| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.43577066C>T | CA2340947 | ANO10 | c.788G>A (p.Arg263His) c.593-2202G>A (n.593-2202G>A) c.590G>A (p.Arg197His) c.473-11339G>A (n.473-11339G>A) c.455G>A (p.Arg152His) n.904G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.43577066C= | CA1360853193 | ANO10 | c.788G= (p.Arg263=) c.593-2202G= (n.593-2202G=) c.590G= (p.Arg197=) c.473-11339G= (n.473-11339G=) c.455G= (p.Arg152=) n.904G= | dbSNP |