| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.112450416A>T | CA386777923 | PTPN11 | c.236A>T (p.Gln79Leu) c.233A>T (p.Gln78Leu) | dbSNP |
| 12 | g.112450416A>G | CA235322 | PTPN11 | c.236A>G (p.Gln79Arg) c.233A>G (p.Gln78Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.112450416A= | CA2063740346 | PTPN11 | c.236A= (p.Gln79=) c.233A= (p.Gln78=) | dbSNP |
| 12 | g.112450416A>C | CA386777926 | PTPN11 | c.236A>C (p.Gln79Pro) c.233A>C (p.Gln78Pro) | ClinVar dbSNP gnomAD v4 |