Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.6021545G>A | CA5397427 | IL2RA | c.368-2046C>T (n.368-2046C>T) c.516C>T (p.His172=) c.368-1604C>T (n.368-1604C>T) c.280-2046C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.6021545G>T | CA375926446 | IL2RA | c.368-2046C>A (n.368-2046C>A) c.516C>A (p.His172Gln) c.368-1604C>A (n.368-1604C>A) c.280-2046C>A | dbSNP gnomAD v4 |
10 | g.6021545G= | CA1888025437 | IL2RA | c.368-2046C= (n.368-2046C=) c.516C= (p.His172=) c.368-1604C= (n.368-1604C=) c.280-2046C= | dbSNP |