Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.34886941G>T | CA123975 | RUNX1 | c.253C>A (p.His85Asn) c.172C>A (p.His58Asn) c.217C>A (p.His73Asn) c.214C>A (p.His72Asn) c.59-6228C>A (n.59-6228C>A) n.432C>A c.100C>A (p.His34Asn) n.479C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.34886941G>A | CA410203798 | RUNX1 | c.253C>T (p.His85Tyr) c.172C>T (p.His58Tyr) c.217C>T (p.His73Tyr) c.214C>T (p.His72Tyr) c.59-6228C>T (n.59-6228C>T) n.432C>T c.100C>T (p.His34Tyr) n.479C>T | ClinVar dbSNP |