From: The genetic landscape of crystallins in congenital cataract
Family | Variant | Gene | HGVSc | HGVSp | Phenotype | CADD | GERP | Mutation taster/verdict |
---|---|---|---|---|---|---|---|---|
A | Chr21-44589354 | CRYAA | c.145C>T | R49C | Nuclear/lamellar | 32.00 | 4.88 | Disease causing-0.81/likely pathogenic/recurrent |
B | Chr17-27579135 | CRYBA1 | c.272delGAG | G91del | Nuclear | 19.47 | 5.88 | Disease causing-0.81/pathogenic/recurrent |
C | Chr2-208986452 | CRYGD | c.470G>A | W157* | Pulverulent | 39.00 | 4.25 | Disease causing-0.81/pathogenic/recurrent |
D | Chr2-208994238 | CRYGC | c.179delG | R60Qfs*43 | Nuclear | 32.00 | 4.98 | Disease causing-0.81/pathogenic/novel |
E | Chr22-26995557 | CRYBB1 | c.656G>A | W219* | Lamellar | 43.00 | 4.21 | Disease causing-0.81/pathogenic/novel |
F | Chr2-208986530 | CRYGD | c.392G>A | W131* | Nuclear | 40.00 | 4.25 | Disease causing-0.81/pathogenic/novel |
G | Chr21-44592322 | CRYAA | c.454delGCC | A152del | Congenital cataract | 15.18 | 3.78 | Disease causing-0.81/likely pathogenic/novel |
H | Chr22-26995595 | CRYBB1 | c.618C>A | Y206* | Congenital cataract | 38.00 | 4.21 | Disease causing-0.81/pathogenic/novel |
I | Chr2-208994404 | CRYGC | c.13A>C | T5P | Congenital cataract | 24.80 | 4.96 | Disease causing-0.81/likely pathogenic/recurrent |
J | Chr2-208986504 | CRYGD | c.418C>T | R140* | Nuclear cataract | 36.00 | 4.25 | Disease causing-0.81/pathogenic/recurrent |