| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.224503793C>A | CA350827671 | CUL3 | c.1236G>T (p.Leu412Phe) c.1038G>T (p.Leu346Phe) c.1164G>T (p.Leu388Phe) n.532G>T c.-41G>T (n.-41G>T) c.1254G>T (p.Leu418Phe) c.1203G>T (p.Leu401Phe) c.1089G>T (p.Leu363Phe) c.1194G>T (p.Leu398Phe) c.1044G>T (p.Leu348Phe) c.936G>T (p.Leu312Phe) | dbSNP |
| 2 | g.224503793C>G | CA350827673 | CUL3 | c.1236G>C (p.Leu412Phe) c.1038G>C (p.Leu346Phe) c.1164G>C (p.Leu388Phe) n.532G>C c.-41G>C (n.-41G>C) c.1254G>C (p.Leu418Phe) c.1203G>C (p.Leu401Phe) c.1089G>C (p.Leu363Phe) c.1194G>C (p.Leu398Phe) c.1044G>C (p.Leu348Phe) c.936G>C (p.Leu312Phe) | dbSNP |
| 2 | g.224503793C>T | CA269960 | CUL3 | c.1236G>A (p.Leu412=) c.1038G>A (p.Leu346=) c.1164G>A (p.Leu388=) n.532G>A c.-41G>A (n.-41G>A) c.1254G>A (p.Leu418=) c.1203G>A (p.Leu401=) c.1089G>A (p.Leu363=) c.1194G>A (p.Leu398=) c.1044G>A (p.Leu348=) c.936G>A (p.Leu312=) | ClinVar dbSNP |