| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.75073944C>T | CA324077 | ABCB7 | c.871G>A (p.Gly291Ser) c.868G>A (p.Gly290Ser) c.751G>A (p.Gly251Ser) c.883G>A (p.Gly295Ser) n.788G>A n.758G>A n.729G>A c.855+1418G>A (n.855+1418G>A) c.748G>A (p.Gly250Ser) c.790G>A (p.Gly264Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.75073944C>A | CA331330987 | ABCB7 | c.871G>T (p.Gly291Cys) c.868G>T (p.Gly290Cys) c.751G>T (p.Gly251Cys) c.883G>T (p.Gly295Cys) n.788G>T n.758G>T n.729G>T c.855+1418G>T (n.855+1418G>T) c.748G>T (p.Gly250Cys) c.790G>T (p.Gly264Cys) | dbSNP |