| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219421482A>C | CA217025 | DES | n.640A>C n.554A>C c.1166A>C (p.Gln389Pro) n.638A>C n.561A>C c.1163A>C (p.Gln388Pro) c.736-2A>C (n.736-2A>C) c.1097A>C (p.Gln366Pro) c.1145A>C (p.Gln382Pro) c.896A>C (p.Gln299Pro) | ClinVar dbSNP |
| 2 | g.219421482A= | CA1329211314 | DES | n.640A= n.554A= c.1166A= (p.Gln389=) n.638A= n.561A= c.1163A= (p.Gln388=) c.736-2A= (n.736-2A=) c.1097A= (p.Gln366=) c.1145A= (p.Gln382=) c.896A= (p.Gln299=) | dbSNP |
| 2 | g.219421482A>G | CA350694726 | DES | n.640A>G n.554A>G c.1166A>G (p.Gln389Arg) n.638A>G n.561A>G c.1163A>G (p.Gln388Arg) c.736-2A>G (n.736-2A>G) c.1097A>G (p.Gln366Arg) c.1145A>G (p.Gln382Arg) c.896A>G (p.Gln299Arg) | ClinVar dbSNP gnomAD v4 |