Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68685517G>A | CA16420173 | GAL | c.82-77G>A (n.82-77G>A) n.230+2324C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68685517G= | CA2580600311 | GAL | c.82-77G= (n.82-77G=) n.230+2324C= | dbSNP |
11 | g.68685517G>T | CA2574902291 | GAL | c.82-77G>T (n.82-77G>T) n.230+2324C>A | dbSNP gnomAD v4 |