Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.10795378T>GCA144625DNM2n.1323T>G
c.1135T>G (p.Phe379Val)
c.391T>G (p.Phe131Val)
n.495T>G
ClinVar dbSNP
19g.10795378T=CA2322611154DNM2n.1323T=
c.1135T= (p.Phe379=)
c.391T= (p.Phe131=)
n.495T=
dbSNP

Number of alleles fetched