From: Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia
 | Predicted Protein | cDNA | Diagnosis | Reference |
---|---|---|---|---|
Exon 2 | p.Y6D | c.16T>G | DD-II | [31] |
 | p.A15V | c.44C>T | DGI-II | [33] |
 | p.P17T | c.49C>A | DGI-II | [23] |
 | p.P17S | c.49C>T | DGI-II | |
Intron 2 | p.V18_Q45del | c.52-3C>G | DGI-II | [34] |
 |  | c.52-3C>A | DGI-II | [38] |
Exon 3 | p.V18F | c.52G>T | DGI-II/III | |
 | p.Q45X | c.133C>T | DGI-II | |
Intron 3 | p.V18_Q45del | c.135+1G>A | DGI-II | [5] |
 |  | c.135+1G>T | DGI-II/III | [26] |
Exon 5 | p.S624TfsX687 | c.1870-1873del TCAG | DD-II | [26] |
 | p.S640TfsX671 | c.1918-1921del TCAG | DD-II | [26] |
 | p.S680fsX1313 | c.2040delC | DD-II | [27] |
 | p.S758AfsX554 | c.2272del A | DGI-II/III | [26] |
 | p.S842TfsX471 | c.2525del G | DGI-II/III | [26] |
 | p.S865fsX1313 | c.2593delA | DGI-II | [27] |
 | p.S895fsX1313 | c.2684delG | DGI-II | [27] |
 | p.D1146fsX1313 | c.3438delC | DGI-II | [27] |
 | p.D1182fsX1312 | c.3546-3550delTAGCAinsG | DGI-II | [27] |