Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.18400194G>A | CA114455 | NAT2 | c.191G>A (p.Arg64Gln) c.-57-143G>A (n.-57-143G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18400194G= | CA1768218854 | NAT2 | c.191G= (p.Arg64=) c.-57-143G= (n.-57-143G=) | dbSNP |
8 | g.18400194G>C | CA370635358 | NAT2 | c.191G>C (p.Arg64Pro) c.-57-143G>C (n.-57-143G>C) | dbSNP gnomAD v4 |