| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.2191309C>G | CA151093 | SMARCA2 | c.4224C>G (p.Asp1408Glu) c.1776C>G (p.Asp592Glu) c.1830C>G (p.Asp610Glu) c.4568C>G c.2948C>G c.4638C>G (p.Asp1546Glu) c.4584C>G (p.Asp1528Glu) n.3252C>G n.2191C>G c.*434C>G (n.*434C>G) n.1672C>G c.691C>G c.702C>G (p.Asp234Glu) c.612C>G (p.Asp204Glu) c.576C>G (p.Asp192Glu) c.696C>G (p.Asp232Glu) c.630C>G (p.Asp210Glu) c.4410C>G (p.Asp1470Glu) c.*245C>G (n.*245C>G) c.648C>G (p.Asp216Glu) n.480C>G c.729C>G n.1362-10287G>C n.1316-10287G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.2191309C= | CA1827967555 | SMARCA2 | c.4224C= (p.Asp1408=) c.1776C= (p.Asp592=) c.1830C= (p.Asp610=) c.4568C= c.2948C= c.4638C= (p.Asp1546=) c.4584C= (p.Asp1528=) n.3252C= n.2191C= c.*434C= (n.*434C=) n.1672C= c.691C= c.702C= (p.Asp234=) c.612C= (p.Asp204=) c.576C= (p.Asp192=) c.696C= (p.Asp232=) c.630C= (p.Asp210=) c.4410C= (p.Asp1470=) c.*245C= (n.*245C=) c.648C= (p.Asp216=) n.480C= c.729C= n.1362-10287G= n.1316-10287G= | dbSNP |