| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.122893153C>G | CA358228352 | FGF2,NUDT6 | c.*757C>G (n.*757C>G) c.626G>C (p.Arg209Pro) c.119G>C (p.Arg40Pro) c.*567G>C (n.*567G>C) c.236G>C c.*717G>C (n.*717G>C) | dbSNP gnomAD v4 |
| 4 | g.122893153C>T | CA3069815 | FGF2,NUDT6 | c.*757C>T (n.*757C>T) c.626G>A (p.Arg209Gln) c.119G>A (p.Arg40Gln) c.*567G>A (n.*567G>A) c.236G>A c.*717G>A (n.*717G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |