| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.18143580G>A | CA275492 | MYO15A | c.5925G>A (p.Trp1975Ter) c.5905-135G>A (n.5905-135G>A) c.*32G>A (n.*32G>A) c.5919G>A (p.Trp1973Ter) n.6564-135G>A n.6817G>A c.5928G>A (p.Trp1976Ter) n.6856G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.18143580G>T | CA8424446 | MYO15A | c.5925G>T (p.Trp1975Cys) c.5905-135G>T (n.5905-135G>T) c.*32G>T (n.*32G>T) c.5919G>T (p.Trp1973Cys) n.6564-135G>T n.6817G>T c.5928G>T (p.Trp1976Cys) n.6856G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |