| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80113238del | CA16620648 | GAA | c.2061del (p.Phe687LeufsTer9) c.*199del (n.*199del) n.501del c.480del | ClinVar dbSNP |
| 17 | g.80113238C= | CA3223488402 | GAA | c.2061C= (p.Phe687=) c.*199C= (n.*199C=) n.501C= c.480C= | dbSNP |