| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.18146035G>A | CA8424588 | MYO15A | c.6437G>A (p.Arg2146Gln) n.22G>A c.6377G>A (p.Arg2126Gln) c.6342+35G>A (n.6342+35G>A) c.6431G>A (p.Arg2144Gln) n.7036G>A c.6440G>A (p.Arg2147Gln) c.6213+1443G>A (n.6213+1443G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.18146035G= | CA2250850359 | MYO15A | c.6437G= (p.Arg2146=) n.22G= c.6377G= (p.Arg2126=) c.6342+35G= (n.6342+35G=) c.6431G= (p.Arg2144=) n.7036G= c.6440G= (p.Arg2147=) c.6213+1443G= (n.6213+1443G=) | dbSNP |