| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2166689del | CA16041463 | TH | c.921del (p.Phe308SerfsTer?) c.*610del (n.*610del) c.696-140del (n.696-140del) c.*641del (n.*641del) c.1002del (p.Phe335SerfsTer?) c.1014del (p.Phe339SerfsTer?) c.136-140del c.215del n.86del n.470del c.933del (p.Phe312SerfsTer?) | ClinVar dbSNP |
| 11 | g.2166689C= | CA3183114501 | TH | c.921G= (p.Val307=) c.*610G= (n.*610G=) c.696-140G= (n.696-140G=) c.*641G= (n.*641G=) c.1002G= (p.Val334=) c.1014G= (p.Val338=) c.136-140G= c.215G= n.86G= n.470G= c.933G= (p.Val311=) | dbSNP |