| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34880698C>G | CA10014524 | RUNX1 | c.367G>C (p.Asp123His) c.286G>C (p.Asp96His) c.331G>C (p.Asp111His) c.328G>C (p.Asp110His) c.74G>C (p.Gly25Ala) n.546G>C c.214G>C (p.Asp72His) n.593G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.34880698C>T | CA10014525 | RUNX1 | c.367G>A (p.Asp123Asn) c.286G>A (p.Asp96Asn) c.331G>A (p.Asp111Asn) c.328G>A (p.Asp110Asn) c.74G>A (p.Gly25Glu) n.546G>A c.214G>A (p.Asp72Asn) n.593G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.34880698C>A | CA410202763 | RUNX1 | c.367G>T (p.Asp123Tyr) c.286G>T (p.Asp96Tyr) c.331G>T (p.Asp111Tyr) c.328G>T (p.Asp110Tyr) c.74G>T (p.Gly25Val) n.546G>T c.214G>T (p.Asp72Tyr) n.593G>T | dbSNP gnomAD v4 |