| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.77618504G>C | CA367806856 | PTPN12 | c.964G>C (p.Val322Leu) c.607G>C (p.Val203Leu) c.574G>C (p.Val192Leu) c.619G>C (p.Val207Leu) c.868G>C (p.Val290Leu) c.325G>C (p.Val109Leu) n.1321G>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.77618504G>A | CA4311683 | PTPN12 | c.964G>A (p.Val322Ile) c.607G>A (p.Val203Ile) c.574G>A (p.Val192Ile) c.619G>A (p.Val207Ile) c.868G>A (p.Val290Ile) c.325G>A (p.Val109Ile) n.1321G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |