Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27364479T>ACA346196565EIF2B4,GTF3C2-AS2c.1493A>T (p.Asp498Val)
c.*759A>T (n.*759A>T)
c.1490A>T (p.Asp497Val)
c.1553A>T (p.Asp518Val)
n.486A>T
c.1556A>T (p.Asp519Val)
c.1484A>T (p.Asp495Val)
c.1448A>T (p.Asp483Val)
c.1445A>T (p.Asp482Val)
c.875A>T (p.Asp292Val)
n.1772-2945T>A
c.1400A>T (p.Asp467Val)
c.908A>T (p.Asp303Val)
2g.27364479T>CCA346196566EIF2B4,GTF3C2-AS2c.1493A>G (p.Asp498Gly)
c.*759A>G (n.*759A>G)
c.1490A>G (p.Asp497Gly)
c.1553A>G (p.Asp518Gly)
n.486A>G
c.1556A>G (p.Asp519Gly)
c.1484A>G (p.Asp495Gly)
c.1448A>G (p.Asp483Gly)
c.1445A>G (p.Asp482Gly)
c.875A>G (p.Asp292Gly)
n.1772-2945T>C
c.1400A>G (p.Asp467Gly)
c.908A>G (p.Asp303Gly)
2g.27364479T>GCA346196567EIF2B4,GTF3C2-AS2c.1493A>C (p.Asp498Ala)
c.*759A>C (n.*759A>C)
c.1490A>C (p.Asp497Ala)
c.1553A>C (p.Asp518Ala)
n.486A>C
c.1556A>C (p.Asp519Ala)
c.1484A>C (p.Asp495Ala)
c.1448A>C (p.Asp483Ala)
c.1445A>C (p.Asp482Ala)
c.875A>C (p.Asp292Ala)
n.1772-2945T>G
c.1400A>C (p.Asp467Ala)
c.908A>C (p.Asp303Ala)
2g.27364479_27364480delinsTCCA1240242792EIF2B4,GTF3C2-AS2c.1492_1493delinsGA (p.Asp498=)
c.*758_*759delinsGA (n.*758_*759delinsGA)
c.1489_1490delinsGA (p.Asp497=)
c.1552_1553delinsGA (p.Asp518=)
n.485_486delinsGA
c.1555_1556delinsGA (p.Asp519=)
c.1483_1484delinsGA (p.Asp495=)
c.1447_1448delinsGA (p.Asp483=)
c.1444_1445delinsGA (p.Asp482=)
c.874_875delinsGA (p.Asp292=)
n.1772-2945_1772-2944delinsTC
c.1399_1400delinsGA (p.Asp467=)
c.907_908delinsGA (p.Asp303=)
2g.27364480C>ACA346196568EIF2B4,GTF3C2-AS2c.1492G>T (p.Asp498Tyr)
c.*758G>T (n.*758G>T)
c.1489G>T (p.Asp497Tyr)
c.1552G>T (p.Asp518Tyr)
n.485G>T
c.1555G>T (p.Asp519Tyr)
c.1483G>T (p.Asp495Tyr)
c.1447G>T (p.Asp483Tyr)
c.1444G>T (p.Asp482Tyr)
c.874G>T (p.Asp292Tyr)
n.1772-2944C>A
c.1399G>T (p.Asp467Tyr)
c.907G>T (p.Asp303Tyr)
2g.27364480C=CA1240242793EIF2B4,GTF3C2-AS2c.1492G= (p.Asp498=)
c.*758G= (n.*758G=)
c.1489G= (p.Asp497=)
c.1552G= (p.Asp518=)
n.485G=
c.1555G= (p.Asp519=)
c.1483G= (p.Asp495=)
c.1447G= (p.Asp483=)
c.1444G= (p.Asp482=)
c.874G= (p.Asp292=)
n.1772-2944C=
c.1399G= (p.Asp467=)
c.907G= (p.Asp303=)
2g.27364480C>GCA346196569EIF2B4,GTF3C2-AS2c.1492G>C (p.Asp498His)
c.*758G>C (n.*758G>C)
c.1489G>C (p.Asp497His)
c.1552G>C (p.Asp518His)
n.485G>C
c.1555G>C (p.Asp519His)
c.1483G>C (p.Asp495His)
c.1447G>C (p.Asp483His)
c.1444G>C (p.Asp482His)
c.874G>C (p.Asp292His)
n.1772-2944C>G
c.1399G>C (p.Asp467His)
c.907G>C (p.Asp303His)
2g.27364480C>TCA346196570EIF2B4,GTF3C2-AS2c.1492G>A (p.Asp498Asn)
c.*758G>A (n.*758G>A)
c.1489G>A (p.Asp497Asn)
c.1552G>A (p.Asp518Asn)
n.485G>A
c.1555G>A (p.Asp519Asn)
c.1483G>A (p.Asp495Asn)
c.1447G>A (p.Asp483Asn)
c.1444G>A (p.Asp482Asn)
c.874G>A (p.Asp292Asn)
n.1772-2944C>T
c.1399G>A (p.Asp467Asn)
c.907G>A (p.Asp303Asn)
 dbSNP gnomAD v2
2g.27364481delCA531764803EIF2B4,GTF3C2-AS2c.1492del (p.Asp498IlefsTer3)
c.*758del (n.*758del)
c.1489del (p.Asp497IlefsTer3)
c.1552del (p.Asp518IlefsTer3)
n.485del
c.1555del (p.Asp519IlefsTer3)
c.1483del (p.Asp495IlefsTer3)
c.1447del (p.Asp483IlefsTer3)
c.1444del (p.Asp482IlefsTer3)
c.874del (p.Asp292IlefsTer3)
n.1772-2943del
c.1399del (p.Asp467IlefsTer3)
c.907del (p.Asp303IlefsTer3)
 dbSNP gnomAD v2 gnomAD v4
2g.27364481C>ACA425409753EIF2B4,GTF3C2-AS2c.1491G>T (p.Val497=)
c.*757G>T (n.*757G>T)
c.1488G>T (p.Val496=)
c.1551G>T (p.Val517=)
n.484G>T
c.1554G>T (p.Val518=)
c.1482G>T (p.Val494=)
c.1446G>T (p.Val482=)
c.1443G>T (p.Val481=)
c.873G>T (p.Val291=)
n.1772-2943C>A
c.1398G>T (p.Val466=)
c.906G>T (p.Val302=)
2g.27364481C>GCA425409752EIF2B4,GTF3C2-AS2c.1491G>C (p.Val497=)
c.*757G>C (n.*757G>C)
c.1488G>C (p.Val496=)
c.1551G>C (p.Val517=)
n.484G>C
c.1554G>C (p.Val518=)
c.1482G>C (p.Val494=)
c.1446G>C (p.Val482=)
c.1443G>C (p.Val481=)
c.873G>C (p.Val291=)
n.1772-2943C>G
c.1398G>C (p.Val466=)
c.906G>C (p.Val302=)
2g.27364481C>TCA425409751EIF2B4,GTF3C2-AS2c.1491G>A (p.Val497=)
c.*757G>A (n.*757G>A)
c.1488G>A (p.Val496=)
c.1551G>A (p.Val517=)
n.484G>A
c.1554G>A (p.Val518=)
c.1482G>A (p.Val494=)
c.1446G>A (p.Val482=)
c.1443G>A (p.Val481=)
c.873G>A (p.Val291=)
n.1772-2943C>T
c.1398G>A (p.Val466=)
c.906G>A (p.Val302=)
 ClinVar gnomAD v4
2g.27364482A>CCA346196571EIF2B4,GTF3C2-AS2c.1490T>G (p.Val497Gly)
c.*756T>G (n.*756T>G)
c.1487T>G (p.Val496Gly)
c.1550T>G (p.Val517Gly)
n.483T>G
c.1553T>G (p.Val518Gly)
c.1481T>G (p.Val494Gly)
c.1445T>G (p.Val482Gly)
c.1442T>G (p.Val481Gly)
c.872T>G (p.Val291Gly)
n.1772-2942A>C
c.1397T>G (p.Val466Gly)
c.905T>G (p.Val302Gly)
2g.27364482A>GCA346196572EIF2B4,GTF3C2-AS2c.1490T>C (p.Val497Ala)
c.*756T>C (n.*756T>C)
c.1487T>C (p.Val496Ala)
c.1550T>C (p.Val517Ala)
n.483T>C
c.1553T>C (p.Val518Ala)
c.1481T>C (p.Val494Ala)
c.1445T>C (p.Val482Ala)
c.1442T>C (p.Val481Ala)
c.872T>C (p.Val291Ala)
n.1772-2942A>G
c.1397T>C (p.Val466Ala)
c.905T>C (p.Val302Ala)
2g.27364482A>TCA346196573EIF2B4,GTF3C2-AS2c.1490T>A (p.Val497Glu)
c.*756T>A (n.*756T>A)
c.1487T>A (p.Val496Glu)
c.1550T>A (p.Val517Glu)
n.483T>A
c.1553T>A (p.Val518Glu)
c.1481T>A (p.Val494Glu)
c.1445T>A (p.Val482Glu)
c.1442T>A (p.Val481Glu)
c.872T>A (p.Val291Glu)
n.1772-2942A>T
c.1397T>A (p.Val466Glu)
c.905T>A (p.Val302Glu)
 dbSNP
2g.27364483C>ACA346196574EIF2B4,GTF3C2-AS2c.1489G>T (p.Val497Leu)
c.*755G>T (n.*755G>T)
c.1486G>T (p.Val496Leu)
c.1549G>T (p.Val517Leu)
n.482G>T
c.1552G>T (p.Val518Leu)
c.1480G>T (p.Val494Leu)
c.1444G>T (p.Val482Leu)
c.1441G>T (p.Val481Leu)
c.871G>T (p.Val291Leu)
n.1772-2941C>A
c.1396G>T (p.Val466Leu)
c.904G>T (p.Val302Leu)
2g.27364483C=CA1240242794EIF2B4,GTF3C2-AS2c.1489G= (p.Val497=)
c.*755G= (n.*755G=)
c.1486G= (p.Val496=)
c.1549G= (p.Val517=)
n.482G=
c.1552G= (p.Val518=)
c.1480G= (p.Val494=)
c.1444G= (p.Val482=)
c.1441G= (p.Val481=)
c.871G= (p.Val291=)
n.1772-2941C=
c.1396G= (p.Val466=)
c.904G= (p.Val302=)
2g.27364483C>GCA346196575EIF2B4,GTF3C2-AS2c.1489G>C (p.Val497Leu)
c.*755G>C (n.*755G>C)
c.1486G>C (p.Val496Leu)
c.1549G>C (p.Val517Leu)
n.482G>C
c.1552G>C (p.Val518Leu)
c.1480G>C (p.Val494Leu)
c.1444G>C (p.Val482Leu)
c.1441G>C (p.Val481Leu)
c.871G>C (p.Val291Leu)
n.1772-2941C>G
c.1396G>C (p.Val466Leu)
c.904G>C (p.Val302Leu)
2g.27364483C>TCA1576560EIF2B4,GTF3C2-AS2c.1489G>A (p.Val497Met)
c.*755G>A (n.*755G>A)
c.1486G>A (p.Val496Met)
c.1549G>A (p.Val517Met)
n.482G>A
c.1552G>A (p.Val518Met)
c.1480G>A (p.Val494Met)
c.1444G>A (p.Val482Met)
c.1441G>A (p.Val481Met)
c.871G>A (p.Val291Met)
n.1772-2941C>T
c.1396G>A (p.Val466Met)
c.904G>A (p.Val302Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364484A=CA1240242795EIF2B4,GTF3C2-AS2c.1488T= (p.Leu496=)
c.*754T= (n.*754T=)
c.1485T= (p.Leu495=)
c.1548T= (p.Leu516=)
n.481T=
c.1551T= (p.Leu517=)
c.1479T= (p.Leu493=)
c.1443T= (p.Leu481=)
c.1440T= (p.Leu480=)
c.870T= (p.Leu290=)
n.1772-2940A=
c.1395T= (p.Leu465=)
c.903T= (p.Leu301=)
2g.27364484A>CCA425409756EIF2B4,GTF3C2-AS2c.1488T>G (p.Leu496=)
c.*754T>G (n.*754T>G)
c.1485T>G (p.Leu495=)
c.1548T>G (p.Leu516=)
n.481T>G
c.1551T>G (p.Leu517=)
c.1479T>G (p.Leu493=)
c.1443T>G (p.Leu481=)
c.1440T>G (p.Leu480=)
c.870T>G (p.Leu290=)
n.1772-2940A>C
c.1395T>G (p.Leu465=)
c.903T>G (p.Leu301=)
2g.27364484A>GCA425409755EIF2B4,GTF3C2-AS2c.1488T>C (p.Leu496=)
c.*754T>C (n.*754T>C)
c.1485T>C (p.Leu495=)
c.1548T>C (p.Leu516=)
n.481T>C
c.1551T>C (p.Leu517=)
c.1479T>C (p.Leu493=)
c.1443T>C (p.Leu481=)
c.1440T>C (p.Leu480=)
c.870T>C (p.Leu290=)
n.1772-2940A>G
c.1395T>C (p.Leu465=)
c.903T>C (p.Leu301=)
 ClinVar dbSNP
2g.27364484A>TCA425409754EIF2B4,GTF3C2-AS2c.1488T>A (p.Leu496=)
c.*754T>A (n.*754T>A)
c.1485T>A (p.Leu495=)
c.1548T>A (p.Leu516=)
n.481T>A
c.1551T>A (p.Leu517=)
c.1479T>A (p.Leu493=)
c.1443T>A (p.Leu481=)
c.1440T>A (p.Leu480=)
c.870T>A (p.Leu290=)
n.1772-2940A>T
c.1395T>A (p.Leu465=)
c.903T>A (p.Leu301=)
2g.27364485A>CCA346196578EIF2B4,GTF3C2-AS2c.1487T>G (p.Leu496Arg)
c.*753T>G (n.*753T>G)
c.1484T>G (p.Leu495Arg)
c.1547T>G (p.Leu516Arg)
n.480T>G
c.1550T>G (p.Leu517Arg)
c.1478T>G (p.Leu493Arg)
c.1442T>G (p.Leu481Arg)
c.1439T>G (p.Leu480Arg)
c.869T>G (p.Leu290Arg)
n.1772-2939A>C
c.1394T>G (p.Leu465Arg)
c.902T>G (p.Leu301Arg)
2g.27364485A>GCA346196576EIF2B4,GTF3C2-AS2c.1487T>C (p.Leu496Pro)
c.*753T>C (n.*753T>C)
c.1484T>C (p.Leu495Pro)
c.1547T>C (p.Leu516Pro)
n.480T>C
c.1550T>C (p.Leu517Pro)
c.1478T>C (p.Leu493Pro)
c.1442T>C (p.Leu481Pro)
c.1439T>C (p.Leu480Pro)
c.869T>C (p.Leu290Pro)
n.1772-2939A>G
c.1394T>C (p.Leu465Pro)
c.902T>C (p.Leu301Pro)
2g.27364485A>TCA346196577EIF2B4,GTF3C2-AS2c.1487T>A (p.Leu496His)
c.*753T>A (n.*753T>A)
c.1484T>A (p.Leu495His)
c.1547T>A (p.Leu516His)
n.480T>A
c.1550T>A (p.Leu517His)
c.1478T>A (p.Leu493His)
c.1442T>A (p.Leu481His)
c.1439T>A (p.Leu480His)
c.869T>A (p.Leu290His)
n.1772-2939A>T
c.1394T>A (p.Leu465His)
c.902T>A (p.Leu301His)
2g.27364486G>ACA346196579EIF2B4,GTF3C2-AS2c.1486C>T (p.Leu496Phe)
c.*752C>T (n.*752C>T)
c.1483C>T (p.Leu495Phe)
c.1546C>T (p.Leu516Phe)
n.479C>T
c.1549C>T (p.Leu517Phe)
c.1477C>T (p.Leu493Phe)
c.1441C>T (p.Leu481Phe)
c.1438C>T (p.Leu480Phe)
c.868C>T (p.Leu290Phe)
n.1772-2938G>A
c.1393C>T (p.Leu465Phe)
c.901C>T (p.Leu301Phe)
2g.27364486G>CCA346196580EIF2B4,GTF3C2-AS2c.1486C>G (p.Leu496Val)
c.*752C>G (n.*752C>G)
c.1483C>G (p.Leu495Val)
c.1546C>G (p.Leu516Val)
n.479C>G
c.1549C>G (p.Leu517Val)
c.1477C>G (p.Leu493Val)
c.1441C>G (p.Leu481Val)
c.1438C>G (p.Leu480Val)
c.868C>G (p.Leu290Val)
n.1772-2938G>C
c.1393C>G (p.Leu465Val)
c.901C>G (p.Leu301Val)
2g.27364486G>TCA346196581EIF2B4,GTF3C2-AS2c.1486C>A (p.Leu496Ile)
c.*752C>A (n.*752C>A)
c.1483C>A (p.Leu495Ile)
c.1546C>A (p.Leu516Ile)
n.479C>A
c.1549C>A (p.Leu517Ile)
c.1477C>A (p.Leu493Ile)
c.1441C>A (p.Leu481Ile)
c.1438C>A (p.Leu480Ile)
c.868C>A (p.Leu290Ile)
n.1772-2938G>T
c.1393C>A (p.Leu465Ile)
c.901C>A (p.Leu301Ile)
 gnomAD v4
2g.27364487C>ACA346196582EIF2B4,GTF3C2-AS2c.1485G>T (p.Glu495Asp)
c.*751G>T (n.*751G>T)
c.1482G>T (p.Glu494Asp)
c.1545G>T (p.Glu515Asp)
n.478G>T
c.1548G>T (p.Glu516Asp)
c.1476G>T (p.Glu492Asp)
c.1440G>T (p.Glu480Asp)
c.1437G>T (p.Glu479Asp)
c.867G>T (p.Glu289Asp)
n.1772-2937C>A
c.1392G>T (p.Glu464Asp)
c.900G>T (p.Glu300Asp)
2g.27364487C>GCA346196583EIF2B4,GTF3C2-AS2c.1485G>C (p.Glu495Asp)
c.*751G>C (n.*751G>C)
c.1482G>C (p.Glu494Asp)
c.1545G>C (p.Glu515Asp)
n.478G>C
c.1548G>C (p.Glu516Asp)
c.1476G>C (p.Glu492Asp)
c.1440G>C (p.Glu480Asp)
c.1437G>C (p.Glu479Asp)
c.867G>C (p.Glu289Asp)
n.1772-2937C>G
c.1392G>C (p.Glu464Asp)
c.900G>C (p.Glu300Asp)
2g.27364487C>TCA425409757EIF2B4,GTF3C2-AS2c.1485G>A (p.Glu495=)
c.*751G>A (n.*751G>A)
c.1482G>A (p.Glu494=)
c.1545G>A (p.Glu515=)
n.478G>A
c.1548G>A (p.Glu516=)
c.1476G>A (p.Glu492=)
c.1440G>A (p.Glu480=)
c.1437G>A (p.Glu479=)
c.867G>A (p.Glu289=)
n.1772-2937C>T
c.1392G>A (p.Glu464=)
c.900G>A (p.Glu300=)
2g.27364488T>ACA346196584EIF2B4,GTF3C2-AS2c.1484A>T (p.Glu495Val)
c.*750A>T (n.*750A>T)
c.1481A>T (p.Glu494Val)
c.1544A>T (p.Glu515Val)
n.477A>T
c.1547A>T (p.Glu516Val)
c.1475A>T (p.Glu492Val)
c.1439A>T (p.Glu480Val)
c.1436A>T (p.Glu479Val)
c.866A>T (p.Glu289Val)
n.1772-2936T>A
c.1391A>T (p.Glu464Val)
c.899A>T (p.Glu300Val)
2g.27364488T>CCA346196585EIF2B4,GTF3C2-AS2c.1484A>G (p.Glu495Gly)
c.*750A>G (n.*750A>G)
c.1481A>G (p.Glu494Gly)
c.1544A>G (p.Glu515Gly)
n.477A>G
c.1547A>G (p.Glu516Gly)
c.1475A>G (p.Glu492Gly)
c.1439A>G (p.Glu480Gly)
c.1436A>G (p.Glu479Gly)
c.866A>G (p.Glu289Gly)
n.1772-2936T>C
c.1391A>G (p.Glu464Gly)
c.899A>G (p.Glu300Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.27364488T>GCA346196586EIF2B4,GTF3C2-AS2c.1484A>C (p.Glu495Ala)
c.*750A>C (n.*750A>C)
c.1481A>C (p.Glu494Ala)
c.1544A>C (p.Glu515Ala)
n.477A>C
c.1547A>C (p.Glu516Ala)
c.1475A>C (p.Glu492Ala)
c.1439A>C (p.Glu480Ala)
c.1436A>C (p.Glu479Ala)
c.866A>C (p.Glu289Ala)
n.1772-2936T>G
c.1391A>C (p.Glu464Ala)
c.899A>C (p.Glu300Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.27364488T=CA1240242796EIF2B4,GTF3C2-AS2c.1484A= (p.Glu495=)
c.*750A= (n.*750A=)
c.1481A= (p.Glu494=)
c.1544A= (p.Glu515=)
n.477A=
c.1547A= (p.Glu516=)
c.1475A= (p.Glu492=)
c.1439A= (p.Glu480=)
c.1436A= (p.Glu479=)
c.866A= (p.Glu289=)
n.1772-2936T=
c.1391A= (p.Glu464=)
c.899A= (p.Glu300=)
2g.27364489C>ACA346196587EIF2B4,GTF3C2-AS2c.1483G>T (p.Glu495Ter)
c.*749G>T (n.*749G>T)
c.1480G>T (p.Glu494Ter)
c.1543G>T (p.Glu515Ter)
n.476G>T
c.1546G>T (p.Glu516Ter)
c.1474G>T (p.Glu492Ter)
c.1438G>T (p.Glu480Ter)
c.1435G>T (p.Glu479Ter)
c.865G>T (p.Glu289Ter)
n.1772-2935C>A
c.1390G>T (p.Glu464Ter)
c.898G>T (p.Glu300Ter)
2g.27364489C=CA1240242797EIF2B4,GTF3C2-AS2c.1483G= (p.Glu495=)
c.*749G= (n.*749G=)
c.1480G= (p.Glu494=)
c.1543G= (p.Glu515=)
n.476G=
c.1546G= (p.Glu516=)
c.1474G= (p.Glu492=)
c.1438G= (p.Glu480=)
c.1435G= (p.Glu479=)
c.865G= (p.Glu289=)
n.1772-2935C=
c.1390G= (p.Glu464=)
c.898G= (p.Glu300=)
2g.27364489C>GCA1576561EIF2B4,GTF3C2-AS2c.1483G>C (p.Glu495Gln)
c.*749G>C (n.*749G>C)
c.1480G>C (p.Glu494Gln)
c.1543G>C (p.Glu515Gln)
n.476G>C
c.1546G>C (p.Glu516Gln)
c.1474G>C (p.Glu492Gln)
c.1438G>C (p.Glu480Gln)
c.1435G>C (p.Glu479Gln)
c.865G>C (p.Glu289Gln)
n.1772-2935C>G
c.1390G>C (p.Glu464Gln)
c.898G>C (p.Glu300Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364489C>TCA346196588EIF2B4,GTF3C2-AS2c.1483G>A (p.Glu495Lys)
c.*749G>A (n.*749G>A)
c.1480G>A (p.Glu494Lys)
c.1543G>A (p.Glu515Lys)
n.476G>A
c.1546G>A (p.Glu516Lys)
c.1474G>A (p.Glu492Lys)
c.1438G>A (p.Glu480Lys)
c.1435G>A (p.Glu479Lys)
c.865G>A (p.Glu289Lys)
n.1772-2935C>T
c.1390G>A (p.Glu464Lys)
c.898G>A (p.Glu300Lys)
2g.27364490T>ACA425409758EIF2B4,GTF3C2-AS2c.1482A>T (p.Pro494=)
c.*748A>T (n.*748A>T)
c.1479A>T (p.Pro493=)
c.1542A>T (p.Pro514=)
n.475A>T
c.1545A>T (p.Pro515=)
c.1473A>T (p.Pro491=)
c.1437A>T (p.Pro479=)
c.1434A>T (p.Pro478=)
c.864A>T (p.Pro288=)
n.1772-2934T>A
c.1389A>T (p.Pro463=)
c.897A>T (p.Pro299=)
2g.27364490T>CCA425409759EIF2B4,GTF3C2-AS2c.1482A>G (p.Pro494=)
c.*748A>G (n.*748A>G)
c.1479A>G (p.Pro493=)
c.1542A>G (p.Pro514=)
n.475A>G
c.1545A>G (p.Pro515=)
c.1473A>G (p.Pro491=)
c.1437A>G (p.Pro479=)
c.1434A>G (p.Pro478=)
c.864A>G (p.Pro288=)
n.1772-2934T>C
c.1389A>G (p.Pro463=)
c.897A>G (p.Pro299=)
2g.27364490T>GCA425409760EIF2B4,GTF3C2-AS2c.1482A>C (p.Pro494=)
c.*748A>C (n.*748A>C)
c.1479A>C (p.Pro493=)
c.1542A>C (p.Pro514=)
n.475A>C
c.1545A>C (p.Pro515=)
c.1473A>C (p.Pro491=)
c.1437A>C (p.Pro479=)
c.1434A>C (p.Pro478=)
c.864A>C (p.Pro288=)
n.1772-2934T>G
c.1389A>C (p.Pro463=)
c.897A>C (p.Pro299=)
2g.27364490_27364491delinsTGCA1240242798EIF2B4,GTF3C2-AS2c.1481_1482delinsCA (p.Pro494=)
c.*747_*748delinsCA (n.*747_*748delinsCA)
c.1478_1479delinsCA (p.Pro493=)
c.1541_1542delinsCA (p.Pro514=)
n.474_475delinsCA
c.1544_1545delinsCA (p.Pro515=)
c.1472_1473delinsCA (p.Pro491=)
c.1436_1437delinsCA (p.Pro479=)
c.1433_1434delinsCA (p.Pro478=)
c.863_864delinsCA (p.Pro288=)
n.1772-2934_1772-2933delinsTG
c.1388_1389delinsCA (p.Pro463=)
c.896_897delinsCA (p.Pro299=)
2g.27364491G>ACA346196590EIF2B4,GTF3C2-AS2c.1481C>T (p.Pro494Leu)
c.*747C>T (n.*747C>T)
c.1478C>T (p.Pro493Leu)
c.1541C>T (p.Pro514Leu)
n.474C>T
c.1544C>T (p.Pro515Leu)
c.1472C>T (p.Pro491Leu)
c.1436C>T (p.Pro479Leu)
c.1433C>T (p.Pro478Leu)
c.863C>T (p.Pro288Leu)
n.1772-2933G>A
c.1388C>T (p.Pro463Leu)
c.896C>T (p.Pro299Leu)
 dbSNP
2g.27364491G>CCA346196591EIF2B4,GTF3C2-AS2c.1481C>G (p.Pro494Arg)
c.*747C>G (n.*747C>G)
c.1478C>G (p.Pro493Arg)
c.1541C>G (p.Pro514Arg)
n.474C>G
c.1544C>G (p.Pro515Arg)
c.1472C>G (p.Pro491Arg)
c.1436C>G (p.Pro479Arg)
c.1433C>G (p.Pro478Arg)
c.863C>G (p.Pro288Arg)
n.1772-2933G>C
c.1388C>G (p.Pro463Arg)
c.896C>G (p.Pro299Arg)
2g.27364491G=CA1240242799EIF2B4,GTF3C2-AS2c.1481C= (p.Pro494=)
c.*747C= (n.*747C=)
c.1478C= (p.Pro493=)
c.1541C= (p.Pro514=)
n.474C=
c.1544C= (p.Pro515=)
c.1472C= (p.Pro491=)
c.1436C= (p.Pro479=)
c.1433C= (p.Pro478=)
c.863C= (p.Pro288=)
n.1772-2933G=
c.1388C= (p.Pro463=)
c.896C= (p.Pro299=)
2g.27364491G>TCA346196589EIF2B4,GTF3C2-AS2c.1481C>A (p.Pro494Gln)
c.*747C>A (n.*747C>A)
c.1478C>A (p.Pro493Gln)
c.1541C>A (p.Pro514Gln)
n.474C>A
c.1544C>A (p.Pro515Gln)
c.1472C>A (p.Pro491Gln)
c.1436C>A (p.Pro479Gln)
c.1433C>A (p.Pro478Gln)
c.863C>A (p.Pro288Gln)
n.1772-2933G>T
c.1388C>A (p.Pro463Gln)
c.896C>A (p.Pro299Gln)
2g.27364495delCA645539327EIF2B4,GTF3C2-AS2c.1481del (p.Pro494GlnfsTer7)
c.*747del (n.*747del)
c.1478del (p.Pro493GlnfsTer7)
c.1541del (p.Pro514GlnfsTer7)
n.474del
c.1544del (p.Pro515GlnfsTer7)
c.1472del (p.Pro491GlnfsTer7)
c.1436del (p.Pro479GlnfsTer7)
c.1433del (p.Pro478GlnfsTer7)
c.863del (p.Pro288GlnfsTer7)
n.1772-2929del
c.1388del (p.Pro463GlnfsTer7)
c.896del (p.Pro299GlnfsTer7)
 dbSNP COSMIC COSMIC
2g.27364492G>ACA346196594EIF2B4,GTF3C2-AS2c.1480C>T (p.Pro494Ser)
c.*746C>T (n.*746C>T)
c.1477C>T (p.Pro493Ser)
c.1540C>T (p.Pro514Ser)
n.473C>T
c.1543C>T (p.Pro515Ser)
c.1471C>T (p.Pro491Ser)
c.1435C>T (p.Pro479Ser)
c.1432C>T (p.Pro478Ser)
c.862C>T (p.Pro288Ser)
n.1772-2932G>A
c.1387C>T (p.Pro463Ser)
c.895C>T (p.Pro299Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.27364492G>CCA346196592EIF2B4,GTF3C2-AS2c.1480C>G (p.Pro494Ala)
c.*746C>G (n.*746C>G)
c.1477C>G (p.Pro493Ala)
c.1540C>G (p.Pro514Ala)
n.473C>G
c.1543C>G (p.Pro515Ala)
c.1471C>G (p.Pro491Ala)
c.1435C>G (p.Pro479Ala)
c.1432C>G (p.Pro478Ala)
c.862C>G (p.Pro288Ala)
n.1772-2932G>C
c.1387C>G (p.Pro463Ala)
c.895C>G (p.Pro299Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27364492G=CA1240242800EIF2B4,GTF3C2-AS2c.1480C= (p.Pro494=)
c.*746C= (n.*746C=)
c.1477C= (p.Pro493=)
c.1540C= (p.Pro514=)
n.473C=
c.1543C= (p.Pro515=)
c.1471C= (p.Pro491=)
c.1435C= (p.Pro479=)
c.1432C= (p.Pro478=)
c.862C= (p.Pro288=)
n.1772-2932G=
c.1387C= (p.Pro463=)
c.895C= (p.Pro299=)
2g.27364492G>TCA346196593EIF2B4,GTF3C2-AS2c.1480C>A (p.Pro494Thr)
c.*746C>A (n.*746C>A)
c.1477C>A (p.Pro493Thr)
c.1540C>A (p.Pro514Thr)
n.473C>A
c.1543C>A (p.Pro515Thr)
c.1471C>A (p.Pro491Thr)
c.1435C>A (p.Pro479Thr)
c.1432C>A (p.Pro478Thr)
c.862C>A (p.Pro288Thr)
n.1772-2932G>T
c.1387C>A (p.Pro463Thr)
c.895C>A (p.Pro299Thr)
2g.27364493G>ACA425409761EIF2B4,GTF3C2-AS2c.1479C>T (p.Pro493=)
c.*745C>T (n.*745C>T)
c.1476C>T (p.Pro492=)
c.1539C>T (p.Pro513=)
n.472C>T
c.1542C>T (p.Pro514=)
c.1470C>T (p.Pro490=)
c.1434C>T (p.Pro478=)
c.1431C>T (p.Pro477=)
c.861C>T (p.Pro287=)
n.1772-2931G>A
c.1386C>T (p.Pro462=)
c.894C>T (p.Pro298=)
2g.27364493G>CCA425409762EIF2B4,GTF3C2-AS2c.1479C>G (p.Pro493=)
c.*745C>G (n.*745C>G)
c.1476C>G (p.Pro492=)
c.1539C>G (p.Pro513=)
n.472C>G
c.1542C>G (p.Pro514=)
c.1470C>G (p.Pro490=)
c.1434C>G (p.Pro478=)
c.1431C>G (p.Pro477=)
c.861C>G (p.Pro287=)
n.1772-2931G>C
c.1386C>G (p.Pro462=)
c.894C>G (p.Pro298=)
2g.27364493G=CA1240242801EIF2B4,GTF3C2-AS2c.1479C= (p.Pro493=)
c.*745C= (n.*745C=)
c.1476C= (p.Pro492=)
c.1539C= (p.Pro513=)
n.472C=
c.1542C= (p.Pro514=)
c.1470C= (p.Pro490=)
c.1434C= (p.Pro478=)
c.1431C= (p.Pro477=)
c.861C= (p.Pro287=)
n.1772-2931G=
c.1386C= (p.Pro462=)
c.894C= (p.Pro298=)
2g.27364493G>TCA1576562EIF2B4,GTF3C2-AS2c.1479C>A (p.Pro493=)
c.*745C>A (n.*745C>A)
c.1476C>A (p.Pro492=)
c.1539C>A (p.Pro513=)
n.472C>A
c.1542C>A (p.Pro514=)
c.1470C>A (p.Pro490=)
c.1434C>A (p.Pro478=)
c.1431C>A (p.Pro477=)
c.861C>A (p.Pro287=)
n.1772-2931G>T
c.1386C>A (p.Pro462=)
c.894C>A (p.Pro298=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364494G>ACA346196595EIF2B4,GTF3C2-AS2c.1478C>T (p.Pro493Leu)
c.*744C>T (n.*744C>T)
c.1475C>T (p.Pro492Leu)
c.1538C>T (p.Pro513Leu)
n.471C>T
c.1541C>T (p.Pro514Leu)
c.1469C>T (p.Pro490Leu)
c.1433C>T (p.Pro478Leu)
c.1430C>T (p.Pro477Leu)
c.860C>T (p.Pro287Leu)
n.1772-2930G>A
c.1385C>T (p.Pro462Leu)
c.893C>T (p.Pro298Leu)
2g.27364494G>CCA346196596EIF2B4,GTF3C2-AS2c.1478C>G (p.Pro493Arg)
c.*744C>G (n.*744C>G)
c.1475C>G (p.Pro492Arg)
c.1538C>G (p.Pro513Arg)
n.471C>G
c.1541C>G (p.Pro514Arg)
c.1469C>G (p.Pro490Arg)
c.1433C>G (p.Pro478Arg)
c.1430C>G (p.Pro477Arg)
c.860C>G (p.Pro287Arg)
n.1772-2930G>C
c.1385C>G (p.Pro462Arg)
c.893C>G (p.Pro298Arg)
2g.27364494G=CA1240242802EIF2B4,GTF3C2-AS2c.1478C= (p.Pro493=)
c.*744C= (n.*744C=)
c.1475C= (p.Pro492=)
c.1538C= (p.Pro513=)
n.471C=
c.1541C= (p.Pro514=)
c.1469C= (p.Pro490=)
c.1433C= (p.Pro478=)
c.1430C= (p.Pro477=)
c.860C= (p.Pro287=)
n.1772-2930G=
c.1385C= (p.Pro462=)
c.893C= (p.Pro298=)
2g.27364494G>TCA1576563EIF2B4,GTF3C2-AS2c.1478C>A (p.Pro493His)
c.*744C>A (n.*744C>A)
c.1475C>A (p.Pro492His)
c.1538C>A (p.Pro513His)
n.471C>A
c.1541C>A (p.Pro514His)
c.1469C>A (p.Pro490His)
c.1433C>A (p.Pro478His)
c.1430C>A (p.Pro477His)
c.860C>A (p.Pro287His)
n.1772-2930G>T
c.1385C>A (p.Pro462His)
c.893C>A (p.Pro298His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364495G>ACA1576565EIF2B4,GTF3C2-AS2c.1477C>T (p.Pro493Ser)
c.*743C>T (n.*743C>T)
c.1474C>T (p.Pro492Ser)
c.1537C>T (p.Pro513Ser)
n.470C>T
c.1540C>T (p.Pro514Ser)
c.1468C>T (p.Pro490Ser)
c.1432C>T (p.Pro478Ser)
c.1429C>T (p.Pro477Ser)
c.859C>T (p.Pro287Ser)
n.1772-2929G>A
c.1384C>T (p.Pro462Ser)
c.892C>T (p.Pro298Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364495G>CCA346196597EIF2B4,GTF3C2-AS2c.1477C>G (p.Pro493Ala)
c.*743C>G (n.*743C>G)
c.1474C>G (p.Pro492Ala)
c.1537C>G (p.Pro513Ala)
n.470C>G
c.1540C>G (p.Pro514Ala)
c.1468C>G (p.Pro490Ala)
c.1432C>G (p.Pro478Ala)
c.1429C>G (p.Pro477Ala)
c.859C>G (p.Pro287Ala)
n.1772-2929G>C
c.1384C>G (p.Pro462Ala)
c.892C>G (p.Pro298Ala)
2g.27364495G=CA1240242803EIF2B4,GTF3C2-AS2c.1477C= (p.Pro493=)
c.*743C= (n.*743C=)
c.1474C= (p.Pro492=)
c.1537C= (p.Pro513=)
n.470C=
c.1540C= (p.Pro514=)
c.1468C= (p.Pro490=)
c.1432C= (p.Pro478=)
c.1429C= (p.Pro477=)
c.859C= (p.Pro287=)
n.1772-2929G=
c.1384C= (p.Pro462=)
c.892C= (p.Pro298=)
2g.27364495G>TCA1576564EIF2B4,GTF3C2-AS2c.1477C>A (p.Pro493Thr)
c.*743C>A (n.*743C>A)
c.1474C>A (p.Pro492Thr)
c.1537C>A (p.Pro513Thr)
n.470C>A
c.1540C>A (p.Pro514Thr)
c.1468C>A (p.Pro490Thr)
c.1432C>A (p.Pro478Thr)
c.1429C>A (p.Pro477Thr)
c.859C>A (p.Pro287Thr)
n.1772-2929G>T
c.1384C>A (p.Pro462Thr)
c.892C>A (p.Pro298Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364496A=CA1240242804EIF2B4,GTF3C2-AS2c.1476T= (p.Thr492=)
c.*742T= (n.*742T=)
c.1473T= (p.Thr491=)
c.1536T= (p.Thr512=)
n.469T=
c.1539T= (p.Thr513=)
c.1467T= (p.Thr489=)
c.1431T= (p.Thr477=)
c.1428T= (p.Thr476=)
c.858T= (p.Thr286=)
n.1772-2928A=
c.1383T= (p.Thr461=)
c.891T= (p.Thr297=)
2g.27364496A>CCA425409763EIF2B4,GTF3C2-AS2c.1476T>G (p.Thr492=)
c.*742T>G (n.*742T>G)
c.1473T>G (p.Thr491=)
c.1536T>G (p.Thr512=)
n.469T>G
c.1539T>G (p.Thr513=)
c.1467T>G (p.Thr489=)
c.1431T>G (p.Thr477=)
c.1428T>G (p.Thr476=)
c.858T>G (p.Thr286=)
n.1772-2928A>C
c.1383T>G (p.Thr461=)
c.891T>G (p.Thr297=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27364496A>GCA425409764EIF2B4,GTF3C2-AS2c.1476T>C (p.Thr492=)
c.*742T>C (n.*742T>C)
c.1473T>C (p.Thr491=)
c.1536T>C (p.Thr512=)
n.469T>C
c.1539T>C (p.Thr513=)
c.1467T>C (p.Thr489=)
c.1431T>C (p.Thr477=)
c.1428T>C (p.Thr476=)
c.858T>C (p.Thr286=)
n.1772-2928A>G
c.1383T>C (p.Thr461=)
c.891T>C (p.Thr297=)
2g.27364496A>TCA425409765EIF2B4,GTF3C2-AS2c.1476T>A (p.Thr492=)
c.*742T>A (n.*742T>A)
c.1473T>A (p.Thr491=)
c.1536T>A (p.Thr512=)
n.469T>A
c.1539T>A (p.Thr513=)
c.1467T>A (p.Thr489=)
c.1431T>A (p.Thr477=)
c.1428T>A (p.Thr476=)
c.858T>A (p.Thr286=)
n.1772-2928A>T
c.1383T>A (p.Thr461=)
c.891T>A (p.Thr297=)
2g.27364497G>ACA346196598EIF2B4,GTF3C2-AS2c.1475C>T (p.Thr492Ile)
c.*741C>T (n.*741C>T)
c.1472C>T (p.Thr491Ile)
c.1535C>T (p.Thr512Ile)
n.468C>T
c.1538C>T (p.Thr513Ile)
c.1466C>T (p.Thr489Ile)
c.1430C>T (p.Thr477Ile)
c.1427C>T (p.Thr476Ile)
c.857C>T (p.Thr286Ile)
n.1772-2927G>A
c.1382C>T (p.Thr461Ile)
c.890C>T (p.Thr297Ile)
 gnomAD v4
2g.27364497G>CCA346196599EIF2B4,GTF3C2-AS2c.1475C>G (p.Thr492Ser)
c.*741C>G (n.*741C>G)
c.1472C>G (p.Thr491Ser)
c.1535C>G (p.Thr512Ser)
n.468C>G
c.1538C>G (p.Thr513Ser)
c.1466C>G (p.Thr489Ser)
c.1430C>G (p.Thr477Ser)
c.1427C>G (p.Thr476Ser)
c.857C>G (p.Thr286Ser)
n.1772-2927G>C
c.1382C>G (p.Thr461Ser)
c.890C>G (p.Thr297Ser)
2g.27364497G>TCA346196600EIF2B4,GTF3C2-AS2c.1475C>A (p.Thr492Asn)
c.*741C>A (n.*741C>A)
c.1472C>A (p.Thr491Asn)
c.1535C>A (p.Thr512Asn)
n.468C>A
c.1538C>A (p.Thr513Asn)
c.1466C>A (p.Thr489Asn)
c.1430C>A (p.Thr477Asn)
c.1427C>A (p.Thr476Asn)
c.857C>A (p.Thr286Asn)
n.1772-2927G>T
c.1382C>A (p.Thr461Asn)
c.890C>A (p.Thr297Asn)
2g.27364498T>ACA346196603EIF2B4,GTF3C2-AS2c.1474A>T (p.Thr492Ser)
c.*740A>T (n.*740A>T)
c.1471A>T (p.Thr491Ser)
c.1534A>T (p.Thr512Ser)
n.467A>T
c.1537A>T (p.Thr513Ser)
c.1465A>T (p.Thr489Ser)
c.1429A>T (p.Thr477Ser)
c.1426A>T (p.Thr476Ser)
c.856A>T (p.Thr286Ser)
n.1772-2926T>A
c.1381A>T (p.Thr461Ser)
c.889A>T (p.Thr297Ser)
2g.27364498T>CCA346196602EIF2B4,GTF3C2-AS2c.1474A>G (p.Thr492Ala)
c.*740A>G (n.*740A>G)
c.1471A>G (p.Thr491Ala)
c.1534A>G (p.Thr512Ala)
n.467A>G
c.1537A>G (p.Thr513Ala)
c.1465A>G (p.Thr489Ala)
c.1429A>G (p.Thr477Ala)
c.1426A>G (p.Thr476Ala)
c.856A>G (p.Thr286Ala)
n.1772-2926T>C
c.1381A>G (p.Thr461Ala)
c.889A>G (p.Thr297Ala)
 gnomAD v4
2g.27364498T>GCA346196601EIF2B4,GTF3C2-AS2c.1474A>C (p.Thr492Pro)
c.*740A>C (n.*740A>C)
c.1471A>C (p.Thr491Pro)
c.1534A>C (p.Thr512Pro)
n.467A>C
c.1537A>C (p.Thr513Pro)
c.1465A>C (p.Thr489Pro)
c.1429A>C (p.Thr477Pro)
c.1426A>C (p.Thr476Pro)
c.856A>C (p.Thr286Pro)
n.1772-2926T>G
c.1381A>C (p.Thr461Pro)
c.889A>C (p.Thr297Pro)
 gnomAD v4
2g.27364499C>ACA425409766EIF2B4,GTF3C2-AS2c.1473G>T (p.Val491=)
c.*739G>T (n.*739G>T)
c.1470G>T (p.Val490=)
c.1533G>T (p.Val511=)
n.466G>T
c.1536G>T (p.Val512=)
c.1464G>T (p.Val488=)
c.1428G>T (p.Val476=)
c.1425G>T (p.Val475=)
c.855G>T (p.Val285=)
n.1772-2925C>A
c.1380G>T (p.Val460=)
c.888G>T (p.Val296=)
2g.27364499C=CA1240242805EIF2B4,GTF3C2-AS2c.1473G= (p.Val491=)
c.*739G= (n.*739G=)
c.1470G= (p.Val490=)
c.1533G= (p.Val511=)
n.466G=
c.1536G= (p.Val512=)
c.1464G= (p.Val488=)
c.1428G= (p.Val476=)
c.1425G= (p.Val475=)
c.855G= (p.Val285=)
n.1772-2925C=
c.1380G= (p.Val460=)
c.888G= (p.Val296=)
2g.27364499C>GCA425409767EIF2B4,GTF3C2-AS2c.1473G>C (p.Val491=)
c.*739G>C (n.*739G>C)
c.1470G>C (p.Val490=)
c.1533G>C (p.Val511=)
n.466G>C
c.1536G>C (p.Val512=)
c.1464G>C (p.Val488=)
c.1428G>C (p.Val476=)
c.1425G>C (p.Val475=)
c.855G>C (p.Val285=)
n.1772-2925C>G
c.1380G>C (p.Val460=)
c.888G>C (p.Val296=)
2g.27364499C>TCA425409768EIF2B4,GTF3C2-AS2c.1473G>A (p.Val491=)
c.*739G>A (n.*739G>A)
c.1470G>A (p.Val490=)
c.1533G>A (p.Val511=)
n.466G>A
c.1536G>A (p.Val512=)
c.1464G>A (p.Val488=)
c.1428G>A (p.Val476=)
c.1425G>A (p.Val475=)
c.855G>A (p.Val285=)
n.1772-2925C>T
c.1380G>A (p.Val460=)
c.888G>A (p.Val296=)
 dbSNP
2g.27364500A>CCA346196604EIF2B4,GTF3C2-AS2c.1472T>G (p.Val491Gly)
c.*738T>G (n.*738T>G)
c.1469T>G (p.Val490Gly)
c.1532T>G (p.Val511Gly)
n.465T>G
c.1535T>G (p.Val512Gly)
c.1463T>G (p.Val488Gly)
c.1427T>G (p.Val476Gly)
c.1424T>G (p.Val475Gly)
c.854T>G (p.Val285Gly)
n.1772-2924A>C
c.1379T>G (p.Val460Gly)
c.887T>G (p.Val296Gly)
2g.27364500A>GCA346196605EIF2B4,GTF3C2-AS2c.1472T>C (p.Val491Ala)
c.*738T>C (n.*738T>C)
c.1469T>C (p.Val490Ala)
c.1532T>C (p.Val511Ala)
n.465T>C
c.1535T>C (p.Val512Ala)
c.1463T>C (p.Val488Ala)
c.1427T>C (p.Val476Ala)
c.1424T>C (p.Val475Ala)
c.854T>C (p.Val285Ala)
n.1772-2924A>G
c.1379T>C (p.Val460Ala)
c.887T>C (p.Val296Ala)
2g.27364500A>TCA346196606EIF2B4,GTF3C2-AS2c.1472T>A (p.Val491Glu)
c.*738T>A (n.*738T>A)
c.1469T>A (p.Val490Glu)
c.1532T>A (p.Val511Glu)
n.465T>A
c.1535T>A (p.Val512Glu)
c.1463T>A (p.Val488Glu)
c.1427T>A (p.Val476Glu)
c.1424T>A (p.Val475Glu)
c.854T>A (p.Val285Glu)
n.1772-2924A>T
c.1379T>A (p.Val460Glu)
c.887T>A (p.Val296Glu)
2g.27364501C>ACA346196607EIF2B4,GTF3C2-AS2c.1471G>T (p.Val491Leu)
c.*737G>T (n.*737G>T)
c.1468G>T (p.Val490Leu)
c.1531G>T (p.Val511Leu)
n.464G>T
c.1534G>T (p.Val512Leu)
c.1462G>T (p.Val488Leu)
c.1426G>T (p.Val476Leu)
c.1423G>T (p.Val475Leu)
c.853G>T (p.Val285Leu)
n.1772-2923C>A
c.1378G>T (p.Val460Leu)
c.886G>T (p.Val296Leu)
2g.27364501C=CA1240242806EIF2B4,GTF3C2-AS2c.1471G= (p.Val491=)
c.*737G= (n.*737G=)
c.1468G= (p.Val490=)
c.1531G= (p.Val511=)
n.464G=
c.1534G= (p.Val512=)
c.1462G= (p.Val488=)
c.1426G= (p.Val476=)
c.1423G= (p.Val475=)
c.853G= (p.Val285=)
n.1772-2923C=
c.1378G= (p.Val460=)
c.886G= (p.Val296=)
2g.27364501C>GCA346196608EIF2B4,GTF3C2-AS2c.1471G>C (p.Val491Leu)
c.*737G>C (n.*737G>C)
c.1468G>C (p.Val490Leu)
c.1531G>C (p.Val511Leu)
n.464G>C
c.1534G>C (p.Val512Leu)
c.1462G>C (p.Val488Leu)
c.1426G>C (p.Val476Leu)
c.1423G>C (p.Val475Leu)
c.853G>C (p.Val285Leu)
n.1772-2923C>G
c.1378G>C (p.Val460Leu)
c.886G>C (p.Val296Leu)
2g.27364501C>TCA1576566EIF2B4,GTF3C2-AS2c.1471G>A (p.Val491Met)
c.*737G>A (n.*737G>A)
c.1468G>A (p.Val490Met)
c.1531G>A (p.Val511Met)
n.464G>A
c.1534G>A (p.Val512Met)
c.1462G>A (p.Val488Met)
c.1426G>A (p.Val476Met)
c.1423G>A (p.Val475Met)
c.853G>A (p.Val285Met)
n.1772-2923C>T
c.1378G>A (p.Val460Met)
c.886G>A (p.Val296Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364502A=CA1240242807EIF2B4,GTF3C2-AS2c.1470T= (p.Asp490=)
c.*736T= (n.*736T=)
c.1467T= (p.Asp489=)
c.1530T= (p.Asp510=)
n.463T=
c.1533T= (p.Asp511=)
c.1461T= (p.Asp487=)
c.1425T= (p.Asp475=)
c.1422T= (p.Asp474=)
c.852T= (p.Asp284=)
n.1772-2922A=
c.1377T= (p.Asp459=)
c.885T= (p.Asp295=)
2g.27364502A>CCA346196609EIF2B4,GTF3C2-AS2c.1470T>G (p.Asp490Glu)
c.*736T>G (n.*736T>G)
c.1467T>G (p.Asp489Glu)
c.1530T>G (p.Asp510Glu)
n.463T>G
c.1533T>G (p.Asp511Glu)
c.1461T>G (p.Asp487Glu)
c.1425T>G (p.Asp475Glu)
c.1422T>G (p.Asp474Glu)
c.852T>G (p.Asp284Glu)
n.1772-2922A>C
c.1377T>G (p.Asp459Glu)
c.885T>G (p.Asp295Glu)
2g.27364502A>GCA1576567EIF2B4,GTF3C2-AS2c.1470T>C (p.Asp490=)
c.*736T>C (n.*736T>C)
c.1467T>C (p.Asp489=)
c.1530T>C (p.Asp510=)
n.463T>C
c.1533T>C (p.Asp511=)
c.1461T>C (p.Asp487=)
c.1425T>C (p.Asp475=)
c.1422T>C (p.Asp474=)
c.852T>C (p.Asp284=)
n.1772-2922A>G
c.1377T>C (p.Asp459=)
c.885T>C (p.Asp295=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364502A>TCA346196610EIF2B4,GTF3C2-AS2c.1470T>A (p.Asp490Glu)
c.*736T>A (n.*736T>A)
c.1467T>A (p.Asp489Glu)
c.1530T>A (p.Asp510Glu)
n.463T>A
c.1533T>A (p.Asp511Glu)
c.1461T>A (p.Asp487Glu)
c.1425T>A (p.Asp475Glu)
c.1422T>A (p.Asp474Glu)
c.852T>A (p.Asp284Glu)
n.1772-2922A>T
c.1377T>A (p.Asp459Glu)
c.885T>A (p.Asp295Glu)
2g.27364503T>ACA346196611EIF2B4,GTF3C2-AS2c.1469A>T (p.Asp490Val)
c.*735A>T (n.*735A>T)
c.1466A>T (p.Asp489Val)
c.1529A>T (p.Asp510Val)
n.462A>T
c.1532A>T (p.Asp511Val)
c.1460A>T (p.Asp487Val)
c.1424A>T (p.Asp475Val)
c.1421A>T (p.Asp474Val)
c.851A>T (p.Asp284Val)
n.1772-2921T>A
c.1376A>T (p.Asp459Val)
c.884A>T (p.Asp295Val)
2g.27364503T>CCA346196612EIF2B4,GTF3C2-AS2c.1469A>G (p.Asp490Gly)
c.*735A>G (n.*735A>G)
c.1466A>G (p.Asp489Gly)
c.1529A>G (p.Asp510Gly)
n.462A>G
c.1532A>G (p.Asp511Gly)
c.1460A>G (p.Asp487Gly)
c.1424A>G (p.Asp475Gly)
c.1421A>G (p.Asp474Gly)
c.851A>G (p.Asp284Gly)
n.1772-2921T>C
c.1376A>G (p.Asp459Gly)
c.884A>G (p.Asp295Gly)
2g.27364503T>GCA346196613EIF2B4,GTF3C2-AS2c.1469A>C (p.Asp490Ala)
c.*735A>C (n.*735A>C)
c.1466A>C (p.Asp489Ala)
c.1529A>C (p.Asp510Ala)
n.462A>C
c.1532A>C (p.Asp511Ala)
c.1460A>C (p.Asp487Ala)
c.1424A>C (p.Asp475Ala)
c.1421A>C (p.Asp474Ala)
c.851A>C (p.Asp284Ala)
n.1772-2921T>G
c.1376A>C (p.Asp459Ala)
c.884A>C (p.Asp295Ala)
 COSMIC COSMIC
2g.27364504C>ACA346196616EIF2B4,GTF3C2-AS2c.1468G>T (p.Asp490Tyr)
c.*734G>T (n.*734G>T)
c.1465G>T (p.Asp489Tyr)
c.1528G>T (p.Asp510Tyr)
n.461G>T
c.1531G>T (p.Asp511Tyr)
c.1459G>T (p.Asp487Tyr)
c.1423G>T (p.Asp475Tyr)
c.1420G>T (p.Asp474Tyr)
c.850G>T (p.Asp284Tyr)
n.1772-2920C>A
c.1375G>T (p.Asp459Tyr)
c.883G>T (p.Asp295Tyr)
2g.27364504C>GCA346196615EIF2B4,GTF3C2-AS2c.1468G>C (p.Asp490His)
c.*734G>C (n.*734G>C)
c.1465G>C (p.Asp489His)
c.1528G>C (p.Asp510His)
n.461G>C
c.1531G>C (p.Asp511His)
c.1459G>C (p.Asp487His)
c.1423G>C (p.Asp475His)
c.1420G>C (p.Asp474His)
c.850G>C (p.Asp284His)
n.1772-2920C>G
c.1375G>C (p.Asp459His)
c.883G>C (p.Asp295His)
2g.27364504C>TCA346196614EIF2B4,GTF3C2-AS2c.1468G>A (p.Asp490Asn)
c.*734G>A (n.*734G>A)
c.1465G>A (p.Asp489Asn)
c.1528G>A (p.Asp510Asn)
n.461G>A
c.1531G>A (p.Asp511Asn)
c.1459G>A (p.Asp487Asn)
c.1423G>A (p.Asp475Asn)
c.1420G>A (p.Asp474Asn)
c.850G>A (p.Asp284Asn)
n.1772-2920C>T
c.1375G>A (p.Asp459Asn)
c.883G>A (p.Asp295Asn)
2g.27364505A>CCA346196617EIF2B4,GTF3C2-AS2c.1467T>G (p.Tyr489Ter)
c.*733T>G (n.*733T>G)
c.1464T>G (p.Tyr488Ter)
c.1527T>G (p.Tyr509Ter)
n.460T>G
c.1530T>G (p.Tyr510Ter)
c.1458T>G (p.Tyr486Ter)
c.1422T>G (p.Tyr474Ter)
c.1419T>G (p.Tyr473Ter)
c.849T>G (p.Tyr283Ter)
n.1772-2919A>C
c.1374T>G (p.Tyr458Ter)
c.882T>G (p.Tyr294Ter)
2g.27364505A>GCA425409769EIF2B4,GTF3C2-AS2c.1467T>C (p.Tyr489=)
c.*733T>C (n.*733T>C)
c.1464T>C (p.Tyr488=)
c.1527T>C (p.Tyr509=)
n.460T>C
c.1530T>C (p.Tyr510=)
c.1458T>C (p.Tyr486=)
c.1422T>C (p.Tyr474=)
c.1419T>C (p.Tyr473=)
c.849T>C (p.Tyr283=)
n.1772-2919A>G
c.1374T>C (p.Tyr458=)
c.882T>C (p.Tyr294=)
2g.27364505A>TCA346196618EIF2B4,GTF3C2-AS2c.1467T>A (p.Tyr489Ter)
c.*733T>A (n.*733T>A)
c.1464T>A (p.Tyr488Ter)
c.1527T>A (p.Tyr509Ter)
n.460T>A
c.1530T>A (p.Tyr510Ter)
c.1458T>A (p.Tyr486Ter)
c.1422T>A (p.Tyr474Ter)
c.1419T>A (p.Tyr473Ter)
c.849T>A (p.Tyr283Ter)
n.1772-2919A>T
c.1374T>A (p.Tyr458Ter)
c.882T>A (p.Tyr294Ter)
2g.27364506T>ACA346196619EIF2B4,GTF3C2-AS2c.1466A>T (p.Tyr489Phe)
c.*732A>T (n.*732A>T)
c.1463A>T (p.Tyr488Phe)
c.1526A>T (p.Tyr509Phe)
n.459A>T
c.1529A>T (p.Tyr510Phe)
c.1457A>T (p.Tyr486Phe)
c.1421A>T (p.Tyr474Phe)
c.1418A>T (p.Tyr473Phe)
c.848A>T (p.Tyr283Phe)
n.1772-2918T>A
c.1373A>T (p.Tyr458Phe)
c.881A>T (p.Tyr294Phe)
2g.27364506T>CCA346196620EIF2B4,GTF3C2-AS2c.1466A>G (p.Tyr489Cys)
c.*732A>G (n.*732A>G)
c.1463A>G (p.Tyr488Cys)
c.1526A>G (p.Tyr509Cys)
n.459A>G
c.1529A>G (p.Tyr510Cys)
c.1457A>G (p.Tyr486Cys)
c.1421A>G (p.Tyr474Cys)
c.1418A>G (p.Tyr473Cys)
c.848A>G (p.Tyr283Cys)
n.1772-2918T>C
c.1373A>G (p.Tyr458Cys)
c.881A>G (p.Tyr294Cys)
 gnomAD v4
2g.27364506T>GCA346196621EIF2B4,GTF3C2-AS2c.1466A>C (p.Tyr489Ser)
c.*732A>C (n.*732A>C)
c.1463A>C (p.Tyr488Ser)
c.1526A>C (p.Tyr509Ser)
n.459A>C
c.1529A>C (p.Tyr510Ser)
c.1457A>C (p.Tyr486Ser)
c.1421A>C (p.Tyr474Ser)
c.1418A>C (p.Tyr473Ser)
c.848A>C (p.Tyr283Ser)
n.1772-2918T>G
c.1373A>C (p.Tyr458Ser)
c.881A>C (p.Tyr294Ser)
2g.27364507A=CA1240242808EIF2B4,GTF3C2-AS2c.1465T= (p.Tyr489=)
c.*731T= (n.*731T=)
c.1462T= (p.Tyr488=)
c.1525T= (p.Tyr509=)
n.458T=
c.1528T= (p.Tyr510=)
c.1456T= (p.Tyr486=)
c.1420T= (p.Tyr474=)
c.1417T= (p.Tyr473=)
c.847T= (p.Tyr283=)
n.1772-2917A=
c.1372T= (p.Tyr458=)
c.880T= (p.Tyr294=)
2g.27364507A>CCA346196622EIF2B4,GTF3C2-AS2c.1465T>G (p.Tyr489Asp)
c.*731T>G (n.*731T>G)
c.1462T>G (p.Tyr488Asp)
c.1525T>G (p.Tyr509Asp)
n.458T>G
c.1528T>G (p.Tyr510Asp)
c.1456T>G (p.Tyr486Asp)
c.1420T>G (p.Tyr474Asp)
c.1417T>G (p.Tyr473Asp)
c.847T>G (p.Tyr283Asp)
n.1772-2917A>C
c.1372T>G (p.Tyr458Asp)
c.880T>G (p.Tyr294Asp)
2g.27364507A>GCA116653EIF2B4,GTF3C2-AS2c.1465T>C (p.Tyr489His)
c.*731T>C (n.*731T>C)
c.1462T>C (p.Tyr488His)
c.1525T>C (p.Tyr509His)
n.458T>C
c.1528T>C (p.Tyr510His)
c.1456T>C (p.Tyr486His)
c.1420T>C (p.Tyr474His)
c.1417T>C (p.Tyr473His)
c.847T>C (p.Tyr283His)
n.1772-2917A>G
c.1372T>C (p.Tyr458His)
c.880T>C (p.Tyr294His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364507A>TCA346196623EIF2B4,GTF3C2-AS2c.1465T>A (p.Tyr489Asn)
c.*731T>A (n.*731T>A)
c.1462T>A (p.Tyr488Asn)
c.1525T>A (p.Tyr509Asn)
n.458T>A
c.1528T>A (p.Tyr510Asn)
c.1456T>A (p.Tyr486Asn)
c.1420T>A (p.Tyr474Asn)
c.1417T>A (p.Tyr473Asn)
c.847T>A (p.Tyr283Asn)
n.1772-2917A>T
c.1372T>A (p.Tyr458Asn)
c.880T>A (p.Tyr294Asn)
2g.27364508G>ACA44509150EIF2B4,GTF3C2-AS2c.1464C>T (p.Val488=)
c.*730C>T (n.*730C>T)
c.1461C>T (p.Val487=)
c.1524C>T (p.Val508=)
n.457C>T
c.1527C>T (p.Val509=)
c.1455C>T (p.Val485=)
c.1419C>T (p.Val473=)
c.1416C>T (p.Val472=)
c.846C>T (p.Val282=)
n.1772-2916G>A
c.1371C>T (p.Val457=)
c.879C>T (p.Val293=)
 dbSNP
2g.27364508G>CCA425409770EIF2B4,GTF3C2-AS2c.1464C>G (p.Val488=)
c.*730C>G (n.*730C>G)
c.1461C>G (p.Val487=)
c.1524C>G (p.Val508=)
n.457C>G
c.1527C>G (p.Val509=)
c.1455C>G (p.Val485=)
c.1419C>G (p.Val473=)
c.1416C>G (p.Val472=)
c.846C>G (p.Val282=)
n.1772-2916G>C
c.1371C>G (p.Val457=)
c.879C>G (p.Val293=)
2g.27364508G=CA1240242809EIF2B4,GTF3C2-AS2c.1464C= (p.Val488=)
c.*730C= (n.*730C=)
c.1461C= (p.Val487=)
c.1524C= (p.Val508=)
n.457C=
c.1527C= (p.Val509=)
c.1455C= (p.Val485=)
c.1419C= (p.Val473=)
c.1416C= (p.Val472=)
c.846C= (p.Val282=)
n.1772-2916G=
c.1371C= (p.Val457=)
c.879C= (p.Val293=)
2g.27364508G>TCA425409771EIF2B4,GTF3C2-AS2c.1464C>A (p.Val488=)
c.*730C>A (n.*730C>A)
c.1461C>A (p.Val487=)
c.1524C>A (p.Val508=)
n.457C>A
c.1527C>A (p.Val509=)
c.1455C>A (p.Val485=)
c.1419C>A (p.Val473=)
c.1416C>A (p.Val472=)
c.846C>A (p.Val282=)
n.1772-2916G>T
c.1371C>A (p.Val457=)
c.879C>A (p.Val293=)
2g.27364509A>CCA346196624EIF2B4,GTF3C2-AS2c.1463T>G (p.Val488Gly)
c.*729T>G (n.*729T>G)
c.1460T>G (p.Val487Gly)
c.1523T>G (p.Val508Gly)
n.456T>G
c.1526T>G (p.Val509Gly)
c.1454T>G (p.Val485Gly)
c.1418T>G (p.Val473Gly)
c.1415T>G (p.Val472Gly)
c.845T>G (p.Val282Gly)
n.1772-2915A>C
c.1370T>G (p.Val457Gly)
c.878T>G (p.Val293Gly)
2g.27364509A>GCA346196625EIF2B4,GTF3C2-AS2c.1463T>C (p.Val488Ala)
c.*729T>C (n.*729T>C)
c.1460T>C (p.Val487Ala)
c.1523T>C (p.Val508Ala)
n.456T>C
c.1526T>C (p.Val509Ala)
c.1454T>C (p.Val485Ala)
c.1418T>C (p.Val473Ala)
c.1415T>C (p.Val472Ala)
c.845T>C (p.Val282Ala)
n.1772-2915A>G
c.1370T>C (p.Val457Ala)
c.878T>C (p.Val293Ala)
2g.27364509A>TCA346196626EIF2B4,GTF3C2-AS2c.1463T>A (p.Val488Asp)
c.*729T>A (n.*729T>A)
c.1460T>A (p.Val487Asp)
c.1523T>A (p.Val508Asp)
n.456T>A
c.1526T>A (p.Val509Asp)
c.1454T>A (p.Val485Asp)
c.1418T>A (p.Val473Asp)
c.1415T>A (p.Val472Asp)
c.845T>A (p.Val282Asp)
n.1772-2915A>T
c.1370T>A (p.Val457Asp)
c.878T>A (p.Val293Asp)
2g.27364510C>ACA346196628EIF2B4,GTF3C2-AS2c.1462G>T (p.Val488Phe)
c.*728G>T (n.*728G>T)
c.1459G>T (p.Val487Phe)
c.1522G>T (p.Val508Phe)
n.455G>T
c.1525G>T (p.Val509Phe)
c.1453G>T (p.Val485Phe)
c.1417G>T (p.Val473Phe)
c.1414G>T (p.Val472Phe)
c.844G>T (p.Val282Phe)
n.1772-2914C>A
c.1369G>T (p.Val457Phe)
c.877G>T (p.Val293Phe)
2g.27364510C=CA1240242810EIF2B4,GTF3C2-AS2c.1462G= (p.Val488=)
c.*728G= (n.*728G=)
c.1459G= (p.Val487=)
c.1522G= (p.Val508=)
n.455G=
c.1525G= (p.Val509=)
c.1453G= (p.Val485=)
c.1417G= (p.Val473=)
c.1414G= (p.Val472=)
c.844G= (p.Val282=)
n.1772-2914C=
c.1369G= (p.Val457=)
c.877G= (p.Val293=)
2g.27364510C>GCA346196629EIF2B4,GTF3C2-AS2c.1462G>C (p.Val488Leu)
c.*728G>C (n.*728G>C)
c.1459G>C (p.Val487Leu)
c.1522G>C (p.Val508Leu)
n.455G>C
c.1525G>C (p.Val509Leu)
c.1453G>C (p.Val485Leu)
c.1417G>C (p.Val473Leu)
c.1414G>C (p.Val472Leu)
c.844G>C (p.Val282Leu)
n.1772-2914C>G
c.1369G>C (p.Val457Leu)
c.877G>C (p.Val293Leu)
 gnomAD v4
2g.27364510C>TCA346196627EIF2B4,GTF3C2-AS2c.1462G>A (p.Val488Ile)
c.*728G>A (n.*728G>A)
c.1459G>A (p.Val487Ile)
c.1522G>A (p.Val508Ile)
n.455G>A
c.1525G>A (p.Val509Ile)
c.1453G>A (p.Val485Ile)
c.1417G>A (p.Val473Ile)
c.1414G>A (p.Val472Ile)
c.844G>A (p.Val282Ile)
n.1772-2914C>T
c.1369G>A (p.Val457Ile)
c.877G>A (p.Val293Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.27364511T>ACA425409772EIF2B4,GTF3C2-AS2c.1461A>T (p.Leu487=)
c.*727A>T (n.*727A>T)
c.1458A>T (p.Leu486=)
c.1521A>T (p.Leu507=)
n.454A>T
c.1524A>T (p.Leu508=)
c.1452A>T (p.Leu484=)
c.1416A>T (p.Leu472=)
c.1413A>T (p.Leu471=)
c.843A>T (p.Leu281=)
n.1772-2913T>A
c.1368A>T (p.Leu456=)
c.876A>T (p.Leu292=)
2g.27364511T>CCA425409773EIF2B4,GTF3C2-AS2c.1461A>G (p.Leu487=)
c.*727A>G (n.*727A>G)
c.1458A>G (p.Leu486=)
c.1521A>G (p.Leu507=)
n.454A>G
c.1524A>G (p.Leu508=)
c.1452A>G (p.Leu484=)
c.1416A>G (p.Leu472=)
c.1413A>G (p.Leu471=)
c.843A>G (p.Leu281=)
n.1772-2913T>C
c.1368A>G (p.Leu456=)
c.876A>G (p.Leu292=)
2g.27364511T>GCA425409774EIF2B4,GTF3C2-AS2c.1461A>C (p.Leu487=)
c.*727A>C (n.*727A>C)
c.1458A>C (p.Leu486=)
c.1521A>C (p.Leu507=)
n.454A>C
c.1524A>C (p.Leu508=)
c.1452A>C (p.Leu484=)
c.1416A>C (p.Leu472=)
c.1413A>C (p.Leu471=)
c.843A>C (p.Leu281=)
n.1772-2913T>G
c.1368A>C (p.Leu456=)
c.876A>C (p.Leu292=)
2g.27364512A>CCA346196630EIF2B4,GTF3C2-AS2c.1460T>G (p.Leu487Arg)
c.*726T>G (n.*726T>G)
c.1457T>G (p.Leu486Arg)
c.1520T>G (p.Leu507Arg)
n.453T>G
c.1523T>G (p.Leu508Arg)
c.1451T>G (p.Leu484Arg)
c.1415T>G (p.Leu472Arg)
c.1412T>G (p.Leu471Arg)
c.842T>G (p.Leu281Arg)
n.1772-2912A>C
c.1367T>G (p.Leu456Arg)
c.875T>G (p.Leu292Arg)
2g.27364512A>GCA346196631EIF2B4,GTF3C2-AS2c.1460T>C (p.Leu487Pro)
c.*726T>C (n.*726T>C)
c.1457T>C (p.Leu486Pro)
c.1520T>C (p.Leu507Pro)
n.453T>C
c.1523T>C (p.Leu508Pro)
c.1451T>C (p.Leu484Pro)
c.1415T>C (p.Leu472Pro)
c.1412T>C (p.Leu471Pro)
c.842T>C (p.Leu281Pro)
n.1772-2912A>G
c.1367T>C (p.Leu456Pro)
c.875T>C (p.Leu292Pro)
2g.27364512A>TCA346196632EIF2B4,GTF3C2-AS2c.1460T>A (p.Leu487Gln)
c.*726T>A (n.*726T>A)
c.1457T>A (p.Leu486Gln)
c.1520T>A (p.Leu507Gln)
n.453T>A
c.1523T>A (p.Leu508Gln)
c.1451T>A (p.Leu484Gln)
c.1415T>A (p.Leu472Gln)
c.1412T>A (p.Leu471Gln)
c.842T>A (p.Leu281Gln)
n.1772-2912A>T
c.1367T>A (p.Leu456Gln)
c.875T>A (p.Leu292Gln)
2g.27364513G>ACA1576568EIF2B4,GTF3C2-AS2c.1459C>T (p.Leu487=)
c.*725C>T (n.*725C>T)
c.1456C>T (p.Leu486=)
c.1519C>T (p.Leu507=)
n.452C>T
c.1522C>T (p.Leu508=)
c.1450C>T (p.Leu484=)
c.1414C>T (p.Leu472=)
c.1411C>T (p.Leu471=)
c.841C>T (p.Leu281=)
n.1772-2911G>A
c.1366C>T (p.Leu456=)
c.874C>T (p.Leu292=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364513G>CCA346196633EIF2B4,GTF3C2-AS2c.1459C>G (p.Leu487Val)
c.*725C>G (n.*725C>G)
c.1456C>G (p.Leu486Val)
c.1519C>G (p.Leu507Val)
n.452C>G
c.1522C>G (p.Leu508Val)
c.1450C>G (p.Leu484Val)
c.1414C>G (p.Leu472Val)
c.1411C>G (p.Leu471Val)
c.841C>G (p.Leu281Val)
n.1772-2911G>C
c.1366C>G (p.Leu456Val)
c.874C>G (p.Leu292Val)
 gnomAD v4
2g.27364513G=CA1240242811EIF2B4,GTF3C2-AS2c.1459C= (p.Leu487=)
c.*725C= (n.*725C=)
c.1456C= (p.Leu486=)
c.1519C= (p.Leu507=)
n.452C=
c.1522C= (p.Leu508=)
c.1450C= (p.Leu484=)
c.1414C= (p.Leu472=)
c.1411C= (p.Leu471=)
c.841C= (p.Leu281=)
n.1772-2911G=
c.1366C= (p.Leu456=)
c.874C= (p.Leu292=)
2g.27364513G>TCA346196634EIF2B4,GTF3C2-AS2c.1459C>A (p.Leu487Ile)
c.*725C>A (n.*725C>A)
c.1456C>A (p.Leu486Ile)
c.1519C>A (p.Leu507Ile)
n.452C>A
c.1522C>A (p.Leu508Ile)
c.1450C>A (p.Leu484Ile)
c.1414C>A (p.Leu472Ile)
c.1411C>A (p.Leu471Ile)
c.841C>A (p.Leu281Ile)
n.1772-2911G>T
c.1366C>A (p.Leu456Ile)
c.874C>A (p.Leu292Ile)
2g.27364514A>CCA346196635EIF2B4,GTF3C2-AS2c.1458T>G (p.Asn486Lys)
c.*724T>G (n.*724T>G)
c.1455T>G (p.Asn485Lys)
c.1518T>G (p.Asn506Lys)
n.451T>G
c.1521T>G (p.Asn507Lys)
c.1449T>G (p.Asn483Lys)
c.1413T>G (p.Asn471Lys)
c.1410T>G (p.Asn470Lys)
c.840T>G (p.Asn280Lys)
n.1772-2910A>C
c.1365T>G (p.Asn455Lys)
c.873T>G (p.Asn291Lys)
2g.27364514A>GCA425409775EIF2B4,GTF3C2-AS2c.1458T>C (p.Asn486=)
c.*724T>C (n.*724T>C)
c.1455T>C (p.Asn485=)
c.1518T>C (p.Asn506=)
n.451T>C
c.1521T>C (p.Asn507=)
c.1449T>C (p.Asn483=)
c.1413T>C (p.Asn471=)
c.1410T>C (p.Asn470=)
c.840T>C (p.Asn280=)
n.1772-2910A>G
c.1365T>C (p.Asn455=)
c.873T>C (p.Asn291=)
2g.27364514A>TCA346196636EIF2B4,GTF3C2-AS2c.1458T>A (p.Asn486Lys)
c.*724T>A (n.*724T>A)
c.1455T>A (p.Asn485Lys)
c.1518T>A (p.Asn506Lys)
n.451T>A
c.1521T>A (p.Asn507Lys)
c.1449T>A (p.Asn483Lys)
c.1413T>A (p.Asn471Lys)
c.1410T>A (p.Asn470Lys)
c.840T>A (p.Asn280Lys)
n.1772-2910A>T
c.1365T>A (p.Asn455Lys)
c.873T>A (p.Asn291Lys)
2g.27364515T>ACA346196637EIF2B4,GTF3C2-AS2c.1457A>T (p.Asn486Ile)
c.*723A>T (n.*723A>T)
c.1454A>T (p.Asn485Ile)
c.1517A>T (p.Asn506Ile)
n.450A>T
c.1520A>T (p.Asn507Ile)
c.1448A>T (p.Asn483Ile)
c.1412A>T (p.Asn471Ile)
c.1409A>T (p.Asn470Ile)
c.839A>T (p.Asn280Ile)
n.1772-2909T>A
c.1364A>T (p.Asn455Ile)
c.872A>T (p.Asn291Ile)
2g.27364515T>CCA346196638EIF2B4,GTF3C2-AS2c.1457A>G (p.Asn486Ser)
c.*723A>G (n.*723A>G)
c.1454A>G (p.Asn485Ser)
c.1517A>G (p.Asn506Ser)
n.450A>G
c.1520A>G (p.Asn507Ser)
c.1448A>G (p.Asn483Ser)
c.1412A>G (p.Asn471Ser)
c.1409A>G (p.Asn470Ser)
c.839A>G (p.Asn280Ser)
n.1772-2909T>C
c.1364A>G (p.Asn455Ser)
c.872A>G (p.Asn291Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.27364515T>GCA346196639EIF2B4,GTF3C2-AS2c.1457A>C (p.Asn486Thr)
c.*723A>C (n.*723A>C)
c.1454A>C (p.Asn485Thr)
c.1517A>C (p.Asn506Thr)
n.450A>C
c.1520A>C (p.Asn507Thr)
c.1448A>C (p.Asn483Thr)
c.1412A>C (p.Asn471Thr)
c.1409A>C (p.Asn470Thr)
c.839A>C (p.Asn280Thr)
n.1772-2909T>G
c.1364A>C (p.Asn455Thr)
c.872A>C (p.Asn291Thr)
2g.27364515T=CA1240242812EIF2B4,GTF3C2-AS2c.1457A= (p.Asn486=)
c.*723A= (n.*723A=)
c.1454A= (p.Asn485=)
c.1517A= (p.Asn506=)
n.450A=
c.1520A= (p.Asn507=)
c.1448A= (p.Asn483=)
c.1412A= (p.Asn471=)
c.1409A= (p.Asn470=)
c.839A= (p.Asn280=)
n.1772-2909T=
c.1364A= (p.Asn455=)
c.872A= (p.Asn291=)
2g.27364516T>ACA346196640EIF2B4,GTF3C2-AS2c.1456A>T (p.Asn486Tyr)
c.*722A>T (n.*722A>T)
c.1453A>T (p.Asn485Tyr)
c.1516A>T (p.Asn506Tyr)
n.449A>T
c.1519A>T (p.Asn507Tyr)
c.1447A>T (p.Asn483Tyr)
c.1411A>T (p.Asn471Tyr)
c.1408A>T (p.Asn470Tyr)
c.838A>T (p.Asn280Tyr)
n.1772-2908T>A
c.1363A>T (p.Asn455Tyr)
c.871A>T (p.Asn291Tyr)
2g.27364516T>CCA346196641EIF2B4,GTF3C2-AS2c.1456A>G (p.Asn486Asp)
c.*722A>G (n.*722A>G)
c.1453A>G (p.Asn485Asp)
c.1516A>G (p.Asn506Asp)
n.449A>G
c.1519A>G (p.Asn507Asp)
c.1447A>G (p.Asn483Asp)
c.1411A>G (p.Asn471Asp)
c.1408A>G (p.Asn470Asp)
c.838A>G (p.Asn280Asp)
n.1772-2908T>C
c.1363A>G (p.Asn455Asp)
c.871A>G (p.Asn291Asp)
 gnomAD v4
2g.27364516T>GCA346196642EIF2B4,GTF3C2-AS2c.1456A>C (p.Asn486His)
c.*722A>C (n.*722A>C)
c.1453A>C (p.Asn485His)
c.1516A>C (p.Asn506His)
n.449A>C
c.1519A>C (p.Asn507His)
c.1447A>C (p.Asn483His)
c.1411A>C (p.Asn471His)
c.1408A>C (p.Asn470His)
c.838A>C (p.Asn280His)
n.1772-2908T>G
c.1363A>C (p.Asn455His)
c.871A>C (p.Asn291His)
2g.27364517C>ACA346196644EIF2B4,GTF3C2-AS2c.1455G>T (p.Leu485Phe)
c.*721G>T (n.*721G>T)
c.1452G>T (p.Leu484Phe)
c.1515G>T (p.Leu505Phe)
n.448G>T
c.1518G>T (p.Leu506Phe)
c.1446G>T (p.Leu482Phe)
c.1410G>T (p.Leu470Phe)
c.1407G>T (p.Leu469Phe)
c.837G>T (p.Leu279Phe)
n.1772-2907C>A
c.1362G>T (p.Leu454Phe)
c.870G>T (p.Leu290Phe)
2g.27364517C>GCA346196643EIF2B4,GTF3C2-AS2c.1455G>C (p.Leu485Phe)
c.*721G>C (n.*721G>C)
c.1452G>C (p.Leu484Phe)
c.1515G>C (p.Leu505Phe)
n.448G>C
c.1518G>C (p.Leu506Phe)
c.1446G>C (p.Leu482Phe)
c.1410G>C (p.Leu470Phe)
c.1407G>C (p.Leu469Phe)
c.837G>C (p.Leu279Phe)
n.1772-2907C>G
c.1362G>C (p.Leu454Phe)
c.870G>C (p.Leu290Phe)
 gnomAD v4
2g.27364517C>TCA425409776EIF2B4,GTF3C2-AS2c.1455G>A (p.Leu485=)
c.*721G>A (n.*721G>A)
c.1452G>A (p.Leu484=)
c.1515G>A (p.Leu505=)
n.448G>A
c.1518G>A (p.Leu506=)
c.1446G>A (p.Leu482=)
c.1410G>A (p.Leu470=)
c.1407G>A (p.Leu469=)
c.837G>A (p.Leu279=)
n.1772-2907C>T
c.1362G>A (p.Leu454=)
c.870G>A (p.Leu290=)
2g.27364521_27364523delCA2658336133EIF2B4,GTF3C2-AS2c.1453_1455del (p.Leu485del)
c.*719_*721del (n.*719_*721del)
c.1450_1452del (p.Leu484del)
c.1513_1515del (p.Leu505del)
n.446_448del
c.1516_1518del (p.Leu506del)
c.1444_1446del (p.Leu482del)
c.1408_1410del (p.Leu470del)
c.1405_1407del (p.Leu469del)
c.835_837del (p.Leu279del)
n.1772-2903_1772-2901del
c.1360_1362del (p.Leu454del)
c.868_870del (p.Leu290del)
 gnomAD v4
2g.27364518A>CCA346196645EIF2B4,GTF3C2-AS2c.1454T>G (p.Leu485Trp)
c.*720T>G (n.*720T>G)
c.1451T>G (p.Leu484Trp)
c.1514T>G (p.Leu505Trp)
n.447T>G
c.1517T>G (p.Leu506Trp)
c.1445T>G (p.Leu482Trp)
c.1409T>G (p.Leu470Trp)
c.1406T>G (p.Leu469Trp)
c.836T>G (p.Leu279Trp)
n.1772-2906A>C
c.1361T>G (p.Leu454Trp)
c.869T>G (p.Leu290Trp)
2g.27364518A>GCA346196647EIF2B4,GTF3C2-AS2c.1454T>C (p.Leu485Ser)
c.*720T>C (n.*720T>C)
c.1451T>C (p.Leu484Ser)
c.1514T>C (p.Leu505Ser)
n.447T>C
c.1517T>C (p.Leu506Ser)
c.1445T>C (p.Leu482Ser)
c.1409T>C (p.Leu470Ser)
c.1406T>C (p.Leu469Ser)
c.836T>C (p.Leu279Ser)
n.1772-2906A>G
c.1361T>C (p.Leu454Ser)
c.869T>C (p.Leu290Ser)
2g.27364518A>TCA346196646EIF2B4,GTF3C2-AS2c.1454T>A (p.Leu485Ter)
c.*720T>A (n.*720T>A)
c.1451T>A (p.Leu484Ter)
c.1514T>A (p.Leu505Ter)
n.447T>A
c.1517T>A (p.Leu506Ter)
c.1445T>A (p.Leu482Ter)
c.1409T>A (p.Leu470Ter)
c.1406T>A (p.Leu469Ter)
c.836T>A (p.Leu279Ter)
n.1772-2906A>T
c.1361T>A (p.Leu454Ter)
c.869T>A (p.Leu290Ter)
2g.27364519A=CA1240242813EIF2B4,GTF3C2-AS2c.1453T= (p.Leu485=)
c.*719T= (n.*719T=)
c.1450T= (p.Leu484=)
c.1513T= (p.Leu505=)
n.446T=
c.1516T= (p.Leu506=)
c.1444T= (p.Leu482=)
c.1408T= (p.Leu470=)
c.1405T= (p.Leu469=)
c.835T= (p.Leu279=)
n.1772-2905A=
c.1360T= (p.Leu454=)
c.868T= (p.Leu290=)
2g.27364519A>CCA346196648EIF2B4,GTF3C2-AS2c.1453T>G (p.Leu485Val)
c.*719T>G (n.*719T>G)
c.1450T>G (p.Leu484Val)
c.1513T>G (p.Leu505Val)
n.446T>G
c.1516T>G (p.Leu506Val)
c.1444T>G (p.Leu482Val)
c.1408T>G (p.Leu470Val)
c.1405T>G (p.Leu469Val)
c.835T>G (p.Leu279Val)
n.1772-2905A>C
c.1360T>G (p.Leu454Val)
c.868T>G (p.Leu290Val)
2g.27364519A>GCA425409777EIF2B4,GTF3C2-AS2c.1453T>C (p.Leu485=)
c.*719T>C (n.*719T>C)
c.1450T>C (p.Leu484=)
c.1513T>C (p.Leu505=)
n.446T>C
c.1516T>C (p.Leu506=)
c.1444T>C (p.Leu482=)
c.1408T>C (p.Leu470=)
c.1405T>C (p.Leu469=)
c.835T>C (p.Leu279=)
n.1772-2905A>G
c.1360T>C (p.Leu454=)
c.868T>C (p.Leu290=)
 dbSNP gnomAD v3 gnomAD v4
2g.27364519A>TCA346196649EIF2B4,GTF3C2-AS2c.1453T>A (p.Leu485Met)
c.*719T>A (n.*719T>A)
c.1450T>A (p.Leu484Met)
c.1513T>A (p.Leu505Met)
n.446T>A
c.1516T>A (p.Leu506Met)
c.1444T>A (p.Leu482Met)
c.1408T>A (p.Leu470Met)
c.1405T>A (p.Leu469Met)
c.835T>A (p.Leu279Met)
n.1772-2905A>T
c.1360T>A (p.Leu454Met)
c.868T>A (p.Leu290Met)
2g.27364520C>ACA346196650EIF2B4,GTF3C2-AS2c.1452G>T (p.Leu484Phe)
c.*718G>T (n.*718G>T)
c.1449G>T (p.Leu483Phe)
c.1512G>T (p.Leu504Phe)
n.445G>T
c.1515G>T (p.Leu505Phe)
c.1443G>T (p.Leu481Phe)
c.1407G>T (p.Leu469Phe)
c.1404G>T (p.Leu468Phe)
c.834G>T (p.Leu278Phe)
n.1772-2904C>A
c.1359G>T (p.Leu453Phe)
c.867G>T (p.Leu289Phe)
2g.27364520C>GCA346196651EIF2B4,GTF3C2-AS2c.1452G>C (p.Leu484Phe)
c.*718G>C (n.*718G>C)
c.1449G>C (p.Leu483Phe)
c.1512G>C (p.Leu504Phe)
n.445G>C
c.1515G>C (p.Leu505Phe)
c.1443G>C (p.Leu481Phe)
c.1407G>C (p.Leu469Phe)
c.1404G>C (p.Leu468Phe)
c.834G>C (p.Leu278Phe)
n.1772-2904C>G
c.1359G>C (p.Leu453Phe)
c.867G>C (p.Leu289Phe)
2g.27364520C>TCA425409778EIF2B4,GTF3C2-AS2c.1452G>A (p.Leu484=)
c.*718G>A (n.*718G>A)
c.1449G>A (p.Leu483=)
c.1512G>A (p.Leu504=)
n.445G>A
c.1515G>A (p.Leu505=)
c.1443G>A (p.Leu481=)
c.1407G>A (p.Leu469=)
c.1404G>A (p.Leu468=)
c.834G>A (p.Leu278=)
n.1772-2904C>T
c.1359G>A (p.Leu453=)
c.867G>A (p.Leu289=)
2g.27364521A>CCA346196652EIF2B4,GTF3C2-AS2c.1451T>G (p.Leu484Trp)
c.*717T>G (n.*717T>G)
c.1448T>G (p.Leu483Trp)
c.1511T>G (p.Leu504Trp)
n.444T>G
c.1514T>G (p.Leu505Trp)
c.1442T>G (p.Leu481Trp)
c.1406T>G (p.Leu469Trp)
c.1403T>G (p.Leu468Trp)
c.833T>G (p.Leu278Trp)
n.1772-2903A>C
c.1358T>G (p.Leu453Trp)
c.866T>G (p.Leu289Trp)
2g.27364521A>GCA346196653EIF2B4,GTF3C2-AS2c.1451T>C (p.Leu484Ser)
c.*717T>C (n.*717T>C)
c.1448T>C (p.Leu483Ser)
c.1511T>C (p.Leu504Ser)
n.444T>C
c.1514T>C (p.Leu505Ser)
c.1442T>C (p.Leu481Ser)
c.1406T>C (p.Leu469Ser)
c.1403T>C (p.Leu468Ser)
c.833T>C (p.Leu278Ser)
n.1772-2903A>G
c.1358T>C (p.Leu453Ser)
c.866T>C (p.Leu289Ser)
2g.27364521A>TCA346196654EIF2B4,GTF3C2-AS2c.1451T>A (p.Leu484Ter)
c.*717T>A (n.*717T>A)
c.1448T>A (p.Leu483Ter)
c.1511T>A (p.Leu504Ter)
n.444T>A
c.1514T>A (p.Leu505Ter)
c.1442T>A (p.Leu481Ter)
c.1406T>A (p.Leu469Ter)
c.1403T>A (p.Leu468Ter)
c.833T>A (p.Leu278Ter)
n.1772-2903A>T
c.1358T>A (p.Leu453Ter)
c.866T>A (p.Leu289Ter)
2g.27364522delCA2749264941EIF2B4,GTF3C2-AS2c.1451del (p.Leu484CysfsTer2)
c.*717del (n.*717del)
c.1448del (p.Leu483CysfsTer2)
c.1511del (p.Leu504CysfsTer2)
n.444del
c.1514del (p.Leu505CysfsTer2)
c.1442del (p.Leu481CysfsTer2)
c.1406del (p.Leu469CysfsTer2)
c.1403del (p.Leu468CysfsTer2)
c.833del (p.Leu278CysfsTer2)
n.1772-2902del
c.1358del (p.Leu453CysfsTer2)
c.866del (p.Leu289CysfsTer2)
2g.27364522A>CCA346196655EIF2B4,GTF3C2-AS2c.1450T>G (p.Leu484Val)
c.*716T>G (n.*716T>G)
c.1447T>G (p.Leu483Val)
c.1510T>G (p.Leu504Val)
n.443T>G
c.1513T>G (p.Leu505Val)
c.1441T>G (p.Leu481Val)
c.1405T>G (p.Leu469Val)
c.1402T>G (p.Leu468Val)
c.832T>G (p.Leu278Val)
n.1772-2902A>C
c.1357T>G (p.Leu453Val)
c.865T>G (p.Leu289Val)
2g.27364522A>GCA425409779EIF2B4,GTF3C2-AS2c.1450T>C (p.Leu484=)
c.*716T>C (n.*716T>C)
c.1447T>C (p.Leu483=)
c.1510T>C (p.Leu504=)
n.443T>C
c.1513T>C (p.Leu505=)
c.1441T>C (p.Leu481=)
c.1405T>C (p.Leu469=)
c.1402T>C (p.Leu468=)
c.832T>C (p.Leu278=)
n.1772-2902A>G
c.1357T>C (p.Leu453=)
c.865T>C (p.Leu289=)
2g.27364522A>TCA346196656EIF2B4,GTF3C2-AS2c.1450T>A (p.Leu484Met)
c.*716T>A (n.*716T>A)
c.1447T>A (p.Leu483Met)
c.1510T>A (p.Leu504Met)
n.443T>A
c.1513T>A (p.Leu505Met)
c.1441T>A (p.Leu481Met)
c.1405T>A (p.Leu469Met)
c.1402T>A (p.Leu468Met)
c.832T>A (p.Leu278Met)
n.1772-2902A>T
c.1357T>A (p.Leu453Met)
c.865T>A (p.Leu289Met)
2g.27364523C>ACA425409780EIF2B4,GTF3C2-AS2c.1449G>T (p.Arg483=)
c.*715G>T (n.*715G>T)
c.1446G>T (p.Arg482=)
c.1509G>T (p.Arg503=)
n.442G>T
c.1512G>T (p.Arg504=)
c.1440G>T (p.Arg480=)
c.1404G>T (p.Arg468=)
c.1401G>T (p.Arg467=)
c.831G>T (p.Arg277=)
n.1772-2901C>A
c.1356G>T (p.Arg452=)
c.864G>T (p.Arg288=)
2g.27364523C>GCA425409781EIF2B4,GTF3C2-AS2c.1449G>C (p.Arg483=)
c.*715G>C (n.*715G>C)
c.1446G>C (p.Arg482=)
c.1509G>C (p.Arg503=)
n.442G>C
c.1512G>C (p.Arg504=)
c.1440G>C (p.Arg480=)
c.1404G>C (p.Arg468=)
c.1401G>C (p.Arg467=)
c.831G>C (p.Arg277=)
n.1772-2901C>G
c.1356G>C (p.Arg452=)
c.864G>C (p.Arg288=)
2g.27364523C>TCA425409782EIF2B4,GTF3C2-AS2c.1449G>A (p.Arg483=)
c.*715G>A (n.*715G>A)
c.1446G>A (p.Arg482=)
c.1509G>A (p.Arg503=)
n.442G>A
c.1512G>A (p.Arg504=)
c.1440G>A (p.Arg480=)
c.1404G>A (p.Arg468=)
c.1401G>A (p.Arg467=)
c.831G>A (p.Arg277=)
n.1772-2901C>T
c.1356G>A (p.Arg452=)
c.864G>A (p.Arg288=)
2g.27364524C>ACA346196657EIF2B4,GTF3C2-AS2c.1448G>T (p.Arg483Leu)
c.*714G>T (n.*714G>T)
c.1445G>T (p.Arg482Leu)
c.1508G>T (p.Arg503Leu)
n.441G>T
c.1511G>T (p.Arg504Leu)
c.1439G>T (p.Arg480Leu)
c.1403G>T (p.Arg468Leu)
c.1400G>T (p.Arg467Leu)
c.830G>T (p.Arg277Leu)
n.1772-2900C>A
c.1355G>T (p.Arg452Leu)
c.863G>T (p.Arg288Leu)
2g.27364524C=CA1240242814EIF2B4,GTF3C2-AS2c.1448G= (p.Arg483=)
c.*714G= (n.*714G=)
c.1445G= (p.Arg482=)
c.1508G= (p.Arg503=)
n.441G=
c.1511G= (p.Arg504=)
c.1439G= (p.Arg480=)
c.1403G= (p.Arg468=)
c.1400G= (p.Arg467=)
c.830G= (p.Arg277=)
n.1772-2900C=
c.1355G= (p.Arg452=)
c.863G= (p.Arg288=)
2g.27364524C>GCA346196658EIF2B4,GTF3C2-AS2c.1448G>C (p.Arg483Pro)
c.*714G>C (n.*714G>C)
c.1445G>C (p.Arg482Pro)
c.1508G>C (p.Arg503Pro)
n.441G>C
c.1511G>C (p.Arg504Pro)
c.1439G>C (p.Arg480Pro)
c.1403G>C (p.Arg468Pro)
c.1400G>C (p.Arg467Pro)
c.830G>C (p.Arg277Pro)
n.1772-2900C>G
c.1355G>C (p.Arg452Pro)
c.863G>C (p.Arg288Pro)
2g.27364524C>TCA1576569EIF2B4,GTF3C2-AS2c.1448G>A (p.Arg483Gln)
c.*714G>A (n.*714G>A)
c.1445G>A (p.Arg482Gln)
c.1508G>A (p.Arg503Gln)
n.441G>A
c.1511G>A (p.Arg504Gln)
c.1439G>A (p.Arg480Gln)
c.1403G>A (p.Arg468Gln)
c.1400G>A (p.Arg467Gln)
c.830G>A (p.Arg277Gln)
n.1772-2900C>T
c.1355G>A (p.Arg452Gln)
c.863G>A (p.Arg288Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364525G>ACA44509202EIF2B4,GTF3C2-AS2c.1447C>T (p.Arg483Trp)
c.*713C>T (n.*713C>T)
c.1444C>T (p.Arg482Trp)
c.1507C>T (p.Arg503Trp)
n.440C>T
c.1510C>T (p.Arg504Trp)
c.1438C>T (p.Arg480Trp)
c.1402C>T (p.Arg468Trp)
c.1399C>T (p.Arg467Trp)
c.829C>T (p.Arg277Trp)
n.1772-2899G>A
c.1354C>T (p.Arg452Trp)
c.862C>T (p.Arg288Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.27364525G>CCA346196659EIF2B4,GTF3C2-AS2c.1447C>G (p.Arg483Gly)
c.*713C>G (n.*713C>G)
c.1444C>G (p.Arg482Gly)
c.1507C>G (p.Arg503Gly)
n.440C>G
c.1510C>G (p.Arg504Gly)
c.1438C>G (p.Arg480Gly)
c.1402C>G (p.Arg468Gly)
c.1399C>G (p.Arg467Gly)
c.829C>G (p.Arg277Gly)
n.1772-2899G>C
c.1354C>G (p.Arg452Gly)
c.862C>G (p.Arg288Gly)
2g.27364525G=CA1240242815EIF2B4,GTF3C2-AS2c.1447C= (p.Arg483=)
c.*713C= (n.*713C=)
c.1444C= (p.Arg482=)
c.1507C= (p.Arg503=)
n.440C=
c.1510C= (p.Arg504=)
c.1438C= (p.Arg480=)
c.1402C= (p.Arg468=)
c.1399C= (p.Arg467=)
c.829C= (p.Arg277=)
n.1772-2899G=
c.1354C= (p.Arg452=)
c.862C= (p.Arg288=)
2g.27364525G>TCA425409783EIF2B4,GTF3C2-AS2c.1447C>A (p.Arg483=)
c.*713C>A (n.*713C>A)
c.1444C>A (p.Arg482=)
c.1507C>A (p.Arg503=)
n.440C>A
c.1510C>A (p.Arg504=)
c.1438C>A (p.Arg480=)
c.1402C>A (p.Arg468=)
c.1399C>A (p.Arg467=)
c.829C>A (p.Arg277=)
n.1772-2899G>T
c.1354C>A (p.Arg452=)
c.862C>A (p.Arg288=)
 gnomAD v4
2g.27364526T>ACA425409784EIF2B4,GTF3C2-AS2c.1446A>T (p.Leu482=)
c.*712A>T (n.*712A>T)
c.1443A>T (p.Leu481=)
c.1506A>T (p.Leu502=)
n.439A>T
c.1509A>T (p.Leu503=)
c.1437A>T (p.Leu479=)
c.1401A>T (p.Leu467=)
c.1398A>T (p.Leu466=)
c.828A>T (p.Leu276=)
n.1772-2898T>A
c.1353A>T (p.Leu451=)
c.861A>T (p.Leu287=)
2g.27364526T>CCA425409785EIF2B4,GTF3C2-AS2c.1446A>G (p.Leu482=)
c.*712A>G (n.*712A>G)
c.1443A>G (p.Leu481=)
c.1506A>G (p.Leu502=)
n.439A>G
c.1509A>G (p.Leu503=)
c.1437A>G (p.Leu479=)
c.1401A>G (p.Leu467=)
c.1398A>G (p.Leu466=)
c.828A>G (p.Leu276=)
n.1772-2898T>C
c.1353A>G (p.Leu451=)
c.861A>G (p.Leu287=)
 gnomAD v4
2g.27364526T>GCA425409786EIF2B4,GTF3C2-AS2c.1446A>C (p.Leu482=)
c.*712A>C (n.*712A>C)
c.1443A>C (p.Leu481=)
c.1506A>C (p.Leu502=)
n.439A>C
c.1509A>C (p.Leu503=)
c.1437A>C (p.Leu479=)
c.1401A>C (p.Leu467=)
c.1398A>C (p.Leu466=)
c.828A>C (p.Leu276=)
n.1772-2898T>G
c.1353A>C (p.Leu451=)
c.861A>C (p.Leu287=)
2g.27364527A>CCA346196662EIF2B4,GTF3C2-AS2c.1445T>G (p.Leu482Arg)
c.*711T>G (n.*711T>G)
c.1442T>G (p.Leu481Arg)
c.1505T>G (p.Leu502Arg)
n.438T>G
c.1508T>G (p.Leu503Arg)
c.1436T>G (p.Leu479Arg)
c.1400T>G (p.Leu467Arg)
c.1397T>G (p.Leu466Arg)
c.827T>G (p.Leu276Arg)
n.1772-2897A>C
c.1352T>G (p.Leu451Arg)
c.860T>G (p.Leu287Arg)
2g.27364527A>GCA346196660EIF2B4,GTF3C2-AS2c.1445T>C (p.Leu482Pro)
c.*711T>C (n.*711T>C)
c.1442T>C (p.Leu481Pro)
c.1505T>C (p.Leu502Pro)
n.438T>C
c.1508T>C (p.Leu503Pro)
c.1436T>C (p.Leu479Pro)
c.1400T>C (p.Leu467Pro)
c.1397T>C (p.Leu466Pro)
c.827T>C (p.Leu276Pro)
n.1772-2897A>G
c.1352T>C (p.Leu451Pro)
c.860T>C (p.Leu287Pro)
2g.27364527A>TCA346196661EIF2B4,GTF3C2-AS2c.1445T>A (p.Leu482Gln)
c.*711T>A (n.*711T>A)
c.1442T>A (p.Leu481Gln)
c.1505T>A (p.Leu502Gln)
n.438T>A
c.1508T>A (p.Leu503Gln)
c.1436T>A (p.Leu479Gln)
c.1400T>A (p.Leu467Gln)
c.1397T>A (p.Leu466Gln)
c.827T>A (p.Leu276Gln)
n.1772-2897A>T
c.1352T>A (p.Leu451Gln)
c.860T>A (p.Leu287Gln)
2g.27364528G>ACA425409787EIF2B4,GTF3C2-AS2c.1444C>T (p.Leu482=)
c.*710C>T (n.*710C>T)
c.1441C>T (p.Leu481=)
c.1504C>T (p.Leu502=)
n.437C>T
c.1507C>T (p.Leu503=)
c.1435C>T (p.Leu479=)
c.1399C>T (p.Leu467=)
c.1396C>T (p.Leu466=)
c.826C>T (p.Leu276=)
n.1772-2896G>A
c.1351C>T (p.Leu451=)
c.859C>T (p.Leu287=)
2g.27364528G>CCA346196663EIF2B4,GTF3C2-AS2c.1444C>G (p.Leu482Val)
c.*710C>G (n.*710C>G)
c.1441C>G (p.Leu481Val)
c.1504C>G (p.Leu502Val)
n.437C>G
c.1507C>G (p.Leu503Val)
c.1435C>G (p.Leu479Val)
c.1399C>G (p.Leu467Val)
c.1396C>G (p.Leu466Val)
c.826C>G (p.Leu276Val)
n.1772-2896G>C
c.1351C>G (p.Leu451Val)
c.859C>G (p.Leu287Val)
 gnomAD v4
2g.27364528G>TCA346196664EIF2B4,GTF3C2-AS2c.1444C>A (p.Leu482Ile)
c.*710C>A (n.*710C>A)
c.1441C>A (p.Leu481Ile)
c.1504C>A (p.Leu502Ile)
n.437C>A
c.1507C>A (p.Leu503Ile)
c.1435C>A (p.Leu479Ile)
c.1399C>A (p.Leu467Ile)
c.1396C>A (p.Leu466Ile)
c.826C>A (p.Leu276Ile)
n.1772-2896G>T
c.1351C>A (p.Leu451Ile)
c.859C>A (p.Leu287Ile)
2g.27364529G>ACA425409788EIF2B4,GTF3C2-AS2c.1443C>T (p.Ser481=)
c.*709C>T (n.*709C>T)
c.1440C>T (p.Ser480=)
c.1503C>T (p.Ser501=)
n.436C>T
c.1506C>T (p.Ser502=)
c.1434C>T (p.Ser478=)
c.1398C>T (p.Ser466=)
c.1395C>T (p.Ser465=)
c.825C>T (p.Ser275=)
n.1772-2895G>A
c.1350C>T (p.Ser450=)
c.858C>T (p.Ser286=)
2g.27364529G>CCA425409789EIF2B4,GTF3C2-AS2c.1443C>G (p.Ser481=)
c.*709C>G (n.*709C>G)
c.1440C>G (p.Ser480=)
c.1503C>G (p.Ser501=)
n.436C>G
c.1506C>G (p.Ser502=)
c.1434C>G (p.Ser478=)
c.1398C>G (p.Ser466=)
c.1395C>G (p.Ser465=)
c.825C>G (p.Ser275=)
n.1772-2895G>C
c.1350C>G (p.Ser450=)
c.858C>G (p.Ser286=)
2g.27364529G>TCA425409790EIF2B4,GTF3C2-AS2c.1443C>A (p.Ser481=)
c.*709C>A (n.*709C>A)
c.1440C>A (p.Ser480=)
c.1503C>A (p.Ser501=)
n.436C>A
c.1506C>A (p.Ser502=)
c.1434C>A (p.Ser478=)
c.1398C>A (p.Ser466=)
c.1395C>A (p.Ser465=)
c.825C>A (p.Ser275=)
n.1772-2895G>T
c.1350C>A (p.Ser450=)
c.858C>A (p.Ser286=)
2g.27364530G>ACA346196665EIF2B4,GTF3C2-AS2c.1442C>T (p.Ser481Phe)
c.*708C>T (n.*708C>T)
c.1439C>T (p.Ser480Phe)
c.1502C>T (p.Ser501Phe)
n.435C>T
c.1505C>T (p.Ser502Phe)
c.1433C>T (p.Ser478Phe)
c.1397C>T (p.Ser466Phe)
c.1394C>T (p.Ser465Phe)
c.824C>T (p.Ser275Phe)
n.1772-2894G>A
c.1349C>T (p.Ser450Phe)
c.857C>T (p.Ser286Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.27364530G>CCA1576570EIF2B4,GTF3C2-AS2c.1442C>G (p.Ser481Cys)
c.*708C>G (n.*708C>G)
c.1439C>G (p.Ser480Cys)
c.1502C>G (p.Ser501Cys)
n.435C>G
c.1505C>G (p.Ser502Cys)
c.1433C>G (p.Ser478Cys)
c.1397C>G (p.Ser466Cys)
c.1394C>G (p.Ser465Cys)
c.824C>G (p.Ser275Cys)
n.1772-2894G>C
c.1349C>G (p.Ser450Cys)
c.857C>G (p.Ser286Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364530G=CA1240242816EIF2B4,GTF3C2-AS2c.1442C= (p.Ser481=)
c.*708C= (n.*708C=)
c.1439C= (p.Ser480=)
c.1502C= (p.Ser501=)
n.435C=
c.1505C= (p.Ser502=)
c.1433C= (p.Ser478=)
c.1397C= (p.Ser466=)
c.1394C= (p.Ser465=)
c.824C= (p.Ser275=)
n.1772-2894G=
c.1349C= (p.Ser450=)
c.857C= (p.Ser286=)
2g.27364530G>TCA346196666EIF2B4,GTF3C2-AS2c.1442C>A (p.Ser481Tyr)
c.*708C>A (n.*708C>A)
c.1439C>A (p.Ser480Tyr)
c.1502C>A (p.Ser501Tyr)
n.435C>A
c.1505C>A (p.Ser502Tyr)
c.1433C>A (p.Ser478Tyr)
c.1397C>A (p.Ser466Tyr)
c.1394C>A (p.Ser465Tyr)
c.824C>A (p.Ser275Tyr)
n.1772-2894G>T
c.1349C>A (p.Ser450Tyr)
c.857C>A (p.Ser286Tyr)
2g.27364531A>CCA346196667EIF2B4,GTF3C2-AS2c.1441T>G (p.Ser481Ala)
c.*707T>G (n.*707T>G)
c.1438T>G (p.Ser480Ala)
c.1501T>G (p.Ser501Ala)
n.434T>G
c.1504T>G (p.Ser502Ala)
c.1432T>G (p.Ser478Ala)
c.1396T>G (p.Ser466Ala)
c.1393T>G (p.Ser465Ala)
c.823T>G (p.Ser275Ala)
n.1772-2893A>C
c.1348T>G (p.Ser450Ala)
c.856T>G (p.Ser286Ala)
2g.27364531A>GCA346196668EIF2B4,GTF3C2-AS2c.1441T>C (p.Ser481Pro)
c.*707T>C (n.*707T>C)
c.1438T>C (p.Ser480Pro)
c.1501T>C (p.Ser501Pro)
n.434T>C
c.1504T>C (p.Ser502Pro)
c.1432T>C (p.Ser478Pro)
c.1396T>C (p.Ser466Pro)
c.1393T>C (p.Ser465Pro)
c.823T>C (p.Ser275Pro)
n.1772-2893A>G
c.1348T>C (p.Ser450Pro)
c.856T>C (p.Ser286Pro)
 gnomAD v4
2g.27364531A>TCA346196669EIF2B4,GTF3C2-AS2c.1441T>A (p.Ser481Thr)
c.*707T>A (n.*707T>A)
c.1438T>A (p.Ser480Thr)
c.1501T>A (p.Ser501Thr)
n.434T>A
c.1504T>A (p.Ser502Thr)
c.1432T>A (p.Ser478Thr)
c.1396T>A (p.Ser466Thr)
c.1393T>A (p.Ser465Thr)
c.823T>A (p.Ser275Thr)
n.1772-2893A>T
c.1348T>A (p.Ser450Thr)
c.856T>A (p.Ser286Thr)
 COSMIC
2g.27364532T>ACA425409791EIF2B4,GTF3C2-AS2c.1440A>T (p.Ala480=)
c.*706A>T (n.*706A>T)
c.1437A>T (p.Ala479=)
c.1500A>T (p.Ala500=)
n.433A>T
c.1503A>T (p.Ala501=)
c.1431A>T (p.Ala477=)
c.1395A>T (p.Ala465=)
c.1392A>T (p.Ala464=)
c.822A>T (p.Ala274=)
n.1772-2892T>A
c.1347A>T (p.Ala449=)
c.855A>T (p.Ala285=)
2g.27364532T>CCA425409792EIF2B4,GTF3C2-AS2c.1440A>G (p.Ala480=)
c.*706A>G (n.*706A>G)
c.1437A>G (p.Ala479=)
c.1500A>G (p.Ala500=)
n.433A>G
c.1503A>G (p.Ala501=)
c.1431A>G (p.Ala477=)
c.1395A>G (p.Ala465=)
c.1392A>G (p.Ala464=)
c.822A>G (p.Ala274=)
n.1772-2892T>C
c.1347A>G (p.Ala449=)
c.855A>G (p.Ala285=)
 ClinVar gnomAD v4
2g.27364532T>GCA425409793EIF2B4,GTF3C2-AS2c.1440A>C (p.Ala480=)
c.*706A>C (n.*706A>C)
c.1437A>C (p.Ala479=)
c.1500A>C (p.Ala500=)
n.433A>C
c.1503A>C (p.Ala501=)
c.1431A>C (p.Ala477=)
c.1395A>C (p.Ala465=)
c.1392A>C (p.Ala464=)
c.822A>C (p.Ala274=)
n.1772-2892T>G
c.1347A>C (p.Ala449=)
c.855A>C (p.Ala285=)
2g.27364533G>ACA44509227EIF2B4,GTF3C2-AS2c.1439C>T (p.Ala480Val)
c.*705C>T (n.*705C>T)
c.1436C>T (p.Ala479Val)
c.1499C>T (p.Ala500Val)
n.432C>T
c.1502C>T (p.Ala501Val)
c.1430C>T (p.Ala477Val)
c.1394C>T (p.Ala465Val)
c.1391C>T (p.Ala464Val)
c.821C>T (p.Ala274Val)
n.1772-2891G>A
c.1346C>T (p.Ala449Val)
c.854C>T (p.Ala285Val)
 dbSNP gnomAD v4
2g.27364533G>CCA44509233EIF2B4,GTF3C2-AS2c.1439C>G (p.Ala480Gly)
c.*705C>G (n.*705C>G)
c.1436C>G (p.Ala479Gly)
c.1499C>G (p.Ala500Gly)
n.432C>G
c.1502C>G (p.Ala501Gly)
c.1430C>G (p.Ala477Gly)
c.1394C>G (p.Ala465Gly)
c.1391C>G (p.Ala464Gly)
c.821C>G (p.Ala274Gly)
n.1772-2891G>C
c.1346C>G (p.Ala449Gly)
c.854C>G (p.Ala285Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27364533G=CA1240242817EIF2B4,GTF3C2-AS2c.1439C= (p.Ala480=)
c.*705C= (n.*705C=)
c.1436C= (p.Ala479=)
c.1499C= (p.Ala500=)
n.432C=
c.1502C= (p.Ala501=)
c.1430C= (p.Ala477=)
c.1394C= (p.Ala465=)
c.1391C= (p.Ala464=)
c.821C= (p.Ala274=)
n.1772-2891G=
c.1346C= (p.Ala449=)
c.854C= (p.Ala285=)
2g.27364533G>TCA346196670EIF2B4,GTF3C2-AS2c.1439C>A (p.Ala480Glu)
c.*705C>A (n.*705C>A)
c.1436C>A (p.Ala479Glu)
c.1499C>A (p.Ala500Glu)
n.432C>A
c.1502C>A (p.Ala501Glu)
c.1430C>A (p.Ala477Glu)
c.1394C>A (p.Ala465Glu)
c.1391C>A (p.Ala464Glu)
c.821C>A (p.Ala274Glu)
n.1772-2891G>T
c.1346C>A (p.Ala449Glu)
c.854C>A (p.Ala285Glu)
 dbSNP gnomAD v4
2g.27364534C>ACA346196672EIF2B4,GTF3C2-AS2c.1438G>T (p.Ala480Ser)
c.*704G>T (n.*704G>T)
c.1435G>T (p.Ala479Ser)
c.1498G>T (p.Ala500Ser)
n.431G>T
c.1501G>T (p.Ala501Ser)
c.1429G>T (p.Ala477Ser)
c.1393G>T (p.Ala465Ser)
c.1390G>T (p.Ala464Ser)
c.820G>T (p.Ala274Ser)
n.1772-2890C>A
c.1345G>T (p.Ala449Ser)
c.853G>T (p.Ala285Ser)
2g.27364534C=CA1240242818EIF2B4,GTF3C2-AS2c.1438G= (p.Ala480=)
c.*704G= (n.*704G=)
c.1435G= (p.Ala479=)
c.1498G= (p.Ala500=)
n.431G=
c.1501G= (p.Ala501=)
c.1429G= (p.Ala477=)
c.1393G= (p.Ala465=)
c.1390G= (p.Ala464=)
c.820G= (p.Ala274=)
n.1772-2890C=
c.1345G= (p.Ala449=)
c.853G= (p.Ala285=)
2g.27364534C>GCA346196671EIF2B4,GTF3C2-AS2c.1438G>C (p.Ala480Pro)
c.*704G>C (n.*704G>C)
c.1435G>C (p.Ala479Pro)
c.1498G>C (p.Ala500Pro)
n.431G>C
c.1501G>C (p.Ala501Pro)
c.1429G>C (p.Ala477Pro)
c.1393G>C (p.Ala465Pro)
c.1390G>C (p.Ala464Pro)
c.820G>C (p.Ala274Pro)
n.1772-2890C>G
c.1345G>C (p.Ala449Pro)
c.853G>C (p.Ala285Pro)
2g.27364534C>TCA1576571EIF2B4,GTF3C2-AS2c.1438G>A (p.Ala480Thr)
c.*704G>A (n.*704G>A)
c.1435G>A (p.Ala479Thr)
c.1498G>A (p.Ala500Thr)
n.431G>A
c.1501G>A (p.Ala501Thr)
c.1429G>A (p.Ala477Thr)
c.1393G>A (p.Ala465Thr)
c.1390G>A (p.Ala464Thr)
c.820G>A (p.Ala274Thr)
n.1772-2890C>T
c.1345G>A (p.Ala449Thr)
c.853G>A (p.Ala285Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364535G>ACA425409794EIF2B4,GTF3C2-AS2c.1437C>T (p.His479=)
c.*703C>T (n.*703C>T)
c.1434C>T (p.His478=)
c.1497C>T (p.His499=)
n.430C>T
c.1500C>T (p.His500=)
c.1428C>T (p.His476=)
c.1392C>T (p.His464=)
c.1389C>T (p.His463=)
c.819C>T (p.His273=)
n.1772-2889G>A
c.1344C>T (p.His448=)
c.852C>T (p.His284=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.27364535G>CCA346196673EIF2B4,GTF3C2-AS2c.1437C>G (p.His479Gln)
c.*703C>G (n.*703C>G)
c.1434C>G (p.His478Gln)
c.1497C>G (p.His499Gln)
n.430C>G
c.1500C>G (p.His500Gln)
c.1428C>G (p.His476Gln)
c.1392C>G (p.His464Gln)
c.1389C>G (p.His463Gln)
c.819C>G (p.His273Gln)
n.1772-2889G>C
c.1344C>G (p.His448Gln)
c.852C>G (p.His284Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.27364535G=CA1240242819EIF2B4,GTF3C2-AS2c.1437C= (p.His479=)
c.*703C= (n.*703C=)
c.1434C= (p.His478=)
c.1497C= (p.His499=)
n.430C=
c.1500C= (p.His500=)
c.1428C= (p.His476=)
c.1392C= (p.His464=)
c.1389C= (p.His463=)
c.819C= (p.His273=)
n.1772-2889G=
c.1344C= (p.His448=)
c.852C= (p.His284=)
2g.27364535G>TCA346196674EIF2B4,GTF3C2-AS2c.1437C>A (p.His479Gln)
c.*703C>A (n.*703C>A)
c.1434C>A (p.His478Gln)
c.1497C>A (p.His499Gln)
n.430C>A
c.1500C>A (p.His500Gln)
c.1428C>A (p.His476Gln)
c.1392C>A (p.His464Gln)
c.1389C>A (p.His463Gln)
c.819C>A (p.His273Gln)
n.1772-2889G>T
c.1344C>A (p.His448Gln)
c.852C>A (p.His284Gln)
2g.27364536T>ACA346196675EIF2B4,GTF3C2-AS2c.1436A>T (p.His479Leu)
c.*702A>T (n.*702A>T)
c.1433A>T (p.His478Leu)
c.1496A>T (p.His499Leu)
n.429A>T
c.1499A>T (p.His500Leu)
c.1427A>T (p.His476Leu)
c.1391A>T (p.His464Leu)
c.1388A>T (p.His463Leu)
c.818A>T (p.His273Leu)
n.1772-2888T>A
c.1343A>T (p.His448Leu)
c.851A>T (p.His284Leu)
2g.27364536T>CCA346196676EIF2B4,GTF3C2-AS2c.1436A>G (p.His479Arg)
c.*702A>G (n.*702A>G)
c.1433A>G (p.His478Arg)
c.1496A>G (p.His499Arg)
n.429A>G
c.1499A>G (p.His500Arg)
c.1427A>G (p.His476Arg)
c.1391A>G (p.His464Arg)
c.1388A>G (p.His463Arg)
c.818A>G (p.His273Arg)
n.1772-2888T>C
c.1343A>G (p.His448Arg)
c.851A>G (p.His284Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.27364536T>GCA346196677EIF2B4,GTF3C2-AS2c.1436A>C (p.His479Pro)
c.*702A>C (n.*702A>C)
c.1433A>C (p.His478Pro)
c.1496A>C (p.His499Pro)
n.429A>C
c.1499A>C (p.His500Pro)
c.1427A>C (p.His476Pro)
c.1391A>C (p.His464Pro)
c.1388A>C (p.His463Pro)
c.818A>C (p.His273Pro)
n.1772-2888T>G
c.1343A>C (p.His448Pro)
c.851A>C (p.His284Pro)
2g.27364536T=CA1240242820EIF2B4,GTF3C2-AS2c.1436A= (p.His479=)
c.*702A= (n.*702A=)
c.1433A= (p.His478=)
c.1496A= (p.His499=)
n.429A=
c.1499A= (p.His500=)
c.1427A= (p.His476=)
c.1391A= (p.His464=)
c.1388A= (p.His463=)
c.818A= (p.His273=)
n.1772-2888T=
c.1343A= (p.His448=)
c.851A= (p.His284=)
2g.27364537G>ACA346196678EIF2B4,GTF3C2-AS2c.1435C>T (p.His479Tyr)
c.*701C>T (n.*701C>T)
c.1432C>T (p.His478Tyr)
c.1495C>T (p.His499Tyr)
n.428C>T
c.1498C>T (p.His500Tyr)
c.1426C>T (p.His476Tyr)
c.1390C>T (p.His464Tyr)
c.1387C>T (p.His463Tyr)
c.817C>T (p.His273Tyr)
n.1772-2887G>A
c.1342C>T (p.His448Tyr)
c.850C>T (p.His284Tyr)
2g.27364537G>CCA346196679EIF2B4,GTF3C2-AS2c.1435C>G (p.His479Asp)
c.*701C>G (n.*701C>G)
c.1432C>G (p.His478Asp)
c.1495C>G (p.His499Asp)
n.428C>G
c.1498C>G (p.His500Asp)
c.1426C>G (p.His476Asp)
c.1390C>G (p.His464Asp)
c.1387C>G (p.His463Asp)
c.817C>G (p.His273Asp)
n.1772-2887G>C
c.1342C>G (p.His448Asp)
c.850C>G (p.His284Asp)
2g.27364537G>TCA346196680EIF2B4,GTF3C2-AS2c.1435C>A (p.His479Asn)
c.*701C>A (n.*701C>A)
c.1432C>A (p.His478Asn)
c.1495C>A (p.His499Asn)
n.428C>A
c.1498C>A (p.His500Asn)
c.1426C>A (p.His476Asn)
c.1390C>A (p.His464Asn)
c.1387C>A (p.His463Asn)
c.817C>A (p.His273Asn)
n.1772-2887G>T
c.1342C>A (p.His448Asn)
c.850C>A (p.His284Asn)
2g.27364538G>ACA425409795EIF2B4,GTF3C2-AS2c.1434C>T (p.Asn478=)
c.*700C>T (n.*700C>T)
c.1431C>T (p.Asn477=)
c.1494C>T (p.Asn498=)
n.427C>T
c.1497C>T (p.Asn499=)
c.1425C>T (p.Asn475=)
c.1389C>T (p.Asn463=)
c.1386C>T (p.Asn462=)
c.816C>T (p.Asn272=)
n.1772-2886G>A
c.1341C>T (p.Asn447=)
c.849C>T (p.Asn283=)
 COSMIC COSMIC
2g.27364538G>CCA346196681EIF2B4,GTF3C2-AS2c.1434C>G (p.Asn478Lys)
c.*700C>G (n.*700C>G)
c.1431C>G (p.Asn477Lys)
c.1494C>G (p.Asn498Lys)
n.427C>G
c.1497C>G (p.Asn499Lys)
c.1425C>G (p.Asn475Lys)
c.1389C>G (p.Asn463Lys)
c.1386C>G (p.Asn462Lys)
c.816C>G (p.Asn272Lys)
n.1772-2886G>C
c.1341C>G (p.Asn447Lys)
c.849C>G (p.Asn283Lys)
2g.27364538G>TCA346196682EIF2B4,GTF3C2-AS2c.1434C>A (p.Asn478Lys)
c.*700C>A (n.*700C>A)
c.1431C>A (p.Asn477Lys)
c.1494C>A (p.Asn498Lys)
n.427C>A
c.1497C>A (p.Asn499Lys)
c.1425C>A (p.Asn475Lys)
c.1389C>A (p.Asn463Lys)
c.1386C>A (p.Asn462Lys)
c.816C>A (p.Asn272Lys)
n.1772-2886G>T
c.1341C>A (p.Asn447Lys)
c.849C>A (p.Asn283Lys)
2g.27364539T>ACA346196683EIF2B4,GTF3C2-AS2c.1433A>T (p.Asn478Ile)
c.*699A>T (n.*699A>T)
c.1430A>T (p.Asn477Ile)
c.1493A>T (p.Asn498Ile)
n.426A>T
c.1496A>T (p.Asn499Ile)
c.1424A>T (p.Asn475Ile)
c.1388A>T (p.Asn463Ile)
c.1385A>T (p.Asn462Ile)
c.815A>T (p.Asn272Ile)
n.1772-2885T>A
c.1340A>T (p.Asn447Ile)
c.848A>T (p.Asn283Ile)
2g.27364539T>CCA346196684EIF2B4,GTF3C2-AS2c.1433A>G (p.Asn478Ser)
c.*699A>G (n.*699A>G)
c.1430A>G (p.Asn477Ser)
c.1493A>G (p.Asn498Ser)
n.426A>G
c.1496A>G (p.Asn499Ser)
c.1424A>G (p.Asn475Ser)
c.1388A>G (p.Asn463Ser)
c.1385A>G (p.Asn462Ser)
c.815A>G (p.Asn272Ser)
n.1772-2885T>C
c.1340A>G (p.Asn447Ser)
c.848A>G (p.Asn283Ser)
 gnomAD v4
2g.27364539T>GCA346196685EIF2B4,GTF3C2-AS2c.1433A>C (p.Asn478Thr)
c.*699A>C (n.*699A>C)
c.1430A>C (p.Asn477Thr)
c.1493A>C (p.Asn498Thr)
n.426A>C
c.1496A>C (p.Asn499Thr)
c.1424A>C (p.Asn475Thr)
c.1388A>C (p.Asn463Thr)
c.1385A>C (p.Asn462Thr)
c.815A>C (p.Asn272Thr)
n.1772-2885T>G
c.1340A>C (p.Asn447Thr)
c.848A>C (p.Asn283Thr)
2g.27364540T>ACA346196688EIF2B4,GTF3C2-AS2c.1432A>T (p.Asn478Tyr)
c.*698A>T (n.*698A>T)
c.1429A>T (p.Asn477Tyr)
c.1492A>T (p.Asn498Tyr)
n.425A>T
c.1495A>T (p.Asn499Tyr)
c.1423A>T (p.Asn475Tyr)
c.1387A>T (p.Asn463Tyr)
c.1384A>T (p.Asn462Tyr)
c.814A>T (p.Asn272Tyr)
n.1772-2884T>A
c.1339A>T (p.Asn447Tyr)
c.847A>T (p.Asn283Tyr)
2g.27364540T>CCA346196686EIF2B4,GTF3C2-AS2c.1432A>G (p.Asn478Asp)
c.*698A>G (n.*698A>G)
c.1429A>G (p.Asn477Asp)
c.1492A>G (p.Asn498Asp)
n.425A>G
c.1495A>G (p.Asn499Asp)
c.1423A>G (p.Asn475Asp)
c.1387A>G (p.Asn463Asp)
c.1384A>G (p.Asn462Asp)
c.814A>G (p.Asn272Asp)
n.1772-2884T>C
c.1339A>G (p.Asn447Asp)
c.847A>G (p.Asn283Asp)
2g.27364540T>GCA346196687EIF2B4,GTF3C2-AS2c.1432A>C (p.Asn478His)
c.*698A>C (n.*698A>C)
c.1429A>C (p.Asn477His)
c.1492A>C (p.Asn498His)
n.425A>C
c.1495A>C (p.Asn499His)
c.1423A>C (p.Asn475His)
c.1387A>C (p.Asn463His)
c.1384A>C (p.Asn462His)
c.814A>C (p.Asn272His)
n.1772-2884T>G
c.1339A>C (p.Asn447His)
c.847A>C (p.Asn283His)
2g.27364541C>ACA346196689EIF2B4,GTF3C2-AS2c.1431G>T (p.Gln477His)
c.*697G>T (n.*697G>T)
c.1428G>T (p.Gln476His)
c.1491G>T (p.Gln497His)
n.424G>T
c.1494G>T (p.Gln498His)
c.1422G>T (p.Gln474His)
c.1386G>T (p.Gln462His)
c.1383G>T (p.Gln461His)
c.813G>T (p.Gln271His)
n.1772-2883C>A
c.1338G>T (p.Gln446His)
c.846G>T (p.Gln282His)
2g.27364541C=CA1240242821EIF2B4,GTF3C2-AS2c.1431G= (p.Gln477=)
c.*697G= (n.*697G=)
c.1428G= (p.Gln476=)
c.1491G= (p.Gln497=)
n.424G=
c.1494G= (p.Gln498=)
c.1422G= (p.Gln474=)
c.1386G= (p.Gln462=)
c.1383G= (p.Gln461=)
c.813G= (p.Gln271=)
n.1772-2883C=
c.1338G= (p.Gln446=)
c.846G= (p.Gln282=)
2g.27364541C>GCA1576572EIF2B4,GTF3C2-AS2c.1431G>C (p.Gln477His)
c.*697G>C (n.*697G>C)
c.1428G>C (p.Gln476His)
c.1491G>C (p.Gln497His)
n.424G>C
c.1494G>C (p.Gln498His)
c.1422G>C (p.Gln474His)
c.1386G>C (p.Gln462His)
c.1383G>C (p.Gln461His)
c.813G>C (p.Gln271His)
n.1772-2883C>G
c.1338G>C (p.Gln446His)
c.846G>C (p.Gln282His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364541C>TCA425409796EIF2B4,GTF3C2-AS2c.1431G>A (p.Gln477=)
c.*697G>A (n.*697G>A)
c.1428G>A (p.Gln476=)
c.1491G>A (p.Gln497=)
n.424G>A
c.1494G>A (p.Gln498=)
c.1422G>A (p.Gln474=)
c.1386G>A (p.Gln462=)
c.1383G>A (p.Gln461=)
c.813G>A (p.Gln271=)
n.1772-2883C>T
c.1338G>A (p.Gln446=)
c.846G>A (p.Gln282=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27364542T>ACA346196690EIF2B4,GTF3C2-AS2c.1430A>T (p.Gln477Leu)
c.*696A>T (n.*696A>T)
c.1427A>T (p.Gln476Leu)
c.1490A>T (p.Gln497Leu)
n.423A>T
c.1493A>T (p.Gln498Leu)
c.1421A>T (p.Gln474Leu)
c.1385A>T (p.Gln462Leu)
c.1382A>T (p.Gln461Leu)
c.812A>T (p.Gln271Leu)
n.1772-2882T>A
c.1337A>T (p.Gln446Leu)
c.845A>T (p.Gln282Leu)
2g.27364542T>CCA346196691EIF2B4,GTF3C2-AS2c.1430A>G (p.Gln477Arg)
c.*696A>G (n.*696A>G)
c.1427A>G (p.Gln476Arg)
c.1490A>G (p.Gln497Arg)
n.423A>G
c.1493A>G (p.Gln498Arg)
c.1421A>G (p.Gln474Arg)
c.1385A>G (p.Gln462Arg)
c.1382A>G (p.Gln461Arg)
c.812A>G (p.Gln271Arg)
n.1772-2882T>C
c.1337A>G (p.Gln446Arg)
c.845A>G (p.Gln282Arg)
 gnomAD v4
2g.27364542T>GCA346196692EIF2B4,GTF3C2-AS2c.1430A>C (p.Gln477Pro)
c.*696A>C (n.*696A>C)
c.1427A>C (p.Gln476Pro)
c.1490A>C (p.Gln497Pro)
n.423A>C
c.1493A>C (p.Gln498Pro)
c.1421A>C (p.Gln474Pro)
c.1385A>C (p.Gln462Pro)
c.1382A>C (p.Gln461Pro)
c.812A>C (p.Gln271Pro)
n.1772-2882T>G
c.1337A>C (p.Gln446Pro)
c.845A>C (p.Gln282Pro)
2g.27364543G>ACA346196693EIF2B4,GTF3C2-AS2c.1429C>T (p.Gln477Ter)
c.*695C>T (n.*695C>T)
c.1426C>T (p.Gln476Ter)
c.1489C>T (p.Gln497Ter)
n.422C>T
c.1492C>T (p.Gln498Ter)
c.1420C>T (p.Gln474Ter)
c.1384C>T (p.Gln462Ter)
c.1381C>T (p.Gln461Ter)
c.811C>T (p.Gln271Ter)
n.1772-2881G>A
c.1336C>T (p.Gln446Ter)
c.844C>T (p.Gln282Ter)
2g.27364543G>CCA346196694EIF2B4,GTF3C2-AS2c.1429C>G (p.Gln477Glu)
c.*695C>G (n.*695C>G)
c.1426C>G (p.Gln476Glu)
c.1489C>G (p.Gln497Glu)
n.422C>G
c.1492C>G (p.Gln498Glu)
c.1420C>G (p.Gln474Glu)
c.1384C>G (p.Gln462Glu)
c.1381C>G (p.Gln461Glu)
c.811C>G (p.Gln271Glu)
n.1772-2881G>C
c.1336C>G (p.Gln446Glu)
c.844C>G (p.Gln282Glu)
 gnomAD v4
2g.27364543G>TCA346196695EIF2B4,GTF3C2-AS2c.1429C>A (p.Gln477Lys)
c.*695C>A (n.*695C>A)
c.1426C>A (p.Gln476Lys)
c.1489C>A (p.Gln497Lys)
n.422C>A
c.1492C>A (p.Gln498Lys)
c.1420C>A (p.Gln474Lys)
c.1384C>A (p.Gln462Lys)
c.1381C>A (p.Gln461Lys)
c.811C>A (p.Gln271Lys)
n.1772-2881G>T
c.1336C>A (p.Gln446Lys)
c.844C>A (p.Gln282Lys)
2g.27364544C>ACA346196696EIF2B4,GTF3C2-AS2c.1428G>T (p.Trp476Cys)
c.*694G>T (n.*694G>T)
c.1425G>T (p.Trp475Cys)
c.1488G>T (p.Trp496Cys)
n.421G>T
c.1491G>T (p.Trp497Cys)
c.1419G>T (p.Trp473Cys)
c.1383G>T (p.Trp461Cys)
c.1380G>T (p.Trp460Cys)
c.810G>T (p.Trp270Cys)
n.1772-2880C>A
c.1335G>T (p.Trp445Cys)
c.843G>T (p.Trp281Cys)
2g.27364544C>GCA346196697EIF2B4,GTF3C2-AS2c.1428G>C (p.Trp476Cys)
c.*694G>C (n.*694G>C)
c.1425G>C (p.Trp475Cys)
c.1488G>C (p.Trp496Cys)
n.421G>C
c.1491G>C (p.Trp497Cys)
c.1419G>C (p.Trp473Cys)
c.1383G>C (p.Trp461Cys)
c.1380G>C (p.Trp460Cys)
c.810G>C (p.Trp270Cys)
n.1772-2880C>G
c.1335G>C (p.Trp445Cys)
c.843G>C (p.Trp281Cys)
2g.27364544C>TCA346196698EIF2B4,GTF3C2-AS2c.1428G>A (p.Trp476Ter)
c.*694G>A (n.*694G>A)
c.1425G>A (p.Trp475Ter)
c.1488G>A (p.Trp496Ter)
n.421G>A
c.1491G>A (p.Trp497Ter)
c.1419G>A (p.Trp473Ter)
c.1383G>A (p.Trp461Ter)
c.1380G>A (p.Trp460Ter)
c.810G>A (p.Trp270Ter)
n.1772-2880C>T
c.1335G>A (p.Trp445Ter)
c.843G>A (p.Trp281Ter)
2g.27364545C>ACA346196701EIF2B4,GTF3C2-AS2c.1427G>T (p.Trp476Leu)
c.*693G>T (n.*693G>T)
c.1424G>T (p.Trp475Leu)
c.1487G>T (p.Trp496Leu)
n.420G>T
c.1490G>T (p.Trp497Leu)
c.1418G>T (p.Trp473Leu)
c.1382G>T (p.Trp461Leu)
c.1379G>T (p.Trp460Leu)
c.809G>T (p.Trp270Leu)
n.1772-2879C>A
c.1334G>T (p.Trp445Leu)
c.842G>T (p.Trp281Leu)
2g.27364545C>GCA346196700EIF2B4,GTF3C2-AS2c.1427G>C (p.Trp476Ser)
c.*693G>C (n.*693G>C)
c.1424G>C (p.Trp475Ser)
c.1487G>C (p.Trp496Ser)
n.420G>C
c.1490G>C (p.Trp497Ser)
c.1418G>C (p.Trp473Ser)
c.1382G>C (p.Trp461Ser)
c.1379G>C (p.Trp460Ser)
c.809G>C (p.Trp270Ser)
n.1772-2879C>G
c.1334G>C (p.Trp445Ser)
c.842G>C (p.Trp281Ser)
2g.27364545C>TCA346196699EIF2B4,GTF3C2-AS2c.1427G>A (p.Trp476Ter)
c.*693G>A (n.*693G>A)
c.1424G>A (p.Trp475Ter)
c.1487G>A (p.Trp496Ter)
n.420G>A
c.1490G>A (p.Trp497Ter)
c.1418G>A (p.Trp473Ter)
c.1382G>A (p.Trp461Ter)
c.1379G>A (p.Trp460Ter)
c.809G>A (p.Trp270Ter)
n.1772-2879C>T
c.1334G>A (p.Trp445Ter)
c.842G>A (p.Trp281Ter)
 gnomAD v4
2g.27364545_27364546delCA2658336134EIF2B4,GTF3C2-AS2c.1426_1427del (p.Trp476AlafsTer14)
c.*692_*693del (n.*692_*693del)
c.1423_1424del (p.Trp475AlafsTer14)
c.1486_1487del (p.Trp496AlafsTer14)
n.419_420del
c.1489_1490del (p.Trp497AlafsTer14)
c.1417_1418del (p.Trp473AlafsTer14)
c.1381_1382del (p.Trp461AlafsTer14)
c.1378_1379del (p.Trp460AlafsTer14)
c.808_809del (p.Trp270AlafsTer14)
n.1772-2879_1772-2878del
c.1333_1334del (p.Trp445AlafsTer14)
c.841_842del (p.Trp281AlafsTer14)
 gnomAD v4
2g.27364546A>CCA346196702EIF2B4,GTF3C2-AS2c.1426T>G (p.Trp476Gly)
c.*692T>G (n.*692T>G)
c.1423T>G (p.Trp475Gly)
c.1486T>G (p.Trp496Gly)
n.419T>G
c.1489T>G (p.Trp497Gly)
c.1417T>G (p.Trp473Gly)
c.1381T>G (p.Trp461Gly)
c.1378T>G (p.Trp460Gly)
c.808T>G (p.Trp270Gly)
n.1772-2878A>C
c.1333T>G (p.Trp445Gly)
c.841T>G (p.Trp281Gly)
2g.27364546A>GCA346196704EIF2B4,GTF3C2-AS2c.1426T>C (p.Trp476Arg)
c.*692T>C (n.*692T>C)
c.1423T>C (p.Trp475Arg)
c.1486T>C (p.Trp496Arg)
n.419T>C
c.1489T>C (p.Trp497Arg)
c.1417T>C (p.Trp473Arg)
c.1381T>C (p.Trp461Arg)
c.1378T>C (p.Trp460Arg)
c.808T>C (p.Trp270Arg)
n.1772-2878A>G
c.1333T>C (p.Trp445Arg)
c.841T>C (p.Trp281Arg)
2g.27364546A>TCA346196703EIF2B4,GTF3C2-AS2c.1426T>A (p.Trp476Arg)
c.*692T>A (n.*692T>A)
c.1423T>A (p.Trp475Arg)
c.1486T>A (p.Trp496Arg)
n.419T>A
c.1489T>A (p.Trp497Arg)
c.1417T>A (p.Trp473Arg)
c.1381T>A (p.Trp461Arg)
c.1378T>A (p.Trp460Arg)
c.808T>A (p.Trp270Arg)
n.1772-2878A>T
c.1333T>A (p.Trp445Arg)
c.841T>A (p.Trp281Arg)
2g.27364547G>ACA425409797EIF2B4,GTF3C2-AS2c.1425C>T (p.Asn475=)
c.*691C>T (n.*691C>T)
c.1422C>T (p.Asn474=)
c.1485C>T (p.Asn495=)
n.418C>T
c.1488C>T (p.Asn496=)
c.1416C>T (p.Asn472=)
c.1380C>T (p.Asn460=)
c.1377C>T (p.Asn459=)
c.807C>T (p.Asn269=)
n.1772-2877G>A
c.1332C>T (p.Asn444=)
c.840C>T (p.Asn280=)
 gnomAD v4
2g.27364547G>CCA346196705EIF2B4,GTF3C2-AS2c.1425C>G (p.Asn475Lys)
c.*691C>G (n.*691C>G)
c.1422C>G (p.Asn474Lys)
c.1485C>G (p.Asn495Lys)
n.418C>G
c.1488C>G (p.Asn496Lys)
c.1416C>G (p.Asn472Lys)
c.1380C>G (p.Asn460Lys)
c.1377C>G (p.Asn459Lys)
c.807C>G (p.Asn269Lys)
n.1772-2877G>C
c.1332C>G (p.Asn444Lys)
c.840C>G (p.Asn280Lys)
2g.27364547G>TCA346196706EIF2B4,GTF3C2-AS2c.1425C>A (p.Asn475Lys)
c.*691C>A (n.*691C>A)
c.1422C>A (p.Asn474Lys)
c.1485C>A (p.Asn495Lys)
n.418C>A
c.1488C>A (p.Asn496Lys)
c.1416C>A (p.Asn472Lys)
c.1380C>A (p.Asn460Lys)
c.1377C>A (p.Asn459Lys)
c.807C>A (p.Asn269Lys)
n.1772-2877G>T
c.1332C>A (p.Asn444Lys)
c.840C>A (p.Asn280Lys)
2g.27364548T>ACA346196707EIF2B4,GTF3C2-AS2c.1424A>T (p.Asn475Ile)
c.*690A>T (n.*690A>T)
c.1421A>T (p.Asn474Ile)
c.1484A>T (p.Asn495Ile)
n.417A>T
c.1487A>T (p.Asn496Ile)
c.1415A>T (p.Asn472Ile)
c.1379A>T (p.Asn460Ile)
c.1376A>T (p.Asn459Ile)
c.806A>T (p.Asn269Ile)
n.1772-2876T>A
c.1331A>T (p.Asn444Ile)
c.839A>T (p.Asn280Ile)
2g.27364548T>CCA346196708EIF2B4,GTF3C2-AS2c.1424A>G (p.Asn475Ser)
c.*690A>G (n.*690A>G)
c.1421A>G (p.Asn474Ser)
c.1484A>G (p.Asn495Ser)
n.417A>G
c.1487A>G (p.Asn496Ser)
c.1415A>G (p.Asn472Ser)
c.1379A>G (p.Asn460Ser)
c.1376A>G (p.Asn459Ser)
c.806A>G (p.Asn269Ser)
n.1772-2876T>C
c.1331A>G (p.Asn444Ser)
c.839A>G (p.Asn280Ser)
2g.27364548T>GCA346196709EIF2B4,GTF3C2-AS2c.1424A>C (p.Asn475Thr)
c.*690A>C (n.*690A>C)
c.1421A>C (p.Asn474Thr)
c.1484A>C (p.Asn495Thr)
n.417A>C
c.1487A>C (p.Asn496Thr)
c.1415A>C (p.Asn472Thr)
c.1379A>C (p.Asn460Thr)
c.1376A>C (p.Asn459Thr)
c.806A>C (p.Asn269Thr)
n.1772-2876T>G
c.1331A>C (p.Asn444Thr)
c.839A>C (p.Asn280Thr)
2g.27364549T>ACA346196710EIF2B4,GTF3C2-AS2c.1423A>T (p.Asn475Tyr)
c.*689A>T (n.*689A>T)
c.1420A>T (p.Asn474Tyr)
c.1483A>T (p.Asn495Tyr)
n.416A>T
c.1486A>T (p.Asn496Tyr)
c.1414A>T (p.Asn472Tyr)
c.1378A>T (p.Asn460Tyr)
c.1375A>T (p.Asn459Tyr)
c.805A>T (p.Asn269Tyr)
n.1772-2875T>A
c.1330A>T (p.Asn444Tyr)
c.838A>T (p.Asn280Tyr)
2g.27364549T>CCA346196711EIF2B4,GTF3C2-AS2c.1423A>G (p.Asn475Asp)
c.*689A>G (n.*689A>G)
c.1420A>G (p.Asn474Asp)
c.1483A>G (p.Asn495Asp)
n.416A>G
c.1486A>G (p.Asn496Asp)
c.1414A>G (p.Asn472Asp)
c.1378A>G (p.Asn460Asp)
c.1375A>G (p.Asn459Asp)
c.805A>G (p.Asn269Asp)
n.1772-2875T>C
c.1330A>G (p.Asn444Asp)
c.838A>G (p.Asn280Asp)
2g.27364549T>GCA346196712EIF2B4,GTF3C2-AS2c.1423A>C (p.Asn475His)
c.*689A>C (n.*689A>C)
c.1420A>C (p.Asn474His)
c.1483A>C (p.Asn495His)
n.416A>C
c.1486A>C (p.Asn496His)
c.1414A>C (p.Asn472His)
c.1378A>C (p.Asn460His)
c.1375A>C (p.Asn459His)
c.805A>C (p.Asn269His)
n.1772-2875T>G
c.1330A>C (p.Asn444His)
c.838A>C (p.Asn280His)
2g.27364550A>CCA425409798EIF2B4,GTF3C2-AS2c.1422T>G (p.Ala474=)
c.*688T>G (n.*688T>G)
c.1419T>G (p.Ala473=)
c.1482T>G (p.Ala494=)
n.415T>G
c.1485T>G (p.Ala495=)
c.1413T>G (p.Ala471=)
c.1377T>G (p.Ala459=)
c.1374T>G (p.Ala458=)
c.804T>G (p.Ala268=)
n.1772-2874A>C
c.1329T>G (p.Ala443=)
c.837T>G (p.Ala279=)
2g.27364550A>GCA425409799EIF2B4,GTF3C2-AS2c.1422T>C (p.Ala474=)
c.*688T>C (n.*688T>C)
c.1419T>C (p.Ala473=)
c.1482T>C (p.Ala494=)
n.415T>C
c.1485T>C (p.Ala495=)
c.1413T>C (p.Ala471=)
c.1377T>C (p.Ala459=)
c.1374T>C (p.Ala458=)
c.804T>C (p.Ala268=)
n.1772-2874A>G
c.1329T>C (p.Ala443=)
c.837T>C (p.Ala279=)
 ClinVar gnomAD v4
2g.27364550A>TCA425409800EIF2B4,GTF3C2-AS2c.1422T>A (p.Ala474=)
c.*688T>A (n.*688T>A)
c.1419T>A (p.Ala473=)
c.1482T>A (p.Ala494=)
n.415T>A
c.1485T>A (p.Ala495=)
c.1413T>A (p.Ala471=)
c.1377T>A (p.Ala459=)
c.1374T>A (p.Ala458=)
c.804T>A (p.Ala268=)
n.1772-2874A>T
c.1329T>A (p.Ala443=)
c.837T>A (p.Ala279=)
2g.27364551G>ACA346196713EIF2B4,GTF3C2-AS2c.1421C>T (p.Ala474Val)
c.*687C>T (n.*687C>T)
c.1418C>T (p.Ala473Val)
c.1481C>T (p.Ala494Val)
n.414C>T
c.1484C>T (p.Ala495Val)
c.1412C>T (p.Ala471Val)
c.1376C>T (p.Ala459Val)
c.1373C>T (p.Ala458Val)
c.803C>T (p.Ala268Val)
n.1772-2873G>A
c.1328C>T (p.Ala443Val)
c.836C>T (p.Ala279Val)
2g.27364551G>CCA1576573EIF2B4,GTF3C2-AS2c.1421C>G (p.Ala474Gly)
c.*687C>G (n.*687C>G)
c.1418C>G (p.Ala473Gly)
c.1481C>G (p.Ala494Gly)
n.414C>G
c.1484C>G (p.Ala495Gly)
c.1412C>G (p.Ala471Gly)
c.1376C>G (p.Ala459Gly)
c.1373C>G (p.Ala458Gly)
c.803C>G (p.Ala268Gly)
n.1772-2873G>C
c.1328C>G (p.Ala443Gly)
c.836C>G (p.Ala279Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364551G=CA1240242822EIF2B4,GTF3C2-AS2c.1421C= (p.Ala474=)
c.*687C= (n.*687C=)
c.1418C= (p.Ala473=)
c.1481C= (p.Ala494=)
n.414C=
c.1484C= (p.Ala495=)
c.1412C= (p.Ala471=)
c.1376C= (p.Ala459=)
c.1373C= (p.Ala458=)
c.803C= (p.Ala268=)
n.1772-2873G=
c.1328C= (p.Ala443=)
c.836C= (p.Ala279=)
2g.27364551G>TCA346196714EIF2B4,GTF3C2-AS2c.1421C>A (p.Ala474Asp)
c.*687C>A (n.*687C>A)
c.1418C>A (p.Ala473Asp)
c.1481C>A (p.Ala494Asp)
n.414C>A
c.1484C>A (p.Ala495Asp)
c.1412C>A (p.Ala471Asp)
c.1376C>A (p.Ala459Asp)
c.1373C>A (p.Ala458Asp)
c.803C>A (p.Ala268Asp)
n.1772-2873G>T
c.1328C>A (p.Ala443Asp)
c.836C>A (p.Ala279Asp)
2g.27364552C>ACA346196717EIF2B4,GTF3C2-AS2c.1420G>T (p.Ala474Ser)
c.*686G>T (n.*686G>T)
c.1417G>T (p.Ala473Ser)
c.1480G>T (p.Ala494Ser)
n.413G>T
c.1483G>T (p.Ala495Ser)
c.1411G>T (p.Ala471Ser)
c.1375G>T (p.Ala459Ser)
c.1372G>T (p.Ala458Ser)
c.802G>T (p.Ala268Ser)
n.1772-2872C>A
c.1327G>T (p.Ala443Ser)
c.835G>T (p.Ala279Ser)
2g.27364552C>GCA346196716EIF2B4,GTF3C2-AS2c.1420G>C (p.Ala474Pro)
c.*686G>C (n.*686G>C)
c.1417G>C (p.Ala473Pro)
c.1480G>C (p.Ala494Pro)
n.413G>C
c.1483G>C (p.Ala495Pro)
c.1411G>C (p.Ala471Pro)
c.1375G>C (p.Ala459Pro)
c.1372G>C (p.Ala458Pro)
c.802G>C (p.Ala268Pro)
n.1772-2872C>G
c.1327G>C (p.Ala443Pro)
c.835G>C (p.Ala279Pro)
2g.27364552C>TCA346196715EIF2B4,GTF3C2-AS2c.1420G>A (p.Ala474Thr)
c.*686G>A (n.*686G>A)
c.1417G>A (p.Ala473Thr)
c.1480G>A (p.Ala494Thr)
n.413G>A
c.1483G>A (p.Ala495Thr)
c.1411G>A (p.Ala471Thr)
c.1375G>A (p.Ala459Thr)
c.1372G>A (p.Ala458Thr)
c.802G>A (p.Ala268Thr)
n.1772-2872C>T
c.1327G>A (p.Ala443Thr)
c.835G>A (p.Ala279Thr)
 gnomAD v4
2g.27364553C>ACA425409801EIF2B4,GTF3C2-AS2c.1419G>T (p.Leu473=)
c.*685G>T (n.*685G>T)
c.1416G>T (p.Leu472=)
c.1479G>T (p.Leu493=)
n.412G>T
c.1482G>T (p.Leu494=)
c.1410G>T (p.Leu470=)
c.1374G>T (p.Leu458=)
c.1371G>T (p.Leu457=)
c.801G>T (p.Leu267=)
n.1772-2871C>A
c.1326G>T (p.Leu442=)
c.834G>T (p.Leu278=)
2g.27364553C>GCA425409802EIF2B4,GTF3C2-AS2c.1419G>C (p.Leu473=)
c.*685G>C (n.*685G>C)
c.1416G>C (p.Leu472=)
c.1479G>C (p.Leu493=)
n.412G>C
c.1482G>C (p.Leu494=)
c.1410G>C (p.Leu470=)
c.1374G>C (p.Leu458=)
c.1371G>C (p.Leu457=)
c.801G>C (p.Leu267=)
n.1772-2871C>G
c.1326G>C (p.Leu442=)
c.834G>C (p.Leu278=)
2g.27364553C>TCA425409803EIF2B4,GTF3C2-AS2c.1419G>A (p.Leu473=)
c.*685G>A (n.*685G>A)
c.1416G>A (p.Leu472=)
c.1479G>A (p.Leu493=)
n.412G>A
c.1482G>A (p.Leu494=)
c.1410G>A (p.Leu470=)
c.1374G>A (p.Leu458=)
c.1371G>A (p.Leu457=)
c.801G>A (p.Leu267=)
n.1772-2871C>T
c.1326G>A (p.Leu442=)
c.834G>A (p.Leu278=)
2g.27364554A>CCA346196718EIF2B4,GTF3C2-AS2c.1418T>G (p.Leu473Arg)
c.*684T>G (n.*684T>G)
c.1415T>G (p.Leu472Arg)
c.1478T>G (p.Leu493Arg)
n.411T>G
c.1481T>G (p.Leu494Arg)
c.1409T>G (p.Leu470Arg)
c.1373T>G (p.Leu458Arg)
c.1370T>G (p.Leu457Arg)
c.800T>G (p.Leu267Arg)
n.1772-2870A>C
c.1325T>G (p.Leu442Arg)
c.833T>G (p.Leu278Arg)
2g.27364554A>GCA346196719EIF2B4,GTF3C2-AS2c.1418T>C (p.Leu473Pro)
c.*684T>C (n.*684T>C)
c.1415T>C (p.Leu472Pro)
c.1478T>C (p.Leu493Pro)
n.411T>C
c.1481T>C (p.Leu494Pro)
c.1409T>C (p.Leu470Pro)
c.1373T>C (p.Leu458Pro)
c.1370T>C (p.Leu457Pro)
c.800T>C (p.Leu267Pro)
n.1772-2870A>G
c.1325T>C (p.Leu442Pro)
c.833T>C (p.Leu278Pro)
2g.27364554A>TCA346196720EIF2B4,GTF3C2-AS2c.1418T>A (p.Leu473Gln)
c.*684T>A (n.*684T>A)
c.1415T>A (p.Leu472Gln)
c.1478T>A (p.Leu493Gln)
n.411T>A
c.1481T>A (p.Leu494Gln)
c.1409T>A (p.Leu470Gln)
c.1373T>A (p.Leu458Gln)
c.1370T>A (p.Leu457Gln)
c.800T>A (p.Leu267Gln)
n.1772-2870A>T
c.1325T>A (p.Leu442Gln)
c.833T>A (p.Leu278Gln)
2g.27364555G>ACA425409804EIF2B4,GTF3C2-AS2c.1417C>T (p.Leu473=)
c.*683C>T (n.*683C>T)
c.1414C>T (p.Leu472=)
c.1477C>T (p.Leu493=)
n.410C>T
c.1480C>T (p.Leu494=)
c.1408C>T (p.Leu470=)
c.1372C>T (p.Leu458=)
c.1369C>T (p.Leu457=)
c.799C>T (p.Leu267=)
n.1772-2869G>A
c.1324C>T (p.Leu442=)
c.832C>T (p.Leu278=)
2g.27364555G>CCA346196721EIF2B4,GTF3C2-AS2c.1417C>G (p.Leu473Val)
c.*683C>G (n.*683C>G)
c.1414C>G (p.Leu472Val)
c.1477C>G (p.Leu493Val)
n.410C>G
c.1480C>G (p.Leu494Val)
c.1408C>G (p.Leu470Val)
c.1372C>G (p.Leu458Val)
c.1369C>G (p.Leu457Val)
c.799C>G (p.Leu267Val)
n.1772-2869G>C
c.1324C>G (p.Leu442Val)
c.832C>G (p.Leu278Val)
2g.27364555G>TCA346196722EIF2B4,GTF3C2-AS2c.1417C>A (p.Leu473Met)
c.*683C>A (n.*683C>A)
c.1414C>A (p.Leu472Met)
c.1477C>A (p.Leu493Met)
n.410C>A
c.1480C>A (p.Leu494Met)
c.1408C>A (p.Leu470Met)
c.1372C>A (p.Leu458Met)
c.1369C>A (p.Leu457Met)
c.799C>A (p.Leu267Met)
n.1772-2869G>T
c.1324C>A (p.Leu442Met)
c.832C>A (p.Leu278Met)
2g.27364556C>ACA425409806EIF2B4,GTF3C2-AS2c.1416G>T (p.Ala472=)
c.*682G>T (n.*682G>T)
c.1413G>T (p.Ala471=)
c.1476G>T (p.Ala492=)
n.409G>T
c.1479G>T (p.Ala493=)
c.1407G>T (p.Ala469=)
c.1371G>T (p.Ala457=)
c.1368G>T (p.Ala456=)
c.798G>T (p.Ala266=)
n.1772-2868C>A
c.1323G>T (p.Ala441=)
c.831G>T (p.Ala277=)
2g.27364556C=CA1240242823EIF2B4,GTF3C2-AS2c.1416G= (p.Ala472=)
c.*682G= (n.*682G=)
c.1413G= (p.Ala471=)
c.1476G= (p.Ala492=)
n.409G=
c.1479G= (p.Ala493=)
c.1407G= (p.Ala469=)
c.1371G= (p.Ala457=)
c.1368G= (p.Ala456=)
c.798G= (p.Ala266=)
n.1772-2868C=
c.1323G= (p.Ala441=)
c.831G= (p.Ala277=)
2g.27364556C>GCA425409805EIF2B4,GTF3C2-AS2c.1416G>C (p.Ala472=)
c.*682G>C (n.*682G>C)
c.1413G>C (p.Ala471=)
c.1476G>C (p.Ala492=)
n.409G>C
c.1479G>C (p.Ala493=)
c.1407G>C (p.Ala469=)
c.1371G>C (p.Ala457=)
c.1368G>C (p.Ala456=)
c.798G>C (p.Ala266=)
n.1772-2868C>G
c.1323G>C (p.Ala441=)
c.831G>C (p.Ala277=)
2g.27364556C>TCA1576574EIF2B4,GTF3C2-AS2c.1416G>A (p.Ala472=)
c.*682G>A (n.*682G>A)
c.1413G>A (p.Ala471=)
c.1476G>A (p.Ala492=)
n.409G>A
c.1479G>A (p.Ala493=)
c.1407G>A (p.Ala469=)
c.1371G>A (p.Ala457=)
c.1368G>A (p.Ala456=)
c.798G>A (p.Ala266=)
n.1772-2868C>T
c.1323G>A (p.Ala441=)
c.831G>A (p.Ala277=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.27364557G>ACA346196723EIF2B4,GTF3C2-AS2c.1415C>T (p.Ala472Val)
c.*681C>T (n.*681C>T)
c.1412C>T (p.Ala471Val)
c.1475C>T (p.Ala492Val)
n.408C>T
c.1478C>T (p.Ala493Val)
c.1406C>T (p.Ala469Val)
c.1370C>T (p.Ala457Val)
c.1367C>T (p.Ala456Val)
c.797C>T (p.Ala266Val)
n.1772-2867G>A
c.1322C>T (p.Ala441Val)
c.830C>T (p.Ala277Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27364557G>CCA346196724EIF2B4,GTF3C2-AS2c.1415C>G (p.Ala472Gly)
c.*681C>G (n.*681C>G)
c.1412C>G (p.Ala471Gly)
c.1475C>G (p.Ala492Gly)
n.408C>G
c.1478C>G (p.Ala493Gly)
c.1406C>G (p.Ala469Gly)
c.1370C>G (p.Ala457Gly)
c.1367C>G (p.Ala456Gly)
c.797C>G (p.Ala266Gly)
n.1772-2867G>C
c.1322C>G (p.Ala441Gly)
c.830C>G (p.Ala277Gly)
2g.27364557G=CA1240242824EIF2B4,GTF3C2-AS2c.1415C= (p.Ala472=)
c.*681C= (n.*681C=)
c.1412C= (p.Ala471=)
c.1475C= (p.Ala492=)
n.408C=
c.1478C= (p.Ala493=)
c.1406C= (p.Ala469=)
c.1370C= (p.Ala457=)
c.1367C= (p.Ala456=)
c.797C= (p.Ala266=)
n.1772-2867G=
c.1322C= (p.Ala441=)
c.830C= (p.Ala277=)
2g.27364557G>TCA346196725EIF2B4,GTF3C2-AS2c.1415C>A (p.Ala472Glu)
c.*681C>A (n.*681C>A)
c.1412C>A (p.Ala471Glu)
c.1475C>A (p.Ala492Glu)
n.408C>A
c.1478C>A (p.Ala493Glu)
c.1406C>A (p.Ala469Glu)
c.1370C>A (p.Ala457Glu)
c.1367C>A (p.Ala456Glu)
c.797C>A (p.Ala266Glu)
n.1772-2867G>T
c.1322C>A (p.Ala441Glu)
c.830C>A (p.Ala277Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.27364558C>ACA346196726EIF2B4,GTF3C2-AS2c.1414G>T (p.Ala472Ser)
c.*680G>T (n.*680G>T)
c.1411G>T (p.Ala471Ser)
c.1474G>T (p.Ala492Ser)
n.407G>T
c.1477G>T (p.Ala493Ser)
c.1405G>T (p.Ala469Ser)
c.1369G>T (p.Ala457Ser)
c.1366G>T (p.Ala456Ser)
c.796G>T (p.Ala266Ser)
n.1772-2866C>A
c.1321G>T (p.Ala441Ser)
c.829G>T (p.Ala277Ser)
2g.27364558C>GCA346196727EIF2B4,GTF3C2-AS2c.1414G>C (p.Ala472Pro)
c.*680G>C (n.*680G>C)
c.1411G>C (p.Ala471Pro)
c.1474G>C (p.Ala492Pro)
n.407G>C
c.1477G>C (p.Ala493Pro)
c.1405G>C (p.Ala469Pro)
c.1369G>C (p.Ala457Pro)
c.1366G>C (p.Ala456Pro)
c.796G>C (p.Ala266Pro)
n.1772-2866C>G
c.1321G>C (p.Ala441Pro)
c.829G>C (p.Ala277Pro)
2g.27364558C>TCA346196728EIF2B4,GTF3C2-AS2c.1414G>A (p.Ala472Thr)
c.*680G>A (n.*680G>A)
c.1411G>A (p.Ala471Thr)
c.1474G>A (p.Ala492Thr)
n.407G>A
c.1477G>A (p.Ala493Thr)
c.1405G>A (p.Ala469Thr)
c.1369G>A (p.Ala457Thr)
c.1366G>A (p.Ala456Thr)
c.796G>A (p.Ala266Thr)
n.1772-2866C>T
c.1321G>A (p.Ala441Thr)
c.829G>A (p.Ala277Thr)
2g.27364559A=CA1240242825EIF2B4,GTF3C2-AS2c.1413T= (p.Val471=)
c.*679T= (n.*679T=)
c.1410T= (p.Val470=)
c.1473T= (p.Val491=)
n.406T=
c.1476T= (p.Val492=)
c.1404T= (p.Val468=)
c.1368T= (p.Val456=)
c.1365T= (p.Val455=)
c.795T= (p.Val265=)
n.1772-2865A=
c.1320T= (p.Val440=)
c.828T= (p.Val276=)
2g.27364559A>CCA425409809EIF2B4,GTF3C2-AS2c.1413T>G (p.Val471=)
c.*679T>G (n.*679T>G)
c.1410T>G (p.Val470=)
c.1473T>G (p.Val491=)
n.406T>G
c.1476T>G (p.Val492=)
c.1404T>G (p.Val468=)
c.1368T>G (p.Val456=)
c.1365T>G (p.Val455=)
c.795T>G (p.Val265=)
n.1772-2865A>C
c.1320T>G (p.Val440=)
c.828T>G (p.Val276=)
2g.27364559A>GCA425409808EIF2B4,GTF3C2-AS2c.1413T>C (p.Val471=)
c.*679T>C (n.*679T>C)
c.1410T>C (p.Val470=)
c.1473T>C (p.Val491=)
n.406T>C
c.1476T>C (p.Val492=)
c.1404T>C (p.Val468=)
c.1368T>C (p.Val456=)
c.1365T>C (p.Val455=)
c.795T>C (p.Val265=)
n.1772-2865A>G
c.1320T>C (p.Val440=)
c.828T>C (p.Val276=)
 dbSNP gnomAD v2 gnomAD v4
2g.27364559A>TCA425409807EIF2B4,GTF3C2-AS2c.1413T>A (p.Val471=)
c.*679T>A (n.*679T>A)
c.1410T>A (p.Val470=)
c.1473T>A (p.Val491=)
n.406T>A
c.1476T>A (p.Val492=)
c.1404T>A (p.Val468=)
c.1368T>A (p.Val456=)
c.1365T>A (p.Val455=)
c.795T>A (p.Val265=)
n.1772-2865A>T
c.1320T>A (p.Val440=)
c.828T>A (p.Val276=)
2g.27364560A=CA1240242826EIF2B4,GTF3C2-AS2c.1412T= (p.Val471=)
c.*678T= (n.*678T=)
c.1409T= (p.Val470=)
c.1472T= (p.Val491=)
n.405T=
c.1475T= (p.Val492=)
c.1403T= (p.Val468=)
c.1367T= (p.Val456=)
c.1364T= (p.Val455=)
c.794T= (p.Val265=)
n.1772-2864A=
c.1319T= (p.Val440=)
c.827T= (p.Val276=)
2g.27364560A>CCA346196729EIF2B4,GTF3C2-AS2c.1412T>G (p.Val471Gly)
c.*678T>G (n.*678T>G)
c.1409T>G (p.Val470Gly)
c.1472T>G (p.Val491Gly)
n.405T>G
c.1475T>G (p.Val492Gly)
c.1403T>G (p.Val468Gly)
c.1367T>G (p.Val456Gly)
c.1364T>G (p.Val455Gly)
c.794T>G (p.Val265Gly)
n.1772-2864A>C
c.1319T>G (p.Val440Gly)
c.827T>G (p.Val276Gly)
2g.27364560A>GCA44509252EIF2B4,GTF3C2-AS2c.1412T>C (p.Val471Ala)
c.*678T>C (n.*678T>C)
c.1409T>C (p.Val470Ala)
c.1472T>C (p.Val491Ala)
n.405T>C
c.1475T>C (p.Val492Ala)
c.1403T>C (p.Val468Ala)
c.1367T>C (p.Val456Ala)
c.1364T>C (p.Val455Ala)
c.794T>C (p.Val265Ala)
n.1772-2864A>G
c.1319T>C (p.Val440Ala)
c.827T>C (p.Val276Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27364560A>TCA1576575EIF2B4,GTF3C2-AS2c.1412T>A (p.Val471Asp)
c.*678T>A (n.*678T>A)
c.1409T>A (p.Val470Asp)
c.1472T>A (p.Val491Asp)
n.405T>A
c.1475T>A (p.Val492Asp)
c.1403T>A (p.Val468Asp)
c.1367T>A (p.Val456Asp)
c.1364T>A (p.Val455Asp)
c.794T>A (p.Val265Asp)
n.1772-2864A>T
c.1319T>A (p.Val440Asp)
c.827T>A (p.Val276Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364561C>ACA1576576EIF2B4,GTF3C2-AS2c.1411G>T (p.Val471Phe)
c.*677G>T (n.*677G>T)
c.1408G>T (p.Val470Phe)
c.1471G>T (p.Val491Phe)
n.404G>T
c.1474G>T (p.Val492Phe)
c.1402G>T (p.Val468Phe)
c.1366G>T (p.Val456Phe)
c.1363G>T (p.Val455Phe)
c.793G>T (p.Val265Phe)
n.1772-2863C>A
c.1318G>T (p.Val440Phe)
c.826G>T (p.Val276Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364561C=CA1240242827EIF2B4,GTF3C2-AS2c.1411G= (p.Val471=)
c.*677G= (n.*677G=)
c.1408G= (p.Val470=)
c.1471G= (p.Val491=)
n.404G=
c.1474G= (p.Val492=)
c.1402G= (p.Val468=)
c.1366G= (p.Val456=)
c.1363G= (p.Val455=)
c.793G= (p.Val265=)
n.1772-2863C=
c.1318G= (p.Val440=)
c.826G= (p.Val276=)
2g.27364561C>GCA346196730EIF2B4,GTF3C2-AS2c.1411G>C (p.Val471Leu)
c.*677G>C (n.*677G>C)
c.1408G>C (p.Val470Leu)
c.1471G>C (p.Val491Leu)
n.404G>C
c.1474G>C (p.Val492Leu)
c.1402G>C (p.Val468Leu)
c.1366G>C (p.Val456Leu)
c.1363G>C (p.Val455Leu)
c.793G>C (p.Val265Leu)
n.1772-2863C>G
c.1318G>C (p.Val440Leu)
c.826G>C (p.Val276Leu)
 gnomAD v4
2g.27364561C>TCA346196731EIF2B4,GTF3C2-AS2c.1411G>A (p.Val471Ile)
c.*677G>A (n.*677G>A)
c.1408G>A (p.Val470Ile)
c.1471G>A (p.Val491Ile)
n.404G>A
c.1474G>A (p.Val492Ile)
c.1402G>A (p.Val468Ile)
c.1366G>A (p.Val456Ile)
c.1363G>A (p.Val455Ile)
c.793G>A (p.Val265Ile)
n.1772-2863C>T
c.1318G>A (p.Val440Ile)
c.826G>A (p.Val276Ile)
 gnomAD v4
2g.27364562A>CCA346196732EIF2B4,GTF3C2-AS2c.1410T>G (p.His470Gln)
c.*676T>G (n.*676T>G)
c.1407T>G (p.His469Gln)
c.1470T>G (p.His490Gln)
n.403T>G
c.1473T>G (p.His491Gln)
c.1401T>G (p.His467Gln)
c.1365T>G (p.His455Gln)
c.1362T>G (p.His454Gln)
c.792T>G (p.His264Gln)
n.1772-2862A>C
c.1317T>G (p.His439Gln)
c.825T>G (p.His275Gln)
2g.27364562A>GCA425409810EIF2B4,GTF3C2-AS2c.1410T>C (p.His470=)
c.*676T>C (n.*676T>C)
c.1407T>C (p.His469=)
c.1470T>C (p.His490=)
n.403T>C
c.1473T>C (p.His491=)
c.1401T>C (p.His467=)
c.1365T>C (p.His455=)
c.1362T>C (p.His454=)
c.792T>C (p.His264=)
n.1772-2862A>G
c.1317T>C (p.His439=)
c.825T>C (p.His275=)
 gnomAD v4
2g.27364562A>TCA346196733EIF2B4,GTF3C2-AS2c.1410T>A (p.His470Gln)
c.*676T>A (n.*676T>A)
c.1407T>A (p.His469Gln)
c.1470T>A (p.His490Gln)
n.403T>A
c.1473T>A (p.His491Gln)
c.1401T>A (p.His467Gln)
c.1365T>A (p.His455Gln)
c.1362T>A (p.His454Gln)
c.792T>A (p.His264Gln)
n.1772-2862A>T
c.1317T>A (p.His439Gln)
c.825T>A (p.His275Gln)
2g.27364563T>ACA346196734EIF2B4,GTF3C2-AS2c.1409A>T (p.His470Leu)
c.*675A>T (n.*675A>T)
c.1406A>T (p.His469Leu)
c.1469A>T (p.His490Leu)
n.402A>T
c.1472A>T (p.His491Leu)
c.1400A>T (p.His467Leu)
c.1364A>T (p.His455Leu)
c.1361A>T (p.His454Leu)
c.791A>T (p.His264Leu)
n.1772-2861T>A
c.1316A>T (p.His439Leu)
c.824A>T (p.His275Leu)
2g.27364563T>CCA44509298EIF2B4,GTF3C2-AS2c.1409A>G (p.His470Arg)
c.*675A>G (n.*675A>G)
c.1406A>G (p.His469Arg)
c.1469A>G (p.His490Arg)
n.402A>G
c.1472A>G (p.His491Arg)
c.1400A>G (p.His467Arg)
c.1364A>G (p.His455Arg)
c.1361A>G (p.His454Arg)
c.791A>G (p.His264Arg)
n.1772-2861T>C
c.1316A>G (p.His439Arg)
c.824A>G (p.His275Arg)
 dbSNP
2g.27364563T>GCA346196735EIF2B4,GTF3C2-AS2c.1409A>C (p.His470Pro)
c.*675A>C (n.*675A>C)
c.1406A>C (p.His469Pro)
c.1469A>C (p.His490Pro)
n.402A>C
c.1472A>C (p.His491Pro)
c.1400A>C (p.His467Pro)
c.1364A>C (p.His455Pro)
c.1361A>C (p.His454Pro)
c.791A>C (p.His264Pro)
n.1772-2861T>G
c.1316A>C (p.His439Pro)
c.824A>C (p.His275Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.27364563T=CA1240242828EIF2B4,GTF3C2-AS2c.1409A= (p.His470=)
c.*675A= (n.*675A=)
c.1406A= (p.His469=)
c.1469A= (p.His490=)
n.402A=
c.1472A= (p.His491=)
c.1400A= (p.His467=)
c.1364A= (p.His455=)
c.1361A= (p.His454=)
c.791A= (p.His264=)
n.1772-2861T=
c.1316A= (p.His439=)
c.824A= (p.His275=)
2g.27364564G>ACA346196736EIF2B4,GTF3C2-AS2c.1408C>T (p.His470Tyr)
c.*674C>T (n.*674C>T)
c.1405C>T (p.His469Tyr)
c.1468C>T (p.His490Tyr)
n.401C>T
c.1471C>T (p.His491Tyr)
c.1399C>T (p.His467Tyr)
c.1363C>T (p.His455Tyr)
c.1360C>T (p.His454Tyr)
c.790C>T (p.His264Tyr)
n.1772-2860G>A
c.1315C>T (p.His439Tyr)
c.823C>T (p.His275Tyr)
2g.27364564G>CCA346196737EIF2B4,GTF3C2-AS2c.1408C>G (p.His470Asp)
c.*674C>G (n.*674C>G)
c.1405C>G (p.His469Asp)
c.1468C>G (p.His490Asp)
n.401C>G
c.1471C>G (p.His491Asp)
c.1399C>G (p.His467Asp)
c.1363C>G (p.His455Asp)
c.1360C>G (p.His454Asp)
c.790C>G (p.His264Asp)
n.1772-2860G>C
c.1315C>G (p.His439Asp)
c.823C>G (p.His275Asp)
2g.27364564G=CA1240242829EIF2B4,GTF3C2-AS2c.1408C= (p.His470=)
c.*674C= (n.*674C=)
c.1405C= (p.His469=)
c.1468C= (p.His490=)
n.401C=
c.1471C= (p.His491=)
c.1399C= (p.His467=)
c.1363C= (p.His455=)
c.1360C= (p.His454=)
c.790C= (p.His264=)
n.1772-2860G=
c.1315C= (p.His439=)
c.823C= (p.His275=)
2g.27364564G>TCA346196738EIF2B4,GTF3C2-AS2c.1408C>A (p.His470Asn)
c.*674C>A (n.*674C>A)
c.1405C>A (p.His469Asn)
c.1468C>A (p.His490Asn)
n.401C>A
c.1471C>A (p.His491Asn)
c.1399C>A (p.His467Asn)
c.1363C>A (p.His455Asn)
c.1360C>A (p.His454Asn)
c.790C>A (p.His264Asn)
n.1772-2860G>T
c.1315C>A (p.His439Asn)
c.823C>A (p.His275Asn)
 dbSNP
2g.27364565T>ACA346196739EIF2B4,GTF3C2-AS2c.1407A>T (p.Glu469Asp)
c.*673A>T (n.*673A>T)
c.1404A>T (p.Glu468Asp)
c.1467A>T (p.Glu489Asp)
n.400A>T
c.1470A>T (p.Glu490Asp)
c.1398A>T (p.Glu466Asp)
c.1362A>T (p.Glu454Asp)
c.1359A>T (p.Glu453Asp)
c.789A>T (p.Glu263Asp)
n.1772-2859T>A
c.1314A>T (p.Glu438Asp)
c.822A>T (p.Glu274Asp)
2g.27364565T>CCA425409811EIF2B4,GTF3C2-AS2c.1407A>G (p.Glu469=)
c.*673A>G (n.*673A>G)
c.1404A>G (p.Glu468=)
c.1467A>G (p.Glu489=)
n.400A>G
c.1470A>G (p.Glu490=)
c.1398A>G (p.Glu466=)
c.1362A>G (p.Glu454=)
c.1359A>G (p.Glu453=)
c.789A>G (p.Glu263=)
n.1772-2859T>C
c.1314A>G (p.Glu438=)
c.822A>G (p.Glu274=)
 dbSNP
2g.27364565T>GCA346196740EIF2B4,GTF3C2-AS2c.1407A>C (p.Glu469Asp)
c.*673A>C (n.*673A>C)
c.1404A>C (p.Glu468Asp)
c.1467A>C (p.Glu489Asp)
n.400A>C
c.1470A>C (p.Glu490Asp)
c.1398A>C (p.Glu466Asp)
c.1362A>C (p.Glu454Asp)
c.1359A>C (p.Glu453Asp)
c.789A>C (p.Glu263Asp)
n.1772-2859T>G
c.1314A>C (p.Glu438Asp)
c.822A>C (p.Glu274Asp)
2g.27364565T=CA1240242830EIF2B4,GTF3C2-AS2c.1407A= (p.Glu469=)
c.*673A= (n.*673A=)
c.1404A= (p.Glu468=)
c.1467A= (p.Glu489=)
n.400A=
c.1470A= (p.Glu490=)
c.1398A= (p.Glu466=)
c.1362A= (p.Glu454=)
c.1359A= (p.Glu453=)
c.789A= (p.Glu263=)
n.1772-2859T=
c.1314A= (p.Glu438=)
c.822A= (p.Glu274=)
2g.27364566T>ACA346196743EIF2B4,GTF3C2-AS2c.1406A>T (p.Glu469Val)
c.*672A>T (n.*672A>T)
c.1403A>T (p.Glu468Val)
c.1466A>T (p.Glu489Val)
n.399A>T
c.1469A>T (p.Glu490Val)
c.1397A>T (p.Glu466Val)
c.1361A>T (p.Glu454Val)
c.1358A>T (p.Glu453Val)
c.788A>T (p.Glu263Val)
n.1772-2858T>A
c.1313A>T (p.Glu438Val)
c.821A>T (p.Glu274Val)
2g.27364566T>CCA346196741EIF2B4,GTF3C2-AS2c.1406A>G (p.Glu469Gly)
c.*672A>G (n.*672A>G)
c.1403A>G (p.Glu468Gly)
c.1466A>G (p.Glu489Gly)
n.399A>G
c.1469A>G (p.Glu490Gly)
c.1397A>G (p.Glu466Gly)
c.1361A>G (p.Glu454Gly)
c.1358A>G (p.Glu453Gly)
c.788A>G (p.Glu263Gly)
n.1772-2858T>C
c.1313A>G (p.Glu438Gly)
c.821A>G (p.Glu274Gly)
2g.27364566T>GCA346196742EIF2B4,GTF3C2-AS2c.1406A>C (p.Glu469Ala)
c.*672A>C (n.*672A>C)
c.1403A>C (p.Glu468Ala)
c.1466A>C (p.Glu489Ala)
n.399A>C
c.1469A>C (p.Glu490Ala)
c.1397A>C (p.Glu466Ala)
c.1361A>C (p.Glu454Ala)
c.1358A>C (p.Glu453Ala)
c.788A>C (p.Glu263Ala)
n.1772-2858T>G
c.1313A>C (p.Glu438Ala)
c.821A>C (p.Glu274Ala)
2g.27364567C>ACA346196744EIF2B4,GTF3C2-AS2c.1405G>T (p.Glu469Ter)
c.*671G>T (n.*671G>T)
c.1402G>T (p.Glu468Ter)
c.1465G>T (p.Glu489Ter)
n.398G>T
c.1468G>T (p.Glu490Ter)
c.1396G>T (p.Glu466Ter)
c.1360G>T (p.Glu454Ter)
c.1357G>T (p.Glu453Ter)
c.787G>T (p.Glu263Ter)
n.1772-2857C>A
c.1312G>T (p.Glu438Ter)
c.820G>T (p.Glu274Ter)
2g.27364567C>GCA346196745EIF2B4,GTF3C2-AS2c.1405G>C (p.Glu469Gln)
c.*671G>C (n.*671G>C)
c.1402G>C (p.Glu468Gln)
c.1465G>C (p.Glu489Gln)
n.398G>C
c.1468G>C (p.Glu490Gln)
c.1396G>C (p.Glu466Gln)
c.1360G>C (p.Glu454Gln)
c.1357G>C (p.Glu453Gln)
c.787G>C (p.Glu263Gln)
n.1772-2857C>G
c.1312G>C (p.Glu438Gln)
c.820G>C (p.Glu274Gln)
2g.27364567C>TCA346196746EIF2B4,GTF3C2-AS2c.1405G>A (p.Glu469Lys)
c.*671G>A (n.*671G>A)
c.1402G>A (p.Glu468Lys)
c.1465G>A (p.Glu489Lys)
n.398G>A
c.1468G>A (p.Glu490Lys)
c.1396G>A (p.Glu466Lys)
c.1360G>A (p.Glu454Lys)
c.1357G>A (p.Glu453Lys)
c.787G>A (p.Glu263Lys)
n.1772-2857C>T
c.1312G>A (p.Glu438Lys)
c.820G>A (p.Glu274Lys)
 gnomAD v4
2g.27364568T>ACA425409812EIF2B4,GTF3C2-AS2c.1404A>T (p.Gly468=)
c.*670A>T (n.*670A>T)
c.1401A>T (p.Gly467=)
c.1464A>T (p.Gly488=)
n.397A>T
c.1467A>T (p.Gly489=)
c.1395A>T (p.Gly465=)
c.1359A>T (p.Gly453=)
c.1356A>T (p.Gly452=)
c.786A>T (p.Gly262=)
n.1772-2856T>A
c.1311A>T (p.Gly437=)
c.819A>T (p.Gly273=)
2g.27364568T>CCA425409813EIF2B4,GTF3C2-AS2c.1404A>G (p.Gly468=)
c.*670A>G (n.*670A>G)
c.1401A>G (p.Gly467=)
c.1464A>G (p.Gly488=)
n.397A>G
c.1467A>G (p.Gly489=)
c.1395A>G (p.Gly465=)
c.1359A>G (p.Gly453=)
c.1356A>G (p.Gly452=)
c.786A>G (p.Gly262=)
n.1772-2856T>C
c.1311A>G (p.Gly437=)
c.819A>G (p.Gly273=)
2g.27364568T>GCA425409814EIF2B4,GTF3C2-AS2c.1404A>C (p.Gly468=)
c.*670A>C (n.*670A>C)
c.1401A>C (p.Gly467=)
c.1464A>C (p.Gly488=)
n.397A>C
c.1467A>C (p.Gly489=)
c.1395A>C (p.Gly465=)
c.1359A>C (p.Gly453=)
c.1356A>C (p.Gly452=)
c.786A>C (p.Gly262=)
n.1772-2856T>G
c.1311A>C (p.Gly437=)
c.819A>C (p.Gly273=)
2g.27364569C>ACA346196747EIF2B4,GTF3C2-AS2c.1403G>T (p.Gly468Val)
c.*669G>T (n.*669G>T)
c.1400G>T (p.Gly467Val)
c.1463G>T (p.Gly488Val)
n.396G>T
c.1466G>T (p.Gly489Val)
c.1394G>T (p.Gly465Val)
c.1358G>T (p.Gly453Val)
c.1355G>T (p.Gly452Val)
c.785G>T (p.Gly262Val)
n.1772-2855C>A
c.1310G>T (p.Gly437Val)
c.818G>T (p.Gly273Val)
 gnomAD v4
2g.27364569C=CA1240242831EIF2B4,GTF3C2-AS2c.1403G= (p.Gly468=)
c.*669G= (n.*669G=)
c.1400G= (p.Gly467=)
c.1463G= (p.Gly488=)
n.396G=
c.1466G= (p.Gly489=)
c.1394G= (p.Gly465=)
c.1358G= (p.Gly453=)
c.1355G= (p.Gly452=)
c.785G= (p.Gly262=)
n.1772-2855C=
c.1310G= (p.Gly437=)
c.818G= (p.Gly273=)
2g.27364569C>GCA346196748EIF2B4,GTF3C2-AS2c.1403G>C (p.Gly468Ala)
c.*669G>C (n.*669G>C)
c.1400G>C (p.Gly467Ala)
c.1463G>C (p.Gly488Ala)
n.396G>C
c.1466G>C (p.Gly489Ala)
c.1394G>C (p.Gly465Ala)
c.1358G>C (p.Gly453Ala)
c.1355G>C (p.Gly452Ala)
c.785G>C (p.Gly262Ala)
n.1772-2855C>G
c.1310G>C (p.Gly437Ala)
c.818G>C (p.Gly273Ala)
2g.27364569C>TCA1576577EIF2B4,GTF3C2-AS2c.1403G>A (p.Gly468Glu)
c.*669G>A (n.*669G>A)
c.1400G>A (p.Gly467Glu)
c.1463G>A (p.Gly488Glu)
n.396G>A
c.1466G>A (p.Gly489Glu)
c.1394G>A (p.Gly465Glu)
c.1358G>A (p.Gly453Glu)
c.1355G>A (p.Gly452Glu)
c.785G>A (p.Gly262Glu)
n.1772-2855C>T
c.1310G>A (p.Gly437Glu)
c.818G>A (p.Gly273Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364570C>ACA346196749EIF2B4,GTF3C2-AS2c.1402G>T (p.Gly468Ter)
c.*668G>T (n.*668G>T)
c.1399G>T (p.Gly467Ter)
c.1462G>T (p.Gly488Ter)
n.395G>T
c.1465G>T (p.Gly489Ter)
c.1393G>T (p.Gly465Ter)
c.1357G>T (p.Gly453Ter)
c.1354G>T (p.Gly452Ter)
c.784G>T (p.Gly262Ter)
n.1772-2854C>A
c.1309G>T (p.Gly437Ter)
c.817G>T (p.Gly273Ter)
2g.27364570C=CA1240242832EIF2B4,GTF3C2-AS2c.1402G= (p.Gly468=)
c.*668G= (n.*668G=)
c.1399G= (p.Gly467=)
c.1462G= (p.Gly488=)
n.395G=
c.1465G= (p.Gly489=)
c.1393G= (p.Gly465=)
c.1357G= (p.Gly453=)
c.1354G= (p.Gly452=)
c.784G= (p.Gly262=)
n.1772-2854C=
c.1309G= (p.Gly437=)
c.817G= (p.Gly273=)
2g.27364570C>GCA346196750EIF2B4,GTF3C2-AS2c.1402G>C (p.Gly468Arg)
c.*668G>C (n.*668G>C)
c.1399G>C (p.Gly467Arg)
c.1462G>C (p.Gly488Arg)
n.395G>C
c.1465G>C (p.Gly489Arg)
c.1393G>C (p.Gly465Arg)
c.1357G>C (p.Gly453Arg)
c.1354G>C (p.Gly452Arg)
c.784G>C (p.Gly262Arg)
n.1772-2854C>G
c.1309G>C (p.Gly437Arg)
c.817G>C (p.Gly273Arg)
2g.27364570C>TCA346196751EIF2B4,GTF3C2-AS2c.1402G>A (p.Gly468Arg)
c.*668G>A (n.*668G>A)
c.1399G>A (p.Gly467Arg)
c.1462G>A (p.Gly488Arg)
n.395G>A
c.1465G>A (p.Gly489Arg)
c.1393G>A (p.Gly465Arg)
c.1357G>A (p.Gly453Arg)
c.1354G>A (p.Gly452Arg)
c.784G>A (p.Gly262Arg)
n.1772-2854C>T
c.1309G>A (p.Gly437Arg)
c.817G>A (p.Gly273Arg)
 dbSNP gnomAD v4
2g.27364571C>ACA425409815EIF2B4,GTF3C2-AS2c.1401G>T (p.Arg467=)
c.*667G>T (n.*667G>T)
c.1398G>T (p.Arg466=)
c.1461G>T (p.Arg487=)
n.394G>T
c.1464G>T (p.Arg488=)
c.1392G>T (p.Arg464=)
c.1356G>T (p.Arg452=)
c.1353G>T (p.Arg451=)
c.783G>T (p.Arg261=)
n.1772-2853C>A
c.1308G>T (p.Arg436=)
c.816G>T (p.Arg272=)
2g.27364571C>GCA425409816EIF2B4,GTF3C2-AS2c.1401G>C (p.Arg467=)
c.*667G>C (n.*667G>C)
c.1398G>C (p.Arg466=)
c.1461G>C (p.Arg487=)
n.394G>C
c.1464G>C (p.Arg488=)
c.1392G>C (p.Arg464=)
c.1356G>C (p.Arg452=)
c.1353G>C (p.Arg451=)
c.783G>C (p.Arg261=)
n.1772-2853C>G
c.1308G>C (p.Arg436=)
c.816G>C (p.Arg272=)
2g.27364571C>TCA425409817EIF2B4,GTF3C2-AS2c.1401G>A (p.Arg467=)
c.*667G>A (n.*667G>A)
c.1398G>A (p.Arg466=)
c.1461G>A (p.Arg487=)
n.394G>A
c.1464G>A (p.Arg488=)
c.1392G>A (p.Arg464=)
c.1356G>A (p.Arg452=)
c.1353G>A (p.Arg451=)
c.783G>A (p.Arg261=)
n.1772-2853C>T
c.1308G>A (p.Arg436=)
c.816G>A (p.Arg272=)
2g.27364572C>ACA346196752EIF2B4,GTF3C2-AS2c.1400G>T (p.Arg467Leu)
c.*666G>T (n.*666G>T)
c.1397G>T (p.Arg466Leu)
c.1460G>T (p.Arg487Leu)
n.393G>T
c.1463G>T (p.Arg488Leu)
c.1391G>T (p.Arg464Leu)
c.1355G>T (p.Arg452Leu)
c.1352G>T (p.Arg451Leu)
c.782G>T (p.Arg261Leu)
n.1772-2852C>A
c.1307G>T (p.Arg436Leu)
c.815G>T (p.Arg272Leu)
2g.27364572C=CA1240242833EIF2B4,GTF3C2-AS2c.1400G= (p.Arg467=)
c.*666G= (n.*666G=)
c.1397G= (p.Arg466=)
c.1460G= (p.Arg487=)
n.393G=
c.1463G= (p.Arg488=)
c.1391G= (p.Arg464=)
c.1355G= (p.Arg452=)
c.1352G= (p.Arg451=)
c.782G= (p.Arg261=)
n.1772-2852C=
c.1307G= (p.Arg436=)
c.815G= (p.Arg272=)
2g.27364572C>GCA346196753EIF2B4,GTF3C2-AS2c.1400G>C (p.Arg467Pro)
c.*666G>C (n.*666G>C)
c.1397G>C (p.Arg466Pro)
c.1460G>C (p.Arg487Pro)
n.393G>C
c.1463G>C (p.Arg488Pro)
c.1391G>C (p.Arg464Pro)
c.1355G>C (p.Arg452Pro)
c.1352G>C (p.Arg451Pro)
c.782G>C (p.Arg261Pro)
n.1772-2852C>G
c.1307G>C (p.Arg436Pro)
c.815G>C (p.Arg272Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.27364572C>TCA1576578EIF2B4,GTF3C2-AS2c.1400G>A (p.Arg467Gln)
c.*666G>A (n.*666G>A)
c.1397G>A (p.Arg466Gln)
c.1460G>A (p.Arg487Gln)
n.393G>A
c.1463G>A (p.Arg488Gln)
c.1391G>A (p.Arg464Gln)
c.1355G>A (p.Arg452Gln)
c.1352G>A (p.Arg451Gln)
c.782G>A (p.Arg261Gln)
n.1772-2852C>T
c.1307G>A (p.Arg436Gln)
c.815G>A (p.Arg272Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.27364573G>ACA1576579EIF2B4,GTF3C2-AS2c.1399C>T (p.Arg467Trp)
c.*665C>T (n.*665C>T)
c.1396C>T (p.Arg466Trp)
c.1459C>T (p.Arg487Trp)
n.392C>T
c.1462C>T (p.Arg488Trp)
c.1390C>T (p.Arg464Trp)
c.1354C>T (p.Arg452Trp)
c.1351C>T (p.Arg451Trp)
c.781C>T (p.Arg261Trp)
n.1772-2851G>A
c.1306C>T (p.Arg436Trp)
c.814C>T (p.Arg272Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364573G>CCA346196754EIF2B4,GTF3C2-AS2c.1399C>G (p.Arg467Gly)
c.*665C>G (n.*665C>G)
c.1396C>G (p.Arg466Gly)
c.1459C>G (p.Arg487Gly)
n.392C>G
c.1462C>G (p.Arg488Gly)
c.1390C>G (p.Arg464Gly)
c.1354C>G (p.Arg452Gly)
c.1351C>G (p.Arg451Gly)
c.781C>G (p.Arg261Gly)
n.1772-2851G>C
c.1306C>G (p.Arg436Gly)
c.814C>G (p.Arg272Gly)
2g.27364573G=CA1240242834EIF2B4,GTF3C2-AS2c.1399C= (p.Arg467=)
c.*665C= (n.*665C=)
c.1396C= (p.Arg466=)
c.1459C= (p.Arg487=)
n.392C=
c.1462C= (p.Arg488=)
c.1390C= (p.Arg464=)
c.1354C= (p.Arg452=)
c.1351C= (p.Arg451=)
c.781C= (p.Arg261=)
n.1772-2851G=
c.1306C= (p.Arg436=)
c.814C= (p.Arg272=)
2g.27364573G>TCA425409818EIF2B4,GTF3C2-AS2c.1399C>A (p.Arg467=)
c.*665C>A (n.*665C>A)
c.1396C>A (p.Arg466=)
c.1459C>A (p.Arg487=)
n.392C>A
c.1462C>A (p.Arg488=)
c.1390C>A (p.Arg464=)
c.1354C>A (p.Arg452=)
c.1351C>A (p.Arg451=)
c.781C>A (p.Arg261=)
n.1772-2851G>T
c.1306C>A (p.Arg436=)
c.814C>A (p.Arg272=)
2g.27364574C>ACA346196755EIF2B4,GTF3C2-AS2c.1398G>T (p.Lys466Asn)
c.*664G>T (n.*664G>T)
c.1395G>T (p.Lys465Asn)
c.1458G>T (p.Lys486Asn)
n.391G>T
c.1461G>T (p.Lys487Asn)
c.1389G>T (p.Lys463Asn)
c.1353G>T (p.Lys451Asn)
c.1350G>T (p.Lys450Asn)
c.780G>T (p.Lys260Asn)
n.1772-2850C>A
c.1305G>T (p.Lys435Asn)
c.813G>T (p.Lys271Asn)
2g.27364574C=CA1240242835EIF2B4,GTF3C2-AS2c.1398G= (p.Lys466=)
c.*664G= (n.*664G=)
c.1395G= (p.Lys465=)
c.1458G= (p.Lys486=)
n.391G=
c.1461G= (p.Lys487=)
c.1389G= (p.Lys463=)
c.1353G= (p.Lys451=)
c.1350G= (p.Lys450=)
c.780G= (p.Lys260=)
n.1772-2850C=
c.1305G= (p.Lys435=)
c.813G= (p.Lys271=)
2g.27364574C>GCA346196756EIF2B4,GTF3C2-AS2c.1398G>C (p.Lys466Asn)
c.*664G>C (n.*664G>C)
c.1395G>C (p.Lys465Asn)
c.1458G>C (p.Lys486Asn)
n.391G>C
c.1461G>C (p.Lys487Asn)
c.1389G>C (p.Lys463Asn)
c.1353G>C (p.Lys451Asn)
c.1350G>C (p.Lys450Asn)
c.780G>C (p.Lys260Asn)
n.1772-2850C>G
c.1305G>C (p.Lys435Asn)
c.813G>C (p.Lys271Asn)
2g.27364574C>TCA425409819EIF2B4,GTF3C2-AS2c.1398G>A (p.Lys466=)
c.*664G>A (n.*664G>A)
c.1395G>A (p.Lys465=)
c.1458G>A (p.Lys486=)
n.391G>A
c.1461G>A (p.Lys487=)
c.1389G>A (p.Lys463=)
c.1353G>A (p.Lys451=)
c.1350G>A (p.Lys450=)
c.780G>A (p.Lys260=)
n.1772-2850C>T
c.1305G>A (p.Lys435=)
c.813G>A (p.Lys271=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27364575T>ACA346196757EIF2B4,GTF3C2-AS2c.1397A>T (p.Lys466Met)
c.*663A>T (n.*663A>T)
c.1394A>T (p.Lys465Met)
c.1457A>T (p.Lys486Met)
n.390A>T
c.1460A>T (p.Lys487Met)
c.1388A>T (p.Lys463Met)
c.1352A>T (p.Lys451Met)
c.1349A>T (p.Lys450Met)
c.779A>T (p.Lys260Met)
n.1772-2849T>A
c.1304A>T (p.Lys435Met)
c.812A>T (p.Lys271Met)
2g.27364575T>CCA346196759EIF2B4,GTF3C2-AS2c.1397A>G (p.Lys466Arg)
c.*663A>G (n.*663A>G)
c.1394A>G (p.Lys465Arg)
c.1457A>G (p.Lys486Arg)
n.390A>G
c.1460A>G (p.Lys487Arg)
c.1388A>G (p.Lys463Arg)
c.1352A>G (p.Lys451Arg)
c.1349A>G (p.Lys450Arg)
c.779A>G (p.Lys260Arg)
n.1772-2849T>C
c.1304A>G (p.Lys435Arg)
c.812A>G (p.Lys271Arg)
2g.27364575T>GCA346196758EIF2B4,GTF3C2-AS2c.1397A>C (p.Lys466Thr)
c.*663A>C (n.*663A>C)
c.1394A>C (p.Lys465Thr)
c.1457A>C (p.Lys486Thr)
n.390A>C
c.1460A>C (p.Lys487Thr)
c.1388A>C (p.Lys463Thr)
c.1352A>C (p.Lys451Thr)
c.1349A>C (p.Lys450Thr)
c.779A>C (p.Lys260Thr)
n.1772-2849T>G
c.1304A>C (p.Lys435Thr)
c.812A>C (p.Lys271Thr)
2g.27364576T>ACA346196760EIF2B4,GTF3C2-AS2c.1396A>T (p.Lys466Ter)
c.*662A>T (n.*662A>T)
c.1393A>T (p.Lys465Ter)
c.1456A>T (p.Lys486Ter)
n.389A>T
c.1459A>T (p.Lys487Ter)
c.1387A>T (p.Lys463Ter)
c.1351A>T (p.Lys451Ter)
c.1348A>T (p.Lys450Ter)
c.778A>T (p.Lys260Ter)
n.1772-2848T>A
c.1303A>T (p.Lys435Ter)
c.811A>T (p.Lys271Ter)
2g.27364576T>CCA346196762EIF2B4,GTF3C2-AS2c.1396A>G (p.Lys466Glu)
c.*662A>G (n.*662A>G)
c.1393A>G (p.Lys465Glu)
c.1456A>G (p.Lys486Glu)
n.389A>G
c.1459A>G (p.Lys487Glu)
c.1387A>G (p.Lys463Glu)
c.1351A>G (p.Lys451Glu)
c.1348A>G (p.Lys450Glu)
c.778A>G (p.Lys260Glu)
n.1772-2848T>C
c.1303A>G (p.Lys435Glu)
c.811A>G (p.Lys271Glu)
2g.27364576T>GCA346196761EIF2B4,GTF3C2-AS2c.1396A>C (p.Lys466Gln)
c.*662A>C (n.*662A>C)
c.1393A>C (p.Lys465Gln)
c.1456A>C (p.Lys486Gln)
n.389A>C
c.1459A>C (p.Lys487Gln)
c.1387A>C (p.Lys463Gln)
c.1351A>C (p.Lys451Gln)
c.1348A>C (p.Lys450Gln)
c.778A>C (p.Lys260Gln)
n.1772-2848T>G
c.1303A>C (p.Lys435Gln)
c.811A>C (p.Lys271Gln)
2g.27364577A>CCA346196763EIF2B4,GTF3C2-AS2c.1395T>G (p.Cys465Trp)
c.*661T>G (n.*661T>G)
c.1392T>G (p.Cys464Trp)
c.1455T>G (p.Cys485Trp)
n.388T>G
c.1458T>G (p.Cys486Trp)
c.1386T>G (p.Cys462Trp)
c.1350T>G (p.Cys450Trp)
c.1347T>G (p.Cys449Trp)
c.777T>G (p.Cys259Trp)
n.1772-2847A>C
c.1302T>G (p.Cys434Trp)
c.810T>G (p.Cys270Trp)
2g.27364577A>GCA425409820EIF2B4,GTF3C2-AS2c.1395T>C (p.Cys465=)
c.*661T>C (n.*661T>C)
c.1392T>C (p.Cys464=)
c.1455T>C (p.Cys485=)
n.388T>C
c.1458T>C (p.Cys486=)
c.1386T>C (p.Cys462=)
c.1350T>C (p.Cys450=)
c.1347T>C (p.Cys449=)
c.777T>C (p.Cys259=)
n.1772-2847A>G
c.1302T>C (p.Cys434=)
c.810T>C (p.Cys270=)
2g.27364577A>TCA346196764EIF2B4,GTF3C2-AS2c.1395T>A (p.Cys465Ter)
c.*661T>A (n.*661T>A)
c.1392T>A (p.Cys464Ter)
c.1455T>A (p.Cys485Ter)
n.388T>A
c.1458T>A (p.Cys486Ter)
c.1386T>A (p.Cys462Ter)
c.1350T>A (p.Cys450Ter)
c.1347T>A (p.Cys449Ter)
c.777T>A (p.Cys259Ter)
n.1772-2847A>T
c.1302T>A (p.Cys434Ter)
c.810T>A (p.Cys270Ter)
2g.27364578C>ACA346196765EIF2B4,GTF3C2-AS2c.1394G>T (p.Cys465Phe)
c.*660G>T (n.*660G>T)
c.1391G>T (p.Cys464Phe)
c.1454G>T (p.Cys485Phe)
n.387G>T
c.1457G>T (p.Cys486Phe)
c.1385G>T (p.Cys462Phe)
c.1349G>T (p.Cys450Phe)
c.1346G>T (p.Cys449Phe)
c.776G>T (p.Cys259Phe)
n.1772-2846C>A
c.1301G>T (p.Cys434Phe)
c.809G>T (p.Cys270Phe)
2g.27364578C>GCA346196766EIF2B4,GTF3C2-AS2c.1394G>C (p.Cys465Ser)
c.*660G>C (n.*660G>C)
c.1391G>C (p.Cys464Ser)
c.1454G>C (p.Cys485Ser)
n.387G>C
c.1457G>C (p.Cys486Ser)
c.1385G>C (p.Cys462Ser)
c.1349G>C (p.Cys450Ser)
c.1346G>C (p.Cys449Ser)
c.776G>C (p.Cys259Ser)
n.1772-2846C>G
c.1301G>C (p.Cys434Ser)
c.809G>C (p.Cys270Ser)
2g.27364578C>TCA346196767EIF2B4,GTF3C2-AS2c.1394G>A (p.Cys465Tyr)
c.*660G>A (n.*660G>A)
c.1391G>A (p.Cys464Tyr)
c.1454G>A (p.Cys485Tyr)
n.387G>A
c.1457G>A (p.Cys486Tyr)
c.1385G>A (p.Cys462Tyr)
c.1349G>A (p.Cys450Tyr)
c.1346G>A (p.Cys449Tyr)
c.776G>A (p.Cys259Tyr)
n.1772-2846C>T
c.1301G>A (p.Cys434Tyr)
c.809G>A (p.Cys270Tyr)
 gnomAD v4
2g.27364579A=CA1240242836EIF2B4,GTF3C2-AS2c.1393T= (p.Cys465=)
c.*659T= (n.*659T=)
c.1390T= (p.Cys464=)
c.1453T= (p.Cys485=)
n.386T=
c.1456T= (p.Cys486=)
c.1384T= (p.Cys462=)
c.1348T= (p.Cys450=)
c.1345T= (p.Cys449=)
c.775T= (p.Cys259=)
n.1772-2845A=
c.1300T= (p.Cys434=)
c.808T= (p.Cys270=)
2g.27364579A>CCA346196768EIF2B4,GTF3C2-AS2c.1393T>G (p.Cys465Gly)
c.*659T>G (n.*659T>G)
c.1390T>G (p.Cys464Gly)
c.1453T>G (p.Cys485Gly)
n.386T>G
c.1456T>G (p.Cys486Gly)
c.1384T>G (p.Cys462Gly)
c.1348T>G (p.Cys450Gly)
c.1345T>G (p.Cys449Gly)
c.775T>G (p.Cys259Gly)
n.1772-2845A>C
c.1300T>G (p.Cys434Gly)
c.808T>G (p.Cys270Gly)
2g.27364579A>GCA116652EIF2B4,GTF3C2-AS2c.1393T>C (p.Cys465Arg)
c.*659T>C (n.*659T>C)
c.1390T>C (p.Cys464Arg)
c.1453T>C (p.Cys485Arg)
n.386T>C
c.1456T>C (p.Cys486Arg)
c.1384T>C (p.Cys462Arg)
c.1348T>C (p.Cys450Arg)
c.1345T>C (p.Cys449Arg)
c.775T>C (p.Cys259Arg)
n.1772-2845A>G
c.1300T>C (p.Cys434Arg)
c.808T>C (p.Cys270Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.27364579A>TCA346196769EIF2B4,GTF3C2-AS2c.1393T>A (p.Cys465Ser)
c.*659T>A (n.*659T>A)
c.1390T>A (p.Cys464Ser)
c.1453T>A (p.Cys485Ser)
n.386T>A
c.1456T>A (p.Cys486Ser)
c.1384T>A (p.Cys462Ser)
c.1348T>A (p.Cys450Ser)
c.1345T>A (p.Cys449Ser)
c.775T>A (p.Cys259Ser)
n.1772-2845A>T
c.1300T>A (p.Cys434Ser)
c.808T>A (p.Cys270Ser)

Number of alleles fetched