| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.113399652C>A | CA228615570 | ANKK1 | c.1683C>A (p.Tyr561Ter) c.1716C>A (p.Tyr572Ter) c.1686C>A (p.Tyr562Ter) c.1494C>A (p.Tyr498Ter) c.1713C>A (p.Tyr571Ter) | dbSNP gnomAD v4 |
| 11 | g.113399652C>T | CA6280988 | ANKK1 | c.1683C>T (p.Tyr561=) c.1716C>T (p.Tyr572=) c.1686C>T (p.Tyr562=) c.1494C>T (p.Tyr498=) c.1713C>T (p.Tyr571=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |