Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80113242G>C | CA401370419 | GAA | c.2065G>C (p.Glu689Gln) c.*203G>C (n.*203G>C) n.505G>C c.484G>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80113242G>A | CA116612 | GAA | c.2065G>A (p.Glu689Lys) c.*203G>A (n.*203G>A) n.505G>A c.484G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |