| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15644520G>C | CA278366 | BTD | c.604G>C (p.Asp202His) c.399+2463G>C (n.399+2463G>C) c.165+2463G>C (n.165+2463G>C) c.664G>C (p.Asp222His) c.670G>C (p.Asp224His) c.382G>C (p.Asp128His) c.*2382G>C (n.*2382G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644520G>A | CA2277359 | BTD | c.604G>A (p.Asp202Asn) c.399+2463G>A (n.399+2463G>A) c.165+2463G>A (n.165+2463G>A) c.664G>A (p.Asp222Asn) c.670G>A (p.Asp224Asn) c.382G>A (p.Asp128Asn) c.*2382G>A (n.*2382G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644520G= | CA1347663920 | BTD | c.604G= (p.Asp202=) c.399+2463G= (n.399+2463G=) c.165+2463G= (n.165+2463G=) c.664G= (p.Asp222=) c.670G= (p.Asp224=) c.382G= (p.Asp128=) c.*2382G= (n.*2382G=) | dbSNP |