| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.151643935C>G | CA148258 | NEB | c.7839G>C (p.Lys2613Asn) c.7746+93G>C (n.7746+93G>C) c.7701+138G>C (n.7701+138G>C) c.6807+11335G>C (n.6807+11335G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.151643935C= | CA1298278555 | NEB | c.7839G= (p.Lys2613=) c.7746+93G= (n.7746+93G=) c.7701+138G= (n.7701+138G=) c.6807+11335G= (n.6807+11335G=) | dbSNP |