| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.44934496C>G | CA389558014 | KLHL28 | c.962G>C (p.Arg321Pro) c.1004G>C (p.Arg335Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.44934496C>A | CA7166659 | KLHL28 | c.962G>T (p.Arg321Leu) c.1004G>T (p.Arg335Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.44934496C>T | CA389558016 | KLHL28 | c.962G>A (p.Arg321His) c.1004G>A (p.Arg335His) | dbSNP gnomAD v3 gnomAD v4 |