| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.39024080T>C | CA261714 | SOS1 | n.1012A>G n.1353A>G n.1139A>G c.1319A>G c.1021A>G (p.Thr341Ala) c.1132A>G (p.Thr378Ala) c.1225A>G (p.Thr409Ala) c.1111A>G (p.Thr371Ala) c.1108A>G (p.Thr370Ala) c.961A>G (p.Thr321Ala) c.67A>G (p.Thr23Ala) | ClinVar dbSNP |
| 2 | g.39024080T= | CA1246140918 | SOS1 | n.1012A= n.1353A= n.1139A= c.1319A= c.1021A= (p.Thr341=) c.1132A= (p.Thr378=) c.1225A= (p.Thr409=) c.1111A= (p.Thr371=) c.1108A= (p.Thr370=) c.961A= (p.Thr321=) c.67A= (p.Thr23=) | dbSNP |
| 2 | g.39024080T>A | CA346366896 | SOS1 | n.1012A>T n.1353A>T n.1139A>T c.1319A>T c.1021A>T (p.Thr341Ser) c.1132A>T (p.Thr378Ser) c.1225A>T (p.Thr409Ser) c.1111A>T (p.Thr371Ser) c.1108A>T (p.Thr370Ser) c.961A>T (p.Thr321Ser) c.67A>T (p.Thr23Ser) | dbSNP COSMIC |