| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.4719343C>T | CA8308791 | ARRB2 | c.840C>T (p.Ser280=) c.795C>T (p.Ser265=) c.903C>T (p.Ser301=) c.264C>T (p.Ser88=) c.*318C>T (n.*318C>T) c.786+54C>T (n.786+54C>T) c.722C>T (n.722C>T) n.1037C>T c.933C>T (p.Ser311=) c.888C>T (p.Ser296=) n.847C>T n.899C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4719343C= | CA2244519341 | ARRB2 | c.840C= (p.Ser280=) c.795C= (p.Ser265=) c.903C= (p.Ser301=) c.264C= (p.Ser88=) c.*318C= (n.*318C=) c.786+54C= (n.786+54C=) c.722C= (n.722C=) n.1037C= c.933C= (p.Ser311=) c.888C= (p.Ser296=) n.847C= n.899C= | dbSNP |