Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.129464444C>TCA123851LAMA2c.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
6g.129464444C>ACA3994451LAMA2c.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

Number of alleles fetched