| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21220008G>A | CA120130 | ECE1 | c.2260C>T (p.Arg754Cys) c.2212C>T (p.Arg738Cys) c.2251C>T (p.Arg751Cys) c.2224C>T (p.Arg742Cys) c.2164C>T (p.Arg722Cys) n.459C>T c.2209C>T (p.Arg737Cys) c.2284C>T (p.Arg762Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21220008G>T | CA339254647 | ECE1 | c.2260C>A (p.Arg754Ser) c.2212C>A (p.Arg738Ser) c.2251C>A (p.Arg751Ser) c.2224C>A (p.Arg742Ser) c.2164C>A (p.Arg722Ser) n.459C>A c.2209C>A (p.Arg737Ser) c.2284C>A (p.Arg762Ser) | dbSNP gnomAD v4 |
| 1 | g.21220008G>C | CA339254646 | ECE1 | c.2260C>G (p.Arg754Gly) c.2212C>G (p.Arg738Gly) c.2251C>G (p.Arg751Gly) c.2224C>G (p.Arg742Gly) c.2164C>G (p.Arg722Gly) n.459C>G c.2209C>G (p.Arg737Gly) c.2284C>G (p.Arg762Gly) | dbSNP |
| 1 | g.21220008G= | CA1139981751 | ECE1 | c.2260C= (p.Arg754=) c.2212C= (p.Arg738=) c.2251C= (p.Arg751=) c.2224C= (p.Arg742=) c.2164C= (p.Arg722=) n.459C= c.2209C= (p.Arg737=) c.2284C= (p.Arg762=) | dbSNP |