| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15644736A>G | CA278270 | BTD | c.820A>G (p.Ile274Val) c.399+2679A>G (n.399+2679A>G) c.165+2679A>G (n.165+2679A>G) c.880A>G (p.Ile294Val) c.886A>G (p.Ile296Val) c.598A>G (p.Ile200Val) c.*2598A>G (n.*2598A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644736A= | CA1347664364 | BTD | c.820A= (p.Ile274=) c.399+2679A= (n.399+2679A=) c.165+2679A= (n.165+2679A=) c.880A= (p.Ile294=) c.886A= (p.Ile296=) c.598A= (p.Ile200=) c.*2598A= (n.*2598A=) | dbSNP |
| 3 | g.15644736A>T | CA351607417 | BTD | c.820A>T (p.Ile274Phe) c.399+2679A>T (n.399+2679A>T) c.165+2679A>T (n.165+2679A>T) c.880A>T (p.Ile294Phe) c.886A>T (p.Ile296Phe) c.598A>T (p.Ile200Phe) c.*2598A>T (n.*2598A>T) | dbSNP gnomAD v4 |