| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48904918C>T | CA143742 | SLC35A2 | c.991G>A (p.Val331Ile) c.355-26G>A (n.355-26G>A) c.427-26G>A (n.427-26G>A) c.553G>A c.1075G>A (p.Val359Ile) c.1030G>A (p.Val344Ile) c.425-1453G>A c.808G>A (p.Val270Ile) c.*885G>A (n.*885G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48904918C= | CA2428428821 | SLC35A2 | c.991G= (p.Val331=) c.355-26G= (n.355-26G=) c.427-26G= (n.427-26G=) c.553G= c.1075G= (p.Val359=) c.1030G= (p.Val344=) c.425-1453G= c.808G= (p.Val270=) c.*885G= (n.*885G=) | dbSNP |