| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.25763322G>A | CA10159499 | MYO18B | c.131G>A (p.Gly44Glu) c.-353G>A (n.-353G>A) c.-2263G>A (n.-2263G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.25763322G>C | CA410999935 | MYO18B | c.131G>C (p.Gly44Ala) c.-353G>C (n.-353G>C) c.-2263G>C (n.-2263G>C) | dbSNP |