Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.66638300G>A | CA4278242 | KCTD7 | c.362G>A (p.Arg121His) c.340G>A c.192G>A (p.Ala64=) c.187G>A c.166G>A c.232G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.66638300G>T | CA315702 | KCTD7 | c.362G>T (p.Arg121Leu) c.340G>T c.192G>T (p.Ala64=) c.187G>T c.166G>T c.232G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |