| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.102218863_102218864insTTC | CA279000 | RRM2B | c.635_636insAAG (p.Gly212_Leu213insSer) c.479_480insAAG (p.Gly160_Leu161insSer) n.153_154insAAG c.49-4705_49-4704insAAG (n.49-4705_49-4704insAAG) c.49-10578_49-10577insAAG (n.49-10578_49-10577insAAG) c.804_805insAAG c.123-5974_123-5973insAAG (n.123-5974_123-5973insAAG) c.473_474insAAG (p.Gly158_Leu159insSer) c.851_852insAAG (p.Gly284_Leu285insSer) | ClinVar dbSNP gnomAD v4 |
| 8 | g.102218863C= | CA3156357485 | RRM2B | c.635G= (p.Gly212=) c.479G= (p.Gly160=) n.153G= c.49-4705G= (n.49-4705G=) c.49-10578G= (n.49-10578G=) c.804G= c.123-5974G= (n.123-5974G=) c.473G= (p.Gly158=) c.851G= (p.Gly284=) | dbSNP |