| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.148483196G>T | CA1900198 | MBD5 | c.1041G>T c.2605G>T (p.Val869Phe) c.1824G>T n.3834G>T n.2917G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.148483196G>A | CA285751 | MBD5 | c.1041G>A c.2605G>A (p.Val869Ile) c.1824G>A n.3834G>A n.2917G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |