF3C2-AS2c.1471G= (p.Val491=)
c.*737G= (n.*737G=)
c.1468G= (p.Val490=)
c.1531G= (p.Val511=)
n.464G=
c.1534G= (p.Val512=)
c.1462G= (p.Val488=)
c.1426G= (p.Val476=)
c.1423G= (p.Val475=)
c.853G= (p.Val285=)
n.1772-2923C=
c.1378G= (p.Val460=)
c.886G= (p.Val296=)
2g.27364501C>GCA346196608EIF2B4,GTF3C2-AS2c.1471G>C (p.Val491Leu)
c.*737G>C (n.*737G>C)
c.1468G>C (p.Val490Leu)
c.1531G>C (p.Val511Leu)
n.464G>C
c.1534G>C (p.Val512Leu)
c.1462G>C (p.Val488Leu)
c.1426G>C (p.Val476Leu)
c.1423G>C (p.Val475Leu)
c.853G>C (p.Val285Leu)
n.1772-2923C>G
c.1378G>C (p.Val460Leu)
c.886G>C (p.Val296Leu)
2g.27364501C>TCA1576566EIF2B4,GTF3C2-AS2c.1471G>A (p.Val491Met)
c.*737G>A (n.*737G>A)
c.1468G>A (p.Val490Met)
c.1531G>A (p.Val511Met)
n.464G>A
c.1534G>A (p.Val512Met)
c.1462G>A (p.Val488Met)
c.1426G>A (p.Val476Met)
c.1423G>A (p.Val475Met)
c.853G>A (p.Val285Met)
n.1772-2923C>T
c.1378G>A (p.Val460Met)
c.886G>A (p.Val296Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364502A=CA1240242807EIF2B4,GTF3C2-AS2c.1470T= (p.Asp490=)
c.*736T= (n.*736T=)
c.1467T= (p.Asp489=)
c.1530T= (p.Asp510=)
n.463T=
c.1533T= (p.Asp511=)
c.1461T= (p.Asp487=)
c.1425T= (p.Asp475=)
c.1422T= (p.Asp474=)
c.852T= (p.Asp284=)
n.1772-2922A=
c.1377T= (p.Asp459=)
c.885T= (p.Asp295=)
2g.27364502A>CCA346196609EIF2B4,GTF3C2-AS2c.1470T>G (p.Asp490Glu)
c.*736T>G (n.*736T>G)
c.1467T>G (p.Asp489Glu)
c.1530T>G (p.Asp510Glu)
n.463T>G
c.1533T>G (p.Asp511Glu)
c.1461T>G (p.Asp487Glu)
c.1425T>G (p.Asp475Glu)
c.1422T>G (p.Asp474Glu)
c.852T>G (p.Asp284Glu)
n.1772-2922A>C
c.1377T>G (p.Asp459Glu)
c.885T>G (p.Asp295Glu)
2g.27364502A>GCA1576567EIF2B4,GTF3C2-AS2c.1470T>C (p.Asp490=)
c.*736T>C (n.*736T>C)
c.1467T>C (p.Asp489=)
c.1530T>C (p.Asp510=)
n.463T>C
c.1533T>C (p.Asp511=)
c.1461T>C (p.Asp487=)
c.1425T>C (p.Asp475=)
c.1422T>C (p.Asp474=)
c.852T>C (p.Asp284=)
n.1772-2922A>G
c.1377T>C (p.Asp459=)
c.885T>C (p.Asp295=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364502A>TCA346196610EIF2B4,GTF3C2-AS2c.1470T>A (p.Asp490Glu)
c.*736T>A (n.*736T>A)
c.1467T>A (p.Asp489Glu)
c.1530T>A (p.Asp510Glu)
n.463T>A
c.1533T>A (p.Asp511Glu)
c.1461T>A (p.Asp487Glu)
c.1425T>A (p.Asp475Glu)
c.1422T>A (p.Asp474Glu)
c.852T>A (p.Asp284Glu)
n.1772-2922A>T
c.1377T>A (p.Asp459Glu)
c.885T>A (p.Asp295Glu)
2g.27364503T>ACA346196611EIF2B4,GTF3C2-AS2c.1469A>T (p.Asp490Val)
c.*735A>T (n.*735A>T)
c.1466A>T (p.Asp489Val)
c.1529A>T (p.Asp510Val)
n.462A>T
c.1532A>T (p.Asp511Val)
c.1460A>T (p.Asp487Val)
c.1424A>T (p.Asp475Val)
c.1421A>T (p.Asp474Val)
c.851A>T (p.Asp284Val)
n.1772-2921T>A
c.1376A>T (p.Asp459Val)
c.884A>T (p.Asp295Val)
2g.27364503T>CCA346196612EIF2B4,GTF3C2-AS2c.1469A>G (p.Asp490Gly)
c.*735A>G (n.*735A>G)
c.1466A>G (p.Asp489Gly)
c.1529A>G (p.Asp510Gly)
n.462A>G
c.1532A>G (p.Asp511Gly)
c.1460A>G (p.Asp487Gly)
c.1424A>G (p.Asp475Gly)
c.1421A>G (p.Asp474Gly)
c.851A>G (p.Asp284Gly)
n.1772-2921T>C
c.1376A>G (p.Asp459Gly)
c.884A>G (p.Asp295Gly)
2g.27364503T>GCA346196613EIF2B4,GTF3C2-AS2c.1469A>C (p.Asp490Ala)
c.*735A>C (n.*735A>C)
c.1466A>C (p.Asp489Ala)
c.1529A>C (p.Asp510Ala)
n.462A>C
c.1532A>C (p.Asp511Ala)
c.1460A>C (p.Asp487Ala)
c.1424A>C (p.Asp475Ala)
c.1421A>C (p.Asp474Ala)
c.851A>C (p.Asp284Ala)
n.1772-2921T>G
c.1376A>C (p.Asp459Ala)
c.884A>C (p.Asp295Ala)
 COSMIC COSMIC
2g.27364504C>ACA346196616EIF2B4,GTF3C2-AS2c.1468G>T (p.Asp490Tyr)
c.*734G>T (n.*734G>T)
c.1465G>T (p.Asp489Tyr)
c.1528G>T (p.Asp510Tyr)
n.461G>T
c.1531G>T (p.Asp511Tyr)
c.1459G>T (p.Asp487Tyr)
c.1423G>T (p.Asp475Tyr)
c.1420G>T (p.Asp474Tyr)
c.850G>T (p.Asp284Tyr)
n.1772-2920C>A
c.1375G>T (p.Asp459Tyr)
c.883G>T (p.Asp295Tyr)
2g.27364504C>GCA346196615EIF2B4,GTF3C2-AS2c.1468G>C (p.Asp490His)
c.*734G>C (n.*734G>C)
c.1465G>C (p.Asp489His)
c.1528G>C (p.Asp510His)
n.461G>C
c.1531G>C (p.Asp511His)
c.1459G>C (p.Asp487His)
c.1423G>C (p.Asp475His)
c.1420G>C (p.Asp474His)
c.850G>C (p.Asp284His)
n.1772-2920C>G
c.1375G>C (p.Asp459His)
c.883G>C (p.Asp295His)
2g.27364504C>TCA346196614EIF2B4,GTF3C2-AS2c.1468G>A (p.Asp490Asn)
c.*734G>A (n.*734G>A)
c.1465G>A (p.Asp489Asn)
c.1528G>A (p.Asp510Asn)
n.461G>A
c.1531G>A (p.Asp511Asn)
c.1459G>A (p.Asp487Asn)
c.1423G>A (p.Asp475Asn)
c.1420G>A (p.Asp474Asn)
c.850G>A (p.Asp284Asn)
n.1772-2920C>T
c.1375G>A (p.Asp459Asn)
c.883G>A (p.Asp295Asn)
2g.27364505A>CCA346196617EIF2B4,GTF3C2-AS2c.1467T>G (p.Tyr489Ter)
c.*733T>G (n.*733T>G)
c.1464T>G (p.Tyr488Ter)
c.1527T>G (p.Tyr509Ter)
n.460T>G
c.1530T>G (p.Tyr510Ter)
c.1458T>G (p.Tyr486Ter)
c.1422T>G (p.Tyr474Ter)
c.1419T>G (p.Tyr473Ter)
c.849T>G (p.Tyr283Ter)
n.1772-2919A>C
c.1374T>G (p.Tyr458Ter)
c.882T>G (p.Tyr294Ter)
2g.27364505A>GCA425409769EIF2B4,GTF3C2-AS2c.1467T>C (p.Tyr489=)
c.*733T>C (n.*733T>C)
c.1464T>C (p.Tyr488=)
c.1527T>C (p.Tyr509=)
n.460T>C
c.1530T>C (p.Tyr510=)
c.1458T>C (p.Tyr486=)
c.1422T>C (p.Tyr474=)
c.1419T>C (p.Tyr473=)
c.849T>C (p.Tyr283=)
n.1772-2919A>G
c.1374T>C (p.Tyr458=)
c.882T>C (p.Tyr294=)
2g.27364505A>TCA346196618EIF2B4,GTF3C2-AS2c.1467T>A (p.Tyr489Ter)
c.*733T>A (n.*733T>A)
c.1464T>A (p.Tyr488Ter)
c.1527T>A (p.Tyr509Ter)
n.460T>A
c.1530T>A (p.Tyr510Ter)
c.1458T>A (p.Tyr486Ter)
c.1422T>A (p.Tyr474Ter)
c.1419T>A (p.Tyr473Ter)
c.849T>A (p.Tyr283Ter)
n.1772-2919A>T
c.1374T>A (p.Tyr458Ter)
c.882T>A (p.Tyr294Ter)
2g.27364506T>ACA346196619EIF2B4,GTF3C2-AS2c.1466A>T (p.Tyr489Phe)
c.*732A>T (n.*732A>T)
c.1463A>T (p.Tyr488Phe)
c.1526A>T (p.Tyr509Phe)
n.459A>T
c.1529A>T (p.Tyr510Phe)
c.1457A>T (p.Tyr486Phe)
c.1421A>T (p.Tyr474Phe)
c.1418A>T (p.Tyr473Phe)
c.848A>T (p.Tyr283Phe)
n.1772-2918T>A
c.1373A>T (p.Tyr458Phe)
c.881A>T (p.Tyr294Phe)
2g.27364506T>CCA346196620EIF2B4,GTF3C2-AS2c.1466A>G (p.Tyr489Cys)
c.*732A>G (n.*732A>G)
c.1463A>G (p.Tyr488Cys)
c.1526A>G (p.Tyr509Cys)
n.459A>G
c.1529A>G (p.Tyr510Cys)
c.1457A>G (p.Tyr486Cys)
c.1421A>G (p.Tyr474Cys)
c.1418A>G (p.Tyr473Cys)
c.848A>G (p.Tyr283Cys)
n.1772-2918T>C
c.1373A>G (p.Tyr458Cys)
c.881A>G (p.Tyr294Cys)
 gnomAD v4
2g.27364506T>GCA346196621EIF2B4,GTF3C2-AS2c.1466A>C (p.Tyr489Ser)
c.*732A>C (n.*732A>C)
c.1463A>C (p.Tyr488Ser)
c.1526A>C (p.Tyr509Ser)
n.459A>C
c.1529A>C (p.Tyr510Ser)
c.1457A>C (p.Tyr486Ser)
c.1421A>C (p.Tyr474Ser)
c.1418A>C (p.Tyr473Ser)
c.848A>C (p.Tyr283Ser)
n.1772-2918T>G
c.1373A>C (p.Tyr458Ser)
c.881A>C (p.Tyr294Ser)
2g.27364507A=CA1240242808EIF2B4,GTF3C2-AS2c.1465T= (p.Tyr489=)
c.*731T= (n.*731T=)
c.1462T= (p.Tyr488=)
c.1525T= (p.Tyr509=)
n.458T=
c.1528T= (p.Tyr510=)
c.1456T= (p.Tyr486=)
c.1420T= (p.Tyr474=)
c.1417T= (p.Tyr473=)
c.847T= (p.Tyr283=)
n.1772-2917A=
c.1372T= (p.Tyr458=)
c.880T= (p.Tyr294=)
2g.27364507A>CCA346196622EIF2B4,GTF3C2-AS2c.1465T>G (p.Tyr489Asp)
c.*731T>G (n.*731T>G)
c.1462T>G (p.Tyr488Asp)
c.1525T>G (p.Tyr509Asp)
n.458T>G
c.1528T>G (p.Tyr510Asp)
c.1456T>G (p.Tyr486Asp)
c.1420T>G (p.Tyr474Asp)
c.1417T>G (p.Tyr473Asp)
c.847T>G (p.Tyr283Asp)
n.1772-2917A>C
c.1372T>G (p.Tyr458Asp)
c.880T>G (p.Tyr294Asp)
2g.27364507A>GCA116653EIF2B4,GTF3C2-AS2c.1465T>C (p.Tyr489His)
c.*731T>C (n.*731T>C)
c.1462T>C (p.Tyr488His)
c.1525T>C (p.Tyr509His)
n.458T>C
c.1528T>C (p.Tyr510His)
c.1456T>C (p.Tyr486His)
c.1420T>C (p.Tyr474His)
c.1417T>C (p.Tyr473His)
c.847T>C (p.Tyr283His)
n.1772-2917A>G
c.1372T>C (p.Tyr458His)
c.880T>C (p.Tyr294His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364507A>TCA346196623EIF2B4,GTF3C2-AS2c.1465T>A (p.Tyr489Asn)
c.*731T>A (n.*731T>A)
c.1462T>A (p.Tyr488Asn)
c.1525T>A (p.Tyr509Asn)
n.458T>A
c.1528T>A (p.Tyr510Asn)
c.1456T>A (p.Tyr486Asn)
c.1420T>A (p.Tyr474Asn)
c.1417T>A (p.Tyr473Asn)
c.847T>A (p.Tyr283Asn)
n.1772-2917A>T
c.1372T>A (p.Tyr458Asn)
c.880T>A (p.Tyr294Asn)
2g.27364508G>ACA44509150EIF2B4,GTF3C2-AS2c.1464C>T (p.Val488=)
c.*730C>T (n.*730C>T)
c.1461C>T (p.Val487=)
c.1524C>T (p.Val508=)
n.457C>T
c.1527C>T (p.Val509=)
c.1455C>T (p.Val485=)
c.1419C>T (p.Val473=)
c.1416C>T (p.Val472=)
c.846C>T (p.Val282=)
n.1772-2916G>A
c.1371C>T (p.Val457=)
c.879C>T (p.Val293=)
 dbSNP
2g.27364508G>CCA425409770EIF2B4,GTF3C2-AS2c.1464C>G (p.Val488=)
c.*730C>G (n.*730C>G)
c.1461C>G (p.Val487=)
c.1524C>G (p.Val508=)
n.457C>G
c.1527C>G (p.Val509=)
c.1455C>G (p.Val485=)
c.1419C>G (p.Val473=)
c.1416C>G (p.Val472=)
c.846C>G (p.Val282=)
n.1772-2916G>C
c.1371C>G (p.Val457=)
c.879C>G (p.Val293=)
2g.27364508G=CA1240242809EIF2B4,GTF3C2-AS2c.1464C= (p.Val488=)
c.*730C= (n.*730C=)
c.1461C= (p.Val487=)
c.1524C= (p.Val508=)
n.457C=
c.1527C= (p.Val509=)
c.1455C= (p.Val485=)
c.1419C= (p.Val473=)
c.1416C= (p.Val472=)
c.846C= (p.Val282=)
n.1772-2916G=
c.1371C= (p.Val457=)
c.879C= (p.Val293=)
2g.27364508G>TCA425409771EIF2B4,GTF3C2-AS2c.1464C>A (p.Val488=)
c.*730C>A (n.*730C>A)
c.1461C>A (p.Val487=)
c.1524C>A (p.Val508=)
n.457C>A
c.1527C>A (p.Val509=)
c.1455C>A (p.Val485=)
c.1419C>A (p.Val473=)
c.1416C>A (p.Val472=)
c.846C>A (p.Val282=)
n.1772-2916G>T
c.1371C>A (p.Val457=)
c.879C>A (p.Val293=)
2g.27364509A>CCA346196624EIF2B4,GTF3C2-AS2c.1463T>G (p.Val488Gly)
c.*729T>G (n.*729T>G)
c.1460T>G (p.Val487Gly)
c.1523T>G (p.Val508Gly)
n.456T>G
c.1526T>G (p.Val509Gly)
c.1454T>G (p.Val485Gly)
c.1418T>G (p.Val473Gly)
c.1415T>G (p.Val472Gly)
c.845T>G (p.Val282Gly)
n.1772-2915A>C
c.1370T>G (p.Val457Gly)
c.878T>G (p.Val293Gly)
2g.27364509A>GCA346196625EIF2B4,GTF3C2-AS2c.1463T>C (p.Val488Ala)
c.*729T>C (n.*729T>C)
c.1460T>C (p.Val487Ala)
c.1523T>C (p.Val508Ala)
n.456T>C
c.1526T>C (p.Val509Ala)
c.1454T>C (p.Val485Ala)
c.1418T>C (p.Val473Ala)
c.1415T>C (p.Val472Ala)
c.845T>C (p.Val282Ala)
n.1772-2915A>G
c.1370T>C (p.Val457Ala)
c.878T>C (p.Val293Ala)
2g.27364509A>TCA346196626EIF2B4,GTF3C2-AS2c.1463T>A (p.Val488Asp)
c.*729T>A (n.*729T>A)
c.1460T>A (p.Val487Asp)
c.1523T>A (p.Val508Asp)
n.456T>A
c.1526T>A (p.Val509Asp)
c.1454T>A (p.Val485Asp)
c.1418T>A (p.Val473Asp)
c.1415T>A (p.Val472Asp)
c.845T>A (p.Val282Asp)
n.1772-2915A>T
c.1370T>A (p.Val457Asp)
c.878T>A (p.Val293Asp)
2g.27364510C>ACA346196628EIF2B4,GTF3C2-AS2c.1462G>T (p.Val488Phe)
c.*728G>T (n.*728G>T)
c.1459G>T (p.Val487Phe)
c.1522G>T (p.Val508Phe)
n.455G>T
c.1525G>T (p.Val509Phe)
c.1453G>T (p.Val485Phe)
c.1417G>T (p.Val473Phe)
c.1414G>T (p.Val472Phe)
c.844G>T (p.Val282Phe)
n.1772-2914C>A
c.1369G>T (p.Val457Phe)
c.877G>T (p.Val293Phe)
2g.27364510C=CA1240242810EIF2B4,GTF3C2-AS2c.1462G= (p.Val488=)
c.*728G= (n.*728G=)
c.1459G= (p.Val487=)
c.1522G= (p.Val508=)
n.455G=
c.1525G= (p.Val509=)
c.1453G= (p.Val485=)
c.1417G= (p.Val473=)
c.1414G= (p.Val472=)
c.844G= (p.Val282=)
n.1772-2914C=
c.1369G= (p.Val457=)
c.877G= (p.Val293=)
2g.27364510C>GCA346196629EIF2B4,GTF3C2-AS2c.1462G>C (p.Val488Leu)
c.*728G>C (n.*728G>C)
c.1459G>C (p.Val487Leu)
c.1522G>C (p.Val508Leu)
n.455G>C
c.1525G>C (p.Val509Leu)
c.1453G>C (p.Val485Leu)
c.1417G>C (p.Val473Leu)
c.1414G>C (p.Val472Leu)
c.844G>C (p.Val282Leu)
n.1772-2914C>G
c.1369G>C (p.Val457Leu)
c.877G>C (p.Val293Leu)
 gnomAD v4
2g.27364510C>TCA346196627EIF2B4,GTF3C2-AS2c.1462G>A (p.Val488Ile)
c.*728G>A (n.*728G>A)
c.1459G>A (p.Val487Ile)
c.1522G>A (p.Val508Ile)
n.455G>A
c.1525G>A (p.Val509Ile)
c.1453G>A (p.Val485Ile)
c.1417G>A (p.Val473Ile)
c.1414G>A (p.Val472Ile)
c.844G>A (p.Val282Ile)
n.1772-2914C>T
c.1369G>A (p.Val457Ile)
c.877G>A (p.Val293Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.27364511T>ACA425409772EIF2B4,GTF3C2-AS2c.1461A>T (p.Leu487=)
c.*727A>T (n.*727A>T)
c.1458A>T (p.Leu486=)
c.1521A>T (p.Leu507=)
n.454A>T
c.1524A>T (p.Leu508=)
c.1452A>T (p.Leu484=)
c.1416A>T (p.Leu472=)
c.1413A>T (p.Leu471=)
c.843A>T (p.Leu281=)
n.1772-2913T>A
c.1368A>T (p.Leu456=)
c.876A>T (p.Leu292=)
2g.27364511T>CCA425409773EIF2B4,GTF3C2-AS2c.1461A>G (p.Leu487=)
c.*727A>G (n.*727A>G)
c.1458A>G (p.Leu486=)
c.1521A>G (p.Leu507=)
n.454A>G
c.1524A>G (p.Leu508=)
c.1452A>G (p.Leu484=)
c.1416A>G (p.Leu472=)
c.1413A>G (p.Leu471=)
c.843A>G (p.Leu281=)
n.1772-2913T>C
c.1368A>G (p.Leu456=)
c.876A>G (p.Leu292=)
2g.27364511T>GCA425409774EIF2B4,GTF3C2-AS2c.1461A>C (p.Leu487=)
c.*727A>C (n.*727A>C)
c.1458A>C (p.Leu486=)
c.1521A>C (p.Leu507=)
n.454A>C
c.1524A>C (p.Leu508=)
c.1452A>C (p.Leu484=)
c.1416A>C (p.Leu472=)
c.1413A>C (p.Leu471=)
c.843A>C (p.Leu281=)
n.1772-2913T>G
c.1368A>C (p.Leu456=)
c.876A>C (p.Leu292=)
2g.27364512A>CCA346196630EIF2B4,GTF3C2-AS2c.1460T>G (p.Leu487Arg)
c.*726T>G (n.*726T>G)
c.1457T>G (p.Leu486Arg)
c.1520T>G (p.Leu507Arg)
n.453T>G
c.1523T>G (p.Leu508Arg)
c.1451T>G (p.Leu484Arg)
c.1415T>G (p.Leu472Arg)
c.1412T>G (p.Leu471Arg)
c.842T>G (p.Leu281Arg)
n.1772-2912A>C
c.1367T>G (p.Leu456Arg)
c.875T>G (p.Leu292Arg)
2g.27364512A>GCA346196631EIF2B4,GTF3C2-AS2c.1460T>C (p.Leu487Pro)
c.*726T>C (n.*726T>C)
c.1457T>C (p.Leu486Pro)
c.1520T>C (p.Leu507Pro)
n.453T>C
c.1523T>C (p.Leu508Pro)
c.1451T>C (p.Leu484Pro)
c.1415T>C (p.Leu472Pro)
c.1412T>C (p.Leu471Pro)
c.842T>C (p.Leu281Pro)
n.1772-2912A>G
c.1367T>C (p.Leu456Pro)
c.875T>C (p.Leu292Pro)
2g.27364512A>TCA346196632EIF2B4,GTF3C2-AS2c.1460T>A (p.Leu487Gln)
c.*726T>A (n.*726T>A)
c.1457T>A (p.Leu486Gln)
c.1520T>A (p.Leu507Gln)
n.453T>A
c.1523T>A (p.Leu508Gln)
c.1451T>A (p.Leu484Gln)
c.1415T>A (p.Leu472Gln)
c.1412T>A (p.Leu471Gln)
c.842T>A (p.Leu281Gln)
n.1772-2912A>T
c.1367T>A (p.Leu456Gln)
c.875T>A (p.Leu292Gln)
2g.27364513G>ACA1576568EIF2B4,GTF3C2-AS2c.1459C>T (p.Leu487=)
c.*725C>T (n.*725C>T)
c.1456C>T (p.Leu486=)
c.1519C>T (p.Leu507=)
n.452C>T
c.1522C>T (p.Leu508=)
c.1450C>T (p.Leu484=)
c.1414C>T (p.Leu472=)
c.1411C>T (p.Leu471=)
c.841C>T (p.Leu281=)
n.1772-2911G>A
c.1366C>T (p.Leu456=)
c.874C>T (p.Leu292=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364513G>CCA346196633EIF2B4,GTF3C2-AS2c.1459C>G (p.Leu487Val)
c.*725C>G (n.*725C>G)
c.1456C>G (p.Leu486Val)
c.1519C>G (p.Leu507Val)
n.452C>G
c.1522C>G (p.Leu508Val)
c.1450C>G (p.Leu484Val)
c.1414C>G (p.Leu472Val)
c.1411C>G (p.Leu471Val)
c.841C>G (p.Leu281Val)
n.1772-2911G>C
c.1366C>G (p.Leu456Val)
c.874C>G (p.Leu292Val)
 gnomAD v4
2g.27364513G=CA1240242811EIF2B4,GTF3C2-AS2c.1459C= (p.Leu487=)
c.*725C= (n.*725C=)
c.1456C= (p.Leu486=)
c.1519C= (p.Leu507=)
n.452C=
c.1522C= (p.Leu508=)
c.1450C= (p.Leu484=)
c.1414C= (p.Leu472=)
c.1411C= (p.Leu471=)
c.841C= (p.Leu281=)
n.1772-2911G=
c.1366C= (p.Leu456=)
c.874C= (p.Leu292=)
2g.27364513G>TCA346196634EIF2B4,GTF3C2-AS2c.1459C>A (p.Leu487Ile)
c.*725C>A (n.*725C>A)
c.1456C>A (p.Leu486Ile)
c.1519C>A (p.Leu507Ile)
n.452C>A
c.1522C>A (p.Leu508Ile)
c.1450C>A (p.Leu484Ile)
c.1414C>A (p.Leu472Ile)
c.1411C>A (p.Leu471Ile)
c.841C>A (p.Leu281Ile)
n.1772-2911G>T
c.1366C>A (p.Leu456Ile)
c.874C>A (p.Leu292Ile)
2g.27364514A>CCA346196635EIF2B4,GTF3C2-AS2c.1458T>G (p.Asn486Lys)
c.*724T>G (n.*724T>G)
c.1455T>G (p.Asn485Lys)
c.1518T>G (p.Asn506Lys)
n.451T>G
c.1521T>G (p.Asn507Lys)
c.1449T>G (p.Asn483Lys)
c.1413T>G (p.Asn471Lys)
c.1410T>G (p.Asn470Lys)
c.840T>G (p.Asn280Lys)
n.1772-2910A>C
c.1365T>G (p.Asn455Lys)
c.873T>G (p.Asn291Lys)
2g.27364514A>GCA425409775EIF2B4,GTF3C2-AS2c.1458T>C (p.Asn486=)
c.*724T>C (n.*724T>C)
c.1455T>C (p.Asn485=)
c.1518T>C (p.Asn506=)
n.451T>C
c.1521T>C (p.Asn507=)
c.1449T>C (p.Asn483=)
c.1413T>C (p.Asn471=)
c.1410T>C (p.Asn470=)
c.840T>C (p.Asn280=)
n.1772-2910A>G
c.1365T>C (p.Asn455=)
c.873T>C (p.Asn291=)
2g.27364514A>TCA346196636EIF2B4,GTF3C2-AS2c.1458T>A (p.Asn486Lys)
c.*724T>A (n.*724T>A)
c.1455T>A (p.Asn485Lys)
c.1518T>A (p.Asn506Lys)
n.451T>A
c.1521T>A (p.Asn507Lys)
c.1449T>A (p.Asn483Lys)
c.1413T>A (p.Asn471Lys)
c.1410T>A (p.Asn470Lys)
c.840T>A (p.Asn280Lys)
n.1772-2910A>T
c.1365T>A (p.Asn455Lys)
c.873T>A (p.Asn291Lys)
2g.27364515T>ACA346196637EIF2B4,GTF3C2-AS2c.1457A>T (p.Asn486Ile)
c.*723A>T (n.*723A>T)
c.1454A>T (p.Asn485Ile)
c.1517A>T (p.Asn506Ile)
n.450A>T
c.1520A>T (p.Asn507Ile)
c.1448A>T (p.Asn483Ile)
c.1412A>T (p.Asn471Ile)
c.1409A>T (p.Asn470Ile)
c.839A>T (p.Asn280Ile)
n.1772-2909T>A
c.1364A>T (p.Asn455Ile)
c.872A>T (p.Asn291Ile)
2g.27364515T>CCA346196638EIF2B4,GTF3C2-AS2c.1457A>G (p.Asn486Ser)
c.*723A>G (n.*723A>G)
c.1454A>G (p.Asn485Ser)
c.1517A>G (p.Asn506Ser)
n.450A>G
c.1520A>G (p.Asn507Ser)
c.1448A>G (p.Asn483Ser)
c.1412A>G (p.Asn471Ser)
c.1409A>G (p.Asn470Ser)
c.839A>G (p.Asn280Ser)
n.1772-2909T>C
c.1364A>G (p.Asn455Ser)
c.872A>G (p.Asn291Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.27364515T>GCA346196639EIF2B4,GTF3C2-AS2c.1457A>C (p.Asn486Thr)
c.*723A>C (n.*723A>C)
c.1454A>C (p.Asn485Thr)
c.1517A>C (p.Asn506Thr)
n.450A>C
c.1520A>C (p.Asn507Thr)
c.1448A>C (p.Asn483Thr)
c.1412A>C (p.Asn471Thr)
c.1409A>C (p.Asn470Thr)
c.839A>C (p.Asn280Thr)
n.1772-2909T>G
c.1364A>C (p.Asn455Thr)
c.872A>C (p.Asn291Thr)
2g.27364515T=CA1240242812EIF2B4,GTF3C2-AS2c.1457A= (p.Asn486=)
c.*723A= (n.*723A=)
c.1454A= (p.Asn485=)
c.1517A= (p.Asn506=)
n.450A=
c.1520A= (p.Asn507=)
c.1448A= (p.Asn483=)
c.1412A= (p.Asn471=)
c.1409A= (p.Asn470=)
c.839A= (p.Asn280=)
n.1772-2909T=
c.1364A= (p.Asn455=)
c.872A= (p.Asn291=)
2g.27364516T>ACA346196640EIF2B4,GTF3C2-AS2c.1456A>T (p.Asn486Tyr)
c.*722A>T (n.*722A>T)
c.1453A>T (p.Asn485Tyr)
c.1516A>T (p.Asn506Tyr)
n.449A>T
c.1519A>T (p.Asn507Tyr)
c.1447A>T (p.Asn483Tyr)
c.1411A>T (p.Asn471Tyr)
c.1408A>T (p.Asn470Tyr)
c.838A>T (p.Asn280Tyr)
n.1772-2908T>A
c.1363A>T (p.Asn455Tyr)
c.871A>T (p.Asn291Tyr)
2g.27364516T>CCA346196641EIF2B4,GTF3C2-AS2c.1456A>G (p.Asn486Asp)
c.*722A>G (n.*722A>G)
c.1453A>G (p.Asn485Asp)
c.1516A>G (p.Asn506Asp)
n.449A>G
c.1519A>G (p.Asn507Asp)
c.1447A>G (p.Asn483Asp)
c.1411A>G (p.Asn471Asp)
c.1408A>G (p.Asn470Asp)
c.838A>G (p.Asn280Asp)
n.1772-2908T>C
c.1363A>G (p.Asn455Asp)
c.871A>G (p.Asn291Asp)
 gnomAD v4
2g.27364516T>GCA346196642EIF2B4,GTF3C2-AS2c.1456A>C (p.Asn486His)
c.*722A>C (n.*722A>C)
c.1453A>C (p.Asn485His)
c.1516A>C (p.Asn506His)
n.449A>C
c.1519A>C (p.Asn507His)
c.1447A>C (p.Asn483His)
c.1411A>C (p.Asn471His)
c.1408A>C (p.Asn470His)
c.838A>C (p.Asn280His)
n.1772-2908T>G
c.1363A>C (p.Asn455His)
c.871A>C (p.Asn291His)
2g.27364517C>ACA346196644EIF2B4,GTF3C2-AS2c.1455G>T (p.Leu485Phe)
c.*721G>T (n.*721G>T)
c.1452G>T (p.Leu484Phe)
c.1515G>T (p.Leu505Phe)
n.448G>T
c.1518G>T (p.Leu506Phe)
c.1446G>T (p.Leu482Phe)
c.1410G>T (p.Leu470Phe)
c.1407G>T (p.Leu469Phe)
c.837G>T (p.Leu279Phe)
n.1772-2907C>A
c.1362G>T (p.Leu454Phe)
c.870G>T (p.Leu290Phe)
2g.27364517C>GCA346196643EIF2B4,GTF3C2-AS2c.1455G>C (p.Leu485Phe)
c.*721G>C (n.*721G>C)
c.1452G>C (p.Leu484Phe)
c.1515G>C (p.Leu505Phe)
n.448G>C
c.1518G>C (p.Leu506Phe)
c.1446G>C (p.Leu482Phe)
c.1410G>C (p.Leu470Phe)
c.1407G>C (p.Leu469Phe)
c.837G>C (p.Leu279Phe)
n.1772-2907C>G
c.1362G>C (p.Leu454Phe)
c.870G>C (p.Leu290Phe)
 gnomAD v4
2g.27364517C>TCA425409776EIF2B4,GTF3C2-AS2c.1455G>A (p.Leu485=)
c.*721G>A (n.*721G>A)
c.1452G>A (p.Leu484=)
c.1515G>A (p.Leu505=)
n.448G>A
c.1518G>A (p.Leu506=)
c.1446G>A (p.Leu482=)
c.1410G>A (p.Leu470=)
c.1407G>A (p.Leu469=)
c.837G>A (p.Leu279=)
n.1772-2907C>T
c.1362G>A (p.Leu454=)
c.870G>A (p.Leu290=)
2g.27364521_27364523delCA2658336133EIF2B4,GTF3C2-AS2c.1453_1455del (p.Leu485del)
c.*719_*721del (n.*719_*721del)
c.1450_1452del (p.Leu484del)
c.1513_1515del (p.Leu505del)
n.446_448del
c.1516_1518del (p.Leu506del)
c.1444_1446del (p.Leu482del)
c.1408_1410del (p.Leu470del)
c.1405_1407del (p.Leu469del)
c.835_837del (p.Leu279del)
n.1772-2903_1772-2901del
c.1360_1362del (p.Leu454del)
c.868_870del (p.Leu290del)
 gnomAD v4
2g.27364518A>CCA346196645EIF2B4,GTF3C2-AS2c.1454T>G (p.Leu485Trp)
c.*720T>G (n.*720T>G)
c.1451T>G (p.Leu484Trp)
c.1514T>G (p.Leu505Trp)
n.447T>G
c.1517T>G (p.Leu506Trp)
c.1445T>G (p.Leu482Trp)
c.1409T>G (p.Leu470Trp)
c.1406T>G (p.Leu469Trp)
c.836T>G (p.Leu279Trp)
n.1772-2906A>C
c.1361T>G (p.Leu454Trp)
c.869T>G (p.Leu290Trp)
2g.27364518A>GCA346196647EIF2B4,GTF3C2-AS2c.1454T>C (p.Leu485Ser)
c.*720T>C (n.*720T>C)
c.1451T>C (p.Leu484Ser)
c.1514T>C (p.Leu505Ser)
n.447T>C
c.1517T>C (p.Leu506Ser)
c.1445T>C (p.Leu482Ser)
c.1409T>C (p.Leu470Ser)
c.1406T>C (p.Leu469Ser)
c.836T>C (p.Leu279Ser)
n.1772-2906A>G
c.1361T>C (p.Leu454Ser)
c.869T>C (p.Leu290Ser)
2g.27364518A>TCA346196646EIF2B4,GTF3C2-AS2c.1454T>A (p.Leu485Ter)
c.*720T>A (n.*720T>A)
c.1451T>A (p.Leu484Ter)
c.1514T>A (p.Leu505Ter)
n.447T>A
c.1517T>A (p.Leu506Ter)
c.1445T>A (p.Leu482Ter)
c.1409T>A (p.Leu470Ter)
c.1406T>A (p.Leu469Ter)
c.836T>A (p.Leu279Ter)
n.1772-2906A>T
c.1361T>A (p.Leu454Ter)
c.869T>A (p.Leu290Ter)
2g.27364519A=CA1240242813EIF2B4,GTF3C2-AS2c.1453T= (p.Leu485=)
c.*719T= (n.*719T=)
c.1450T= (p.Leu484=)
c.1513T= (p.Leu505=)
n.446T=
c.1516T= (p.Leu506=)
c.1444T= (p.Leu482=)
c.1408T= (p.Leu470=)
c.1405T= (p.Leu469=)
c.835T= (p.Leu279=)
n.1772-2905A=
c.1360T= (p.Leu454=)
c.868T= (p.Leu290=)
2g.27364519A>CCA346196648EIF2B4,GTF3C2-AS2c.1453T>G (p.Leu485Val)
c.*719T>G (n.*719T>G)
c.1450T>G (p.Leu484Val)
c.1513T>G (p.Leu505Val)
n.446T>G
c.1516T>G (p.Leu506Val)
c.1444T>G (p.Leu482Val)
c.1408T>G (p.Leu470Val)
c.1405T>G (p.Leu469Val)
c.835T>G (p.Leu279Val)
n.1772-2905A>C
c.1360T>G (p.Leu454Val)
c.868T>G (p.Leu290Val)
2g.27364519A>GCA425409777EIF2B4,GTF3C2-AS2c.1453T>C (p.Leu485=)
c.*719T>C (n.*719T>C)
c.1450T>C (p.Leu484=)
c.1513T>C (p.Leu505=)
n.446T>C
c.1516T>C (p.Leu506=)
c.1444T>C (p.Leu482=)
c.1408T>C (p.Leu470=)
c.1405T>C (p.Leu469=)
c.835T>C (p.Leu279=)
n.1772-2905A>G
c.1360T>C (p.Leu454=)
c.868T>C (p.Leu290=)
 dbSNP gnomAD v3 gnomAD v4
2g.27364519A>TCA346196649EIF2B4,GTF3C2-AS2c.1453T>A (p.Leu485Met)
c.*719T>A (n.*719T>A)
c.1450T>A (p.Leu484Met)
c.1513T>A (p.Leu505Met)
n.446T>A
c.1516T>A (p.Leu506Met)
c.1444T>A (p.Leu482Met)
c.1408T>A (p.Leu470Met)
c.1405T>A (p.Leu469Met)
c.835T>A (p.Leu279Met)
n.1772-2905A>T
c.1360T>A (p.Leu454Met)
c.868T>A (p.Leu290Met)
2g.27364520C>ACA346196650EIF2B4,GTF3C2-AS2c.1452G>T (p.Leu484Phe)
c.*718G>T (n.*718G>T)
c.1449G>T (p.Leu483Phe)
c.1512G>T (p.Leu504Phe)
n.445G>T
c.1515G>T (p.Leu505Phe)
c.1443G>T (p.Leu481Phe)
c.1407G>T (p.Leu469Phe)
c.1404G>T (p.Leu468Phe)
c.834G>T (p.Leu278Phe)
n.1772-2904C>A
c.1359G>T (p.Leu453Phe)
c.867G>T (p.Leu289Phe)
2g.27364520C>GCA346196651EIF2B4,GTF3C2-AS2c.1452G>C (p.Leu484Phe)
c.*718G>C (n.*718G>C)
c.1449G>C (p.Leu483Phe)
c.1512G>C (p.Leu504Phe)
n.445G>C
c.1515G>C (p.Leu505Phe)
c.1443G>C (p.Leu481Phe)
c.1407G>C (p.Leu469Phe)
c.1404G>C (p.Leu468Phe)
c.834G>C (p.Leu278Phe)
n.1772-2904C>G
c.1359G>C (p.Leu453Phe)
c.867G>C (p.Leu289Phe)
2g.27364520C>TCA425409778EIF2B4,GTF3C2-AS2c.1452G>A (p.Leu484=)
c.*718G>A (n.*718G>A)
c.1449G>A (p.Leu483=)
c.1512G>A (p.Leu504=)
n.445G>A
c.1515G>A (p.Leu505=)
c.1443G>A (p.Leu481=)
c.1407G>A (p.Leu469=)
c.1404G>A (p.Leu468=)
c.834G>A (p.Leu278=)
n.1772-2904C>T
c.1359G>A (p.Leu453=)
c.867G>A (p.Leu289=)
2g.27364521A>CCA346196652EIF2B4,GTF3C2-AS2c.1451T>G (p.Leu484Trp)
c.*717T>G (n.*717T>G)
c.1448T>G (p.Leu483Trp)
c.1511T>G (p.Leu504Trp)
n.444T>G
c.1514T>G (p.Leu505Trp)
c.1442T>G (p.Leu481Trp)
c.1406T>G (p.Leu469Trp)
c.1403T>G (p.Leu468Trp)
c.833T>G (p.Leu278Trp)
n.1772-2903A>C
c.1358T>G (p.Leu453Trp)
c.866T>G (p.Leu289Trp)
2g.27364521A>GCA346196653EIF2B4,GTF3C2-AS2c.1451T>C (p.Leu484Ser)
c.*717T>C (n.*717T>C)
c.1448T>C (p.Leu483Ser)
c.1511T>C (p.Leu504Ser)
n.444T>C
c.1514T>C (p.Leu505Ser)
c.1442T>C (p.Leu481Ser)
c.1406T>C (p.Leu469Ser)
c.1403T>C (p.Leu468Ser)
c.833T>C (p.Leu278Ser)
n.1772-2903A>G
c.1358T>C (p.Leu453Ser)
c.866T>C (p.Leu289Ser)
2g.27364521A>TCA346196654EIF2B4,GTF3C2-AS2c.1451T>A (p.Leu484Ter)
c.*717T>A (n.*717T>A)
c.1448T>A (p.Leu483Ter)
c.1511T>A (p.Leu504Ter)
n.444T>A
c.1514T>A (p.Leu505Ter)
c.1442T>A (p.Leu481Ter)
c.1406T>A (p.Leu469Ter)
c.1403T>A (p.Leu468Ter)
c.833T>A (p.Leu278Ter)
n.1772-2903A>T
c.1358T>A (p.Leu453Ter)
c.866T>A (p.Leu289Ter)
2g.27364522delCA2749264941EIF2B4,GTF3C2-AS2c.1451del (p.Leu484CysfsTer2)
c.*717del (n.*717del)
c.1448del (p.Leu483CysfsTer2)
c.1511del (p.Leu504CysfsTer2)
n.444del
c.1514del (p.Leu505CysfsTer2)
c.1442del (p.Leu481CysfsTer2)
c.1406del (p.Leu469CysfsTer2)
c.1403del (p.Leu468CysfsTer2)
c.833del (p.Leu278CysfsTer2)
n.1772-2902del
c.1358del (p.Leu453CysfsTer2)
c.866del (p.Leu289CysfsTer2)
2g.27364522A>CCA346196655EIF2B4,GTF3C2-AS2c.1450T>G (p.Leu484Val)
c.*716T>G (n.*716T>G)
c.1447T>G (p.Leu483Val)
c.1510T>G (p.Leu504Val)
n.443T>G
c.1513T>G (p.Leu505Val)
c.1441T>G (p.Leu481Val)
c.1405T>G (p.Leu469Val)
c.1402T>G (p.Leu468Val)
c.832T>G (p.Leu278Val)
n.1772-2902A>C
c.1357T>G (p.Leu453Val)
c.865T>G (p.Leu289Val)
2g.27364522A>GCA425409779EIF2B4,GTF3C2-AS2c.1450T>C (p.Leu484=)
c.*716T>C (n.*716T>C)
c.1447T>C (p.Leu483=)
c.1510T>C (p.Leu504=)
n.443T>C
c.1513T>C (p.Leu505=)
c.1441T>C (p.Leu481=)
c.1405T>C (p.Leu469=)
c.1402T>C (p.Leu468=)
c.832T>C (p.Leu278=)
n.1772-2902A>G
c.1357T>C (p.Leu453=)
c.865T>C (p.Leu289=)
2g.27364522A>TCA346196656EIF2B4,GTF3C2-AS2c.1450T>A (p.Leu484Met)
c.*716T>A (n.*716T>A)
c.1447T>A (p.Leu483Met)
c.1510T>A (p.Leu504Met)
n.443T>A
c.1513T>A (p.Leu505Met)
c.1441T>A (p.Leu481Met)
c.1405T>A (p.Leu469Met)
c.1402T>A (p.Leu468Met)
c.832T>A (p.Leu278Met)
n.1772-2902A>T
c.1357T>A (p.Leu453Met)
c.865T>A (p.Leu289Met)
2g.27364523C>ACA425409780EIF2B4,GTF3C2-AS2c.1449G>T (p.Arg483=)
c.*715G>T (n.*715G>T)
c.1446G>T (p.Arg482=)
c.1509G>T (p.Arg503=)
n.442G>T
c.1512G>T (p.Arg504=)
c.1440G>T (p.Arg480=)
c.1404G>T (p.Arg468=)
c.1401G>T (p.Arg467=)
c.831G>T (p.Arg277=)
n.1772-2901C>A
c.1356G>T (p.Arg452=)
c.864G>T (p.Arg288=)
2g.27364523C>GCA425409781EIF2B4,GTF3C2-AS2c.1449G>C (p.Arg483=)
c.*715G>C (n.*715G>C)
c.1446G>C (p.Arg482=)
c.1509G>C (p.Arg503=)
n.442G>C
c.1512G>C (p.Arg504=)
c.1440G>C (p.Arg480=)
c.1404G>C (p.Arg468=)
c.1401G>C (p.Arg467=)
c.831G>C (p.Arg277=)
n.1772-2901C>G
c.1356G>C (p.Arg452=)
c.864G>C (p.Arg288=)
2g.27364523C>TCA425409782EIF2B4,GTF3C2-AS2c.1449G>A (p.Arg483=)
c.*715G>A (n.*715G>A)
c.1446G>A (p.Arg482=)
c.1509G>A (p.Arg503=)
n.442G>A
c.1512G>A (p.Arg504=)
c.1440G>A (p.Arg480=)
c.1404G>A (p.Arg468=)
c.1401G>A (p.Arg467=)
c.831G>A (p.Arg277=)
n.1772-2901C>T
c.1356G>A (p.Arg452=)
c.864G>A (p.Arg288=)
2g.27364524C>ACA346196657EIF2B4,GTF3C2-AS2c.1448G>T (p.Arg483Leu)
c.*714G>T (n.*714G>T)
c.1445G>T (p.Arg482Leu)
c.1508G>T (p.Arg503Leu)
n.441G>T
c.1511G>T (p.Arg504Leu)
c.1439G>T (p.Arg480Leu)
c.1403G>T (p.Arg468Leu)
c.1400G>T (p.Arg467Leu)
c.830G>T (p.Arg277Leu)
n.1772-2900C>A
c.1355G>T (p.Arg452Leu)
c.863G>T (p.Arg288Leu)
2g.27364524C=CA1240242814EIF2B4,GTF3C2-AS2c.1448G= (p.Arg483=)
c.*714G= (n.*714G=)
c.1445G= (p.Arg482=)
c.1508G= (p.Arg503=)
n.441G=
c.1511G= (p.Arg504=)
c.1439G= (p.Arg480=)
c.1403G= (p.Arg468=)
c.1400G= (p.Arg467=)
c.830G= (p.Arg277=)
n.1772-2900C=
c.1355G= (p.Arg452=)
c.863G= (p.Arg288=)
2g.27364524C>GCA346196658EIF2B4,GTF3C2-AS2c.1448G>C (p.Arg483Pro)
c.*714G>C (n.*714G>C)
c.1445G>C (p.Arg482Pro)
c.1508G>C (p.Arg503Pro)
n.441G>C
c.1511G>C (p.Arg504Pro)
c.1439G>C (p.Arg480Pro)
c.1403G>C (p.Arg468Pro)
c.1400G>C (p.Arg467Pro)
c.830G>C (p.Arg277Pro)
n.1772-2900C>G
c.1355G>C (p.Arg452Pro)
c.863G>C (p.Arg288Pro)
2g.27364524C>TCA1576569EIF2B4,GTF3C2-AS2c.1448G>A (p.Arg483Gln)
c.*714G>A (n.*714G>A)
c.1445G>A (p.Arg482Gln)
c.1508G>A (p.Arg503Gln)
n.441G>A
c.1511G>A (p.Arg504Gln)
c.1439G>A (p.Arg480Gln)
c.1403G>A (p.Arg468Gln)
c.1400G>A (p.Arg467Gln)
c.830G>A (p.Arg277Gln)
n.1772-2900C>T
c.1355G>A (p.Arg452Gln)
c.863G>A (p.Arg288Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364525G>ACA44509202EIF2B4,GTF3C2-AS2c.1447C>T (p.Arg483Trp)
c.*713C>T (n.*713C>T)
c.1444C>T (p.Arg482Trp)
c.1507C>T (p.Arg503Trp)
n.440C>T
c.1510C>T (p.Arg504Trp)
c.1438C>T (p.Arg480Trp)
c.1402C>T (p.Arg468Trp)
c.1399C>T (p.Arg467Trp)
c.829C>T (p.Arg277Trp)
n.1772-2899G>A
c.1354C>T (p.Arg452Trp)
c.862C>T (p.Arg288Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.27364525G>CCA346196659EIF2B4,GTF3C2-AS2c.1447C>G (p.Arg483Gly)
c.*713C>G (n.*713C>G)
c.1444C>G (p.Arg482Gly)
c.1507C>G (p.Arg503Gly)
n.440C>G
c.1510C>G (p.Arg504Gly)
c.1438C>G (p.Arg480Gly)
c.1402C>G (p.Arg468Gly)
c.1399C>G (p.Arg467Gly)
c.829C>G (p.Arg277Gly)
n.1772-2899G>C
c.1354C>G (p.Arg452Gly)
c.862C>G (p.Arg288Gly)
2g.27364525G=CA1240242815EIF2B4,GTF3C2-AS2c.1447C= (p.Arg483=)
c.*713C= (n.*713C=)
c.1444C= (p.Arg482=)
c.1507C= (p.Arg503=)
n.440C=
c.1510C= (p.Arg504=)
c.1438C= (p.Arg480=)
c.1402C= (p.Arg468=)
c.1399C= (p.Arg467=)
c.829C= (p.Arg277=)
n.1772-2899G=
c.1354C= (p.Arg452=)
c.862C= (p.Arg288=)
2g.27364525G>TCA425409783EIF2B4,GTF3C2-AS2c.1447C>A (p.Arg483=)
c.*713C>A (n.*713C>A)
c.1444C>A (p.Arg482=)
c.1507C>A (p.Arg503=)
n.440C>A
c.1510C>A (p.Arg504=)
c.1438C>A (p.Arg480=)
c.1402C>A (p.Arg468=)
c.1399C>A (p.Arg467=)
c.829C>A (p.Arg277=)
n.1772-2899G>T
c.1354C>A (p.Arg452=)
c.862C>A (p.Arg288=)
 gnomAD v4
2g.27364526T>ACA425409784EIF2B4,GTF3C2-AS2c.1446A>T (p.Leu482=)
c.*712A>T (n.*712A>T)
c.1443A>T (p.Leu481=)
c.1506A>T (p.Leu502=)
n.439A>T
c.1509A>T (p.Leu503=)
c.1437A>T (p.Leu479=)
c.1401A>T (p.Leu467=)
c.1398A>T (p.Leu466=)
c.828A>T (p.Leu276=)
n.1772-2898T>A
c.1353A>T (p.Leu451=)
c.861A>T (p.Leu287=)
2g.27364526T>CCA425409785EIF2B4,GTF3C2-AS2c.1446A>G (p.Leu482=)
c.*712A>G (n.*712A>G)
c.1443A>G (p.Leu481=)
c.1506A>G (p.Leu502=)
n.439A>G
c.1509A>G (p.Leu503=)
c.1437A>G (p.Leu479=)
c.1401A>G (p.Leu467=)
c.1398A>G (p.Leu466=)
c.828A>G (p.Leu276=)
n.1772-2898T>C
c.1353A>G (p.Leu451=)
c.861A>G (p.Leu287=)
 gnomAD v4
2g.27364526T>GCA425409786EIF2B4,GTF3C2-AS2c.1446A>C (p.Leu482=)
c.*712A>C (n.*712A>C)
c.1443A>C (p.Leu481=)
c.1506A>C (p.Leu502=)
n.439A>C
c.1509A>C (p.Leu503=)
c.1437A>C (p.Leu479=)
c.1401A>C (p.Leu467=)
c.1398A>C (p.Leu466=)
c.828A>C (p.Leu276=)
n.1772-2898T>G
c.1353A>C (p.Leu451=)
c.861A>C (p.Leu287=)
2g.27364527A>CCA346196662EIF2B4,GTF3C2-AS2c.1445T>G (p.Leu482Arg)
c.*711T>G (n.*711T>G)
c.1442T>G (p.Leu481Arg)
c.1505T>G (p.Leu502Arg)
n.438T>G
c.1508T>G (p.Leu503Arg)
c.1436T>G (p.Leu479Arg)
c.1400T>G (p.Leu467Arg)
c.1397T>G (p.Leu466Arg)
c.827T>G (p.Leu276Arg)
n.1772-2897A>C
c.1352T>G (p.Leu451Arg)
c.860T>G (p.Leu287Arg)
2g.27364527A>GCA346196660EIF2B4,GTF3C2-AS2c.1445T>C (p.Leu482Pro)
c.*711T>C (n.*711T>C)
c.1442T>C (p.Leu481Pro)
c.1505T>C (p.Leu502Pro)
n.438T>C
c.1508T>C (p.Leu503Pro)
c.1436T>C (p.Leu479Pro)
c.1400T>C (p.Leu467Pro)
c.1397T>C (p.Leu466Pro)
c.827T>C (p.Leu276Pro)
n.1772-2897A>G
c.1352T>C (p.Leu451Pro)
c.860T>C (p.Leu287Pro)
2g.27364527A>TCA346196661EIF2B4,GTF3C2-AS2c.1445T>A (p.Leu482Gln)
c.*711T>A (n.*711T>A)
c.1442T>A (p.Leu481Gln)
c.1505T>A (p.Leu502Gln)
n.438T>A
c.1508T>A (p.Leu503Gln)
c.1436T>A (p.Leu479Gln)
c.1400T>A (p.Leu467Gln)
c.1397T>A (p.Leu466Gln)
c.827T>A (p.Leu276Gln)
n.1772-2897A>T
c.1352T>A (p.Leu451Gln)
c.860T>A (p.Leu287Gln)
2g.27364528G>ACA425409787EIF2B4,GTF3C2-AS2c.1444C>T (p.Leu482=)
c.*710C>T (n.*710C>T)
c.1441C>T (p.Leu481=)
c.1504C>T (p.Leu502=)
n.437C>T
c.1507C>T (p.Leu503=)
c.1435C>T (p.Leu479=)
c.1399C>T (p.Leu467=)
c.1396C>T (p.Leu466=)
c.826C>T (p.Leu276=)
n.1772-2896G>A
c.1351C>T (p.Leu451=)
c.859C>T (p.Leu287=)
2g.27364528G>CCA346196663EIF2B4,GTF3C2-AS2c.1444C>G (p.Leu482Val)
c.*710C>G (n.*710C>G)
c.1441C>G (p.Leu481Val)
c.1504C>G (p.Leu502Val)
n.437C>G
c.1507C>G (p.Leu503Val)
c.1435C>G (p.Leu479Val)
c.1399C>G (p.Leu467Val)
c.1396C>G (p.Leu466Val)
c.826C>G (p.Leu276Val)
n.1772-2896G>C
c.1351C>G (p.Leu451Val)
c.859C>G (p.Leu287Val)
 gnomAD v4
2g.27364528G>TCA346196664EIF2B4,GTF3C2-AS2c.1444C>A (p.Leu482Ile)
c.*710C>A (n.*710C>A)
c.1441C>A (p.Leu481Ile)
c.1504C>A (p.Leu502Ile)
n.437C>A
c.1507C>A (p.Leu503Ile)
c.1435C>A (p.Leu479Ile)
c.1399C>A (p.Leu467Ile)
c.1396C>A (p.Leu466Ile)
c.826C>A (p.Leu276Ile)
n.1772-2896G>T
c.1351C>A (p.Leu451Ile)
c.859C>A (p.Leu287Ile)
2g.27364529G>ACA425409788EIF2B4,GTF3C2-AS2c.1443C>T (p.Ser481=)
c.*709C>T (n.*709C>T)
c.1440C>T (p.Ser480=)
c.1503C>T (p.Ser501=)
n.436C>T
c.1506C>T (p.Ser502=)
c.1434C>T (p.Ser478=)
c.1398C>T (p.Ser466=)
c.1395C>T (p.Ser465=)
c.825C>T (p.Ser275=)
n.1772-2895G>A
c.1350C>T (p.Ser450=)
c.858C>T (p.Ser286=)
2g.27364529G>CCA425409789EIF2B4,GTF3C2-AS2c.1443C>G (p.Ser481=)
c.*709C>G (n.*709C>G)
c.1440C>G (p.Ser480=)
c.1503C>G (p.Ser501=)
n.436C>G
c.1506C>G (p.Ser502=)
c.1434C>G (p.Ser478=)
c.1398C>G (p.Ser466=)
c.1395C>G (p.Ser465=)
c.825C>G (p.Ser275=)
n.1772-2895G>C
c.1350C>G (p.Ser450=)
c.858C>G (p.Ser286=)
2g.27364529G>TCA425409790EIF2B4,GTF3C2-AS2c.1443C>A (p.Ser481=)
c.*709C>A (n.*709C>A)
c.1440C>A (p.Ser480=)
c.1503C>A (p.Ser501=)
n.436C>A
c.1506C>A (p.Ser502=)
c.1434C>A (p.Ser478=)
c.1398C>A (p.Ser466=)
c.1395C>A (p.Ser465=)
c.825C>A (p.Ser275=)
n.1772-2895G>T
c.1350C>A (p.Ser450=)
c.858C>A (p.Ser286=)
2g.27364530G>ACA346196665EIF2B4,GTF3C2-AS2c.1442C>T (p.Ser481Phe)
c.*708C>T (n.*708C>T)
c.1439C>T (p.Ser480Phe)
c.1502C>T (p.Ser501Phe)
n.435C>T
c.1505C>T (p.Ser502Phe)
c.1433C>T (p.Ser478Phe)
c.1397C>T (p.Ser466Phe)
c.1394C>T (p.Ser465Phe)
c.824C>T (p.Ser275Phe)
n.1772-2894G>A
c.1349C>T (p.Ser450Phe)
c.857C>T (p.Ser286Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.27364530G>CCA1576570EIF2B4,GTF3C2-AS2c.1442C>G (p.Ser481Cys)
c.*708C>G (n.*708C>G)
c.1439C>G (p.Ser480Cys)
c.1502C>G (p.Ser501Cys)
n.435C>G
c.1505C>G (p.Ser502Cys)
c.1433C>G (p.Ser478Cys)
c.1397C>G (p.Ser466Cys)
c.1394C>G (p.Ser465Cys)
c.824C>G (p.Ser275Cys)
n.1772-2894G>C
c.1349C>G (p.Ser450Cys)
c.857C>G (p.Ser286Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364530G=CA1240242816EIF2B4,GTF3C2-AS2c.1442C= (p.Ser481=)
c.*708C= (n.*708C=)
c.1439C= (p.Ser480=)
c.1502C= (p.Ser501=)
n.435C=
c.1505C= (p.Ser502=)
c.1433C= (p.Ser478=)
c.1397C= (p.Ser466=)
c.1394C= (p.Ser465=)
c.824C= (p.Ser275=)
n.1772-2894G=
c.1349C= (p.Ser450=)
c.857C= (p.Ser286=)
2g.27364530G>TCA346196666EIF2B4,GTF3C2-AS2c.1442C>A (p.Ser481Tyr)
c.*708C>A (n.*708C>A)
c.1439C>A (p.Ser480Tyr)
c.1502C>A (p.Ser501Tyr)
n.435C>A
c.1505C>A (p.Ser502Tyr)
c.1433C>A (p.Ser478Tyr)
c.1397C>A (p.Ser466Tyr)
c.1394C>A (p.Ser465Tyr)
c.824C>A (p.Ser275Tyr)
n.1772-2894G>T
c.1349C>A (p.Ser450Tyr)
c.857C>A (p.Ser286Tyr)
2g.27364531A>CCA346196667EIF2B4,GTF3C2-AS2c.1441T>G (p.Ser481Ala)
c.*707T>G (n.*707T>G)
c.1438T>G (p.Ser480Ala)
c.1501T>G (p.Ser501Ala)
n.434T>G
c.1504T>G (p.Ser502Ala)
c.1432T>G (p.Ser478Ala)
c.1396T>G (p.Ser466Ala)
c.1393T>G (p.Ser465Ala)
c.823T>G (p.Ser275Ala)
n.1772-2893A>C
c.1348T>G (p.Ser450Ala)
c.856T>G (p.Ser286Ala)
2g.27364531A>GCA346196668EIF2B4,GTF3C2-AS2c.1441T>C (p.Ser481Pro)
c.*707T>C (n.*707T>C)
c.1438T>C (p.Ser480Pro)
c.1501T>C (p.Ser501Pro)
n.434T>C
c.1504T>C (p.Ser502Pro)
c.1432T>C (p.Ser478Pro)
c.1396T>C (p.Ser466Pro)
c.1393T>C (p.Ser465Pro)
c.823T>C (p.Ser275Pro)
n.1772-2893A>G
c.1348T>C (p.Ser450Pro)
c.856T>C (p.Ser286Pro)
 gnomAD v4
2g.27364531A>TCA346196669EIF2B4,GTF3C2-AS2c.1441T>A (p.Ser481Thr)
c.*707T>A (n.*707T>A)
c.1438T>A (p.Ser480Thr)
c.1501T>A (p.Ser501Thr)
n.434T>A
c.1504T>A (p.Ser502Thr)
c.1432T>A (p.Ser478Thr)
c.1396T>A (p.Ser466Thr)
c.1393T>A (p.Ser465Thr)
c.823T>A (p.Ser275Thr)
n.1772-2893A>T
c.1348T>A (p.Ser450Thr)
c.856T>A (p.Ser286Thr)
 COSMIC
2g.27364532T>ACA425409791EIF2B4,GTF3C2-AS2c.1440A>T (p.Ala480=)
c.*706A>T (n.*706A>T)
c.1437A>T (p.Ala479=)
c.1500A>T (p.Ala500=)
n.433A>T
c.1503A>T (p.Ala501=)
c.1431A>T (p.Ala477=)
c.1395A>T (p.Ala465=)
c.1392A>T (p.Ala464=)
c.822A>T (p.Ala274=)
n.1772-2892T>A
c.1347A>T (p.Ala449=)
c.855A>T (p.Ala285=)
2g.27364532T>CCA425409792EIF2B4,GTF3C2-AS2c.1440A>G (p.Ala480=)
c.*706A>G (n.*706A>G)
c.1437A>G (p.Ala479=)
c.1500A>G (p.Ala500=)
n.433A>G
c.1503A>G (p.Ala501=)
c.1431A>G (p.Ala477=)
c.1395A>G (p.Ala465=)
c.1392A>G (p.Ala464=)
c.822A>G (p.Ala274=)
n.1772-2892T>C
c.1347A>G (p.Ala449=)
c.855A>G (p.Ala285=)
 ClinVar gnomAD v4
2g.27364532T>GCA425409793EIF2B4,GTF3C2-AS2c.1440A>C (p.Ala480=)
c.*706A>C (n.*706A>C)
c.1437A>C (p.Ala479=)
c.1500A>C (p.Ala500=)
n.433A>C
c.1503A>C (p.Ala501=)
c.1431A>C (p.Ala477=)
c.1395A>C (p.Ala465=)
c.1392A>C (p.Ala464=)
c.822A>C (p.Ala274=)
n.1772-2892T>G
c.1347A>C (p.Ala449=)
c.855A>C (p.Ala285=)
2g.27364533G>ACA44509227EIF2B4,GTF3C2-AS2c.1439C>T (p.Ala480Val)
c.*705C>T (n.*705C>T)
c.1436C>T (p.Ala479Val)
c.1499C>T (p.Ala500Val)
n.432C>T
c.1502C>T (p.Ala501Val)
c.1430C>T (p.Ala477Val)
c.1394C>T (p.Ala465Val)
c.1391C>T (p.Ala464Val)
c.821C>T (p.Ala274Val)
n.1772-2891G>A
c.1346C>T (p.Ala449Val)
c.854C>T (p.Ala285Val)
 dbSNP gnomAD v4
2g.27364533G>CCA44509233EIF2B4,GTF3C2-AS2c.1439C>G (p.Ala480Gly)
c.*705C>G (n.*705C>G)
c.1436C>G (p.Ala479Gly)
c.1499C>G (p.Ala500Gly)
n.432C>G
c.1502C>G (p.Ala501Gly)
c.1430C>G (p.Ala477Gly)
c.1394C>G (p.Ala465Gly)
c.1391C>G (p.Ala464Gly)
c.821C>G (p.Ala274Gly)
n.1772-2891G>C
c.1346C>G (p.Ala449Gly)
c.854C>G (p.Ala285Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27364533G=CA1240242817EIF2B4,GTF3C2-AS2c.1439C= (p.Ala480=)
c.*705C= (n.*705C=)
c.1436C= (p.Ala479=)
c.1499C= (p.Ala500=)
n.432C=
c.1502C= (p.Ala501=)
c.1430C= (p.Ala477=)
c.1394C= (p.Ala465=)
c.1391C= (p.Ala464=)
c.821C= (p.Ala274=)
n.1772-2891G=
c.1346C= (p.Ala449=)
c.854C= (p.Ala285=)
2g.27364533G>TCA346196670EIF2B4,GTF3C2-AS2c.1439C>A (p.Ala480Glu)
c.*705C>A (n.*705C>A)
c.1436C>A (p.Ala479Glu)
c.1499C>A (p.Ala500Glu)
n.432C>A
c.1502C>A (p.Ala501Glu)
c.1430C>A (p.Ala477Glu)
c.1394C>A (p.Ala465Glu)
c.1391C>A (p.Ala464Glu)
c.821C>A (p.Ala274Glu)
n.1772-2891G>T
c.1346C>A (p.Ala449Glu)
c.854C>A (p.Ala285Glu)
 dbSNP gnomAD v4
2g.27364534C>ACA346196672EIF2B4,GTF3C2-AS2c.1438G>T (p.Ala480Ser)
c.*704G>T (n.*704G>T)
c.1435G>T (p.Ala479Ser)
c.1498G>T (p.Ala500Ser)
n.431G>T
c.1501G>T (p.Ala501Ser)
c.1429G>T (p.Ala477Ser)
c.1393G>T (p.Ala465Ser)
c.1390G>T (p.Ala464Ser)
c.820G>T (p.Ala274Ser)
n.1772-2890C>A
c.1345G>T (p.Ala449Ser)
c.853G>T (p.Ala285Ser)
2g.27364534C=CA1240242818EIF2B4,GTF3C2-AS2c.1438G= (p.Ala480=)
c.*704G= (n.*704G=)
c.1435G= (p.Ala479=)
c.1498G= (p.Ala500=)
n.431G=
c.1501G= (p.Ala501=)
c.1429G= (p.Ala477=)
c.1393G= (p.Ala465=)
c.1390G= (p.Ala464=)
c.820G= (p.Ala274=)
n.1772-2890C=
c.1345G= (p.Ala449=)
c.853G= (p.Ala285=)
2g.27364534C>GCA346196671EIF2B4,GTF3C2-AS2c.1438G>C (p.Ala480Pro)
c.*704G>C (n.*704G>C)
c.1435G>C (p.Ala479Pro)
c.1498G>C (p.Ala500Pro)
n.431G>C
c.1501G>C (p.Ala501Pro)
c.1429G>C (p.Ala477Pro)
c.1393G>C (p.Ala465Pro)
c.1390G>C (p.Ala464Pro)
c.820G>C (p.Ala274Pro)
n.1772-2890C>G
c.1345G>C (p.Ala449Pro)
c.853G>C (p.Ala285Pro)
2g.27364534C>TCA1576571EIF2B4,GTF3C2-AS2c.1438G>A (p.Ala480Thr)
c.*704G>A (n.*704G>A)
c.1435G>A (p.Ala479Thr)
c.1498G>A (p.Ala500Thr)
n.431G>A
c.1501G>A (p.Ala501Thr)
c.1429G>A (p.Ala477Thr)
c.1393G>A (p.Ala465Thr)
c.1390G>A (p.Ala464Thr)
c.820G>A (p.Ala274Thr)
n.1772-2890C>T
c.1345G>A (p.Ala449Thr)
c.853G>A (p.Ala285Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched