Table 2.

Polymorphisms found in the COL4A3/4 genes in this study

ExonNucleotide ChangeEffect on Coding Sequence
COL4A3
    2IVS2+12C>A
    127G>CG43R
    9473C>AA158D
    485G>AE162G
    15878C>GP293R
    17976G>TD326Y
    211223G>AR408H
    1195T>CL399L
    231452G>AG484G
    251721T>CL574P
    40IVS39+18delA
    433807C>AD1269E
    484421T>CL1474P
COL4A4
    2−2C>T
    17C>TT6I
    17IVS17+71A>G
    211444C>TP482S
    231634G>CG545A
    29IVS28-5C>T
    333011T>CL1004P
    393594G>AG1198G
    3684G>AK1228K
    424080A>GP1360P
    444207C>TP1403S
    474548A>GV1516V
    484932C>TF1644F