| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.35728145C>T | CA507307225 | KMT2B | c.4479C>T (p.Tyr1493=) c.2086C>T (n.2086C>T) c.512C>T c.4087C>T c.1093C>T (n.1093C>T) c.4545C>T (p.Tyr1515=) c.48C>T (p.Tyr16=) c.1867C>T c.4269C>T (p.Tyr1423=) n.4569C>T c.3981C>T (p.Tyr1327=) c.1509C>T (p.Tyr503=) n.4746C>T | dbSNP gnomAD v4 |
| 19 | g.35728145C>A | CA16043952 | KMT2B | c.4479C>A (p.Tyr1493Ter) c.2086C>A (n.2086C>A) c.512C>A c.4087C>A c.1093C>A (n.1093C>A) c.4545C>A (p.Tyr1515Ter) c.48C>A (p.Tyr16Ter) c.1867C>A c.4269C>A (p.Tyr1423Ter) n.4569C>A c.3981C>A (p.Tyr1327Ter) c.1509C>A (p.Tyr503Ter) n.4746C>A | ClinVar dbSNP |