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 |
21 | g.34886941G= | CA2387297161 | RUNX1 | c.253C= (p.His85=) c.172C= (p.His58=) c.217C= (p.His73=) c.214C= (p.His72=) c.59-6228C= (n.59-6228C=) n.432C= c.100C= (p.His34=) n.479C= | dbSNP |
21 | g.34886941G>C | CA410203799 | RUNX1 | c.253C>G (p.His85Asp) c.172C>G (p.His58Asp) c.217C>G (p.His73Asp) c.214C>G (p.His72Asp) c.59-6228C>G (n.59-6228C>G) n.432C>G c.100C>G (p.His34Asp) n.479C>G | dbSNP |