| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31091029del | CA16620674 | DSC2 | c.44del (p.Gln15ArgfsTer16) c.473del (p.Gln158ArgfsTer16) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31091029T= | CA3229117698 | DSC2 | c.44A= (p.Gln15=) c.473A= (p.Gln158=) | dbSNP |