| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.28871920A>T | CA7986211 | SH2B1 | c.1450A>T (p.Thr484Ser) c.442A>T (p.Thr148Ser) c.520A>T (p.Thr174Ser) n.69-1008A>T c.511A>T (p.Thr171Ser) n.321A>T c.1310-270A>T (n.1310-270A>T) n.2164A>T c.355A>T (p.Thr119Ser) n.2141A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28871920A>G | CA7986210 | SH2B1 | c.1450A>G (p.Thr484Ala) c.442A>G (p.Thr148Ala) c.520A>G (p.Thr174Ala) n.69-1008A>G c.511A>G (p.Thr171Ala) n.321A>G c.1310-270A>G (n.1310-270A>G) n.2164A>G c.355A>G (p.Thr119Ala) n.2141A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |