M1R | deleterious | 91 | disrupts initiation |
M1T | deleterious | 81 | disrupts initiation |
M1I | deleterious | 10 | disrupts initiation |
C39R | deleterious | 180 | C3HC4 RING finger canonical residue |
C39S | deleterious | 112 | C3HC4 RING finger canonical residue |
C39Y | deleterious | 194 | C3HC4 RING finger canonical residue |
H41R | deleterious | 29 | C3HC4 RING finger canonical residue |
C44F | deleterious | 205 | C3HC4 RING finger canonical residue |
C47F | deleterious | 205 | C3HC4 RING finger canonical residue |
C61G | deleterious | 159 | C3HC4 RING finger canonical residue |
C61Y | deleterious | 194 | C3HC4 RING finger canonical residue |
C64R | deleterious | 180 | C3HC4 RING finger canonical residue |
C64Y | deleterious | 194 | C3HC4 RING finger canonical residue |
R71G | deleterious | 125 | deleterious due to splice junction effect34 |
Q356R | neutral or of little clinical significance | 43 |
35
|
D693N | neutral or of little clinical significance | 23 |
35
|
K820E | neutral or of little clinical significance | 56 | internal (Myriad) ethnic control study |
Y856H | neutral or of little clinical significance | 83 |
36
|
P871L | neutral or of little clinical significance | 98 |
35
|
E1038D | neutral or of little clinical significance | 45 | E&D very similar, known polymorphic position |
E1038G | neutral or of little clinical significance | 98 |
35
|
S1040N | neutral or of little clinical significance | 46 |
35
|
S1140G | neutral or of little clinical significance | 56 |
37
|
K1183R | neutral or of little clinical significance | 26 |
35
|
R1347G | neutral or of little clinical significance | 125 |
38,
39
|
R1495N | deleterious | 91 | deleterious due to splice junction effect |
S1512I | neutral or of little clinical significance | 142 |
39
|
E1559Q | deleterious | 29 | deleterious due to splice junction effect |
S1613G | neutral or of little clinical significance | 56 |
35
|
M1652I | neutral or of little clinical significance | 10 |
39
|
D1692N | deleterious | 23 | deleterious due to splice junction effect |
D1692Y | deleterious | 160 | deleterious due to splice junction effect |
R1699W | deleterious | 101 | 29 & Myriad segregation analysis |
A1708E | deleterious | 107 |
29,
40
|
M1775R | deleterious | 91 |
26
|