| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.113399438A>C | CA6280950 | ANKK1 | c.1469A>C (p.His490Pro) c.1502A>C (p.His501Pro) c.1472A>C (p.His491Pro) c.1280A>C (p.His427Pro) c.1499A>C (p.His500Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.113399438A>G | CA6280949 | ANKK1 | c.1469A>G (p.His490Arg) c.1502A>G (p.His501Arg) c.1472A>G (p.His491Arg) c.1280A>G (p.His427Arg) c.1499A>G (p.His500Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |