Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27364525G>ACA44509202EIF2B4,GTF3C2-AS2c.1447C>T (p.Arg483Trp)
c.*713C>T (n.*713C>T)
c.1444C>T (p.Arg482Trp)
c.1507C>T (p.Arg503Trp)
n.440C>T
c.1510C>T (p.Arg504Trp)
c.1438C>T (p.Arg480Trp)
c.1402C>T (p.Arg468Trp)
c.1399C>T (p.Arg467Trp)
c.829C>T (p.Arg277Trp)
n.1772-2899G>A
c.1354C>T (p.Arg452Trp)
c.862C>T (p.Arg288Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.27364525G>CCA346196659EIF2B4,GTF3C2-AS2c.1447C>G (p.Arg483Gly)
c.*713C>G (n.*713C>G)
c.1444C>G (p.Arg482Gly)
c.1507C>G (p.Arg503Gly)
n.440C>G
c.1510C>G (p.Arg504Gly)
c.1438C>G (p.Arg480Gly)
c.1402C>G (p.Arg468Gly)
c.1399C>G (p.Arg467Gly)
c.829C>G (p.Arg277Gly)
n.1772-2899G>C
c.1354C>G (p.Arg452Gly)
c.862C>G (p.Arg288Gly)
2g.27364525G=CA1240242815EIF2B4,GTF3C2-AS2c.1447C= (p.Arg483=)
c.*713C= (n.*713C=)
c.1444C= (p.Arg482=)
c.1507C= (p.Arg503=)
n.440C=
c.1510C= (p.Arg504=)
c.1438C= (p.Arg480=)
c.1402C= (p.Arg468=)
c.1399C= (p.Arg467=)
c.829C= (p.Arg277=)
n.1772-2899G=
c.1354C= (p.Arg452=)
c.862C= (p.Arg288=)
2g.27364525G>TCA425409783EIF2B4,GTF3C2-AS2c.1447C>A (p.Arg483=)
c.*713C>A (n.*713C>A)
c.1444C>A (p.Arg482=)
c.1507C>A (p.Arg503=)
n.440C>A
c.1510C>A (p.Arg504=)
c.1438C>A (p.Arg480=)
c.1402C>A (p.Arg468=)
c.1399C>A (p.Arg467=)
c.829C>A (p.Arg277=)
n.1772-2899G>T
c.1354C>A (p.Arg452=)
c.862C>A (p.Arg288=)
 gnomAD v4
2g.27364526T>ACA425409784EIF2B4,GTF3C2-AS2c.1446A>T (p.Leu482=)
c.*712A>T (n.*712A>T)
c.1443A>T (p.Leu481=)
c.1506A>T (p.Leu502=)
n.439A>T
c.1509A>T (p.Leu503=)
c.1437A>T (p.Leu479=)
c.1401A>T (p.Leu467=)
c.1398A>T (p.Leu466=)
c.828A>T (p.Leu276=)
n.1772-2898T>A
c.1353A>T (p.Leu451=)
c.861A>T (p.Leu287=)
2g.27364526T>CCA425409785EIF2B4,GTF3C2-AS2c.1446A>G (p.Leu482=)
c.*712A>G (n.*712A>G)
c.1443A>G (p.Leu481=)
c.1506A>G (p.Leu502=)
n.439A>G
c.1509A>G (p.Leu503=)
c.1437A>G (p.Leu479=)
c.1401A>G (p.Leu467=)
c.1398A>G (p.Leu466=)
c.828A>G (p.Leu276=)
n.1772-2898T>C
c.1353A>G (p.Leu451=)
c.861A>G (p.Leu287=)
 gnomAD v4
2g.27364526T>GCA425409786EIF2B4,GTF3C2-AS2c.1446A>C (p.Leu482=)
c.*712A>C (n.*712A>C)
c.1443A>C (p.Leu481=)
c.1506A>C (p.Leu502=)
n.439A>C
c.1509A>C (p.Leu503=)
c.1437A>C (p.Leu479=)
c.1401A>C (p.Leu467=)
c.1398A>C (p.Leu466=)
c.828A>C (p.Leu276=)
n.1772-2898T>G
c.1353A>C (p.Leu451=)
c.861A>C (p.Leu287=)
2g.27364527A>CCA346196662EIF2B4,GTF3C2-AS2c.1445T>G (p.Leu482Arg)
c.*711T>G (n.*711T>G)
c.1442T>G (p.Leu481Arg)
c.1505T>G (p.Leu502Arg)
n.438T>G
c.1508T>G (p.Leu503Arg)
c.1436T>G (p.Leu479Arg)
c.1400T>G (p.Leu467Arg)
c.1397T>G (p.Leu466Arg)
c.827T>G (p.Leu276Arg)
n.1772-2897A>C
c.1352T>G (p.Leu451Arg)
c.860T>G (p.Leu287Arg)
2g.27364527A>GCA346196660EIF2B4,GTF3C2-AS2c.1445T>C (p.Leu482Pro)
c.*711T>C (n.*711T>C)
c.1442T>C (p.Leu481Pro)
c.1505T>C (p.Leu502Pro)
n.438T>C
c.1508T>C (p.Leu503Pro)
c.1436T>C (p.Leu479Pro)
c.1400T>C (p.Leu467Pro)
c.1397T>C (p.Leu466Pro)
c.827T>C (p.Leu276Pro)
n.1772-2897A>G
c.1352T>C (p.Leu451Pro)
c.860T>C (p.Leu287Pro)
2g.27364527A>TCA346196661EIF2B4,GTF3C2-AS2c.1445T>A (p.Leu482Gln)
c.*711T>A (n.*711T>A)
c.1442T>A (p.Leu481Gln)
c.1505T>A (p.Leu502Gln)
n.438T>A
c.1508T>A (p.Leu503Gln)
c.1436T>A (p.Leu479Gln)
c.1400T>A (p.Leu467Gln)
c.1397T>A (p.Leu466Gln)
c.827T>A (p.Leu276Gln)
n.1772-2897A>T
c.1352T>A (p.Leu451Gln)
c.860T>A (p.Leu287Gln)
2g.27364528G>ACA425409787EIF2B4,GTF3C2-AS2c.1444C>T (p.Leu482=)
c.*710C>T (n.*710C>T)
c.1441C>T (p.Leu481=)
c.1504C>T (p.Leu502=)
n.437C>T
c.1507C>T (p.Leu503=)
c.1435C>T (p.Leu479=)
c.1399C>T (p.Leu467=)
c.1396C>T (p.Leu466=)
c.826C>T (p.Leu276=)
n.1772-2896G>A
c.1351C>T (p.Leu451=)
c.859C>T (p.Leu287=)
2g.27364528G>CCA346196663EIF2B4,GTF3C2-AS2c.1444C>G (p.Leu482Val)
c.*710C>G (n.*710C>G)
c.1441C>G (p.Leu481Val)
c.1504C>G (p.Leu502Val)
n.437C>G
c.1507C>G (p.Leu503Val)
c.1435C>G (p.Leu479Val)
c.1399C>G (p.Leu467Val)
c.1396C>G (p.Leu466Val)
c.826C>G (p.Leu276Val)
n.1772-2896G>C
c.1351C>G (p.Leu451Val)
c.859C>G (p.Leu287Val)
 gnomAD v4
2g.27364528G>TCA346196664EIF2B4,GTF3C2-AS2c.1444C>A (p.Leu482Ile)
c.*710C>A (n.*710C>A)
c.1441C>A (p.Leu481Ile)
c.1504C>A (p.Leu502Ile)
n.437C>A
c.1507C>A (p.Leu503Ile)
c.1435C>A (p.Leu479Ile)
c.1399C>A (p.Leu467Ile)
c.1396C>A (p.Leu466Ile)
c.826C>A (p.Leu276Ile)
n.1772-2896G>T
c.1351C>A (p.Leu451Ile)
c.859C>A (p.Leu287Ile)
2g.27364529G>ACA425409788EIF2B4,GTF3C2-AS2c.1443C>T (p.Ser481=)
c.*709C>T (n.*709C>T)
c.1440C>T (p.Ser480=)
c.1503C>T (p.Ser501=)
n.436C>T
c.1506C>T (p.Ser502=)
c.1434C>T (p.Ser478=)
c.1398C>T (p.Ser466=)
c.1395C>T (p.Ser465=)
c.825C>T (p.Ser275=)
n.1772-2895G>A
c.1350C>T (p.Ser450=)
c.858C>T (p.Ser286=)
2g.27364529G>CCA425409789EIF2B4,GTF3C2-AS2c.1443C>G (p.Ser481=)
c.*709C>G (n.*709C>G)
c.1440C>G (p.Ser480=)
c.1503C>G (p.Ser501=)
n.436C>G
c.1506C>G (p.Ser502=)
c.1434C>G (p.Ser478=)
c.1398C>G (p.Ser466=)
c.1395C>G (p.Ser465=)
c.825C>G (p.Ser275=)
n.1772-2895G>C
c.1350C>G (p.Ser450=)
c.858C>G (p.Ser286=)
2g.27364529G>TCA425409790EIF2B4,GTF3C2-AS2c.1443C>A (p.Ser481=)
c.*709C>A (n.*709C>A)
c.1440C>A (p.Ser480=)
c.1503C>A (p.Ser501=)
n.436C>A
c.1506C>A (p.Ser502=)
c.1434C>A (p.Ser478=)
c.1398C>A (p.Ser466=)
c.1395C>A (p.Ser465=)
c.825C>A (p.Ser275=)
n.1772-2895G>T
c.1350C>A (p.Ser450=)
c.858C>A (p.Ser286=)
2g.27364530G>ACA346196665EIF2B4,GTF3C2-AS2c.1442C>T (p.Ser481Phe)
c.*708C>T (n.*708C>T)
c.1439C>T (p.Ser480Phe)
c.1502C>T (p.Ser501Phe)
n.435C>T
c.1505C>T (p.Ser502Phe)
c.1433C>T (p.Ser478Phe)
c.1397C>T (p.Ser466Phe)
c.1394C>T (p.Ser465Phe)
c.824C>T (p.Ser275Phe)
n.1772-2894G>A
c.1349C>T (p.Ser450Phe)
c.857C>T (p.Ser286Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.27364530G>CCA1576570EIF2B4,GTF3C2-AS2c.1442C>G (p.Ser481Cys)
c.*708C>G (n.*708C>G)
c.1439C>G (p.Ser480Cys)
c.1502C>G (p.Ser501Cys)
n.435C>G
c.1505C>G (p.Ser502Cys)
c.1433C>G (p.Ser478Cys)
c.1397C>G (p.Ser466Cys)
c.1394C>G (p.Ser465Cys)
c.824C>G (p.Ser275Cys)
n.1772-2894G>C
c.1349C>G (p.Ser450Cys)
c.857C>G (p.Ser286Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27364530G=CA1240242816EIF2B4,GTF3C2-AS2c.1442C= (p.Ser481=)
c.*708C= (n.*708C=)
c.1439C= (p.Ser480=)
c.1502C= (p.Ser501=)
n.435C=
c.1505C= (p.Ser502=)
c.1433C= (p.Ser478=)
c.1397C= (p.Ser466=)
c.1394C= (p.Ser465=)
c.824C= (p.Ser275=)
n.1772-2894G=
c.1349C= (p.Ser450=)
c.857C= (p.Ser286=)
2g.27364530G>TCA346196666EIF2B4,GTF3C2-AS2c.1442C>A (p.Ser481Tyr)
c.*708C>A (n.*708C>A)
c.1439C>A (p.Ser480Tyr)
c.1502C>A (p.Ser501Tyr)
n.435C>A
c.1505C>A (p.Ser502Tyr)
c.1433C>A (p.Ser478Tyr)
c.1397C>A (p.Ser466Tyr)
c.1394C>A (p.Ser465Tyr)
c.824C>A (p.Ser275Tyr)
n.1772-2894G>T
c.1349C>A (p.Ser450Tyr)
c.857C>A (p.Ser286Tyr)
2g.27364531A>CCA346196667EIF2B4,GTF3C2-AS2c.1441T>G (p.Ser481Ala)
c.*707T>G (n.*707T>G)
c.1438T>G (p.Ser480Ala)
c.1501T>G (p.Ser501Ala)
n.434T>G
c.1504T>G (p.Ser502Ala)
c.1432T>G (p.Ser478Ala)
c.1396T>G (p.Ser466Ala)
c.1393T>G (p.Ser465Ala)
c.823T>G (p.Ser275Ala)
n.1772-2893A>C
c.1348T>G (p.Ser450Ala)
c.856T>G (p.Ser286Ala)
2g.27364531A>GCA346196668EIF2B4,GTF3C2-AS2c.1441T>C (p.Ser481Pro)
c.*707T>C (n.*707T>C)
c.1438T>C (p.Ser480Pro)
c.1501T>C (p.Ser501Pro)
n.434T>C
c.1504T>C (p.Ser502Pro)
c.1432T>C (p.Ser478Pro)
c.1396T>C (p.Ser466Pro)
c.1393T>C (p.Ser465Pro)
c.823T>C (p.Ser275Pro)
n.1772-2893A>G
c.1348T>C (p.Ser450Pro)
c.856T>C (p.Ser286Pro)
 gnomAD v4
2g.27364531A>TCA346196669EIF2B4,GTF3C2-AS2c.1441T>A (p.Ser481Thr)
c.*707T>A (n.*707T>A)
c.1438T>A (p.Ser480Thr)
c.1501T>A (p.Ser501Thr)
n.434T>A
c.1504T>A (p.Ser502Thr)
c.1432T>A (p.Ser478Thr)
c.1396T>A (p.Ser466Thr)
c.1393T>A (p.Ser465Thr)
c.823T>A (p.Ser275Thr)
n.1772-2893A>T
c.1348T>A (p.Ser450Thr)
c.856T>A (p.Ser286Thr)
 COSMIC
2g.27364532T>ACA425409791EIF2B4,GTF3C2-AS2c.1440A>T (p.Ala480=)
c.*706A>T (n.*706A>T)
c.1437A>T (p.Ala479=)
c.1500A>T (p.Ala500=)
n.433A>T
c.1503A>T (p.Ala501=)
c.1431A>T (p.Ala477=)
c.1395A>T (p.Ala465=)
c.1392A>T (p.Ala464=)
c.822A>T (p.Ala274=)
n.1772-2892T>A
c.1347A>T (p.Ala449=)
c.855A>T (p.Ala285=)
2g.27364532T>CCA425409792EIF2B4,GTF3C2-AS2c.1440A>G (p.Ala480=)
c.*706A>G (n.*706A>G)
c.1437A>G (p.Ala479=)
c.1500A>G (p.Ala500=)
n.433A>G
c.1503A>G (p.Ala501=)
c.1431A>G (p.Ala477=)
c.1395A>G (p.Ala465=)
c.1392A>G (p.Ala464=)
c.822A>G (p.Ala274=)
n.1772-2892T>C
c.1347A>G (p.Ala449=)
c.855A>G (p.Ala285=)
 ClinVar gnomAD v4
2g.27364532T>GCA425409793EIF2B4,GTF3C2-AS2c.1440A>C (p.Ala480=)
c.*706A>C (n.*706A>C)
c.1437A>C (p.Ala479=)
c.1500A>C (p.Ala500=)
n.433A>C
c.1503A>C (p.Ala501=)
c.1431A>C (p.Ala477=)
c.1395A>C (p.Ala465=)
c.1392A>C (p.Ala464=)
c.822A>C (p.Ala274=)
n.1772-2892T>G
c.1347A>C (p.Ala449=)
c.855A>C (p.Ala285=)
2g.27364533G>ACA44509227EIF2B4,GTF3C2-AS2c.1439C>T (p.Ala480Val)
c.*705C>T (n.*705C>T)
c.1436C>T (p.Ala479Val)
c.1499C>T (p.Ala500Val)
n.432C>T
c.1502C>T (p.Ala501Val)
c.1430C>T (p.Ala477Val)
c.1394C>T (p.Ala465Val)
c.1391C>T (p.Ala464Val)
c.821C>T (p.Ala274Val)
n.1772-2891G>A
c.1346C>T (p.Ala449Val)
c.854C>T (p.Ala285Val)
 dbSNP gnomAD v4
2g.27364533G>CCA44509233EIF2B4,GTF3C2-AS2c.1439C>G (p.Ala480Gly)
c.*705C>G (n.*705C>G)
c.1436C>G (p.Ala479Gly)
c.1499C>G (p.Ala500Gly)
n.432C>G
c.1502C>G (p.Ala501Gly)
c.1430C>G (p.Ala477Gly)
c.1394C>G (p.Ala465Gly)
c.1391C>G (p.Ala464Gly)
c.821C>G (p.Ala274Gly)
n.1772-2891G>C
c.1346C>G (p.Ala449Gly)
c.854C>G (p.Ala285Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27364533G=CA1240242817EIF2B4,GTF3C2-AS2c.1439C= (p.Ala480=)
c.*705C= (n.*705C=)
c.1436C= (p.Ala479=)
c.1499C= (p.Ala500=)
n.432C=
c.1502C= (p.Ala501=)
c.1430C= (p.Ala477=)
c.1394C= (p.Ala465=)
c.1391C= (p.Ala464=)
c.821C= (p.Ala274=)
n.1772-2891G=
c.1346C= (p.Ala449=)
c.854C= (p.Ala285=)
2g.27364533G>TCA346196670EIF2B4,GTF3C2-AS2c.1439C>A (p.Ala480Glu)
c.*705C>A (n.*705C>A)
c.1436C>A (p.Ala479Glu)
c.1499C>A (p.Ala500Glu)
n.432C>A
c.1502C>A (p.Ala501Glu)
c.1430C>A (p.Ala477Glu)
c.1394C>A (p.Ala465Glu)
c.1391C>A (p.Ala464Glu)
c.821C>A (p.Ala274Glu)
n.1772-2891G>T
c.1346C>A (p.Ala449Glu)
c.854C>A (p.Ala285Glu)
 dbSNP gnomAD v4
2g.27364534C>ACA346196672EIF2B4,GTF3C2-AS2c.1438G>T (p.Ala480Ser)
c.*704G>T (n.*704G>T)
c.1435G>T (p.Ala479Ser)
c.1498G>T (p.Ala500Ser)
n.431G>T
c.1501G>T (p.Ala501Ser)
c.1429G>T (p.Ala477Ser)
c.1393G>T (p.Ala465Ser)
c.1390G>T (p.Ala464Ser)
c.820G>T (p.Ala274Ser)
n.1772-2890C>A
c.1345G>T (p.Ala449Ser)
c.853G>T (p.Ala285Ser)
2g.27364534C=CA1240242818EIF2B4,GTF3C2-AS2c.1438G= (p.Ala480=)
c.*704G= (n.*704G=)
c.1435G= (p.Ala479=)
c.1498G= (p.Ala500=)
n.431G=
c.1501G= (p.Ala501=)
c.1429G= (p.Ala477=)
c.1393G= (p.Ala465=)
c.1390G= (p.Ala464=)
c.820G= (p.Ala274=)
n.1772-2890C=
c.1345G= (p.Ala449=)
c.853G= (p.Ala285=)
2g.27364534C>GCA346196671EIF2B4,GTF3C2-AS2c.1438G>C (p.Ala480Pro)
c.*704G>C (n.*704G>C)
c.1435G>C (p.Ala479Pro)
c.1498G>C (p.Ala500Pro)
n.431G>C
c.1501G>C (p.Ala501Pro)
c.1429G>C (p.Ala477Pro)
c.1393G>C (p.Ala465Pro)
c.1390G>C (p.Ala464Pro)
c.820G>C (p.Ala274Pro)
n.1772-2890C>G
c.1345G>C (p.Ala449Pro)
c.853G>C (p.Ala285Pro)
2g.27364534C>TCA1576571EIF2B4,GTF3C2-AS2c.1438G>A (p.Ala480Thr)
c.*704G>A (n.*704G>A)
c.1435G>A (p.Ala479Thr)
c.1498G>A (p.Ala500Thr)
n.431G>A
c.1501G>A (p.Ala501Thr)
c.1429G>A (p.Ala477Thr)
c.1393G>A (p.Ala465Thr)
c.1390G>A (p.Ala464Thr)
c.820G>A (p.Ala274Thr)
n.1772-2890C>T
c.1345G>A (p.Ala449Thr)
c.853G>A (p.Ala285Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27364535G>ACA425409794EIF2B4,GTF3C2-AS2c.1437C>T (p.His479=)
c.*703C>T (n.*703C>T)
c.1434C>T (p.His478=)
c.1497C>T (p.His499=)
n.430C>T
c.1500C>T (p.His500=)
c.1428C>T (p.His476=)
c.1392C>T (p.His464=)
c.1389C>T (p.His463=)
c.819C>T (p.His273=)
n.1772-2889G>A
c.1344C>T (p.His448=)
c.852C>T (p.His284=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.27364535G>CCA346196673EIF2B4,GTF3C2-AS2c.1437C>G (p.His479Gln)
c.*703C>G (n.*703C>G)
c.1434C>G (p.His478Gln)
c.1497C>G (p.His499Gln)
n.430C>G
c.1500C>G (p.His500Gln)
c.1428C>G (p.His476Gln)
c.1392C>G (p.His464Gln)
c.1389C>G (p.His463Gln)
c.819C>G (p.His273Gln)
n.1772-2889G>C
c.1344C>G (p.His448Gln)
c.852C>G (p.His284Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.27364535G=CA1240242819EIF2B4,GTF3C2-AS2c.1437C= (p.His479=)
c.*703C= (n.*703C=)
c.1434C= (p.His478=)
c.1497C= (p.His499=)
n.430C=
c.1500C= (p.His500=)
c.1428C= (p.His476=)
c.1392C= (p.His464=)
c.1389C= (p.His463=)
c.819C= (p.His273=)
n.1772-2889G=
c.1344C= (p.His448=)
c.852C= (p.His284=)
2g.27364535G>TCA346196674EIF2B4,GTF3C2-AS2c.1437C>A (p.His479Gln)
c.*703C>A (n.*703C>A)
c.1434C>A (p.His478Gln)
c.1497C>A (p.His499Gln)
n.430C>A
c.1500C>A (p.His500Gln)
c.1428C>A (p.His476Gln)
c.1392C>A (p.His464Gln)
c.1389C>A (p.His463Gln)
c.819C>A (p.His273Gln)
n.1772-2889G>T
c.1344C>A (p.His448Gln)
c.852C>A (p.His284Gln)
2g.27364536T>ACA346196675EIF2B4,GTF3C2-AS2c.1436A>T (p.His479Leu)
c.*702A>T (n.*702A>T)
c.1433A>T (p.His478Leu)
c.1496A>T (p.His499Leu)
n.429A>T
c.1499A>T (p.His500Leu)
c.1427A>T (p.His476Leu)
c.1391A>T (p.His464Leu)
c.1388A>T (p.His463Leu)
c.818A>T (p.His273Leu)
n.1772-2888T>A
c.1343A>T (p.His448Leu)
c.851A>T (p.His284Leu)
2g.27364536T>CCA346196676EIF2B4,GTF3C2-AS2c.1436A>G (p.His479Arg)
c.*702A>G (n.*702A>G)
c.1433A>G (p.His478Arg)
c.1496A>G (p.His499Arg)
n.429A>G
c.1499A>G (p.His500Arg)
c.1427A>G (p.His476Arg)
c.1391A>G (p.His464Arg)
c.1388A>G (p.His463Arg)
c.818A>G (p.His273Arg)
n.1772-2888T>C
c.1343A>G (p.His448Arg)
c.851A>G (p.His284Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.27364536T>GCA346196677EIF2B4,GTF3C2-AS2c.1436A>C (p.His479Pro)
c.*702A>C (n.*702A>C)
c.1433A>C (p.His478Pro)
c.1496A>C (p.His499Pro)
n.429A>C
c.1499A>C (p.His500Pro)
c.1427A>C (p.His476Pro)
c.1391A>C (p.His464Pro)
c.1388A>C (p.His463Pro)
c.818A>C (p.His273Pro)
n.1772-2888T>G
c.1343A>C (p.His448Pro)
c.851A>C (p.His284Pro)
2g.27364536T=CA1240242820EIF2B4,GTF3C2-AS2c.1436A= (p.His479=)
c.*702A= (n.*702A=)
c.1433A= (p.His478=)
c.1496A= (p.His499=)
n.429A=
c.1499A= (p.His500=)
c.1427A= (p.His476=)
c.1391A= (p.His464=)
c.1388A= (p.His463=)
c.818A= (p.His273=)
n.1772-2888T=
c.1343A= (p.His448=)
c.851A= (p.His284=)
2g.27364537G>ACA346196678EIF2B4,GTF3C2-AS2c.1435C>T (p.His479Tyr)
c.*701C>T (n.*701C>T)
c.1432C>T (p.His478Tyr)
c.1495C>T (p.His499Tyr)
n.428C>T
c.1498C>T (p.His500Tyr)
c.1426C>T (p.His476Tyr)
c.1390C>T (p.His464Tyr)
c.1387C>T (p.His463Tyr)
c.817C>T (p.His273Tyr)
n.1772-2887G>A
c.1342C>T (p.His448Tyr)
c.850C>T (p.His284Tyr)
2g.27364537G>CCA346196679EIF2B4,GTF3C2-AS2c.1435C>G (p.His479Asp)
c.*701C>G (n.*701C>G)
c.1432C>G (p.His478Asp)
c.1495C>G (p.His499Asp)
n.428C>G
c.1498C>G (p.His500Asp)
c.1426C>G (p.His476Asp)
c.1390C>G (p.His464Asp)
c.1387C>G (p.His463Asp)
c.817C>G (p.His273Asp)
n.1772-2887G>C
c.1342C>G (p.His448Asp)
c.850C>G (p.His284Asp)
2g.27364537G>TCA346196680EIF2B4,GTF3C2-AS2c.1435C>A (p.His479Asn)
c.*701C>A (n.*701C>A)
c.1432C>A (p.His478Asn)
c.1495C>A (p.His499Asn)
n.428C>A
c.1498C>A (p.His500Asn)
c.1426C>A (p.His476Asn)
c.1390C>A (p.His464Asn)
c.1387C>A (p.His463Asn)
c.817C>A (p.His273Asn)
n.1772-2887G>T
c.1342C>A (p.His448Asn)
c.850C>A (p.His284Asn)
2g.27364538G>ACA425409795EIF2B4,GTF3C2-AS2c.1434C>T (p.Asn478=)
c.*700C>T (n.*700C>T)
c.1431C>T (p.Asn477=)
c.1494C>T (p.Asn498=)
n.427C>T
c.1497C>T (p.Asn499=)
c.1425C>T (p.Asn475=)
c.1389C>T (p.Asn463=)
c.1386C>T (p.Asn462=)
c.816C>T (p.Asn272=)
n.1772-2886G>A
c.1341C>T (p.Asn447=)
c.849C>T (p.Asn283=)
 COSMIC COSMIC
2g.27364538G>CCA346196681EIF2B4,GTF3C2-AS2c.1434C>G (p.Asn478Lys)
c.*700C>G (n.*700C>G)
c.1431C>G (p.Asn477Lys)
c.1494C>G (p.Asn498Lys)
n.427C>G
c.1497C>G (p.Asn499Lys)
c.1425C>G (p.Asn475Lys)
c.1389C>G (p.Asn463Lys)
c.1386C>G (p.Asn462Lys)
c.816C>G (p.Asn272Lys)
n.1772-2886G>C
c.1341C>G (p.Asn447Lys)
c.849C>G (p.Asn283Lys)
2g.27364538G>TCA346196682EIF2B4,GTF3C2-AS2c.1434C>A (p.Asn478Lys)
c.*700C>A (n.*700C>A)
c.1431C>A (p.Asn477Lys)
c.1494C>A (p.Asn498Lys)
n.427C>A
c.1497C>A (p.Asn499Lys)
c.1425C>A (p.Asn475Lys)
c.1389C>A (p.Asn463Lys)
c.1386C>A (p.Asn462Lys)
c.816C>A (p.Asn272Lys)
n.1772-2886G>T
c.1341C>A (p.Asn447Lys)
c.849C>A (p.Asn283Lys)
2g.27364539T>ACA346196683EIF2B4,GTF3C2-AS2c.1433A>T (p.Asn478Ile)
c.*699A>T (n.*699A>T)
c.1430A>T (p.Asn477Ile)
c.1493A>T (p.Asn498Ile)
n.426A>T
c.1496A>T (p.Asn499Ile)
c.1424A>T (p.Asn475Ile)
c.1388A>T (p.Asn463Ile)
c.1385A>T (p.Asn462Ile)
c.815A>T (p.Asn272Ile)
n.1772-2885T>A
c.1340A>T (p.Asn447Ile)
c.848A>T (p.Asn283Ile)
2g.27364539T>CCA346196684EIF2B4,GTF3C2-AS2c.1433A>G (p.Asn478Ser)
c.*699A>G (n.*699A>G)
c.1430A>G (p.Asn477Ser)
c.1493A>G (p.Asn498Ser)
n.426A>G
c.1496A>G (p.Asn499Ser)
c.1424A>G (p.Asn475Ser)
c.1388A>G (p.Asn463Ser)
c.1385A>G (p.Asn462Ser)
c.815A>G (p.Asn272Ser)
n.1772-2885T>C
c.1340A>G (p.Asn447Ser)
c.848A>G (p.Asn283Ser)
 gnomAD v4

Number of alleles fetched