| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.152098960G>T | CA452746677 | ESR1 | c.1782G>T (p.Thr594=) n.1070+40G>T c.999G>T (p.Thr333=) c.851-26306G>T (n.851-26306G>T) c.*657G>T (n.*657G>T) c.1788G>T (p.Thr596=) c.1779G>T (p.Thr593=) c.*197G>T (n.*197G>T) c.1263G>T (p.Thr421=) c.1053G>T (p.Thr351=) c.1125G>T (p.Thr375=) c.993G>T (p.Thr331=) n.1829G>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.152098960G>A | CA4052546 | ESR1 | c.1782G>A (p.Thr594=) n.1070+40G>A c.999G>A (p.Thr333=) c.851-26306G>A (n.851-26306G>A) c.*657G>A (n.*657G>A) c.1788G>A (p.Thr596=) c.1779G>A (p.Thr593=) c.*197G>A (n.*197G>A) c.1263G>A (p.Thr421=) c.1053G>A (p.Thr351=) c.1125G>A (p.Thr375=) c.993G>A (p.Thr331=) n.1829G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |