| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.41619350C>A | CA356786641 | LIMCH1 | c.845C>A (p.Ala282Glu) c.368C>A (p.Ala123Glu) c.383C>A (p.Ala128Glu) c.349C>A c.389C>A (p.Ala130Glu) c.404C>A (p.Ala135Glu) | dbSNP |
| 4 | g.41619350C>T | CA2900430 | LIMCH1 | c.845C>T (p.Ala282Val) c.368C>T (p.Ala123Val) c.383C>T (p.Ala128Val) c.349C>T c.389C>T (p.Ala130Val) c.404C>T (p.Ala135Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |