| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.57041441C>A | CA254322 | MYO1A | c.1155G>T (p.Glu385Asp) c.669G>T (p.Glu223Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.57041441C>T | CA480234389 | MYO1A | c.1155G>A (p.Glu385=) c.669G>A (p.Glu223=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.57041441C= | CA2038690724 | MYO1A | c.1155G= (p.Glu385=) c.669G= (p.Glu223=) | dbSNP |