| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.24259152A>G | CA16042852 | TGM1 | c.1082T>C (p.Ile361Thr) c.-28-764T>C (n.-28-764T>C) c.155T>C (p.Ile52Thr) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24259152A= | CA2123854585 | TGM1 | c.1082T= (p.Ile361=) c.-28-764T= (n.-28-764T=) c.155T= (p.Ile52=) | dbSNP |