Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.4625619A>C | CA1109983454 | CSMD1 | c.302+11723T>G (n.302+11723T>G) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.4625619A>G | CA16324068 | CSMD1 | c.302+11723T>C (n.302+11723T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.4625619A= | CA1759514633 | CSMD1 | c.302+11723T= (n.302+11723T=) | dbSNP |