| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.112472981G>A | CA234739 | PTPN11 | c.794G>A (p.Arg265Gln) c.680G>A (p.Arg227Gln) c.791G>A (p.Arg264Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.112472981G>T | CA386788665 | PTPN11 | c.794G>T (p.Arg265Leu) c.680G>T (p.Arg227Leu) c.791G>T (p.Arg264Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112472981G= | CA2063770250 | PTPN11 | c.794G= (p.Arg265=) c.680G= (p.Arg227=) c.791G= (p.Arg264=) | dbSNP |