| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.123706833T>A | CA199170 | TCTN2 | c.1877T>A (p.Leu626Ter) c.1874T>A (p.Leu625Ter) n.978T>A c.*249T>A (n.*249T>A) c.1742T>A (p.Leu581Ter) n.2649T>A c.965T>A (p.Leu322Ter) c.1739T>A (p.Leu580Ter) | ClinVar dbSNP |
| 12 | g.123706833T>C | CA387148781 | TCTN2 | c.1877T>C (p.Leu626Ser) c.1874T>C (p.Leu625Ser) n.978T>C c.*249T>C (n.*249T>C) c.1742T>C (p.Leu581Ser) n.2649T>C c.965T>C (p.Leu322Ser) c.1739T>C (p.Leu580Ser) | dbSNP gnomAD v2 gnomAD v4 |