| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.8302825C>T | CA289989 | CD320,ELAVL1 | c.658G>A (p.Gly220Arg) c.-87-40821G>A (n.-87-40821G>A) c.532G>A (p.Gly178Arg) c.*946G>A (n.*946G>A) c.524G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.8302825C= | CA2321351684 | CD320,ELAVL1 | c.658G= (p.Gly220=) c.-87-40821G= (n.-87-40821G=) c.532G= (p.Gly178=) c.*946G= (n.*946G=) c.524G= | dbSNP |