| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.20383067T>G | CA5920253 | HTATIP2 | c.591T>G (p.Ser197Arg) c.693T>G (p.Ser231Arg) c.453T>G (p.Ser151Arg) n.851T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.20383067T= | CA1956502783 | HTATIP2 | c.591T= (p.Ser197=) c.693T= (p.Ser231=) c.453T= (p.Ser151=) n.851T= | dbSNP dbSNP |