Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27364737G>ACA425409859EIF2B4,GTF3C2-AS2c.1353C>T (p.Ala451=)
c.*619C>T (n.*619C>T)
c.1350C>T (p.Ala450=)
c.1413C>T (p.Ala471=)
n.346C>T
c.1416C>T (p.Ala472=)
c.1344C>T (p.Ala448=)
c.1308C>T (p.Ala436=)
c.1305C>T (p.Ala435=)
c.735C>T (p.Ala245=)
n.1772-2687G>A
c.1260C>T (p.Ala420=)
c.768C>T (p.Ala256=)
2g.27364737G>CCA425409860EIF2B4,GTF3C2-AS2c.1353C>G (p.Ala451=)
c.*619C>G (n.*619C>G)
c.1350C>G (p.Ala450=)
c.1413C>G (p.Ala471=)
n.346C>G
c.1416C>G (p.Ala472=)
c.1344C>G (p.Ala448=)
c.1308C>G (p.Ala436=)
c.1305C>G (p.Ala435=)
c.735C>G (p.Ala245=)
n.1772-2687G>C
c.1260C>G (p.Ala420=)
c.768C>G (p.Ala256=)
2g.27364737G>TCA425409858EIF2B4,GTF3C2-AS2c.1353C>A (p.Ala451=)
c.*619C>A (n.*619C>A)
c.1350C>A (p.Ala450=)
c.1413C>A (p.Ala471=)
n.346C>A
c.1416C>A (p.Ala472=)
c.1344C>A (p.Ala448=)
c.1308C>A (p.Ala436=)
c.1305C>A (p.Ala435=)
c.735C>A (p.Ala245=)
n.1772-2687G>T
c.1260C>A (p.Ala420=)
c.768C>A (p.Ala256=)
2g.27364738G>ACA346196872EIF2B4,GTF3C2-AS2c.1352C>T (p.Ala451Val)
c.*618C>T (n.*618C>T)
c.1349C>T (p.Ala450Val)
c.1412C>T (p.Ala471Val)
n.345C>T
c.1415C>T (p.Ala472Val)
c.1343C>T (p.Ala448Val)
c.1307C>T (p.Ala436Val)
c.1304C>T (p.Ala435Val)
c.734C>T (p.Ala245Val)
n.1772-2686G>A
c.1259C>T (p.Ala420Val)
c.767C>T (p.Ala256Val)
2g.27364738G>CCA346196873EIF2B4,GTF3C2-AS2c.1352C>G (p.Ala451Gly)
c.*618C>G (n.*618C>G)
c.1349C>G (p.Ala450Gly)
c.1412C>G (p.Ala471Gly)
n.345C>G
c.1415C>G (p.Ala472Gly)
c.1343C>G (p.Ala448Gly)
c.1307C>G (p.Ala436Gly)
c.1304C>G (p.Ala435Gly)
c.734C>G (p.Ala245Gly)
n.1772-2686G>C
c.1259C>G (p.Ala420Gly)
c.767C>G (p.Ala256Gly)
2g.27364738G>TCA346196874EIF2B4,GTF3C2-AS2c.1352C>A (p.Ala451Asp)
c.*618C>A (n.*618C>A)
c.1349C>A (p.Ala450Asp)
c.1412C>A (p.Ala471Asp)
n.345C>A
c.1415C>A (p.Ala472Asp)
c.1343C>A (p.Ala448Asp)
c.1307C>A (p.Ala436Asp)
c.1304C>A (p.Ala435Asp)
c.734C>A (p.Ala245Asp)
n.1772-2686G>T
c.1259C>A (p.Ala420Asp)
c.767C>A (p.Ala256Asp)
2g.27364739C>ACA346196876EIF2B4,GTF3C2-AS2c.1351G>T (p.Ala451Ser)
c.*617G>T (n.*617G>T)
c.1348G>T (p.Ala450Ser)
c.1411G>T (p.Ala471Ser)
n.344G>T
c.1414G>T (p.Ala472Ser)
c.1342G>T (p.Ala448Ser)
c.1306G>T (p.Ala436Ser)
c.1303G>T (p.Ala435Ser)
c.733G>T (p.Ala245Ser)
n.1772-2685C>A
c.1258G>T (p.Ala420Ser)
c.766G>T (p.Ala256Ser)
2g.27364739C>GCA346196877EIF2B4,GTF3C2-AS2c.1351G>C (p.Ala451Pro)
c.*617G>C (n.*617G>C)
c.1348G>C (p.Ala450Pro)
c.1411G>C (p.Ala471Pro)
n.344G>C
c.1414G>C (p.Ala472Pro)
c.1342G>C (p.Ala448Pro)
c.1306G>C (p.Ala436Pro)
c.1303G>C (p.Ala435Pro)
c.733G>C (p.Ala245Pro)
n.1772-2685C>G
c.1258G>C (p.Ala420Pro)
c.766G>C (p.Ala256Pro)
2g.27364739C>TCA346196878EIF2B4,GTF3C2-AS2c.1351G>A (p.Ala451Thr)
c.*617G>A (n.*617G>A)
c.1348G>A (p.Ala450Thr)
c.1411G>A (p.Ala471Thr)
n.344G>A
c.1414G>A (p.Ala472Thr)
c.1342G>A (p.Ala448Thr)
c.1306G>A (p.Ala436Thr)
c.1303G>A (p.Ala435Thr)
c.733G>A (p.Ala245Thr)
n.1772-2685C>T
c.1258G>A (p.Ala420Thr)
c.766G>A (p.Ala256Thr)
 COSMIC COSMIC
2g.27364740A=CA1240242908EIF2B4,GTF3C2-AS2c.1350T= (p.Asp450=)
c.*616T= (n.*616T=)
c.1347T= (p.Asp449=)
c.1410T= (p.Asp470=)
n.343T=
c.1413T= (p.Asp471=)
c.1341T= (p.Asp447=)
c.1305T= (p.Asp435=)
c.1302T= (p.Asp434=)
c.732T= (p.Asp244=)
n.1772-2684A=
c.1257T= (p.Asp419=)
c.765T= (p.Asp255=)
2g.27364740A>CCA346196879EIF2B4,GTF3C2-AS2c.1350T>G (p.Asp450Glu)
c.*616T>G (n.*616T>G)
c.1347T>G (p.Asp449Glu)
c.1410T>G (p.Asp470Glu)
n.343T>G
c.1413T>G (p.Asp471Glu)
c.1341T>G (p.Asp447Glu)
c.1305T>G (p.Asp435Glu)
c.1302T>G (p.Asp434Glu)
c.732T>G (p.Asp244Glu)
n.1772-2684A>C
c.1257T>G (p.Asp419Glu)
c.765T>G (p.Asp255Glu)
2g.27364740A>GCA1576599EIF2B4,GTF3C2-AS2c.1350T>C (p.Asp450=)
c.*616T>C (n.*616T>C)
c.1347T>C (p.Asp449=)
c.1410T>C (p.Asp470=)
n.343T>C
c.1413T>C (p.Asp471=)
c.1341T>C (p.Asp447=)
c.1305T>C (p.Asp435=)
c.1302T>C (p.Asp434=)
c.732T>C (p.Asp244=)
n.1772-2684A>G
c.1257T>C (p.Asp419=)
c.765T>C (p.Asp255=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364740A>TCA346196880EIF2B4,GTF3C2-AS2c.1350T>A (p.Asp450Glu)
c.*616T>A (n.*616T>A)
c.1347T>A (p.Asp449Glu)
c.1410T>A (p.Asp470Glu)
n.343T>A
c.1413T>A (p.Asp471Glu)
c.1341T>A (p.Asp447Glu)
c.1305T>A (p.Asp435Glu)
c.1302T>A (p.Asp434Glu)
c.732T>A (p.Asp244Glu)
n.1772-2684A>T
c.1257T>A (p.Asp419Glu)
c.765T>A (p.Asp255Glu)
2g.27364741T>ACA346196881EIF2B4,GTF3C2-AS2c.1349A>T (p.Asp450Val)
c.*615A>T (n.*615A>T)
c.1346A>T (p.Asp449Val)
c.1409A>T (p.Asp470Val)
n.342A>T
c.1412A>T (p.Asp471Val)
c.1340A>T (p.Asp447Val)
c.1304A>T (p.Asp435Val)
c.1301A>T (p.Asp434Val)
c.731A>T (p.Asp244Val)
n.1772-2683T>A
c.1256A>T (p.Asp419Val)
c.764A>T (p.Asp255Val)
2g.27364741T>CCA346196882EIF2B4,GTF3C2-AS2c.1349A>G (p.Asp450Gly)
c.*615A>G (n.*615A>G)
c.1346A>G (p.Asp449Gly)
c.1409A>G (p.Asp470Gly)
n.342A>G
c.1412A>G (p.Asp471Gly)
c.1340A>G (p.Asp447Gly)
c.1304A>G (p.Asp435Gly)
c.1301A>G (p.Asp434Gly)
c.731A>G (p.Asp244Gly)
n.1772-2683T>C
c.1256A>G (p.Asp419Gly)
c.764A>G (p.Asp255Gly)
2g.27364741T>GCA346196883EIF2B4,GTF3C2-AS2c.1349A>C (p.Asp450Ala)
c.*615A>C (n.*615A>C)
c.1346A>C (p.Asp449Ala)
c.1409A>C (p.Asp470Ala)
n.342A>C
c.1412A>C (p.Asp471Ala)
c.1340A>C (p.Asp447Ala)
c.1304A>C (p.Asp435Ala)
c.1301A>C (p.Asp434Ala)
c.731A>C (p.Asp244Ala)
n.1772-2683T>G
c.1256A>C (p.Asp419Ala)
c.764A>C (p.Asp255Ala)
2g.27364742C>ACA346196887EIF2B4,GTF3C2-AS2c.1348G>T (p.Asp450Tyr)
c.*614G>T (n.*614G>T)
c.1345G>T (p.Asp449Tyr)
c.1408G>T (p.Asp470Tyr)
n.341G>T
c.1411G>T (p.Asp471Tyr)
c.1339G>T (p.Asp447Tyr)
c.1303G>T (p.Asp435Tyr)
c.1300G>T (p.Asp434Tyr)
c.730G>T (p.Asp244Tyr)
n.1772-2682C>A
c.1255G>T (p.Asp419Tyr)
c.763G>T (p.Asp255Tyr)
2g.27364742C=CA1240242909EIF2B4,GTF3C2-AS2c.1348G= (p.Asp450=)
c.*614G= (n.*614G=)
c.1345G= (p.Asp449=)
c.1408G= (p.Asp470=)
n.341G=
c.1411G= (p.Asp471=)
c.1339G= (p.Asp447=)
c.1303G= (p.Asp435=)
c.1300G= (p.Asp434=)
c.730G= (p.Asp244=)
n.1772-2682C=
c.1255G= (p.Asp419=)
c.763G= (p.Asp255=)
2g.27364742C>GCA346196886EIF2B4,GTF3C2-AS2c.1348G>C (p.Asp450His)
c.*614G>C (n.*614G>C)
c.1345G>C (p.Asp449His)
c.1408G>C (p.Asp470His)
n.341G>C
c.1411G>C (p.Asp471His)
c.1339G>C (p.Asp447His)
c.1303G>C (p.Asp435His)
c.1300G>C (p.Asp434His)
c.730G>C (p.Asp244His)
n.1772-2682C>G
c.1255G>C (p.Asp419His)
c.763G>C (p.Asp255His)
2g.27364742C>TCA346196884EIF2B4,GTF3C2-AS2c.1348G>A (p.Asp450Asn)
c.*614G>A (n.*614G>A)
c.1345G>A (p.Asp449Asn)
c.1408G>A (p.Asp470Asn)
n.341G>A
c.1411G>A (p.Asp471Asn)
c.1339G>A (p.Asp447Asn)
c.1303G>A (p.Asp435Asn)
c.1300G>A (p.Asp434Asn)
c.730G>A (p.Asp244Asn)
n.1772-2682C>T
c.1255G>A (p.Asp419Asn)
c.763G>A (p.Asp255Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.27364743A>CCA425410054EIF2B4,GTF3C2-AS2c.1347T>G (p.Thr449=)
c.*613T>G (n.*613T>G)
c.1344T>G (p.Thr448=)
c.1407T>G (p.Thr469=)
n.340T>G
c.1410T>G (p.Thr470=)
c.1338T>G (p.Thr446=)
c.1302T>G (p.Thr434=)
c.1299T>G (p.Thr433=)
c.729T>G (p.Thr243=)
n.1772-2681A>C
c.1254T>G (p.Thr418=)
c.762T>G (p.Thr254=)
2g.27364743A>GCA425410053EIF2B4,GTF3C2-AS2c.1347T>C (p.Thr449=)
c.*613T>C (n.*613T>C)
c.1344T>C (p.Thr448=)
c.1407T>C (p.Thr469=)
n.340T>C
c.1410T>C (p.Thr470=)
c.1338T>C (p.Thr446=)
c.1302T>C (p.Thr434=)
c.1299T>C (p.Thr433=)
c.729T>C (p.Thr243=)
n.1772-2681A>G
c.1254T>C (p.Thr418=)
c.762T>C (p.Thr254=)
2g.27364743A>TCA425410052EIF2B4,GTF3C2-AS2c.1347T>A (p.Thr449=)
c.*613T>A (n.*613T>A)
c.1344T>A (p.Thr448=)
c.1407T>A (p.Thr469=)
n.340T>A
c.1410T>A (p.Thr470=)
c.1338T>A (p.Thr446=)
c.1302T>A (p.Thr434=)
c.1299T>A (p.Thr433=)
c.729T>A (p.Thr243=)
n.1772-2681A>T
c.1254T>A (p.Thr418=)
c.762T>A (p.Thr254=)
 gnomAD v4
2g.27364744G>ACA346196891EIF2B4,GTF3C2-AS2c.1346C>T (p.Thr449Ile)
c.*612C>T (n.*612C>T)
c.1343C>T (p.Thr448Ile)
c.1406C>T (p.Thr469Ile)
n.339C>T
c.1409C>T (p.Thr470Ile)
c.1337C>T (p.Thr446Ile)
c.1301C>T (p.Thr434Ile)
c.1298C>T (p.Thr433Ile)
c.728C>T (p.Thr243Ile)
n.1772-2680G>A
c.1253C>T (p.Thr418Ile)
c.761C>T (p.Thr254Ile)
 ClinVar dbSNP
2g.27364744G>CCA346196888EIF2B4,GTF3C2-AS2c.1346C>G (p.Thr449Ser)
c.*612C>G (n.*612C>G)
c.1343C>G (p.Thr448Ser)
c.1406C>G (p.Thr469Ser)
n.339C>G
c.1409C>G (p.Thr470Ser)
c.1337C>G (p.Thr446Ser)
c.1301C>G (p.Thr434Ser)
c.1298C>G (p.Thr433Ser)
c.728C>G (p.Thr243Ser)
n.1772-2680G>C
c.1253C>G (p.Thr418Ser)
c.761C>G (p.Thr254Ser)
2g.27364744G>TCA346196889EIF2B4,GTF3C2-AS2c.1346C>A (p.Thr449Asn)
c.*612C>A (n.*612C>A)
c.1343C>A (p.Thr448Asn)
c.1406C>A (p.Thr469Asn)
n.339C>A
c.1409C>A (p.Thr470Asn)
c.1337C>A (p.Thr446Asn)
c.1301C>A (p.Thr434Asn)
c.1298C>A (p.Thr433Asn)
c.728C>A (p.Thr243Asn)
n.1772-2680G>T
c.1253C>A (p.Thr418Asn)
c.761C>A (p.Thr254Asn)
2g.27364745T>ACA346196892EIF2B4,GTF3C2-AS2c.1345A>T (p.Thr449Ser)
c.*611A>T (n.*611A>T)
c.1342A>T (p.Thr448Ser)
c.1405A>T (p.Thr469Ser)
n.338A>T
c.1408A>T (p.Thr470Ser)
c.1336A>T (p.Thr446Ser)
c.1300A>T (p.Thr434Ser)
c.1297A>T (p.Thr433Ser)
c.727A>T (p.Thr243Ser)
n.1772-2679T>A
c.1252A>T (p.Thr418Ser)
c.760A>T (p.Thr254Ser)
2g.27364745T>CCA346196894EIF2B4,GTF3C2-AS2c.1345A>G (p.Thr449Ala)
c.*611A>G (n.*611A>G)
c.1342A>G (p.Thr448Ala)
c.1405A>G (p.Thr469Ala)
n.338A>G
c.1408A>G (p.Thr470Ala)
c.1336A>G (p.Thr446Ala)
c.1300A>G (p.Thr434Ala)
c.1297A>G (p.Thr433Ala)
c.727A>G (p.Thr243Ala)
n.1772-2679T>C
c.1252A>G (p.Thr418Ala)
c.760A>G (p.Thr254Ala)
2g.27364745T>GCA346196896EIF2B4,GTF3C2-AS2c.1345A>C (p.Thr449Pro)
c.*611A>C (n.*611A>C)
c.1342A>C (p.Thr448Pro)
c.1405A>C (p.Thr469Pro)
n.338A>C
c.1408A>C (p.Thr470Pro)
c.1336A>C (p.Thr446Pro)
c.1300A>C (p.Thr434Pro)
c.1297A>C (p.Thr433Pro)
c.727A>C (p.Thr243Pro)
n.1772-2679T>G
c.1252A>C (p.Thr418Pro)
c.760A>C (p.Thr254Pro)
2g.27364746C>ACA346196898EIF2B4,GTF3C2-AS2c.1344G>T (p.Gln448His)
c.*610G>T (n.*610G>T)
c.1341G>T (p.Gln447His)
c.1404G>T (p.Gln468His)
n.337G>T
c.1407G>T (p.Gln469His)
c.1335G>T (p.Gln445His)
c.1299G>T (p.Gln433His)
c.1296G>T (p.Gln432His)
c.726G>T (p.Gln242His)
n.1772-2678C>A
c.1251G>T (p.Gln417His)
c.759G>T (p.Gln253His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27364746C=CA1240242910EIF2B4,GTF3C2-AS2c.1344G= (p.Gln448=)
c.*610G= (n.*610G=)
c.1341G= (p.Gln447=)
c.1404G= (p.Gln468=)
n.337G=
c.1407G= (p.Gln469=)
c.1335G= (p.Gln445=)
c.1299G= (p.Gln433=)
c.1296G= (p.Gln432=)
c.726G= (p.Gln242=)
n.1772-2678C=
c.1251G= (p.Gln417=)
c.759G= (p.Gln253=)
2g.27364746C>GCA346196899EIF2B4,GTF3C2-AS2c.1344G>C (p.Gln448His)
c.*610G>C (n.*610G>C)
c.1341G>C (p.Gln447His)
c.1404G>C (p.Gln468His)
n.337G>C
c.1407G>C (p.Gln469His)
c.1335G>C (p.Gln445His)
c.1299G>C (p.Gln433His)
c.1296G>C (p.Gln432His)
c.726G>C (p.Gln242His)
n.1772-2678C>G
c.1251G>C (p.Gln417His)
c.759G>C (p.Gln253His)
2g.27364746C>TCA425410061EIF2B4,GTF3C2-AS2c.1344G>A (p.Gln448=)
c.*610G>A (n.*610G>A)
c.1341G>A (p.Gln447=)
c.1404G>A (p.Gln468=)
n.337G>A
c.1407G>A (p.Gln469=)
c.1335G>A (p.Gln445=)
c.1299G>A (p.Gln433=)
c.1296G>A (p.Gln432=)
c.726G>A (p.Gln242=)
n.1772-2678C>T
c.1251G>A (p.Gln417=)
c.759G>A (p.Gln253=)
2g.27364746_27364759delCA2658336175EIF2B4,GTF3C2-AS2c.1331_1344del (p.Cys444TyrfsTer2)
c.*597_*610del (n.*597_*610del)
c.1328_1341del (p.Cys443TyrfsTer2)
c.1391_1404del (p.Cys464TyrfsTer2)
n.324_337del
c.1394_1407del (p.Cys465TyrfsTer2)
c.1322_1335del (p.Cys441TyrfsTer2)
c.1286_1299del (p.Cys429TyrfsTer2)
c.1283_1296del (p.Cys428TyrfsTer2)
c.713_726del (p.Cys238TyrfsTer2)
n.1772-2678_1772-2665del
c.1238_1251del (p.Cys413TyrfsTer2)
c.746_759del (p.Cys249TyrfsTer2)
 ClinVar gnomAD v4
2g.27364747T>ACA346196900EIF2B4,GTF3C2-AS2c.1343A>T (p.Gln448Leu)
c.*609A>T (n.*609A>T)
c.1340A>T (p.Gln447Leu)
c.1403A>T (p.Gln468Leu)
n.336A>T
c.1406A>T (p.Gln469Leu)
c.1334A>T (p.Gln445Leu)
c.1298A>T (p.Gln433Leu)
c.1295A>T (p.Gln432Leu)
c.725A>T (p.Gln242Leu)
n.1772-2677T>A
c.1250A>T (p.Gln417Leu)
c.758A>T (p.Gln253Leu)
2g.27364747T>CCA346196902EIF2B4,GTF3C2-AS2c.1343A>G (p.Gln448Arg)
c.*609A>G (n.*609A>G)
c.1340A>G (p.Gln447Arg)
c.1403A>G (p.Gln468Arg)
n.336A>G
c.1406A>G (p.Gln469Arg)
c.1334A>G (p.Gln445Arg)
c.1298A>G (p.Gln433Arg)
c.1295A>G (p.Gln432Arg)
c.725A>G (p.Gln242Arg)
n.1772-2677T>C
c.1250A>G (p.Gln417Arg)
c.758A>G (p.Gln253Arg)
2g.27364747T>GCA346196904EIF2B4,GTF3C2-AS2c.1343A>C (p.Gln448Pro)
c.*609A>C (n.*609A>C)
c.1340A>C (p.Gln447Pro)
c.1403A>C (p.Gln468Pro)
n.336A>C
c.1406A>C (p.Gln469Pro)
c.1334A>C (p.Gln445Pro)
c.1298A>C (p.Gln433Pro)
c.1295A>C (p.Gln432Pro)
c.725A>C (p.Gln242Pro)
n.1772-2677T>G
c.1250A>C (p.Gln417Pro)
c.758A>C (p.Gln253Pro)
2g.27364748G>ACA346196906EIF2B4,GTF3C2-AS2c.1342C>T (p.Gln448Ter)
c.*608C>T (n.*608C>T)
c.1339C>T (p.Gln447Ter)
c.1402C>T (p.Gln468Ter)
n.335C>T
c.1405C>T (p.Gln469Ter)
c.1333C>T (p.Gln445Ter)
c.1297C>T (p.Gln433Ter)
c.1294C>T (p.Gln432Ter)
c.724C>T (p.Gln242Ter)
n.1772-2676G>A
c.1249C>T (p.Gln417Ter)
c.757C>T (p.Gln253Ter)
2g.27364748G>CCA346196907EIF2B4,GTF3C2-AS2c.1342C>G (p.Gln448Glu)
c.*608C>G (n.*608C>G)
c.1339C>G (p.Gln447Glu)
c.1402C>G (p.Gln468Glu)
n.335C>G
c.1405C>G (p.Gln469Glu)
c.1333C>G (p.Gln445Glu)
c.1297C>G (p.Gln433Glu)
c.1294C>G (p.Gln432Glu)
c.724C>G (p.Gln242Glu)
n.1772-2676G>C
c.1249C>G (p.Gln417Glu)
c.757C>G (p.Gln253Glu)
2g.27364748G>TCA346196909EIF2B4,GTF3C2-AS2c.1342C>A (p.Gln448Lys)
c.*608C>A (n.*608C>A)
c.1339C>A (p.Gln447Lys)
c.1402C>A (p.Gln468Lys)
n.335C>A
c.1405C>A (p.Gln469Lys)
c.1333C>A (p.Gln445Lys)
c.1297C>A (p.Gln433Lys)
c.1294C>A (p.Gln432Lys)
c.724C>A (p.Gln242Lys)
n.1772-2676G>T
c.1249C>A (p.Gln417Lys)
c.757C>A (p.Gln253Lys)
2g.27364749C>ACA425410064EIF2B4,GTF3C2-AS2c.1341G>T (p.Val447=)
c.*607G>T (n.*607G>T)
c.1338G>T (p.Val446=)
c.1401G>T (p.Val467=)
n.334G>T
c.1404G>T (p.Val468=)
c.1332G>T (p.Val444=)
c.1296G>T (p.Val432=)
c.1293G>T (p.Val431=)
c.723G>T (p.Val241=)
n.1772-2675C>A
c.1248G>T (p.Val416=)
c.756G>T (p.Val252=)
2g.27364749C>GCA425410065EIF2B4,GTF3C2-AS2c.1341G>C (p.Val447=)
c.*607G>C (n.*607G>C)
c.1338G>C (p.Val446=)
c.1401G>C (p.Val467=)
n.334G>C
c.1404G>C (p.Val468=)
c.1332G>C (p.Val444=)
c.1296G>C (p.Val432=)
c.1293G>C (p.Val431=)
c.723G>C (p.Val241=)
n.1772-2675C>G
c.1248G>C (p.Val416=)
c.756G>C (p.Val252=)
2g.27364749C>TCA425410066EIF2B4,GTF3C2-AS2c.1341G>A (p.Val447=)
c.*607G>A (n.*607G>A)
c.1338G>A (p.Val446=)
c.1401G>A (p.Val467=)
n.334G>A
c.1404G>A (p.Val468=)
c.1332G>A (p.Val444=)
c.1296G>A (p.Val432=)
c.1293G>A (p.Val431=)
c.723G>A (p.Val241=)
n.1772-2675C>T
c.1248G>A (p.Val416=)
c.756G>A (p.Val252=)
 gnomAD v4
2g.27364750A>CCA346196914EIF2B4,GTF3C2-AS2c.1340T>G (p.Val447Gly)
c.*606T>G (n.*606T>G)
c.1337T>G (p.Val446Gly)
c.1400T>G (p.Val467Gly)
n.333T>G
c.1403T>G (p.Val468Gly)
c.1331T>G (p.Val444Gly)
c.1295T>G (p.Val432Gly)
c.1292T>G (p.Val431Gly)
c.722T>G (p.Val241Gly)
n.1772-2674A>C
c.1247T>G (p.Val416Gly)
c.755T>G (p.Val252Gly)
2g.27364750A>GCA346196911EIF2B4,GTF3C2-AS2c.1340T>C (p.Val447Ala)
c.*606T>C (n.*606T>C)
c.1337T>C (p.Val446Ala)
c.1400T>C (p.Val467Ala)
n.333T>C
c.1403T>C (p.Val468Ala)
c.1331T>C (p.Val444Ala)
c.1295T>C (p.Val432Ala)
c.1292T>C (p.Val431Ala)
c.722T>C (p.Val241Ala)
n.1772-2674A>G
c.1247T>C (p.Val416Ala)
c.755T>C (p.Val252Ala)
 gnomAD v4
2g.27364750A>TCA346196913EIF2B4,GTF3C2-AS2c.1340T>A (p.Val447Glu)
c.*606T>A (n.*606T>A)
c.1337T>A (p.Val446Glu)
c.1400T>A (p.Val467Glu)
n.333T>A
c.1403T>A (p.Val468Glu)
c.1331T>A (p.Val444Glu)
c.1295T>A (p.Val432Glu)
c.1292T>A (p.Val431Glu)
c.722T>A (p.Val241Glu)
n.1772-2674A>T
c.1247T>A (p.Val416Glu)
c.755T>A (p.Val252Glu)
2g.27364751C>ACA346196916EIF2B4,GTF3C2-AS2c.1339G>T (p.Val447Leu)
c.*605G>T (n.*605G>T)
c.1336G>T (p.Val446Leu)
c.1399G>T (p.Val467Leu)
n.332G>T
c.1402G>T (p.Val468Leu)
c.1330G>T (p.Val444Leu)
c.1294G>T (p.Val432Leu)
c.1291G>T (p.Val431Leu)
c.721G>T (p.Val241Leu)
n.1772-2673C>A
c.1246G>T (p.Val416Leu)
c.754G>T (p.Val252Leu)
2g.27364751C=CA1240242911EIF2B4,GTF3C2-AS2c.1339G= (p.Val447=)
c.*605G= (n.*605G=)
c.1336G= (p.Val446=)
c.1399G= (p.Val467=)
n.332G=
c.1402G= (p.Val468=)
c.1330G= (p.Val444=)
c.1294G= (p.Val432=)
c.1291G= (p.Val431=)
c.721G= (p.Val241=)
n.1772-2673C=
c.1246G= (p.Val416=)
c.754G= (p.Val252=)
2g.27364751C>GCA346196917EIF2B4,GTF3C2-AS2c.1339G>C (p.Val447Leu)
c.*605G>C (n.*605G>C)
c.1336G>C (p.Val446Leu)
c.1399G>C (p.Val467Leu)
n.332G>C
c.1402G>C (p.Val468Leu)
c.1330G>C (p.Val444Leu)
c.1294G>C (p.Val432Leu)
c.1291G>C (p.Val431Leu)
c.721G>C (p.Val241Leu)
n.1772-2673C>G
c.1246G>C (p.Val416Leu)
c.754G>C (p.Val252Leu)
2g.27364751C>TCA1576600EIF2B4,GTF3C2-AS2c.1339G>A (p.Val447Met)
c.*605G>A (n.*605G>A)
c.1336G>A (p.Val446Met)
c.1399G>A (p.Val467Met)
n.332G>A
c.1402G>A (p.Val468Met)
c.1330G>A (p.Val444Met)
c.1294G>A (p.Val432Met)
c.1291G>A (p.Val431Met)
c.721G>A (p.Val241Met)
n.1772-2673C>T
c.1246G>A (p.Val416Met)
c.754G>A (p.Val252Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364752A=CA1240242912EIF2B4,GTF3C2-AS2c.1338T= (p.Arg446=)
c.*604T= (n.*604T=)
c.1335T= (p.Arg445=)
c.1398T= (p.Arg466=)
n.331T=
c.1401T= (p.Arg467=)
c.1329T= (p.Arg443=)
c.1293T= (p.Arg431=)
c.1290T= (p.Arg430=)
c.720T= (p.Arg240=)
n.1772-2672A=
c.1245T= (p.Arg415=)
c.753T= (p.Arg251=)
2g.27364752A>CCA425410069EIF2B4,GTF3C2-AS2c.1338T>G (p.Arg446=)
c.*604T>G (n.*604T>G)
c.1335T>G (p.Arg445=)
c.1398T>G (p.Arg466=)
n.331T>G
c.1401T>G (p.Arg467=)
c.1329T>G (p.Arg443=)
c.1293T>G (p.Arg431=)
c.1290T>G (p.Arg430=)
c.720T>G (p.Arg240=)
n.1772-2672A>C
c.1245T>G (p.Arg415=)
c.753T>G (p.Arg251=)
2g.27364752A>GCA1576601EIF2B4,GTF3C2-AS2c.1338T>C (p.Arg446=)
c.*604T>C (n.*604T>C)
c.1335T>C (p.Arg445=)
c.1398T>C (p.Arg466=)
n.331T>C
c.1401T>C (p.Arg467=)
c.1329T>C (p.Arg443=)
c.1293T>C (p.Arg431=)
c.1290T>C (p.Arg430=)
c.720T>C (p.Arg240=)
n.1772-2672A>G
c.1245T>C (p.Arg415=)
c.753T>C (p.Arg251=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364752A>TCA425410070EIF2B4,GTF3C2-AS2c.1338T>A (p.Arg446=)
c.*604T>A (n.*604T>A)
c.1335T>A (p.Arg445=)
c.1398T>A (p.Arg466=)
n.331T>A
c.1401T>A (p.Arg467=)
c.1329T>A (p.Arg443=)
c.1293T>A (p.Arg431=)
c.1290T>A (p.Arg430=)
c.720T>A (p.Arg240=)
n.1772-2672A>T
c.1245T>A (p.Arg415=)
c.753T>A (p.Arg251=)
2g.27364753C>ACA44509584EIF2B4,GTF3C2-AS2c.1337G>T (p.Arg446Leu)
c.*603G>T (n.*603G>T)
c.1334G>T (p.Arg445Leu)
c.1397G>T (p.Arg466Leu)
n.330G>T
c.1400G>T (p.Arg467Leu)
c.1328G>T (p.Arg443Leu)
c.1292G>T (p.Arg431Leu)
c.1289G>T (p.Arg430Leu)
c.719G>T (p.Arg240Leu)
n.1772-2671C>A
c.1244G>T (p.Arg415Leu)
c.752G>T (p.Arg251Leu)
 dbSNP gnomAD v4
2g.27364753C=CA1240242913EIF2B4,GTF3C2-AS2c.1337G= (p.Arg446=)
c.*603G= (n.*603G=)
c.1334G= (p.Arg445=)
c.1397G= (p.Arg466=)
n.330G=
c.1400G= (p.Arg467=)
c.1328G= (p.Arg443=)
c.1292G= (p.Arg431=)
c.1289G= (p.Arg430=)
c.719G= (p.Arg240=)
n.1772-2671C=
c.1244G= (p.Arg415=)
c.752G= (p.Arg251=)
2g.27364753C>GCA346196920EIF2B4,GTF3C2-AS2c.1337G>C (p.Arg446Pro)
c.*603G>C (n.*603G>C)
c.1334G>C (p.Arg445Pro)
c.1397G>C (p.Arg466Pro)
n.330G>C
c.1400G>C (p.Arg467Pro)
c.1328G>C (p.Arg443Pro)
c.1292G>C (p.Arg431Pro)
c.1289G>C (p.Arg430Pro)
c.719G>C (p.Arg240Pro)
n.1772-2671C>G
c.1244G>C (p.Arg415Pro)
c.752G>C (p.Arg251Pro)
2g.27364753C>TCA346196922EIF2B4,GTF3C2-AS2c.1337G>A (p.Arg446His)
c.*603G>A (n.*603G>A)
c.1334G>A (p.Arg445His)
c.1397G>A (p.Arg466His)
n.330G>A
c.1400G>A (p.Arg467His)
c.1328G>A (p.Arg443His)
c.1292G>A (p.Arg431His)
c.1289G>A (p.Arg430His)
c.719G>A (p.Arg240His)
n.1772-2671C>T
c.1244G>A (p.Arg415His)
c.752G>A (p.Arg251His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.27364754G>ACA1576602EIF2B4,GTF3C2-AS2c.1336C>T (p.Arg446Cys)
c.*602C>T (n.*602C>T)
c.1333C>T (p.Arg445Cys)
c.1396C>T (p.Arg466Cys)
n.329C>T
c.1399C>T (p.Arg467Cys)
c.1327C>T (p.Arg443Cys)
c.1291C>T (p.Arg431Cys)
c.1288C>T (p.Arg430Cys)
c.718C>T (p.Arg240Cys)
n.1772-2670G>A
c.1243C>T (p.Arg415Cys)
c.751C>T (p.Arg251Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364754G>CCA346196923EIF2B4,GTF3C2-AS2c.1336C>G (p.Arg446Gly)
c.*602C>G (n.*602C>G)
c.1333C>G (p.Arg445Gly)
c.1396C>G (p.Arg466Gly)
n.329C>G
c.1399C>G (p.Arg467Gly)
c.1327C>G (p.Arg443Gly)
c.1291C>G (p.Arg431Gly)
c.1288C>G (p.Arg430Gly)
c.718C>G (p.Arg240Gly)
n.1772-2670G>C
c.1243C>G (p.Arg415Gly)
c.751C>G (p.Arg251Gly)
2g.27364754G=CA1240242914EIF2B4,GTF3C2-AS2c.1336C= (p.Arg446=)
c.*602C= (n.*602C=)
c.1333C= (p.Arg445=)
c.1396C= (p.Arg466=)
n.329C=
c.1399C= (p.Arg467=)
c.1327C= (p.Arg443=)
c.1291C= (p.Arg431=)
c.1288C= (p.Arg430=)
c.718C= (p.Arg240=)
n.1772-2670G=
c.1243C= (p.Arg415=)
c.751C= (p.Arg251=)
2g.27364754G>TCA346196925EIF2B4,GTF3C2-AS2c.1336C>A (p.Arg446Ser)
c.*602C>A (n.*602C>A)
c.1333C>A (p.Arg445Ser)
c.1396C>A (p.Arg466Ser)
n.329C>A
c.1399C>A (p.Arg467Ser)
c.1327C>A (p.Arg443Ser)
c.1291C>A (p.Arg431Ser)
c.1288C>A (p.Arg430Ser)
c.718C>A (p.Arg240Ser)
n.1772-2670G>T
c.1243C>A (p.Arg415Ser)
c.751C>A (p.Arg251Ser)
2g.27364755C>ACA346196927EIF2B4,GTF3C2-AS2c.1335G>T (p.Glu445Asp)
c.*601G>T (n.*601G>T)
c.1332G>T (p.Glu444Asp)
c.1395G>T (p.Glu465Asp)
n.328G>T
c.1398G>T (p.Glu466Asp)
c.1326G>T (p.Glu442Asp)
c.1290G>T (p.Glu430Asp)
c.1287G>T (p.Glu429Asp)
c.717G>T (p.Glu239Asp)
n.1772-2669C>A
c.1242G>T (p.Glu414Asp)
c.750G>T (p.Glu250Asp)
2g.27364755C=CA1240242915EIF2B4,GTF3C2-AS2c.1335G= (p.Glu445=)
c.*601G= (n.*601G=)
c.1332G= (p.Glu444=)
c.1395G= (p.Glu465=)
n.328G=
c.1398G= (p.Glu466=)
c.1326G= (p.Glu442=)
c.1290G= (p.Glu430=)
c.1287G= (p.Glu429=)
c.717G= (p.Glu239=)
n.1772-2669C=
c.1242G= (p.Glu414=)
c.750G= (p.Glu250=)
2g.27364755C>GCA346196929EIF2B4,GTF3C2-AS2c.1335G>C (p.Glu445Asp)
c.*601G>C (n.*601G>C)
c.1332G>C (p.Glu444Asp)
c.1395G>C (p.Glu465Asp)
n.328G>C
c.1398G>C (p.Glu466Asp)
c.1326G>C (p.Glu442Asp)
c.1290G>C (p.Glu430Asp)
c.1287G>C (p.Glu429Asp)
c.717G>C (p.Glu239Asp)
n.1772-2669C>G
c.1242G>C (p.Glu414Asp)
c.750G>C (p.Glu250Asp)
 gnomAD v4
2g.27364755C>TCA1576603EIF2B4,GTF3C2-AS2c.1335G>A (p.Glu445=)
c.*601G>A (n.*601G>A)
c.1332G>A (p.Glu444=)
c.1395G>A (p.Glu465=)
n.328G>A
c.1398G>A (p.Glu466=)
c.1326G>A (p.Glu442=)
c.1290G>A (p.Glu430=)
c.1287G>A (p.Glu429=)
c.717G>A (p.Glu239=)
n.1772-2669C>T
c.1242G>A (p.Glu414=)
c.750G>A (p.Glu250=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364756T>ACA346196933EIF2B4,GTF3C2-AS2c.1334A>T (p.Glu445Val)
c.*600A>T (n.*600A>T)
c.1331A>T (p.Glu444Val)
c.1394A>T (p.Glu465Val)
n.327A>T
c.1397A>T (p.Glu466Val)
c.1325A>T (p.Glu442Val)
c.1289A>T (p.Glu430Val)
c.1286A>T (p.Glu429Val)
c.716A>T (p.Glu239Val)
n.1772-2668T>A
c.1241A>T (p.Glu414Val)
c.749A>T (p.Glu250Val)
2g.27364756T>CCA346196934EIF2B4,GTF3C2-AS2c.1334A>G (p.Glu445Gly)
c.*600A>G (n.*600A>G)
c.1331A>G (p.Glu444Gly)
c.1394A>G (p.Glu465Gly)
n.327A>G
c.1397A>G (p.Glu466Gly)
c.1325A>G (p.Glu442Gly)
c.1289A>G (p.Glu430Gly)
c.1286A>G (p.Glu429Gly)
c.716A>G (p.Glu239Gly)
n.1772-2668T>C
c.1241A>G (p.Glu414Gly)
c.749A>G (p.Glu250Gly)
2g.27364756T>GCA346196931EIF2B4,GTF3C2-AS2c.1334A>C (p.Glu445Ala)
c.*600A>C (n.*600A>C)
c.1331A>C (p.Glu444Ala)
c.1394A>C (p.Glu465Ala)
n.327A>C
c.1397A>C (p.Glu466Ala)
c.1325A>C (p.Glu442Ala)
c.1289A>C (p.Glu430Ala)
c.1286A>C (p.Glu429Ala)
c.716A>C (p.Glu239Ala)
n.1772-2668T>G
c.1241A>C (p.Glu414Ala)
c.749A>C (p.Glu250Ala)
2g.27364757C>ACA346196936EIF2B4,GTF3C2-AS2c.1333G>T (p.Glu445Ter)
c.*599G>T (n.*599G>T)
c.1330G>T (p.Glu444Ter)
c.1393G>T (p.Glu465Ter)
n.326G>T
c.1396G>T (p.Glu466Ter)
c.1324G>T (p.Glu442Ter)
c.1288G>T (p.Glu430Ter)
c.1285G>T (p.Glu429Ter)
c.715G>T (p.Glu239Ter)
n.1772-2667C>A
c.1240G>T (p.Glu414Ter)
c.748G>T (p.Glu250Ter)
2g.27364757C>GCA346196939EIF2B4,GTF3C2-AS2c.1333G>C (p.Glu445Gln)
c.*599G>C (n.*599G>C)
c.1330G>C (p.Glu444Gln)
c.1393G>C (p.Glu465Gln)
n.326G>C
c.1396G>C (p.Glu466Gln)
c.1324G>C (p.Glu442Gln)
c.1288G>C (p.Glu430Gln)
c.1285G>C (p.Glu429Gln)
c.715G>C (p.Glu239Gln)
n.1772-2667C>G
c.1240G>C (p.Glu414Gln)
c.748G>C (p.Glu250Gln)
2g.27364757C>TCA346196938EIF2B4,GTF3C2-AS2c.1333G>A (p.Glu445Lys)
c.*599G>A (n.*599G>A)
c.1330G>A (p.Glu444Lys)
c.1393G>A (p.Glu465Lys)
n.326G>A
c.1396G>A (p.Glu466Lys)
c.1324G>A (p.Glu442Lys)
c.1288G>A (p.Glu430Lys)
c.1285G>A (p.Glu429Lys)
c.715G>A (p.Glu239Lys)
n.1772-2667C>T
c.1240G>A (p.Glu414Lys)
c.748G>A (p.Glu250Lys)
2g.27364758A>CCA346196941EIF2B4,GTF3C2-AS2c.1332T>G (p.Cys444Trp)
c.*598T>G (n.*598T>G)
c.1329T>G (p.Cys443Trp)
c.1392T>G (p.Cys464Trp)
n.325T>G
c.1395T>G (p.Cys465Trp)
c.1323T>G (p.Cys441Trp)
c.1287T>G (p.Cys429Trp)
c.1284T>G (p.Cys428Trp)
c.714T>G (p.Cys238Trp)
n.1772-2666A>C
c.1239T>G (p.Cys413Trp)
c.747T>G (p.Cys249Trp)
2g.27364758A>GCA425410085EIF2B4,GTF3C2-AS2c.1332T>C (p.Cys444=)
c.*598T>C (n.*598T>C)
c.1329T>C (p.Cys443=)
c.1392T>C (p.Cys464=)
n.325T>C
c.1395T>C (p.Cys465=)
c.1323T>C (p.Cys441=)
c.1287T>C (p.Cys429=)
c.1284T>C (p.Cys428=)
c.714T>C (p.Cys238=)
n.1772-2666A>G
c.1239T>C (p.Cys413=)
c.747T>C (p.Cys249=)
2g.27364758A>TCA346196942EIF2B4,GTF3C2-AS2c.1332T>A (p.Cys444Ter)
c.*598T>A (n.*598T>A)
c.1329T>A (p.Cys443Ter)
c.1392T>A (p.Cys464Ter)
n.325T>A
c.1395T>A (p.Cys465Ter)
c.1323T>A (p.Cys441Ter)
c.1287T>A (p.Cys429Ter)
c.1284T>A (p.Cys428Ter)
c.714T>A (p.Cys238Ter)
n.1772-2666A>T
c.1239T>A (p.Cys413Ter)
c.747T>A (p.Cys249Ter)
2g.27364759C>ACA346196944EIF2B4,GTF3C2-AS2c.1331G>T (p.Cys444Phe)
c.*597G>T (n.*597G>T)
c.1328G>T (p.Cys443Phe)
c.1391G>T (p.Cys464Phe)
n.324G>T
c.1394G>T (p.Cys465Phe)
c.1322G>T (p.Cys441Phe)
c.1286G>T (p.Cys429Phe)
c.1283G>T (p.Cys428Phe)
c.713G>T (p.Cys238Phe)
n.1772-2665C>A
c.1238G>T (p.Cys413Phe)
c.746G>T (p.Cys249Phe)
2g.27364759C>GCA346196945EIF2B4,GTF3C2-AS2c.1331G>C (p.Cys444Ser)
c.*597G>C (n.*597G>C)
c.1328G>C (p.Cys443Ser)
c.1391G>C (p.Cys464Ser)
n.324G>C
c.1394G>C (p.Cys465Ser)
c.1322G>C (p.Cys441Ser)
c.1286G>C (p.Cys429Ser)
c.1283G>C (p.Cys428Ser)
c.713G>C (p.Cys238Ser)
n.1772-2665C>G
c.1238G>C (p.Cys413Ser)
c.746G>C (p.Cys249Ser)
2g.27364759C>TCA346196947EIF2B4,GTF3C2-AS2c.1331G>A (p.Cys444Tyr)
c.*597G>A (n.*597G>A)
c.1328G>A (p.Cys443Tyr)
c.1391G>A (p.Cys464Tyr)
n.324G>A
c.1394G>A (p.Cys465Tyr)
c.1322G>A (p.Cys441Tyr)
c.1286G>A (p.Cys429Tyr)
c.1283G>A (p.Cys428Tyr)
c.713G>A (p.Cys238Tyr)
n.1772-2665C>T
c.1238G>A (p.Cys413Tyr)
c.746G>A (p.Cys249Tyr)
2g.27364760A=CA1240242916EIF2B4,GTF3C2-AS2c.1330T= (p.Cys444=)
c.*596T= (n.*596T=)
c.1327T= (p.Cys443=)
c.1390T= (p.Cys464=)
n.323T=
c.1393T= (p.Cys465=)
c.1321T= (p.Cys441=)
c.1285T= (p.Cys429=)
c.1282T= (p.Cys428=)
c.712T= (p.Cys238=)
n.1772-2664A=
c.1237T= (p.Cys413=)
c.745T= (p.Cys249=)
2g.27364760A>CCA346196949EIF2B4,GTF3C2-AS2c.1330T>G (p.Cys444Gly)
c.*596T>G (n.*596T>G)
c.1327T>G (p.Cys443Gly)
c.1390T>G (p.Cys464Gly)
n.323T>G
c.1393T>G (p.Cys465Gly)
c.1321T>G (p.Cys441Gly)
c.1285T>G (p.Cys429Gly)
c.1282T>G (p.Cys428Gly)
c.712T>G (p.Cys238Gly)
n.1772-2664A>C
c.1237T>G (p.Cys413Gly)
c.745T>G (p.Cys249Gly)
2g.27364760A>GCA346196950EIF2B4,GTF3C2-AS2c.1330T>C (p.Cys444Arg)
c.*596T>C (n.*596T>C)
c.1327T>C (p.Cys443Arg)
c.1390T>C (p.Cys464Arg)
n.323T>C
c.1393T>C (p.Cys465Arg)
c.1321T>C (p.Cys441Arg)
c.1285T>C (p.Cys429Arg)
c.1282T>C (p.Cys428Arg)
c.712T>C (p.Cys238Arg)
n.1772-2664A>G
c.1237T>C (p.Cys413Arg)
c.745T>C (p.Cys249Arg)
 dbSNP gnomAD v4
2g.27364760A>TCA346196951EIF2B4,GTF3C2-AS2c.1330T>A (p.Cys444Ser)
c.*596T>A (n.*596T>A)
c.1327T>A (p.Cys443Ser)
c.1390T>A (p.Cys464Ser)
n.323T>A
c.1393T>A (p.Cys465Ser)
c.1321T>A (p.Cys441Ser)
c.1285T>A (p.Cys429Ser)
c.1282T>A (p.Cys428Ser)
c.712T>A (p.Cys238Ser)
n.1772-2664A>T
c.1237T>A (p.Cys413Ser)
c.745T>A (p.Cys249Ser)
2g.27364761G>ACA425410092EIF2B4,GTF3C2-AS2c.1329C>T (p.Phe443=)
c.*595C>T (n.*595C>T)
c.1326C>T (p.Phe442=)
c.1389C>T (p.Phe463=)
n.322C>T
c.1392C>T (p.Phe464=)
c.1320C>T (p.Phe440=)
c.1284C>T (p.Phe428=)
c.1281C>T (p.Phe427=)
c.711C>T (p.Phe237=)
n.1772-2663G>A
c.1236C>T (p.Phe412=)
c.744C>T (p.Phe248=)
 dbSNP
2g.27364761G>CCA346196953EIF2B4,GTF3C2-AS2c.1329C>G (p.Phe443Leu)
c.*595C>G (n.*595C>G)
c.1326C>G (p.Phe442Leu)
c.1389C>G (p.Phe463Leu)
n.322C>G
c.1392C>G (p.Phe464Leu)
c.1320C>G (p.Phe440Leu)
c.1284C>G (p.Phe428Leu)
c.1281C>G (p.Phe427Leu)
c.711C>G (p.Phe237Leu)
n.1772-2663G>C
c.1236C>G (p.Phe412Leu)
c.744C>G (p.Phe248Leu)
 gnomAD v4
2g.27364761G=CA1240242917EIF2B4,GTF3C2-AS2c.1329C= (p.Phe443=)
c.*595C= (n.*595C=)
c.1326C= (p.Phe442=)
c.1389C= (p.Phe463=)
n.322C=
c.1392C= (p.Phe464=)
c.1320C= (p.Phe440=)
c.1284C= (p.Phe428=)
c.1281C= (p.Phe427=)
c.711C= (p.Phe237=)
n.1772-2663G=
c.1236C= (p.Phe412=)
c.744C= (p.Phe248=)
2g.27364761G>TCA346196955EIF2B4,GTF3C2-AS2c.1329C>A (p.Phe443Leu)
c.*595C>A (n.*595C>A)
c.1326C>A (p.Phe442Leu)
c.1389C>A (p.Phe463Leu)
n.322C>A
c.1392C>A (p.Phe464Leu)
c.1320C>A (p.Phe440Leu)
c.1284C>A (p.Phe428Leu)
c.1281C>A (p.Phe427Leu)
c.711C>A (p.Phe237Leu)
n.1772-2663G>T
c.1236C>A (p.Phe412Leu)
c.744C>A (p.Phe248Leu)
 dbSNP COSMIC COSMIC
2g.27364762A>CCA346196957EIF2B4,GTF3C2-AS2c.1328T>G (p.Phe443Cys)
c.*594T>G (n.*594T>G)
c.1325T>G (p.Phe442Cys)
c.1388T>G (p.Phe463Cys)
n.321T>G
c.1391T>G (p.Phe464Cys)
c.1319T>G (p.Phe440Cys)
c.1283T>G (p.Phe428Cys)
c.1280T>G (p.Phe427Cys)
c.710T>G (p.Phe237Cys)
n.1772-2662A>C
c.1235T>G (p.Phe412Cys)
c.743T>G (p.Phe248Cys)
2g.27364762A>GCA346196958EIF2B4,GTF3C2-AS2c.1328T>C (p.Phe443Ser)
c.*594T>C (n.*594T>C)
c.1325T>C (p.Phe442Ser)
c.1388T>C (p.Phe463Ser)
n.321T>C
c.1391T>C (p.Phe464Ser)
c.1319T>C (p.Phe440Ser)
c.1283T>C (p.Phe428Ser)
c.1280T>C (p.Phe427Ser)
c.710T>C (p.Phe237Ser)
n.1772-2662A>G
c.1235T>C (p.Phe412Ser)
c.743T>C (p.Phe248Ser)
2g.27364762A>TCA346196959EIF2B4,GTF3C2-AS2c.1328T>A (p.Phe443Tyr)
c.*594T>A (n.*594T>A)
c.1325T>A (p.Phe442Tyr)
c.1388T>A (p.Phe463Tyr)
n.321T>A
c.1391T>A (p.Phe464Tyr)
c.1319T>A (p.Phe440Tyr)
c.1283T>A (p.Phe428Tyr)
c.1280T>A (p.Phe427Tyr)
c.710T>A (p.Phe237Tyr)
n.1772-2662A>T
c.1235T>A (p.Phe412Tyr)
c.743T>A (p.Phe248Tyr)
2g.27364763A>CCA346196961EIF2B4,GTF3C2-AS2c.1327T>G (p.Phe443Val)
c.*593T>G (n.*593T>G)
c.1324T>G (p.Phe442Val)
c.1387T>G (p.Phe463Val)
n.320T>G
c.1390T>G (p.Phe464Val)
c.1318T>G (p.Phe440Val)
c.1282T>G (p.Phe428Val)
c.1279T>G (p.Phe427Val)
c.709T>G (p.Phe237Val)
n.1772-2661A>C
c.1234T>G (p.Phe412Val)
c.742T>G (p.Phe248Val)
2g.27364763A>GCA346196965EIF2B4,GTF3C2-AS2c.1327T>C (p.Phe443Leu)
c.*593T>C (n.*593T>C)
c.1324T>C (p.Phe442Leu)
c.1387T>C (p.Phe463Leu)
n.320T>C
c.1390T>C (p.Phe464Leu)
c.1318T>C (p.Phe440Leu)
c.1282T>C (p.Phe428Leu)
c.1279T>C (p.Phe427Leu)
c.709T>C (p.Phe237Leu)
n.1772-2661A>G
c.1234T>C (p.Phe412Leu)
c.742T>C (p.Phe248Leu)
2g.27364763A>TCA346196963EIF2B4,GTF3C2-AS2c.1327T>A (p.Phe443Ile)
c.*593T>A (n.*593T>A)
c.1324T>A (p.Phe442Ile)
c.1387T>A (p.Phe463Ile)
n.320T>A
c.1390T>A (p.Phe464Ile)
c.1318T>A (p.Phe440Ile)
c.1282T>A (p.Phe428Ile)
c.1279T>A (p.Phe427Ile)
c.709T>A (p.Phe237Ile)
n.1772-2661A>T
c.1234T>A (p.Phe412Ile)
c.742T>A (p.Phe248Ile)
2g.27364764C>ACA346196966EIF2B4,GTF3C2-AS2c.1326G>T (p.Lys442Asn)
c.*592G>T (n.*592G>T)
c.1323G>T (p.Lys441Asn)
c.1386G>T (p.Lys462Asn)
n.319G>T
c.1389G>T (p.Lys463Asn)
c.1317G>T (p.Lys439Asn)
c.1281G>T (p.Lys427Asn)
c.1278G>T (p.Lys426Asn)
c.708G>T (p.Lys236Asn)
n.1772-2660C>A
c.1233G>T (p.Lys411Asn)
c.741G>T (p.Lys247Asn)
2g.27364764C>GCA346196967EIF2B4,GTF3C2-AS2c.1326G>C (p.Lys442Asn)
c.*592G>C (n.*592G>C)
c.1323G>C (p.Lys441Asn)
c.1386G>C (p.Lys462Asn)
n.319G>C
c.1389G>C (p.Lys463Asn)
c.1317G>C (p.Lys439Asn)
c.1281G>C (p.Lys427Asn)
c.1278G>C (p.Lys426Asn)
c.708G>C (p.Lys236Asn)
n.1772-2660C>G
c.1233G>C (p.Lys411Asn)
c.741G>C (p.Lys247Asn)
2g.27364764C>TCA425410102EIF2B4,GTF3C2-AS2c.1326G>A (p.Lys442=)
c.*592G>A (n.*592G>A)
c.1323G>A (p.Lys441=)
c.1386G>A (p.Lys462=)
n.319G>A
c.1389G>A (p.Lys463=)
c.1317G>A (p.Lys439=)
c.1281G>A (p.Lys427=)
c.1278G>A (p.Lys426=)
c.708G>A (p.Lys236=)
n.1772-2660C>T
c.1233G>A (p.Lys411=)
c.741G>A (p.Lys247=)
2g.27364765T>ACA346196969EIF2B4,GTF3C2-AS2c.1325A>T (p.Lys442Met)
c.*591A>T (n.*591A>T)
c.1322A>T (p.Lys441Met)
c.1385A>T (p.Lys462Met)
n.318A>T
c.1388A>T (p.Lys463Met)
c.1316A>T (p.Lys439Met)
c.1280A>T (p.Lys427Met)
c.1277A>T (p.Lys426Met)
c.707A>T (p.Lys236Met)
n.1772-2659T>A
c.1232A>T (p.Lys411Met)
c.740A>T (p.Lys247Met)
2g.27364765T>CCA346196971EIF2B4,GTF3C2-AS2c.1325A>G (p.Lys442Arg)
c.*591A>G (n.*591A>G)
c.1322A>G (p.Lys441Arg)
c.1385A>G (p.Lys462Arg)
n.318A>G
c.1388A>G (p.Lys463Arg)
c.1316A>G (p.Lys439Arg)
c.1280A>G (p.Lys427Arg)
c.1277A>G (p.Lys426Arg)
c.707A>G (p.Lys236Arg)
n.1772-2659T>C
c.1232A>G (p.Lys411Arg)
c.740A>G (p.Lys247Arg)
2g.27364765T>GCA346196972EIF2B4,GTF3C2-AS2c.1325A>C (p.Lys442Thr)
c.*591A>C (n.*591A>C)
c.1322A>C (p.Lys441Thr)
c.1385A>C (p.Lys462Thr)
n.318A>C
c.1388A>C (p.Lys463Thr)
c.1316A>C (p.Lys439Thr)
c.1280A>C (p.Lys427Thr)
c.1277A>C (p.Lys426Thr)
c.707A>C (p.Lys236Thr)
n.1772-2659T>G
c.1232A>C (p.Lys411Thr)
c.740A>C (p.Lys247Thr)
2g.27364766T>ACA346196973EIF2B4,GTF3C2-AS2c.1324A>T (p.Lys442Ter)
c.*590A>T (n.*590A>T)
c.1321A>T (p.Lys441Ter)
c.1384A>T (p.Lys462Ter)
n.317A>T
c.1387A>T (p.Lys463Ter)
c.1315A>T (p.Lys439Ter)
c.1279A>T (p.Lys427Ter)
c.1276A>T (p.Lys426Ter)
c.706A>T (p.Lys236Ter)
n.1772-2658T>A
c.1231A>T (p.Lys411Ter)
c.739A>T (p.Lys247Ter)
2g.27364766T>CCA346196974EIF2B4,GTF3C2-AS2c.1324A>G (p.Lys442Glu)
c.*590A>G (n.*590A>G)
c.1321A>G (p.Lys441Glu)
c.1384A>G (p.Lys462Glu)
n.317A>G
c.1387A>G (p.Lys463Glu)
c.1315A>G (p.Lys439Glu)
c.1279A>G (p.Lys427Glu)
c.1276A>G (p.Lys426Glu)
c.706A>G (p.Lys236Glu)
n.1772-2658T>C
c.1231A>G (p.Lys411Glu)
c.739A>G (p.Lys247Glu)
2g.27364766T>GCA346196975EIF2B4,GTF3C2-AS2c.1324A>C (p.Lys442Gln)
c.*590A>C (n.*590A>C)
c.1321A>C (p.Lys441Gln)
c.1384A>C (p.Lys462Gln)
n.317A>C
c.1387A>C (p.Lys463Gln)
c.1315A>C (p.Lys439Gln)
c.1279A>C (p.Lys427Gln)
c.1276A>C (p.Lys426Gln)
c.706A>C (p.Lys236Gln)
n.1772-2658T>G
c.1231A>C (p.Lys411Gln)
c.739A>C (p.Lys247Gln)
2g.27364769_27364772delCA2658336176EIF2B4,GTF3C2-AS2c.1321_1324del (p.Tyr441SerfsTer16)
c.*587_*590del (n.*587_*590del)
c.1318_1321del (p.Tyr440SerfsTer16)
c.1381_1384del (p.Tyr461SerfsTer16)
n.314_317del
c.1384_1387del (p.Tyr462SerfsTer16)
c.1312_1315del (p.Tyr438SerfsTer16)
c.1276_1279del (p.Tyr426SerfsTer16)
c.1273_1276del (p.Tyr425SerfsTer16)
c.703_706del (p.Tyr235SerfsTer16)
n.1772-2655_1772-2652del
c.1228_1231del (p.Tyr410SerfsTer16)
c.736_739del (p.Tyr246SerfsTer16)
 gnomAD v4
2g.27364767G>ACA425410105EIF2B4,GTF3C2-AS2c.1323C>T (p.Tyr441=)
c.*589C>T (n.*589C>T)
c.1320C>T (p.Tyr440=)
c.1383C>T (p.Tyr461=)
n.316C>T
c.1386C>T (p.Tyr462=)
c.1314C>T (p.Tyr438=)
c.1278C>T (p.Tyr426=)
c.1275C>T (p.Tyr425=)
c.705C>T (p.Tyr235=)
n.1772-2657G>A
c.1230C>T (p.Tyr410=)
c.738C>T (p.Tyr246=)
2g.27364767G>CCA346196977EIF2B4,GTF3C2-AS2c.1323C>G (p.Tyr441Ter)
c.*589C>G (n.*589C>G)
c.1320C>G (p.Tyr440Ter)
c.1383C>G (p.Tyr461Ter)
n.316C>G
c.1386C>G (p.Tyr462Ter)
c.1314C>G (p.Tyr438Ter)
c.1278C>G (p.Tyr426Ter)
c.1275C>G (p.Tyr425Ter)
c.705C>G (p.Tyr235Ter)
n.1772-2657G>C
c.1230C>G (p.Tyr410Ter)
c.738C>G (p.Tyr246Ter)
2g.27364767G=CA1240242918EIF2B4,GTF3C2-AS2c.1323C= (p.Tyr441=)
c.*589C= (n.*589C=)
c.1320C= (p.Tyr440=)
c.1383C= (p.Tyr461=)
n.316C=
c.1386C= (p.Tyr462=)
c.1314C= (p.Tyr438=)
c.1278C= (p.Tyr426=)
c.1275C= (p.Tyr425=)
c.705C= (p.Tyr235=)
n.1772-2657G=
c.1230C= (p.Tyr410=)
c.738C= (p.Tyr246=)
2g.27364767G>TCA346196979EIF2B4,GTF3C2-AS2c.1323C>A (p.Tyr441Ter)
c.*589C>A (n.*589C>A)
c.1320C>A (p.Tyr440Ter)
c.1383C>A (p.Tyr461Ter)
n.316C>A
c.1386C>A (p.Tyr462Ter)
c.1314C>A (p.Tyr438Ter)
c.1278C>A (p.Tyr426Ter)
c.1275C>A (p.Tyr425Ter)
c.705C>A (p.Tyr235Ter)
n.1772-2657G>T
c.1230C>A (p.Tyr410Ter)
c.738C>A (p.Tyr246Ter)
 gnomAD v4
2g.27364768T>ACA346196983EIF2B4,GTF3C2-AS2c.1322A>T (p.Tyr441Phe)
c.*588A>T (n.*588A>T)
c.1319A>T (p.Tyr440Phe)
c.1382A>T (p.Tyr461Phe)
n.315A>T
c.1385A>T (p.Tyr462Phe)
c.1313A>T (p.Tyr438Phe)
c.1277A>T (p.Tyr426Phe)
c.1274A>T (p.Tyr425Phe)
c.704A>T (p.Tyr235Phe)
n.1772-2656T>A
c.1229A>T (p.Tyr410Phe)
c.737A>T (p.Tyr246Phe)
2g.27364768T>CCA346196982EIF2B4,GTF3C2-AS2c.1322A>G (p.Tyr441Cys)
c.*588A>G (n.*588A>G)
c.1319A>G (p.Tyr440Cys)
c.1382A>G (p.Tyr461Cys)
n.315A>G
c.1385A>G (p.Tyr462Cys)
c.1313A>G (p.Tyr438Cys)
c.1277A>G (p.Tyr426Cys)
c.1274A>G (p.Tyr425Cys)
c.704A>G (p.Tyr235Cys)
n.1772-2656T>C
c.1229A>G (p.Tyr410Cys)
c.737A>G (p.Tyr246Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.27364768T>GCA346196980EIF2B4,GTF3C2-AS2c.1322A>C (p.Tyr441Ser)
c.*588A>C (n.*588A>C)
c.1319A>C (p.Tyr440Ser)
c.1382A>C (p.Tyr461Ser)
n.315A>C
c.1385A>C (p.Tyr462Ser)
c.1313A>C (p.Tyr438Ser)
c.1277A>C (p.Tyr426Ser)
c.1274A>C (p.Tyr425Ser)
c.704A>C (p.Tyr235Ser)
n.1772-2656T>G
c.1229A>C (p.Tyr410Ser)
c.737A>C (p.Tyr246Ser)
2g.27364768T=CA1240242919EIF2B4,GTF3C2-AS2c.1322A= (p.Tyr441=)
c.*588A= (n.*588A=)
c.1319A= (p.Tyr440=)
c.1382A= (p.Tyr461=)
n.315A=
c.1385A= (p.Tyr462=)
c.1313A= (p.Tyr438=)
c.1277A= (p.Tyr426=)
c.1274A= (p.Tyr425=)
c.704A= (p.Tyr235=)
n.1772-2656T=
c.1229A= (p.Tyr410=)
c.737A= (p.Tyr246=)
2g.27364768dupCA767375689EIF2B4,GTF3C2-AS2c.1322dup (p.Tyr441Ter)
c.*588dup (n.*588dup)
c.1319dup (p.Tyr440Ter)
c.1382dup (p.Tyr461Ter)
n.315dup
c.1385dup (p.Tyr462Ter)
c.1313dup (p.Tyr438Ter)
c.1277dup (p.Tyr426Ter)
c.1274dup (p.Tyr425Ter)
c.704dup (p.Tyr235Ter)
n.1772-2656dup
c.1229dup (p.Tyr410Ter)
c.737dup (p.Tyr246Ter)
 dbSNP
2g.27364769A=CA1240242920EIF2B4,GTF3C2-AS2c.1321T= (p.Tyr441=)
c.*587T= (n.*587T=)
c.1318T= (p.Tyr440=)
c.1381T= (p.Tyr461=)
n.314T=
c.1384T= (p.Tyr462=)
c.1312T= (p.Tyr438=)
c.1276T= (p.Tyr426=)
c.1273T= (p.Tyr425=)
c.703T= (p.Tyr235=)
n.1772-2655A=
c.1228T= (p.Tyr410=)
c.736T= (p.Tyr246=)
2g.27364769A>CCA346196985EIF2B4,GTF3C2-AS2c.1321T>G (p.Tyr441Asp)
c.*587T>G (n.*587T>G)
c.1318T>G (p.Tyr440Asp)
c.1381T>G (p.Tyr461Asp)
n.314T>G
c.1384T>G (p.Tyr462Asp)
c.1312T>G (p.Tyr438Asp)
c.1276T>G (p.Tyr426Asp)
c.1273T>G (p.Tyr425Asp)
c.703T>G (p.Tyr235Asp)
n.1772-2655A>C
c.1228T>G (p.Tyr410Asp)
c.736T>G (p.Tyr246Asp)
2g.27364769A>GCA1576604EIF2B4,GTF3C2-AS2c.1321T>C (p.Tyr441His)
c.*587T>C (n.*587T>C)
c.1318T>C (p.Tyr440His)
c.1381T>C (p.Tyr461His)
n.314T>C
c.1384T>C (p.Tyr462His)
c.1312T>C (p.Tyr438His)
c.1276T>C (p.Tyr426His)
c.1273T>C (p.Tyr425His)
c.703T>C (p.Tyr235His)
n.1772-2655A>G
c.1228T>C (p.Tyr410His)
c.736T>C (p.Tyr246His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364769A>TCA346196987EIF2B4,GTF3C2-AS2c.1321T>A (p.Tyr441Asn)
c.*587T>A (n.*587T>A)
c.1318T>A (p.Tyr440Asn)
c.1381T>A (p.Tyr461Asn)
n.314T>A
c.1384T>A (p.Tyr462Asn)
c.1312T>A (p.Tyr438Asn)
c.1276T>A (p.Tyr426Asn)
c.1273T>A (p.Tyr425Asn)
c.703T>A (p.Tyr235Asn)
n.1772-2655A>T
c.1228T>A (p.Tyr410Asn)
c.736T>A (p.Tyr246Asn)
 gnomAD v4
2g.27364770T>ACA425410109EIF2B4,GTF3C2-AS2c.1320A>T (p.Thr440=)
c.*586A>T (n.*586A>T)
c.1317A>T (p.Thr439=)
c.1380A>T (p.Thr460=)
n.313A>T
c.1383A>T (p.Thr461=)
c.1311A>T (p.Thr437=)
c.1275A>T (p.Thr425=)
c.1272A>T (p.Thr424=)
c.702A>T (p.Thr234=)
n.1772-2654T>A
c.1227A>T (p.Thr409=)
c.735A>T (p.Thr245=)
2g.27364770T>CCA425410110EIF2B4,GTF3C2-AS2c.1320A>G (p.Thr440=)
c.*586A>G (n.*586A>G)
c.1317A>G (p.Thr439=)
c.1380A>G (p.Thr460=)
n.313A>G
c.1383A>G (p.Thr461=)
c.1311A>G (p.Thr437=)
c.1275A>G (p.Thr425=)
c.1272A>G (p.Thr424=)
c.702A>G (p.Thr234=)
n.1772-2654T>C
c.1227A>G (p.Thr409=)
c.735A>G (p.Thr245=)
2g.27364770T>GCA425410112EIF2B4,GTF3C2-AS2c.1320A>C (p.Thr440=)
c.*586A>C (n.*586A>C)
c.1317A>C (p.Thr439=)
c.1380A>C (p.Thr460=)
n.313A>C
c.1383A>C (p.Thr461=)
c.1311A>C (p.Thr437=)
c.1275A>C (p.Thr425=)
c.1272A>C (p.Thr424=)
c.702A>C (p.Thr234=)
n.1772-2654T>G
c.1227A>C (p.Thr409=)
c.735A>C (p.Thr245=)
2g.27364771G>ACA346196988EIF2B4,GTF3C2-AS2c.1319C>T (p.Thr440Ile)
c.*585C>T (n.*585C>T)
c.1316C>T (p.Thr439Ile)
c.1379C>T (p.Thr460Ile)
n.312C>T
c.1382C>T (p.Thr461Ile)
c.1310C>T (p.Thr437Ile)
c.1274C>T (p.Thr425Ile)
c.1271C>T (p.Thr424Ile)
c.701C>T (p.Thr234Ile)
n.1772-2653G>A
c.1226C>T (p.Thr409Ile)
c.734C>T (p.Thr245Ile)
2g.27364771G>CCA346196990EIF2B4,GTF3C2-AS2c.1319C>G (p.Thr440Arg)
c.*585C>G (n.*585C>G)
c.1316C>G (p.Thr439Arg)
c.1379C>G (p.Thr460Arg)
n.312C>G
c.1382C>G (p.Thr461Arg)
c.1310C>G (p.Thr437Arg)
c.1274C>G (p.Thr425Arg)
c.1271C>G (p.Thr424Arg)
c.701C>G (p.Thr234Arg)
n.1772-2653G>C
c.1226C>G (p.Thr409Arg)
c.734C>G (p.Thr245Arg)
2g.27364771G>TCA346196991EIF2B4,GTF3C2-AS2c.1319C>A (p.Thr440Lys)
c.*585C>A (n.*585C>A)
c.1316C>A (p.Thr439Lys)
c.1379C>A (p.Thr460Lys)
n.312C>A
c.1382C>A (p.Thr461Lys)
c.1310C>A (p.Thr437Lys)
c.1274C>A (p.Thr425Lys)
c.1271C>A (p.Thr424Lys)
c.701C>A (p.Thr234Lys)
n.1772-2653G>T
c.1226C>A (p.Thr409Lys)
c.734C>A (p.Thr245Lys)
2g.27364772T>ACA346196995EIF2B4,GTF3C2-AS2c.1318A>T (p.Thr440Ser)
c.*584A>T (n.*584A>T)
c.1315A>T (p.Thr439Ser)
c.1378A>T (p.Thr460Ser)
n.311A>T
c.1381A>T (p.Thr461Ser)
c.1309A>T (p.Thr437Ser)
c.1273A>T (p.Thr425Ser)
c.1270A>T (p.Thr424Ser)
c.700A>T (p.Thr234Ser)
n.1772-2652T>A
c.1225A>T (p.Thr409Ser)
c.733A>T (p.Thr245Ser)
2g.27364772T>CCA346196993EIF2B4,GTF3C2-AS2c.1318A>G (p.Thr440Ala)
c.*584A>G (n.*584A>G)
c.1315A>G (p.Thr439Ala)
c.1378A>G (p.Thr460Ala)
n.311A>G
c.1381A>G (p.Thr461Ala)
c.1309A>G (p.Thr437Ala)
c.1273A>G (p.Thr425Ala)
c.1270A>G (p.Thr424Ala)
c.700A>G (p.Thr234Ala)
n.1772-2652T>C
c.1225A>G (p.Thr409Ala)
c.733A>G (p.Thr245Ala)
 gnomAD v4
2g.27364772T>GCA346196994EIF2B4,GTF3C2-AS2c.1318A>C (p.Thr440Pro)
c.*584A>C (n.*584A>C)
c.1315A>C (p.Thr439Pro)
c.1378A>C (p.Thr460Pro)
n.311A>C
c.1381A>C (p.Thr461Pro)
c.1309A>C (p.Thr437Pro)
c.1273A>C (p.Thr425Pro)
c.1270A>C (p.Thr424Pro)
c.700A>C (p.Thr234Pro)
n.1772-2652T>G
c.1225A>C (p.Thr409Pro)
c.733A>C (p.Thr245Pro)
2g.27364773T>ACA346196997EIF2B4,GTF3C2-AS2c.1317A>T (p.Glu439Asp)
c.*583A>T (n.*583A>T)
c.1314A>T (p.Glu438Asp)
c.1377A>T (p.Glu459Asp)
n.310A>T
c.1380A>T (p.Glu460Asp)
c.1308A>T (p.Glu436Asp)
c.1272A>T (p.Glu424Asp)
c.1269A>T (p.Glu423Asp)
c.699A>T (p.Glu233Asp)
n.1772-2651T>A
c.1224A>T (p.Glu408Asp)
c.732A>T (p.Glu244Asp)
2g.27364773T>CCA425410121EIF2B4,GTF3C2-AS2c.1317A>G (p.Glu439=)
c.*583A>G (n.*583A>G)
c.1314A>G (p.Glu438=)
c.1377A>G (p.Glu459=)
n.310A>G
c.1380A>G (p.Glu460=)
c.1308A>G (p.Glu436=)
c.1272A>G (p.Glu424=)
c.1269A>G (p.Glu423=)
c.699A>G (p.Glu233=)
n.1772-2651T>C
c.1224A>G (p.Glu408=)
c.732A>G (p.Glu244=)
2g.27364773T>GCA346196999EIF2B4,GTF3C2-AS2c.1317A>C (p.Glu439Asp)
c.*583A>C (n.*583A>C)
c.1314A>C (p.Glu438Asp)
c.1377A>C (p.Glu459Asp)
n.310A>C
c.1380A>C (p.Glu460Asp)
c.1308A>C (p.Glu436Asp)
c.1272A>C (p.Glu424Asp)
c.1269A>C (p.Glu423Asp)
c.699A>C (p.Glu233Asp)
n.1772-2651T>G
c.1224A>C (p.Glu408Asp)
c.732A>C (p.Glu244Asp)
2g.27364774T>ACA346197001EIF2B4,GTF3C2-AS2c.1316A>T (p.Glu439Val)
c.*582A>T (n.*582A>T)
c.1313A>T (p.Glu438Val)
c.1376A>T (p.Glu459Val)
n.309A>T
c.1379A>T (p.Glu460Val)
c.1307A>T (p.Glu436Val)
c.1271A>T (p.Glu424Val)
c.1268A>T (p.Glu423Val)
c.698A>T (p.Glu233Val)
n.1772-2650T>A
c.1223A>T (p.Glu408Val)
c.731A>T (p.Glu244Val)
2g.27364774T>CCA346197002EIF2B4,GTF3C2-AS2c.1316A>G (p.Glu439Gly)
c.*582A>G (n.*582A>G)
c.1313A>G (p.Glu438Gly)
c.1376A>G (p.Glu459Gly)
n.309A>G
c.1379A>G (p.Glu460Gly)
c.1307A>G (p.Glu436Gly)
c.1271A>G (p.Glu424Gly)
c.1268A>G (p.Glu423Gly)
c.698A>G (p.Glu233Gly)
n.1772-2650T>C
c.1223A>G (p.Glu408Gly)
c.731A>G (p.Glu244Gly)
2g.27364774T>GCA346197004EIF2B4,GTF3C2-AS2c.1316A>C (p.Glu439Ala)
c.*582A>C (n.*582A>C)
c.1313A>C (p.Glu438Ala)
c.1376A>C (p.Glu459Ala)
n.309A>C
c.1379A>C (p.Glu460Ala)
c.1307A>C (p.Glu436Ala)
c.1271A>C (p.Glu424Ala)
c.1268A>C (p.Glu423Ala)
c.698A>C (p.Glu233Ala)
n.1772-2650T>G
c.1223A>C (p.Glu408Ala)
c.731A>C (p.Glu244Ala)
2g.27364775C>ACA346197005EIF2B4,GTF3C2-AS2c.1315G>T (p.Glu439Ter)
c.*581G>T (n.*581G>T)
c.1312G>T (p.Glu438Ter)
c.1375G>T (p.Glu459Ter)
n.308G>T
c.1378G>T (p.Glu460Ter)
c.1306G>T (p.Glu436Ter)
c.1270G>T (p.Glu424Ter)
c.1267G>T (p.Glu423Ter)
c.697G>T (p.Glu233Ter)
n.1772-2649C>A
c.1222G>T (p.Glu408Ter)
c.730G>T (p.Glu244Ter)
2g.27364775C>GCA346197008EIF2B4,GTF3C2-AS2c.1315G>C (p.Glu439Gln)
c.*581G>C (n.*581G>C)
c.1312G>C (p.Glu438Gln)
c.1375G>C (p.Glu459Gln)
n.308G>C
c.1378G>C (p.Glu460Gln)
c.1306G>C (p.Glu436Gln)
c.1270G>C (p.Glu424Gln)
c.1267G>C (p.Glu423Gln)
c.697G>C (p.Glu233Gln)
n.1772-2649C>G
c.1222G>C (p.Glu408Gln)
c.730G>C (p.Glu244Gln)
2g.27364775C>TCA346197006EIF2B4,GTF3C2-AS2c.1315G>A (p.Glu439Lys)
c.*581G>A (n.*581G>A)
c.1312G>A (p.Glu438Lys)
c.1375G>A (p.Glu459Lys)
n.308G>A
c.1378G>A (p.Glu460Lys)
c.1306G>A (p.Glu436Lys)
c.1270G>A (p.Glu424Lys)
c.1267G>A (p.Glu423Lys)
c.697G>A (p.Glu233Lys)
n.1772-2649C>T
c.1222G>A (p.Glu408Lys)
c.730G>A (p.Glu244Lys)
2g.27364776A>CCA346197009EIF2B4,GTF3C2-AS2c.1314T>G (p.Cys438Trp)
c.*580T>G (n.*580T>G)
c.1311T>G (p.Cys437Trp)
c.1374T>G (p.Cys458Trp)
n.307T>G
c.1377T>G (p.Cys459Trp)
c.1305T>G (p.Cys435Trp)
c.1269T>G (p.Cys423Trp)
c.1266T>G (p.Cys422Trp)
c.696T>G (p.Cys232Trp)
n.1772-2648A>C
c.1221T>G (p.Cys407Trp)
c.729T>G (p.Cys243Trp)
2g.27364776A>GCA425410134EIF2B4,GTF3C2-AS2c.1314T>C (p.Cys438=)
c.*580T>C (n.*580T>C)
c.1311T>C (p.Cys437=)
c.1374T>C (p.Cys458=)
n.307T>C
c.1377T>C (p.Cys459=)
c.1305T>C (p.Cys435=)
c.1269T>C (p.Cys423=)
c.1266T>C (p.Cys422=)
c.696T>C (p.Cys232=)
n.1772-2648A>G
c.1221T>C (p.Cys407=)
c.729T>C (p.Cys243=)
 gnomAD v4
2g.27364776A>TCA346197010EIF2B4,GTF3C2-AS2c.1314T>A (p.Cys438Ter)
c.*580T>A (n.*580T>A)
c.1311T>A (p.Cys437Ter)
c.1374T>A (p.Cys458Ter)
n.307T>A
c.1377T>A (p.Cys459Ter)
c.1305T>A (p.Cys435Ter)
c.1269T>A (p.Cys423Ter)
c.1266T>A (p.Cys422Ter)
c.696T>A (p.Cys232Ter)
n.1772-2648A>T
c.1221T>A (p.Cys407Ter)
c.729T>A (p.Cys243Ter)
2g.27364777C>ACA346197012EIF2B4,GTF3C2-AS2c.1313G>T (p.Cys438Phe)
c.*579G>T (n.*579G>T)
c.1310G>T (p.Cys437Phe)
c.1373G>T (p.Cys458Phe)
n.306G>T
c.1376G>T (p.Cys459Phe)
c.1304G>T (p.Cys435Phe)
c.1268G>T (p.Cys423Phe)
c.1265G>T (p.Cys422Phe)
c.695G>T (p.Cys232Phe)
n.1772-2647C>A
c.1220G>T (p.Cys407Phe)
c.728G>T (p.Cys243Phe)
2g.27364777C>GCA346197014EIF2B4,GTF3C2-AS2c.1313G>C (p.Cys438Ser)
c.*579G>C (n.*579G>C)
c.1310G>C (p.Cys437Ser)
c.1373G>C (p.Cys458Ser)
n.306G>C
c.1376G>C (p.Cys459Ser)
c.1304G>C (p.Cys435Ser)
c.1268G>C (p.Cys423Ser)
c.1265G>C (p.Cys422Ser)
c.695G>C (p.Cys232Ser)
n.1772-2647C>G
c.1220G>C (p.Cys407Ser)
c.728G>C (p.Cys243Ser)
2g.27364777C>TCA346197015EIF2B4,GTF3C2-AS2c.1313G>A (p.Cys438Tyr)
c.*579G>A (n.*579G>A)
c.1310G>A (p.Cys437Tyr)
c.1373G>A (p.Cys458Tyr)
n.306G>A
c.1376G>A (p.Cys459Tyr)
c.1304G>A (p.Cys435Tyr)
c.1268G>A (p.Cys423Tyr)
c.1265G>A (p.Cys422Tyr)
c.695G>A (p.Cys232Tyr)
n.1772-2647C>T
c.1220G>A (p.Cys407Tyr)
c.728G>A (p.Cys243Tyr)
2g.27364778A>CCA346197017EIF2B4,GTF3C2-AS2c.1312T>G (p.Cys438Gly)
c.*578T>G (n.*578T>G)
c.1309T>G (p.Cys437Gly)
c.1372T>G (p.Cys458Gly)
n.305T>G
c.1375T>G (p.Cys459Gly)
c.1303T>G (p.Cys435Gly)
c.1267T>G (p.Cys423Gly)
c.1264T>G (p.Cys422Gly)
c.694T>G (p.Cys232Gly)
n.1772-2646A>C
c.1219T>G (p.Cys407Gly)
c.727T>G (p.Cys243Gly)
2g.27364778A>GCA346197018EIF2B4,GTF3C2-AS2c.1312T>C (p.Cys438Arg)
c.*578T>C (n.*578T>C)
c.1309T>C (p.Cys437Arg)
c.1372T>C (p.Cys458Arg)
n.305T>C
c.1375T>C (p.Cys459Arg)
c.1303T>C (p.Cys435Arg)
c.1267T>C (p.Cys423Arg)
c.1264T>C (p.Cys422Arg)
c.694T>C (p.Cys232Arg)
n.1772-2646A>G
c.1219T>C (p.Cys407Arg)
c.727T>C (p.Cys243Arg)
2g.27364778A>TCA346197019EIF2B4,GTF3C2-AS2c.1312T>A (p.Cys438Ser)
c.*578T>A (n.*578T>A)
c.1309T>A (p.Cys437Ser)
c.1372T>A (p.Cys458Ser)
n.305T>A
c.1375T>A (p.Cys459Ser)
c.1303T>A (p.Cys435Ser)
c.1267T>A (p.Cys423Ser)
c.1264T>A (p.Cys422Ser)
c.694T>A (p.Cys232Ser)
n.1772-2646A>T
c.1219T>A (p.Cys407Ser)
c.727T>A (p.Cys243Ser)
2g.27364779G>ACA1576605EIF2B4,GTF3C2-AS2c.1311C>T (p.Cys437=)
c.*577C>T (n.*577C>T)
c.1308C>T (p.Cys436=)
c.1371C>T (p.Cys457=)
n.304C>T
c.1374C>T (p.Cys458=)
c.1302C>T (p.Cys434=)
c.1266C>T (p.Cys422=)
c.1263C>T (p.Cys421=)
c.693C>T (p.Cys231=)
n.1772-2645G>A
c.1218C>T (p.Cys406=)
c.726C>T (p.Cys242=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364779G>CCA346197022EIF2B4,GTF3C2-AS2c.1311C>G (p.Cys437Trp)
c.*577C>G (n.*577C>G)
c.1308C>G (p.Cys436Trp)
c.1371C>G (p.Cys457Trp)
n.304C>G
c.1374C>G (p.Cys458Trp)
c.1302C>G (p.Cys434Trp)
c.1266C>G (p.Cys422Trp)
c.1263C>G (p.Cys421Trp)
c.693C>G (p.Cys231Trp)
n.1772-2645G>C
c.1218C>G (p.Cys406Trp)
c.726C>G (p.Cys242Trp)
2g.27364779G=CA1240242921EIF2B4,GTF3C2-AS2c.1311C= (p.Cys437=)
c.*577C= (n.*577C=)
c.1308C= (p.Cys436=)
c.1371C= (p.Cys457=)
n.304C=
c.1374C= (p.Cys458=)
c.1302C= (p.Cys434=)
c.1266C= (p.Cys422=)
c.1263C= (p.Cys421=)
c.693C= (p.Cys231=)
n.1772-2645G=
c.1218C= (p.Cys406=)
c.726C= (p.Cys242=)
2g.27364779G>TCA346197024EIF2B4,GTF3C2-AS2c.1311C>A (p.Cys437Ter)
c.*577C>A (n.*577C>A)
c.1308C>A (p.Cys436Ter)
c.1371C>A (p.Cys457Ter)
n.304C>A
c.1374C>A (p.Cys458Ter)
c.1302C>A (p.Cys434Ter)
c.1266C>A (p.Cys422Ter)
c.1263C>A (p.Cys421Ter)
c.693C>A (p.Cys231Ter)
n.1772-2645G>T
c.1218C>A (p.Cys406Ter)
c.726C>A (p.Cys242Ter)
2g.27364780C>ACA10614899EIF2B4,GTF3C2-AS2c.1310G>T (p.Cys437Phe)
c.*576G>T (n.*576G>T)
c.1307G>T (p.Cys436Phe)
c.1370G>T (p.Cys457Phe)
n.303G>T
c.1373G>T (p.Cys458Phe)
c.1301G>T (p.Cys434Phe)
c.1265G>T (p.Cys422Phe)
c.1262G>T (p.Cys421Phe)
c.692G>T (p.Cys231Phe)
n.1772-2644C>A
c.1217G>T (p.Cys406Phe)
c.725G>T (p.Cys242Phe)
 ClinVar dbSNP gnomAD v4
2g.27364780C=CA1240242922EIF2B4,GTF3C2-AS2c.1310G= (p.Cys437=)
c.*576G= (n.*576G=)
c.1307G= (p.Cys436=)
c.1370G= (p.Cys457=)
n.303G=
c.1373G= (p.Cys458=)
c.1301G= (p.Cys434=)
c.1265G= (p.Cys422=)
c.1262G= (p.Cys421=)
c.692G= (p.Cys231=)
n.1772-2644C=
c.1217G= (p.Cys406=)
c.725G= (p.Cys242=)
2g.27364780C>GCA346197027EIF2B4,GTF3C2-AS2c.1310G>C (p.Cys437Ser)
c.*576G>C (n.*576G>C)
c.1307G>C (p.Cys436Ser)
c.1370G>C (p.Cys457Ser)
n.303G>C
c.1373G>C (p.Cys458Ser)
c.1301G>C (p.Cys434Ser)
c.1265G>C (p.Cys422Ser)
c.1262G>C (p.Cys421Ser)
c.692G>C (p.Cys231Ser)
n.1772-2644C>G
c.1217G>C (p.Cys406Ser)
c.725G>C (p.Cys242Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.27364780C>TCA346197026EIF2B4,GTF3C2-AS2c.1310G>A (p.Cys437Tyr)
c.*576G>A (n.*576G>A)
c.1307G>A (p.Cys436Tyr)
c.1370G>A (p.Cys457Tyr)
n.303G>A
c.1373G>A (p.Cys458Tyr)
c.1301G>A (p.Cys434Tyr)
c.1265G>A (p.Cys422Tyr)
c.1262G>A (p.Cys421Tyr)
c.692G>A (p.Cys231Tyr)
n.1772-2644C>T
c.1217G>A (p.Cys406Tyr)
c.725G>A (p.Cys242Tyr)
2g.27364781A>CCA346197030EIF2B4,GTF3C2-AS2c.1309T>G (p.Cys437Gly)
c.*575T>G (n.*575T>G)
c.1306T>G (p.Cys436Gly)
c.1369T>G (p.Cys457Gly)
n.302T>G
c.1372T>G (p.Cys458Gly)
c.1300T>G (p.Cys434Gly)
c.1264T>G (p.Cys422Gly)
c.1261T>G (p.Cys421Gly)
c.691T>G (p.Cys231Gly)
n.1772-2643A>C
c.1216T>G (p.Cys406Gly)
c.724T>G (p.Cys242Gly)
2g.27364781A>GCA346197028EIF2B4,GTF3C2-AS2c.1309T>C (p.Cys437Arg)
c.*575T>C (n.*575T>C)
c.1306T>C (p.Cys436Arg)
c.1369T>C (p.Cys457Arg)
n.302T>C
c.1372T>C (p.Cys458Arg)
c.1300T>C (p.Cys434Arg)
c.1264T>C (p.Cys422Arg)
c.1261T>C (p.Cys421Arg)
c.691T>C (p.Cys231Arg)
n.1772-2643A>G
c.1216T>C (p.Cys406Arg)
c.724T>C (p.Cys242Arg)
2g.27364781A>TCA346197031EIF2B4,GTF3C2-AS2c.1309T>A (p.Cys437Ser)
c.*575T>A (n.*575T>A)
c.1306T>A (p.Cys436Ser)
c.1369T>A (p.Cys457Ser)
n.302T>A
c.1372T>A (p.Cys458Ser)
c.1300T>A (p.Cys434Ser)
c.1264T>A (p.Cys422Ser)
c.1261T>A (p.Cys421Ser)
c.691T>A (p.Cys231Ser)
n.1772-2643A>T
c.1216T>A (p.Cys406Ser)
c.724T>A (p.Cys242Ser)
2g.27364782A=CA1240242923EIF2B4,GTF3C2-AS2c.1308T= (p.Val436=)
c.*574T= (n.*574T=)
c.1305T= (p.Val435=)
c.1368T= (p.Val456=)
n.301T=
c.1371T= (p.Val457=)
c.1299T= (p.Val433=)
c.1263T= (p.Val421=)
c.1260T= (p.Val420=)
c.690T= (p.Val230=)
n.1772-2642A=
c.1215T= (p.Val405=)
c.723T= (p.Val241=)
2g.27364782A>CCA44509619EIF2B4,GTF3C2-AS2c.1308T>G (p.Val436=)
c.*574T>G (n.*574T>G)
c.1305T>G (p.Val435=)
c.1368T>G (p.Val456=)
n.301T>G
c.1371T>G (p.Val457=)
c.1299T>G (p.Val433=)
c.1263T>G (p.Val421=)
c.1260T>G (p.Val420=)
c.690T>G (p.Val230=)
n.1772-2642A>C
c.1215T>G (p.Val405=)
c.723T>G (p.Val241=)
 dbSNP gnomAD v2 gnomAD v4
2g.27364782A>GCA425410150EIF2B4,GTF3C2-AS2c.1308T>C (p.Val436=)
c.*574T>C (n.*574T>C)
c.1305T>C (p.Val435=)
c.1368T>C (p.Val456=)
n.301T>C
c.1371T>C (p.Val457=)
c.1299T>C (p.Val433=)
c.1263T>C (p.Val421=)
c.1260T>C (p.Val420=)
c.690T>C (p.Val230=)
n.1772-2642A>G
c.1215T>C (p.Val405=)
c.723T>C (p.Val241=)
2g.27364782A>TCA425410152EIF2B4,GTF3C2-AS2c.1308T>A (p.Val436=)
c.*574T>A (n.*574T>A)
c.1305T>A (p.Val435=)
c.1368T>A (p.Val456=)
n.301T>A
c.1371T>A (p.Val457=)
c.1299T>A (p.Val433=)
c.1263T>A (p.Val421=)
c.1260T>A (p.Val420=)
c.690T>A (p.Val230=)
n.1772-2642A>T
c.1215T>A (p.Val405=)
c.723T>A (p.Val241=)
2g.27364783A>CCA346197033EIF2B4,GTF3C2-AS2c.1307T>G (p.Val436Gly)
c.*573T>G (n.*573T>G)
c.1304T>G (p.Val435Gly)
c.1367T>G (p.Val456Gly)
n.300T>G
c.1370T>G (p.Val457Gly)
c.1298T>G (p.Val433Gly)
c.1262T>G (p.Val421Gly)
c.1259T>G (p.Val420Gly)
c.689T>G (p.Val230Gly)
n.1772-2641A>C
c.1214T>G (p.Val405Gly)
c.722T>G (p.Val241Gly)
2g.27364783A>GCA346197035EIF2B4,GTF3C2-AS2c.1307T>C (p.Val436Ala)
c.*573T>C (n.*573T>C)
c.1304T>C (p.Val435Ala)
c.1367T>C (p.Val456Ala)
n.300T>C
c.1370T>C (p.Val457Ala)
c.1298T>C (p.Val433Ala)
c.1262T>C (p.Val421Ala)
c.1259T>C (p.Val420Ala)
c.689T>C (p.Val230Ala)
n.1772-2641A>G
c.1214T>C (p.Val405Ala)
c.722T>C (p.Val241Ala)
2g.27364783A>TCA346197034EIF2B4,GTF3C2-AS2c.1307T>A (p.Val436Asp)
c.*573T>A (n.*573T>A)
c.1304T>A (p.Val435Asp)
c.1367T>A (p.Val456Asp)
n.300T>A
c.1370T>A (p.Val457Asp)
c.1298T>A (p.Val433Asp)
c.1262T>A (p.Val421Asp)
c.1259T>A (p.Val420Asp)
c.689T>A (p.Val230Asp)
n.1772-2641A>T
c.1214T>A (p.Val405Asp)
c.722T>A (p.Val241Asp)
2g.27364784C>ACA346197036EIF2B4,GTF3C2-AS2c.1306G>T (p.Val436Phe)
c.*572G>T (n.*572G>T)
c.1303G>T (p.Val435Phe)
c.1366G>T (p.Val456Phe)
n.299G>T
c.1369G>T (p.Val457Phe)
c.1297G>T (p.Val433Phe)
c.1261G>T (p.Val421Phe)
c.1258G>T (p.Val420Phe)
c.688G>T (p.Val230Phe)
n.1772-2640C>A
c.1213G>T (p.Val405Phe)
c.721G>T (p.Val241Phe)
2g.27364784C>GCA346197039EIF2B4,GTF3C2-AS2c.1306G>C (p.Val436Leu)
c.*572G>C (n.*572G>C)
c.1303G>C (p.Val435Leu)
c.1366G>C (p.Val456Leu)
n.299G>C
c.1369G>C (p.Val457Leu)
c.1297G>C (p.Val433Leu)
c.1261G>C (p.Val421Leu)
c.1258G>C (p.Val420Leu)
c.688G>C (p.Val230Leu)
n.1772-2640C>G
c.1213G>C (p.Val405Leu)
c.721G>C (p.Val241Leu)
2g.27364784C>TCA346197037EIF2B4,GTF3C2-AS2c.1306G>A (p.Val436Ile)
c.*572G>A (n.*572G>A)
c.1303G>A (p.Val435Ile)
c.1366G>A (p.Val456Ile)
n.299G>A
c.1369G>A (p.Val457Ile)
c.1297G>A (p.Val433Ile)
c.1261G>A (p.Val421Ile)
c.1258G>A (p.Val420Ile)
c.688G>A (p.Val230Ile)
n.1772-2640C>T
c.1213G>A (p.Val405Ile)
c.721G>A (p.Val241Ile)
2g.27364785C>ACA425410164EIF2B4,GTF3C2-AS2c.1305G>T (p.Leu435=)
c.*571G>T (n.*571G>T)
c.1302G>T (p.Leu434=)
c.1365G>T (p.Leu455=)
n.298G>T
c.1368G>T (p.Leu456=)
c.1296G>T (p.Leu432=)
c.1260G>T (p.Leu420=)
c.1257G>T (p.Leu419=)
c.687G>T (p.Leu229=)
n.1772-2639C>A
c.1212G>T (p.Leu404=)
c.720G>T (p.Leu240=)
2g.27364785C=CA1240242924EIF2B4,GTF3C2-AS2c.1305G= (p.Leu435=)
c.*571G= (n.*571G=)
c.1302G= (p.Leu434=)
c.1365G= (p.Leu455=)
n.298G=
c.1368G= (p.Leu456=)
c.1296G= (p.Leu432=)
c.1260G= (p.Leu420=)
c.1257G= (p.Leu419=)
c.687G= (p.Leu229=)
n.1772-2639C=
c.1212G= (p.Leu404=)
c.720G= (p.Leu240=)
2g.27364785C>GCA425410166EIF2B4,GTF3C2-AS2c.1305G>C (p.Leu435=)
c.*571G>C (n.*571G>C)
c.1302G>C (p.Leu434=)
c.1365G>C (p.Leu455=)
n.298G>C
c.1368G>C (p.Leu456=)
c.1296G>C (p.Leu432=)
c.1260G>C (p.Leu420=)
c.1257G>C (p.Leu419=)
c.687G>C (p.Leu229=)
n.1772-2639C>G
c.1212G>C (p.Leu404=)
c.720G>C (p.Leu240=)
2g.27364785C>TCA425410167EIF2B4,GTF3C2-AS2c.1305G>A (p.Leu435=)
c.*571G>A (n.*571G>A)
c.1302G>A (p.Leu434=)
c.1365G>A (p.Leu455=)
n.298G>A
c.1368G>A (p.Leu456=)
c.1296G>A (p.Leu432=)
c.1260G>A (p.Leu420=)
c.1257G>A (p.Leu419=)
c.687G>A (p.Leu229=)
n.1772-2639C>T
c.1212G>A (p.Leu404=)
c.720G>A (p.Leu240=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.27364786A>CCA346197040EIF2B4,GTF3C2-AS2c.1304T>G (p.Leu435Arg)
c.*570T>G (n.*570T>G)
c.1301T>G (p.Leu434Arg)
c.1364T>G (p.Leu455Arg)
n.297T>G
c.1367T>G (p.Leu456Arg)
c.1295T>G (p.Leu432Arg)
c.1259T>G (p.Leu420Arg)
c.1256T>G (p.Leu419Arg)
c.686T>G (p.Leu229Arg)
n.1772-2638A>C
c.1211T>G (p.Leu404Arg)
c.719T>G (p.Leu240Arg)
2g.27364786A>GCA346197041EIF2B4,GTF3C2-AS2c.1304T>C (p.Leu435Pro)
c.*570T>C (n.*570T>C)
c.1301T>C (p.Leu434Pro)
c.1364T>C (p.Leu455Pro)
n.297T>C
c.1367T>C (p.Leu456Pro)
c.1295T>C (p.Leu432Pro)
c.1259T>C (p.Leu420Pro)
c.1256T>C (p.Leu419Pro)
c.686T>C (p.Leu229Pro)
n.1772-2638A>G
c.1211T>C (p.Leu404Pro)
c.719T>C (p.Leu240Pro)
 gnomAD v4
2g.27364786A>TCA346197042EIF2B4,GTF3C2-AS2c.1304T>A (p.Leu435Gln)
c.*570T>A (n.*570T>A)
c.1301T>A (p.Leu434Gln)
c.1364T>A (p.Leu455Gln)
n.297T>A
c.1367T>A (p.Leu456Gln)
c.1295T>A (p.Leu432Gln)
c.1259T>A (p.Leu420Gln)
c.1256T>A (p.Leu419Gln)
c.686T>A (p.Leu229Gln)
n.1772-2638A>T
c.1211T>A (p.Leu404Gln)
c.719T>A (p.Leu240Gln)
2g.27364787G>ACA44509629EIF2B4,GTF3C2-AS2c.1303C>T (p.Leu435=)
c.*569C>T (n.*569C>T)
c.1300C>T (p.Leu434=)
c.1363C>T (p.Leu455=)
n.296C>T
c.1366C>T (p.Leu456=)
c.1294C>T (p.Leu432=)
c.1258C>T (p.Leu420=)
c.1255C>T (p.Leu419=)
c.685C>T (p.Leu229=)
n.1772-2637G>A
c.1210C>T (p.Leu404=)
c.718C>T (p.Leu240=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27364787G>CCA346197044EIF2B4,GTF3C2-AS2c.1303C>G (p.Leu435Val)
c.*569C>G (n.*569C>G)
c.1300C>G (p.Leu434Val)
c.1363C>G (p.Leu455Val)
n.296C>G
c.1366C>G (p.Leu456Val)
c.1294C>G (p.Leu432Val)
c.1258C>G (p.Leu420Val)
c.1255C>G (p.Leu419Val)
c.685C>G (p.Leu229Val)
n.1772-2637G>C
c.1210C>G (p.Leu404Val)
c.718C>G (p.Leu240Val)
 gnomAD v4
2g.27364787G=CA1240242925EIF2B4,GTF3C2-AS2c.1303C= (p.Leu435=)
c.*569C= (n.*569C=)
c.1300C= (p.Leu434=)
c.1363C= (p.Leu455=)
n.296C=
c.1366C= (p.Leu456=)
c.1294C= (p.Leu432=)
c.1258C= (p.Leu420=)
c.1255C= (p.Leu419=)
c.685C= (p.Leu229=)
n.1772-2637G=
c.1210C= (p.Leu404=)
c.718C= (p.Leu240=)
2g.27364787G>TCA346197046EIF2B4,GTF3C2-AS2c.1303C>A (p.Leu435Met)
c.*569C>A (n.*569C>A)
c.1300C>A (p.Leu434Met)
c.1363C>A (p.Leu455Met)
n.296C>A
c.1366C>A (p.Leu456Met)
c.1294C>A (p.Leu432Met)
c.1258C>A (p.Leu420Met)
c.1255C>A (p.Leu419Met)
c.685C>A (p.Leu229Met)
n.1772-2637G>T
c.1210C>A (p.Leu404Met)
c.718C>A (p.Leu240Met)
2g.27364788C>ACA425410175EIF2B4,GTF3C2-AS2c.1302G>T (p.Val434=)
c.*568G>T (n.*568G>T)
c.1299G>T (p.Val433=)
c.1362G>T (p.Val454=)
n.295G>T
c.1365G>T (p.Val455=)
c.1293G>T (p.Val431=)
c.1257G>T (p.Val419=)
c.1254G>T (p.Val418=)
c.684G>T (p.Val228=)
n.1772-2636C>A
c.1209G>T (p.Val403=)
c.717G>T (p.Val239=)
 ClinVar
2g.27364788C=CA1240242926EIF2B4,GTF3C2-AS2c.1302G= (p.Val434=)
c.*568G= (n.*568G=)
c.1299G= (p.Val433=)
c.1362G= (p.Val454=)
n.295G=
c.1365G= (p.Val455=)
c.1293G= (p.Val431=)
c.1257G= (p.Val419=)
c.1254G= (p.Val418=)
c.684G= (p.Val228=)
n.1772-2636C=
c.1209G= (p.Val403=)
c.717G= (p.Val239=)
2g.27364788C>GCA425410177EIF2B4,GTF3C2-AS2c.1302G>C (p.Val434=)
c.*568G>C (n.*568G>C)
c.1299G>C (p.Val433=)
c.1362G>C (p.Val454=)
n.295G>C
c.1365G>C (p.Val455=)
c.1293G>C (p.Val431=)
c.1257G>C (p.Val419=)
c.1254G>C (p.Val418=)
c.684G>C (p.Val228=)
n.1772-2636C>G
c.1209G>C (p.Val403=)
c.717G>C (p.Val239=)
2g.27364788C>TCA425410178EIF2B4,GTF3C2-AS2c.1302G>A (p.Val434=)
c.*568G>A (n.*568G>A)
c.1299G>A (p.Val433=)
c.1362G>A (p.Val454=)
n.295G>A
c.1365G>A (p.Val455=)
c.1293G>A (p.Val431=)
c.1257G>A (p.Val419=)
c.1254G>A (p.Val418=)
c.684G>A (p.Val228=)
n.1772-2636C>T
c.1209G>A (p.Val403=)
c.717G>A (p.Val239=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27364789A>CCA346197048EIF2B4,GTF3C2-AS2c.1301T>G (p.Val434Gly)
c.*567T>G (n.*567T>G)
c.1298T>G (p.Val433Gly)
c.1361T>G (p.Val454Gly)
n.294T>G
c.1364T>G (p.Val455Gly)
c.1292T>G (p.Val431Gly)
c.1256T>G (p.Val419Gly)
c.1253T>G (p.Val418Gly)
c.683T>G (p.Val228Gly)
n.1772-2635A>C
c.1208T>G (p.Val403Gly)
c.716T>G (p.Val239Gly)
2g.27364789A>GCA346197049EIF2B4,GTF3C2-AS2c.1301T>C (p.Val434Ala)
c.*567T>C (n.*567T>C)
c.1298T>C (p.Val433Ala)
c.1361T>C (p.Val454Ala)
n.294T>C
c.1364T>C (p.Val455Ala)
c.1292T>C (p.Val431Ala)
c.1256T>C (p.Val419Ala)
c.1253T>C (p.Val418Ala)
c.683T>C (p.Val228Ala)
n.1772-2635A>G
c.1208T>C (p.Val403Ala)
c.716T>C (p.Val239Ala)
2g.27364789A>TCA346197051EIF2B4,GTF3C2-AS2c.1301T>A (p.Val434Glu)
c.*567T>A (n.*567T>A)
c.1298T>A (p.Val433Glu)
c.1361T>A (p.Val454Glu)
n.294T>A
c.1364T>A (p.Val455Glu)
c.1292T>A (p.Val431Glu)
c.1256T>A (p.Val419Glu)
c.1253T>A (p.Val418Glu)
c.683T>A (p.Val228Glu)
n.1772-2635A>T
c.1208T>A (p.Val403Glu)
c.716T>A (p.Val239Glu)
2g.27364790C>ACA346197053EIF2B4,GTF3C2-AS2c.1300G>T (p.Val434Leu)
c.*566G>T (n.*566G>T)
c.1297G>T (p.Val433Leu)
c.1360G>T (p.Val454Leu)
n.293G>T
c.1363G>T (p.Val455Leu)
c.1291G>T (p.Val431Leu)
c.1255G>T (p.Val419Leu)
c.1252G>T (p.Val418Leu)
c.682G>T (p.Val228Leu)
n.1772-2634C>A
c.1207G>T (p.Val403Leu)
c.715G>T (p.Val239Leu)
 dbSNP
2g.27364790C=CA1240242927EIF2B4,GTF3C2-AS2c.1300G= (p.Val434=)
c.*566G= (n.*566G=)
c.1297G= (p.Val433=)
c.1360G= (p.Val454=)
n.293G=
c.1363G= (p.Val455=)
c.1291G= (p.Val431=)
c.1255G= (p.Val419=)
c.1252G= (p.Val418=)
c.682G= (p.Val228=)
n.1772-2634C=
c.1207G= (p.Val403=)
c.715G= (p.Val239=)
2g.27364790C>GCA346197055EIF2B4,GTF3C2-AS2c.1300G>C (p.Val434Leu)
c.*566G>C (n.*566G>C)
c.1297G>C (p.Val433Leu)
c.1360G>C (p.Val454Leu)
n.293G>C
c.1363G>C (p.Val455Leu)
c.1291G>C (p.Val431Leu)
c.1255G>C (p.Val419Leu)
c.1252G>C (p.Val418Leu)
c.682G>C (p.Val228Leu)
n.1772-2634C>G
c.1207G>C (p.Val403Leu)
c.715G>C (p.Val239Leu)
 gnomAD v4
2g.27364790C>TCA346197056EIF2B4,GTF3C2-AS2c.1300G>A (p.Val434Met)
c.*566G>A (n.*566G>A)
c.1297G>A (p.Val433Met)
c.1360G>A (p.Val454Met)
n.293G>A
c.1363G>A (p.Val455Met)
c.1291G>A (p.Val431Met)
c.1255G>A (p.Val419Met)
c.1252G>A (p.Val418Met)
c.682G>A (p.Val228Met)
n.1772-2634C>T
c.1207G>A (p.Val403Met)
c.715G>A (p.Val239Met)
2g.27364791T>ACA425410187EIF2B4,GTF3C2-AS2c.1299A>T (p.Pro433=)
c.*565A>T (n.*565A>T)
c.1296A>T (p.Pro432=)
c.1359A>T (p.Pro453=)
n.292A>T
c.1362A>T (p.Pro454=)
c.1290A>T (p.Pro430=)
c.1254A>T (p.Pro418=)
c.1251A>T (p.Pro417=)
c.681A>T (p.Pro227=)
n.1772-2633T>A
c.1206A>T (p.Pro402=)
c.714A>T (p.Pro238=)
2g.27364791T>CCA425410191EIF2B4,GTF3C2-AS2c.1299A>G (p.Pro433=)
c.*565A>G (n.*565A>G)
c.1296A>G (p.Pro432=)
c.1359A>G (p.Pro453=)
n.292A>G
c.1362A>G (p.Pro454=)
c.1290A>G (p.Pro430=)
c.1254A>G (p.Pro418=)
c.1251A>G (p.Pro417=)
c.681A>G (p.Pro227=)
n.1772-2633T>C
c.1206A>G (p.Pro402=)
c.714A>G (p.Pro238=)
 gnomAD v4
2g.27364791T>GCA425410194EIF2B4,GTF3C2-AS2c.1299A>C (p.Pro433=)
c.*565A>C (n.*565A>C)
c.1296A>C (p.Pro432=)
c.1359A>C (p.Pro453=)
n.292A>C
c.1362A>C (p.Pro454=)
c.1290A>C (p.Pro430=)
c.1254A>C (p.Pro418=)
c.1251A>C (p.Pro417=)
c.681A>C (p.Pro227=)
n.1772-2633T>G
c.1206A>C (p.Pro402=)
c.714A>C (p.Pro238=)
2g.27364792G>ACA346197057EIF2B4,GTF3C2-AS2c.1298C>T (p.Pro433Leu)
c.*564C>T (n.*564C>T)
c.1295C>T (p.Pro432Leu)
c.1358C>T (p.Pro453Leu)
n.291C>T
c.1361C>T (p.Pro454Leu)
c.1289C>T (p.Pro430Leu)
c.1253C>T (p.Pro418Leu)
c.1250C>T (p.Pro417Leu)
c.680C>T (p.Pro227Leu)
n.1772-2632G>A
c.1205C>T (p.Pro402Leu)
c.713C>T (p.Pro238Leu)
 ClinVar dbSNP gnomAD v4
2g.27364792G>CCA346197061EIF2B4,GTF3C2-AS2c.1298C>G (p.Pro433Arg)
c.*564C>G (n.*564C>G)
c.1295C>G (p.Pro432Arg)
c.1358C>G (p.Pro453Arg)
n.291C>G
c.1361C>G (p.Pro454Arg)
c.1289C>G (p.Pro430Arg)
c.1253C>G (p.Pro418Arg)
c.1250C>G (p.Pro417Arg)
c.680C>G (p.Pro227Arg)
n.1772-2632G>C
c.1205C>G (p.Pro402Arg)
c.713C>G (p.Pro238Arg)
2g.27364792G=CA1240242928EIF2B4,GTF3C2-AS2c.1298C= (p.Pro433=)
c.*564C= (n.*564C=)
c.1295C= (p.Pro432=)
c.1358C= (p.Pro453=)
n.291C=
c.1361C= (p.Pro454=)
c.1289C= (p.Pro430=)
c.1253C= (p.Pro418=)
c.1250C= (p.Pro417=)
c.680C= (p.Pro227=)
n.1772-2632G=
c.1205C= (p.Pro402=)
c.713C= (p.Pro238=)
2g.27364792G>TCA346197059EIF2B4,GTF3C2-AS2c.1298C>A (p.Pro433Gln)
c.*564C>A (n.*564C>A)
c.1295C>A (p.Pro432Gln)
c.1358C>A (p.Pro453Gln)
n.291C>A
c.1361C>A (p.Pro454Gln)
c.1289C>A (p.Pro430Gln)
c.1253C>A (p.Pro418Gln)
c.1250C>A (p.Pro417Gln)
c.680C>A (p.Pro227Gln)
n.1772-2632G>T
c.1205C>A (p.Pro402Gln)
c.713C>A (p.Pro238Gln)
2g.27364793delCA2658336178EIF2B4,GTF3C2-AS2c.1298del (p.Pro433GlnfsTer25)
c.*564del (n.*564del)
c.1295del (p.Pro432GlnfsTer25)
c.1358del (p.Pro453GlnfsTer25)
n.291del
c.1361del (p.Pro454GlnfsTer25)
c.1289del (p.Pro430GlnfsTer25)
c.1253del (p.Pro418GlnfsTer25)
c.1250del (p.Pro417GlnfsTer25)
c.680del (p.Pro227GlnfsTer25)
n.1772-2631del
c.1205del (p.Pro402GlnfsTer25)
c.713del (p.Pro238GlnfsTer25)
 gnomAD v4
2g.27364793G>ACA346197063EIF2B4,GTF3C2-AS2c.1297C>T (p.Pro433Ser)
c.*563C>T (n.*563C>T)
c.1294C>T (p.Pro432Ser)
c.1357C>T (p.Pro453Ser)
n.290C>T
c.1360C>T (p.Pro454Ser)
c.1288C>T (p.Pro430Ser)
c.1252C>T (p.Pro418Ser)
c.1249C>T (p.Pro417Ser)
c.679C>T (p.Pro227Ser)
n.1772-2631G>A
c.1204C>T (p.Pro402Ser)
c.712C>T (p.Pro238Ser)
2g.27364793G>CCA346197064EIF2B4,GTF3C2-AS2c.1297C>G (p.Pro433Ala)
c.*563C>G (n.*563C>G)
c.1294C>G (p.Pro432Ala)
c.1357C>G (p.Pro453Ala)
n.290C>G
c.1360C>G (p.Pro454Ala)
c.1288C>G (p.Pro430Ala)
c.1252C>G (p.Pro418Ala)
c.1249C>G (p.Pro417Ala)
c.679C>G (p.Pro227Ala)
n.1772-2631G>C
c.1204C>G (p.Pro402Ala)
c.712C>G (p.Pro238Ala)
2g.27364793G>TCA346197066EIF2B4,GTF3C2-AS2c.1297C>A (p.Pro433Thr)
c.*563C>A (n.*563C>A)
c.1294C>A (p.Pro432Thr)
c.1357C>A (p.Pro453Thr)
n.290C>A
c.1360C>A (p.Pro454Thr)
c.1288C>A (p.Pro430Thr)
c.1252C>A (p.Pro418Thr)
c.1249C>A (p.Pro417Thr)
c.679C>A (p.Pro227Thr)
n.1772-2631G>T
c.1204C>A (p.Pro402Thr)
c.712C>A (p.Pro238Thr)
2g.27364794T>ACA425410206EIF2B4,GTF3C2-AS2c.1296A>T (p.Val432=)
c.*562A>T (n.*562A>T)
c.1293A>T (p.Val431=)
c.1356A>T (p.Val452=)
n.289A>T
c.1359A>T (p.Val453=)
c.1287A>T (p.Val429=)
c.1251A>T (p.Val417=)
c.1248A>T (p.Val416=)
c.678A>T (p.Val226=)
n.1772-2630T>A
c.1203A>T (p.Val401=)
c.711A>T (p.Val237=)
2g.27364794T>CCA425410207EIF2B4,GTF3C2-AS2c.1296A>G (p.Val432=)
c.*562A>G (n.*562A>G)
c.1293A>G (p.Val431=)
c.1356A>G (p.Val452=)
n.289A>G
c.1359A>G (p.Val453=)
c.1287A>G (p.Val429=)
c.1251A>G (p.Val417=)
c.1248A>G (p.Val416=)
c.678A>G (p.Val226=)
n.1772-2630T>C
c.1203A>G (p.Val401=)
c.711A>G (p.Val237=)
 gnomAD v4
2g.27364794T>GCA425410210EIF2B4,GTF3C2-AS2c.1296A>C (p.Val432=)
c.*562A>C (n.*562A>C)
c.1293A>C (p.Val431=)
c.1356A>C (p.Val452=)
n.289A>C
c.1359A>C (p.Val453=)
c.1287A>C (p.Val429=)
c.1251A>C (p.Val417=)
c.1248A>C (p.Val416=)
c.678A>C (p.Val226=)
n.1772-2630T>G
c.1203A>C (p.Val401=)
c.711A>C (p.Val237=)
2g.27364795A=CA1240242929EIF2B4,GTF3C2-AS2c.1295T= (p.Val432=)
c.*561T= (n.*561T=)
c.1292T= (p.Val431=)
c.1355T= (p.Val452=)
n.288T=
c.1358T= (p.Val453=)
c.1286T= (p.Val429=)
c.1250T= (p.Val417=)
c.1247T= (p.Val416=)
c.677T= (p.Val226=)
n.1772-2629A=
c.1202T= (p.Val401=)
c.710T= (p.Val237=)
2g.27364795A>CCA346197068EIF2B4,GTF3C2-AS2c.1295T>G (p.Val432Gly)
c.*561T>G (n.*561T>G)
c.1292T>G (p.Val431Gly)
c.1355T>G (p.Val452Gly)
n.288T>G
c.1358T>G (p.Val453Gly)
c.1286T>G (p.Val429Gly)
c.1250T>G (p.Val417Gly)
c.1247T>G (p.Val416Gly)
c.677T>G (p.Val226Gly)
n.1772-2629A>C
c.1202T>G (p.Val401Gly)
c.710T>G (p.Val237Gly)
2g.27364795A>GCA1576606EIF2B4,GTF3C2-AS2c.1295T>C (p.Val432Ala)
c.*561T>C (n.*561T>C)
c.1292T>C (p.Val431Ala)
c.1355T>C (p.Val452Ala)
n.288T>C
c.1358T>C (p.Val453Ala)
c.1286T>C (p.Val429Ala)
c.1250T>C (p.Val417Ala)
c.1247T>C (p.Val416Ala)
c.677T>C (p.Val226Ala)
n.1772-2629A>G
c.1202T>C (p.Val401Ala)
c.710T>C (p.Val237Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364795A>TCA346197070EIF2B4,GTF3C2-AS2c.1295T>A (p.Val432Glu)
c.*561T>A (n.*561T>A)
c.1292T>A (p.Val431Glu)
c.1355T>A (p.Val452Glu)
n.288T>A
c.1358T>A (p.Val453Glu)
c.1286T>A (p.Val429Glu)
c.1250T>A (p.Val417Glu)
c.1247T>A (p.Val416Glu)
c.677T>A (p.Val226Glu)
n.1772-2629A>T
c.1202T>A (p.Val401Glu)
c.710T>A (p.Val237Glu)
2g.27364796C>ACA346197072EIF2B4,GTF3C2-AS2c.1294G>T (p.Val432Leu)
c.*560G>T (n.*560G>T)
c.1291G>T (p.Val431Leu)
c.1354G>T (p.Val452Leu)
n.287G>T
c.1357G>T (p.Val453Leu)
c.1285G>T (p.Val429Leu)
c.1249G>T (p.Val417Leu)
c.1246G>T (p.Val416Leu)
c.676G>T (p.Val226Leu)
n.1772-2628C>A
c.1201G>T (p.Val401Leu)
c.709G>T (p.Val237Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.27364796C=CA1240242930EIF2B4,GTF3C2-AS2c.1294G= (p.Val432=)
c.*560G= (n.*560G=)
c.1291G= (p.Val431=)
c.1354G= (p.Val452=)
n.287G=
c.1357G= (p.Val453=)
c.1285G= (p.Val429=)
c.1249G= (p.Val417=)
c.1246G= (p.Val416=)
c.676G= (p.Val226=)
n.1772-2628C=
c.1201G= (p.Val401=)
c.709G= (p.Val237=)
2g.27364796C>GCA346197073EIF2B4,GTF3C2-AS2c.1294G>C (p.Val432Leu)
c.*560G>C (n.*560G>C)
c.1291G>C (p.Val431Leu)
c.1354G>C (p.Val452Leu)
n.287G>C
c.1357G>C (p.Val453Leu)
c.1285G>C (p.Val429Leu)
c.1249G>C (p.Val417Leu)
c.1246G>C (p.Val416Leu)
c.676G>C (p.Val226Leu)
n.1772-2628C>G
c.1201G>C (p.Val401Leu)
c.709G>C (p.Val237Leu)
2g.27364796C>TCA346197075EIF2B4,GTF3C2-AS2c.1294G>A (p.Val432Ile)
c.*560G>A (n.*560G>A)
c.1291G>A (p.Val431Ile)
c.1354G>A (p.Val452Ile)
n.287G>A
c.1357G>A (p.Val453Ile)
c.1285G>A (p.Val429Ile)
c.1249G>A (p.Val417Ile)
c.1246G>A (p.Val416Ile)
c.676G>A (p.Val226Ile)
n.1772-2628C>T
c.1201G>A (p.Val401Ile)
c.709G>A (p.Val237Ile)
2g.27364797A=CA1240242931EIF2B4,GTF3C2-AS2c.1293T= (p.Asn431=)
c.*559T= (n.*559T=)
c.1290T= (p.Asn430=)
c.1353T= (p.Asn451=)
n.286T=
c.1356T= (p.Asn452=)
c.1284T= (p.Asn428=)
c.1248T= (p.Asn416=)
c.1245T= (p.Asn415=)
c.675T= (p.Asn225=)
n.1772-2627A=
c.1200T= (p.Asn400=)
c.708T= (p.Asn236=)
2g.27364797A>CCA346197078EIF2B4,GTF3C2-AS2c.1293T>G (p.Asn431Lys)
c.*559T>G (n.*559T>G)
c.1290T>G (p.Asn430Lys)
c.1353T>G (p.Asn451Lys)
n.286T>G
c.1356T>G (p.Asn452Lys)
c.1284T>G (p.Asn428Lys)
c.1248T>G (p.Asn416Lys)
c.1245T>G (p.Asn415Lys)
c.675T>G (p.Asn225Lys)
n.1772-2627A>C
c.1200T>G (p.Asn400Lys)
c.708T>G (p.Asn236Lys)
2g.27364797A>GCA1576607EIF2B4,GTF3C2-AS2c.1293T>C (p.Asn431=)
c.*559T>C (n.*559T>C)
c.1290T>C (p.Asn430=)
c.1353T>C (p.Asn451=)
n.286T>C
c.1356T>C (p.Asn452=)
c.1284T>C (p.Asn428=)
c.1248T>C (p.Asn416=)
c.1245T>C (p.Asn415=)
c.675T>C (p.Asn225=)
n.1772-2627A>G
c.1200T>C (p.Asn400=)
c.708T>C (p.Asn236=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364797A>TCA346197076EIF2B4,GTF3C2-AS2c.1293T>A (p.Asn431Lys)
c.*559T>A (n.*559T>A)
c.1290T>A (p.Asn430Lys)
c.1353T>A (p.Asn451Lys)
n.286T>A
c.1356T>A (p.Asn452Lys)
c.1284T>A (p.Asn428Lys)
c.1248T>A (p.Asn416Lys)
c.1245T>A (p.Asn415Lys)
c.675T>A (p.Asn225Lys)
n.1772-2627A>T
c.1200T>A (p.Asn400Lys)
c.708T>A (p.Asn236Lys)
2g.27364798T>ACA346197080EIF2B4,GTF3C2-AS2c.1292A>T (p.Asn431Ile)
c.*558A>T (n.*558A>T)
c.1289A>T (p.Asn430Ile)
c.1352A>T (p.Asn451Ile)
n.285A>T
c.1355A>T (p.Asn452Ile)
c.1283A>T (p.Asn428Ile)
c.1247A>T (p.Asn416Ile)
c.1244A>T (p.Asn415Ile)
c.674A>T (p.Asn225Ile)
n.1772-2626T>A
c.1199A>T (p.Asn400Ile)
c.707A>T (p.Asn236Ile)
2g.27364798T>CCA346197081EIF2B4,GTF3C2-AS2c.1292A>G (p.Asn431Ser)
c.*558A>G (n.*558A>G)
c.1289A>G (p.Asn430Ser)
c.1352A>G (p.Asn451Ser)
n.285A>G
c.1355A>G (p.Asn452Ser)
c.1283A>G (p.Asn428Ser)
c.1247A>G (p.Asn416Ser)
c.1244A>G (p.Asn415Ser)
c.674A>G (p.Asn225Ser)
n.1772-2626T>C
c.1199A>G (p.Asn400Ser)
c.707A>G (p.Asn236Ser)
2g.27364798T>GCA346197083EIF2B4,GTF3C2-AS2c.1292A>C (p.Asn431Thr)
c.*558A>C (n.*558A>C)
c.1289A>C (p.Asn430Thr)
c.1352A>C (p.Asn451Thr)
n.285A>C
c.1355A>C (p.Asn452Thr)
c.1283A>C (p.Asn428Thr)
c.1247A>C (p.Asn416Thr)
c.1244A>C (p.Asn415Thr)
c.674A>C (p.Asn225Thr)
n.1772-2626T>G
c.1199A>C (p.Asn400Thr)
c.707A>C (p.Asn236Thr)
2g.27364799T>ACA346197084EIF2B4,GTF3C2-AS2c.1291A>T (p.Asn431Tyr)
c.*557A>T (n.*557A>T)
c.1288A>T (p.Asn430Tyr)
c.1351A>T (p.Asn451Tyr)
n.284A>T
c.1354A>T (p.Asn452Tyr)
c.1282A>T (p.Asn428Tyr)
c.1246A>T (p.Asn416Tyr)
c.1243A>T (p.Asn415Tyr)
c.673A>T (p.Asn225Tyr)
n.1772-2625T>A
c.1198A>T (p.Asn400Tyr)
c.706A>T (p.Asn236Tyr)
2g.27364799T>CCA346197086EIF2B4,GTF3C2-AS2c.1291A>G (p.Asn431Asp)
c.*557A>G (n.*557A>G)
c.1288A>G (p.Asn430Asp)
c.1351A>G (p.Asn451Asp)
n.284A>G
c.1354A>G (p.Asn452Asp)
c.1282A>G (p.Asn428Asp)
c.1246A>G (p.Asn416Asp)
c.1243A>G (p.Asn415Asp)
c.673A>G (p.Asn225Asp)
n.1772-2625T>C
c.1198A>G (p.Asn400Asp)
c.706A>G (p.Asn236Asp)
 ClinVar gnomAD v4
2g.27364799T>GCA346197088EIF2B4,GTF3C2-AS2c.1291A>C (p.Asn431His)
c.*557A>C (n.*557A>C)
c.1288A>C (p.Asn430His)
c.1351A>C (p.Asn451His)
n.284A>C
c.1354A>C (p.Asn452His)
c.1282A>C (p.Asn428His)
c.1246A>C (p.Asn416His)
c.1243A>C (p.Asn415His)
c.673A>C (p.Asn225His)
n.1772-2625T>G
c.1198A>C (p.Asn400His)
c.706A>C (p.Asn236His)
2g.27364800A=CA1240242932EIF2B4,GTF3C2-AS2c.1290T= (p.His430=)
c.*556T= (n.*556T=)
c.1287T= (p.His429=)
c.1350T= (p.His450=)
n.283T=
c.1353T= (p.His451=)
c.1281T= (p.His427=)
c.1245T= (p.His415=)
c.1242T= (p.His414=)
c.672T= (p.His224=)
n.1772-2624A=
c.1197T= (p.His399=)
c.705T= (p.His235=)
2g.27364800A>CCA346197089EIF2B4,GTF3C2-AS2c.1290T>G (p.His430Gln)
c.*556T>G (n.*556T>G)
c.1287T>G (p.His429Gln)
c.1350T>G (p.His450Gln)
n.283T>G
c.1353T>G (p.His451Gln)
c.1281T>G (p.His427Gln)
c.1245T>G (p.His415Gln)
c.1242T>G (p.His414Gln)
c.672T>G (p.His224Gln)
n.1772-2624A>C
c.1197T>G (p.His399Gln)
c.705T>G (p.His235Gln)
2g.27364800A>GCA1576608EIF2B4,GTF3C2-AS2c.1290T>C (p.His430=)
c.*556T>C (n.*556T>C)
c.1287T>C (p.His429=)
c.1350T>C (p.His450=)
n.283T>C
c.1353T>C (p.His451=)
c.1281T>C (p.His427=)
c.1245T>C (p.His415=)
c.1242T>C (p.His414=)
c.672T>C (p.His224=)
n.1772-2624A>G
c.1197T>C (p.His399=)
c.705T>C (p.His235=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364800A>TCA346197091EIF2B4,GTF3C2-AS2c.1290T>A (p.His430Gln)
c.*556T>A (n.*556T>A)
c.1287T>A (p.His429Gln)
c.1350T>A (p.His450Gln)
n.283T>A
c.1353T>A (p.His451Gln)
c.1281T>A (p.His427Gln)
c.1245T>A (p.His415Gln)
c.1242T>A (p.His414Gln)
c.672T>A (p.His224Gln)
n.1772-2624A>T
c.1197T>A (p.His399Gln)
c.705T>A (p.His235Gln)
2g.27364801T>ACA346197092EIF2B4,GTF3C2-AS2c.1289A>T (p.His430Leu)
c.*555A>T (n.*555A>T)
c.1286A>T (p.His429Leu)
c.1349A>T (p.His450Leu)
n.282A>T
c.1352A>T (p.His451Leu)
c.1280A>T (p.His427Leu)
c.1244A>T (p.His415Leu)
c.1241A>T (p.His414Leu)
c.671A>T (p.His224Leu)
n.1772-2623T>A
c.1196A>T (p.His399Leu)
c.704A>T (p.His235Leu)
2g.27364801T>CCA346197093EIF2B4,GTF3C2-AS2c.1289A>G (p.His430Arg)
c.*555A>G (n.*555A>G)
c.1286A>G (p.His429Arg)
c.1349A>G (p.His450Arg)
n.282A>G
c.1352A>G (p.His451Arg)
c.1280A>G (p.His427Arg)
c.1244A>G (p.His415Arg)
c.1241A>G (p.His414Arg)
c.671A>G (p.His224Arg)
n.1772-2623T>C
c.1196A>G (p.His399Arg)
c.704A>G (p.His235Arg)
2g.27364801T>GCA346197095EIF2B4,GTF3C2-AS2c.1289A>C (p.His430Pro)
c.*555A>C (n.*555A>C)
c.1286A>C (p.His429Pro)
c.1349A>C (p.His450Pro)
n.282A>C
c.1352A>C (p.His451Pro)
c.1280A>C (p.His427Pro)
c.1244A>C (p.His415Pro)
c.1241A>C (p.His414Pro)
c.671A>C (p.His224Pro)
n.1772-2623T>G
c.1196A>C (p.His399Pro)
c.704A>C (p.His235Pro)
2g.27364802G>ACA346197100EIF2B4,GTF3C2-AS2c.1288C>T (p.His430Tyr)
c.*554C>T (n.*554C>T)
c.1285C>T (p.His429Tyr)
c.1348C>T (p.His450Tyr)
n.281C>T
c.1351C>T (p.His451Tyr)
c.1279C>T (p.His427Tyr)
c.1243C>T (p.His415Tyr)
c.1240C>T (p.His414Tyr)
c.670C>T (p.His224Tyr)
n.1772-2622G>A
c.1195C>T (p.His399Tyr)
c.703C>T (p.His235Tyr)
 gnomAD v4
2g.27364802G>CCA346197097EIF2B4,GTF3C2-AS2c.1288C>G (p.His430Asp)
c.*554C>G (n.*554C>G)
c.1285C>G (p.His429Asp)
c.1348C>G (p.His450Asp)
n.281C>G
c.1351C>G (p.His451Asp)
c.1279C>G (p.His427Asp)
c.1243C>G (p.His415Asp)
c.1240C>G (p.His414Asp)
c.670C>G (p.His224Asp)
n.1772-2622G>C
c.1195C>G (p.His399Asp)
c.703C>G (p.His235Asp)
2g.27364802G>TCA346197099EIF2B4,GTF3C2-AS2c.1288C>A (p.His430Asn)
c.*554C>A (n.*554C>A)
c.1285C>A (p.His429Asn)
c.1348C>A (p.His450Asn)
n.281C>A
c.1351C>A (p.His451Asn)
c.1279C>A (p.His427Asn)
c.1243C>A (p.His415Asn)
c.1240C>A (p.His414Asn)
c.670C>A (p.His224Asn)
n.1772-2622G>T
c.1195C>A (p.His399Asn)
c.703C>A (p.His235Asn)
2g.27364803G>ACA425410230EIF2B4,GTF3C2-AS2c.1287C>T (p.Ala429=)
c.*553C>T (n.*553C>T)
c.1284C>T (p.Ala428=)
c.1347C>T (p.Ala449=)
n.280C>T
c.1350C>T (p.Ala450=)
c.1278C>T (p.Ala426=)
c.1242C>T (p.Ala414=)
c.1239C>T (p.Ala413=)
c.669C>T (p.Ala223=)
n.1772-2621G>A
c.1194C>T (p.Ala398=)
c.702C>T (p.Ala234=)
 gnomAD v4
2g.27364803G>CCA425410232EIF2B4,GTF3C2-AS2c.1287C>G (p.Ala429=)
c.*553C>G (n.*553C>G)
c.1284C>G (p.Ala428=)
c.1347C>G (p.Ala449=)
n.280C>G
c.1350C>G (p.Ala450=)
c.1278C>G (p.Ala426=)
c.1242C>G (p.Ala414=)
c.1239C>G (p.Ala413=)
c.669C>G (p.Ala223=)
n.1772-2621G>C
c.1194C>G (p.Ala398=)
c.702C>G (p.Ala234=)
2g.27364803G>TCA425410237EIF2B4,GTF3C2-AS2c.1287C>A (p.Ala429=)
c.*553C>A (n.*553C>A)
c.1284C>A (p.Ala428=)
c.1347C>A (p.Ala449=)
n.280C>A
c.1350C>A (p.Ala450=)
c.1278C>A (p.Ala426=)
c.1242C>A (p.Ala414=)
c.1239C>A (p.Ala413=)
c.669C>A (p.Ala223=)
n.1772-2621G>T
c.1194C>A (p.Ala398=)
c.702C>A (p.Ala234=)
2g.27364804G>ACA346197101EIF2B4,GTF3C2-AS2c.1286C>T (p.Ala429Val)
c.*552C>T (n.*552C>T)
c.1283C>T (p.Ala428Val)
c.1346C>T (p.Ala449Val)
n.279C>T
c.1349C>T (p.Ala450Val)
c.1277C>T (p.Ala426Val)
c.1241C>T (p.Ala414Val)
c.1238C>T (p.Ala413Val)
c.668C>T (p.Ala223Val)
n.1772-2620G>A
c.1193C>T (p.Ala398Val)
c.701C>T (p.Ala234Val)
2g.27364804G>CCA346197103EIF2B4,GTF3C2-AS2c.1286C>G (p.Ala429Gly)
c.*552C>G (n.*552C>G)
c.1283C>G (p.Ala428Gly)
c.1346C>G (p.Ala449Gly)
n.279C>G
c.1349C>G (p.Ala450Gly)
c.1277C>G (p.Ala426Gly)
c.1241C>G (p.Ala414Gly)
c.1238C>G (p.Ala413Gly)
c.668C>G (p.Ala223Gly)
n.1772-2620G>C
c.1193C>G (p.Ala398Gly)
c.701C>G (p.Ala234Gly)
2g.27364804G>TCA346197104EIF2B4,GTF3C2-AS2c.1286C>A (p.Ala429Asp)
c.*552C>A (n.*552C>A)
c.1283C>A (p.Ala428Asp)
c.1346C>A (p.Ala449Asp)
n.279C>A
c.1349C>A (p.Ala450Asp)
c.1277C>A (p.Ala426Asp)
c.1241C>A (p.Ala414Asp)
c.1238C>A (p.Ala413Asp)
c.668C>A (p.Ala223Asp)
n.1772-2620G>T
c.1193C>A (p.Ala398Asp)
c.701C>A (p.Ala234Asp)
2g.27364805C>ACA346197106EIF2B4,GTF3C2-AS2c.1285G>T (p.Ala429Ser)
c.*551G>T (n.*551G>T)
c.1282G>T (p.Ala428Ser)
c.1345G>T (p.Ala449Ser)
n.278G>T
c.1348G>T (p.Ala450Ser)
c.1276G>T (p.Ala426Ser)
c.1240G>T (p.Ala414Ser)
c.1237G>T (p.Ala413Ser)
c.667G>T (p.Ala223Ser)
n.1772-2619C>A
c.1192G>T (p.Ala398Ser)
c.700G>T (p.Ala234Ser)
2g.27364805C=CA1240242933EIF2B4,GTF3C2-AS2c.1285G= (p.Ala429=)
c.*551G= (n.*551G=)
c.1282G= (p.Ala428=)
c.1345G= (p.Ala449=)
n.278G=
c.1348G= (p.Ala450=)
c.1276G= (p.Ala426=)
c.1240G= (p.Ala414=)
c.1237G= (p.Ala413=)
c.667G= (p.Ala223=)
n.1772-2619C=
c.1192G= (p.Ala398=)
c.700G= (p.Ala234=)
2g.27364805C>GCA346197108EIF2B4,GTF3C2-AS2c.1285G>C (p.Ala429Pro)
c.*551G>C (n.*551G>C)
c.1282G>C (p.Ala428Pro)
c.1345G>C (p.Ala449Pro)
n.278G>C
c.1348G>C (p.Ala450Pro)
c.1276G>C (p.Ala426Pro)
c.1240G>C (p.Ala414Pro)
c.1237G>C (p.Ala413Pro)
c.667G>C (p.Ala223Pro)
n.1772-2619C>G
c.1192G>C (p.Ala398Pro)
c.700G>C (p.Ala234Pro)
2g.27364805C>TCA346197109EIF2B4,GTF3C2-AS2c.1285G>A (p.Ala429Thr)
c.*551G>A (n.*551G>A)
c.1282G>A (p.Ala428Thr)
c.1345G>A (p.Ala449Thr)
n.278G>A
c.1348G>A (p.Ala450Thr)
c.1276G>A (p.Ala426Thr)
c.1240G>A (p.Ala414Thr)
c.1237G>A (p.Ala413Thr)
c.667G>A (p.Ala223Thr)
n.1772-2619C>T
c.1192G>A (p.Ala398Thr)
c.700G>A (p.Ala234Thr)
 dbSNP
2g.27364806T>ACA425410243EIF2B4,GTF3C2-AS2c.1284A>T (p.Arg428=)
c.*550A>T (n.*550A>T)
c.1281A>T (p.Arg427=)
c.1344A>T (p.Arg448=)
n.277A>T
c.1347A>T (p.Arg449=)
c.1275A>T (p.Arg425=)
c.1239A>T (p.Arg413=)
c.1236A>T (p.Arg412=)
c.666A>T (p.Arg222=)
n.1772-2618T>A
c.1191A>T (p.Arg397=)
c.699A>T (p.Arg233=)
2g.27364806T>CCA425410249EIF2B4,GTF3C2-AS2c.1284A>G (p.Arg428=)
c.*550A>G (n.*550A>G)
c.1281A>G (p.Arg427=)
c.1344A>G (p.Arg448=)
n.277A>G
c.1347A>G (p.Arg449=)
c.1275A>G (p.Arg425=)
c.1239A>G (p.Arg413=)
c.1236A>G (p.Arg412=)
c.666A>G (p.Arg222=)
n.1772-2618T>C
c.1191A>G (p.Arg397=)
c.699A>G (p.Arg233=)
2g.27364806T>GCA425410251EIF2B4,GTF3C2-AS2c.1284A>C (p.Arg428=)
c.*550A>C (n.*550A>C)
c.1281A>C (p.Arg427=)
c.1344A>C (p.Arg448=)
n.277A>C
c.1347A>C (p.Arg449=)
c.1275A>C (p.Arg425=)
c.1239A>C (p.Arg413=)
c.1236A>C (p.Arg412=)
c.666A>C (p.Arg222=)
n.1772-2618T>G
c.1191A>C (p.Arg397=)
c.699A>C (p.Arg233=)
2g.27364807C>ACA346197110EIF2B4,GTF3C2-AS2c.1283G>T (p.Arg428Leu)
c.*549G>T (n.*549G>T)
c.1280G>T (p.Arg427Leu)
c.1343G>T (p.Arg448Leu)
n.276G>T
c.1346G>T (p.Arg449Leu)
c.1274G>T (p.Arg425Leu)
c.1238G>T (p.Arg413Leu)
c.1235G>T (p.Arg412Leu)
c.665G>T (p.Arg222Leu)
n.1772-2617C>A
c.1190G>T (p.Arg397Leu)
c.698G>T (p.Arg233Leu)
2g.27364807C=CA1240242934EIF2B4,GTF3C2-AS2c.1283G= (p.Arg428=)
c.*549G= (n.*549G=)
c.1280G= (p.Arg427=)
c.1343G= (p.Arg448=)
n.276G=
c.1346G= (p.Arg449=)
c.1274G= (p.Arg425=)
c.1238G= (p.Arg413=)
c.1235G= (p.Arg412=)
c.665G= (p.Arg222=)
n.1772-2617C=
c.1190G= (p.Arg397=)
c.698G= (p.Arg233=)
2g.27364807C>GCA346197112EIF2B4,GTF3C2-AS2c.1283G>C (p.Arg428Pro)
c.*549G>C (n.*549G>C)
c.1280G>C (p.Arg427Pro)
c.1343G>C (p.Arg448Pro)
n.276G>C
c.1346G>C (p.Arg449Pro)
c.1274G>C (p.Arg425Pro)
c.1238G>C (p.Arg413Pro)
c.1235G>C (p.Arg412Pro)
c.665G>C (p.Arg222Pro)
n.1772-2617C>G
c.1190G>C (p.Arg397Pro)
c.698G>C (p.Arg233Pro)
2g.27364807C>TCA1576609EIF2B4,GTF3C2-AS2c.1283G>A (p.Arg428Gln)
c.*549G>A (n.*549G>A)
c.1280G>A (p.Arg427Gln)
c.1343G>A (p.Arg448Gln)
n.276G>A
c.1346G>A (p.Arg449Gln)
c.1274G>A (p.Arg425Gln)
c.1238G>A (p.Arg413Gln)
c.1235G>A (p.Arg412Gln)
c.665G>A (p.Arg222Gln)
n.1772-2617C>T
c.1190G>A (p.Arg397Gln)
c.698G>A (p.Arg233Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364808G>ACA346197114EIF2B4,GTF3C2-AS2c.1282C>T (p.Arg428Ter)
c.*548C>T (n.*548C>T)
c.1279C>T (p.Arg427Ter)
c.1342C>T (p.Arg448Ter)
n.275C>T
c.1345C>T (p.Arg449Ter)
c.1273C>T (p.Arg425Ter)
c.1237C>T (p.Arg413Ter)
c.1234C>T (p.Arg412Ter)
c.664C>T (p.Arg222Ter)
n.1772-2616G>A
c.1189C>T (p.Arg397Ter)
c.697C>T (p.Arg233Ter)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.27364808G>CCA346197116EIF2B4,GTF3C2-AS2c.1282C>G (p.Arg428Gly)
c.*548C>G (n.*548C>G)
c.1279C>G (p.Arg427Gly)
c.1342C>G (p.Arg448Gly)
n.275C>G
c.1345C>G (p.Arg449Gly)
c.1273C>G (p.Arg425Gly)
c.1237C>G (p.Arg413Gly)
c.1234C>G (p.Arg412Gly)
c.664C>G (p.Arg222Gly)
n.1772-2616G>C
c.1189C>G (p.Arg397Gly)
c.697C>G (p.Arg233Gly)
2g.27364808G=CA1240242935EIF2B4,GTF3C2-AS2c.1282C= (p.Arg428=)
c.*548C= (n.*548C=)
c.1279C= (p.Arg427=)
c.1342C= (p.Arg448=)
n.275C=
c.1345C= (p.Arg449=)
c.1273C= (p.Arg425=)
c.1237C= (p.Arg413=)
c.1234C= (p.Arg412=)
c.664C= (p.Arg222=)
n.1772-2616G=
c.1189C= (p.Arg397=)
c.697C= (p.Arg233=)
2g.27364808G>TCA425410252EIF2B4,GTF3C2-AS2c.1282C>A (p.Arg428=)
c.*548C>A (n.*548C>A)
c.1279C>A (p.Arg427=)
c.1342C>A (p.Arg448=)
n.275C>A
c.1345C>A (p.Arg449=)
c.1273C>A (p.Arg425=)
c.1237C>A (p.Arg413=)
c.1234C>A (p.Arg412=)
c.664C>A (p.Arg222=)
n.1772-2616G>T
c.1189C>A (p.Arg397=)
c.697C>A (p.Arg233=)
2g.27364809A>CCA425410255EIF2B4,GTF3C2-AS2c.1281T>G (p.Ala427=)
c.*547T>G (n.*547T>G)
c.1278T>G (p.Ala426=)
c.1341T>G (p.Ala447=)
n.274T>G
c.1344T>G (p.Ala448=)
c.1272T>G (p.Ala424=)
c.1236T>G (p.Ala412=)
c.1233T>G (p.Ala411=)
c.663T>G (p.Ala221=)
n.1772-2615A>C
c.1188T>G (p.Ala396=)
c.696T>G (p.Ala232=)
2g.27364809A>GCA425410259EIF2B4,GTF3C2-AS2c.1281T>C (p.Ala427=)
c.*547T>C (n.*547T>C)
c.1278T>C (p.Ala426=)
c.1341T>C (p.Ala447=)
n.274T>C
c.1344T>C (p.Ala448=)
c.1272T>C (p.Ala424=)
c.1236T>C (p.Ala412=)
c.1233T>C (p.Ala411=)
c.663T>C (p.Ala221=)
n.1772-2615A>G
c.1188T>C (p.Ala396=)
c.696T>C (p.Ala232=)
2g.27364809A>TCA425410260EIF2B4,GTF3C2-AS2c.1281T>A (p.Ala427=)
c.*547T>A (n.*547T>A)
c.1278T>A (p.Ala426=)
c.1341T>A (p.Ala447=)
n.274T>A
c.1344T>A (p.Ala448=)
c.1272T>A (p.Ala424=)
c.1236T>A (p.Ala412=)
c.1233T>A (p.Ala411=)
c.663T>A (p.Ala221=)
n.1772-2615A>T
c.1188T>A (p.Ala396=)
c.696T>A (p.Ala232=)
2g.27364810G>ACA346197119EIF2B4,GTF3C2-AS2c.1280C>T (p.Ala427Val)
c.*546C>T (n.*546C>T)
c.1277C>T (p.Ala426Val)
c.1340C>T (p.Ala447Val)
n.273C>T
c.1343C>T (p.Ala448Val)
c.1271C>T (p.Ala424Val)
c.1235C>T (p.Ala412Val)
c.1232C>T (p.Ala411Val)
c.662C>T (p.Ala221Val)
n.1772-2614G>A
c.1187C>T (p.Ala396Val)
c.695C>T (p.Ala232Val)
2g.27364810G>CCA346197120EIF2B4,GTF3C2-AS2c.1280C>G (p.Ala427Gly)
c.*546C>G (n.*546C>G)
c.1277C>G (p.Ala426Gly)
c.1340C>G (p.Ala447Gly)
n.273C>G
c.1343C>G (p.Ala448Gly)
c.1271C>G (p.Ala424Gly)
c.1235C>G (p.Ala412Gly)
c.1232C>G (p.Ala411Gly)
c.662C>G (p.Ala221Gly)
n.1772-2614G>C
c.1187C>G (p.Ala396Gly)
c.695C>G (p.Ala232Gly)
2g.27364810G>TCA346197117EIF2B4,GTF3C2-AS2c.1280C>A (p.Ala427Asp)
c.*546C>A (n.*546C>A)
c.1277C>A (p.Ala426Asp)
c.1340C>A (p.Ala447Asp)
n.273C>A
c.1343C>A (p.Ala448Asp)
c.1271C>A (p.Ala424Asp)
c.1235C>A (p.Ala412Asp)
c.1232C>A (p.Ala411Asp)
c.662C>A (p.Ala221Asp)
n.1772-2614G>T
c.1187C>A (p.Ala396Asp)
c.695C>A (p.Ala232Asp)
2g.27364811C>ACA346197125EIF2B4,GTF3C2-AS2c.1279G>T (p.Ala427Ser)
c.*545G>T (n.*545G>T)
c.1276G>T (p.Ala426Ser)
c.1339G>T (p.Ala447Ser)
n.272G>T
c.1342G>T (p.Ala448Ser)
c.1270G>T (p.Ala424Ser)
c.1234G>T (p.Ala412Ser)
c.1231G>T (p.Ala411Ser)
c.661G>T (p.Ala221Ser)
n.1772-2613C>A
c.1186G>T (p.Ala396Ser)
c.694G>T (p.Ala232Ser)
2g.27364811C>GCA346197122EIF2B4,GTF3C2-AS2c.1279G>C (p.Ala427Pro)
c.*545G>C (n.*545G>C)
c.1276G>C (p.Ala426Pro)
c.1339G>C (p.Ala447Pro)
n.272G>C
c.1342G>C (p.Ala448Pro)
c.1270G>C (p.Ala424Pro)
c.1234G>C (p.Ala412Pro)
c.1231G>C (p.Ala411Pro)
c.661G>C (p.Ala221Pro)
n.1772-2613C>G
c.1186G>C (p.Ala396Pro)
c.694G>C (p.Ala232Pro)
2g.27364811C>TCA346197124EIF2B4,GTF3C2-AS2c.1279G>A (p.Ala427Thr)
c.*545G>A (n.*545G>A)
c.1276G>A (p.Ala426Thr)
c.1339G>A (p.Ala447Thr)
n.272G>A
c.1342G>A (p.Ala448Thr)
c.1270G>A (p.Ala424Thr)
c.1234G>A (p.Ala412Thr)
c.1231G>A (p.Ala411Thr)
c.661G>A (p.Ala221Thr)
n.1772-2613C>T
c.1186G>A (p.Ala396Thr)
c.694G>A (p.Ala232Thr)
 gnomAD v4
2g.27364812C>ACA425410263EIF2B4,GTF3C2-AS2c.1278G>T (p.Val426=)
c.*544G>T (n.*544G>T)
c.1275G>T (p.Val425=)
c.1338G>T (p.Val446=)
n.271G>T
c.1341G>T (p.Val447=)
c.1269G>T (p.Val423=)
c.1233G>T (p.Val411=)
c.1230G>T (p.Val410=)
c.660G>T (p.Val220=)
n.1772-2612C>A
c.1185G>T (p.Val395=)
c.693G>T (p.Val231=)
2g.27364812C>GCA425410264EIF2B4,GTF3C2-AS2c.1278G>C (p.Val426=)
c.*544G>C (n.*544G>C)
c.1275G>C (p.Val425=)
c.1338G>C (p.Val446=)
n.271G>C
c.1341G>C (p.Val447=)
c.1269G>C (p.Val423=)
c.1233G>C (p.Val411=)
c.1230G>C (p.Val410=)
c.660G>C (p.Val220=)
n.1772-2612C>G
c.1185G>C (p.Val395=)
c.693G>C (p.Val231=)
2g.27364812C>TCA425410265EIF2B4,GTF3C2-AS2c.1278G>A (p.Val426=)
c.*544G>A (n.*544G>A)
c.1275G>A (p.Val425=)
c.1338G>A (p.Val446=)
n.271G>A
c.1341G>A (p.Val447=)
c.1269G>A (p.Val423=)
c.1233G>A (p.Val411=)
c.1230G>A (p.Val410=)
c.660G>A (p.Val220=)
n.1772-2612C>T
c.1185G>A (p.Val395=)
c.693G>A (p.Val231=)
2g.27364813A=CA1240242936EIF2B4,GTF3C2-AS2c.1277T= (p.Val426=)
c.*543T= (n.*543T=)
c.1274T= (p.Val425=)
c.1337T= (p.Val446=)
n.270T=
c.1340T= (p.Val447=)
c.1268T= (p.Val423=)
c.1232T= (p.Val411=)
c.1229T= (p.Val410=)
c.659T= (p.Val220=)
n.1772-2611A=
c.1184T= (p.Val395=)
c.692T= (p.Val231=)
2g.27364813A>CCA346197126EIF2B4,GTF3C2-AS2c.1277T>G (p.Val426Gly)
c.*543T>G (n.*543T>G)
c.1274T>G (p.Val425Gly)
c.1337T>G (p.Val446Gly)
n.270T>G
c.1340T>G (p.Val447Gly)
c.1268T>G (p.Val423Gly)
c.1232T>G (p.Val411Gly)
c.1229T>G (p.Val410Gly)
c.659T>G (p.Val220Gly)
n.1772-2611A>C
c.1184T>G (p.Val395Gly)
c.692T>G (p.Val231Gly)
 dbSNP
2g.27364813A>GCA1576610EIF2B4,GTF3C2-AS2c.1277T>C (p.Val426Ala)
c.*543T>C (n.*543T>C)
c.1274T>C (p.Val425Ala)
c.1337T>C (p.Val446Ala)
n.270T>C
c.1340T>C (p.Val447Ala)
c.1268T>C (p.Val423Ala)
c.1232T>C (p.Val411Ala)
c.1229T>C (p.Val410Ala)
c.659T>C (p.Val220Ala)
n.1772-2611A>G
c.1184T>C (p.Val395Ala)
c.692T>C (p.Val231Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364813A>TCA346197128EIF2B4,GTF3C2-AS2c.1277T>A (p.Val426Glu)
c.*543T>A (n.*543T>A)
c.1274T>A (p.Val425Glu)
c.1337T>A (p.Val446Glu)
n.270T>A
c.1340T>A (p.Val447Glu)
c.1268T>A (p.Val423Glu)
c.1232T>A (p.Val411Glu)
c.1229T>A (p.Val410Glu)
c.659T>A (p.Val220Glu)
n.1772-2611A>T
c.1184T>A (p.Val395Glu)
c.692T>A (p.Val231Glu)
2g.27364814C>ACA346197130EIF2B4,GTF3C2-AS2c.1276G>T (p.Val426Leu)
c.*542G>T (n.*542G>T)
c.1273G>T (p.Val425Leu)
c.1336G>T (p.Val446Leu)
n.269G>T
c.1339G>T (p.Val447Leu)
c.1267G>T (p.Val423Leu)
c.1231G>T (p.Val411Leu)
c.1228G>T (p.Val410Leu)
c.658G>T (p.Val220Leu)
n.1772-2610C>A
c.1183G>T (p.Val395Leu)
c.691G>T (p.Val231Leu)
2g.27364814C>GCA346197132EIF2B4,GTF3C2-AS2c.1276G>C (p.Val426Leu)
c.*542G>C (n.*542G>C)
c.1273G>C (p.Val425Leu)
c.1336G>C (p.Val446Leu)
n.269G>C
c.1339G>C (p.Val447Leu)
c.1267G>C (p.Val423Leu)
c.1231G>C (p.Val411Leu)
c.1228G>C (p.Val410Leu)
c.658G>C (p.Val220Leu)
n.1772-2610C>G
c.1183G>C (p.Val395Leu)
c.691G>C (p.Val231Leu)
2g.27364814C>TCA346197133EIF2B4,GTF3C2-AS2c.1276G>A (p.Val426Met)
c.*542G>A (n.*542G>A)
c.1273G>A (p.Val425Met)
c.1336G>A (p.Val446Met)
n.269G>A
c.1339G>A (p.Val447Met)
c.1267G>A (p.Val423Met)
c.1231G>A (p.Val411Met)
c.1228G>A (p.Val410Met)
c.658G>A (p.Val220Met)
n.1772-2610C>T
c.1183G>A (p.Val395Met)
c.691G>A (p.Val231Met)
2g.27364815C>ACA425410268EIF2B4,GTF3C2-AS2c.1275G>T (p.Leu425=)
c.*541G>T (n.*541G>T)
c.1272G>T (p.Leu424=)
c.1335G>T (p.Leu445=)
n.268G>T
c.1338G>T (p.Leu446=)
c.1266G>T (p.Leu422=)
c.1230G>T (p.Leu410=)
c.1227G>T (p.Leu409=)
c.657G>T (p.Leu219=)
n.1772-2609C>A
c.1182G>T (p.Leu394=)
c.690G>T (p.Leu230=)
2g.27364815C=CA1240242937EIF2B4,GTF3C2-AS2c.1275G= (p.Leu425=)
c.*541G= (n.*541G=)
c.1272G= (p.Leu424=)
c.1335G= (p.Leu445=)
n.268G=
c.1338G= (p.Leu446=)
c.1266G= (p.Leu422=)
c.1230G= (p.Leu410=)
c.1227G= (p.Leu409=)
c.657G= (p.Leu219=)
n.1772-2609C=
c.1182G= (p.Leu394=)
c.690G= (p.Leu230=)
2g.27364815C>GCA425410269EIF2B4,GTF3C2-AS2c.1275G>C (p.Leu425=)
c.*541G>C (n.*541G>C)
c.1272G>C (p.Leu424=)
c.1335G>C (p.Leu445=)
n.268G>C
c.1338G>C (p.Leu446=)
c.1266G>C (p.Leu422=)
c.1230G>C (p.Leu410=)
c.1227G>C (p.Leu409=)
c.657G>C (p.Leu219=)
n.1772-2609C>G
c.1182G>C (p.Leu394=)
c.690G>C (p.Leu230=)
2g.27364815C>TCA1576611EIF2B4,GTF3C2-AS2c.1275G>A (p.Leu425=)
c.*541G>A (n.*541G>A)
c.1272G>A (p.Leu424=)
c.1335G>A (p.Leu445=)
n.268G>A
c.1338G>A (p.Leu446=)
c.1266G>A (p.Leu422=)
c.1230G>A (p.Leu410=)
c.1227G>A (p.Leu409=)
c.657G>A (p.Leu219=)
n.1772-2609C>T
c.1182G>A (p.Leu394=)
c.690G>A (p.Leu230=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364816A>CCA346197136EIF2B4,GTF3C2-AS2c.1274T>G (p.Leu425Arg)
c.*540T>G (n.*540T>G)
c.1271T>G (p.Leu424Arg)
c.1334T>G (p.Leu445Arg)
n.267T>G
c.1337T>G (p.Leu446Arg)
c.1265T>G (p.Leu422Arg)
c.1229T>G (p.Leu410Arg)
c.1226T>G (p.Leu409Arg)
c.656T>G (p.Leu219Arg)
n.1772-2608A>C
c.1181T>G (p.Leu394Arg)
c.689T>G (p.Leu230Arg)
2g.27364816A>GCA346197137EIF2B4,GTF3C2-AS2c.1274T>C (p.Leu425Pro)
c.*540T>C (n.*540T>C)
c.1271T>C (p.Leu424Pro)
c.1334T>C (p.Leu445Pro)
n.267T>C
c.1337T>C (p.Leu446Pro)
c.1265T>C (p.Leu422Pro)
c.1229T>C (p.Leu410Pro)
c.1226T>C (p.Leu409Pro)
c.656T>C (p.Leu219Pro)
n.1772-2608A>G
c.1181T>C (p.Leu394Pro)
c.689T>C (p.Leu230Pro)
2g.27364816A>TCA346197139EIF2B4,GTF3C2-AS2c.1274T>A (p.Leu425Gln)
c.*540T>A (n.*540T>A)
c.1271T>A (p.Leu424Gln)
c.1334T>A (p.Leu445Gln)
n.267T>A
c.1337T>A (p.Leu446Gln)
c.1265T>A (p.Leu422Gln)
c.1229T>A (p.Leu410Gln)
c.1226T>A (p.Leu409Gln)
c.656T>A (p.Leu219Gln)
n.1772-2608A>T
c.1181T>A (p.Leu394Gln)
c.689T>A (p.Leu230Gln)
2g.27364817G>ACA425410270EIF2B4,GTF3C2-AS2c.1273C>T (p.Leu425=)
c.*539C>T (n.*539C>T)
c.1270C>T (p.Leu424=)
c.1333C>T (p.Leu445=)
n.266C>T
c.1336C>T (p.Leu446=)
c.1264C>T (p.Leu422=)
c.1228C>T (p.Leu410=)
c.1225C>T (p.Leu409=)
c.655C>T (p.Leu219=)
n.1772-2607G>A
c.1180C>T (p.Leu394=)
c.688C>T (p.Leu230=)
2g.27364817G>CCA346197142EIF2B4,GTF3C2-AS2c.1273C>G (p.Leu425Val)
c.*539C>G (n.*539C>G)
c.1270C>G (p.Leu424Val)
c.1333C>G (p.Leu445Val)
n.266C>G
c.1336C>G (p.Leu446Val)
c.1264C>G (p.Leu422Val)
c.1228C>G (p.Leu410Val)
c.1225C>G (p.Leu409Val)
c.655C>G (p.Leu219Val)
n.1772-2607G>C
c.1180C>G (p.Leu394Val)
c.688C>G (p.Leu230Val)
2g.27364817G>TCA346197140EIF2B4,GTF3C2-AS2c.1273C>A (p.Leu425Met)
c.*539C>A (n.*539C>A)
c.1270C>A (p.Leu424Met)
c.1333C>A (p.Leu445Met)
n.266C>A
c.1336C>A (p.Leu446Met)
c.1264C>A (p.Leu422Met)
c.1228C>A (p.Leu410Met)
c.1225C>A (p.Leu409Met)
c.655C>A (p.Leu219Met)
n.1772-2607G>T
c.1180C>A (p.Leu394Met)
c.688C>A (p.Leu230Met)
2g.27364818G>ACA425410279EIF2B4,GTF3C2-AS2c.1272C>T (p.Ala424=)
c.*538C>T (n.*538C>T)
c.1269C>T (p.Ala423=)
c.1332C>T (p.Ala444=)
n.265C>T
c.1335C>T (p.Ala445=)
c.1263C>T (p.Ala421=)
c.1227C>T (p.Ala409=)
c.1224C>T (p.Ala408=)
c.654C>T (p.Ala218=)
n.1772-2606G>A
c.1179C>T (p.Ala393=)
c.687C>T (p.Ala229=)
2g.27364818G>CCA425410276EIF2B4,GTF3C2-AS2c.1272C>G (p.Ala424=)
c.*538C>G (n.*538C>G)
c.1269C>G (p.Ala423=)
c.1332C>G (p.Ala444=)
n.265C>G
c.1335C>G (p.Ala445=)
c.1263C>G (p.Ala421=)
c.1227C>G (p.Ala409=)
c.1224C>G (p.Ala408=)
c.654C>G (p.Ala218=)
n.1772-2606G>C
c.1179C>G (p.Ala393=)
c.687C>G (p.Ala229=)
2g.27364818G>TCA425410274EIF2B4,GTF3C2-AS2c.1272C>A (p.Ala424=)
c.*538C>A (n.*538C>A)
c.1269C>A (p.Ala423=)
c.1332C>A (p.Ala444=)
n.265C>A
c.1335C>A (p.Ala445=)
c.1263C>A (p.Ala421=)
c.1227C>A (p.Ala409=)
c.1224C>A (p.Ala408=)
c.654C>A (p.Ala218=)
n.1772-2606G>T
c.1179C>A (p.Ala393=)
c.687C>A (p.Ala229=)
2g.27364819G>ACA346197144EIF2B4,GTF3C2-AS2c.1271C>T (p.Ala424Val)
c.*537C>T (n.*537C>T)
c.1268C>T (p.Ala423Val)
c.1331C>T (p.Ala444Val)
n.264C>T
c.1334C>T (p.Ala445Val)
c.1262C>T (p.Ala421Val)
c.1226C>T (p.Ala409Val)
c.1223C>T (p.Ala408Val)
c.653C>T (p.Ala218Val)
n.1772-2605G>A
c.1178C>T (p.Ala393Val)
c.686C>T (p.Ala229Val)
2g.27364819G>CCA346197145EIF2B4,GTF3C2-AS2c.1271C>G (p.Ala424Gly)
c.*537C>G (n.*537C>G)
c.1268C>G (p.Ala423Gly)
c.1331C>G (p.Ala444Gly)
n.264C>G
c.1334C>G (p.Ala445Gly)
c.1262C>G (p.Ala421Gly)
c.1226C>G (p.Ala409Gly)
c.1223C>G (p.Ala408Gly)
c.653C>G (p.Ala218Gly)
n.1772-2605G>C
c.1178C>G (p.Ala393Gly)
c.686C>G (p.Ala229Gly)
2g.27364819G>TCA346197146EIF2B4,GTF3C2-AS2c.1271C>A (p.Ala424Asp)
c.*537C>A (n.*537C>A)
c.1268C>A (p.Ala423Asp)
c.1331C>A (p.Ala444Asp)
n.264C>A
c.1334C>A (p.Ala445Asp)
c.1262C>A (p.Ala421Asp)
c.1226C>A (p.Ala409Asp)
c.1223C>A (p.Ala408Asp)
c.653C>A (p.Ala218Asp)
n.1772-2605G>T
c.1178C>A (p.Ala393Asp)
c.686C>A (p.Ala229Asp)
2g.27364820C>ACA346197148EIF2B4,GTF3C2-AS2c.1270G>T (p.Ala424Ser)
c.*536G>T (n.*536G>T)
c.1267G>T (p.Ala423Ser)
c.1330G>T (p.Ala444Ser)
n.263G>T
c.1333G>T (p.Ala445Ser)
c.1261G>T (p.Ala421Ser)
c.1225G>T (p.Ala409Ser)
c.1222G>T (p.Ala408Ser)
c.652G>T (p.Ala218Ser)
n.1772-2604C>A
c.1177G>T (p.Ala393Ser)
c.685G>T (p.Ala229Ser)
2g.27364820C>GCA346197150EIF2B4,GTF3C2-AS2c.1270G>C (p.Ala424Pro)
c.*536G>C (n.*536G>C)
c.1267G>C (p.Ala423Pro)
c.1330G>C (p.Ala444Pro)
n.263G>C
c.1333G>C (p.Ala445Pro)
c.1261G>C (p.Ala421Pro)
c.1225G>C (p.Ala409Pro)
c.1222G>C (p.Ala408Pro)
c.652G>C (p.Ala218Pro)
n.1772-2604C>G
c.1177G>C (p.Ala393Pro)
c.685G>C (p.Ala229Pro)
2g.27364820C>TCA346197151EIF2B4,GTF3C2-AS2c.1270G>A (p.Ala424Thr)
c.*536G>A (n.*536G>A)
c.1267G>A (p.Ala423Thr)
c.1330G>A (p.Ala444Thr)
n.263G>A
c.1333G>A (p.Ala445Thr)
c.1261G>A (p.Ala421Thr)
c.1225G>A (p.Ala409Thr)
c.1222G>A (p.Ala408Thr)
c.652G>A (p.Ala218Thr)
n.1772-2604C>T
c.1177G>A (p.Ala393Thr)
c.685G>A (p.Ala229Thr)
2g.27364821T>ACA346197153EIF2B4,GTF3C2-AS2c.1269A>T (p.Leu423Phe)
c.*535A>T (n.*535A>T)
c.1266A>T (p.Leu422Phe)
c.1329A>T (p.Leu443Phe)
n.262A>T
c.1332A>T (p.Leu444Phe)
c.1260A>T (p.Leu420Phe)
c.1224A>T (p.Leu408Phe)
c.1221A>T (p.Leu407Phe)
c.651A>T (p.Leu217Phe)
n.1772-2603T>A
c.1176A>T (p.Leu392Phe)
c.684A>T (p.Leu228Phe)
2g.27364821T>CCA425410285EIF2B4,GTF3C2-AS2c.1269A>G (p.Leu423=)
c.*535A>G (n.*535A>G)
c.1266A>G (p.Leu422=)
c.1329A>G (p.Leu443=)
n.262A>G
c.1332A>G (p.Leu444=)
c.1260A>G (p.Leu420=)
c.1224A>G (p.Leu408=)
c.1221A>G (p.Leu407=)
c.651A>G (p.Leu217=)
n.1772-2603T>C
c.1176A>G (p.Leu392=)
c.684A>G (p.Leu228=)
2g.27364821T>GCA346197154EIF2B4,GTF3C2-AS2c.1269A>C (p.Leu423Phe)
c.*535A>C (n.*535A>C)
c.1266A>C (p.Leu422Phe)
c.1329A>C (p.Leu443Phe)
n.262A>C
c.1332A>C (p.Leu444Phe)
c.1260A>C (p.Leu420Phe)
c.1224A>C (p.Leu408Phe)
c.1221A>C (p.Leu407Phe)
c.651A>C (p.Leu217Phe)
n.1772-2603T>G
c.1176A>C (p.Leu392Phe)
c.684A>C (p.Leu228Phe)
2g.27364822A>CCA346197155EIF2B4,GTF3C2-AS2c.1268T>G (p.Leu423Ter)
c.*534T>G (n.*534T>G)
c.1265T>G (p.Leu422Ter)
c.1328T>G (p.Leu443Ter)
n.261T>G
c.1331T>G (p.Leu444Ter)
c.1259T>G (p.Leu420Ter)
c.1223T>G (p.Leu408Ter)
c.1220T>G (p.Leu407Ter)
c.650T>G (p.Leu217Ter)
n.1772-2602A>C
c.1175T>G (p.Leu392Ter)
c.683T>G (p.Leu228Ter)
2g.27364822A>GCA346197157EIF2B4,GTF3C2-AS2c.1268T>C (p.Leu423Ser)
c.*534T>C (n.*534T>C)
c.1265T>C (p.Leu422Ser)
c.1328T>C (p.Leu443Ser)
n.261T>C
c.1331T>C (p.Leu444Ser)
c.1259T>C (p.Leu420Ser)
c.1223T>C (p.Leu408Ser)
c.1220T>C (p.Leu407Ser)
c.650T>C (p.Leu217Ser)
n.1772-2602A>G
c.1175T>C (p.Leu392Ser)
c.683T>C (p.Leu228Ser)
 gnomAD v4
2g.27364822A>TCA346197159EIF2B4,GTF3C2-AS2c.1268T>A (p.Leu423Ter)
c.*534T>A (n.*534T>A)
c.1265T>A (p.Leu422Ter)
c.1328T>A (p.Leu443Ter)
n.261T>A
c.1331T>A (p.Leu444Ter)
c.1259T>A (p.Leu420Ter)
c.1223T>A (p.Leu408Ter)
c.1220T>A (p.Leu407Ter)
c.650T>A (p.Leu217Ter)
n.1772-2602A>T
c.1175T>A (p.Leu392Ter)
c.683T>A (p.Leu228Ter)
2g.27364823A>CCA346197160EIF2B4,GTF3C2-AS2c.1267T>G (p.Leu423Val)
c.*533T>G (n.*533T>G)
c.1264T>G (p.Leu422Val)
c.1327T>G (p.Leu443Val)
n.260T>G
c.1330T>G (p.Leu444Val)
c.1258T>G (p.Leu420Val)
c.1222T>G (p.Leu408Val)
c.1219T>G (p.Leu407Val)
c.649T>G (p.Leu217Val)
n.1772-2601A>C
c.1174T>G (p.Leu392Val)
c.682T>G (p.Leu228Val)
 COSMIC COSMIC
2g.27364823A>GCA425410291EIF2B4,GTF3C2-AS2c.1267T>C (p.Leu423=)
c.*533T>C (n.*533T>C)
c.1264T>C (p.Leu422=)
c.1327T>C (p.Leu443=)
n.260T>C
c.1330T>C (p.Leu444=)
c.1258T>C (p.Leu420=)
c.1222T>C (p.Leu408=)
c.1219T>C (p.Leu407=)
c.649T>C (p.Leu217=)
n.1772-2601A>G
c.1174T>C (p.Leu392=)
c.682T>C (p.Leu228=)
2g.27364823A>TCA346197162EIF2B4,GTF3C2-AS2c.1267T>A (p.Leu423Ile)
c.*533T>A (n.*533T>A)
c.1264T>A (p.Leu422Ile)
c.1327T>A (p.Leu443Ile)
n.260T>A
c.1330T>A (p.Leu444Ile)
c.1258T>A (p.Leu420Ile)
c.1222T>A (p.Leu408Ile)
c.1219T>A (p.Leu407Ile)
c.649T>A (p.Leu217Ile)
n.1772-2601A>T
c.1174T>A (p.Leu392Ile)
c.682T>A (p.Leu228Ile)
2g.27364824C>ACA346197166EIF2B4,GTF3C2-AS2c.1266G>T (p.Gln422His)
c.*532G>T (n.*532G>T)
c.1263G>T (p.Gln421His)
c.1326G>T (p.Gln442His)
n.259G>T
c.1329G>T (p.Gln443His)
c.1257G>T (p.Gln419His)
c.1221G>T (p.Gln407His)
c.1218G>T (p.Gln406His)
c.648G>T (p.Gln216His)
n.1772-2600C>A
c.1173G>T (p.Gln391His)
c.681G>T (p.Gln227His)
2g.27364824C=CA1240242938EIF2B4,GTF3C2-AS2c.1266G= (p.Gln422=)
c.*532G= (n.*532G=)
c.1263G= (p.Gln421=)
c.1326G= (p.Gln442=)
n.259G=
c.1329G= (p.Gln443=)
c.1257G= (p.Gln419=)
c.1221G= (p.Gln407=)
c.1218G= (p.Gln406=)
c.648G= (p.Gln216=)
n.1772-2600C=
c.1173G= (p.Gln391=)
c.681G= (p.Gln227=)
2g.27364824C>GCA346197164EIF2B4,GTF3C2-AS2c.1266G>C (p.Gln422His)
c.*532G>C (n.*532G>C)
c.1263G>C (p.Gln421His)
c.1326G>C (p.Gln442His)
n.259G>C
c.1329G>C (p.Gln443His)
c.1257G>C (p.Gln419His)
c.1221G>C (p.Gln407His)
c.1218G>C (p.Gln406His)
c.648G>C (p.Gln216His)
n.1772-2600C>G
c.1173G>C (p.Gln391His)
c.681G>C (p.Gln227His)
2g.27364824C>TCA425410293EIF2B4,GTF3C2-AS2c.1266G>A (p.Gln422=)
c.*532G>A (n.*532G>A)
c.1263G>A (p.Gln421=)
c.1326G>A (p.Gln442=)
n.259G>A
c.1329G>A (p.Gln443=)
c.1257G>A (p.Gln419=)
c.1221G>A (p.Gln407=)
c.1218G>A (p.Gln406=)
c.648G>A (p.Gln216=)
n.1772-2600C>T
c.1173G>A (p.Gln391=)
c.681G>A (p.Gln227=)
 dbSNP gnomAD v2 gnomAD v4
2g.27364825T>ACA346197167EIF2B4,GTF3C2-AS2c.1265A>T (p.Gln422Leu)
c.*531A>T (n.*531A>T)
c.1262A>T (p.Gln421Leu)
c.1325A>T (p.Gln442Leu)
n.258A>T
c.1328A>T (p.Gln443Leu)
c.1256A>T (p.Gln419Leu)
c.1220A>T (p.Gln407Leu)
c.1217A>T (p.Gln406Leu)
c.647A>T (p.Gln216Leu)
n.1772-2599T>A
c.1172A>T (p.Gln391Leu)
c.680A>T (p.Gln227Leu)
2g.27364825T>CCA346197168EIF2B4,GTF3C2-AS2c.1265A>G (p.Gln422Arg)
c.*531A>G (n.*531A>G)
c.1262A>G (p.Gln421Arg)
c.1325A>G (p.Gln442Arg)
n.258A>G
c.1328A>G (p.Gln443Arg)
c.1256A>G (p.Gln419Arg)
c.1220A>G (p.Gln407Arg)
c.1217A>G (p.Gln406Arg)
c.647A>G (p.Gln216Arg)
n.1772-2599T>C
c.1172A>G (p.Gln391Arg)
c.680A>G (p.Gln227Arg)
2g.27364825T>GCA346197170EIF2B4,GTF3C2-AS2c.1265A>C (p.Gln422Pro)
c.*531A>C (n.*531A>C)
c.1262A>C (p.Gln421Pro)
c.1325A>C (p.Gln442Pro)
n.258A>C
c.1328A>C (p.Gln443Pro)
c.1256A>C (p.Gln419Pro)
c.1220A>C (p.Gln407Pro)
c.1217A>C (p.Gln406Pro)
c.647A>C (p.Gln216Pro)
n.1772-2599T>G
c.1172A>C (p.Gln391Pro)
c.680A>C (p.Gln227Pro)
2g.27364827_27364828delCA2658336180EIF2B4,GTF3C2-AS2c.1264_1265del (p.Gln422ValfsTer9)
c.*530_*531del (n.*530_*531del)
c.1261_1262del (p.Gln421ValfsTer9)
c.1324_1325del (p.Gln442ValfsTer9)
n.257_258del
c.1327_1328del (p.Gln443ValfsTer9)
c.1255_1256del (p.Gln419ValfsTer9)
c.1219_1220del (p.Gln407ValfsTer9)
c.1216_1217del (p.Gln406ValfsTer9)
c.646_647del (p.Gln216ValfsTer9)
n.1772-2597_1772-2596del
c.1171_1172del (p.Gln391ValfsTer9)
c.679_680del (p.Gln227ValfsTer9)
 gnomAD v4
2g.27364826G>ACA346197172EIF2B4,GTF3C2-AS2c.1264C>T (p.Gln422Ter)
c.*530C>T (n.*530C>T)
c.1261C>T (p.Gln421Ter)
c.1324C>T (p.Gln442Ter)
n.257C>T
c.1327C>T (p.Gln443Ter)
c.1255C>T (p.Gln419Ter)
c.1219C>T (p.Gln407Ter)
c.1216C>T (p.Gln406Ter)
c.646C>T (p.Gln216Ter)
n.1772-2598G>A
c.1171C>T (p.Gln391Ter)
c.679C>T (p.Gln227Ter)
2g.27364826G>CCA346197173EIF2B4,GTF3C2-AS2c.1264C>G (p.Gln422Glu)
c.*530C>G (n.*530C>G)
c.1261C>G (p.Gln421Glu)
c.1324C>G (p.Gln442Glu)
n.257C>G
c.1327C>G (p.Gln443Glu)
c.1255C>G (p.Gln419Glu)
c.1219C>G (p.Gln407Glu)
c.1216C>G (p.Gln406Glu)
c.646C>G (p.Gln216Glu)
n.1772-2598G>C
c.1171C>G (p.Gln391Glu)
c.679C>G (p.Gln227Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.27364826G=CA1240242939EIF2B4,GTF3C2-AS2c.1264C= (p.Gln422=)
c.*530C= (n.*530C=)
c.1261C= (p.Gln421=)
c.1324C= (p.Gln442=)
n.257C=
c.1327C= (p.Gln443=)
c.1255C= (p.Gln419=)
c.1219C= (p.Gln407=)
c.1216C= (p.Gln406=)
c.646C= (p.Gln216=)
n.1772-2598G=
c.1171C= (p.Gln391=)
c.679C= (p.Gln227=)
2g.27364826G>TCA346197174EIF2B4,GTF3C2-AS2c.1264C>A (p.Gln422Lys)
c.*530C>A (n.*530C>A)
c.1261C>A (p.Gln421Lys)
c.1324C>A (p.Gln442Lys)
n.257C>A
c.1327C>A (p.Gln443Lys)
c.1255C>A (p.Gln419Lys)
c.1219C>A (p.Gln407Lys)
c.1216C>A (p.Gln406Lys)
c.646C>A (p.Gln216Lys)
n.1772-2598G>T
c.1171C>A (p.Gln391Lys)
c.679C>A (p.Gln227Lys)
2g.27364827T>ACA425410299EIF2B4,GTF3C2-AS2c.1263A>T (p.Ala421=)
c.*529A>T (n.*529A>T)
c.1260A>T (p.Ala420=)
c.1323A>T (p.Ala441=)
n.256A>T
c.1326A>T (p.Ala442=)
c.1254A>T (p.Ala418=)
c.1218A>T (p.Ala406=)
c.1215A>T (p.Ala405=)
c.645A>T (p.Ala215=)
n.1772-2597T>A
c.1170A>T (p.Ala390=)
c.678A>T (p.Ala226=)
2g.27364827T>CCA425410298EIF2B4,GTF3C2-AS2c.1263A>G (p.Ala421=)
c.*529A>G (n.*529A>G)
c.1260A>G (p.Ala420=)
c.1323A>G (p.Ala441=)
n.256A>G
c.1326A>G (p.Ala442=)
c.1254A>G (p.Ala418=)
c.1218A>G (p.Ala406=)
c.1215A>G (p.Ala405=)
c.645A>G (p.Ala215=)
n.1772-2597T>C
c.1170A>G (p.Ala390=)
c.678A>G (p.Ala226=)
2g.27364827T>GCA425410296EIF2B4,GTF3C2-AS2c.1263A>C (p.Ala421=)
c.*529A>C (n.*529A>C)
c.1260A>C (p.Ala420=)
c.1323A>C (p.Ala441=)
n.256A>C
c.1326A>C (p.Ala442=)
c.1254A>C (p.Ala418=)
c.1218A>C (p.Ala406=)
c.1215A>C (p.Ala405=)
c.645A>C (p.Ala215=)
n.1772-2597T>G
c.1170A>C (p.Ala390=)
c.678A>C (p.Ala226=)
2g.27364828G>ACA346197178EIF2B4,GTF3C2-AS2c.1262C>T (p.Ala421Val)
c.*528C>T (n.*528C>T)
c.1259C>T (p.Ala420Val)
c.1322C>T (p.Ala441Val)
n.255C>T
c.1325C>T (p.Ala442Val)
c.1253C>T (p.Ala418Val)
c.1217C>T (p.Ala406Val)
c.1214C>T (p.Ala405Val)
c.644C>T (p.Ala215Val)
n.1772-2596G>A
c.1169C>T (p.Ala390Val)
c.677C>T (p.Ala226Val)
2g.27364828G>CCA346197177EIF2B4,GTF3C2-AS2c.1262C>G (p.Ala421Gly)
c.*528C>G (n.*528C>G)
c.1259C>G (p.Ala420Gly)
c.1322C>G (p.Ala441Gly)
n.255C>G
c.1325C>G (p.Ala442Gly)
c.1253C>G (p.Ala418Gly)
c.1217C>G (p.Ala406Gly)
c.1214C>G (p.Ala405Gly)
c.644C>G (p.Ala215Gly)
n.1772-2596G>C
c.1169C>G (p.Ala390Gly)
c.677C>G (p.Ala226Gly)
2g.27364828G>TCA346197175EIF2B4,GTF3C2-AS2c.1262C>A (p.Ala421Glu)
c.*528C>A (n.*528C>A)
c.1259C>A (p.Ala420Glu)
c.1322C>A (p.Ala441Glu)
n.255C>A
c.1325C>A (p.Ala442Glu)
c.1253C>A (p.Ala418Glu)
c.1217C>A (p.Ala406Glu)
c.1214C>A (p.Ala405Glu)
c.644C>A (p.Ala215Glu)
n.1772-2596G>T
c.1169C>A (p.Ala390Glu)
c.677C>A (p.Ala226Glu)
2g.27364829C>ACA346197179EIF2B4,GTF3C2-AS2c.1261G>T (p.Ala421Ser)
c.*527G>T (n.*527G>T)
c.1258G>T (p.Ala420Ser)
c.1321G>T (p.Ala441Ser)
n.254G>T
c.1324G>T (p.Ala442Ser)
c.1252G>T (p.Ala418Ser)
c.1216G>T (p.Ala406Ser)
c.1213G>T (p.Ala405Ser)
c.643G>T (p.Ala215Ser)
n.1772-2595C>A
c.1168G>T (p.Ala390Ser)
c.676G>T (p.Ala226Ser)
2g.27364829C>GCA346197180EIF2B4,GTF3C2-AS2c.1261G>C (p.Ala421Pro)
c.*527G>C (n.*527G>C)
c.1258G>C (p.Ala420Pro)
c.1321G>C (p.Ala441Pro)
n.254G>C
c.1324G>C (p.Ala442Pro)
c.1252G>C (p.Ala418Pro)
c.1216G>C (p.Ala406Pro)
c.1213G>C (p.Ala405Pro)
c.643G>C (p.Ala215Pro)
n.1772-2595C>G
c.1168G>C (p.Ala390Pro)
c.676G>C (p.Ala226Pro)
2g.27364829C>TCA346197181EIF2B4,GTF3C2-AS2c.1261G>A (p.Ala421Thr)
c.*527G>A (n.*527G>A)
c.1258G>A (p.Ala420Thr)
c.1321G>A (p.Ala441Thr)
n.254G>A
c.1324G>A (p.Ala442Thr)
c.1252G>A (p.Ala418Thr)
c.1216G>A (p.Ala406Thr)
c.1213G>A (p.Ala405Thr)
c.643G>A (p.Ala215Thr)
n.1772-2595C>T
c.1168G>A (p.Ala390Thr)
c.676G>A (p.Ala226Thr)
2g.27364830T>ACA425410304EIF2B4,GTF3C2-AS2c.1260A>T (p.Thr420=)
c.*526A>T (n.*526A>T)
c.1257A>T (p.Thr419=)
c.1320A>T (p.Thr440=)
n.253A>T
c.1323A>T (p.Thr441=)
c.1251A>T (p.Thr417=)
c.1215A>T (p.Thr405=)
c.1212A>T (p.Thr404=)
c.642A>T (p.Thr214=)
n.1772-2594T>A
c.1167A>T (p.Thr389=)
c.675A>T (p.Thr225=)
 gnomAD v4
2g.27364830T>CCA425410308EIF2B4,GTF3C2-AS2c.1260A>G (p.Thr420=)
c.*526A>G (n.*526A>G)
c.1257A>G (p.Thr419=)
c.1320A>G (p.Thr440=)
n.253A>G
c.1323A>G (p.Thr441=)
c.1251A>G (p.Thr417=)
c.1215A>G (p.Thr405=)
c.1212A>G (p.Thr404=)
c.642A>G (p.Thr214=)
n.1772-2594T>C
c.1167A>G (p.Thr389=)
c.675A>G (p.Thr225=)
2g.27364830T>GCA425410306EIF2B4,GTF3C2-AS2c.1260A>C (p.Thr420=)
c.*526A>C (n.*526A>C)
c.1257A>C (p.Thr419=)
c.1320A>C (p.Thr440=)
n.253A>C
c.1323A>C (p.Thr441=)
c.1251A>C (p.Thr417=)
c.1215A>C (p.Thr405=)
c.1212A>C (p.Thr404=)
c.642A>C (p.Thr214=)
n.1772-2594T>G
c.1167A>C (p.Thr389=)
c.675A>C (p.Thr225=)
 dbSNP gnomAD v2 gnomAD v4
2g.27364830T=CA1240242940EIF2B4,GTF3C2-AS2c.1260A= (p.Thr420=)
c.*526A= (n.*526A=)
c.1257A= (p.Thr419=)
c.1320A= (p.Thr440=)
n.253A=
c.1323A= (p.Thr441=)
c.1251A= (p.Thr417=)
c.1215A= (p.Thr405=)
c.1212A= (p.Thr404=)
c.642A= (p.Thr214=)
n.1772-2594T=
c.1167A= (p.Thr389=)
c.675A= (p.Thr225=)
2g.27364831G>ACA346197182EIF2B4,GTF3C2-AS2c.1259C>T (p.Thr420Ile)
c.*525C>T (n.*525C>T)
c.1256C>T (p.Thr419Ile)
c.1319C>T (p.Thr440Ile)
n.252C>T
c.1322C>T (p.Thr441Ile)
c.1250C>T (p.Thr417Ile)
c.1214C>T (p.Thr405Ile)
c.1211C>T (p.Thr404Ile)
c.641C>T (p.Thr214Ile)
n.1772-2593G>A
c.1166C>T (p.Thr389Ile)
c.674C>T (p.Thr225Ile)
2g.27364831G>CCA346197183EIF2B4,GTF3C2-AS2c.1259C>G (p.Thr420Arg)
c.*525C>G (n.*525C>G)
c.1256C>G (p.Thr419Arg)
c.1319C>G (p.Thr440Arg)
n.252C>G
c.1322C>G (p.Thr441Arg)
c.1250C>G (p.Thr417Arg)
c.1214C>G (p.Thr405Arg)
c.1211C>G (p.Thr404Arg)
c.641C>G (p.Thr214Arg)
n.1772-2593G>C
c.1166C>G (p.Thr389Arg)
c.674C>G (p.Thr225Arg)
2g.27364831G>TCA346197184EIF2B4,GTF3C2-AS2c.1259C>A (p.Thr420Lys)
c.*525C>A (n.*525C>A)
c.1256C>A (p.Thr419Lys)
c.1319C>A (p.Thr440Lys)
n.252C>A
c.1322C>A (p.Thr441Lys)
c.1250C>A (p.Thr417Lys)
c.1214C>A (p.Thr405Lys)
c.1211C>A (p.Thr404Lys)
c.641C>A (p.Thr214Lys)
n.1772-2593G>T
c.1166C>A (p.Thr389Lys)
c.674C>A (p.Thr225Lys)
2g.27364832T>ACA346197185EIF2B4,GTF3C2-AS2c.1258A>T (p.Thr420Ser)
c.*524A>T (n.*524A>T)
c.1255A>T (p.Thr419Ser)
c.1318A>T (p.Thr440Ser)
n.251A>T
c.1321A>T (p.Thr441Ser)
c.1249A>T (p.Thr417Ser)
c.1213A>T (p.Thr405Ser)
c.1210A>T (p.Thr404Ser)
c.640A>T (p.Thr214Ser)
n.1772-2592T>A
c.1165A>T (p.Thr389Ser)
c.673A>T (p.Thr225Ser)
2g.27364832T>CCA346197187EIF2B4,GTF3C2-AS2c.1258A>G (p.Thr420Ala)
c.*524A>G (n.*524A>G)
c.1255A>G (p.Thr419Ala)
c.1318A>G (p.Thr440Ala)
n.251A>G
c.1321A>G (p.Thr441Ala)
c.1249A>G (p.Thr417Ala)
c.1213A>G (p.Thr405Ala)
c.1210A>G (p.Thr404Ala)
c.640A>G (p.Thr214Ala)
n.1772-2592T>C
c.1165A>G (p.Thr389Ala)
c.673A>G (p.Thr225Ala)
2g.27364832T>GCA346197186EIF2B4,GTF3C2-AS2c.1258A>C (p.Thr420Pro)
c.*524A>C (n.*524A>C)
c.1255A>C (p.Thr419Pro)
c.1318A>C (p.Thr440Pro)
n.251A>C
c.1321A>C (p.Thr441Pro)
c.1249A>C (p.Thr417Pro)
c.1213A>C (p.Thr405Pro)
c.1210A>C (p.Thr404Pro)
c.640A>C (p.Thr214Pro)
n.1772-2592T>G
c.1165A>C (p.Thr389Pro)
c.673A>C (p.Thr225Pro)
2g.27364833C>ACA425410310EIF2B4,GTF3C2-AS2c.1257G>T (p.Gly419=)
c.*523G>T (n.*523G>T)
c.1254G>T (p.Gly418=)
c.1317G>T (p.Gly439=)
n.250G>T
c.1320G>T (p.Gly440=)
c.1248G>T (p.Gly416=)
c.1212G>T (p.Gly404=)
c.1209G>T (p.Gly403=)
c.639G>T (p.Gly213=)
n.1772-2591C>A
c.1164G>T (p.Gly388=)
c.672G>T (p.Gly224=)
2g.27364833C=CA1240242941EIF2B4,GTF3C2-AS2c.1257G= (p.Gly419=)
c.*523G= (n.*523G=)
c.1254G= (p.Gly418=)
c.1317G= (p.Gly439=)
n.250G=
c.1320G= (p.Gly440=)
c.1248G= (p.Gly416=)
c.1212G= (p.Gly404=)
c.1209G= (p.Gly403=)
c.639G= (p.Gly213=)
n.1772-2591C=
c.1164G= (p.Gly388=)
c.672G= (p.Gly224=)
2g.27364833C>GCA425410314EIF2B4,GTF3C2-AS2c.1257G>C (p.Gly419=)
c.*523G>C (n.*523G>C)
c.1254G>C (p.Gly418=)
c.1317G>C (p.Gly439=)
n.250G>C
c.1320G>C (p.Gly440=)
c.1248G>C (p.Gly416=)
c.1212G>C (p.Gly404=)
c.1209G>C (p.Gly403=)
c.639G>C (p.Gly213=)
n.1772-2591C>G
c.1164G>C (p.Gly388=)
c.672G>C (p.Gly224=)
2g.27364833C>TCA425410316EIF2B4,GTF3C2-AS2c.1257G>A (p.Gly419=)
c.*523G>A (n.*523G>A)
c.1254G>A (p.Gly418=)
c.1317G>A (p.Gly439=)
n.250G>A
c.1320G>A (p.Gly440=)
c.1248G>A (p.Gly416=)
c.1212G>A (p.Gly404=)
c.1209G>A (p.Gly403=)
c.639G>A (p.Gly213=)
n.1772-2591C>T
c.1164G>A (p.Gly388=)
c.672G>A (p.Gly224=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.27364834C>ACA346197189EIF2B4,GTF3C2-AS2c.1256G>T (p.Gly419Val)
c.*522G>T (n.*522G>T)
c.1253G>T (p.Gly418Val)
c.1316G>T (p.Gly439Val)
n.249G>T
c.1319G>T (p.Gly440Val)
c.1247G>T (p.Gly416Val)
c.1211G>T (p.Gly404Val)
c.1208G>T (p.Gly403Val)
c.638G>T (p.Gly213Val)
n.1772-2590C>A
c.1163G>T (p.Gly388Val)
c.671G>T (p.Gly224Val)
2g.27364834C>GCA346197190EIF2B4,GTF3C2-AS2c.1256G>C (p.Gly419Ala)
c.*522G>C (n.*522G>C)
c.1253G>C (p.Gly418Ala)
c.1316G>C (p.Gly439Ala)
n.249G>C
c.1319G>C (p.Gly440Ala)
c.1247G>C (p.Gly416Ala)
c.1211G>C (p.Gly404Ala)
c.1208G>C (p.Gly403Ala)
c.638G>C (p.Gly213Ala)
n.1772-2590C>G
c.1163G>C (p.Gly388Ala)
c.671G>C (p.Gly224Ala)
2g.27364834C>TCA346197191EIF2B4,GTF3C2-AS2c.1256G>A (p.Gly419Glu)
c.*522G>A (n.*522G>A)
c.1253G>A (p.Gly418Glu)
c.1316G>A (p.Gly439Glu)
n.249G>A
c.1319G>A (p.Gly440Glu)
c.1247G>A (p.Gly416Glu)
c.1211G>A (p.Gly404Glu)
c.1208G>A (p.Gly403Glu)
c.638G>A (p.Gly213Glu)
n.1772-2590C>T
c.1163G>A (p.Gly388Glu)
c.671G>A (p.Gly224Glu)
2g.27364835C>ACA346197193EIF2B4,GTF3C2-AS2c.1255G>T (p.Gly419Trp)
c.*521G>T (n.*521G>T)
c.1252G>T (p.Gly418Trp)
c.1315G>T (p.Gly439Trp)
n.248G>T
c.1318G>T (p.Gly440Trp)
c.1246G>T (p.Gly416Trp)
c.1210G>T (p.Gly404Trp)
c.1207G>T (p.Gly403Trp)
c.637G>T (p.Gly213Trp)
n.1772-2589C>A
c.1162G>T (p.Gly388Trp)
c.670G>T (p.Gly224Trp)
2g.27364835C>GCA346197194EIF2B4,GTF3C2-AS2c.1255G>C (p.Gly419Arg)
c.*521G>C (n.*521G>C)
c.1252G>C (p.Gly418Arg)
c.1315G>C (p.Gly439Arg)
n.248G>C
c.1318G>C (p.Gly440Arg)
c.1246G>C (p.Gly416Arg)
c.1210G>C (p.Gly404Arg)
c.1207G>C (p.Gly403Arg)
c.637G>C (p.Gly213Arg)
n.1772-2589C>G
c.1162G>C (p.Gly388Arg)
c.670G>C (p.Gly224Arg)
2g.27364835C>TCA346197196EIF2B4,GTF3C2-AS2c.1255G>A (p.Gly419Arg)
c.*521G>A (n.*521G>A)
c.1252G>A (p.Gly418Arg)
c.1315G>A (p.Gly439Arg)
n.248G>A
c.1318G>A (p.Gly440Arg)
c.1246G>A (p.Gly416Arg)
c.1210G>A (p.Gly404Arg)
c.1207G>A (p.Gly403Arg)
c.637G>A (p.Gly213Arg)
n.1772-2589C>T
c.1162G>A (p.Gly388Arg)
c.670G>A (p.Gly224Arg)
 gnomAD v4
2g.27364836T>ACA425410320EIF2B4,GTF3C2-AS2c.1254A>T (p.Val418=)
c.*520A>T (n.*520A>T)
c.1251A>T (p.Val417=)
c.1314A>T (p.Val438=)
n.247A>T
c.1317A>T (p.Val439=)
c.1245A>T (p.Val415=)
c.1209A>T (p.Val403=)
c.1206A>T (p.Val402=)
c.636A>T (p.Val212=)
n.1772-2588T>A
c.1161A>T (p.Val387=)
c.669A>T (p.Val223=)
2g.27364836T>CCA425410322EIF2B4,GTF3C2-AS2c.1254A>G (p.Val418=)
c.*520A>G (n.*520A>G)
c.1251A>G (p.Val417=)
c.1314A>G (p.Val438=)
n.247A>G
c.1317A>G (p.Val439=)
c.1245A>G (p.Val415=)
c.1209A>G (p.Val403=)
c.1206A>G (p.Val402=)
c.636A>G (p.Val212=)
n.1772-2588T>C
c.1161A>G (p.Val387=)
c.669A>G (p.Val223=)
2g.27364836T>GCA425410323EIF2B4,GTF3C2-AS2c.1254A>C (p.Val418=)
c.*520A>C (n.*520A>C)
c.1251A>C (p.Val417=)
c.1314A>C (p.Val438=)
n.247A>C
c.1317A>C (p.Val439=)
c.1245A>C (p.Val415=)
c.1209A>C (p.Val403=)
c.1206A>C (p.Val402=)
c.636A>C (p.Val212=)
n.1772-2588T>G
c.1161A>C (p.Val387=)
c.669A>C (p.Val223=)
2g.27364837A=CA1240242942EIF2B4,GTF3C2-AS2c.1253T= (p.Val418=)
c.*519T= (n.*519T=)
c.1250T= (p.Val417=)
c.1313T= (p.Val438=)
n.246T=
c.1316T= (p.Val439=)
c.1244T= (p.Val415=)
c.1208T= (p.Val403=)
c.1205T= (p.Val402=)
c.635T= (p.Val212=)
n.1772-2587A=
c.1160T= (p.Val387=)
c.668T= (p.Val223=)
2g.27364837A>CCA346197198EIF2B4,GTF3C2-AS2c.1253T>G (p.Val418Gly)
c.*519T>G (n.*519T>G)
c.1250T>G (p.Val417Gly)
c.1313T>G (p.Val438Gly)
n.246T>G
c.1316T>G (p.Val439Gly)
c.1244T>G (p.Val415Gly)
c.1208T>G (p.Val403Gly)
c.1205T>G (p.Val402Gly)
c.635T>G (p.Val212Gly)
n.1772-2587A>C
c.1160T>G (p.Val387Gly)
c.668T>G (p.Val223Gly)
2g.27364837A>GCA346197199EIF2B4,GTF3C2-AS2c.1253T>C (p.Val418Ala)
c.*519T>C (n.*519T>C)
c.1250T>C (p.Val417Ala)
c.1313T>C (p.Val438Ala)
n.246T>C
c.1316T>C (p.Val439Ala)
c.1244T>C (p.Val415Ala)
c.1208T>C (p.Val403Ala)
c.1205T>C (p.Val402Ala)
c.635T>C (p.Val212Ala)
n.1772-2587A>G
c.1160T>C (p.Val387Ala)
c.668T>C (p.Val223Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.27364837A>TCA346197201EIF2B4,GTF3C2-AS2c.1253T>A (p.Val418Glu)
c.*519T>A (n.*519T>A)
c.1250T>A (p.Val417Glu)
c.1313T>A (p.Val438Glu)
n.246T>A
c.1316T>A (p.Val439Glu)
c.1244T>A (p.Val415Glu)
c.1208T>A (p.Val403Glu)
c.1205T>A (p.Val402Glu)
c.635T>A (p.Val212Glu)
n.1772-2587A>T
c.1160T>A (p.Val387Glu)
c.668T>A (p.Val223Glu)

Number of alleles fetched