| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.10413405T>A | CA408233813 | MKKS | c.110A>T (p.Tyr37Phe) n.458+391A>T n.364-4602A>T n.347-4602A>T | dbSNP |
| 20 | g.10413405T>C | CA170910 | MKKS | c.110A>G (p.Tyr37Cys) n.458+391A>G n.364-4602A>G n.347-4602A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10413405T= | CA2349781114 | MKKS | c.110A= (p.Tyr37=) n.458+391A= n.364-4602A= n.347-4602A= | dbSNP |