Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.49074671A>G | CA12836298 | PPDPFL | c.233+338A>G (n.233+338A>G) c.*140A>G (n.*140A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.49074671A= | CA1782443941 | PPDPFL | c.233+338A= (n.233+338A=) c.*140A= (n.*140A=) | dbSNP |