| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.39723332A>T | CA399299430 | ERBB2 | c.1960A>T (p.Ile654Phe) c.1870A>T (p.Ile624Phe) c.1132A>T (p.Ile378Phe) c.1915A>T (p.Ile639Phe) c.*1750A>T (n.*1750A>T) n.569A>T c.66A>T c.278A>T n.3094A>T n.2284A>T c.2098A>T (p.Ile700Phe) c.2053A>T (p.Ile685Phe) c.2008A>T (p.Ile670Phe) c.2077A>T (p.Ile693Phe) c.2062A>T (p.Ile688Phe) c.2035A>T (p.Ile679Phe) c.1990A>T (p.Ile664Phe) c.1981A>T (p.Ile661Phe) c.1957A>T (p.Ile653Phe) c.1951A>T (p.Ile651Phe) c.1912A>T (p.Ile638Phe) c.1780A>T (p.Ile594Phe) c.1702A>T (p.Ile568Phe) c.1223-632A>T (n.1223-632A>T) n.2198A>T | dbSNP |
| 17 | g.39723332A>C | CA8534188 | ERBB2 | c.1960A>C (p.Ile654Leu) c.1870A>C (p.Ile624Leu) c.1132A>C (p.Ile378Leu) c.1915A>C (p.Ile639Leu) c.*1750A>C (n.*1750A>C) n.569A>C c.66A>C c.278A>C n.3094A>C n.2284A>C c.2098A>C (p.Ile700Leu) c.2053A>C (p.Ile685Leu) c.2008A>C (p.Ile670Leu) c.2077A>C (p.Ile693Leu) c.2062A>C (p.Ile688Leu) c.2035A>C (p.Ile679Leu) c.1990A>C (p.Ile664Leu) c.1981A>C (p.Ile661Leu) c.1957A>C (p.Ile653Leu) c.1951A>C (p.Ile651Leu) c.1912A>C (p.Ile638Leu) c.1780A>C (p.Ile594Leu) c.1702A>C (p.Ile568Leu) c.1223-632A>C (n.1223-632A>C) n.2198A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39723332A>G | CA123566 | ERBB2 | c.1960A>G (p.Ile654Val) c.1870A>G (p.Ile624Val) c.1132A>G (p.Ile378Val) c.1915A>G (p.Ile639Val) c.*1750A>G (n.*1750A>G) n.569A>G c.66A>G c.278A>G n.3094A>G n.2284A>G c.2098A>G (p.Ile700Val) c.2053A>G (p.Ile685Val) c.2008A>G (p.Ile670Val) c.2077A>G (p.Ile693Val) c.2062A>G (p.Ile688Val) c.2035A>G (p.Ile679Val) c.1990A>G (p.Ile664Val) c.1981A>G (p.Ile661Val) c.1957A>G (p.Ile653Val) c.1951A>G (p.Ile651Val) c.1912A>G (p.Ile638Val) c.1780A>G (p.Ile594Val) c.1702A>G (p.Ile568Val) c.1223-632A>G (n.1223-632A>G) n.2198A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |