| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.70430388C>T | CA340838535 | CTH | c.718C>T (p.Gln240Ter) c.586C>T (p.Gln196Ter) c.622C>T (p.Gln208Ter) n.766C>T c.391C>T (p.Gln131Ter) c.148C>T (p.Gln50Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.70430388C>G | CA115890 | CTH | c.718C>G (p.Gln240Glu) c.586C>G (p.Gln196Glu) c.622C>G (p.Gln208Glu) n.766C>G c.391C>G (p.Gln131Glu) c.148C>G (p.Gln50Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.70430388C= | CA1140495644 | CTH | c.718C= (p.Gln240=) c.586C= (p.Gln196=) c.622C= (p.Gln208=) n.766C= c.391C= (p.Gln131=) c.148C= (p.Gln50=) | dbSNP |
| 1 | g.70430388C>A | CA340838534 | CTH | c.718C>A (p.Gln240Lys) c.586C>A (p.Gln196Lys) c.622C>A (p.Gln208Lys) n.766C>A c.391C>A (p.Gln131Lys) c.148C>A (p.Gln50Lys) | dbSNP gnomAD v4 |