Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.4247625G>T | CA1759188224 | CSMD1 | c.415+172328C>A (n.415+172328C>A) | dbSNP |
8 | g.4247625G>C | CA1759188223 | CSMD1 | c.415+172328C>G (n.415+172328C>G) | dbSNP |
8 | g.4247625G>A | CA16323852 | CSMD1 | c.415+172328C>T (n.415+172328C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |