Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.80280193G>TCA210326839MAT1Ac.529C>A (p.Arg177=)
c.340C>A (p.Arg114=)
c.406C>A (p.Arg136=)
dbSNP
10g.80280193G>ACA5576773MAT1Ac.529C>T (p.Arg177Trp)
c.340C>T (p.Arg114Trp)
c.406C>T (p.Arg136Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched