| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88427489C>T | CA16607117 | ZNF469 | c.19C>T (p.Arg7Ter) n.250+2475G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88427489C>A | CA497342948 | ZNF469 | c.19C>A (p.Arg7=) n.250+2475G>T | dbSNP gnomAD v4 |
| 16 | g.88427489C>G | CA397057275 | ZNF469 | c.19C>G (p.Arg7Gly) n.250+2475G>C | dbSNP gnomAD v4 |
| 16 | g.88427489C= | CA2241070021 | ZNF469 | c.19C= (p.Arg7=) n.250+2475G= | dbSNP |