| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.201205929C>T | CA119059 | CASP10 | c.721+2163C>T (n.721+2163C>T) c.685-2146C>T (n.685-2146C>T) c.*271-2146C>T (n.*271-2146C>T) c.722-2146C>T (n.722-2146C>T) c.769C>T (p.Gln257Ter) n.973C>T n.722-2146C>T c.766C>T (p.Gln256Ter) c.64-2146C>T (n.64-2146C>T) c.719-2146C>T (n.719-2146C>T) n.926-2146C>T | ClinVar dbSNP |
| 2 | g.201205929C>A | CA2053043 | CASP10 | c.721+2163C>A (n.721+2163C>A) c.685-2146C>A (n.685-2146C>A) c.*271-2146C>A (n.*271-2146C>A) c.722-2146C>A (n.722-2146C>A) c.769C>A (p.Gln257Lys) n.973C>A n.722-2146C>A c.766C>A (p.Gln256Lys) c.64-2146C>A (n.64-2146C>A) c.719-2146C>A (n.719-2146C>A) n.926-2146C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |