| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.55232605del | CA16620713 | TCF4 | c.1553del (p.Glu518GlyfsTer17) c.1529+1812del (n.1529+1812del) n.1233del c.1481del (p.Glu494GlyfsTer17) c.*1261del (n.*1261del) c.1163del (p.Glu388GlyfsTer17) c.*1443del (n.*1443del) c.905del (p.Glu302GlyfsTer17) n.1620del n.1247del c.1151del c.1580del (p.Glu527GlyfsTer17) c.*1164del (n.*1164del) c.1859del (p.Glu620GlyfsTer17) c.1073del (p.Glu358GlyfsTer17) c.1427del (p.Glu476GlyfsTer17) c.1340del (p.Glu447GlyfsTer17) n.1644del c.1571del (p.Glu524GlyfsTer17) c.1301del (p.Glu434GlyfsTer17) c.1373del (p.Glu458GlyfsTer17) c.1544del (p.Glu515GlyfsTer17) c.1478del (p.Glu493GlyfsTer17) n.588del c.1550del (p.Glu517GlyfsTer17) c.1343del (p.Glu448GlyfsTer17) c.1070del (p.Glu357GlyfsTer17) c.1856del (p.Glu619GlyfsTer17) c.1547del (p.Glu516GlyfsTer17) c.1475del (p.Glu492GlyfsTer17) c.1424del (p.Glu475GlyfsTer17) c.1337del (p.Glu446GlyfsTer17) c.1160del (p.Glu387GlyfsTer17) c.1316del (p.Glu439GlyfsTer17) c.1484del (p.Glu495GlyfsTer17) | ClinVar dbSNP |
| 18 | g.55232605T= | CA2305006440 | TCF4 | c.1553A= (p.Glu518=) c.1529+1812A= (n.1529+1812A=) n.1233A= c.1481A= (p.Glu494=) c.*1261A= (n.*1261A=) c.1163A= (p.Glu388=) c.*1443A= (n.*1443A=) c.905A= (p.Glu302=) n.1620A= n.1247A= c.1151A= c.1580A= (p.Glu527=) c.*1164A= (n.*1164A=) c.1859A= (p.Glu620=) c.1073A= (p.Glu358=) c.1427A= (p.Glu476=) c.1340A= (p.Glu447=) n.1644A= c.1571A= (p.Glu524=) c.1301A= (p.Glu434=) c.1373A= (p.Glu458=) c.1544A= (p.Glu515=) c.1478A= (p.Glu493=) n.588A= c.1550A= (p.Glu517=) c.1343A= (p.Glu448=) c.1070A= (p.Glu357=) c.1856A= (p.Glu619=) c.1547A= (p.Glu516=) c.1475A= (p.Glu492=) c.1424A= (p.Glu475=) c.1337A= (p.Glu446=) c.1160A= (p.Glu387=) c.1316A= (p.Glu439=) c.1484A= (p.Glu495=) | dbSNP dbSNP |