| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.190296836G>A | CA199654 | HIBCH | c.196C>T (p.Arg66Trp) c.358C>T (p.Arg120Trp) c.181C>T (p.Arg61Trp) n.440C>T n.259C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.190296836G>T | CA430324481 | HIBCH | c.196C>A (p.Arg66=) c.358C>A (p.Arg120=) c.181C>A (p.Arg61=) n.440C>A n.259C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.190296836G= | CA1315978490 | HIBCH | c.196C= (p.Arg66=) c.358C= (p.Arg120=) c.181C= (p.Arg61=) n.440C= n.259C= | dbSNP |