| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.120641660C>T | CA340049 | HGD | c.808G>A (p.Gly270Arg) n.148G>A c.236G>A c.214G>A (p.Gly72Arg) c.228G>A c.583G>A (p.Gly195Arg) c.385G>A (p.Gly129Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.120641660C>A | CA81783990 | HGD | c.808G>T (p.Gly270Trp) n.148G>T c.236G>T c.214G>T (p.Gly72Trp) c.228G>T c.583G>T (p.Gly195Trp) c.385G>T (p.Gly129Trp) | dbSNP COSMIC |