| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33572915T>C | CA824059526 | BAK1,GGNBP1 | c.*888A>G (n.*888A>G) c.*1082A>G (n.*1082A>G) n.248+2104T>C | dbSNP |
| 6 | g.33572915T>G | CA824059527 | BAK1,GGNBP1 | c.*888A>C (n.*888A>C) c.*1082A>C (n.*1082A>C) n.248+2104T>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33572915T>A | CA15425435 | BAK1,GGNBP1 | c.*888A>T (n.*888A>T) c.*1082A>T (n.*1082A>T) n.248+2104T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |