Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.27364484A= | CA1240242795 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364484A>C | CA425409756 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364484A>G | CA425409755 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364484A>T | CA425409754 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364485A>C | CA346196578 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364485A>G | CA346196576 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364485A>T | CA346196577 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364486G>A | CA346196579 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364486G>C | CA346196580 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364486G>T | CA346196581 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364487C>A | CA346196582 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364487C>G | CA346196583 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364487C>T | CA425409757 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364488T>A | CA346196584 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364488T>C | CA346196585 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364488T>G | CA346196586 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364488T= | CA1240242796 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364489C>A | CA346196587 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364489C= | CA1240242797 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364489C>G | CA1576561 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364489C>T | CA346196588 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364490T>A | CA425409758 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364490T>C | CA425409759 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364490T>G | CA425409760 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364490_27364491delinsTG | CA1240242798 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364491G>A | CA346196590 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364491G>C | CA346196591 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364491G= | CA1240242799 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364491G>T | CA346196589 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364495dup | CA2832539381 | EIF2B4,GTF3C2-AS2 | c.1481dup (p.Glu495ArgfsTer28) c.*747dup (n.*747dup) c.1478dup (p.Glu494ArgfsTer28) c.1541dup (p.Glu515ArgfsTer28) n.474dup c.1544dup (p.Glu516ArgfsTer28) c.1472dup (p.Glu492ArgfsTer28) c.1436dup (p.Glu480ArgfsTer28) c.1433dup (p.Glu479ArgfsTer28) c.863dup (p.Glu289ArgfsTer28) n.1772-2929dup c.1388dup (p.Glu464ArgfsTer28) c.896dup (p.Glu300ArgfsTer28) | |
2 | g.27364495del | CA645539327 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364492G>A | CA346196594 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364492G>C | CA346196592 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364492G= | CA1240242800 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364492G>T | CA346196593 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364493G>A | CA425409761 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364493G>C | CA425409762 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364493G= | CA1240242801 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364493G>T | CA1576562 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364494G>A | CA346196595 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364494G>C | CA346196596 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364494G= | CA1240242802 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364494G>T | CA1576563 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364495G>A | CA1576565 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364495G>C | CA346196597 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364495G= | CA1240242803 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364495G>T | CA1576564 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364496A= | CA1240242804 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364496A>C | CA425409763 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364496A>G | CA425409764 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364496A>T | CA425409765 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364497G>A | CA346196598 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364497G>C | CA346196599 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364497G>T | CA346196600 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364498T>A | CA346196603 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364498T>C | CA346196602 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364498T>G | CA346196601 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364499C>A | CA425409766 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364499C= | CA1240242805 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364499C>G | CA425409767 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364499C>T | CA425409768 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364500A>C | CA346196604 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364500A>G | CA346196605 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364500A>T | CA346196606 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364501C>A | CA346196607 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364501C= | CA1240242806 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364501C>G | CA346196608 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364501C>T | CA1576566 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364502A= | CA1240242807 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364502A>C | CA346196609 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364502A>G | CA1576567 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364502A>T | CA346196610 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364503T>A | CA346196611 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364503T>C | CA346196612 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364503T>G | CA346196613 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364504C>A | CA346196616 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364504C>G | CA346196615 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364504C>T | CA346196614 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364505A>C | CA346196617 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364505A>G | CA425409769 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364505A>T | CA346196618 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364506T>A | CA346196619 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364506T>C | CA346196620 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364506T>G | CA346196621 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364507A= | CA1240242808 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364507A>C | CA346196622 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364507A>G | CA116653 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364507A>T | CA346196623 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364508G>A | CA44509150 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364508G>C | CA425409770 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364508G= | CA1240242809 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364508G>T | CA425409771 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364509A>C | CA346196624 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364509A>G | CA346196625 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364509A>T | CA346196626 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364510C>A | CA346196628 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364510C= | CA1240242810 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364510C>G | CA346196629 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364510C>T | CA346196627 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364511T>A | CA425409772 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364511T>C | CA425409773 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364511T>G | CA425409774 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364512A>C | CA346196630 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364512A>G | CA346196631 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364512A>T | CA346196632 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364513G>A | CA1576568 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364513G>C | CA346196633 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364513G= | CA1240242811 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364513G>T | CA346196634 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364514A>C | CA346196635 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364514A>G | CA425409775 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364514A>T | CA346196636 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364515T>A | CA346196637 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364515T>C | CA346196638 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364515T>G | CA346196639 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364515T= | CA1240242812 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364516T>A | CA346196640 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364516T>C | CA346196641 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364516T>G | CA346196642 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364517C>A | CA346196644 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364517C>G | CA346196643 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364517C>T | CA425409776 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364521_27364523del | CA2658336133 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364518A>C | CA346196645 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364518A>G | CA346196647 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364518A>T | CA346196646 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364519A= | CA1240242813 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364519A>C | CA346196648 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364519A>G | CA425409777 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364519A>T | CA346196649 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364520C>A | CA346196650 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364520C>G | CA346196651 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364520C>T | CA425409778 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364521A>C | CA346196652 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364521A>G | CA346196653 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364521A>T | CA346196654 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364522del | CA2749264941 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364522A>C | CA346196655 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364522A>G | CA425409779 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364522A>T | CA346196656 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364523C>A | CA425409780 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364523C>G | CA425409781 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364523C>T | CA425409782 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364524C>A | CA346196657 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364524C= | CA1240242814 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364524C>G | CA346196658 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364524C>T | CA1576569 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364525G>A | CA44509202 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364525G>C | CA346196659 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364525G= | CA1240242815 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364525G>T | CA425409783 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364526T>A | CA425409784 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364526T>C | CA425409785 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364526T>G | CA425409786 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364527A>C | CA346196662 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364527A>G | CA346196660 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364527A>T | CA346196661 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364528G>A | CA425409787 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364528G>C | CA346196663 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364528G>T | CA346196664 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364529G>A | CA425409788 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364529G>C | CA425409789 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364529G>T | CA425409790 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364530G>A | CA346196665 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364530G>C | CA1576570 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364530G= | CA1240242816 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364530G>T | CA346196666 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364531A>C | CA346196667 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364531A>G | CA346196668 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364531A>T | CA346196669 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364532T>A | CA425409791 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364532T>C | CA425409792 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364532T>G | CA425409793 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364533G>A | CA44509227 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364533G>C | CA44509233 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364533G= | CA1240242817 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364533G>T | CA346196670 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364534C>A | CA346196672 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364534C= | CA1240242818 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364534C>G | CA346196671 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364534C>T | CA1576571 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364535G>A | CA425409794 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364535G>C | CA346196673 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364535G= | CA1240242819 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364535G>T | CA346196674 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364536T>A | CA346196675 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364536T>C | CA346196676 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364536T>G | CA346196677 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364536T= | CA1240242820 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364537G>A | CA346196678 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364537G>C | CA346196679 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364537G>T | CA346196680 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364538G>A | CA425409795 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364538G>C | CA346196681 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364538G>T | CA346196682 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364539T>A | CA346196683 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364539T>C | CA346196684 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364539T>G | CA346196685 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364540T>A | CA346196688 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364540T>C | CA346196686 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364540T>G | CA346196687 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364541C>A | CA346196689 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364541C= | CA1240242821 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364541C>G | CA1576572 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364541C>T | CA425409796 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364542T>A | CA346196690 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364542T>C | CA346196691 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364542T>G | CA346196692 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364543G>A | CA346196693 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364543G>C | CA346196694 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364543G>T | CA346196695 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364544C>A | CA346196696 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364544C>G | CA346196697 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364544C>T | CA346196698 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364545C>A | CA346196701 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364545C>G | CA346196700 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364545C>T | CA346196699 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364545_27364546del | CA2658336134 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364546A>C | CA346196702 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364546A>G | CA346196704 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364546A>T | CA346196703 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364547G>A | CA425409797 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364547G>C | CA346196705 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364547G>T | CA346196706 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364548T>A | CA346196707 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364548T>C | CA346196708 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364548T>G | CA346196709 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364549T>A | CA346196710 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364549T>C | CA346196711 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364549T>G | CA346196712 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364550A>C | CA425409798 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364550A>G | CA425409799 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364550A>T | CA425409800 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364551G>A | CA346196713 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364551G>C | CA1576573 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364551G= | CA1240242822 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364551G>T | CA346196714 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364552C>A | CA346196717 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364552C>G | CA346196716 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364552C>T | CA346196715 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364553C>A | CA425409801 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364553C>G | CA425409802 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364553C>T | CA425409803 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364554A>C | CA346196718 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364554A>G | CA346196719 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364554A>T | CA346196720 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364555G>A | CA425409804 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364555G>C | CA346196721 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364555G>T | CA346196722 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364556C>A | CA425409806 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364556C= | CA1240242823 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364556C>G | CA425409805 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364556C>T | CA1576574 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364557G>A | CA346196723 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364557G>C | CA346196724 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364557G= | CA1240242824 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364557G>T | CA346196725 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364558C>A | CA346196726 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364558C>G | CA346196727 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364558C>T | CA346196728 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364559A= | CA1240242825 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364559A>C | CA425409809 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364559A>G | CA425409808 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364559A>T | CA425409807 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364560A= | CA1240242826 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364560A>C | CA346196729 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364560A>G | CA44509252 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364560A>T | CA1576575 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364561C>A | CA1576576 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364561C= | CA1240242827 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364561C>G | CA346196730 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364561C>T | CA346196731 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364562A>C | CA346196732 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364562A>G | CA425409810 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364562A>T | CA346196733 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364563T>A | CA346196734 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364563T>C | CA44509298 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364563T>G | CA346196735 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364563T= | CA1240242828 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364564G>A | CA346196736 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364564G>C | CA346196737 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364564G= | CA1240242829 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364564G>T | CA346196738 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364565T>A | CA346196739 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364565T>C | CA425409811 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364565T>G | CA346196740 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364565T= | CA1240242830 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364566T>A | CA346196743 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364566T>C | CA346196741 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364566T>G | CA346196742 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364567C>A | CA346196744 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364567C>G | CA346196745 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364567C>T | CA346196746 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364568T>A | CA425409812 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364568T>C | CA425409813 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364568T>G | CA425409814 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364569C>A | CA346196747 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364569C= | CA1240242831 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364569C>G | CA346196748 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364569C>T | CA1576577 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364572dup | CA2840906977 | EIF2B4,GTF3C2-AS2 | c.1403dup (p.Glu469ArgfsTer7) c.*669dup (n.*669dup) c.1400dup (p.Glu468ArgfsTer7) c.1463dup (p.Glu489ArgfsTer7) n.396dup c.1466dup (p.Glu490ArgfsTer7) c.1394dup (p.Glu466ArgfsTer7) c.1358dup (p.Glu454ArgfsTer7) c.1355dup (p.Glu453ArgfsTer7) c.785dup (p.Glu263ArgfsTer7) n.1772-2852dup c.1310dup (p.Glu438ArgfsTer7) c.818dup (p.Glu274ArgfsTer7) | |
2 | g.27364570C>A | CA346196749 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364570C= | CA1240242832 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364570C>G | CA346196750 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364570C>T | CA346196751 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364571C>A | CA425409815 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364571C>G | CA425409816 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364571C>T | CA425409817 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364572C>A | CA346196752 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364572C= | CA1240242833 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364572C>G | CA346196753 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364572C>T | CA1576578 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364573G>A | CA1576579 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364573G>C | CA346196754 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364573G= | CA1240242834 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364573G>T | CA425409818 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364574C>A | CA346196755 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364574C= | CA1240242835 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364574C>G | CA346196756 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364574C>T | CA425409819 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364575T>A | CA346196757 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364575T>C | CA346196759 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364575T>G | CA346196758 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364576T>A | CA346196760 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364576T>C | CA346196762 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364576T>G | CA346196761 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364577A>C | CA346196763 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364577A>G | CA425409820 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364577A>T | CA346196764 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364578C>A | CA346196765 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364578C>G | CA346196766 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364578C>T | CA346196767 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364579A= | CA1240242836 | EIF2B4,GTF3C2-AS2 | c.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=) | |
2 | g.27364579A>C | CA346196768 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364579A>G | CA116652 | EIF2B4,GTF3C2-AS2 | c.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 |
2 | g.27364579A>T | CA346196769 | EIF2B4,GTF3C2-AS2 | c.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) | |
2 | g.27364580T>A | CA346196770 | EIF2B4,GTF3C2-AS2 | c.1392A>T (p.Gln464His) c.*658A>T (n.*658A>T) c.1389A>T (p.Gln463His) c.1452A>T (p.Gln484His) n.385A>T c.1455A>T (p.Gln485His) c.1383A>T (p.Gln461His) c.1347A>T (p.Gln449His) c.1344A>T (p.Gln448His) c.774A>T (p.Gln258His) n.1772-2844T>A c.1299A>T (p.Gln433His) c.807A>T (p.Gln269His) | dbSNP |
2 | g.27364580T>C | CA1576580 | EIF2B4,GTF3C2-AS2 | c.1392A>G (p.Gln464=) c.*658A>G (n.*658A>G) c.1389A>G (p.Gln463=) c.1452A>G (p.Gln484=) n.385A>G c.1455A>G (p.Gln485=) c.1383A>G (p.Gln461=) c.1347A>G (p.Gln449=) c.1344A>G (p.Gln448=) c.774A>G (p.Gln258=) n.1772-2844T>C c.1299A>G (p.Gln433=) c.807A>G (p.Gln269=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.27364580T>G | CA346196771 | EIF2B4,GTF3C2-AS2 | c.1392A>C (p.Gln464His) c.*658A>C (n.*658A>C) c.1389A>C (p.Gln463His) c.1452A>C (p.Gln484His) n.385A>C c.1455A>C (p.Gln485His) c.1383A>C (p.Gln461His) c.1347A>C (p.Gln449His) c.1344A>C (p.Gln448His) c.774A>C (p.Gln258His) n.1772-2844T>G c.1299A>C (p.Gln433His) c.807A>C (p.Gln269His) | |
2 | g.27364580T= | CA1240242837 | EIF2B4,GTF3C2-AS2 | c.1392A= (p.Gln464=) c.*658A= (n.*658A=) c.1389A= (p.Gln463=) c.1452A= (p.Gln484=) n.385A= c.1455A= (p.Gln485=) c.1383A= (p.Gln461=) c.1347A= (p.Gln449=) c.1344A= (p.Gln448=) c.774A= (p.Gln258=) n.1772-2844T= c.1299A= (p.Gln433=) c.807A= (p.Gln269=) | |
2 | g.27364581T>A | CA346196774 | EIF2B4,GTF3C2-AS2 | c.1391A>T (p.Gln464Leu) c.*657A>T (n.*657A>T) c.1388A>T (p.Gln463Leu) c.1451A>T (p.Gln484Leu) n.384A>T c.1454A>T (p.Gln485Leu) c.1382A>T (p.Gln461Leu) c.1346A>T (p.Gln449Leu) c.1343A>T (p.Gln448Leu) c.773A>T (p.Gln258Leu) n.1772-2843T>A c.1298A>T (p.Gln433Leu) c.806A>T (p.Gln269Leu) | |
2 | g.27364581T>C | CA346196772 | EIF2B4,GTF3C2-AS2 | c.1391A>G (p.Gln464Arg) c.*657A>G (n.*657A>G) c.1388A>G (p.Gln463Arg) c.1451A>G (p.Gln484Arg) n.384A>G c.1454A>G (p.Gln485Arg) c.1382A>G (p.Gln461Arg) c.1346A>G (p.Gln449Arg) c.1343A>G (p.Gln448Arg) c.773A>G (p.Gln258Arg) n.1772-2843T>C c.1298A>G (p.Gln433Arg) c.806A>G (p.Gln269Arg) | |
2 | g.27364581T>G | CA346196773 | EIF2B4,GTF3C2-AS2 | c.1391A>C (p.Gln464Pro) c.*657A>C (n.*657A>C) c.1388A>C (p.Gln463Pro) c.1451A>C (p.Gln484Pro) n.384A>C c.1454A>C (p.Gln485Pro) c.1382A>C (p.Gln461Pro) c.1346A>C (p.Gln449Pro) c.1343A>C (p.Gln448Pro) c.773A>C (p.Gln258Pro) n.1772-2843T>G c.1298A>C (p.Gln433Pro) c.806A>C (p.Gln269Pro) | |
2 | g.27364582G>A | CA346196775 | EIF2B4,GTF3C2-AS2 | c.1390C>T (p.Gln464Ter) c.*656C>T (n.*656C>T) c.1387C>T (p.Gln463Ter) c.1450C>T (p.Gln484Ter) n.383C>T c.1453C>T (p.Gln485Ter) c.1381C>T (p.Gln461Ter) c.1345C>T (p.Gln449Ter) c.1342C>T (p.Gln448Ter) c.772C>T (p.Gln258Ter) n.1772-2842G>A c.1297C>T (p.Gln433Ter) c.805C>T (p.Gln269Ter) | |
2 | g.27364582G>C | CA346196776 | EIF2B4,GTF3C2-AS2 | c.1390C>G (p.Gln464Glu) c.*656C>G (n.*656C>G) c.1387C>G (p.Gln463Glu) c.1450C>G (p.Gln484Glu) n.383C>G c.1453C>G (p.Gln485Glu) c.1381C>G (p.Gln461Glu) c.1345C>G (p.Gln449Glu) c.1342C>G (p.Gln448Glu) c.772C>G (p.Gln258Glu) n.1772-2842G>C c.1297C>G (p.Gln433Glu) c.805C>G (p.Gln269Glu) | gnomAD v4 |
2 | g.27364582G>T | CA346196777 | EIF2B4,GTF3C2-AS2 | c.1390C>A (p.Gln464Lys) c.*656C>A (n.*656C>A) c.1387C>A (p.Gln463Lys) c.1450C>A (p.Gln484Lys) n.383C>A c.1453C>A (p.Gln485Lys) c.1381C>A (p.Gln461Lys) c.1345C>A (p.Gln449Lys) c.1342C>A (p.Gln448Lys) c.772C>A (p.Gln258Lys) n.1772-2842G>T c.1297C>A (p.Gln433Lys) c.805C>A (p.Gln269Lys) | |
2 | g.27364583C>A | CA425409825 | EIF2B4,GTF3C2-AS2 | c.1389G>T (p.Leu463=) c.*655G>T (n.*655G>T) c.1386G>T (p.Leu462=) c.1449G>T (p.Leu483=) n.382G>T c.1452G>T (p.Leu484=) c.1380G>T (p.Leu460=) c.1344G>T (p.Leu448=) c.1341G>T (p.Leu447=) c.771G>T (p.Leu257=) n.1772-2841C>A c.1296G>T (p.Leu432=) c.804G>T (p.Leu268=) | |
2 | g.27364583C>G | CA425409824 | EIF2B4,GTF3C2-AS2 | c.1389G>C (p.Leu463=) c.*655G>C (n.*655G>C) c.1386G>C (p.Leu462=) c.1449G>C (p.Leu483=) n.382G>C c.1452G>C (p.Leu484=) c.1380G>C (p.Leu460=) c.1344G>C (p.Leu448=) c.1341G>C (p.Leu447=) c.771G>C (p.Leu257=) n.1772-2841C>G c.1296G>C (p.Leu432=) c.804G>C (p.Leu268=) | |
2 | g.27364583C>T | CA425409823 | EIF2B4,GTF3C2-AS2 | c.1389G>A (p.Leu463=) c.*655G>A (n.*655G>A) c.1386G>A (p.Leu462=) c.1449G>A (p.Leu483=) n.382G>A c.1452G>A (p.Leu484=) c.1380G>A (p.Leu460=) c.1344G>A (p.Leu448=) c.1341G>A (p.Leu447=) c.771G>A (p.Leu257=) n.1772-2841C>T c.1296G>A (p.Leu432=) c.804G>A (p.Leu268=) | ClinVar gnomAD v4 |
2 | g.27364584A>C | CA346196778 | EIF2B4,GTF3C2-AS2 | c.1388T>G (p.Leu463Arg) c.*654T>G (n.*654T>G) c.1385T>G (p.Leu462Arg) c.1448T>G (p.Leu483Arg) n.381T>G c.1451T>G (p.Leu484Arg) c.1379T>G (p.Leu460Arg) c.1343T>G (p.Leu448Arg) c.1340T>G (p.Leu447Arg) c.770T>G (p.Leu257Arg) n.1772-2840A>C c.1295T>G (p.Leu432Arg) c.803T>G (p.Leu268Arg) | |
2 | g.27364584A>G | CA346196779 | EIF2B4,GTF3C2-AS2 | c.1388T>C (p.Leu463Pro) c.*654T>C (n.*654T>C) c.1385T>C (p.Leu462Pro) c.1448T>C (p.Leu483Pro) n.381T>C c.1451T>C (p.Leu484Pro) c.1379T>C (p.Leu460Pro) c.1343T>C (p.Leu448Pro) c.1340T>C (p.Leu447Pro) c.770T>C (p.Leu257Pro) n.1772-2840A>G c.1295T>C (p.Leu432Pro) c.803T>C (p.Leu268Pro) | |
2 | g.27364584A>T | CA346196780 | EIF2B4,GTF3C2-AS2 | c.1388T>A (p.Leu463Gln) c.*654T>A (n.*654T>A) c.1385T>A (p.Leu462Gln) c.1448T>A (p.Leu483Gln) n.381T>A c.1451T>A (p.Leu484Gln) c.1379T>A (p.Leu460Gln) c.1343T>A (p.Leu448Gln) c.1340T>A (p.Leu447Gln) c.770T>A (p.Leu257Gln) n.1772-2840A>T c.1295T>A (p.Leu432Gln) c.803T>A (p.Leu268Gln) |