Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.31357553T>C | CA14218354 | ITGAX | c.430+189T>C (n.430+189T>C) c.538T>C (p.Phe180Leu) n.837T>C n.518+189T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.31357553T= | CA2217016746 | ITGAX | c.430+189T= (n.430+189T=) c.538T= (p.Phe180=) n.837T= n.518+189T= | dbSNP |