| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.18400593G>A | CA114447 | NAT2 | c.590G>A (p.Arg197Gln) c.200G>A (p.Arg67Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400593G>C | CA370636214 | NAT2 | c.590G>C (p.Arg197Pro) c.200G>C (p.Arg67Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.18400593G= | CA1768219056 | NAT2 | c.590G= (p.Arg197=) c.200G= (p.Arg67=) | dbSNP |
| 8 | g.18400593G>T | CA370636215 | NAT2 | c.590G>T (p.Arg197Leu) c.200G>T (p.Arg67Leu) | dbSNP gnomAD v4 |