| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15644499C>G | CA2277354 | BTD | c.583C>G (p.Leu195Val) c.399+2442C>G (n.399+2442C>G) c.165+2442C>G (n.165+2442C>G) c.643C>G (p.Leu215Val) c.649C>G (p.Leu217Val) c.361C>G (p.Leu121Val) c.*2361C>G (n.*2361C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644499C>T | CA278243 | BTD | c.583C>T (p.Leu195Phe) c.399+2442C>T (n.399+2442C>T) c.165+2442C>T (n.165+2442C>T) c.643C>T (p.Leu215Phe) c.649C>T (p.Leu217Phe) c.361C>T (p.Leu121Phe) c.*2361C>T (n.*2361C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644499C= | CA1347663853 | BTD | c.583C= (p.Leu195=) c.399+2442C= (n.399+2442C=) c.165+2442C= (n.165+2442C=) c.643C= (p.Leu215=) c.649C= (p.Leu217=) c.361C= (p.Leu121=) c.*2361C= (n.*2361C=) | dbSNP |