| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.4933086C>T | CA8314782 | CHRNE,GP1BA | c.482C>T (p.Thr161Met) c.-888+1256G>A (n.-888+1256G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933086C>G | CA397316831 | CHRNE,GP1BA | c.482C>G (p.Thr161Arg) c.-888+1256G>C (n.-888+1256G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933086C= | CA2244625428 | CHRNE,GP1BA | c.482C= (p.Thr161=) c.-888+1256G= (n.-888+1256G=) | dbSNP |