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Table 2 RNF213 mutations other than R4810K in MMD patients

From: A new horizon of moyamoya disease and associated health risks explored through RNF213

Mutation

Ethnicity

References

A1622V

Asian

[37]

M3891V

Asian

[11]

V3933M

Asian

[37]

P4007R

Asian

[14]

I4076V

Asian

[15]

R4131C

Asian

[37]

Q4367L

Asian

[14]

V4567M

Asian

[11]

T4586P

Asian

[14]

L4631V

Asian

[14]

V4765M

Asian

[11]

D4863N

Asian

[12]

E4950D

Asian

[12, 14]

A5021V

Asian

[12, 14]

M5136I

Asian

[14]

D5160E

Asian

[12]

E5176G

Asian

[12]

A529del

Caucasian

[15]

R3922Q

Caucasian

[15]

N3962D

Caucasian

[12]

D4013N

Caucasian

[12, 15]

R4019C

Caucasian

[15]

R4062Q

Caucasian

[12]

C3997Y

Caucasian

[15]

K4115del

Caucasian

[15]

S4118F

Caucasian

[39]

D4273E

Caucasian

[15]

P4608S

Caucasian

[12]

K4732T

Caucasian

[15]

E4950_F4951ins7

Caucasian

[15]

V5163I

Caucasian

[15]