Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.110292122C>T | CA127415 | ATP2A2 | c.-54C>T (n.-54C>T) c.322C>T (p.Gln108Ter) c.*162C>T (n.*162C>T) c.74C>T c.21C>T (p.Gly7=) n.328C>T | ClinVar dbSNP |
12 | g.110292122C= | CA2062756805 | ATP2A2 | c.-54C= (n.-54C=) c.322C= (p.Gln108=) c.*162C= (n.*162C=) c.74C= c.21C= (p.Gly7=) n.328C= | dbSNP |