Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.211378020G>C | CA11043820 | ERBB4 | c.*5595C>G (n.*5595C>G) c.9396C>G (n.9396C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.211378020G>T | CA1325460274 | ERBB4 | c.*5595C>A (n.*5595C>A) c.9396C>A (n.9396C>A) | dbSNP |
2 | g.211378020G>A | CA764194064 | ERBB4 | c.*5595C>T (n.*5595C>T) c.9396C>T (n.9396C>T) | dbSNP gnomAD v3 gnomAD v4 |