| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.18122113G>A | CA398587395 | MYO15A | c.3313G>A (p.Glu1105Lys) n.2946G>A n.3972G>A n.4011G>A | dbSNP |
| 17 | g.18122113G>T | CA254020 | MYO15A | c.3313G>T (p.Glu1105Ter) n.2946G>T n.3972G>T n.4011G>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.18122113G= | CA2250780782 | MYO15A | c.3313G= (p.Glu1105=) n.2946G= n.3972G= n.4011G= | dbSNP |