| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219421553G>T | CA350695103 | DES | n.711G>T n.625G>T c.1237G>T (p.Glu413Ter) n.709G>T n.632G>T c.1234G>T (p.Glu412Ter) c.805G>T (p.Glu269Ter) c.1168G>T (p.Glu390Ter) c.1216G>T (p.Glu406Ter) c.967G>T (p.Glu323Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.219421553G>A | CA284673 | DES | n.711G>A n.625G>A c.1237G>A (p.Glu413Lys) n.709G>A n.632G>A c.1234G>A (p.Glu412Lys) c.805G>A (p.Glu269Lys) c.1168G>A (p.Glu390Lys) c.1216G>A (p.Glu406Lys) c.967G>A (p.Glu323Lys) | ClinVar dbSNP |
| 2 | g.219421553G= | CA1329211352 | DES | n.711G= n.625G= c.1237G= (p.Glu413=) n.709G= n.632G= c.1234G= (p.Glu412=) c.805G= (p.Glu269=) c.1168G= (p.Glu390=) c.1216G= (p.Glu406=) c.967G= (p.Glu323=) | dbSNP |