Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.41160700G>T | CA411696543 | EP300 | c.*1569G>T (n.*1569G>T) c.3649G>T (p.Asp1217Tyr) c.3571G>T (p.Asp1191Tyr) | dbSNP |
22 | g.41160700G>A | CA411696538 | EP300 | c.*1569G>A (n.*1569G>A) c.3649G>A (p.Asp1217Asn) c.3571G>A (p.Asp1191Asn) | ClinVar dbSNP |
22 | g.41160700G>C | CA411696541 | EP300 | c.*1569G>C (n.*1569G>C) c.3649G>C (p.Asp1217His) c.3571G>C (p.Asp1191His) | dbSNP |