Table 1. Human CRYGD mutations associated with childhood cataracts.
| Exon | Nucleotide | Amino acid | Inheritance | Phenotype | Origin | Ref. |
|---|---|---|---|---|---|---|
| Ex2 | c.43C > T | p.R15C | AD | Punctate, Coralliform | US, China | 6 |
| Ex2 | c.43C > A | p.R15S | AD | Coraliform | China | 7 |
| Ex2 | c.70C > A | p.P24T | AD | Coraliform, lamellar, fasciculiform, Acueliform | India, China, Morocco, Saudi Arabia, Australia, Europe | 8 |
| Ex2 | c.70C > T | p.P24S | AD | Polymorphic | Mid-Asia | 9 |
| Ex2 | c.106G > C | p.A36P | AD | Nuclear | China | 10 |
| Ex2 | c.109C > A | p.R37S | S | crystals | China, Czech Rep | 11 |
| Ex2 | c.110G > C | p.R37P | AD | Nuclear | China | 12 |
| Ex2 | c.127T > C | p.W43R | AD | Nuclear | China | 13 |
| Ex2 | c.168C > G | p.Y56X | AD | Nuclear | Brazil | 14 |
| Ex2 | c.176G > A | p.R59H | AD | Aculeiform | Switzerland,Mexico | 15 |
| Ex2 | c.181G > C | p.G61C | AD | Coralliform | China | 16 |
| Ex2 | c.229C > A | p.R77S | AD | Anterior polar coronary | India | 17 |
| Ex3 | c.301C > T | p.Q101X | AD | Nuclear | China | In this study |
| Ex3 | c.309_310insA | p.E104fsX4 | AD | Nuclear | China | In this study |
| Ex3 | c.320A > C | p.E107A | AD | Nuclear | Mexico | 18 |
| Ex3 | c.402C > A | p.Y134X | AD | Microcornea | Denmark | 19 |
| Ex3 | c.403G > T | p.E135X | AD | Nuclear | China | In this study |
| Ex3 | c.418C > T | p.R140X | AD | Nuclear | India, Ashkenazi Jewish | 20 |
| Ex3 | c.470G > A | p.W157X | AD | Central nuclear | India | 21 |
| Ex3 | c.494delG | p.G165AfsX3 | AD | Nuclear | China | 22 |