Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.129464444C>T | CA123851 | LAMA2 | c.7147C>T (p.Arg2383Ter) c.7411C>T (p.Arg2471Ter) n.778C>T n.486C>T c.7144C>T (p.Arg2382Ter) c.7405C>T (p.Arg2469Ter) c.7417C>T (p.Arg2473Ter) c.5542C>T (p.Arg1848Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.129464444C>A | CA3994451 | LAMA2 | c.7147C>A (p.Arg2383=) c.7411C>A (p.Arg2471=) n.778C>A n.486C>A c.7144C>A (p.Arg2382=) c.7405C>A (p.Arg2469=) c.7417C>A (p.Arg2473=) c.5542C>A (p.Arg1848=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |