Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.142370412A>C | CA4026696 | ADGRG6 | c.688A>C (p.Lys230Gln) n.1068A>C c.685A>C (p.Lys229Gln) n.616+184A>C c.691A>C (p.Lys231Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.142370412A= | CA1668770993 | ADGRG6 | c.688A= (p.Lys230=) n.1068A= c.685A= (p.Lys229=) n.616+184A= c.691A= (p.Lys231=) | dbSNP |