| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.24793633A>G | CA494198350 | TNRC6A | c.3336A>G (p.Gln1112=) c.332-911A>G (n.332-911A>G) c.2983A>G n.284A>G n.289A>G c.2577A>G (p.Gln859=) c.2910A>G (p.Gln970=) c.3176-911A>G (n.3176-911A>G) c.3363A>G (p.Gln1121=) c.3288A>G (p.Gln1096=) c.3203-911A>G (n.3203-911A>G) c.2937A>G (p.Gln979=) | dbSNP gnomAD v4 |
| 16 | g.24793633A>T | CA7968886 | TNRC6A | c.3336A>T (p.Gln1112His) c.332-911A>T (n.332-911A>T) c.2983A>T n.284A>T n.289A>T c.2577A>T (p.Gln859His) c.2910A>T (p.Gln970His) c.3176-911A>T (n.3176-911A>T) c.3363A>T (p.Gln1121His) c.3288A>T (p.Gln1096His) c.3203-911A>T (n.3203-911A>T) c.2937A>T (p.Gln979His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |