| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31524526C>T | CA022251 | DSG2 | n.600C>T c.600C>T c.769C>T (p.Gln257Ter) c.235C>T (p.Gln79Ter) | ClinVar dbSNP |
| 18 | g.31524526C>G | CA402135106 | DSG2 | n.600C>G c.600C>G c.769C>G (p.Gln257Glu) c.235C>G (p.Gln79Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31524526C= | CA2293857015 | DSG2 | n.600C= c.600C= c.769C= (p.Gln257=) c.235C= (p.Gln79=) | dbSNP |