Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11426182C>G | CA404122913 | ODAD3 | c.925G>C (p.Glu309Gln) c.352G>C (p.Glu118Gln) c.745G>C (p.Glu249Gln) c.*844G>C (n.*844G>C) c.763G>C (p.Glu255Gln) c.904+21G>C (n.904+21G>C) | dbSNP gnomAD v4 |
19 | g.11426182C>A | CA170851 | ODAD3 | c.925G>T (p.Glu309Ter) c.352G>T (p.Glu118Ter) c.745G>T (p.Glu249Ter) c.*844G>T (n.*844G>T) c.763G>T (p.Glu255Ter) c.904+21G>T (n.904+21G>T) | ClinVar dbSNP |
19 | g.11426182C>T | CA404122916 | ODAD3 | c.925G>A (p.Glu309Lys) c.352G>A (p.Glu118Lys) c.745G>A (p.Glu249Lys) c.*844G>A (n.*844G>A) c.763G>A (p.Glu255Lys) c.904+21G>A (n.904+21G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |