| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34880665C>T | CA410202694 | RUNX1 | c.400G>A (p.Ala134Thr) c.319G>A (p.Ala107Thr) c.364G>A (p.Ala122Thr) c.361G>A (p.Ala121Thr) c.107G>A (p.Gly36Asp) n.579G>A c.247G>A (p.Ala83Thr) n.626G>A | ClinVar dbSNP |
| 21 | g.34880665C>A | CA410202693 | RUNX1 | c.400G>T (p.Ala134Ser) c.319G>T (p.Ala107Ser) c.364G>T (p.Ala122Ser) c.361G>T (p.Ala121Ser) c.107G>T (p.Gly36Val) n.579G>T c.247G>T (p.Ala83Ser) n.626G>T | dbSNP |
| 21 | g.34880665C>G | CA248623 | RUNX1 | c.400G>C (p.Ala134Pro) c.319G>C (p.Ala107Pro) c.364G>C (p.Ala122Pro) c.361G>C (p.Ala121Pro) c.107G>C (p.Gly36Ala) n.579G>C c.247G>C (p.Ala83Pro) n.626G>C | ClinVar dbSNP COSMIC COSMIC |
| 21 | g.34880665C= | CA2387294362 | RUNX1 | c.400G= (p.Ala134=) c.319G= (p.Ala107=) c.364G= (p.Ala122=) c.361G= (p.Ala121=) c.107G= (p.Gly36=) n.579G= c.247G= (p.Ala83=) n.626G= | dbSNP |