| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.95686506G>A | CA204583 | TCTN3 | c.877C>T (p.Gln293Ter) c.931C>T (p.Gln311Ter) n.901C>T c.852+538C>T (n.852+538C>T) c.*132C>T (n.*132C>T) n.543-1882C>T c.640C>T (p.Gln214Ter) n.930C>T n.932C>T c.*130+538C>T (n.*130+538C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.95686506G>T | CA211804788 | TCTN3 | c.877C>A (p.Gln293Lys) c.931C>A (p.Gln311Lys) n.901C>A c.852+538C>A (n.852+538C>A) c.*132C>A (n.*132C>A) n.543-1882C>A c.640C>A (p.Gln214Lys) n.930C>A n.932C>A c.*130+538C>A (n.*130+538C>A) | ClinVar dbSNP gnomAD v4 |