| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.42690863G>C | CA214762 | KLHL40 | c.1612G>C (p.Ala538Pro) c.1504G>C (p.Ala502Pro) | ClinVar dbSNP |
| 3 | g.42690863G>A | CA2337035 | KLHL40 | c.1612G>A (p.Ala538Thr) c.1504G>A (p.Ala502Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.42690863G= | CA1360458690 | KLHL40 | c.1612G= (p.Ala538=) c.1504G= (p.Ala502=) | dbSNP |