Table 3.

Mutations in 195 kindredsa

Type of MutationNo. of FamiliesPercentage of Mutations
aTwo missense mutations leading to glycine substitution were found in one family. One nonsense mutation was present in two unrelated families.
bTwenty-eight are frameshift and three are in-frame deletions.
cAll insertions are frameshift mutations.
Large rearrangement
COL4A5 deletion2613.5
COL4A5+A6 deletion126
Small mutation
missense7437.95
deletionb3115.9
insertionc94.6
nonsense147.2
splice site2914.9