Table 4

 Integrated analysis

Missense substitutioncooc-LRcon-LRAppropriate yes/noIntegrated likelihood ratioConclusion
aa nament name
A. Previously classified missense substitutions
D693N2196G>A<1.0×10−100.003Yes<1.0×10−10Known neutral/LCS
K820E2577A>G<1.0×10−10<3.0×10−3Yes<1.0×10−10Known neutral/LCS
Y856H2685T>C8.8×10−30.025Yes2.2×10−4Known neutral/LCS
P871L2731C>T<1.0×10−102.568Yes<1.0×10−10Known neutral/LCS
E1038G3232A>G<1.0×10−100.003Yes<1.0×10−10Known neutral/LCS
S1140G3537A>G2.9×10−4<3.0×10−3Yes<8.7×10−7Known neutral/LCS
K1183R3667A>G<1.0×10−10<3.0×10−3Yes<1.0×10−10Known neutral/LCS
R1347G4158A>G<1.0×10−100.003Yes<1.0×10−10Known neutral/LCS
S1613G4956A>G<1.0×10−10<3.0×10−3Yes<1.0×10−10Known neutral/LCS
M1628T5002T>C1.6×10−4<3.0×10−3Yes<4.8×10−7Known neutral/LCS
M1652I5075G>A<1.0×10−100.003Yes<1.0×10−10Known neutral/LCS
Q356R1186A>G<1.0×10−100.025NoKnown neutral/LCS
R841W2640C>T1.6×10−60.003NoKnown neutral/LCS
S1040N3238G>A<1.0×10−10<3.0×10−3NoKnown neutral/LCS
S1512I4654G>T<1.0×10−100.003NoKnown neutral/LCS
B. Unclassified missense substitutions
L246V855T>G2.6×10−50.025Yes6.5×10−7Neutral/LCS
F486L1575T>C1.2×10−2<3.0×10−3Yes<3.6×10−5Neutral/LCS
R496H1606G>A9.2×10−5<3.0×10−3Yes<2.7×10−7Neutral/LCS
M1008V3141A>G<1.0×10−10<3.0×10−3Yes<1.0×10−10Neutral/LCS
M1008I3143G>A9.6×10−7<3.0×10−3Yes<2.9×10−9Neutral/LCS
E1250K3867G>A1.0×10−50.025Yes2.6×10−7Neutral/LCS
D1546N4755G>A5.6×10−30.025Yes1.4×10−4Neutral/LCS
L1564P4810T>C3.3×10−30.025Yes8.3×10−5Neutral/LCS
Y105C433A>G1.1×10−50.003NoUnclassified
Y179C655A>G1.2×10−20.025NoUnclassified
S186Y676C>A2.882.568NoUnclassified
R504H1630G>A1.280.003Yes3.8×10−3Unclassified
N550H1767A>C1.2×10−2<3.0×10−3NoUnclassified
L668F2121C>T1.280.251NoUnclassified
V772A2434T>C9.4×10−60.251NoUnclassified
E1060A3298A>C1.000.251NoUnclassified
P1637L5029C>T1.230.025NoUnclassified
D1733G5317A>G1.000.025NoUnclassified