| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.157343125C>T | CA3534014 | CYFIP2,FNDC9 | c.412G>A (p.Val138Ile) c.2265+1968C>T (p.=) c.2595+1968C>T (p.=) c.2085+1968C>T (p.=) c.2748+1968C>T (p.=) c.2673+1968C>T (p.=) c.580+1968C>T (p.=) c.2460+1968C>T (p.=) | dbSNP ExAC gnomAD |
| 5 | g.157343125C>A | CA3534015 | CYFIP2,FNDC9 | c.412G>T (p.Val138Phe) c.2265+1968C>A (p.=) c.2595+1968C>A (p.=) c.2085+1968C>A (p.=) c.2748+1968C>A (p.=) c.2673+1968C>A (p.=) c.580+1968C>A (p.=) c.2460+1968C>A (p.=) | dbSNP ExAC gnomAD |