Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.1775067del | CA130894 | SERPINF1 | c.653del (p.Val218GlufsTer22) c.92del (p.Val31GlufsTer22) c.47del (p.Val16GlufsTer22) | ClinVar dbSNP |
17 | g.1775067T= | CA3223305019 | SERPINF1 | c.653T= (p.Val218=) c.92T= (p.Val31=) c.47T= (p.Val16=) | dbSNP |