| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.37888306T>C | CA157134554 | EPDR1,NME8 | c.1277T>C (p.Leu426Ser) c.*223T>C (n.*223T>C) c.-38+30961T>C (n.-38+30961T>C) | dbSNP gnomAD v4 |
| 7 | g.37888306T>A | CA340053 | EPDR1,NME8 | c.1277T>A (p.Leu426Ter) c.*223T>A (n.*223T>A) c.-38+30961T>A (n.-38+30961T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |