| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.62998967G>A | CA6059854 | SLC22A8 | c.715C>T (p.Gln239Ter) c.346C>T (p.Gln116Ter) n.533C>T n.436C>T n.555C>T c.442C>T (p.Gln148Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62998967G>C | CA380983910 | SLC22A8 | c.715C>G (p.Gln239Glu) c.346C>G (p.Gln116Glu) n.533C>G n.436C>G n.555C>G c.442C>G (p.Gln148Glu) | dbSNP |
| 11 | g.62998967G= | CA1978015864 | SLC22A8 | c.715C= (p.Gln239=) c.346C= (p.Gln116=) n.533C= n.436C= n.555C= c.442C= (p.Gln148=) | dbSNP |