| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.211705339G>T | CA2088208 | ERBB4 | c.1177C>A (p.Arg393=) c.1099C>A (p.Arg367=) c.1176C>A c.1000C>A (p.Arg334=) n.1229C>A c.1255C>A (p.Arg419=) c.556C>A (p.Arg186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.211705339G>A | CA16602627 | ERBB4 | c.1177C>T (p.Arg393Trp) c.1099C>T (p.Arg367Trp) c.1176C>T c.1000C>T (p.Arg334Trp) n.1229C>T c.1255C>T (p.Arg419Trp) c.556C>T (p.Arg186Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 2 | g.211705339G= | CA1325616249 | ERBB4 | c.1177C= (p.Arg393=) c.1099C= (p.Arg367=) c.1176C= c.1000C= (p.Arg334=) n.1229C= c.1255C= (p.Arg419=) c.556C= (p.Arg186=) | dbSNP |