| 18 | g.31068145T>C | CA022921 | DSC2 | c.2147A>G (p.Tyr716Cys)
c.*78A>G (n.*78A>G)
c.2576A>G (p.Tyr859Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31068145T>A | CA402110582 | DSC2 | c.2147A>T (p.Tyr716Phe)
c.*78A>T (n.*78A>T)
c.2576A>T (p.Tyr859Phe)
| dbSNP |
