Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.201640915G>A | CA260000 | TMEM237 | c.-378C>T (n.-378C>T) c.52C>T (p.Arg18Ter) c.-23C>T (n.-23C>T) c.28C>T (p.Arg10Ter) n.55C>T n.70C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.201640915G= | CA1321141186 | TMEM237 | c.-378C= (n.-378C=) c.52C= (p.Arg18=) c.-23C= (n.-23C=) c.28C= (p.Arg10=) n.55C= n.70C= | dbSNP |