Variant | ID Patients (n = 377) | Controls (n = 440) | Functional prediction (Polyphen/SIFT) |
---|---|---|---|
ID only | |||
N13H | 1 | 0 | Benign/tolerated |
N17K* | 1 | 0 | Possibly damaging/tolerated |
V171M | 1 | 0 | Possibly damaging/affects protein function |
IVS5+2T > C | 1 | 0 | Damaging |
IVS7+1G > T | 1 | 0 | Damaging |
E288D | 2 | 0 | Benign/tolerated |
ID and Controls | |||
L298F | 1 | 2 | Possibly damaging/affects protein function |
Controls only | |||
E61Q | 0 | 1 | Benign/tolerated |
D210G | 0 | 1 | Probably damaging/affects protein function |
K219R | 0 | 1 | Benign/tolerated |
P243L | 0 | 1 | Probably damaging/affects protein function |
C273S | 0 | 1 | Probably damaging/affects protein function |
R291Q | 0 | 1 | Probably damaging/tolerated |