| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.134898383G>A | CA1882890 | ACMSD,CCNT2-AS1 | c.892G>A (p.Glu298Lys) c.718G>A (p.Glu240Lys) n.44+20180C>T c.745G>A (p.Glu249Lys) c.706G>A (p.Glu236Lys) c.685G>A (p.Glu229Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.134898383G= | CA1290420830 | ACMSD,CCNT2-AS1 | c.892G= (p.Glu298=) c.718G= (p.Glu240=) n.44+20180C= c.745G= (p.Glu249=) c.706G= (p.Glu236=) c.685G= (p.Glu229=) | dbSNP |