| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64593747G>C | CA381121841 | SLC22A12 | c.774G>C (p.Trp258Cys) c.672G>C (p.Trp224Cys) c.506+865G>C (n.506+865G>C) c.111G>C (p.Trp37Cys) c.849G>C (p.Trp283Cys) c.744G>C (p.Trp248Cys) | dbSNP gnomAD v4 |
| 11 | g.64593747G>A | CA116312 | SLC22A12 | c.774G>A (p.Trp258Ter) c.672G>A (p.Trp224Ter) c.506+865G>A (n.506+865G>A) c.111G>A (p.Trp37Ter) c.849G>A (p.Trp283Ter) c.744G>A (p.Trp248Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |