| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.39022786T>G | CA234977 | SOS1 | n.1522A>C c.409A>C (p.Ser137Arg) n.1863A>C n.1649A>C c.1531A>C (p.Ser511Arg) c.1642A>C (p.Ser548Arg) c.1735A>C (p.Ser579Arg) c.1621A>C (p.Ser541Arg) c.1618A>C (p.Ser540Arg) c.1471A>C (p.Ser491Arg) c.577A>C (p.Ser193Arg) | ClinVar dbSNP gnomAD v4 |
| 2 | g.39022786T= | CA1246139535 | SOS1 | n.1522A= c.409A= (p.Ser137=) n.1863A= n.1649A= c.1531A= (p.Ser511=) c.1642A= (p.Ser548=) c.1735A= (p.Ser579=) c.1621A= (p.Ser541=) c.1618A= (p.Ser540=) c.1471A= (p.Ser491=) c.577A= (p.Ser193=) | dbSNP |