Table 3 Summary of APOC2 gene mutations

promoter

c.-86A > G

N/A

undetectable

18

missense

c.1A > G

M1V(ApoCII Paris)

undetectable

11

missense

c.142 T > C

W48R(ApoCII Wakayama)

undetectable

14

missense

c.281 T > C

L94P(ApoCII Hongkong)

n.d.

15

nonsense

c.177C > G

Y59*(ApoCII Bari)

undetectable

9

nonsense

c.177C > A

Y59*(ApoCII Padova)

very low

12

nonsense

c.10C > T

R4*(ApoCII Paris2)

undetectable

17

nonsense

c.255C > A

Y85*(ApoCII Auckland)

undetectable

19

deletion

c.270delT

frameshift(ApoCII Toronto)

undetectable

8

deletion

c.118delG

frameshift(ApoCII Nijmegen)

undetectable

13

deletion

c.70delC

frameshift(ApoCII Jap/ven)

undetectable

20

gross-del

Loss of E2,3,4

untranslated(ApoCII Tuzla)

undetectable

16

insertion

c.274dupC

frameshift(ApoCII St.Michael)

n.d.

7

splicing

IVS2 ds G-C +1

c.55 + 1G > C(ApoCII Hamburg)

very low

10

del-ins

c.86A > CC

frameshift(ApoCII Shanghai)

very low