| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.62995792T>A | CA6059770 | SLC22A8 | c.913A>T (p.Ile305Phe) c.544A>T (p.Ile182Phe) n.940A>T c.640A>T (p.Ile214Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62995792T>C | CA380982293 | SLC22A8 | c.913A>G (p.Ile305Val) c.544A>G (p.Ile182Val) n.940A>G c.640A>G (p.Ile214Val) | dbSNP |
| 11 | g.62995792T= | CA1978012910 | SLC22A8 | c.913A= (p.Ile305=) c.544A= (p.Ile182=) n.940A= c.640A= (p.Ile214=) | dbSNP |