A. Previously classified missense substitutions |
D693N | 2196G>A | <1.0×10−10 | 0.003 | Yes | <1.0×10−10 | Known neutral/LCS |
K820E | 2577A>G | <1.0×10−10 | <3.0×10−3 | Yes | <1.0×10−10 | Known neutral/LCS |
Y856H | 2685T>C | 8.8×10−3 | 0.025 | Yes | 2.2×10−4 | Known neutral/LCS |
P871L | 2731C>T | <1.0×10−10 | 2.568 | Yes | <1.0×10−10 | Known neutral/LCS |
E1038G | 3232A>G | <1.0×10−10 | 0.003 | Yes | <1.0×10−10 | Known neutral/LCS |
S1140G | 3537A>G | 2.9×10−4 | <3.0×10−3 | Yes | <8.7×10−7 | Known neutral/LCS |
K1183R | 3667A>G | <1.0×10−10 | <3.0×10−3 | Yes | <1.0×10−10 | Known neutral/LCS |
R1347G | 4158A>G | <1.0×10−10 | 0.003 | Yes | <1.0×10−10 | Known neutral/LCS |
S1613G | 4956A>G | <1.0×10−10 | <3.0×10−3 | Yes | <1.0×10−10 | Known neutral/LCS |
M1628T | 5002T>C | 1.6×10−4 | <3.0×10−3 | Yes | <4.8×10−7 | Known neutral/LCS |
M1652I | 5075G>A | <1.0×10−10 | 0.003 | Yes | <1.0×10−10 | Known neutral/LCS |
Q356R | 1186A>G | <1.0×10−10 | 0.025 | No | – | Known neutral/LCS |
R841W | 2640C>T | 1.6×10−6 | 0.003 | No | – | Known neutral/LCS |
S1040N | 3238G>A | <1.0×10−10 | <3.0×10−3 | No | – | Known neutral/LCS |
S1512I | 4654G>T | <1.0×10−10 | 0.003 | No | – | Known neutral/LCS |
|
B. Unclassified missense substitutions |
L246V | 855T>G | 2.6×10−5 | 0.025 | Yes | 6.5×10−7 | Neutral/LCS |
F486L | 1575T>C | 1.2×10−2 | <3.0×10−3 | Yes | <3.6×10−5 | Neutral/LCS |
R496H | 1606G>A | 9.2×10−5 | <3.0×10−3 | Yes | <2.7×10−7 | Neutral/LCS |
M1008V | 3141A>G | <1.0×10−10 | <3.0×10−3 | Yes | <1.0×10−10 | Neutral/LCS |
M1008I | 3143G>A | 9.6×10−7 | <3.0×10−3 | Yes | <2.9×10−9 | Neutral/LCS |
E1250K | 3867G>A | 1.0×10−5 | 0.025 | Yes | 2.6×10−7 | Neutral/LCS |
D1546N | 4755G>A | 5.6×10−3 | 0.025 | Yes | 1.4×10−4 | Neutral/LCS |
L1564P | 4810T>C | 3.3×10−3 | 0.025 | Yes | 8.3×10−5 | Neutral/LCS |
Y105C | 433A>G | 1.1×10−5 | 0.003 | No | – | Unclassified |
Y179C | 655A>G | 1.2×10−2 | 0.025 | No | – | Unclassified |
S186Y | 676C>A | 2.88 | 2.568 | No | – | Unclassified |
R504H | 1630G>A | 1.28 | 0.003 | Yes | 3.8×10−3 | Unclassified |
N550H | 1767A>C | 1.2×10−2 | <3.0×10−3 | No | – | Unclassified |
L668F | 2121C>T | 1.28 | 0.251 | No | – | Unclassified |
V772A | 2434T>C | 9.4×10−6 | 0.251 | No | – | Unclassified |
E1060A | 3298A>C | 1.00 | 0.251 | No | – | Unclassified |
P1637L | 5029C>T | 1.23 | 0.025 | No | – | Unclassified |
D1733G | 5317A>G | 1.00 | 0.025 | No | – | Unclassified |