| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.116748357C>T | CA672225374 | BUD13 | c.*125G>A (n.*125G>A) c.760G>A | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.116748357C>G | CA13398302 | BUD13 | c.*125G>C (n.*125G>C) c.760G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116748357C= | CA2002705692 | BUD13 | c.*125G= (n.*125G=) c.760G= | dbSNP |