Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.10793851T>ACA172095DNM2n.1312T>A
c.1124T>A (p.Val375Glu)
c.380T>A (p.Val127Glu)
n.484T>A
ClinVar dbSNP
19g.10793851T>CCA404048089DNM2n.1312T>C
c.1124T>C (p.Val375Ala)
c.380T>C (p.Val127Ala)
n.484T>C
ClinVar dbSNP

Number of alleles fetched