| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63488670G>A | CA8700063 | ACE | c.2328G>A (p.Thr776=) c.606G>A (p.Thr202=) c.*398G>A (n.*398G>A) c.587G>A (n.587G>A) c.*57G>A (n.*57G>A) c.*248G>A (n.*248G>A) c.96G>A (p.Thr32=) n.274G>A c.1779G>A (p.Thr593=) c.666G>A (p.Thr222=) c.1761G>A (p.Thr587=) c.1476G>A (p.Thr492=) c.258G>A (p.Thr86=) n.706G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63488670G= | CA2269945938 | ACE | c.2328G= (p.Thr776=) c.606G= (p.Thr202=) c.*398G= (n.*398G=) c.587G= (n.587G=) c.*57G= (n.*57G=) c.*248G= (n.*248G=) c.96G= (p.Thr32=) n.274G= c.1779G= (p.Thr593=) c.666G= (p.Thr222=) c.1761G= (p.Thr587=) c.1476G= (p.Thr492=) c.258G= (p.Thr86=) n.706G= | dbSNP |
| 17 | g.63488670G>T | CA501186763 | ACE | c.2328G>T (p.Thr776=) c.606G>T (p.Thr202=) c.*398G>T (n.*398G>T) c.587G>T (n.587G>T) c.*57G>T (n.*57G>T) c.*248G>T (n.*248G>T) c.96G>T (p.Thr32=) n.274G>T c.1779G>T (p.Thr593=) c.666G>T (p.Thr222=) c.1761G>T (p.Thr587=) c.1476G>T (p.Thr492=) c.258G>T (p.Thr86=) n.706G>T | dbSNP gnomAD v4 |