Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.112450408G>A | CA481881807 | PTPN11 | c.228G>A (p.Glu76=) c.225G>A (p.Glu75=) | ClinVar dbSNP |
12 | g.112450408G>C | CA261577 | PTPN11 | c.228G>C (p.Glu76Asp) c.225G>C (p.Glu75Asp) | ClinVar dbSNP gnomAD v4 |
12 | g.112450408G>T | CA261580 | PTPN11 | c.228G>T (p.Glu76Asp) c.225G>T (p.Glu75Asp) | ClinVar dbSNP |