| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.43252858A>G | CA170978 | TGM5 | c.763T>C (p.Trp255Arg) n.232T>C c.517T>C (p.Trp173Arg) c.760T>C (p.Trp254Arg) c.514T>C (p.Trp172Arg) c.766T>C (p.Trp256Arg) n.937T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43252858A= | CA2173102652 | TGM5 | c.763T= (p.Trp255=) n.232T= c.517T= (p.Trp173=) c.760T= (p.Trp254=) c.514T= (p.Trp172=) c.766T= (p.Trp256=) n.937T= | dbSNP |