| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15644902A>G | CA351607898 | BTD | c.986A>G (p.Asn329Ser) c.399+2845A>G (n.399+2845A>G) c.165+2845A>G (n.165+2845A>G) c.1046A>G (p.Asn349Ser) c.1052A>G (p.Asn351Ser) c.764A>G (p.Asn255Ser) c.*2764A>G (n.*2764A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644902A>C | CA278370 | BTD | c.986A>C (p.Asn329Thr) c.399+2845A>C (n.399+2845A>C) c.165+2845A>C (n.165+2845A>C) c.1046A>C (p.Asn349Thr) c.1052A>C (p.Asn351Thr) c.764A>C (p.Asn255Thr) c.*2764A>C (n.*2764A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |