| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15645061A>G | CA278298 | BTD | c.1145A>G (p.Asn382Ser) c.399+3004A>G (n.399+3004A>G) c.1015+130A>G (n.1015+130A>G) c.165+3004A>G (n.165+3004A>G) c.1205A>G (p.Asn402Ser) c.1211A>G (p.Asn404Ser) c.793+130A>G (n.793+130A>G) c.*2923A>G (n.*2923A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15645061A= | CA1347664986 | BTD | c.1145A= (p.Asn382=) c.399+3004A= (n.399+3004A=) c.1015+130A= (n.1015+130A=) c.165+3004A= (n.165+3004A=) c.1205A= (p.Asn402=) c.1211A= (p.Asn404=) c.793+130A= (n.793+130A=) c.*2923A= (n.*2923A=) | dbSNP |