Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.170822115T>C | CA1962517 | GAD1 | c.111T>C (p.His37=) n.92T>C n.398T>C c.29T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.170822115T>G | CA349270338 | GAD1 | c.111T>G (p.His37Gln) n.92T>G n.398T>G c.29T>G | dbSNP |
2 | g.170822115T= | CA1307074443 | GAD1 | c.111T= (p.His37=) n.92T= n.398T= c.29T= | dbSNP dbSNP |