Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.10812315G>TCA118664DNM2n.1040G>T
c.1609G>T (p.Gly537Cys)
c.1597G>T (p.Gly533Cys)
n.3108G>T
n.3797G>T
ClinVar dbSNP
19g.10812315G>ACA10584607DNM2n.1040G>A
c.1609G>A (p.Gly537Ser)
c.1597G>A (p.Gly533Ser)
n.3108G>A
n.3797G>A
ClinVar dbSNP

Number of alleles fetched