| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64592802T>C | CA6077072 | SLC22A12 | c.426T>C (p.His142=) c.-83T>C (n.-83T>C) c.321T>C (p.His107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64592802T>A | CA381119296 | SLC22A12 | c.426T>A (p.His142Gln) c.-83T>A (n.-83T>A) c.321T>A (p.His107Gln) | dbSNP |
| 11 | g.64592802T= | CA1978792215 | SLC22A12 | c.426T= (p.His142=) c.-83T= (n.-83T=) c.321T= (p.His107=) | dbSNP |