| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.10413360C>A | CA408233719 | MKKS | c.155G>T (p.Gly52Val) n.458+436G>T n.364-4557G>T n.347-4557G>T | dbSNP |
| 20 | g.10413360C>T | CA253459 | MKKS | c.155G>A (p.Gly52Asp) n.458+436G>A n.364-4557G>A n.347-4557G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.10413360C= | CA2349781088 | MKKS | c.155G= (p.Gly52=) n.458+436G= n.364-4557G= n.347-4557G= | dbSNP |