Table 1

Mutations and phenotypes of patients with MYH9-RD

Patient no.MutationMacro-thrombocytopeniaDöhle bodiesHearing lossNephritisCataracts
P1 S96L 
P2 T1155I 
P3 R1400W ND 
P4 D1424N ND 
P5 D1424N ND 
P6 D1424N 
P7 5779delC ND 
P8 E1945x 
Patient no.MutationMacro-thrombocytopeniaDöhle bodiesHearing lossNephritisCataracts
P1 S96L 
P2 T1155I 
P3 R1400W ND 
P4 D1424N ND 
P5 D1424N ND 
P6 D1424N 
P7 5779delC ND 
P8 E1945x 

The position of the mutation for each patient with MYH9-RD is listed, along with the symptoms present or absent.

ND indicates not determined.

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