| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15644611A>G | CA278012 | BTD | c.695A>G (p.Asp232Gly) c.399+2554A>G (n.399+2554A>G) c.165+2554A>G (n.165+2554A>G) c.755A>G (p.Asp252Gly) c.761A>G (p.Asp254Gly) c.473A>G (p.Asp158Gly) c.*2473A>G (n.*2473A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644611A= | CA1347664086 | BTD | c.695A= (p.Asp232=) c.399+2554A= (n.399+2554A=) c.165+2554A= (n.165+2554A=) c.755A= (p.Asp252=) c.761A= (p.Asp254=) c.473A= (p.Asp158=) c.*2473A= (n.*2473A=) | dbSNP |