| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80117094G>T | CA16607903 | GAA | c.2316G>T (p.Trp772Cys) c.*454G>T (n.*454G>T) n.269G>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.80117094G= | CA2277817307 | GAA | c.2316G= (p.Trp772=) c.*454G= (n.*454G=) n.269G= | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80117094G>T | CA16607903 | GAA | c.2316G>T (p.Trp772Cys) c.*454G>T (n.*454G>T) n.269G>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.80117094G= | CA2277817307 | GAA | c.2316G= (p.Trp772=) c.*454G= (n.*454G=) n.269G= | dbSNP |