| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.28105426C>T | CA10167373 | TTC28 | c.3160G>A (p.Glu1054Lys) c.2779G>A (p.Glu927Lys) c.2806G>A (p.Glu936Lys) c.3082G>A (p.Glu1028Lys) c.3070G>A (p.Glu1024Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.28105426C= | CA2399977644 | TTC28 | c.3160G= (p.Glu1054=) c.2779G= (p.Glu927=) c.2806G= (p.Glu936=) c.3082G= (p.Glu1028=) c.3070G= (p.Glu1024=) | dbSNP |