| 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 |
| 17 | g.80113242G>T | CA401370421 | GAA | c.2065G>T (p.Glu689Ter) c.*203G>T (n.*203G>T) n.505G>T c.484G>T | dbSNP gnomAD v4 |
| 17 | g.80113242G= | CA2277815432 | GAA | c.2065G= (p.Glu689=) c.*203G= (n.*203G=) n.505G= c.484G= | dbSNP |