| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.41936060C>G | CA364090058 | CCND3 | c.759G>C (p.Glu253Asp) c.609G>C (p.Glu203Asp) c.516G>C (p.Glu172Asp) c.543G>C (p.Glu181Asp) c.171G>C (p.Glu57Asp) c.379G>C (p.Glu127Gln) n.412G>C c.622G>C (p.Glu208Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.41936060C>A | CA3804155 | CCND3 | c.759G>T (p.Glu253Asp) c.609G>T (p.Glu203Asp) c.516G>T (p.Glu172Asp) c.543G>T (p.Glu181Asp) c.171G>T (p.Glu57Asp) c.379G>T (p.Glu127Ter) n.412G>T c.622G>T (p.Glu208Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.41936060C>T | CA364090063 | CCND3 | c.759G>A (p.Glu253=) c.609G>A (p.Glu203=) c.516G>A (p.Glu172=) c.543G>A (p.Glu181=) c.171G>A (p.Glu57=) c.379G>A (p.Glu127Lys) n.412G>A c.622G>A (p.Glu208Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |