| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7583758C>A | CA047843 | DSP | c.5167C>A (p.Arg1723=) c.6496C>A (p.Arg2166=) c.4699C>A (p.Arg1567=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583758C>T | CA006958 | DSP | c.5167C>T (p.Arg1723Ter) c.6496C>T (p.Arg2166Ter) c.4699C>T (p.Arg1567Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |