Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.218890304G>T | CA116863 | WNT10A | c.697G>T (p.Glu233Ter) c.264-2470G>T c.646G>T (p.Glu216Ter) c.601G>T (p.Glu201Ter) c.377-2470G>T (n.377-2470G>T) | ClinVar dbSNP |
2 | g.218890304G>A | CA2114004 | WNT10A | c.697G>A (p.Glu233Lys) c.264-2470G>A c.646G>A (p.Glu216Lys) c.601G>A (p.Glu201Lys) c.377-2470G>A (n.377-2470G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |