| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.53673804G>A | CA144864 | CACNA1D | c.1220+678G>A (n.1220+678G>A) c.1208G>A (p.Gly403Asp) n.66+678G>A c.448G>A c.1280G>A (p.Gly427Asp) c.1181G>A (p.Gly394Asp) n.250G>A c.265G>A c.239+678G>A (n.239+678G>A) c.1331+678G>A (n.1331+678G>A) c.1319G>A (p.Gly440Asp) c.782G>A (p.Gly261Asp) c.407G>A (p.Gly136Asp) | ClinVar dbSNP |
| 3 | g.53673804G= | CA1365426440 | CACNA1D | c.1220+678G= (n.1220+678G=) c.1208G= (p.Gly403=) n.66+678G= c.448G= c.1280G= (p.Gly427=) c.1181G= (p.Gly394=) n.250G= c.265G= c.239+678G= (n.239+678G=) c.1331+678G= (n.1331+678G=) c.1319G= (p.Gly440=) c.782G= (p.Gly261=) c.407G= (p.Gly136=) | dbSNP |