| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.62979488C>T | CA6059182 | SLC22A6 | c.1361G>A (p.Arg454Gln) c.1361G>A (p.Arg454His) c.*552G>A (n.*552G>A) c.1364G>A (p.Arg455Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62979488C>G | CA380937221 | SLC22A6 | c.1361G>C (p.Arg454Pro) c.*552G>C (n.*552G>C) c.1364G>C (p.Arg455Pro) | dbSNP |
| 11 | g.62979488C= | CA1978015531 | SLC22A6 | c.1361G= (p.Arg454=) c.*552G= (n.*552G=) c.1364G= (p.Arg455=) | dbSNP |