Table 3 of Santhiya, Mol Vis 2010; 16:1837-1847.
Genes | Non coding | Family code | Coding | Family code |
---|---|---|---|---|
CRYAA | IVS2+27 g>c | CBE21;DJC1 | rs60485881 | CBE21 |
CRYBB2 | 65843t>a;(IVS1+31t>a) | JEE13 | 54 g>a; K18K | DJC1 |
65894a>g;(IVS1+84a>g) | JEE13 | rs17842553 | SEC18 | |
71307c>a;IVS3+120c>a) | DJC1; JPM1 | |||
73644a>g;(IVS3–360a>g) | JEE13;DJC1 | |||
75738 g>a;(IVS5+9g>a) | JEE13;DJC1 | 77788 g>a;G161G | JEE13;DJC1 | |
CRYGC | none | none | rs3189020 | Sec18 |
CRYGD | 517t>c; IVS2+30t>c | CBE21;DJC1;JPM1; | 286t>c; Y16Y | JPM1;DJC1; |
JEE13 | 365a>g;M43V | CBE21 | ||
570c>t; IVS2+83t>c | CBE21;DJC1;JPM1; | 285a>g;R94R | CBE21 | |
JEE13 | JEE13 | |||
553c>t-3′UTR | JEE13 | |||
GJA3 | rs968566 | SEC18 | none | none |
GJA8 | none | none | none | none |
PITX3 | none | none | rs17858134 | SEC18;CBE21 |
HSF4 | IVS1+9 c>t | JEE13 | none | none |