| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.211673256C>T | CA2088066 | ERBB4 | c.1624G>A (p.Glu542Lys) c.1546G>A (p.Glu516Lys) c.1623G>A c.1447G>A (p.Glu483Lys) n.1676G>A c.1702G>A (p.Glu568Lys) c.1003G>A (p.Glu335Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.211673256C= | CA1325600472 | ERBB4 | c.1624G= (p.Glu542=) c.1546G= (p.Glu516=) c.1623G= c.1447G= (p.Glu483=) n.1676G= c.1702G= (p.Glu568=) c.1003G= (p.Glu335=) | dbSNP |
| 2 | g.211673256C>A | CA350783600 | ERBB4 | c.1624G>T (p.Glu542Ter) c.1546G>T (p.Glu516Ter) c.1623G>T c.1447G>T (p.Glu483Ter) n.1676G>T c.1702G>T (p.Glu568Ter) c.1003G>T (p.Glu335Ter) | dbSNP gnomAD v4 |