| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.136115583G>A | CA56886546 | CXCR4 | c.333C>T (p.Ile111=) c.300C>T (p.Ile100=) c.345C>T (p.Ile115=) c.357C>T (p.Ile119=) n.539C>T c.558C>T (p.Ile186=) c.444C>T (p.Ile148=) | dbSNP |
| 2 | g.136115583G>C | CA348659516 | CXCR4 | c.333C>G (p.Ile111Met) c.300C>G (p.Ile100Met) c.345C>G (p.Ile115Met) c.357C>G (p.Ile119Met) n.539C>G c.558C>G (p.Ile186Met) c.444C>G (p.Ile148Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.136115583G= | CA1290966091 | CXCR4 | c.333C= (p.Ile111=) c.300C= (p.Ile100=) c.345C= (p.Ile115=) c.357C= (p.Ile119=) n.539C= c.558C= (p.Ile186=) c.444C= (p.Ile148=) | dbSNP |