Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.18400344T>C | CA114449 | NAT2 | c.341T>C (p.Ile114Thr) c.-50T>C (n.-50T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18400344T>A | CA370635672 | NAT2 | c.341T>A (p.Ile114Asn) c.-50T>A (n.-50T>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.18400344T= | CA1630835105 | NAT2 | c.341T= (p.Ile114=) c.-50T= (n.-50T=) | dbSNP |