| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31475994A>G | CA8928279 | DSG3 | c.2734A>G (p.Thr912Ala) c.2731A>G (p.Thr911Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31475994A>T | CA402125215 | DSG3 | c.2734A>T (p.Thr912Ser) c.2731A>T (p.Thr911Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31475994A= | CA2293835369 | DSG3 | c.2734A= (p.Thr912=) c.2731A= (p.Thr911=) | dbSNP dbSNP |