| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.112486482C>T | CA256755 | PTPN11 | c.1232C>T (p.Thr411Met) c.1118C>T (p.Thr373Met) c.1224+4277C>T (n.1224+4277C>T) n.441C>T c.1244C>T (p.Thr415Met) c.245C>T (p.Thr82Met) c.1130C>T (p.Thr377Met) c.1241C>T (p.Thr414Met) c.1229C>T (p.Thr410Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.112486482C>A | CA6798753 | PTPN11 | c.1232C>A (p.Thr411Lys) c.1118C>A (p.Thr373Lys) c.1224+4277C>A (n.1224+4277C>A) n.441C>A c.1244C>A (p.Thr415Lys) c.245C>A (p.Thr82Lys) c.1130C>A (p.Thr377Lys) c.1241C>A (p.Thr414Lys) c.1229C>A (p.Thr410Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112486482C= | CA2063782974 | PTPN11 | c.1232C= (p.Thr411=) c.1118C= (p.Thr373=) c.1224+4277C= (n.1224+4277C=) n.441C= c.1244C= (p.Thr415=) c.245C= (p.Thr82=) c.1130C= (p.Thr377=) c.1241C= (p.Thr414=) c.1229C= (p.Thr410=) | dbSNP |