| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.59136459C>G | CA14082414 | MYO1E | c.*921G>C (n.*921G>C) c.448G>C (n.448G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.59136459C>T | CA2180730650 | MYO1E | c.*921G>A (n.*921G>A) c.448G>A (n.448G>A) | dbSNP gnomAD v4 |
| 15 | g.59136459C>A | CA2180730649 | MYO1E | c.*921G>T (n.*921G>T) c.448G>T (n.448G>T) | dbSNP gnomAD v4 |