| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.211387139T>C | CA2087490 | ERBB4 | c.3117A>G (p.Val1039=) c.3195A>G (p.Val1065=) c.3069A>G (p.Val1023=) c.3018A>G (p.Val1006=) c.3147A>G (p.Val1049=) c.3192A>G (p.Val1064=) c.3165A>G (p.Val1055=) c.3240A>G (p.Val1080=) c.3318A>G (p.Val1106=) c.3273A>G (p.Val1091=) c.3270A>G (p.Val1090=) c.3243A>G (p.Val1081=) c.3225A>G (p.Val1075=) c.2619A>G (p.Val873=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.211387139T= | CA1325464386 | ERBB4 | c.3117A= (p.Val1039=) c.3195A= (p.Val1065=) c.3069A= (p.Val1023=) c.3018A= (p.Val1006=) c.3147A= (p.Val1049=) c.3192A= (p.Val1064=) c.3165A= (p.Val1055=) c.3240A= (p.Val1080=) c.3318A= (p.Val1106=) c.3273A= (p.Val1091=) c.3270A= (p.Val1090=) c.3243A= (p.Val1081=) c.3225A= (p.Val1075=) c.2619A= (p.Val873=) | dbSNP |