Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27364412G>ACA425409621EIF2B4,GTF3C2-AS2c.1560C>T (p.Ser520=)
c.*826C>T (n.*826C>T)
c.1557C>T (p.Ser519=)
c.1620C>T (p.Ser540=)
n.553C>T
c.1623C>T (p.Ser541=)
c.1551C>T (p.Ser517=)
c.1515C>T (p.Ser505=)
c.1512C>T (p.Ser504=)
c.942C>T (p.Ser314=)
n.1772-3012G>A
c.1467C>T (p.Ser489=)
c.975C>T (p.Ser325=)
 dbSNP gnomAD v3 gnomAD v4
2g.27364412G>CCA346196347EIF2B4,GTF3C2-AS2c.1560C>G (p.Ser520Arg)
c.*826C>G (n.*826C>G)
c.1557C>G (p.Ser519Arg)
c.1620C>G (p.Ser540Arg)
n.553C>G
c.1623C>G (p.Ser541Arg)
c.1551C>G (p.Ser517Arg)
c.1515C>G (p.Ser505Arg)
c.1512C>G (p.Ser504Arg)
c.942C>G (p.Ser314Arg)
n.1772-3012G>C
c.1467C>G (p.Ser489Arg)
c.975C>G (p.Ser325Arg)
2g.27364412G=CA1240242774EIF2B4,GTF3C2-AS2c.1560C= (p.Ser520=)
c.*826C= (n.*826C=)
c.1557C= (p.Ser519=)
c.1620C= (p.Ser540=)
n.553C=
c.1623C= (p.Ser541=)
c.1551C= (p.Ser517=)
c.1515C= (p.Ser505=)
c.1512C= (p.Ser504=)
c.942C= (p.Ser314=)
n.1772-3012G=
c.1467C= (p.Ser489=)
c.975C= (p.Ser325=)
2g.27364412G>TCA346196349EIF2B4,GTF3C2-AS2c.1560C>A (p.Ser520Arg)
c.*826C>A (n.*826C>A)
c.1557C>A (p.Ser519Arg)
c.1620C>A (p.Ser540Arg)
n.553C>A
c.1623C>A (p.Ser541Arg)
c.1551C>A (p.Ser517Arg)
c.1515C>A (p.Ser505Arg)
c.1512C>A (p.Ser504Arg)
c.942C>A (p.Ser314Arg)
n.1772-3012G>T
c.1467C>A (p.Ser489Arg)
c.975C>A (p.Ser325Arg)
2g.27364413C>ACA346196351EIF2B4,GTF3C2-AS2c.1559G>T (p.Ser520Ile)
c.*825G>T (n.*825G>T)
c.1556G>T (p.Ser519Ile)
c.1619G>T (p.Ser540Ile)
n.552G>T
c.1622G>T (p.Ser541Ile)
c.1550G>T (p.Ser517Ile)
c.1514G>T (p.Ser505Ile)
c.1511G>T (p.Ser504Ile)
c.941G>T (p.Ser314Ile)
n.1772-3011C>A
c.1466G>T (p.Ser489Ile)
c.974G>T (p.Ser325Ile)
2g.27364413C=CA1240242775EIF2B4,GTF3C2-AS2c.1559G= (p.Ser520=)
c.*825G= (n.*825G=)
c.1556G= (p.Ser519=)
c.1619G= (p.Ser540=)
n.552G=
c.1622G= (p.Ser541=)
c.1550G= (p.Ser517=)
c.1514G= (p.Ser505=)
c.1511G= (p.Ser504=)
c.941G= (p.Ser314=)
n.1772-3011C=
c.1466G= (p.Ser489=)
c.974G= (p.Ser325=)
2g.27364413C>GCA346196353EIF2B4,GTF3C2-AS2c.1559G>C (p.Ser520Thr)
c.*825G>C (n.*825G>C)
c.1556G>C (p.Ser519Thr)
c.1619G>C (p.Ser540Thr)
n.552G>C
c.1622G>C (p.Ser541Thr)
c.1550G>C (p.Ser517Thr)
c.1514G>C (p.Ser505Thr)
c.1511G>C (p.Ser504Thr)
c.941G>C (p.Ser314Thr)
n.1772-3011C>G
c.1466G>C (p.Ser489Thr)
c.974G>C (p.Ser325Thr)
2g.27364413C>TCA1576550EIF2B4,GTF3C2-AS2c.1559G>A (p.Ser520Asn)
c.*825G>A (n.*825G>A)
c.1556G>A (p.Ser519Asn)
c.1619G>A (p.Ser540Asn)
n.552G>A
c.1622G>A (p.Ser541Asn)
c.1550G>A (p.Ser517Asn)
c.1514G>A (p.Ser505Asn)
c.1511G>A (p.Ser504Asn)
c.941G>A (p.Ser314Asn)
n.1772-3011C>T
c.1466G>A (p.Ser489Asn)
c.974G>A (p.Ser325Asn)
 dbSNP ExAC
2g.27364414T>ACA346196356EIF2B4,GTF3C2-AS2c.1558A>T (p.Ser520Cys)
c.*824A>T (n.*824A>T)
c.1555A>T (p.Ser519Cys)
c.1618A>T (p.Ser540Cys)
n.551A>T
c.1621A>T (p.Ser541Cys)
c.1549A>T (p.Ser517Cys)
c.1513A>T (p.Ser505Cys)
c.1510A>T (p.Ser504Cys)
c.940A>T (p.Ser314Cys)
n.1772-3010T>A
c.1465A>T (p.Ser489Cys)
c.973A>T (p.Ser325Cys)
2g.27364414T>CCA346196359EIF2B4,GTF3C2-AS2c.1558A>G (p.Ser520Gly)
c.*824A>G (n.*824A>G)
c.1555A>G (p.Ser519Gly)
c.1618A>G (p.Ser540Gly)
n.551A>G
c.1621A>G (p.Ser541Gly)
c.1549A>G (p.Ser517Gly)
c.1513A>G (p.Ser505Gly)
c.1510A>G (p.Ser504Gly)
c.940A>G (p.Ser314Gly)
n.1772-3010T>C
c.1465A>G (p.Ser489Gly)
c.973A>G (p.Ser325Gly)
2g.27364414T>GCA346196357EIF2B4,GTF3C2-AS2c.1558A>C (p.Ser520Arg)
c.*824A>C (n.*824A>C)
c.1555A>C (p.Ser519Arg)
c.1618A>C (p.Ser540Arg)
n.551A>C
c.1621A>C (p.Ser541Arg)
c.1549A>C (p.Ser517Arg)
c.1513A>C (p.Ser505Arg)
c.1510A>C (p.Ser504Arg)
c.940A>C (p.Ser314Arg)
n.1772-3010T>G
c.1465A>C (p.Ser489Arg)
c.973A>C (p.Ser325Arg)
2g.27364415C>ACA346196364EIF2B4,GTF3C2-AS2c.1557G>T (p.Lys519Asn)
c.*823G>T (n.*823G>T)
c.1554G>T (p.Lys518Asn)
c.1617G>T (p.Lys539Asn)
n.550G>T
c.1620G>T (p.Lys540Asn)
c.1548G>T (p.Lys516Asn)
c.1512G>T (p.Lys504Asn)
c.1509G>T (p.Lys503Asn)
c.939G>T (p.Lys313Asn)
n.1772-3009C>A
c.1464G>T (p.Lys488Asn)
c.972G>T (p.Lys324Asn)
2g.27364415C=CA1240242776EIF2B4,GTF3C2-AS2c.1557G= (p.Lys519=)
c.*823G= (n.*823G=)
c.1554G= (p.Lys518=)
c.1617G= (p.Lys539=)
n.550G=
c.1620G= (p.Lys540=)
c.1548G= (p.Lys516=)
c.1512G= (p.Lys504=)
c.1509G= (p.Lys503=)
c.939G= (p.Lys313=)
n.1772-3009C=
c.1464G= (p.Lys488=)
c.972G= (p.Lys324=)
2g.27364415C>GCA346196365EIF2B4,GTF3C2-AS2c.1557G>C (p.Lys519Asn)
c.*823G>C (n.*823G>C)
c.1554G>C (p.Lys518Asn)
c.1617G>C (p.Lys539Asn)
n.550G>C
c.1620G>C (p.Lys540Asn)
c.1548G>C (p.Lys516Asn)
c.1512G>C (p.Lys504Asn)
c.1509G>C (p.Lys503Asn)
c.939G>C (p.Lys313Asn)
n.1772-3009C>G
c.1464G>C (p.Lys488Asn)
c.972G>C (p.Lys324Asn)
2g.27364415C>TCA1576551EIF2B4,GTF3C2-AS2c.1557G>A (p.Lys519=)
c.*823G>A (n.*823G>A)
c.1554G>A (p.Lys518=)
c.1617G>A (p.Lys539=)
n.550G>A
c.1620G>A (p.Lys540=)
c.1548G>A (p.Lys516=)
c.1512G>A (p.Lys504=)
c.1509G>A (p.Lys503=)
c.939G>A (p.Lys313=)
n.1772-3009C>T
c.1464G>A (p.Lys488=)
c.972G>A (p.Lys324=)
 dbSNP ExAC gnomAD v2
2g.27364416T>ACA346196368EIF2B4,GTF3C2-AS2c.1556A>T (p.Lys519Met)
c.*822A>T (n.*822A>T)
c.1553A>T (p.Lys518Met)
c.1616A>T (p.Lys539Met)
n.549A>T
c.1619A>T (p.Lys540Met)
c.1547A>T (p.Lys516Met)
c.1511A>T (p.Lys504Met)
c.1508A>T (p.Lys503Met)
c.938A>T (p.Lys313Met)
n.1772-3008T>A
c.1463A>T (p.Lys488Met)
c.971A>T (p.Lys324Met)
2g.27364416T>CCA1576552EIF2B4,GTF3C2-AS2c.1556A>G (p.Lys519Arg)
c.*822A>G (n.*822A>G)
c.1553A>G (p.Lys518Arg)
c.1616A>G (p.Lys539Arg)
n.549A>G
c.1619A>G (p.Lys540Arg)
c.1547A>G (p.Lys516Arg)
c.1511A>G (p.Lys504Arg)
c.1508A>G (p.Lys503Arg)
c.938A>G (p.Lys313Arg)
n.1772-3008T>C
c.1463A>G (p.Lys488Arg)
c.971A>G (p.Lys324Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364416T>GCA346196370EIF2B4,GTF3C2-AS2c.1556A>C (p.Lys519Thr)
c.*822A>C (n.*822A>C)
c.1553A>C (p.Lys518Thr)
c.1616A>C (p.Lys539Thr)
n.549A>C
c.1619A>C (p.Lys540Thr)
c.1547A>C (p.Lys516Thr)
c.1511A>C (p.Lys504Thr)
c.1508A>C (p.Lys503Thr)
c.938A>C (p.Lys313Thr)
n.1772-3008T>G
c.1463A>C (p.Lys488Thr)
c.971A>C (p.Lys324Thr)
2g.27364416T=CA1240242777EIF2B4,GTF3C2-AS2c.1556A= (p.Lys519=)
c.*822A= (n.*822A=)
c.1553A= (p.Lys518=)
c.1616A= (p.Lys539=)
n.549A=
c.1619A= (p.Lys540=)
c.1547A= (p.Lys516=)
c.1511A= (p.Lys504=)
c.1508A= (p.Lys503=)
c.938A= (p.Lys313=)
n.1772-3008T=
c.1463A= (p.Lys488=)
c.971A= (p.Lys324=)
2g.27364417T>ACA346196372EIF2B4,GTF3C2-AS2c.1555A>T (p.Lys519Ter)
c.*821A>T (n.*821A>T)
c.1552A>T (p.Lys518Ter)
c.1615A>T (p.Lys539Ter)
n.548A>T
c.1618A>T (p.Lys540Ter)
c.1546A>T (p.Lys516Ter)
c.1510A>T (p.Lys504Ter)
c.1507A>T (p.Lys503Ter)
c.937A>T (p.Lys313Ter)
n.1772-3007T>A
c.1462A>T (p.Lys488Ter)
c.970A>T (p.Lys324Ter)
2g.27364417T>CCA346196374EIF2B4,GTF3C2-AS2c.1555A>G (p.Lys519Glu)
c.*821A>G (n.*821A>G)
c.1552A>G (p.Lys518Glu)
c.1615A>G (p.Lys539Glu)
n.548A>G
c.1618A>G (p.Lys540Glu)
c.1546A>G (p.Lys516Glu)
c.1510A>G (p.Lys504Glu)
c.1507A>G (p.Lys503Glu)
c.937A>G (p.Lys313Glu)
n.1772-3007T>C
c.1462A>G (p.Lys488Glu)
c.970A>G (p.Lys324Glu)
2g.27364417T>GCA346196375EIF2B4,GTF3C2-AS2c.1555A>C (p.Lys519Gln)
c.*821A>C (n.*821A>C)
c.1552A>C (p.Lys518Gln)
c.1615A>C (p.Lys539Gln)
n.548A>C
c.1618A>C (p.Lys540Gln)
c.1546A>C (p.Lys516Gln)
c.1510A>C (p.Lys504Gln)
c.1507A>C (p.Lys503Gln)
c.937A>C (p.Lys313Gln)
n.1772-3007T>G
c.1462A>C (p.Lys488Gln)
c.970A>C (p.Lys324Gln)
2g.27364418G>ACA425409630EIF2B4,GTF3C2-AS2c.1554C>T (p.Val518=)
c.*820C>T (n.*820C>T)
c.1551C>T (p.Val517=)
c.1614C>T (p.Val538=)
n.547C>T
c.1617C>T (p.Val539=)
c.1545C>T (p.Val515=)
c.1509C>T (p.Val503=)
c.1506C>T (p.Val502=)
c.936C>T (p.Val312=)
n.1772-3006G>A
c.1461C>T (p.Val487=)
c.969C>T (p.Val323=)
2g.27364418G>CCA425409633EIF2B4,GTF3C2-AS2c.1554C>G (p.Val518=)
c.*820C>G (n.*820C>G)
c.1551C>G (p.Val517=)
c.1614C>G (p.Val538=)
n.547C>G
c.1617C>G (p.Val539=)
c.1545C>G (p.Val515=)
c.1509C>G (p.Val503=)
c.1506C>G (p.Val502=)
c.936C>G (p.Val312=)
n.1772-3006G>C
c.1461C>G (p.Val487=)
c.969C>G (p.Val323=)
2g.27364418G>TCA425409632EIF2B4,GTF3C2-AS2c.1554C>A (p.Val518=)
c.*820C>A (n.*820C>A)
c.1551C>A (p.Val517=)
c.1614C>A (p.Val538=)
n.547C>A
c.1617C>A (p.Val539=)
c.1545C>A (p.Val515=)
c.1509C>A (p.Val503=)
c.1506C>A (p.Val502=)
c.936C>A (p.Val312=)
n.1772-3006G>T
c.1461C>A (p.Val487=)
c.969C>A (p.Val323=)
2g.27364419A>CCA346196381EIF2B4,GTF3C2-AS2c.1553T>G (p.Val518Gly)
c.*819T>G (n.*819T>G)
c.1550T>G (p.Val517Gly)
c.1613T>G (p.Val538Gly)
n.546T>G
c.1616T>G (p.Val539Gly)
c.1544T>G (p.Val515Gly)
c.1508T>G (p.Val503Gly)
c.1505T>G (p.Val502Gly)
c.935T>G (p.Val312Gly)
n.1772-3005A>C
c.1460T>G (p.Val487Gly)
c.968T>G (p.Val323Gly)
2g.27364419A>GCA346196379EIF2B4,GTF3C2-AS2c.1553T>C (p.Val518Ala)
c.*819T>C (n.*819T>C)
c.1550T>C (p.Val517Ala)
c.1613T>C (p.Val538Ala)
n.546T>C
c.1616T>C (p.Val539Ala)
c.1544T>C (p.Val515Ala)
c.1508T>C (p.Val503Ala)
c.1505T>C (p.Val502Ala)
c.935T>C (p.Val312Ala)
n.1772-3005A>G
c.1460T>C (p.Val487Ala)
c.968T>C (p.Val323Ala)
2g.27364419A>TCA346196378EIF2B4,GTF3C2-AS2c.1553T>A (p.Val518Asp)
c.*819T>A (n.*819T>A)
c.1550T>A (p.Val517Asp)
c.1613T>A (p.Val538Asp)
n.546T>A
c.1616T>A (p.Val539Asp)
c.1544T>A (p.Val515Asp)
c.1508T>A (p.Val503Asp)
c.1505T>A (p.Val502Asp)
c.935T>A (p.Val312Asp)
n.1772-3005A>T
c.1460T>A (p.Val487Asp)
c.968T>A (p.Val323Asp)
2g.27364420C>ACA346196383EIF2B4,GTF3C2-AS2c.1552G>T (p.Val518Phe)
c.*818G>T (n.*818G>T)
c.1549G>T (p.Val517Phe)
c.1612G>T (p.Val538Phe)
n.545G>T
c.1615G>T (p.Val539Phe)
c.1543G>T (p.Val515Phe)
c.1507G>T (p.Val503Phe)
c.1504G>T (p.Val502Phe)
c.934G>T (p.Val312Phe)
n.1772-3004C>A
c.1459G>T (p.Val487Phe)
c.967G>T (p.Val323Phe)
2g.27364420C>GCA346196385EIF2B4,GTF3C2-AS2c.1552G>C (p.Val518Leu)
c.*818G>C (n.*818G>C)
c.1549G>C (p.Val517Leu)
c.1612G>C (p.Val538Leu)
n.545G>C
c.1615G>C (p.Val539Leu)
c.1543G>C (p.Val515Leu)
c.1507G>C (p.Val503Leu)
c.1504G>C (p.Val502Leu)
c.934G>C (p.Val312Leu)
n.1772-3004C>G
c.1459G>C (p.Val487Leu)
c.967G>C (p.Val323Leu)
 gnomAD v4
2g.27364420C>TCA346196387EIF2B4,GTF3C2-AS2c.1552G>A (p.Val518Ile)
c.*818G>A (n.*818G>A)
c.1549G>A (p.Val517Ile)
c.1612G>A (p.Val538Ile)
n.545G>A
c.1615G>A (p.Val539Ile)
c.1543G>A (p.Val515Ile)
c.1507G>A (p.Val503Ile)
c.1504G>A (p.Val502Ile)
c.934G>A (p.Val312Ile)
n.1772-3004C>T
c.1459G>A (p.Val487Ile)
c.967G>A (p.Val323Ile)
2g.27364421T>ACA425409642EIF2B4,GTF3C2-AS2c.1551A>T (p.Arg517=)
c.*817A>T (n.*817A>T)
c.1548A>T (p.Arg516=)
c.1611A>T (p.Arg537=)
n.544A>T
c.1614A>T (p.Arg538=)
c.1542A>T (p.Arg514=)
c.1506A>T (p.Arg502=)
c.1503A>T (p.Arg501=)
c.933A>T (p.Arg311=)
n.1772-3003T>A
c.1458A>T (p.Arg486=)
c.966A>T (p.Arg322=)
2g.27364421T>CCA425409644EIF2B4,GTF3C2-AS2c.1551A>G (p.Arg517=)
c.*817A>G (n.*817A>G)
c.1548A>G (p.Arg516=)
c.1611A>G (p.Arg537=)
n.544A>G
c.1614A>G (p.Arg538=)
c.1542A>G (p.Arg514=)
c.1506A>G (p.Arg502=)
c.1503A>G (p.Arg501=)
c.933A>G (p.Arg311=)
n.1772-3003T>C
c.1458A>G (p.Arg486=)
c.966A>G (p.Arg322=)
 dbSNP
2g.27364421T>GCA1576553EIF2B4,GTF3C2-AS2c.1551A>C (p.Arg517=)
c.*817A>C (n.*817A>C)
c.1548A>C (p.Arg516=)
c.1611A>C (p.Arg537=)
n.544A>C
c.1614A>C (p.Arg538=)
c.1542A>C (p.Arg514=)
c.1506A>C (p.Arg502=)
c.1503A>C (p.Arg501=)
c.933A>C (p.Arg311=)
n.1772-3003T>G
c.1458A>C (p.Arg486=)
c.966A>C (p.Arg322=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364421T=CA1240242778EIF2B4,GTF3C2-AS2c.1551A= (p.Arg517=)
c.*817A= (n.*817A=)
c.1548A= (p.Arg516=)
c.1611A= (p.Arg537=)
n.544A=
c.1614A= (p.Arg538=)
c.1542A= (p.Arg514=)
c.1506A= (p.Arg502=)
c.1503A= (p.Arg501=)
c.933A= (p.Arg311=)
n.1772-3003T=
c.1458A= (p.Arg486=)
c.966A= (p.Arg322=)
2g.27364422C>ACA346196390EIF2B4,GTF3C2-AS2c.1550G>T (p.Arg517Leu)
c.*816G>T (n.*816G>T)
c.1547G>T (p.Arg516Leu)
c.1610G>T (p.Arg537Leu)
n.543G>T
c.1613G>T (p.Arg538Leu)
c.1541G>T (p.Arg514Leu)
c.1505G>T (p.Arg502Leu)
c.1502G>T (p.Arg501Leu)
c.932G>T (p.Arg311Leu)
n.1772-3002C>A
c.1457G>T (p.Arg486Leu)
c.965G>T (p.Arg322Leu)
2g.27364422C>GCA346196392EIF2B4,GTF3C2-AS2c.1550G>C (p.Arg517Pro)
c.*816G>C (n.*816G>C)
c.1547G>C (p.Arg516Pro)
c.1610G>C (p.Arg537Pro)
n.543G>C
c.1613G>C (p.Arg538Pro)
c.1541G>C (p.Arg514Pro)
c.1505G>C (p.Arg502Pro)
c.1502G>C (p.Arg501Pro)
c.932G>C (p.Arg311Pro)
n.1772-3002C>G
c.1457G>C (p.Arg486Pro)
c.965G>C (p.Arg322Pro)
2g.27364422C>TCA346196393EIF2B4,GTF3C2-AS2c.1550G>A (p.Arg517Gln)
c.*816G>A (n.*816G>A)
c.1547G>A (p.Arg516Gln)
c.1610G>A (p.Arg537Gln)
n.543G>A
c.1613G>A (p.Arg538Gln)
c.1541G>A (p.Arg514Gln)
c.1505G>A (p.Arg502Gln)
c.1502G>A (p.Arg501Gln)
c.932G>A (p.Arg311Gln)
n.1772-3002C>T
c.1457G>A (p.Arg486Gln)
c.965G>A (p.Arg322Gln)
2g.27364423G>ACA1576554EIF2B4,GTF3C2-AS2c.1549C>T (p.Arg517Ter)
c.*815C>T (n.*815C>T)
c.1546C>T (p.Arg516Ter)
c.1609C>T (p.Arg537Ter)
n.542C>T
c.1612C>T (p.Arg538Ter)
c.1540C>T (p.Arg514Ter)
c.1504C>T (p.Arg502Ter)
c.1501C>T (p.Arg501Ter)
c.931C>T (p.Arg311Ter)
n.1772-3001G>A
c.1456C>T (p.Arg486Ter)
c.964C>T (p.Arg322Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364423G>CCA346196396EIF2B4,GTF3C2-AS2c.1549C>G (p.Arg517Gly)
c.*815C>G (n.*815C>G)
c.1546C>G (p.Arg516Gly)
c.1609C>G (p.Arg537Gly)
n.542C>G
c.1612C>G (p.Arg538Gly)
c.1540C>G (p.Arg514Gly)
c.1504C>G (p.Arg502Gly)
c.1501C>G (p.Arg501Gly)
c.931C>G (p.Arg311Gly)
n.1772-3001G>C
c.1456C>G (p.Arg486Gly)
c.964C>G (p.Arg322Gly)
2g.27364423G=CA1240242779EIF2B4,GTF3C2-AS2c.1549C= (p.Arg517=)
c.*815C= (n.*815C=)
c.1546C= (p.Arg516=)
c.1609C= (p.Arg537=)
n.542C=
c.1612C= (p.Arg538=)
c.1540C= (p.Arg514=)
c.1504C= (p.Arg502=)
c.1501C= (p.Arg501=)
c.931C= (p.Arg311=)
n.1772-3001G=
c.1456C= (p.Arg486=)
c.964C= (p.Arg322=)
2g.27364423G>TCA425409646EIF2B4,GTF3C2-AS2c.1549C>A (p.Arg517=)
c.*815C>A (n.*815C>A)
c.1546C>A (p.Arg516=)
c.1609C>A (p.Arg537=)
n.542C>A
c.1612C>A (p.Arg538=)
c.1540C>A (p.Arg514=)
c.1504C>A (p.Arg502=)
c.1501C>A (p.Arg501=)
c.931C>A (p.Arg311=)
n.1772-3001G>T
c.1456C>A (p.Arg486=)
c.964C>A (p.Arg322=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27364424T>ACA425409648EIF2B4,GTF3C2-AS2c.1548A>T (p.Leu516=)
c.*814A>T (n.*814A>T)
c.1545A>T (p.Leu515=)
c.1608A>T (p.Leu536=)
n.541A>T
c.1611A>T (p.Leu537=)
c.1539A>T (p.Leu513=)
c.1503A>T (p.Leu501=)
c.1500A>T (p.Leu500=)
c.930A>T (p.Leu310=)
n.1772-3000T>A
c.1455A>T (p.Leu485=)
c.963A>T (p.Leu321=)
2g.27364424T>CCA425409653EIF2B4,GTF3C2-AS2c.1548A>G (p.Leu516=)
c.*814A>G (n.*814A>G)
c.1545A>G (p.Leu515=)
c.1608A>G (p.Leu536=)
n.541A>G
c.1611A>G (p.Leu537=)
c.1539A>G (p.Leu513=)
c.1503A>G (p.Leu501=)
c.1500A>G (p.Leu500=)
c.930A>G (p.Leu310=)
n.1772-3000T>C
c.1455A>G (p.Leu485=)
c.963A>G (p.Leu321=)
 gnomAD v4
2g.27364424T>GCA425409650EIF2B4,GTF3C2-AS2c.1548A>C (p.Leu516=)
c.*814A>C (n.*814A>C)
c.1545A>C (p.Leu515=)
c.1608A>C (p.Leu536=)
n.541A>C
c.1611A>C (p.Leu537=)
c.1539A>C (p.Leu513=)
c.1503A>C (p.Leu501=)
c.1500A>C (p.Leu500=)
c.930A>C (p.Leu310=)
n.1772-3000T>G
c.1455A>C (p.Leu485=)
c.963A>C (p.Leu321=)
2g.27364425A>CCA346196398EIF2B4,GTF3C2-AS2c.1547T>G (p.Leu516Arg)
c.*813T>G (n.*813T>G)
c.1544T>G (p.Leu515Arg)
c.1607T>G (p.Leu536Arg)
n.540T>G
c.1610T>G (p.Leu537Arg)
c.1538T>G (p.Leu513Arg)
c.1502T>G (p.Leu501Arg)
c.1499T>G (p.Leu500Arg)
c.929T>G (p.Leu310Arg)
n.1772-2999A>C
c.1454T>G (p.Leu485Arg)
c.962T>G (p.Leu321Arg)
2g.27364425A>GCA346196399EIF2B4,GTF3C2-AS2c.1547T>C (p.Leu516Pro)
c.*813T>C (n.*813T>C)
c.1544T>C (p.Leu515Pro)
c.1607T>C (p.Leu536Pro)
n.540T>C
c.1610T>C (p.Leu537Pro)
c.1538T>C (p.Leu513Pro)
c.1502T>C (p.Leu501Pro)
c.1499T>C (p.Leu500Pro)
c.929T>C (p.Leu310Pro)
n.1772-2999A>G
c.1454T>C (p.Leu485Pro)
c.962T>C (p.Leu321Pro)
2g.27364425A>TCA346196401EIF2B4,GTF3C2-AS2c.1547T>A (p.Leu516Gln)
c.*813T>A (n.*813T>A)
c.1544T>A (p.Leu515Gln)
c.1607T>A (p.Leu536Gln)
n.540T>A
c.1610T>A (p.Leu537Gln)
c.1538T>A (p.Leu513Gln)
c.1502T>A (p.Leu501Gln)
c.1499T>A (p.Leu500Gln)
c.929T>A (p.Leu310Gln)
n.1772-2999A>T
c.1454T>A (p.Leu485Gln)
c.962T>A (p.Leu321Gln)
2g.27364426G>ACA425409662EIF2B4,GTF3C2-AS2c.1546C>T (p.Leu516=)
c.*812C>T (n.*812C>T)
c.1543C>T (p.Leu515=)
c.1606C>T (p.Leu536=)
n.539C>T
c.1609C>T (p.Leu537=)
c.1537C>T (p.Leu513=)
c.1501C>T (p.Leu501=)
c.1498C>T (p.Leu500=)
c.928C>T (p.Leu310=)
n.1772-2998G>A
c.1453C>T (p.Leu485=)
c.961C>T (p.Leu321=)
2g.27364426G>CCA346196403EIF2B4,GTF3C2-AS2c.1546C>G (p.Leu516Val)
c.*812C>G (n.*812C>G)
c.1543C>G (p.Leu515Val)
c.1606C>G (p.Leu536Val)
n.539C>G
c.1609C>G (p.Leu537Val)
c.1537C>G (p.Leu513Val)
c.1501C>G (p.Leu501Val)
c.1498C>G (p.Leu500Val)
c.928C>G (p.Leu310Val)
n.1772-2998G>C
c.1453C>G (p.Leu485Val)
c.961C>G (p.Leu321Val)
2g.27364426G>TCA346196405EIF2B4,GTF3C2-AS2c.1546C>A (p.Leu516Ile)
c.*812C>A (n.*812C>A)
c.1543C>A (p.Leu515Ile)
c.1606C>A (p.Leu536Ile)
n.539C>A
c.1609C>A (p.Leu537Ile)
c.1537C>A (p.Leu513Ile)
c.1501C>A (p.Leu501Ile)
c.1498C>A (p.Leu500Ile)
c.928C>A (p.Leu310Ile)
n.1772-2998G>T
c.1453C>A (p.Leu485Ile)
c.961C>A (p.Leu321Ile)
 gnomAD v4
2g.27364427A=CA1240242780EIF2B4,GTF3C2-AS2c.1545T= (p.Val515=)
c.*811T= (n.*811T=)
c.1542T= (p.Val514=)
c.1605T= (p.Val535=)
n.538T=
c.1608T= (p.Val536=)
c.1536T= (p.Val512=)
c.1500T= (p.Val500=)
c.1497T= (p.Val499=)
c.927T= (p.Val309=)
n.1772-2997A=
c.1452T= (p.Val484=)
c.960T= (p.Val320=)
2g.27364427A>CCA425409667EIF2B4,GTF3C2-AS2c.1545T>G (p.Val515=)
c.*811T>G (n.*811T>G)
c.1542T>G (p.Val514=)
c.1605T>G (p.Val535=)
n.538T>G
c.1608T>G (p.Val536=)
c.1536T>G (p.Val512=)
c.1500T>G (p.Val500=)
c.1497T>G (p.Val499=)
c.927T>G (p.Val309=)
n.1772-2997A>C
c.1452T>G (p.Val484=)
c.960T>G (p.Val320=)
2g.27364427A>GCA1576555EIF2B4,GTF3C2-AS2c.1545T>C (p.Val515=)
c.*811T>C (n.*811T>C)
c.1542T>C (p.Val514=)
c.1605T>C (p.Val535=)
n.538T>C
c.1608T>C (p.Val536=)
c.1536T>C (p.Val512=)
c.1500T>C (p.Val500=)
c.1497T>C (p.Val499=)
c.927T>C (p.Val309=)
n.1772-2997A>G
c.1452T>C (p.Val484=)
c.960T>C (p.Val320=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364427A>TCA425409672EIF2B4,GTF3C2-AS2c.1545T>A (p.Val515=)
c.*811T>A (n.*811T>A)
c.1542T>A (p.Val514=)
c.1605T>A (p.Val535=)
n.538T>A
c.1608T>A (p.Val536=)
c.1536T>A (p.Val512=)
c.1500T>A (p.Val500=)
c.1497T>A (p.Val499=)
c.927T>A (p.Val309=)
n.1772-2997A>T
c.1452T>A (p.Val484=)
c.960T>A (p.Val320=)
2g.27364428A>CCA346196408EIF2B4,GTF3C2-AS2c.1544T>G (p.Val515Gly)
c.*810T>G (n.*810T>G)
c.1541T>G (p.Val514Gly)
c.1604T>G (p.Val535Gly)
n.537T>G
c.1607T>G (p.Val536Gly)
c.1535T>G (p.Val512Gly)
c.1499T>G (p.Val500Gly)
c.1496T>G (p.Val499Gly)
c.926T>G (p.Val309Gly)
n.1772-2996A>C
c.1451T>G (p.Val484Gly)
c.959T>G (p.Val320Gly)
2g.27364428A>GCA346196409EIF2B4,GTF3C2-AS2c.1544T>C (p.Val515Ala)
c.*810T>C (n.*810T>C)
c.1541T>C (p.Val514Ala)
c.1604T>C (p.Val535Ala)
n.537T>C
c.1607T>C (p.Val536Ala)
c.1535T>C (p.Val512Ala)
c.1499T>C (p.Val500Ala)
c.1496T>C (p.Val499Ala)
c.926T>C (p.Val309Ala)
n.1772-2996A>G
c.1451T>C (p.Val484Ala)
c.959T>C (p.Val320Ala)
2g.27364428A>TCA346196410EIF2B4,GTF3C2-AS2c.1544T>A (p.Val515Asp)
c.*810T>A (n.*810T>A)
c.1541T>A (p.Val514Asp)
c.1604T>A (p.Val535Asp)
n.537T>A
c.1607T>A (p.Val536Asp)
c.1535T>A (p.Val512Asp)
c.1499T>A (p.Val500Asp)
c.1496T>A (p.Val499Asp)
c.926T>A (p.Val309Asp)
n.1772-2996A>T
c.1451T>A (p.Val484Asp)
c.959T>A (p.Val320Asp)
2g.27364429C>ACA346196411EIF2B4,GTF3C2-AS2c.1543G>T (p.Val515Phe)
c.*809G>T (n.*809G>T)
c.1540G>T (p.Val514Phe)
c.1603G>T (p.Val535Phe)
n.536G>T
c.1606G>T (p.Val536Phe)
c.1534G>T (p.Val512Phe)
c.1498G>T (p.Val500Phe)
c.1495G>T (p.Val499Phe)
c.925G>T (p.Val309Phe)
n.1772-2995C>A
c.1450G>T (p.Val484Phe)
c.958G>T (p.Val320Phe)
2g.27364429C>GCA346196413EIF2B4,GTF3C2-AS2c.1543G>C (p.Val515Leu)
c.*809G>C (n.*809G>C)
c.1540G>C (p.Val514Leu)
c.1603G>C (p.Val535Leu)
n.536G>C
c.1606G>C (p.Val536Leu)
c.1534G>C (p.Val512Leu)
c.1498G>C (p.Val500Leu)
c.1495G>C (p.Val499Leu)
c.925G>C (p.Val309Leu)
n.1772-2995C>G
c.1450G>C (p.Val484Leu)
c.958G>C (p.Val320Leu)
2g.27364429C>TCA346196415EIF2B4,GTF3C2-AS2c.1543G>A (p.Val515Ile)
c.*809G>A (n.*809G>A)
c.1540G>A (p.Val514Ile)
c.1603G>A (p.Val535Ile)
n.536G>A
c.1606G>A (p.Val536Ile)
c.1534G>A (p.Val512Ile)
c.1498G>A (p.Val500Ile)
c.1495G>A (p.Val499Ile)
c.925G>A (p.Val309Ile)
n.1772-2995C>T
c.1450G>A (p.Val484Ile)
c.958G>A (p.Val320Ile)
 gnomAD v4
2g.27364430A=CA1240242781EIF2B4,GTF3C2-AS2c.1542T= (p.Val514=)
c.*808T= (n.*808T=)
c.1539T= (p.Val513=)
c.1602T= (p.Val534=)
n.535T=
c.1605T= (p.Val535=)
c.1533T= (p.Val511=)
c.1497T= (p.Val499=)
c.1494T= (p.Val498=)
c.924T= (p.Val308=)
n.1772-2994A=
c.1449T= (p.Val483=)
c.957T= (p.Val319=)
2g.27364430A>CCA425409679EIF2B4,GTF3C2-AS2c.1542T>G (p.Val514=)
c.*808T>G (n.*808T>G)
c.1539T>G (p.Val513=)
c.1602T>G (p.Val534=)
n.535T>G
c.1605T>G (p.Val535=)
c.1533T>G (p.Val511=)
c.1497T>G (p.Val499=)
c.1494T>G (p.Val498=)
c.924T>G (p.Val308=)
n.1772-2994A>C
c.1449T>G (p.Val483=)
c.957T>G (p.Val319=)
2g.27364430A>GCA425409680EIF2B4,GTF3C2-AS2c.1542T>C (p.Val514=)
c.*808T>C (n.*808T>C)
c.1539T>C (p.Val513=)
c.1602T>C (p.Val534=)
n.535T>C
c.1605T>C (p.Val535=)
c.1533T>C (p.Val511=)
c.1497T>C (p.Val499=)
c.1494T>C (p.Val498=)
c.924T>C (p.Val308=)
n.1772-2994A>G
c.1449T>C (p.Val483=)
c.957T>C (p.Val319=)
 dbSNP gnomAD v3 gnomAD v4
2g.27364430A>TCA425409681EIF2B4,GTF3C2-AS2c.1542T>A (p.Val514=)
c.*808T>A (n.*808T>A)
c.1539T>A (p.Val513=)
c.1602T>A (p.Val534=)
n.535T>A
c.1605T>A (p.Val535=)
c.1533T>A (p.Val511=)
c.1497T>A (p.Val499=)
c.1494T>A (p.Val498=)
c.924T>A (p.Val308=)
n.1772-2994A>T
c.1449T>A (p.Val483=)
c.957T>A (p.Val319=)
2g.27364431A>CCA346196416EIF2B4,GTF3C2-AS2c.1541T>G (p.Val514Gly)
c.*807T>G (n.*807T>G)
c.1538T>G (p.Val513Gly)
c.1601T>G (p.Val534Gly)
n.534T>G
c.1604T>G (p.Val535Gly)
c.1532T>G (p.Val511Gly)
c.1496T>G (p.Val499Gly)
c.1493T>G (p.Val498Gly)
c.923T>G (p.Val308Gly)
n.1772-2993A>C
c.1448T>G (p.Val483Gly)
c.956T>G (p.Val319Gly)
2g.27364431A>GCA346196418EIF2B4,GTF3C2-AS2c.1541T>C (p.Val514Ala)
c.*807T>C (n.*807T>C)
c.1538T>C (p.Val513Ala)
c.1601T>C (p.Val534Ala)
n.534T>C
c.1604T>C (p.Val535Ala)
c.1532T>C (p.Val511Ala)
c.1496T>C (p.Val499Ala)
c.1493T>C (p.Val498Ala)
c.923T>C (p.Val308Ala)
n.1772-2993A>G
c.1448T>C (p.Val483Ala)
c.956T>C (p.Val319Ala)
2g.27364431A>TCA346196420EIF2B4,GTF3C2-AS2c.1541T>A (p.Val514Asp)
c.*807T>A (n.*807T>A)
c.1538T>A (p.Val513Asp)
c.1601T>A (p.Val534Asp)
n.534T>A
c.1604T>A (p.Val535Asp)
c.1532T>A (p.Val511Asp)
c.1496T>A (p.Val499Asp)
c.1493T>A (p.Val498Asp)
c.923T>A (p.Val308Asp)
n.1772-2993A>T
c.1448T>A (p.Val483Asp)
c.956T>A (p.Val319Asp)
2g.27364432C>ACA346196422EIF2B4,GTF3C2-AS2c.1540G>T (p.Val514Phe)
c.*806G>T (n.*806G>T)
c.1537G>T (p.Val513Phe)
c.1600G>T (p.Val534Phe)
n.533G>T
c.1603G>T (p.Val535Phe)
c.1531G>T (p.Val511Phe)
c.1495G>T (p.Val499Phe)
c.1492G>T (p.Val498Phe)
c.922G>T (p.Val308Phe)
n.1772-2992C>A
c.1447G>T (p.Val483Phe)
c.955G>T (p.Val319Phe)
2g.27364432C>GCA346196423EIF2B4,GTF3C2-AS2c.1540G>C (p.Val514Leu)
c.*806G>C (n.*806G>C)
c.1537G>C (p.Val513Leu)
c.1600G>C (p.Val534Leu)
n.533G>C
c.1603G>C (p.Val535Leu)
c.1531G>C (p.Val511Leu)
c.1495G>C (p.Val499Leu)
c.1492G>C (p.Val498Leu)
c.922G>C (p.Val308Leu)
n.1772-2992C>G
c.1447G>C (p.Val483Leu)
c.955G>C (p.Val319Leu)
2g.27364432C>TCA346196425EIF2B4,GTF3C2-AS2c.1540G>A (p.Val514Ile)
c.*806G>A (n.*806G>A)
c.1537G>A (p.Val513Ile)
c.1600G>A (p.Val534Ile)
n.533G>A
c.1603G>A (p.Val535Ile)
c.1531G>A (p.Val511Ile)
c.1495G>A (p.Val499Ile)
c.1492G>A (p.Val498Ile)
c.922G>A (p.Val308Ile)
n.1772-2992C>T
c.1447G>A (p.Val483Ile)
c.955G>A (p.Val319Ile)
2g.27364433A>CCA425409692EIF2B4,GTF3C2-AS2c.1539T>G (p.Pro513=)
c.*805T>G (n.*805T>G)
c.1536T>G (p.Pro512=)
c.1599T>G (p.Pro533=)
n.532T>G
c.1602T>G (p.Pro534=)
c.1530T>G (p.Pro510=)
c.1494T>G (p.Pro498=)
c.1491T>G (p.Pro497=)
c.921T>G (p.Pro307=)
n.1772-2991A>C
c.1446T>G (p.Pro482=)
c.954T>G (p.Pro318=)
2g.27364433A>GCA425409688EIF2B4,GTF3C2-AS2c.1539T>C (p.Pro513=)
c.*805T>C (n.*805T>C)
c.1536T>C (p.Pro512=)
c.1599T>C (p.Pro533=)
n.532T>C
c.1602T>C (p.Pro534=)
c.1530T>C (p.Pro510=)
c.1494T>C (p.Pro498=)
c.1491T>C (p.Pro497=)
c.921T>C (p.Pro307=)
n.1772-2991A>G
c.1446T>C (p.Pro482=)
c.954T>C (p.Pro318=)
2g.27364433A>TCA425409690EIF2B4,GTF3C2-AS2c.1539T>A (p.Pro513=)
c.*805T>A (n.*805T>A)
c.1536T>A (p.Pro512=)
c.1599T>A (p.Pro533=)
n.532T>A
c.1602T>A (p.Pro534=)
c.1530T>A (p.Pro510=)
c.1494T>A (p.Pro498=)
c.1491T>A (p.Pro497=)
c.921T>A (p.Pro307=)
n.1772-2991A>T
c.1446T>A (p.Pro482=)
c.954T>A (p.Pro318=)
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)

Number of alleles fetched