| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.123638288A>G | CA163440 | SCN3B | c.482T>C (p.Met161Thr) n.325T>C c.231T>C c.*463T>C (n.*463T>C) n.2837T>C n.889T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.123638288A= | CA2005866107 | SCN3B | c.482T= (p.Met161=) n.325T= c.231T= c.*463T= (n.*463T=) n.2837T= n.889T= | dbSNP |