| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.10412723A>T | CA253461 | MKKS | c.792T>A (p.Tyr264Ter) n.459-23T>A n.364-3920T>A n.347-3920T>A | ClinVar dbSNP |
| 20 | g.10412723A>C | CA408232344 | MKKS | c.792T>G (p.Tyr264Ter) n.459-23T>G n.364-3920T>G n.347-3920T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.10412723A>G | CA9763624 | MKKS | c.792T>C (p.Tyr264=) n.459-23T>C n.364-3920T>C n.347-3920T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |