| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.12661276C>A | CA9226641 | MAN2B1 | c.1010G>T (p.Arg337Leu) n.203G>T n.992G>T c.-9G>T (n.-9G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.12661276C>T | CA146743 | MAN2B1 | c.1010G>A (p.Arg337Gln) n.203G>A n.992G>A c.-9G>A (n.-9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |