| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.137709761G>A | CA3422543 | KLHL3 | c.230C>T (p.Ala77Val) c.110C>T (p.Ala37Val) c.134C>T (p.Ala45Val) n.367C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.137709761G>T | CA269973 | KLHL3 | c.230C>A (p.Ala77Glu) c.110C>A (p.Ala37Glu) c.134C>A (p.Ala45Glu) n.367C>A | ClinVar dbSNP |