Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27364507A=CA1240242808EIF2B4,GTF3C2-AS2c.1465T= (p.Tyr489=)
c.*731T= (n.*731T=)
c.1462T= (p.Tyr488=)
c.1525T= (p.Tyr509=)
n.458T=
c.1528T= (p.Tyr510=)
c.1456T= (p.Tyr486=)
c.1420T= (p.Tyr474=)
c.1417T= (p.Tyr473=)
c.847T= (p.Tyr283=)
n.1772-2917A=
c.1372T= (p.Tyr458=)
c.880T= (p.Tyr294=)
2g.27364507A>CCA346196622EIF2B4,GTF3C2-AS2c.1465T>G (p.Tyr489Asp)
c.*731T>G (n.*731T>G)
c.1462T>G (p.Tyr488Asp)
c.1525T>G (p.Tyr509Asp)
n.458T>G
c.1528T>G (p.Tyr510Asp)
c.1456T>G (p.Tyr486Asp)
c.1420T>G (p.Tyr474Asp)
c.1417T>G (p.Tyr473Asp)
c.847T>G (p.Tyr283Asp)
n.1772-2917A>C
c.1372T>G (p.Tyr458Asp)
c.880T>G (p.Tyr294Asp)
2g.27364507A>GCA116653EIF2B4,GTF3C2-AS2c.1465T>C (p.Tyr489His)
c.*731T>C (n.*731T>C)
c.1462T>C (p.Tyr488His)
c.1525T>C (p.Tyr509His)
n.458T>C
c.1528T>C (p.Tyr510His)
c.1456T>C (p.Tyr486His)
c.1420T>C (p.Tyr474His)
c.1417T>C (p.Tyr473His)
c.847T>C (p.Tyr283His)
n.1772-2917A>G
c.1372T>C (p.Tyr458His)
c.880T>C (p.Tyr294His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364507A>TCA346196623EIF2B4,GTF3C2-AS2c.1465T>A (p.Tyr489Asn)
c.*731T>A (n.*731T>A)
c.1462T>A (p.Tyr488Asn)
c.1525T>A (p.Tyr509Asn)
n.458T>A
c.1528T>A (p.Tyr510Asn)
c.1456T>A (p.Tyr486Asn)
c.1420T>A (p.Tyr474Asn)
c.1417T>A (p.Tyr473Asn)
c.847T>A (p.Tyr283Asn)
n.1772-2917A>T
c.1372T>A (p.Tyr458Asn)
c.880T>A (p.Tyr294Asn)
2g.27364508G>ACA44509150EIF2B4,GTF3C2-AS2c.1464C>T (p.Val488=)
c.*730C>T (n.*730C>T)
c.1461C>T (p.Val487=)
c.1524C>T (p.Val508=)
n.457C>T
c.1527C>T (p.Val509=)
c.1455C>T (p.Val485=)
c.1419C>T (p.Val473=)
c.1416C>T (p.Val472=)
c.846C>T (p.Val282=)
n.1772-2916G>A
c.1371C>T (p.Val457=)
c.879C>T (p.Val293=)
 dbSNP
2g.27364508G>CCA425409770EIF2B4,GTF3C2-AS2c.1464C>G (p.Val488=)
c.*730C>G (n.*730C>G)
c.1461C>G (p.Val487=)
c.1524C>G (p.Val508=)
n.457C>G
c.1527C>G (p.Val509=)
c.1455C>G (p.Val485=)
c.1419C>G (p.Val473=)
c.1416C>G (p.Val472=)
c.846C>G (p.Val282=)
n.1772-2916G>C
c.1371C>G (p.Val457=)
c.879C>G (p.Val293=)
2g.27364508G=CA1240242809EIF2B4,GTF3C2-AS2c.1464C= (p.Val488=)
c.*730C= (n.*730C=)
c.1461C= (p.Val487=)
c.1524C= (p.Val508=)
n.457C=
c.1527C= (p.Val509=)
c.1455C= (p.Val485=)
c.1419C= (p.Val473=)
c.1416C= (p.Val472=)
c.846C= (p.Val282=)
n.1772-2916G=
c.1371C= (p.Val457=)
c.879C= (p.Val293=)
2g.27364508G>TCA425409771EIF2B4,GTF3C2-AS2c.1464C>A (p.Val488=)
c.*730C>A (n.*730C>A)
c.1461C>A (p.Val487=)
c.1524C>A (p.Val508=)
n.457C>A
c.1527C>A (p.Val509=)
c.1455C>A (p.Val485=)
c.1419C>A (p.Val473=)
c.1416C>A (p.Val472=)
c.846C>A (p.Val282=)
n.1772-2916G>T
c.1371C>A (p.Val457=)
c.879C>A (p.Val293=)
2g.27364509A>CCA346196624EIF2B4,GTF3C2-AS2c.1463T>G (p.Val488Gly)
c.*729T>G (n.*729T>G)
c.1460T>G (p.Val487Gly)
c.1523T>G (p.Val508Gly)
n.456T>G
c.1526T>G (p.Val509Gly)
c.1454T>G (p.Val485Gly)
c.1418T>G (p.Val473Gly)
c.1415T>G (p.Val472Gly)
c.845T>G (p.Val282Gly)
n.1772-2915A>C
c.1370T>G (p.Val457Gly)
c.878T>G (p.Val293Gly)
2g.27364509A>GCA346196625EIF2B4,GTF3C2-AS2c.1463T>C (p.Val488Ala)
c.*729T>C (n.*729T>C)
c.1460T>C (p.Val487Ala)
c.1523T>C (p.Val508Ala)
n.456T>C
c.1526T>C (p.Val509Ala)
c.1454T>C (p.Val485Ala)
c.1418T>C (p.Val473Ala)
c.1415T>C (p.Val472Ala)
c.845T>C (p.Val282Ala)
n.1772-2915A>G
c.1370T>C (p.Val457Ala)
c.878T>C (p.Val293Ala)
2g.27364509A>TCA346196626EIF2B4,GTF3C2-AS2c.1463T>A (p.Val488Asp)
c.*729T>A (n.*729T>A)
c.1460T>A (p.Val487Asp)
c.1523T>A (p.Val508Asp)
n.456T>A
c.1526T>A (p.Val509Asp)
c.1454T>A (p.Val485Asp)
c.1418T>A (p.Val473Asp)
c.1415T>A (p.Val472Asp)
c.845T>A (p.Val282Asp)
n.1772-2915A>T
c.1370T>A (p.Val457Asp)
c.878T>A (p.Val293Asp)
2g.27364510C>ACA346196628EIF2B4,GTF3C2-AS2c.1462G>T (p.Val488Phe)
c.*728G>T (n.*728G>T)
c.1459G>T (p.Val487Phe)
c.1522G>T (p.Val508Phe)
n.455G>T
c.1525G>T (p.Val509Phe)
c.1453G>T (p.Val485Phe)
c.1417G>T (p.Val473Phe)
c.1414G>T (p.Val472Phe)
c.844G>T (p.Val282Phe)
n.1772-2914C>A
c.1369G>T (p.Val457Phe)
c.877G>T (p.Val293Phe)
2g.27364510C=CA1240242810EIF2B4,GTF3C2-AS2c.1462G= (p.Val488=)
c.*728G= (n.*728G=)
c.1459G= (p.Val487=)
c.1522G= (p.Val508=)
n.455G=
c.1525G= (p.Val509=)
c.1453G= (p.Val485=)
c.1417G= (p.Val473=)
c.1414G= (p.Val472=)
c.844G= (p.Val282=)
n.1772-2914C=
c.1369G= (p.Val457=)
c.877G= (p.Val293=)
2g.27364510C>GCA346196629EIF2B4,GTF3C2-AS2c.1462G>C (p.Val488Leu)
c.*728G>C (n.*728G>C)
c.1459G>C (p.Val487Leu)
c.1522G>C (p.Val508Leu)
n.455G>C
c.1525G>C (p.Val509Leu)
c.1453G>C (p.Val485Leu)
c.1417G>C (p.Val473Leu)
c.1414G>C (p.Val472Leu)
c.844G>C (p.Val282Leu)
n.1772-2914C>G
c.1369G>C (p.Val457Leu)
c.877G>C (p.Val293Leu)
 gnomAD v4
2g.27364510C>TCA346196627EIF2B4,GTF3C2-AS2c.1462G>A (p.Val488Ile)
c.*728G>A (n.*728G>A)
c.1459G>A (p.Val487Ile)
c.1522G>A (p.Val508Ile)
n.455G>A
c.1525G>A (p.Val509Ile)
c.1453G>A (p.Val485Ile)
c.1417G>A (p.Val473Ile)
c.1414G>A (p.Val472Ile)
c.844G>A (p.Val282Ile)
n.1772-2914C>T
c.1369G>A (p.Val457Ile)
c.877G>A (p.Val293Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.27364511T>ACA425409772EIF2B4,GTF3C2-AS2c.1461A>T (p.Leu487=)
c.*727A>T (n.*727A>T)
c.1458A>T (p.Leu486=)
c.1521A>T (p.Leu507=)
n.454A>T
c.1524A>T (p.Leu508=)
c.1452A>T (p.Leu484=)
c.1416A>T (p.Leu472=)
c.1413A>T (p.Leu471=)
c.843A>T (p.Leu281=)
n.1772-2913T>A
c.1368A>T (p.Leu456=)
c.876A>T (p.Leu292=)
2g.27364511T>CCA425409773EIF2B4,GTF3C2-AS2c.1461A>G (p.Leu487=)
c.*727A>G (n.*727A>G)
c.1458A>G (p.Leu486=)
c.1521A>G (p.Leu507=)
n.454A>G
c.1524A>G (p.Leu508=)
c.1452A>G (p.Leu484=)
c.1416A>G (p.Leu472=)
c.1413A>G (p.Leu471=)
c.843A>G (p.Leu281=)
n.1772-2913T>C
c.1368A>G (p.Leu456=)
c.876A>G (p.Leu292=)
2g.27364511T>GCA425409774EIF2B4,GTF3C2-AS2c.1461A>C (p.Leu487=)
c.*727A>C (n.*727A>C)
c.1458A>C (p.Leu486=)
c.1521A>C (p.Leu507=)
n.454A>C
c.1524A>C (p.Leu508=)
c.1452A>C (p.Leu484=)
c.1416A>C (p.Leu472=)
c.1413A>C (p.Leu471=)
c.843A>C (p.Leu281=)
n.1772-2913T>G
c.1368A>C (p.Leu456=)
c.876A>C (p.Leu292=)
2g.27364512A>CCA346196630EIF2B4,GTF3C2-AS2c.1460T>G (p.Leu487Arg)
c.*726T>G (n.*726T>G)
c.1457T>G (p.Leu486Arg)
c.1520T>G (p.Leu507Arg)
n.453T>G
c.1523T>G (p.Leu508Arg)
c.1451T>G (p.Leu484Arg)
c.1415T>G (p.Leu472Arg)
c.1412T>G (p.Leu471Arg)
c.842T>G (p.Leu281Arg)
n.1772-2912A>C
c.1367T>G (p.Leu456Arg)
c.875T>G (p.Leu292Arg)
2g.27364512A>GCA346196631EIF2B4,GTF3C2-AS2c.1460T>C (p.Leu487Pro)
c.*726T>C (n.*726T>C)
c.1457T>C (p.Leu486Pro)
c.1520T>C (p.Leu507Pro)
n.453T>C
c.1523T>C (p.Leu508Pro)
c.1451T>C (p.Leu484Pro)
c.1415T>C (p.Leu472Pro)
c.1412T>C (p.Leu471Pro)
c.842T>C (p.Leu281Pro)
n.1772-2912A>G
c.1367T>C (p.Leu456Pro)
c.875T>C (p.Leu292Pro)
2g.27364512A>TCA346196632EIF2B4,GTF3C2-AS2c.1460T>A (p.Leu487Gln)
c.*726T>A (n.*726T>A)
c.1457T>A (p.Leu486Gln)
c.1520T>A (p.Leu507Gln)
n.453T>A
c.1523T>A (p.Leu508Gln)
c.1451T>A (p.Leu484Gln)
c.1415T>A (p.Leu472Gln)
c.1412T>A (p.Leu471Gln)
c.842T>A (p.Leu281Gln)
n.1772-2912A>T
c.1367T>A (p.Leu456Gln)
c.875T>A (p.Leu292Gln)
2g.27364513G>ACA1576568EIF2B4,GTF3C2-AS2c.1459C>T (p.Leu487=)
c.*725C>T (n.*725C>T)
c.1456C>T (p.Leu486=)
c.1519C>T (p.Leu507=)
n.452C>T
c.1522C>T (p.Leu508=)
c.1450C>T (p.Leu484=)
c.1414C>T (p.Leu472=)
c.1411C>T (p.Leu471=)
c.841C>T (p.Leu281=)
n.1772-2911G>A
c.1366C>T (p.Leu456=)
c.874C>T (p.Leu292=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364513G>CCA346196633EIF2B4,GTF3C2-AS2c.1459C>G (p.Leu487Val)
c.*725C>G (n.*725C>G)
c.1456C>G (p.Leu486Val)
c.1519C>G (p.Leu507Val)
n.452C>G
c.1522C>G (p.Leu508Val)
c.1450C>G (p.Leu484Val)
c.1414C>G (p.Leu472Val)
c.1411C>G (p.Leu471Val)
c.841C>G (p.Leu281Val)
n.1772-2911G>C
c.1366C>G (p.Leu456Val)
c.874C>G (p.Leu292Val)
 gnomAD v4
2g.27364513G=CA1240242811EIF2B4,GTF3C2-AS2c.1459C= (p.Leu487=)
c.*725C= (n.*725C=)
c.1456C= (p.Leu486=)
c.1519C= (p.Leu507=)
n.452C=
c.1522C= (p.Leu508=)
c.1450C= (p.Leu484=)
c.1414C= (p.Leu472=)
c.1411C= (p.Leu471=)
c.841C= (p.Leu281=)
n.1772-2911G=
c.1366C= (p.Leu456=)
c.874C= (p.Leu292=)
2g.27364513G>TCA346196634EIF2B4,GTF3C2-AS2c.1459C>A (p.Leu487Ile)
c.*725C>A (n.*725C>A)
c.1456C>A (p.Leu486Ile)
c.1519C>A (p.Leu507Ile)
n.452C>A
c.1522C>A (p.Leu508Ile)
c.1450C>A (p.Leu484Ile)
c.1414C>A (p.Leu472Ile)
c.1411C>A (p.Leu471Ile)
c.841C>A (p.Leu281Ile)
n.1772-2911G>T
c.1366C>A (p.Leu456Ile)
c.874C>A (p.Leu292Ile)
2g.27364514A>CCA346196635EIF2B4,GTF3C2-AS2c.1458T>G (p.Asn486Lys)
c.*724T>G (n.*724T>G)
c.1455T>G (p.Asn485Lys)
c.1518T>G (p.Asn506Lys)
n.451T>G
c.1521T>G (p.Asn507Lys)
c.1449T>G (p.Asn483Lys)
c.1413T>G (p.Asn471Lys)
c.1410T>G (p.Asn470Lys)
c.840T>G (p.Asn280Lys)
n.1772-2910A>C
c.1365T>G (p.Asn455Lys)
c.873T>G (p.Asn291Lys)
2g.27364514A>GCA425409775EIF2B4,GTF3C2-AS2c.1458T>C (p.Asn486=)
c.*724T>C (n.*724T>C)
c.1455T>C (p.Asn485=)
c.1518T>C (p.Asn506=)
n.451T>C
c.1521T>C (p.Asn507=)
c.1449T>C (p.Asn483=)
c.1413T>C (p.Asn471=)
c.1410T>C (p.Asn470=)
c.840T>C (p.Asn280=)
n.1772-2910A>G
c.1365T>C (p.Asn455=)
c.873T>C (p.Asn291=)
2g.27364514A>TCA346196636EIF2B4,GTF3C2-AS2c.1458T>A (p.Asn486Lys)
c.*724T>A (n.*724T>A)
c.1455T>A (p.Asn485Lys)
c.1518T>A (p.Asn506Lys)
n.451T>A
c.1521T>A (p.Asn507Lys)
c.1449T>A (p.Asn483Lys)
c.1413T>A (p.Asn471Lys)
c.1410T>A (p.Asn470Lys)
c.840T>A (p.Asn280Lys)
n.1772-2910A>T
c.1365T>A (p.Asn455Lys)
c.873T>A (p.Asn291Lys)
2g.27364515T>ACA346196637EIF2B4,GTF3C2-AS2c.1457A>T (p.Asn486Ile)
c.*723A>T (n.*723A>T)
c.1454A>T (p.Asn485Ile)
c.1517A>T (p.Asn506Ile)
n.450A>T
c.1520A>T (p.Asn507Ile)
c.1448A>T (p.Asn483Ile)
c.1412A>T (p.Asn471Ile)
c.1409A>T (p.Asn470Ile)
c.839A>T (p.Asn280Ile)
n.1772-2909T>A
c.1364A>T (p.Asn455Ile)
c.872A>T (p.Asn291Ile)
2g.27364515T>CCA346196638EIF2B4,GTF3C2-AS2c.1457A>G (p.Asn486Ser)
c.*723A>G (n.*723A>G)
c.1454A>G (p.Asn485Ser)
c.1517A>G (p.Asn506Ser)
n.450A>G
c.1520A>G (p.Asn507Ser)
c.1448A>G (p.Asn483Ser)
c.1412A>G (p.Asn471Ser)
c.1409A>G (p.Asn470Ser)
c.839A>G (p.Asn280Ser)
n.1772-2909T>C
c.1364A>G (p.Asn455Ser)
c.872A>G (p.Asn291Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.27364515T>GCA346196639EIF2B4,GTF3C2-AS2c.1457A>C (p.Asn486Thr)
c.*723A>C (n.*723A>C)
c.1454A>C (p.Asn485Thr)
c.1517A>C (p.Asn506Thr)
n.450A>C
c.1520A>C (p.Asn507Thr)
c.1448A>C (p.Asn483Thr)
c.1412A>C (p.Asn471Thr)
c.1409A>C (p.Asn470Thr)
c.839A>C (p.Asn280Thr)
n.1772-2909T>G
c.1364A>C (p.Asn455Thr)
c.872A>C (p.Asn291Thr)
2g.27364515T=CA1240242812EIF2B4,GTF3C2-AS2c.1457A= (p.Asn486=)
c.*723A= (n.*723A=)
c.1454A= (p.Asn485=)
c.1517A= (p.Asn506=)
n.450A=
c.1520A= (p.Asn507=)
c.1448A= (p.Asn483=)
c.1412A= (p.Asn471=)
c.1409A= (p.Asn470=)
c.839A= (p.Asn280=)
n.1772-2909T=
c.1364A= (p.Asn455=)
c.872A= (p.Asn291=)
2g.27364516T>ACA346196640EIF2B4,GTF3C2-AS2c.1456A>T (p.Asn486Tyr)
c.*722A>T (n.*722A>T)
c.1453A>T (p.Asn485Tyr)
c.1516A>T (p.Asn506Tyr)
n.449A>T
c.1519A>T (p.Asn507Tyr)
c.1447A>T (p.Asn483Tyr)
c.1411A>T (p.Asn471Tyr)
c.1408A>T (p.Asn470Tyr)
c.838A>T (p.Asn280Tyr)
n.1772-2908T>A
c.1363A>T (p.Asn455Tyr)
c.871A>T (p.Asn291Tyr)
2g.27364516T>CCA346196641EIF2B4,GTF3C2-AS2c.1456A>G (p.Asn486Asp)
c.*722A>G (n.*722A>G)
c.1453A>G (p.Asn485Asp)
c.1516A>G (p.Asn506Asp)
n.449A>G
c.1519A>G (p.Asn507Asp)
c.1447A>G (p.Asn483Asp)
c.1411A>G (p.Asn471Asp)
c.1408A>G (p.Asn470Asp)
c.838A>G (p.Asn280Asp)
n.1772-2908T>C
c.1363A>G (p.Asn455Asp)
c.871A>G (p.Asn291Asp)
 gnomAD v4
2g.27364516T>GCA346196642EIF2B4,GTF3C2-AS2c.1456A>C (p.Asn486His)
c.*722A>C (n.*722A>C)
c.1453A>C (p.Asn485His)
c.1516A>C (p.Asn506His)
n.449A>C
c.1519A>C (p.Asn507His)
c.1447A>C (p.Asn483His)
c.1411A>C (p.Asn471His)
c.1408A>C (p.Asn470His)
c.838A>C (p.Asn280His)
n.1772-2908T>G
c.1363A>C (p.Asn455His)
c.871A>C (p.Asn291His)
2g.27364517C>ACA346196644EIF2B4,GTF3C2-AS2c.1455G>T (p.Leu485Phe)
c.*721G>T (n.*721G>T)
c.1452G>T (p.Leu484Phe)
c.1515G>T (p.Leu505Phe)
n.448G>T
c.1518G>T (p.Leu506Phe)
c.1446G>T (p.Leu482Phe)
c.1410G>T (p.Leu470Phe)
c.1407G>T (p.Leu469Phe)
c.837G>T (p.Leu279Phe)
n.1772-2907C>A
c.1362G>T (p.Leu454Phe)
c.870G>T (p.Leu290Phe)
2g.27364517C>GCA346196643EIF2B4,GTF3C2-AS2c.1455G>C (p.Leu485Phe)
c.*721G>C (n.*721G>C)
c.1452G>C (p.Leu484Phe)
c.1515G>C (p.Leu505Phe)
n.448G>C
c.1518G>C (p.Leu506Phe)
c.1446G>C (p.Leu482Phe)
c.1410G>C (p.Leu470Phe)
c.1407G>C (p.Leu469Phe)
c.837G>C (p.Leu279Phe)
n.1772-2907C>G
c.1362G>C (p.Leu454Phe)
c.870G>C (p.Leu290Phe)
 gnomAD v4
2g.27364517C>TCA425409776EIF2B4,GTF3C2-AS2c.1455G>A (p.Leu485=)
c.*721G>A (n.*721G>A)
c.1452G>A (p.Leu484=)
c.1515G>A (p.Leu505=)
n.448G>A
c.1518G>A (p.Leu506=)
c.1446G>A (p.Leu482=)
c.1410G>A (p.Leu470=)
c.1407G>A (p.Leu469=)
c.837G>A (p.Leu279=)
n.1772-2907C>T
c.1362G>A (p.Leu454=)
c.870G>A (p.Leu290=)
2g.27364521_27364523delCA2658336133EIF2B4,GTF3C2-AS2c.1453_1455del (p.Leu485del)
c.*719_*721del (n.*719_*721del)
c.1450_1452del (p.Leu484del)
c.1513_1515del (p.Leu505del)
n.446_448del
c.1516_1518del (p.Leu506del)
c.1444_1446del (p.Leu482del)
c.1408_1410del (p.Leu470del)
c.1405_1407del (p.Leu469del)
c.835_837del (p.Leu279del)
n.1772-2903_1772-2901del
c.1360_1362del (p.Leu454del)
c.868_870del (p.Leu290del)
 gnomAD v4
2g.27364518A>CCA346196645EIF2B4,GTF3C2-AS2c.1454T>G (p.Leu485Trp)
c.*720T>G (n.*720T>G)
c.1451T>G (p.Leu484Trp)
c.1514T>G (p.Leu505Trp)
n.447T>G
c.1517T>G (p.Leu506Trp)
c.1445T>G (p.Leu482Trp)
c.1409T>G (p.Leu470Trp)
c.1406T>G (p.Leu469Trp)
c.836T>G (p.Leu279Trp)
n.1772-2906A>C
c.1361T>G (p.Leu454Trp)
c.869T>G (p.Leu290Trp)
2g.27364518A>GCA346196647EIF2B4,GTF3C2-AS2c.1454T>C (p.Leu485Ser)
c.*720T>C (n.*720T>C)
c.1451T>C (p.Leu484Ser)
c.1514T>C (p.Leu505Ser)
n.447T>C
c.1517T>C (p.Leu506Ser)
c.1445T>C (p.Leu482Ser)
c.1409T>C (p.Leu470Ser)
c.1406T>C (p.Leu469Ser)
c.836T>C (p.Leu279Ser)
n.1772-2906A>G
c.1361T>C (p.Leu454Ser)
c.869T>C (p.Leu290Ser)
2g.27364518A>TCA346196646EIF2B4,GTF3C2-AS2c.1454T>A (p.Leu485Ter)
c.*720T>A (n.*720T>A)
c.1451T>A (p.Leu484Ter)
c.1514T>A (p.Leu505Ter)
n.447T>A
c.1517T>A (p.Leu506Ter)
c.1445T>A (p.Leu482Ter)
c.1409T>A (p.Leu470Ter)
c.1406T>A (p.Leu469Ter)
c.836T>A (p.Leu279Ter)
n.1772-2906A>T
c.1361T>A (p.Leu454Ter)
c.869T>A (p.Leu290Ter)
2g.27364519A=CA1240242813EIF2B4,GTF3C2-AS2c.1453T= (p.Leu485=)
c.*719T= (n.*719T=)
c.1450T= (p.Leu484=)
c.1513T= (p.Leu505=)
n.446T=
c.1516T= (p.Leu506=)
c.1444T= (p.Leu482=)
c.1408T= (p.Leu470=)
c.1405T= (p.Leu469=)
c.835T= (p.Leu279=)
n.1772-2905A=
c.1360T= (p.Leu454=)
c.868T= (p.Leu290=)
2g.27364519A>CCA346196648EIF2B4,GTF3C2-AS2c.1453T>G (p.Leu485Val)
c.*719T>G (n.*719T>G)
c.1450T>G (p.Leu484Val)
c.1513T>G (p.Leu505Val)
n.446T>G
c.1516T>G (p.Leu506Val)
c.1444T>G (p.Leu482Val)
c.1408T>G (p.Leu470Val)
c.1405T>G (p.Leu469Val)
c.835T>G (p.Leu279Val)
n.1772-2905A>C
c.1360T>G (p.Leu454Val)
c.868T>G (p.Leu290Val)
2g.27364519A>GCA425409777EIF2B4,GTF3C2-AS2c.1453T>C (p.Leu485=)
c.*719T>C (n.*719T>C)
c.1450T>C (p.Leu484=)
c.1513T>C (p.Leu505=)
n.446T>C
c.1516T>C (p.Leu506=)
c.1444T>C (p.Leu482=)
c.1408T>C (p.Leu470=)
c.1405T>C (p.Leu469=)
c.835T>C (p.Leu279=)
n.1772-2905A>G
c.1360T>C (p.Leu454=)
c.868T>C (p.Leu290=)
 dbSNP gnomAD v3 gnomAD v4
2g.27364519A>TCA346196649EIF2B4,GTF3C2-AS2c.1453T>A (p.Leu485Met)
c.*719T>A (n.*719T>A)
c.1450T>A (p.Leu484Met)
c.1513T>A (p.Leu505Met)
n.446T>A
c.1516T>A (p.Leu506Met)
c.1444T>A (p.Leu482Met)
c.1408T>A (p.Leu470Met)
c.1405T>A (p.Leu469Met)
c.835T>A (p.Leu279Met)
n.1772-2905A>T
c.1360T>A (p.Leu454Met)
c.868T>A (p.Leu290Met)
2g.27364520C>ACA346196650EIF2B4,GTF3C2-AS2c.1452G>T (p.Leu484Phe)
c.*718G>T (n.*718G>T)
c.1449G>T (p.Leu483Phe)
c.1512G>T (p.Leu504Phe)
n.445G>T
c.1515G>T (p.Leu505Phe)
c.1443G>T (p.Leu481Phe)
c.1407G>T (p.Leu469Phe)
c.1404G>T (p.Leu468Phe)
c.834G>T (p.Leu278Phe)
n.1772-2904C>A
c.1359G>T (p.Leu453Phe)
c.867G>T (p.Leu289Phe)
2g.27364520C>GCA346196651EIF2B4,GTF3C2-AS2c.1452G>C (p.Leu484Phe)
c.*718G>C (n.*718G>C)
c.1449G>C (p.Leu483Phe)
c.1512G>C (p.Leu504Phe)
n.445G>C
c.1515G>C (p.Leu505Phe)
c.1443G>C (p.Leu481Phe)
c.1407G>C (p.Leu469Phe)
c.1404G>C (p.Leu468Phe)
c.834G>C (p.Leu278Phe)
n.1772-2904C>G
c.1359G>C (p.Leu453Phe)
c.867G>C (p.Leu289Phe)
2g.27364520C>TCA425409778EIF2B4,GTF3C2-AS2c.1452G>A (p.Leu484=)
c.*718G>A (n.*718G>A)
c.1449G>A (p.Leu483=)
c.1512G>A (p.Leu504=)
n.445G>A
c.1515G>A (p.Leu505=)
c.1443G>A (p.Leu481=)
c.1407G>A (p.Leu469=)
c.1404G>A (p.Leu468=)
c.834G>A (p.Leu278=)
n.1772-2904C>T
c.1359G>A (p.Leu453=)
c.867G>A (p.Leu289=)
2g.27364521A>CCA346196652EIF2B4,GTF3C2-AS2c.1451T>G (p.Leu484Trp)
c.*717T>G (n.*717T>G)
c.1448T>G (p.Leu483Trp)
c.1511T>G (p.Leu504Trp)
n.444T>G
c.1514T>G (p.Leu505Trp)
c.1442T>G (p.Leu481Trp)
c.1406T>G (p.Leu469Trp)
c.1403T>G (p.Leu468Trp)
c.833T>G (p.Leu278Trp)
n.1772-2903A>C
c.1358T>G (p.Leu453Trp)
c.866T>G (p.Leu289Trp)

Number of alleles fetched