From: Phenotype prediction for mucopolysaccharidosis type I by in silico analysis
Mutation | Phenotype prediction | Mutation | Phenotype prediction | Mutation | Phenotype prediction |
---|---|---|---|---|---|
134del12 | severe | c.1147dupG | severe | IVS4-1G > A | intermediate, severe |
153delC | severe | c.1166_1171dup | severe | IVS4 + 1G > A | intermediate |
229del3 | severe | c.1190-1delG | severe | IVS5-7G > A | mild |
252insC | severe | c.1225dupG | severe | IVS5 + 1G > A | severe |
c.349delT | unknown | c.1244-1271del27 | severe | IVS6 + 1G > C | severe |
396insAC | milda | 1251delC | severe | IVS6 + 1G > T | severe |
468del3 | severe | 1277ins9 | severe | IVS7-4G > A | severe |
486del6 | unknown | 1352delG | severe | IVS7 + 2 T > C | unknown |
c.574delT | severe | c.1398delC | severe | IVS8-1G > A | severe |
628del5 | severe | c.1589insGC | severe | IVS8 + 4G > A | intermediate |
c.657dupG | severe | c.1593delG | intermediatea | IVS8 + 5G > A | intermediate, severe |
668insGCG | severe | 1702delG | severe | IVS9 + 1G > T | severe |
682insAC | severe | 1783del11 | severe | IVS9 + 2 T > G | unknown |
702ins10del22 | severe | c.1805delTinsGAACA | severe | IVS11-G > T | severe |
704ins5 | severe | 1839del29 | severe | IVS11 + 5G > A | severe |
740delC | severe | 1902del2 | severe | IVS11 + 5G > C | severe |
747delG | severe | c.1918_1927del10 | intermediatea | 3308del12 | intermediate |
755del5 | severe | 1995del11 | intermediatea | IVS12 + 1G > A | severe |
c.826_828del3 | severe | D444/445 | mild | IVS12 + 2 T > G | severe |
c.854delC | severe | c.1-2C > G | severe | IVS12 + 2 T > A | unknown |
c.883dupC | severe | IVS2-1G > C | severe | IVS12 + 3G > C | severe |
c.956_972 + 9delinsTA | severe | IVS2-3C > G | unknown | IVS12 + 4C > T | intermediate |
964delC | severe | IVS2 + 1G > A | intermediate | IVS12 + 5G > A | severe |
974ins12 | mild | IVS2 + 6C > T | severe | IVS12 + 5G > C | unknown |
c.1045_1047del3 | severe | IVS3-2A > G | severe | IVS12 + 6 T > A | severe |
1132del6 | severe | IVS3 + 1G > A | severe |