| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7580370C>T | CA004405 | DSP | c.4050+130C>T (n.4050+130C>T) c.4180C>T (p.Gln1394Ter) c.3582+598C>T (n.3582+598C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7580370C= | CA1608616623 | DSP | c.4050+130C= (n.4050+130C=) c.4180C= (p.Gln1394=) c.3582+598C= (n.3582+598C=) | dbSNP |