| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.46278228C>T | CA834833 | LRRC41,RAD54L | c.2190C>T (p.Ala730=) c.*637G>A (n.*637G>A) c.*1858C>T (n.*1858C>T) c.1223C>T c.910C>T c.500+954G>A (n.500+954G>A) c.1650C>T (p.Ala550=) c.1416C>T (p.Ala472=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.46278228C>A | CA834834 | LRRC41,RAD54L | c.2190C>A (p.Ala730=) c.*637G>T (n.*637G>T) c.*1858C>A (n.*1858C>A) c.1223C>A c.910C>A c.500+954G>T (n.500+954G>T) c.1650C>A (p.Ala550=) c.1416C>A (p.Ala472=) | dbSNP ExAC gnomAD v2 gnomAD v4 |