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 |