| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.24190429A>G | CA1550232 | FAM228A | c.536A>G (p.Tyr179Cys) c.*285A>G (n.*285A>G) c.419A>G (p.Tyr140Cys) c.122A>G (p.Tyr41Cys) c.532A>G c.*1546A>G (n.*1546A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.24190429A= | CA1238782657 | FAM228A | c.536A= (p.Tyr179=) c.*285A= (n.*285A=) c.419A= (p.Tyr140=) c.122A= (p.Tyr41=) c.532A= c.*1546A= (n.*1546A=) | dbSNP |