| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64598579G>A | CA223870887 | SLC22A12 | c.894G>A (p.Glu298=) c.792G>A (p.Glu264=) c.570G>A (p.Glu190=) c.231G>A (p.Glu77=) c.969G>A (p.Glu323=) c.864G>A (p.Glu288=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64598579G>T | CA116315 | SLC22A12 | c.894G>T (p.Glu298Asp) c.792G>T (p.Glu264Asp) c.570G>T (p.Glu190Asp) c.231G>T (p.Glu77Asp) c.969G>T (p.Glu323Asp) c.864G>T (p.Glu288Asp) | ClinVar dbSNP |