| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219421533G>T | CA350695018 | DES | n.691G>T n.605G>T c.1217G>T (p.Arg406Leu) n.689G>T n.612G>T c.1214G>T (p.Arg405Leu) c.785G>T (p.Arg262Leu) c.1148G>T (p.Arg383Leu) c.1196G>T (p.Arg399Leu) c.947G>T (p.Arg316Leu) | ClinVar dbSNP |
| 2 | g.219421533G>A | CA16604146 | DES | n.691G>A n.605G>A c.1217G>A (p.Arg406Gln) n.689G>A n.612G>A c.1214G>A (p.Arg405Gln) c.785G>A (p.Arg262Gln) c.1148G>A (p.Arg383Gln) c.1196G>A (p.Arg399Gln) c.947G>A (p.Arg316Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.219421533G= | CA1329211341 | DES | n.691G= n.605G= c.1217G= (p.Arg406=) n.689G= n.612G= c.1214G= (p.Arg405=) c.785G= (p.Arg262=) c.1148G= (p.Arg383=) c.1196G= (p.Arg399=) c.947G= (p.Arg316=) | dbSNP |
| 2 | g.219421533G>C | CA350695020 | DES | n.691G>C n.605G>C c.1217G>C (p.Arg406Pro) n.689G>C n.612G>C c.1214G>C (p.Arg405Pro) c.785G>C (p.Arg262Pro) c.1148G>C (p.Arg383Pro) c.1196G>C (p.Arg399Pro) c.947G>C (p.Arg316Pro) | ClinVar dbSNP |