Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.117897021A>C | CA15556836 | EXT1 | n.430-59820T>G c.963-59820T>G (n.963-59820T>G) c.331-59820T>G c.74-61470T>G (n.74-61470T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.117897021A>T | CA1813975540 | EXT1 | n.430-59820T>A c.963-59820T>A (n.963-59820T>A) c.331-59820T>A c.74-61470T>A (n.74-61470T>A) | dbSNP |