x
W5Ter
x
L8Ter
x
T11A
T11S
x
A18T
x
E21K (E3K)
x
A23A (A5A)
A23V (A5V)
x
E27fs (E9fs)
x
E31K (E13K)
x
W38Ter (W20Ter)
x
R43C (Kyoto) (R25C)
x
Q39Ter
x
L46P (L28P)
x
G49fs (G31fs)
x
R50H (R32H)
R50C (R32C)
x
T60A (T42A)
x
Q64H (Q46H)
x
D83D (D65D)
x
E84Ter (E66Ter)
x
K90E (K72E)
x
E98fs (E80fs)
x
Q99K (Q81K)
x
P102L (P84L)
P102R (P84R)
P102T (P84T)
x
A104A (A86A)
x
R108W (R90W)
x
R110P (R92P)
x
E114fs (E96fs)
E114K (E96K)
x
R121W (R103W)
x
A124V (A106V)
x
ApoE4 (C130R / C112R)
ApoE2/4 ([R176C];[C130R] / [R158C];[C112])
ApoE3r ([C130R;R176C] / [C112R;R158C])
x
R132C (Tsukuba) (R114C)
R132P (R114P)
R132S (R114S)
x
Y136H (Y118H)
x
R137C (R119C)
R137H (R119H)
x
G145D (G127D)
G145InsEVQAMLG (Leiden) (G127InsEVQAMLG)
x
R152Q (R134Q)
R152W (R134W)
x
V153_R160dup
x
R154fs (R136fs)
R154C (R136C)
R154H (R136H)
R154S (Christchurch) (R136S)
x
L155F (L137F)
x
R160C (R142C)
V153_R160dup
R160L (R142L)
R160S (R142S)
x
K161_R165del (R143_K147del)
x
K161_R165del (R143_K147del)
L162_K164del (Tokyo/Maebashi) (L144_K146del)
x
K161_R165del (R143_K147del)
L162_K164del (Tokyo/Maebashi) (L144_K146del)
R163C (R145C)
R163H (R145H)
R163P (Sendai) (R145P)
x
K161_R165del (R143_K147del)
L162_K164del (Tokyo/Maebashi) (L144_K146del)
K164E (K146E)
K164Q (K146Q)
K164_R165delinsNW (K146_R147delinsNW)
x
K161_R165del (R143_K147del)
K164_R165delinsNW (K146_R147delinsNW)
R165P (Chicago) (R147P)
R165W (R147W)
x
L167del (L149del)
x
R168C (R150C)
R168G (Okayama) (R150G)
R168H (R150H)
R168P (R150P)
x
D169dup (D151dup)
x
A170D (A152D)
A170P (A152P)
x
L173L (L155L)
L173P (L155P)
x
Q174_G191del (Q156_G173del)
x
ApoE2 (R176C / R158C)
ApoE2/4 ([R176C];[C130R] / [R158C];[C112])
ApoE3r ([C130R;R176C] / [C112R;R158C])
R176P (Osaka/Kurashiki) (R158P)
x
L177P (L159P)
x
V179A (V161A)
x
A184D (A166D)
A184fs (A166fs)
x
R185R (R167R)
x
R198C (R180C)
x
E204Ter (E186Ter)
x
Q205E (Q187E)
x
R207C (R189C)
x
T212S (T194S)
x
V213E (V195E)
x
S215C (Toyonaka) (S197C)
x
A217A (A199A)
x
G218C (G200C)
x
P220L (P202L)
x
Q222K (Q204K)
x
A225T (A207T)
x
A227_E230del (A209_E212del)
x
W228Ter (W210Ter)
A227_E230del (A209_E212del)
x
A227_E230del (A209_E212del)
x
E230K (E212K)
A227_E230del (A209_E212del)
x
R233G (R215G)
x
R235W (R217W)
x
R242Q (R224Q)
x
R246C (R228C)
x
D248Y (D230Y)
x
E249K (E231K)
x
E252K (E234K)
x
V254E (Jacksonville) (V236E)
x
E262K
E262_E263delinsKK (Suita) (E244_E245delinsKK)
x
E263K
E262_E263delinsKK (Suita) (E244_E245delinsKK)
x
I268M (I250M)
x
R269G (R251G)
R269H (R251H)
x
L270E (L252E)
x
R292H (R274H)
x
W294C (W276C)
x
S314R (S296R)
APOE2 R176C
APOE4 C130R
Additional Variants
APOE Region (multi-gene)
2kb upstream
x
c.-1334G>A
c.-779_-776del
c.-647A>G
c.-558A>T
g.45408560_45410359del
c.-494T>C
c.-488C>A
c.-380A>G
c.-286T>G
c.-279G>A
c.-233G>C
c.-105A>G
5' UTR
x
c.-81G>A
c.-78C>G
Intron 1
x
c.-24+38G>A
c.-24+69C>G
c.-24+288G>A
c.-23-377A>G
c.-23-280C>T
Intron 2
x
c.43+11G>A
c.43+78G>A
c.43+219_43+221dupGTT
c.43+349G>A
c.43+520G>A
c.43+64C>T (rs143063029)
c.44-523G>C
c.44-469A>G
c.44-1G>C
Intron 3
x
c.236+50T>C
c.237-28C>T
c.237-1A>G
c.237-33C>G
3' UTR
x
c.*25C>T
c.*36C>G
c.*92C>T
c.237-33C>G