Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.78225120A>G | CA6205071 | GAB2,USP35 | c.1290T>C (p.Val430=) c.1176T>C (p.Val392=) c.630T>C (p.Val210=) n.1215T>C c.1236T>C (p.Val412=) n.3877A>G n.4420A>G n.3760A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.78225120A= | CA1984593311 | GAB2,USP35 | c.1290T= (p.Val430=) c.1176T= (p.Val392=) c.630T= (p.Val210=) n.1215T= c.1236T= (p.Val412=) n.3877A= n.4420A= n.3760A= | dbSNP |