| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.39723335A>G | CA123559 | ERBB2 | c.1963A>G (p.Ile655Val) c.1873A>G (p.Ile625Val) c.1135A>G (p.Ile379Val) c.1918A>G (p.Ile640Val) c.*1753A>G (n.*1753A>G) n.572A>G c.69A>G c.281A>G n.3097A>G n.2287A>G c.2101A>G (p.Ile701Val) c.2056A>G (p.Ile686Val) c.2011A>G (p.Ile671Val) c.2080A>G (p.Ile694Val) c.2065A>G (p.Ile689Val) c.2038A>G (p.Ile680Val) c.1993A>G (p.Ile665Val) c.1984A>G (p.Ile662Val) c.1960A>G (p.Ile654Val) c.1954A>G (p.Ile652Val) c.1915A>G (p.Ile639Val) c.1783A>G (p.Ile595Val) c.1705A>G (p.Ile569Val) c.1223-629A>G (n.1223-629A>G) n.2201A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39723335A>C | CA399299462 | ERBB2 | c.1963A>C (p.Ile655Leu) c.1873A>C (p.Ile625Leu) c.1135A>C (p.Ile379Leu) c.1918A>C (p.Ile640Leu) c.*1753A>C (n.*1753A>C) n.572A>C c.69A>C c.281A>C n.3097A>C n.2287A>C c.2101A>C (p.Ile701Leu) c.2056A>C (p.Ile686Leu) c.2011A>C (p.Ile671Leu) c.2080A>C (p.Ile694Leu) c.2065A>C (p.Ile689Leu) c.2038A>C (p.Ile680Leu) c.1993A>C (p.Ile665Leu) c.1984A>C (p.Ile662Leu) c.1960A>C (p.Ile654Leu) c.1954A>C (p.Ile652Leu) c.1915A>C (p.Ile639Leu) c.1783A>C (p.Ile595Leu) c.1705A>C (p.Ile569Leu) c.1223-629A>C (n.1223-629A>C) n.2201A>C | dbSNP |
| 17 | g.39723335A>T | CA290439001 | ERBB2 | c.1963A>T (p.Ile655Phe) c.1873A>T (p.Ile625Phe) c.1135A>T (p.Ile379Phe) c.1918A>T (p.Ile640Phe) c.*1753A>T (n.*1753A>T) n.572A>T c.69A>T c.281A>T n.3097A>T n.2287A>T c.2101A>T (p.Ile701Phe) c.2056A>T (p.Ile686Phe) c.2011A>T (p.Ile671Phe) c.2080A>T (p.Ile694Phe) c.2065A>T (p.Ile689Phe) c.2038A>T (p.Ile680Phe) c.1993A>T (p.Ile665Phe) c.1984A>T (p.Ile662Phe) c.1960A>T (p.Ile654Phe) c.1954A>T (p.Ile652Phe) c.1915A>T (p.Ile639Phe) c.1783A>T (p.Ile595Phe) c.1705A>T (p.Ile569Phe) c.1223-629A>T (n.1223-629A>T) n.2201A>T | dbSNP |