Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.153743056G>A | CA278116 | ABCD1 | c.1850G>A (p.Arg617His) n.2322G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.153743056G>T | CA415116285 | ABCD1 | c.1850G>T (p.Arg617Leu) n.2322G>T | ClinVar dbSNP gnomAD v4 |
X | g.153743056G>C | CA415116281 | ABCD1 | c.1850G>C (p.Arg617Pro) n.2322G>C | ClinVar dbSNP |
X | g.153743056G= | CA2466457548 | ABCD1 | c.1850G= (p.Arg617=) n.2322G= | dbSNP |