Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.80460829T>C | CA240226930 | PTPRQ | c.837T>C (p.Tyr279=) c.963T>C (p.Tyr321=) c.1503T>C (p.Tyr501=) n.1640T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.80460829T>A | CA170839 | PTPRQ | c.837T>A (p.Tyr279Ter) c.963T>A (p.Tyr321Ter) c.1503T>A (p.Tyr501Ter) n.1640T>A | ClinVar dbSNP gnomAD v4 |