| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.211383719G>C | CA350779610 | ERBB4 | c.3745C>G (p.Arg1249Gly) c.3823C>G (p.Arg1275Gly) c.3697C>G (p.Arg1233Gly) c.3646C>G (p.Arg1216Gly) c.3775C>G (p.Arg1259Gly) c.3820C>G (p.Arg1274Gly) c.3793C>G (p.Arg1265Gly) c.3868C>G (p.Arg1290Gly) c.3946C>G (p.Arg1316Gly) c.3901C>G (p.Arg1301Gly) c.3898C>G (p.Arg1300Gly) c.3871C>G (p.Arg1291Gly) c.3853C>G (p.Arg1285Gly) c.3247C>G (p.Arg1083Gly) | dbSNP gnomAD v4 |
| 2 | g.211383719G>A | CA216502 | ERBB4 | c.3745C>T (p.Arg1249Trp) c.3823C>T (p.Arg1275Trp) c.3697C>T (p.Arg1233Trp) c.3646C>T (p.Arg1216Trp) c.3775C>T (p.Arg1259Trp) c.3820C>T (p.Arg1274Trp) c.3793C>T (p.Arg1265Trp) c.3868C>T (p.Arg1290Trp) c.3946C>T (p.Arg1316Trp) c.3901C>T (p.Arg1301Trp) c.3898C>T (p.Arg1300Trp) c.3871C>T (p.Arg1291Trp) c.3853C>T (p.Arg1285Trp) c.3247C>T (p.Arg1083Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |