Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7555041G>A | CA118370 | PNPLA6 | c.2783G>A (p.Arg928His) c.2669G>A (p.Arg890His) c.2813G>A (p.Arg938His) c.2588G>A (p.Arg863His) | ClinVar dbSNP gnomAD v4 |
19 | g.7555041G= | CA2320976411 | PNPLA6 | c.2783G= (p.Arg928=) c.2669G= (p.Arg890=) c.2813G= (p.Arg938=) c.2588G= (p.Arg863=) | dbSNP |