| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.211424241C>A | CA350778713 | ERBB4 | c.2750G>T (p.Arg917Leu) c.2780G>T (p.Arg927Leu) c.2702G>T (p.Arg901Leu) c.2603G>T (p.Arg868Leu) c.2825G>T (p.Arg942Leu) c.2903G>T (p.Arg968Leu) c.2858G>T (p.Arg953Leu) c.2828G>T (p.Arg943Leu) c.2204G>T (p.Arg735Leu) | dbSNP |
| 2 | g.211424241C>T | CA216500 | ERBB4 | c.2750G>A (p.Arg917Gln) c.2780G>A (p.Arg927Gln) c.2702G>A (p.Arg901Gln) c.2603G>A (p.Arg868Gln) c.2825G>A (p.Arg942Gln) c.2903G>A (p.Arg968Gln) c.2858G>A (p.Arg953Gln) c.2828G>A (p.Arg943Gln) c.2204G>A (p.Arg735Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |