| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.39054822A>G | CA261743 | SOS1 | n.539T>C n.1350T>C n.277T>C n.519T>C c.612T>C c.512T>C (p.Val171Ala) c.605T>C (p.Val202Ala) c.491T>C (p.Val164Ala) c.488T>C (p.Val163Ala) c.341T>C (p.Val114Ala) | ClinVar dbSNP gnomAD v4 |
| 2 | g.39054822A>C | CA136165 | SOS1 | n.539T>G n.1350T>G n.277T>G n.519T>G c.612T>G c.512T>G (p.Val171Gly) c.605T>G (p.Val202Gly) c.491T>G (p.Val164Gly) c.488T>G (p.Val163Gly) c.341T>G (p.Val114Gly) | ClinVar dbSNP |