| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7584202G>T | CA16042653 | DSP | c.5611G>T (p.Glu1871Ter) c.6940G>T (p.Glu2314Ter) c.5143G>T (p.Glu1715Ter) | ClinVar dbSNP |
| 6 | g.7584202G= | CA1608610448 | DSP | c.5611G= (p.Glu1871=) c.6940G= (p.Glu2314=) c.5143G= (p.Glu1715=) | dbSNP |