Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.136182554G>T | CA15373613 | SMAD5 | c.*5074G>T (n.*5074G>T) c.165-4607G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.136182554G>A | CA128080390 | SMAD5 | c.*5074G>A (n.*5074G>A) c.165-4607G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.136182554G= | CA1584854087 | SMAD5 | c.*5074G= (n.*5074G=) c.165-4607G= | dbSNP |