| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15644485A>G | CA278239 | BTD | c.569A>G (p.Tyr190Cys) c.399+2428A>G (n.399+2428A>G) c.165+2428A>G (n.165+2428A>G) c.629A>G (p.Tyr210Cys) c.635A>G (p.Tyr212Cys) c.347A>G (p.Tyr116Cys) c.*2347A>G (n.*2347A>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.15644485A= | CA1347663799 | BTD | c.569A= (p.Tyr190=) c.399+2428A= (n.399+2428A=) c.165+2428A= (n.165+2428A=) c.629A= (p.Tyr210=) c.635A= (p.Tyr212=) c.347A= (p.Tyr116=) c.*2347A= (n.*2347A=) | dbSNP |