Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.10793832C>TCA118658DNM2n.1293C>T
c.1105C>T (p.Arg369Trp)
c.361C>T (p.Arg121Trp)
n.465C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.10793832C=CA2322610461DNM2n.1293C=
c.1105C= (p.Arg369=)
c.361C= (p.Arg121=)
n.465C=
 dbSNP

Number of alleles fetched